|
OMIM |
Link |
Information gain |
01 |
|
apnea, obstructive sleep
|
[NCBI]
|
0.024678
|
|
|
RA
|
[NCBI]
|
0.0155674
|
|
|
VRNI
|
[NCBI]
|
0.015359
|
|
|
SRS
|
[NCBI]
|
0.0147825
|
|
|
kabuki syndrome
|
[NCBI]
|
0.0101355
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.00907986
|
|
|
SLE
|
[NCBI]
|
0.00772874
|
|
|
AOS
|
[NCBI]
|
0.00679224
|
|
|
FRNS
|
[NCBI]
|
0.0067499
|
|
|
CF
|
[NCBI]
|
0.0066425
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.00581669
|
|
|
EEC1
|
[NCBI]
|
0.00483823
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.00477595
|
|
|
NLS
|
[NCBI]
|
0.00452075
|
|
|
AIC
|
[NCBI]
|
0.0042705
|
|
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
0.00390723
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.00380936
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
0.00351427
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
0.00348368
|
|
|
JBTS1
|
[NCBI]
|
0.0033714
|
|
|
IDDM
|
[NCBI]
|
0.00303685
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.00300758
|
|
|
GPS
|
[NCBI]
|
0.0025361
|
|
|
AD
|
[NCBI]
|
0.00244078
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.0022973
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.00223543
|
|
|
gapo syndrome
|
[NCBI]
|
0.00223543
|
|
|
SMS
|
[NCBI]
|
0.00213873
|
|
|
WHS
|
[NCBI]
|
0.00208221
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.00207669
|
|
|
camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases
|
[NCBI]
|
0.00195571
|
|
|
syndactyly, type i, with microcephaly and mental retardation
|
[NCBI]
|
0.00195571
|
|
|
SDS
|
[NCBI]
|
0.00185359
|
|
|
CRC
|
[NCBI]
|
0.00183216
|
|
|
progeroid syndrome, neonatal
|
[NCBI]
|
0.00177808
|
|
|
POADS
|
[NCBI]
|
0.00177808
|
|
|
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
|
[NCBI]
|
0.00177088
|
|
|
maxillonasal dysplasia, binder type
|
[NCBI]
|
0.00167607
|
|
|
costello syndrome
|
[NCBI]
|
0.00163577
|
|
|
VWS
|
[NCBI]
|
0.00162282
|
|
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
0.00159437
|
|
|
arima syndrome
|
[NCBI]
|
0.00151088
|
|
|
blepharocheilodontic syndrome
|
[NCBI]
|
0.00151088
|
|
|
popliteal pterygium syndrome, lethal type
|
[NCBI]
|
0.00151088
|
|
|
ear, patella, short stature syndrome
|
[NCBI]
|
0.00150679
|
|
|
MKS1
|
[NCBI]
|
0.0014815
|
|
|
sotos syndrome
|
[NCBI]
|
0.00138668
|
|
|
MBS
|
[NCBI]
|
0.00137445
|
|
|
MG
|
[NCBI]
|
0.00134382
|
|
|
kenny-caffey syndrome, type 2
|
[NCBI]
|
0.00130923
|
|
|
PHS
|
[NCBI]
|
0.00129882
|
|
|
HOS
|
[NCBI]
|
0.00128447
|
|
|
aniridia, cerebellar ataxia, and mental deficiency
|
[NCBI]
|
0.00126432
|
|
|
GO
|
[NCBI]
|
0.00126432
|
|
|
corpus callosum, agenesis of, with facial anomalies and robin sequence
|
[NCBI]
|
0.0012538
|
|
|
peho syndrome
|
[NCBI]
|
0.0012538
|
|
|
UFS
|
[NCBI]
|
0.0012538
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
0.00124649
|
|
|
CJD
|
[NCBI]
|
0.00120572
|
|
|
COH1
|
[NCBI]
|
0.00119086
|
|
|
microcephalic osteodysplastic primordial dwarfism, type i
|
[NCBI]
|
0.00118755
|
|
|
ZLS
|
[NCBI]
|
0.00115078
|
|
|
faciogenital dysplasia
|
[NCBI]
|
0.00113842
|
|
|
ACLS
|
[NCBI]
|
0.00112625
|
|
|
MEHMO
|
[NCBI]
|
0.00111704
|
|
|
johnson neuroectodermal syndrome
|
[NCBI]
|
0.00111704
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.00110233
|
|
|
BPES
|
[NCBI]
|
0.0010974
|
|
|
ABS
|
[NCBI]
|
0.00109616
|
|
|
OKS
|
[NCBI]
|
0.00109616
|
|
|
TBS
|
[NCBI]
|
0.00108413
|
|
|
renal hamartomas, nephroblastomatosis, and fetal gigantism
|
[NCBI]
|
0.00108251
|
|
|
CLS
|
[NCBI]
|
0.00106024
|
|
|
RBS
|
[NCBI]
|
0.00105686
|
|
|
BRRS
|
[NCBI]
|
0.00103289
|
|
|
SGBS1
|
[NCBI]
|
0.00103195
|
|
|
oculocerebral syndrome with hypopigmentation
|
[NCBI]
|
0.00102695
|
|
|
hennekam lymphangiectasia-lymphedema syndrome
|
[NCBI]
|
0.00102695
|
|
|
kohlschutter-tonz syndrome
|
[NCBI]
|
0.00102695
|
|
|
hypertrichotic osteochondrodysplasia
|
[NCBI]
|
0.00102695
|
|
|
sneddon syndrome
|
[NCBI]
|
0.00102695
|
|
|
skin creases, multiple benign ring-shaped, of limbs
|
[NCBI]
|
0.00101894
|
|
|
JBTS2
|
[NCBI]
|
0.00100059
|
|
|
epiphyseal dysplasia, microcephaly, and nystagmus
|
[NCBI]
|
0.00100059
|
|
|
cayler cardiofacial syndrome
|
[NCBI]
|
0.000996822
|
|
|
lymphedema, microcephaly, chorioretinopathy syndrome
|
[NCBI]
|
0.000994629
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.000994629
|
|
|
BGS
|
[NCBI]
|
0.000972657
|
|
|
MTS
|
[NCBI]
|
0.000937154
|
|
|
STL1
|
[NCBI]
|
0.000907993
|
|
|
PD
|
[NCBI]
|
0.000907699
|
|
|
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging
|
[NCBI]
|
0.000906654
|
|
|
megacystis-microcolon-intestinal hypoperistalsis syndrome
|
[NCBI]
|
0.000906654
|
|
|
ALMS
|
[NCBI]
|
0.000890357
|
|
|
CVS
|
[NCBI]
|
0.000869515
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
0.000868412
|
|
|
walker-warburg syndrome
|
[NCBI]
|
0.000868412
|
|
|
HTC1
|
[NCBI]
|
0.000862675
|
|
|
gonadal dysgenesis, xx type, with deafness
|
[NCBI]
|
0.000862675
|
|
|
PKS
|
[NCBI]
|
0.000857926
|
|
|
GCPS
|
[NCBI]
|
0.000852715
|
|
|
usher syndrome, type i
|
[NCBI]
|
0.00085186
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
0.000844753
|
|
|
USH1E
|
[NCBI]
|
0.000837655
|
|
|
FGS2
|
[NCBI]
|
0.000837655
|
|
|
wieacker syndrome
|
[NCBI]
|
0.000837655
|
|
|
cerebrofaciothoracic dysplasia
|
[NCBI]
|
0.000837655
|
|
|
faciodigitogenital syndrome, recessive
|
[NCBI]
|
0.000837655
|
|
|
sabinas brittle hair syndrome
|
[NCBI]
|
0.000837655
|
|
|
branchiootic syndrome 2
|
[NCBI]
|
0.000837655
|
|
|
kaufman oculocerebrofacial syndrome
|
[NCBI]
|
0.000837655
|
|
|
WTS
|
[NCBI]
|
0.000837655
|
|
|
immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
|
[NCBI]
|
0.000837655
|
|
|
nablus mask-like facial syndrome
|
[NCBI]
|
0.000837655
|
|
|
behr syndrome
|
[NCBI]
|
0.000837655
|
|
|
mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
|
[NCBI]
|
0.000837655
|
|
|
triphalangeal thumbs with brachyectrodactyly
|
[NCBI]
|
0.000837655
|
|
|
BTHS
|
[NCBI]
|
0.000816024
|
|
|
SLC26A4
|
[NCBI]
|
0.00081377
|
|
|
PPR
|
[NCBI]
|
0.000812349
|
|
|
hypertelorism, teebi type
|
[NCBI]
|
0.000796296
|
|
|
ichthyosis follicularis, atrichia, and photophobia syndrome
|
[NCBI]
|
0.000796296
|
|
|
SPG23
|
[NCBI]
|
0.000796296
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
0.000796296
|
|
|
chorioretinal dystrophy, spinocerebellar ataxia, and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000796296
|
|
|
MCOPS7
|
[NCBI]
|
0.000795888
|
|
|
VEGF
|
[NCBI]
|
0.000795123
|
|
|
ATD1
|
[NCBI]
|
0.000771031
|
|
|
weaver syndrome
|
[NCBI]
|
0.000766431
|
|
|
bruck syndrome 1
|
[NCBI]
|
0.00075279
|
|
|
acromegaloid facial appearance syndrome
|
[NCBI]
|
0.00075279
|
|
|
VDEGS
|
[NCBI]
|
0.00075279
|
|
|
kbg syndrome
|
[NCBI]
|
0.00075279
|
|
|
ATRX
|
[NCBI]
|
0.000747024
|
|
|
PDS
|
[NCBI]
|
0.000714308
|
|
|
CES
|
[NCBI]
|
0.000704282
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
0.00068556
|
|
|
NHS
|
[NCBI]
|
0.000676461
|
|
|
PEE1
|
[NCBI]
|
0.000659195
|
|
|
digeorge syndrome/velocardiofacial syndrome spectrum of malformation 2
|
[NCBI]
|
0.00065174
|
|
|
schopf-schulz-passarge syndrome
|
[NCBI]
|
0.00065174
|
|
|
dyssegmental dysplasia, rolland-desbuquois type
|
[NCBI]
|
0.00065174
|
|
|
cranioectodermal dysplasia
|
[NCBI]
|
0.00065174
|
|
|
charge syndrome
|
[NCBI]
|
0.000650386
|
|
|
CD
|
[NCBI]
|
0.000647723
|
|
|
MRXHF1
|
[NCBI]
|
0.000645476
|
|
|
SPS
|
[NCBI]
|
0.000641814
|
|
|
ALPS
|
[NCBI]
|
0.000637103
|
|
|
proteus syndrome
|
[NCBI]
|
0.000635392
|
|
|
palatopharyngeal incompetence
|
[NCBI]
|
0.000634024
|
|
|
facial ectodermal dysplasia
|
[NCBI]
|
0.000633592
|
|
|
FSHMD1A
|
[NCBI]
|
0.000615976
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
0.000609067
|
|
|
BFLS
|
[NCBI]
|
0.000602642
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
0.000593893
|
|
|
BOR1
|
[NCBI]
|
0.000588487
|
|
|
fraser syndrome
|
[NCBI]
|
0.000588487
|
|
|
ATRX
|
[NCBI]
|
0.000585464
|
|
|
MKS2
|
[NCBI]
|
0.000574845
|
|
|
lethal congenital contracture syndrome 1
|
[NCBI]
|
0.000574845
|
|
|
microcephalic osteodysplastic primordial dwarfism, type iii
|
[NCBI]
|
0.000574845
|
|
|
TNF
|
[NCBI]
|
0.000574206
|
|
|
AAA
|
[NCBI]
|
0.000567718
|
|
|
oculopalatocerebral syndrome
|
[NCBI]
|
0.000558353
|
|
|
brooks-wisniewski-brown syndrome
|
[NCBI]
|
0.000558353
|
|
|
acropectorovertebral dysplasia, f-form of
|
[NCBI]
|
0.000558353
|
|
|
knobloch syndrome, type ii
|
[NCBI]
|
0.000558353
|
|
|
alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality
|
[NCBI]
|
0.000558353
|
|
|
cryptophthalmos, unilateral or bilateral, isolated
|
[NCBI]
|
0.000558353
|
|
|
otoonychoperoneal syndrome
|
[NCBI]
|
0.000558353
|
|
|
PRS
|
[NCBI]
|
0.000558353
|
|
|
HFH
|
[NCBI]
|
0.000558353
|
|
|
scholte syndrome
|
[NCBI]
|
0.000558353
|
|
|
cerebrooculonasal syndrome
|
[NCBI]
|
0.000558353
|
|
|
cdags syndrome
|
[NCBI]
|
0.000558353
|
|
|
singleton-merten syndrome
|
[NCBI]
|
0.000558353
|
|
|
TAZ
|
[NCBI]
|
0.000552209
|
|
|
MKKS
|
[NCBI]
|
0.000552117
|
|
|
WBS
|
[NCBI]
|
0.000545709
|
|
|
microcephalic osteodysplastic primordial dwarfism, type ii
|
[NCBI]
|
0.000542918
|
|
|
microcephaly, hiatus hernia, and nephrotic syndrome
|
[NCBI]
|
0.000540907
|
|
|
cortisol 11-beta-ketoreductase deficiency
|
[NCBI]
|
0.0005401
|
|
|
FOXL2
|
[NCBI]
|
0.000535768
|
|
|
lymphoma, non-hodgkin, familial
|
[NCBI]
|
0.000534349
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
0.000530564
|
|
|
MDLS
|
[NCBI]
|
0.000530564
|
|
|
poland syndrome
|
[NCBI]
|
0.000523107
|
|
|
MYO7A
|
[NCBI]
|
0.000520421
|
|
|
CFNS
|
[NCBI]
|
0.000516038
|
|
|
hypertelorism, microtia, facial clefting syndrome
|
[NCBI]
|
0.000513147
|
|
|
campomelia, cumming type
|
[NCBI]
|
0.000513147
|
|
|
RIEG2
|
[NCBI]
|
0.000513147
|
|
|
leri pleonosteosis
|
[NCBI]
|
0.000513147
|
|
|
trichohepatoenteric syndrome
|
[NCBI]
|
0.000513147
|
|
|
KLK3
|
[NCBI]
|
0.000512556
|
|
|
RHS
|
[NCBI]
|
0.000511835
|
|
|
COFS1
|
[NCBI]
|
0.000510837
|
|
|
pitt syndrome
|
[NCBI]
|
0.000510837
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
0.000506987
|
|
|
hemangioma-thrombocytopenia syndrome
|
[NCBI]
|
0.000491441
|
|
|
TS
|
[NCBI]
|
0.000490266
|
|
|
myeloproliferative syndrome, transient
|
[NCBI]
|
0.000485661
|
|
|
DMC
|
[NCBI]
|
0.0004813
|
|
|
EEC3
|
[NCBI]
|
0.0004813
|
|
|
pearson marrow-pancreas syndrome
|
[NCBI]
|
0.0004813
|
|
|
UMS
|
[NCBI]
|
0.000473046
|
|
|
MDD
|
[NCBI]
|
0.000471318
|
|
|
c syndrome
|
[NCBI]
|
0.000469759
|
|
|
NSD1
|
[NCBI]
|
0.000456391
|
|
|
papillorenal syndrome
|
[NCBI]
|
0.000456317
|
|
|
keratitis-ichthyosis-deafness syndrome, autosomal dominant
|
[NCBI]
|
0.000456317
|
|
|
FGFR2
|
[NCBI]
|
0.000454879
|
|
|
USH2A
|
[NCBI]
|
0.000454526
|
|
|
short rib-polydactyly syndrome, type i
|
[NCBI]
|
0.000452843
|
|
|
TRPS2
|
[NCBI]
|
0.000452072
|
|
|
DA2A
|
[NCBI]
|
0.00045024
|
|
|
autism
|
[NCBI]
|
0.000441826
|
|
|
DWS
|
[NCBI]
|
0.000441826
|
|
|
PPS
|
[NCBI]
|
0.000438518
|
|
|
PAX2
|
[NCBI]
|
0.000438466
|
|
|
restless legs syndrome, susceptibility to, 1
|
[NCBI]
|
0.000437412
|
|
|
MAFD6
|
[NCBI]
|
0.000437412
|
|
|
KNO
|
[NCBI]
|
0.000432978
|
|
|
GLI3
|
[NCBI]
|
0.000429602
|
|
|
ALGS1
|
[NCBI]
|
0.000428634
|
|
|
TP73L
|
[NCBI]
|
0.00042132
|
|
|
TRPS1
|
[NCBI]
|
0.000417952
|
|
|
TBX5
|
[NCBI]
|
0.000416969
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.000405728
|
|
|
JBS
|
[NCBI]
|
0.000402619
|
|
|
mowat-wilson syndrome
|
[NCBI]
|
0.000401409
|
|
|
LMS
|
[NCBI]
|
0.000401409
|
|
|
CD
|
[NCBI]
|
0.000398732
|
|
|
masa syndrome
|
[NCBI]
|
0.000397679
|
|
|
CEACAM5
|
[NCBI]
|
0.000397229
|
|
|
EVA
|
[NCBI]
|
0.000395909
|
|
|
mismatch repair cancer syndrome
|
[NCBI]
|
0.000395062
|
|
|
multiple pterygium syndrome, lethal type
|
[NCBI]
|
0.000388137
|
|
|
WZS
|
[NCBI]
|
0.000388137
|
|
|
adult syndrome
|
[NCBI]
|
0.000388137
|
|
|
LADD
|
[NCBI]
|
0.000388137
|
|
|
L1CAM
|
[NCBI]
|
0.000382301
|
|
|
HRD
|
[NCBI]
|
0.000379818
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
0.000379603
|
|
|
OFD4
|
[NCBI]
|
0.000379603
|
|
|
ALMS1
|
[NCBI]
|
0.000379312
|
|
|
LRS1
|
[NCBI]
|
0.000378395
|
|
|
JBS
|
[NCBI]
|
0.000377798
|
|
|
BWCNS
|
[NCBI]
|
0.000366877
|
|
|
bulbar palsy, progressive, with sensorineural deafness
|
[NCBI]
|
0.000366877
|
|
|
lateral meningocele syndrome
|
[NCBI]
|
0.000366877
|
|
|
auriculocondylar syndrome
|
[NCBI]
|
0.000366877
|
|
|
USH2B
|
[NCBI]
|
0.000366877
|
|
|
hand-foot-uterus syndrome
|
[NCBI]
|
0.000361855
|
|
|
HHS
|
[NCBI]
|
0.000361855
|
|
|
peeling skin syndrome
|
[NCBI]
|
0.000361732
|
|
|
EGF
|
[NCBI]
|
0.000361715
|
|
|
ESCS
|
[NCBI]
|
0.000361135
|
|
|
ZS
|
[NCBI]
|
0.000360197
|
|
|
OPPG
|
[NCBI]
|
0.000358462
|
|
|
OPD2
|
[NCBI]
|
0.000358462
|
|
|
GTS
|
[NCBI]
|
0.000356111
|
|
|
EGFR
|
[NCBI]
|
0.000351734
|
|
|
RIEG1
|
[NCBI]
|
0.000351187
|
|
|
chiari malformation type i
|
[NCBI]
|
0.000343237
|
|
|
seckel syndrome 1
|
[NCBI]
|
0.00034084
|
|
|
floating-harbor syndrome
|
[NCBI]
|
0.000338133
|
|
|
USH3
|
[NCBI]
|
0.000322621
|
|
|
COL2A1
|
[NCBI]
|
0.000321339
|
|
|
MTS
|
[NCBI]
|
0.000321004
|
|
|
marshall syndrome
|
[NCBI]
|
0.000321004
|
|
|
WT1
|
[NCBI]
|
0.000320836
|
|
|
CNC1
|
[NCBI]
|
0.000320763
|
|
|
MYH9
|
[NCBI]
|
0.000320633
|
|
|
diabetes mellitus, insulin-dependent, 2
|
[NCBI]
|
0.000320265
|
|
|
AFD1
|
[NCBI]
|
0.000319273
|
|
|
BZX
|
[NCBI]
|
0.000318924
|
|
|
DBQD
|
[NCBI]
|
0.000318924
|
|
|
SALL1
|
[NCBI]
|
0.000312664
|
|
|
RAI1
|
[NCBI]
|
0.000312664
|
|
|
KCS
|
[NCBI]
|
0.000307445
|
|
|
JWS
|
[NCBI]
|
0.000307445
|
|
|
SBS
|
[NCBI]
|
0.000307445
|
|
|
USH1D
|
[NCBI]
|
0.000307445
|
|
|
ankyloblepharon-ectodermal defects-cleft lip/palate
|
[NCBI]
|
0.000307445
|
|
|
sc phocomelia syndrome
|
[NCBI]
|
0.000307445
|
|
|
FTL
|
[NCBI]
|
0.000307119
|
|
|
AAAS
|
[NCBI]
|
0.000306083
|
|
|
young-simpson syndrome
|
[NCBI]
|
0.000303059
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
0.000303059
|
|
|
MCOPS2
|
[NCBI]
|
0.000301847
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
0.000301847
|
|
|
DGS
|
[NCBI]
|
0.000301656
|
|
|
amyloidosis vi
|
[NCBI]
|
0.000300804
|
|
|
AGS1
|
[NCBI]
|
0.000297575
|
|
|
peters-plus syndrome
|
[NCBI]
|
0.000296632
|
|
|
martsolf syndrome
|
[NCBI]
|
0.000296632
|
|
|
USH3A
|
[NCBI]
|
0.000294988
|
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome
|
[NCBI]
|
0.000293397
|
|
|
INSR
|
[NCBI]
|
0.000291567
|
|
|
laurin-sandrow syndrome
|
[NCBI]
|
0.000290646
|
|
|
acrodysostosis
|
[NCBI]
|
0.000290646
|
|
|
PITX2
|
[NCBI]
|
0.000289735
|
|
|
axenfeld-rieger anomaly with cardiac defects and sensorineural hearing loss
|
[NCBI]
|
0.000287287
|
|
|
anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
|
[NCBI]
|
0.000287287
|
|
|
EPV
|
[NCBI]
|
0.000287287
|
|
|
DIH2
|
[NCBI]
|
0.000287287
|
|
|
OFD5
|
[NCBI]
|
0.000287287
|
|
|
frontofacionasal dysostosis
|
[NCBI]
|
0.000287287
|
|
|
pontocerebellar hypoplasia, type 2
|
[NCBI]
|
0.000287287
|
|
|
hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
|
[NCBI]
|
0.000287287
|
|
|
van der woude syndrome modifier
|
[NCBI]
|
0.000287287
|
|
|
SPG9
|
[NCBI]
|
0.000287287
|
|
|
mental retardation with optic atrophy, deafness, and seizures
|
[NCBI]
|
0.000287287
|
|
|
mucoepithelial dysplasia, hereditary
|
[NCBI]
|
0.000287287
|
|
|
alopecia-mental retardation syndrome 1
|
[NCBI]
|
0.000287287
|
|
|
ichthyosis prematurity syndrome
|
[NCBI]
|
0.000287287
|
|
|
macrocephaly with multiple epiphyseal dysplasia and distinctive facies
|
[NCBI]
|
0.000287287
|
|
|
DKC
|
[NCBI]
|
0.000284335
|
|
|
APC
|
[NCBI]
|
0.000284178
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
0.000284011
|
|
|
liddle syndrome
|
[NCBI]
|
0.000283764
|
|
|
kindler syndrome
|
[NCBI]
|
0.000283764
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
0.000283764
|
|
|
NBS1
|
[NCBI]
|
0.000279611
|
|
|
LAP
|
[NCBI]
|
0.000279134
|
|
|
CFEOM3A
|
[NCBI]
|
0.000279134
|
|
|
S CRAMP
|
[NCBI]
|
0.000279134
|
|
|
acromegaloid features, overgrowth, cleft palate, and hernia
|
[NCBI]
|
0.000279134
|
|
|
tukel syndrome
|
[NCBI]
|
0.000279134
|
|
|
cardiomyopathy, fatal fetal, due to myocardial calcification
|
[NCBI]
|
0.000279134
|
|
|
wittwer syndrome
|
[NCBI]
|
0.000279134
|
|
|
vertebral ossification, defect in, with nephrogenic rests
|
[NCBI]
|
0.000279134
|
|
|
RESDAD
|
[NCBI]
|
0.000279134
|
|
|
reticuloendotheliosis, x-linked
|
[NCBI]
|
0.000279134
|
|
|
angiomatosis, diffuse corticomeningeal, of divry and van bogaert
|
[NCBI]
|
0.000279134
|
|
|
ventriculomegaly with defects of the radius and kidney
|
[NCBI]
|
0.000279134
|
|
|
MCS
|
[NCBI]
|
0.000279134
|
|
|
microcephaly-micromelia syndrome
|
[NCBI]
|
0.000279134
|
|
|
MRXS11
|
[NCBI]
|
0.000279134
|
|
|
DFNA25
|
[NCBI]
|
0.000279134
|
|
|
coloboma-obesity-hypogenitalism-mental retardation syndrome
|
[NCBI]
|
0.000279134
|
|
|
pelvic lipomatosis with crossed renal ectopia
|
[NCBI]
|
0.000279134
|
|
|
ectopia lentis, spontaneous filtering blebs, and craniofacial dysmorphism
|
[NCBI]
|
0.000279134
|
|
|
acropectoral syndrome
|
[NCBI]
|
0.000279134
|
|
|
CORDX2
|
[NCBI]
|
0.000279134
|
|
|
mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration
|
[NCBI]
|
0.000279134
|
|
|
DFNA49
|
[NCBI]
|
0.000279134
|
|
|
hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
|
[NCBI]
|
0.000279134
|
|
|
SCKL3
|
[NCBI]
|
0.000279134
|
|
|
heart-hand syndrome, slovenian type
|
[NCBI]
|
0.000279134
|
|
|
armfield x-linked mental retardation syndrome
|
[NCBI]
|
0.000279134
|
|
|
curly hair-acral keratoderma-caries syndrome
|
[NCBI]
|
0.000279134
|
|
|
van der woude syndrome 2
|
[NCBI]
|
0.000279134
|
|
|
basaloid follicular hamartoma syndrome, generalized, autosomal dominant
|
[NCBI]
|
0.000279134
|
|
|
FGS3
|
[NCBI]
|
0.000279134
|
|
|
SCKL2
|
[NCBI]
|
0.000279134
|
|
|
multiple mitochondrial dysfunctions syndrome
|
[NCBI]
|
0.000279134
|
|
|
protrusio acetabuli
|
[NCBI]
|
0.000279134
|
|
|
aphalangia, partial, with syndactyly and duplication of metatarsal iv
|
[NCBI]
|
0.000279134
|
|
|
SLSN3
|
[NCBI]
|
0.000279134
|
|
|
martin-probst deafness-mental retardation syndrome
|
[NCBI]
|
0.000279134
|
|
|
asperger syndrome, susceptibility to, 2
|
[NCBI]
|
0.000279134
|
|
|
MRXS12
|
[NCBI]
|
0.000279134
|
|
|
EMWX
|
[NCBI]
|
0.000279134
|
|
|
larsen-like syndrome
|
[NCBI]
|
0.000279134
|
|
|
3q29 microdeletion syndrome
|
[NCBI]
|
0.000279134
|
|
|
alopecia-mental retardation syndrome 2
|
[NCBI]
|
0.000279134
|
|
|
DFNA24
|
[NCBI]
|
0.000279134
|
|
|
tremor, nystagmus, and duodenal ulcer
|
[NCBI]
|
0.000279134
|
|
|
dermal ridges-off-the-end
|
[NCBI]
|
0.000279134
|
|
|
triphalangeal thumb, nonopposable
|
[NCBI]
|
0.000279134
|
|
|
short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting
|
[NCBI]
|
0.000279134
|
|
|
dermatoglyphics--fingerprint pattern
|
[NCBI]
|
0.000279134
|
|
|
erythrokeratodermia with ataxia
|
[NCBI]
|
0.000279134
|
|
|
spondyloepiphyseal dysplasia-brachydactyly and distinctive speech
|
[NCBI]
|
0.000279134
|
|
|
camptobrachydactyly
|
[NCBI]
|
0.000279134
|
|
|
FGS4
|
[NCBI]
|
0.000279134
|
|
|
mental retardation, truncal obesity, retinal dystrophy, and micropenis
|
[NCBI]
|
0.000279134
|
|
|
DFNA31
|
[NCBI]
|
0.000279134
|
|
|
FTD
|
[NCBI]
|
0.000278888
|
|
|
temporal arteritis
|
[NCBI]
|
0.000274812
|
|
|
BHD
|
[NCBI]
|
0.000274291
|
|
|
HOXA13
|
[NCBI]
|
0.000273507
|
|
|
XK
|
[NCBI]
|
0.000272525
|
|
|
SCNN1B
|
[NCBI]
|
0.00027132
|
|
|
cutis laxa, corneal clouding, and mental retardation
|
[NCBI]
|
0.000271219
|
|
|
cholestasis-lymphedema syndrome
|
[NCBI]
|
0.000271219
|
|
|
vestibulopathy, familial
|
[NCBI]
|
0.000271219
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
0.000271219
|
|
|
trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina
|
[NCBI]
|
0.000271219
|
|
|
denys-drash syndrome
|
[NCBI]
|
0.000268357
|
|
|
blue rubber bleb nevus
|
[NCBI]
|
0.00026767
|
|
|
SLOS
|
[NCBI]
|
0.000266602
|
|
|
GPC3
|
[NCBI]
|
0.000266107
|
|
|
KAL1
|
[NCBI]
|
0.000265691
|
|
|
USH1C
|
[NCBI]
|
0.000264239
|
|
|
congenital cataracts, facial dysmorphism, and neuropathy
|
[NCBI]
|
0.000264239
|
|
|
HIDS
|
[NCBI]
|
0.000263864
|
|
|
PQBP1
|
[NCBI]
|
0.00026362
|
|
|
RPS6KA3
|
[NCBI]
|
0.000261457
|
|
|
CDG1A
|
[NCBI]
|
0.000260579
|
|
|
USH2C
|
[NCBI]
|
0.000259758
|
|
|
aplasia cutis congenita with epibulbar dermoids
|
[NCBI]
|
0.000259758
|
|
|
TRPS3
|
[NCBI]
|
0.000259758
|
|
|
zunich neuroectodermal syndrome
|
[NCBI]
|
0.000259758
|
|
|
USH1C
|
[NCBI]
|
0.000256581
|
|
|
polycystic kidneys
|
[NCBI]
|
0.000255393
|
|
|
synovitis, granulomatous, with uveitis and cranial neuropathies
|
[NCBI]
|
0.000254404
|
|
|
IGAD1
|
[NCBI]
|
0.000253038
|
|
|
TBX3
|
[NCBI]
|
0.000247885
|
|
|
currarino syndrome
|
[NCBI]
|
0.000247562
|
|
|
potocki-shaffer syndrome
|
[NCBI]
|
0.000247562
|
|
|
CVID
|
[NCBI]
|
0.000247045
|
|
|
ulna and fibula, absence of, with severe limb deficiency
|
[NCBI]
|
0.000245363
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
0.000245363
|
|
|
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
|
[NCBI]
|
0.000245363
|
|
|
WAS
|
[NCBI]
|
0.00024528
|
|
|
brugada syndrome 1
|
[NCBI]
|
0.000241864
|
|
|
ZEB2
|
[NCBI]
|
0.000235132
|
|
|
CDPX2
|
[NCBI]
|
0.000235114
|
|
|
FGD1
|
[NCBI]
|
0.000234696
|
|
|
gordon syndrome
|
[NCBI]
|
0.000233716
|
|
|
PCA
|
[NCBI]
|
0.000233716
|
|
|
spiegler-brooke syndrome
|
[NCBI]
|
0.000233716
|
|
|
tibia, hypoplasia of, with polydactyly
|
[NCBI]
|
0.000233716
|
|
|
cerebrocostomandibular syndrome
|
[NCBI]
|
0.00023299
|
|
|
OPD1
|
[NCBI]
|
0.00023299
|
|
|
feingold syndrome
|
[NCBI]
|
0.00023299
|
|
|
SLSN1
|
[NCBI]
|
0.000232141
|
|
|
whistling face syndrome, recessive form
|
[NCBI]
|
0.000228101
|
|
|
ROR2
|
[NCBI]
|
0.000228054
|
|
|
SCDO1
|
[NCBI]
|
0.000227466
|
|
|
WSS
|
[NCBI]
|
0.00022719
|
|
|
oculocerebrocutaneous syndrome
|
[NCBI]
|
0.00022719
|
|
|
FFS
|
[NCBI]
|
0.00022719
|
|
|
PTEN
|
[NCBI]
|
0.000225695
|
|
|
GRB10
|
[NCBI]
|
0.000224439
|
|
|
IRF6
|
[NCBI]
|
0.0002216
|
|
|
USH2A
|
[NCBI]
|
0.0002216
|
|
|
muckle-wells syndrome
|
[NCBI]
|
0.000220051
|
|
|
FTNS
|
[NCBI]
|
0.000220051
|
|
|
GIST
|
[NCBI]
|
0.000219541
|
|
|
GCS1
|
[NCBI]
|
0.000216458
|
|
|
progeroid short stature with pigmented nevi
|
[NCBI]
|
0.000216458
|
|
|
PTHS
|
[NCBI]
|
0.000216458
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
0.000216458
|
|
|
AFP
|
[NCBI]
|
0.000214485
|
|
|
donnai-barrow syndrome
|
[NCBI]
|
0.000214382
|
|
|
marshall-smith syndrome
|
[NCBI]
|
0.000214382
|
|
|
RSMD1
|
[NCBI]
|
0.000214159
|
|
|
SYNS1
|
[NCBI]
|
0.000211761
|
|
|
RENS1
|
[NCBI]
|
0.000211761
|
|
|
APOE
|
[NCBI]
|
0.000211186
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
0.000210177
|
|
|
OPTB3
|
[NCBI]
|
0.000210177
|
|
|
IPEX
|
[NCBI]
|
0.000210177
|
|
|
trichodentoosseous syndrome
|
[NCBI]
|
0.000208421
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
0.000208401
|
|
|
FCAS
|
[NCBI]
|
0.000207926
|
|
|
OFC1
|
[NCBI]
|
0.000207857
|
|
|
opitz syndrome
|
[NCBI]
|
0.00020752
|
|
|
char syndrome
|
[NCBI]
|
0.00020752
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
0.00020752
|
|
|
trismus-pseudocamptodactyly syndrome
|
[NCBI]
|
0.00020752
|
|
|
HHF6
|
[NCBI]
|
0.00020752
|
|
|
POMT1
|
[NCBI]
|
0.00020666
|
|
|
leopard syndrome 1
|
[NCBI]
|
0.00020626
|
|
|
sclerotylosis
|
[NCBI]
|
0.000202663
|
|
|
HMN7A
|
[NCBI]
|
0.000202663
|
|
|
microphthalmia with limb anomalies
|
[NCBI]
|
0.000202663
|
|
|
periodic fever, familial, autosomal dominant
|
[NCBI]
|
0.000201949
|
|
|
mulibrey nanism
|
[NCBI]
|
0.000197869
|
|
|
GJB2
|
[NCBI]
|
0.0001978
|
|
|
GFAP
|
[NCBI]
|
0.000193724
|
|
|
FA
|
[NCBI]
|
0.000193659
|
|
|
MNS
|
[NCBI]
|
0.000192822
|
|
|
PMDS
|
[NCBI]
|
0.000190823
|
|
|
megalencephaly-cutis marmorata telangiectatica congenita
|
[NCBI]
|
0.000190823
|
|
|
MODY
|
[NCBI]
|
0.000190327
|
|
|
rokitansky-kuster-hauser syndrome
|
[NCBI]
|
0.000189155
|
|
|
WARBM
|
[NCBI]
|
0.000189155
|
|
|
elejalde disease
|
[NCBI]
|
0.000189155
|
|
|
TRMA
|
[NCBI]
|
0.000188222
|
|
|
SLC19A2
|
[NCBI]
|
0.000186507
|
|
|
CACP
|
[NCBI]
|
0.000186491
|
|
|
CHD7
|
[NCBI]
|
0.000183953
|
|
|
THRB
|
[NCBI]
|
0.000182773
|
|
|
pyle disease
|
[NCBI]
|
0.000180759
|
|
|
nievergelt syndrome
|
[NCBI]
|
0.000180759
|
|
|
hypokalemia, familial
|
[NCBI]
|
0.000180759
|
|
|
onychotrichodysplasia and neutropenia
|
[NCBI]
|
0.000180759
|
|
|
rosselli-gulienetti syndrome
|
[NCBI]
|
0.000180759
|
|
|
terminal osseous dysplasia and pigmentary defects
|
[NCBI]
|
0.000180759
|
|
|
renal-hepatic-pancreatic dysplasia with dandy-walker cyst
|
[NCBI]
|
0.000180759
|
|
|
TKCR
|
[NCBI]
|
0.000180759
|
|
|
AMMECR1
|
[NCBI]
|
0.000180759
|
|
|
genitopatellar syndrome
|
[NCBI]
|
0.000180759
|
|
|
bullous dystrophy, hereditary macular type
|
[NCBI]
|
0.000180759
|
|
|
buschke-ollendorff syndrome
|
[NCBI]
|
0.000179344
|
|
|
TTDP
|
[NCBI]
|
0.000179344
|
|
|
TIMM8A
|
[NCBI]
|
0.000178212
|
|
|
CEP290
|
[NCBI]
|
0.000178212
|
|
|
tyrosine transaminase deficiency
|
[NCBI]
|
0.000177002
|
|
|
chromosome 22q13.3 deletion syndrome
|
[NCBI]
|
0.000176747
|
|
|
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
|
[NCBI]
|
0.000176747
|
|
|
ODDD
|
[NCBI]
|
0.000176012
|
|
|
aglossia-adactylia
|
[NCBI]
|
0.000173798
|
|
|
cerebellotrigeminal dermal dysplasia
|
[NCBI]
|
0.000173798
|
|
|
frasier syndrome
|
[NCBI]
|
0.000173798
|
|
|
MONA
|
[NCBI]
|
0.000173798
|
|
|
SPS
|
[NCBI]
|
0.000173798
|
|
|
c-like syndrome
|
[NCBI]
|
0.000173798
|
|
|
LOCS
|
[NCBI]
|
0.000173162
|
|
|
brachycephaly, deafness, cataract, microstomia, and mental retardation
|
[NCBI]
|
0.000173162
|
|
|
gurrieri syndrome
|
[NCBI]
|
0.000173162
|
|
|
say syndrome
|
[NCBI]
|
0.000173162
|
|
|
weill-marchesani syndrome, autosomal dominant
|
[NCBI]
|
0.000173162
|
|
|
ivic syndrome
|
[NCBI]
|
0.000173162
|
|
|
intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies
|
[NCBI]
|
0.000173162
|
|
|
gombo syndrome
|
[NCBI]
|
0.000173162
|
|
|
USH1F
|
[NCBI]
|
0.000173162
|
|
|
PWS
|
[NCBI]
|
0.000173114
|
|
|
NGFB
|
[NCBI]
|
0.000171668
|
|
|
SPINK5
|
[NCBI]
|
0.000171013
|
|
|
campomelic dysplasia
|
[NCBI]
|
0.000170578
|
|
|
catel-manzke syndrome
|
[NCBI]
|
0.000170379
|
|
|
vacterl association with hydrocephalus, x-linked
|
[NCBI]
|
0.000170379
|
|
|
ARX
|
[NCBI]
|
0.000170375
|
|
|
NHS
|
[NCBI]
|
0.00016934
|
|
|
HRPT2
|
[NCBI]
|
0.00016934
|
|
|
COH1
|
[NCBI]
|
0.000168536
|
|
|
VPS33B
|
[NCBI]
|
0.000168536
|
|
|
CTS1
|
[NCBI]
|
0.000168436
|
|
|
CDH23
|
[NCBI]
|
0.00016814
|
|
|
MPO
|
[NCBI]
|
0.000167216
|
|
|
autonomic control, congenital failure of
|
[NCBI]
|
0.000166872
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
0.000166278
|
|
|
FMF
|
[NCBI]
|
0.000166219
|
|
|
PXE
|
[NCBI]
|
0.000165926
|
|
|
MJD
|
[NCBI]
|
0.000164733
|
|
|
three m syndrome
|
[NCBI]
|
0.000164582
|
|
|
RNS
|
[NCBI]
|
0.000164582
|
|
|
KAL2
|
[NCBI]
|
0.000164221
|
|
|
NOG
|
[NCBI]
|
0.00016413
|
|
|
FDH
|
[NCBI]
|
0.000161543
|
|
|
SCS
|
[NCBI]
|
0.000161543
|
|
|
RAB27A
|
[NCBI]
|
0.000158946
|
|
|
COL11A1
|
[NCBI]
|
0.000158946
|
|
|
MHA
|
[NCBI]
|
0.000158054
|
|
|
NETH
|
[NCBI]
|
0.000157531
|
|
|
SCCMS
|
[NCBI]
|
0.000157531
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
0.000155307
|
|
|
GS1
|
[NCBI]
|
0.000155307
|
|
|
weill-marchesani syndrome, autosomal recessive
|
[NCBI]
|
0.000155307
|
|
|
HRAS
|
[NCBI]
|
0.000154665
|
|
|
PCDH15
|
[NCBI]
|
0.000153777
|
|
|
cataract and cardiomyopathy
|
[NCBI]
|
0.000151299
|
|
|
ichthyosiform erythroderma, corneal involvement, and deafness
|
[NCBI]
|
0.000150895
|
|
|
monosomy 1p36 syndrome
|
[NCBI]
|
0.000150895
|
|
|
young syndrome
|
[NCBI]
|
0.000150895
|
|
|
keutel syndrome
|
[NCBI]
|
0.000150895
|
|
|
ruvalcaba syndrome
|
[NCBI]
|
0.000150895
|
|
|
spondylocarpotarsal synostosis syndrome
|
[NCBI]
|
0.000150895
|
|
|
acrofacial dysostosis syndrome of rodriguez
|
[NCBI]
|
0.000150895
|
|
|
EPO
|
[NCBI]
|
0.000150802
|
|
|
AMH
|
[NCBI]
|
0.000150612
|
|
|
HRPT2
|
[NCBI]
|
0.000149507
|
|
|
omenn syndrome
|
[NCBI]
|
0.000149507
|
|
|
FLNA
|
[NCBI]
|
0.000149303
|
|
|
SHFLD1
|
[NCBI]
|
0.000149248
|
|
|
APS2
|
[NCBI]
|
0.000149248
|
|
|
EBP
|
[NCBI]
|
0.000149052
|
|
|
MRD
|
[NCBI]
|
0.000148455
|
|
|
SCN5A
|
[NCBI]
|
0.000147345
|
|
|
PTH
|
[NCBI]
|
0.000145493
|
|
|
CMM
|
[NCBI]
|
0.000145012
|
|
|
SLC12A3
|
[NCBI]
|
0.000144701
|
|
|
CDS
|
[NCBI]
|
0.00014435
|
|
|
stuve-wiedemann syndrome
|
[NCBI]
|
0.00014435
|
|
|
HLXB9
|
[NCBI]
|
0.000143809
|
|
|
YWHAE
|
[NCBI]
|
0.000143809
|
|
|
SBDS
|
[NCBI]
|
0.000143809
|
|
|
CRH
|
[NCBI]
|
0.000143179
|
|
|
TINU
|
[NCBI]
|
0.000142706
|
|
|
gitelman syndrome
|
[NCBI]
|
0.000142706
|
|
|
CLPED1
|
[NCBI]
|
0.000142706
|
|
|
hypoparathyroidism, sensorineural deafness, and renal disease
|
[NCBI]
|
0.000142706
|
|
|
MYO5A
|
[NCBI]
|
0.0001425
|
|
|
POR
|
[NCBI]
|
0.0001425
|
|
|
BBS
|
[NCBI]
|
0.000140844
|
|
|
MBP
|
[NCBI]
|
0.000138832
|
|
|
LMNA
|
[NCBI]
|
0.000137234
|
|
|
MEB
|
[NCBI]
|
0.000137009
|
|
|
MSS
|
[NCBI]
|
0.000136349
|
|
|
TFAP2B
|
[NCBI]
|
0.000136206
|
|
|
HIC1
|
[NCBI]
|
0.000136206
|
|
|
alpha-thalassemia/mental retardation syndrome, deletion-type
|
[NCBI]
|
0.000135767
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
0.000135767
|
|
|
VUR1
|
[NCBI]
|
0.000134217
|
|
|
EDMD
|
[NCBI]
|
0.000134179
|
|
|
JBTS3
|
[NCBI]
|
0.000134151
|
|
|
arthrogryposis, renal dysfunction, and cholestasis
|
[NCBI]
|
0.000134151
|
|
|
short syndrome
|
[NCBI]
|
0.000134151
|
|
|
phace association
|
[NCBI]
|
0.000134151
|
|
|
vacterl association with hydrocephalus
|
[NCBI]
|
0.000134151
|
|
|
jejunal atresia with microcephaly and ocular anomalies
|
[NCBI]
|
0.000133765
|
|
|
malpuech facial clefting syndrome
|
[NCBI]
|
0.000133765
|
|
|
camptomelic syndrome, long-limb type
|
[NCBI]
|
0.000133765
|
|
|
barber-say syndrome
|
[NCBI]
|
0.000133765
|
|
|
MKS3
|
[NCBI]
|
0.000133765
|
|
|
scalp-ear-nipple syndrome
|
[NCBI]
|
0.000133765
|
|
|
recombinant chromosome 8 syndrome
|
[NCBI]
|
0.000133765
|
|
|
hemangiomas, cavernous, of face and supraumbilical midline raphe
|
[NCBI]
|
0.000133765
|
|
|
cutis gyrata syndrome of beare and stevenson
|
[NCBI]
|
0.000133765
|
|
|
acrorenal-mandibular syndrome
|
[NCBI]
|
0.000133765
|
|
|
hunter-mcalpine craniosynostosis syndrome
|
[NCBI]
|
0.000133765
|
|
|
pterygia, mental retardation, and distinctive craniofacial features
|
[NCBI]
|
0.000133765
|
|
|
aprosencephaly syndrome
|
[NCBI]
|
0.000133765
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
0.000131894
|
|
|
IRID2
|
[NCBI]
|
0.000131894
|
|
|
GS2
|
[NCBI]
|
0.000131894
|
|
|
GHR
|
[NCBI]
|
0.000131794
|
|
|
MYH8
|
[NCBI]
|
0.000130861
|
|
|
TTDN1
|
[NCBI]
|
0.000130861
|
|
|
DCX
|
[NCBI]
|
0.000130672
|
|
|
COL18A1
|
[NCBI]
|
0.000130672
|
|
|
FLCN
|
[NCBI]
|
0.000130672
|
|
|
PAFAH1B1
|
[NCBI]
|
0.000130104
|
|
|
crisponi syndrome
|
[NCBI]
|
0.000129868
|
|
|
gastrointestinal abnormalities, multiple
|
[NCBI]
|
0.000129868
|
|
|
aarskog syndrome
|
[NCBI]
|
0.000129868
|
|
|
retinopathy, pigmentary, and mental retardation
|
[NCBI]
|
0.000129868
|
|
|
yemenite deaf-blind hypopigmentation syndrome
|
[NCBI]
|
0.000129868
|
|
|
fountain syndrome
|
[NCBI]
|
0.000129868
|
|
|
ichthyosis--cheek--eyebrow syndrome
|
[NCBI]
|
0.000129868
|
|
|
acrorenal syndrome, autosomal recessive
|
[NCBI]
|
0.000129868
|
|
|
fetal akinesia syndrome, x-linked
|
[NCBI]
|
0.000129868
|
|
|
JBTS5
|
[NCBI]
|
0.000129868
|
|
|
cardiogenital syndrome
|
[NCBI]
|
0.000129868
|
|
|
camera-marugo-cohen syndrome
|
[NCBI]
|
0.000129868
|
|
|
lowry-maclean syndrome
|
[NCBI]
|
0.000129868
|
|
|
multiple pterygium syndrome, aslan type
|
[NCBI]
|
0.000129868
|
|
|
al-gazali syndrome
|
[NCBI]
|
0.000129868
|
|
|
mental retardation, buenos aires type
|
[NCBI]
|
0.000129868
|
|
|
spondylometaphyseal dysplasia with dentinogenesis imperfecta
|
[NCBI]
|
0.000129868
|
|
|
fibrosis of extraocular muscles, congenital, with synergistic divergence
|
[NCBI]
|
0.000129868
|
|
|
peeling skin syndrome, acral type
|
[NCBI]
|
0.000129868
|
|
|
arthrogryposis and ectodermal dysplasia
|
[NCBI]
|
0.000129868
|
|
|
cree mental retardation syndrome
|
[NCBI]
|
0.000129868
|
|
|
TCC
|
[NCBI]
|
0.000129868
|
|
|
scalp defects and postaxial polydactyly
|
[NCBI]
|
0.000129868
|
|
|
chands
|
[NCBI]
|
0.000129868
|
|
|
hypotonia-cystinuria syndrome
|
[NCBI]
|
0.000129868
|
|
|
acrofrontofacionasal dysostosis, severe
|
[NCBI]
|
0.000129868
|
|
|
fitzsimmons-guilbert syndrome
|
[NCBI]
|
0.000129868
|
|
|
agonadism with multiple internal malformations
|
[NCBI]
|
0.000129868
|
|
|
lissencephaly type iii and bone dysplasia
|
[NCBI]
|
0.000129868
|
|
|
larsen-like syndrome, lethal type
|
[NCBI]
|
0.000129868
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
0.000128861
|
|
|
MCOPS3
|
[NCBI]
|
0.000127974
|
|
|
WHSC2
|
[NCBI]
|
0.000126395
|
|
|
RAB3GAP1
|
[NCBI]
|
0.000126395
|
|
|
LETM1
|
[NCBI]
|
0.000126395
|
|
|
MKS1
|
[NCBI]
|
0.000126395
|
|
|
RNASEH2A
|
[NCBI]
|
0.000126395
|
|
|
PREPL
|
[NCBI]
|
0.000126395
|
|
|
FOXP3
|
[NCBI]
|
0.000126276
|
|
|
ACCPN
|
[NCBI]
|
0.000122444
|
|
|
leber optic atrophy
|
[NCBI]
|
0.000121558
|
|
|
TH
|
[NCBI]
|
0.000121524
|
|
|
TBCE
|
[NCBI]
|
0.000121449
|
|
|
CRLF1
|
[NCBI]
|
0.000121449
|
|
|
SKI
|
[NCBI]
|
0.000121449
|
|
|
EIF2AK3
|
[NCBI]
|
0.000121449
|
|
|
CHRNA1
|
[NCBI]
|
0.000121276
|
|
|
COL11A2
|
[NCBI]
|
0.000121276
|
|
|
GLUD1
|
[NCBI]
|
0.000121276
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
0.00012091
|
|
|
serpentine fibula-polycystic kidney syndrome
|
[NCBI]
|
0.000120883
|
|
|
winchester syndrome
|
[NCBI]
|
0.000120883
|
|
|
ablepharon-macrostomia syndrome
|
[NCBI]
|
0.000120883
|
|
|
reifenstein syndrome
|
[NCBI]
|
0.000120883
|
|
|
AHDS
|
[NCBI]
|
0.000120852
|
|
|
septooptic dysplasia
|
[NCBI]
|
0.000120852
|
|
|
SOX10
|
[NCBI]
|
0.00011862
|
|
|
scleroderma, familial progressive
|
[NCBI]
|
0.00011837
|
|
|
short rib-polydactyly syndrome, type iv
|
[NCBI]
|
0.000117718
|
|
|
intestinal atresia, multiple
|
[NCBI]
|
0.000117718
|
|
|
NPY
|
[NCBI]
|
0.000117406
|
|
|
microcephaly with chorioretinopathy, autosomal recessive
|
[NCBI]
|
0.000116777
|
|
|
microtia-anotia
|
[NCBI]
|
0.000116777
|
|
|
CNC2
|
[NCBI]
|
0.000116777
|
|
|
WT1
|
[NCBI]
|
0.000114719
|
|
|
abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism
|
[NCBI]
|
0.000114304
|
|
|
myoclonic epilepsy, neonatal, with suppression-burst pattern
|
[NCBI]
|
0.000114069
|
|
|
AHI1
|
[NCBI]
|
0.000113991
|
|
|
stickler syndrome, type i, nonsyndromic ocular
|
[NCBI]
|
0.000113577
|
|
|
STL3
|
[NCBI]
|
0.000113577
|
|
|
weyers ulnar ray/oligodactyly syndrome
|
[NCBI]
|
0.000113577
|
|
|
ramon syndrome
|
[NCBI]
|
0.000113577
|
|
|
carney triad
|
[NCBI]
|
0.000113577
|
|
|
hypertension with brachydactyly
|
[NCBI]
|
0.000111892
|
|
|
spondyloepimetaphyseal dysplasia, sponastrime type
|
[NCBI]
|
0.000111892
|
|
|
SOX9
|
[NCBI]
|
0.000111386
|
|
|
sjogren syndrome
|
[NCBI]
|
0.000110318
|
|
|
por deficiency
|
[NCBI]
|
0.000109906
|
|
|
muenke syndrome
|
[NCBI]
|
0.000109906
|
|
|
hyperferritinemia-cataract syndrome
|
[NCBI]
|
0.000109906
|
|
|
BLM
|
[NCBI]
|
0.000108392
|
|
|
PLOSL
|
[NCBI]
|
0.000108254
|
|
|
EFNB1
|
[NCBI]
|
0.000107798
|
|
|
TGFBR1
|
[NCBI]
|
0.000107798
|
|
|
CHS
|
[NCBI]
|
0.000107579
|
|
|
MADA
|
[NCBI]
|
0.000107123
|
|
|
SJS1
|
[NCBI]
|
0.000106753
|
|
|
WGN1
|
[NCBI]
|
0.000106568
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
0.000105791
|
|
|
HMI
|
[NCBI]
|
0.000105601
|
|
|
MLPH
|
[NCBI]
|
0.00010418
|
|
|
TGM5
|
[NCBI]
|
0.00010418
|
|
|
TMEM67
|
[NCBI]
|
0.00010418
|
|
|
AMHR2
|
[NCBI]
|
0.00010418
|
|
|
pfeiffer syndrome
|
[NCBI]
|
0.000104094
|
|
|
AS
|
[NCBI]
|
0.000103693
|
|
|
BDNF
|
[NCBI]
|
0.000103429
|
|
|
OD
|
[NCBI]
|
0.000103122
|
|
|
GAMT
|
[NCBI]
|
0.000103073
|
|
|
OPMD
|
[NCBI]
|
0.000102534
|
|
|
MPI
|
[NCBI]
|
0.0001025
|
|
|
TREX1
|
[NCBI]
|
0.0001025
|
|
|
donohue syndrome
|
[NCBI]
|
0.000102458
|
|
|
MELAS
|
[NCBI]
|
0.000102458
|
|
|
ACHE
|
[NCBI]
|
0.000102092
|
|
|
PMD
|
[NCBI]
|
0.000101491
|
|
|
DKC1
|
[NCBI]
|
0.000101046
|
|
|
sea-blue histiocyte disease
|
[NCBI]
|
0.00010057
|
|
|
epstein syndrome
|
[NCBI]
|
0.00010057
|
|
|
shprintzen-goldberg craniosynostosis syndrome
|
[NCBI]
|
0.00010057
|
|
|
HHS
|
[NCBI]
|
0.00010057
|
|
|
TSD
|
[NCBI]
|
0.000100247
|
|
|
BOS1
|
[NCBI]
|
9.97893e-05
|
|
|
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
|
[NCBI]
|
9.91567e-05
|
|
|
CINCA
|
[NCBI]
|
9.91567e-05
|
|
|
carpenter syndrome
|
[NCBI]
|
9.91567e-05
|
|
|
palmoplantar hyperkeratosis with squamous cell carcinoma of skin and sex reversal
|
[NCBI]
|
9.91567e-05
|
|
|
cerebrofrontofacial syndrome
|
[NCBI]
|
9.91567e-05
|
|
|
TTDN1
|
[NCBI]
|
9.91567e-05
|
|
|
STL2
|
[NCBI]
|
9.91567e-05
|
|
|
SQT1
|
[NCBI]
|
9.91567e-05
|
|
|
HGPPS
|
[NCBI]
|
9.91567e-05
|
|
|
3-@methylglutaconic aciduria, type iii
|
[NCBI]
|
9.91567e-05
|
|
|
MVK
|
[NCBI]
|
9.84104e-05
|
|
|
CCK
|
[NCBI]
|
9.67859e-05
|
|
|
HFM
|
[NCBI]
|
9.62765e-05
|
|
|
ATR
|
[NCBI]
|
9.59228e-05
|
|
|
HPS
|
[NCBI]
|
9.57067e-05
|
|
|
robin sequence with cleft mandible and limb anomalies
|
[NCBI]
|
9.45672e-05
|
|
|
digitorenocerebral syndrome
|
[NCBI]
|
9.45672e-05
|
|
|
eem syndrome
|
[NCBI]
|
9.45672e-05
|
|
|
CHBL
|
[NCBI]
|
9.45672e-05
|
|
|
sarcoidosis, early-onset
|
[NCBI]
|
9.45672e-05
|
|
|
TS
|
[NCBI]
|
9.45672e-05
|
|
|
PTLS
|
[NCBI]
|
9.45672e-05
|
|
|
hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration
|
[NCBI]
|
9.45672e-05
|
|
|
lig4 syndrome
|
[NCBI]
|
9.45672e-05
|
|
|
stapes ankylosis with broad thumb and toes
|
[NCBI]
|
9.45672e-05
|
|
|
OODD
|
[NCBI]
|
9.45672e-05
|
|
|
lazy leukocyte syndrome
|
[NCBI]
|
9.45672e-05
|
|
|
charge-like syndrome, x-linked
|
[NCBI]
|
9.45672e-05
|
|
|
cardiomyopathy, congestive, with hypergonadotropic hypogonadism
|
[NCBI]
|
9.45672e-05
|
|
|
coloboma of macula with type b brachydactyly
|
[NCBI]
|
9.45672e-05
|
|
|
nevo syndrome
|
[NCBI]
|
9.45672e-05
|
|
|
mental retardation with epilepsy and characteristic facies
|
[NCBI]
|
9.45672e-05
|
|
|
roifman syndrome
|
[NCBI]
|
9.45672e-05
|
|
|
simpson-golabi-behmel syndrome, type 2
|
[NCBI]
|
9.45672e-05
|
|
|
majeed syndrome
|
[NCBI]
|
9.45672e-05
|
|
|
aminopterin syndrome sine aminopterin
|
[NCBI]
|
9.45672e-05
|
|
|
oculopalatoskeletal syndrome
|
[NCBI]
|
9.45672e-05
|
|
|
DMD
|
[NCBI]
|
9.39025e-05
|
|
|
AT
|
[NCBI]
|
9.38272e-05
|
|
|
HPS1
|
[NCBI]
|
9.37623e-05
|
|
|
NLRP3
|
[NCBI]
|
9.37623e-05
|
|
|
tight skin contracture syndrome, lethal
|
[NCBI]
|
9.36209e-05
|
|
|
PHF6
|
[NCBI]
|
9.3233e-05
|
|
|
PSTPIP1
|
[NCBI]
|
9.3233e-05
|
|
|
MED12
|
[NCBI]
|
9.3233e-05
|
|
|
MTTW
|
[NCBI]
|
9.3233e-05
|
|
|
ESCO2
|
[NCBI]
|
9.3233e-05
|
|
|
SLC25A15
|
[NCBI]
|
9.3233e-05
|
|
|
constricting bands, congenital
|
[NCBI]
|
9.23341e-05
|
|
|
OSCS
|
[NCBI]
|
9.1592e-05
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
9.1592e-05
|
|
|
krabbe disease
|
[NCBI]
|
9.1116e-05
|
|
|
cataract, congenital, with mental impairment and dentate gyrus atrophy
|
[NCBI]
|
9.03531e-05
|
|
|
DFNA41
|
[NCBI]
|
9.03531e-05
|
|
|
hypercalciuria, absorptive, 1
|
[NCBI]
|
9.03531e-05
|
|
|
convulsions, benign familial infantile, 2
|
[NCBI]
|
9.03531e-05
|
|
|
blepharophimosis with ptosis, syndactyly, and short stature
|
[NCBI]
|
9.03531e-05
|
|
|
osteodysplasia, familial, anderson type
|
[NCBI]
|
9.03531e-05
|
|
|
brachydactyly, combined b and e types
|
[NCBI]
|
9.03531e-05
|
|
|
synostosis, carpal, with dysplastic elbow joints and brachydactyly
|
[NCBI]
|
9.03531e-05
|
|
|
hydrocephalus, autosomal dominant
|
[NCBI]
|
9.03531e-05
|
|
|
lelis syndrome
|
[NCBI]
|
9.03531e-05
|
|
|
natural killer cell deficiency, familial isolated
|
[NCBI]
|
9.03531e-05
|
|
|
cleft palate-lateral synechia syndrome
|
[NCBI]
|
9.03531e-05
|
|
|
polymicrogyria, unilateral
|
[NCBI]
|
9.03531e-05
|
|
|
otodental dysplasia
|
[NCBI]
|
9.03531e-05
|
|
|
MGS
|
[NCBI]
|
9.03531e-05
|
|
|
hypomandibular faciocranial dysostosis
|
[NCBI]
|
9.03531e-05
|
|
|
histiocytosis with joint contractures and sensorineural deafness
|
[NCBI]
|
9.03531e-05
|
|
|
doughnut lesions of skull, familial
|
[NCBI]
|
9.03531e-05
|
|
|
CRSA
|
[NCBI]
|
9.03531e-05
|
|
|
anorectal anomalies
|
[NCBI]
|
9.03531e-05
|
|
|
cerebrohepatorenal syndrome, variant types
|
[NCBI]
|
9.03531e-05
|
|
|
MRSD
|
[NCBI]
|
9.03531e-05
|
|
|
pterygium, antecubital
|
[NCBI]
|
9.03531e-05
|
|
|
joint laxity, familial
|
[NCBI]
|
9.03531e-05
|
|
|
NYS4
|
[NCBI]
|
9.03531e-05
|
|
|
HHG
|
[NCBI]
|
9.03531e-05
|
|
|
mesomelia-synostoses syndrome
|
[NCBI]
|
9.03531e-05
|
|
|
oslam syndrome
|
[NCBI]
|
9.03531e-05
|
|
|
epilepsy, myoclonic, benign adult familial, type 2
|
[NCBI]
|
9.03531e-05
|
|
|
epilepsy, partial, with variable foci
|
[NCBI]
|
9.03531e-05
|
|
|
burn-mckeown syndrome
|
[NCBI]
|
9.03531e-05
|
|
|
ketoaciduria with mental deficiency and other features
|
[NCBI]
|
9.03531e-05
|
|
|
MRXS7
|
[NCBI]
|
9.03531e-05
|
|
|
parkinsonism, early-onset, with mental retardation
|
[NCBI]
|
9.03531e-05
|
|
|
oculootofacial dysplasia
|
[NCBI]
|
9.03531e-05
|
|
|
DNMT3B
|
[NCBI]
|
8.92089e-05
|
|
|
CMH
|
[NCBI]
|
8.85308e-05
|
|
|
DRRS
|
[NCBI]
|
8.79741e-05
|
|
|
FMD
|
[NCBI]
|
8.79741e-05
|
|
|
frontonasal dysplasia
|
[NCBI]
|
8.7921e-05
|
|
|
hyperpipecolatemia
|
[NCBI]
|
8.7921e-05
|
|
|
HMS
|
[NCBI]
|
8.7921e-05
|
|
|
GRTH
|
[NCBI]
|
8.7921e-05
|
|
|
intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked
|
[NCBI]
|
8.7921e-05
|
|
|
lujan-fryns syndrome
|
[NCBI]
|
8.7921e-05
|
|
|
CD40LG
|
[NCBI]
|
8.71833e-05
|
|
|
TGFBR2
|
[NCBI]
|
8.71833e-05
|
|
|
arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly
|
[NCBI]
|
8.6576e-05
|
|
|
AGS2
|
[NCBI]
|
8.6576e-05
|
|
|
ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia
|
[NCBI]
|
8.6576e-05
|
|
|
spastic paresis, glaucoma, and mental retardation
|
[NCBI]
|
8.6576e-05
|
|
|
trichodental dysplasia
|
[NCBI]
|
8.6576e-05
|
|
|
spondyloocular syndrome, autosomal recessive
|
[NCBI]
|
8.6576e-05
|
|
|
chromosome 9q subtelomeric deletion syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
opticoacoustic nerve atrophy with dementia
|
[NCBI]
|
8.6576e-05
|
|
|
ophthalmoplegic neuromuscular disorder with abnormal mitochondria
|
[NCBI]
|
8.6576e-05
|
|
|
MKS4
|
[NCBI]
|
8.6576e-05
|
|
|
pallister w syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
frontoocular syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
RDC
|
[NCBI]
|
8.6576e-05
|
|
|
JBTS4
|
[NCBI]
|
8.6576e-05
|
|
|
choroid plexus calcification and mental retardation
|
[NCBI]
|
8.6576e-05
|
|
|
cerebrofacioarticular syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
craniomicromelic syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
b-cell immunodeficiency, distal limb anomalies, and urogenital malformations
|
[NCBI]
|
8.6576e-05
|
|
|
tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities
|
[NCBI]
|
8.6576e-05
|
|
|
hydrocephalus, skeletal anomalies, and mental disturbance
|
[NCBI]
|
8.6576e-05
|
|
|
histiocytic dermatoarthritis
|
[NCBI]
|
8.6576e-05
|
|
|
deafness-oligodontia syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
S PEAK SYNDROME
|
[NCBI]
|
8.6576e-05
|
|
|
hirsutism--skeletal dysplasia--mental retardation syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
craniosynostosis-mental retardation syndrome of lin and gettig
|
[NCBI]
|
8.6576e-05
|
|
|
contractures, congenital, torticollis, and malignant hyperthermia
|
[NCBI]
|
8.6576e-05
|
|
|
LCCS2
|
[NCBI]
|
8.6576e-05
|
|
|
retinitis pigmentosa, deafness, mental retardation, and hypogonadism
|
[NCBI]
|
8.6576e-05
|
|
|
mcdonough syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
rombo syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
microcephaly and digital abnormalities with normal intelligence
|
[NCBI]
|
8.6576e-05
|
|
|
edinburgh malformation syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
ectrodactyly-cleft palate syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
eyebrows, duplication of, with stretchable skin and syndactyly
|
[NCBI]
|
8.6576e-05
|
|
|
epiphyseal dysplasia, multiple, with myopia and conductive deafness
|
[NCBI]
|
8.6576e-05
|
|
|
AOIII
|
[NCBI]
|
8.6576e-05
|
|
|
renal dysplasia-limb defects syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
carney complex variant
|
[NCBI]
|
8.6576e-05
|
|
|
AGS4
|
[NCBI]
|
8.6576e-05
|
|
|
bruck syndrome 2
|
[NCBI]
|
8.6576e-05
|
|
|
pterygium colli and mental retardation with facial and digital anomalies
|
[NCBI]
|
8.6576e-05
|
|
|
hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation
|
[NCBI]
|
8.6576e-05
|
|
|
blepharonasofacial malformation syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
cahmr syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
|
[NCBI]
|
8.6576e-05
|
|
|
subaortic stenosis--short stature syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
MRXS14
|
[NCBI]
|
8.6576e-05
|
|
|
arthrogryposis, distal, with mental retardation and characteristic facies
|
[NCBI]
|
8.6576e-05
|
|
|
tonoki syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
achalasia-microcephaly syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
thymic-renal-anal-lung dysplasia
|
[NCBI]
|
8.6576e-05
|
|
|
hyperostosis frontalis interna
|
[NCBI]
|
8.6576e-05
|
|
|
nasodigitoacoustic syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
|
[NCBI]
|
8.6576e-05
|
|
|
growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction
|
[NCBI]
|
8.6576e-05
|
|
|
teebi-shaltout syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
sebaceous nevus syndrome and hemimegalencephaly
|
[NCBI]
|
8.6576e-05
|
|
|
temtamy preaxial brachydactyly syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
megalencephaly, mega corpus callosum, and complete lack of motor development
|
[NCBI]
|
8.6576e-05
|
|
|
DHS
|
[NCBI]
|
8.6576e-05
|
|
|
pelviscapular dysplasia
|
[NCBI]
|
8.6576e-05
|
|
|
GS3
|
[NCBI]
|
8.6576e-05
|
|
|
microcephaly-cardiomyopathy
|
[NCBI]
|
8.6576e-05
|
|
|
aredyld
|
[NCBI]
|
8.6576e-05
|
|
|
revesz syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism
|
[NCBI]
|
8.6576e-05
|
|
|
JBTS7
|
[NCBI]
|
8.6576e-05
|
|
|
tn syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
lambert syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
situs inversus totalis with cystic dysplasia of kidneys and pancreas
|
[NCBI]
|
8.6576e-05
|
|
|
faciocardiorenal syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
holoprosencephaly with fetal akinesia/hypokinesia sequence
|
[NCBI]
|
8.6576e-05
|
|
|
external auditory canal, bilateral atresia of, with congenital vertical talus
|
[NCBI]
|
8.6576e-05
|
|
|
craniorhiny
|
[NCBI]
|
8.6576e-05
|
|
|
sener syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
MRXS10
|
[NCBI]
|
8.6576e-05
|
|
|
camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
|
[NCBI]
|
8.6576e-05
|
|
|
cleft palate, cardiac defect, genital anomalies, and ectrodactyly
|
[NCBI]
|
8.6576e-05
|
|
|
phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia
|
[NCBI]
|
8.6576e-05
|
|
|
NSX
|
[NCBI]
|
8.6576e-05
|
|
|
karak syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
summitt syndrome
|
[NCBI]
|
8.6576e-05
|
|
|
dextrocardia with unusual facies and microphthalmia
|
[NCBI]
|
8.6576e-05
|
|
|
CSA
|
[NCBI]
|
8.6305e-05
|
|
|
NSDHL
|
[NCBI]
|
8.54862e-05
|
|
|
NPHP4
|
[NCBI]
|
8.54862e-05
|
|
|
TMAU
|
[NCBI]
|
8.53467e-05
|
|
|
LDS
|
[NCBI]
|
8.53467e-05
|
|
|
deafness, congenital, with keratopachydermia and constrictions of fingers and toes
|
[NCBI]
|
8.53467e-05
|
|
|
ERCC2
|
[NCBI]
|
8.52487e-05
|
|
|
RNASEH2C
|
[NCBI]
|
8.42588e-05
|
|
|
KPNA2
|
[NCBI]
|
8.42588e-05
|
|
|
TBX4
|
[NCBI]
|
8.42588e-05
|
|
|
PPM1B
|
[NCBI]
|
8.42588e-05
|
|
|
antigen defined by monoclonal antibody f10.44.2
|
[NCBI]
|
8.42588e-05
|
|
|
EHMT1
|
[NCBI]
|
8.42588e-05
|
|
|
UPF3B
|
[NCBI]
|
8.42588e-05
|
|
|
RNASEH2B
|
[NCBI]
|
8.42588e-05
|
|
|
ZFP37
|
[NCBI]
|
8.42588e-05
|
|
|
RPGRIP1L
|
[NCBI]
|
8.42588e-05
|
|
|
FGFR3
|
[NCBI]
|
8.28658e-05
|
|
|
KFSD
|
[NCBI]
|
8.27787e-05
|
|
|
AHC
|
[NCBI]
|
8.2542e-05
|
|
|
LWD
|
[NCBI]
|
8.1599e-05
|
|
|
THAS
|
[NCBI]
|
8.13091e-05
|
|
|
LCAT
|
[NCBI]
|
8.11383e-05
|
|
|
FMO3
|
[NCBI]
|
8.08284e-05
|
|
|
SALL4
|
[NCBI]
|
8.08284e-05
|
|
|
CHH
|
[NCBI]
|
8.02535e-05
|
|
|
PCD
|
[NCBI]
|
8.00772e-05
|
|
|
PJS
|
[NCBI]
|
7.9807e-05
|
|
|
SLS
|
[NCBI]
|
7.95483e-05
|
|
|
SHANK3
|
[NCBI]
|
7.94528e-05
|
|
|
TREM2
|
[NCBI]
|
7.94528e-05
|
|
|
FANCB
|
[NCBI]
|
7.94528e-05
|
|
|
VLDLRCH
|
[NCBI]
|
7.87496e-05
|
|
|
corpus callosum, agenesis of
|
[NCBI]
|
7.87496e-05
|
|
|
MSX1
|
[NCBI]
|
7.82117e-05
|
|
|
SLC2A1
|
[NCBI]
|
7.82117e-05
|
|
|
AIED
|
[NCBI]
|
7.7978e-05
|
|
|
subglottic bar
|
[NCBI]
|
7.76433e-05
|
|
|
MLASA
|
[NCBI]
|
7.76433e-05
|
|
|
iris coloboma with ptosis, hypertelorism, and mental retardation
|
[NCBI]
|
7.76433e-05
|
|
|
corneal dystrophy and perceptive deafness
|
[NCBI]
|
7.76433e-05
|
|
|
TCPT
|
[NCBI]
|
7.76433e-05
|
|
|
holzgreve syndrome
|
[NCBI]
|
7.76433e-05
|
|
|
myelocerebellar disorder
|
[NCBI]
|
7.76433e-05
|
|
|
knuckle pads, leukonychia, and sensorineural deafness
|
[NCBI]
|
7.76433e-05
|
|
|
BWS
|
[NCBI]
|
7.75994e-05
|
|
|
FFI
|
[NCBI]
|
7.678e-05
|
|
|
spondyloenchondrodysplasia
|
[NCBI]
|
7.52196e-05
|
|
|
epilepsy, myoclonic, benign adult familial, type 1
|
[NCBI]
|
7.52196e-05
|
|
|
FEB1
|
[NCBI]
|
7.52196e-05
|
|
|
MTTK
|
[NCBI]
|
7.5196e-05
|
|
|
MUC1
|
[NCBI]
|
7.46668e-05
|
|
|
pierre robin sequence with pectus excavatum and rib and scapular anomalies
|
[NCBI]
|
7.45649e-05
|
|
|
OFD9
|
[NCBI]
|
7.45649e-05
|
|
|
trichorrhexis nodosa syndrome
|
[NCBI]
|
7.45649e-05
|
|
|
OSCS
|
[NCBI]
|
7.45649e-05
|
|
|
acanthosis nigricans
|
[NCBI]
|
7.45649e-05
|
|
|
malignant atrophic papulosis
|
[NCBI]
|
7.45649e-05
|
|
|
parkinsonism with alveolar hypoventilation and mental depression
|
[NCBI]
|
7.45649e-05
|
|
|
MEST
|
[NCBI]
|
7.4506e-05
|
|
|
LPIN2
|
[NCBI]
|
7.4506e-05
|
|
|
BCS1L
|
[NCBI]
|
7.4506e-05
|
|
|
TNFSF6
|
[NCBI]
|
7.43182e-05
|
|
|
PHOX2B
|
[NCBI]
|
7.34972e-05
|
|
|
TG
|
[NCBI]
|
7.33153e-05
|
|
|
diabetes mellitus, insulin-resistant, with acanthosis nigricans
|
[NCBI]
|
7.33073e-05
|
|
|
GRTH
|
[NCBI]
|
7.33073e-05
|
|
|
danubian endemic familial nephropathy
|
[NCBI]
|
7.27314e-05
|
|
|
TNFRSF6
|
[NCBI]
|
7.23211e-05
|
|
|
SGCE
|
[NCBI]
|
7.13588e-05
|
|
|
CDG1B
|
[NCBI]
|
7.10374e-05
|
|
|
BDB1
|
[NCBI]
|
7.10374e-05
|
|
|
BPP
|
[NCBI]
|
7.10374e-05
|
|
|
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
[NCBI]
|
7.10374e-05
|
|
|
ND
|
[NCBI]
|
7.09573e-05
|
|
|
MKKS
|
[NCBI]
|
7.03151e-05
|
|
|
TRPS1
|
[NCBI]
|
7.03151e-05
|
|
|
WHSC1
|
[NCBI]
|
7.03151e-05
|
|
|
DGUOK
|
[NCBI]
|
7.03151e-05
|
|
|
TAF1
|
[NCBI]
|
7.03151e-05
|
|
|
CACNA1C
|
[NCBI]
|
7.03151e-05
|
|
|
hypercholesterolemia, autosomal dominant
|
[NCBI]
|
6.97105e-05
|
|
|
CAT
|
[NCBI]
|
6.96992e-05
|
|
|
MFS
|
[NCBI]
|
6.96032e-05
|
|
|
MNGIE
|
[NCBI]
|
6.93819e-05
|
|
|
MTTL1
|
[NCBI]
|
6.87873e-05
|
|
|
EA1
|
[NCBI]
|
6.81529e-05
|
|
|
bartter syndrome, antenatal, type 2
|
[NCBI]
|
6.81529e-05
|
|
|
SCA1
|
[NCBI]
|
6.77045e-05
|
|
|
TCOF1
|
[NCBI]
|
6.74425e-05
|
|
|
PRG4
|
[NCBI]
|
6.66819e-05
|
|
|
NS1
|
[NCBI]
|
6.60102e-05
|
|
|
witkop syndrome
|
[NCBI]
|
6.59376e-05
|
|
|
bowing of legs, anterior, with dwarfism
|
[NCBI]
|
6.59376e-05
|
|
|
pyogenic sterile arthritis, pyoderma gangrenosum, and acne
|
[NCBI]
|
6.59376e-05
|
|
|
clark-baraitser syndrome
|
[NCBI]
|
6.59376e-05
|
|
|
JPHT
|
[NCBI]
|
6.59376e-05
|
|
|
BJS
|
[NCBI]
|
6.59376e-05
|
|
|
chorioretinal dysplasia-microcephaly-mental retardation syndrome
|
[NCBI]
|
6.59376e-05
|
|
|
DFNB18
|
[NCBI]
|
6.59376e-05
|
|
|
desmosterolosis
|
[NCBI]
|
6.59376e-05
|
|
|
cleft larynx, posterior
|
[NCBI]
|
6.59376e-05
|
|
|
native american myopathy
|
[NCBI]
|
6.59376e-05
|
|
|
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
[NCBI]
|
6.59376e-05
|
|
|
weyers acrofacial dysostosis
|
[NCBI]
|
6.59376e-05
|
|
|
SMC
|
[NCBI]
|
6.59376e-05
|
|
|
MTATP6
|
[NCBI]
|
6.59177e-05
|
|
|
PANK2
|
[NCBI]
|
6.56406e-05
|
|
|
AIS
|
[NCBI]
|
6.54249e-05
|
|
|
MTTV
|
[NCBI]
|
6.54211e-05
|
|
|
CHRNB1
|
[NCBI]
|
6.54211e-05
|
|
|
DLX3
|
[NCBI]
|
6.54211e-05
|
|
|
SLC25A1
|
[NCBI]
|
6.54211e-05
|
|
|
ANTXR2
|
[NCBI]
|
6.54211e-05
|
|
|
CNTN4
|
[NCBI]
|
6.54211e-05
|
|
|
CUL7
|
[NCBI]
|
6.54211e-05
|
|
|
FGFR1
|
[NCBI]
|
6.51551e-05
|
|
|
JPS
|
[NCBI]
|
6.4641e-05
|
|
|
vater association
|
[NCBI]
|
6.44158e-05
|
|
|
MCOPS9
|
[NCBI]
|
6.44158e-05
|
|
|
noonan-like/multiple giant cell lesion syndrome
|
[NCBI]
|
6.44158e-05
|
|
|
gracile syndrome
|
[NCBI]
|
6.44158e-05
|
|
|
OSMED
|
[NCBI]
|
6.44158e-05
|
|
|
HIGM1
|
[NCBI]
|
6.41918e-05
|
|
|
WFS1
|
[NCBI]
|
6.40491e-05
|
|
|
LCA1
|
[NCBI]
|
6.25173e-05
|
|
|
TWIST1
|
[NCBI]
|
6.07499e-05
|
|
|
GATA3
|
[NCBI]
|
6.06148e-05
|
|
|
BCNS
|
[NCBI]
|
5.98889e-05
|
|
|
ACH
|
[NCBI]
|
5.98783e-05
|
|
|
CHAT
|
[NCBI]
|
5.94954e-05
|
|
|
VDR
|
[NCBI]
|
5.93332e-05
|
|
|
MVA
|
[NCBI]
|
5.91663e-05
|
|
|
IH
|
[NCBI]
|
5.91196e-05
|
|
|
microcephaly, autosomal dominant
|
[NCBI]
|
5.91196e-05
|
|
|
ETL2
|
[NCBI]
|
5.91196e-05
|
|
|
wildervanck syndrome
|
[NCBI]
|
5.86423e-05
|
|
|
DLL3
|
[NCBI]
|
5.80292e-05
|
|
|
MC2R
|
[NCBI]
|
5.80292e-05
|
|
|
TNFRSF11B
|
[NCBI]
|
5.75568e-05
|
|
|
short rib-polydactyly syndrome, type iii
|
[NCBI]
|
5.7519e-05
|
|
|
ehlers-danlos syndrome, type vib
|
[NCBI]
|
5.7519e-05
|
|
|
ADFN
|
[NCBI]
|
5.7519e-05
|
|
|
CARASIL
|
[NCBI]
|
5.7519e-05
|
|
|
optic atrophy 1 and deafness
|
[NCBI]
|
5.70258e-05
|
|
|
vasculopathy, retinal, with cerebral leukodystrophy
|
[NCBI]
|
5.70258e-05
|
|
|
naegeli syndrome
|
[NCBI]
|
5.70258e-05
|
|
|
valproate embryopathy, susceptibility to
|
[NCBI]
|
5.70258e-05
|
|
|
HCCS
|
[NCBI]
|
5.69863e-05
|
|
|
USH1G
|
[NCBI]
|
5.69863e-05
|
|
|
SMOH
|
[NCBI]
|
5.69863e-05
|
|
|
PUS1
|
[NCBI]
|
5.69863e-05
|
|
|
CHML
|
[NCBI]
|
5.69863e-05
|
|
|
FRAS1
|
[NCBI]
|
5.69863e-05
|
|
|
kindlin 1
|
[NCBI]
|
5.69863e-05
|
|
|
CUL4B
|
[NCBI]
|
5.69863e-05
|
|
|
ARL6
|
[NCBI]
|
5.69863e-05
|
|
|
SHOX2
|
[NCBI]
|
5.69863e-05
|
|
|
megaloblastic anemia 1
|
[NCBI]
|
5.68349e-05
|
|
|
ALPS2A
|
[NCBI]
|
5.6784e-05
|
|
|
nicolaides-baraitser syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
hypomagnesemia, renal, with ocular involvement
|
[NCBI]
|
5.6784e-05
|
|
|
ossified ear cartilages with mental deficiency, muscle wasting, and bony changes
|
[NCBI]
|
5.6784e-05
|
|
|
steatocystoma multiplex with natal teeth
|
[NCBI]
|
5.6784e-05
|
|
|
parathyroid carcinoma
|
[NCBI]
|
5.6784e-05
|
|
|
myotubular myopathy with abnormal genital development
|
[NCBI]
|
5.6784e-05
|
|
|
GUD
|
[NCBI]
|
5.6784e-05
|
|
|
limb defects, distal transverse, with mental retardation and spasticity
|
[NCBI]
|
5.6784e-05
|
|
|
coloboma, uveal, with cleft lip and palate and mental retardation
|
[NCBI]
|
5.6784e-05
|
|
|
abcd syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
gorlin-chaudhry-moss syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
hutterite cerebroosteonephrodysplasia syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
genitopalatocardiac syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
rapadilino syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
BDA6
|
[NCBI]
|
5.6784e-05
|
|
|
split-hand with congenital nystagmus, fundal changes, and cataracts
|
[NCBI]
|
5.6784e-05
|
|
|
gynecomastia, familial
|
[NCBI]
|
5.6784e-05
|
|
|
craniofacial dysostosis with diaphyseal hyperplasia
|
[NCBI]
|
5.6784e-05
|
|
|
split-foot deformity with mandibulofacial dysostosis
|
[NCBI]
|
5.6784e-05
|
|
|
radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
|
[NCBI]
|
5.6784e-05
|
|
|
retinohepatoendocrinologic syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
pterygium syndrome, multiple, x-linked
|
[NCBI]
|
5.6784e-05
|
|
|
sakoda complex
|
[NCBI]
|
5.6784e-05
|
|
|
GEMSS
|
[NCBI]
|
5.6784e-05
|
|
|
codas syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
oculocerebral hypopigmentation syndrome of preus
|
[NCBI]
|
5.6784e-05
|
|
|
ataxia-deafness-retardation syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
microcephaly, corpus callosum dysgenesis, and cleft lip/palate
|
[NCBI]
|
5.6784e-05
|
|
|
brachymorphism-onychodysplasia-dysphalangism syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
neurofaciodigitorenal syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
ARTS
|
[NCBI]
|
5.6784e-05
|
|
|
acrocephalopolydactylous dysplasia
|
[NCBI]
|
5.6784e-05
|
|
|
cochleosaccular degeneration of the inner ear with progressive cataracts
|
[NCBI]
|
5.6784e-05
|
|
|
carnevale syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
microduplication 22q11.2
|
[NCBI]
|
5.6784e-05
|
|
|
bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
|
[NCBI]
|
5.6784e-05
|
|
|
otofaciocervical syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
hydrocephalus with cerebellar agenesis
|
[NCBI]
|
5.6784e-05
|
|
|
preaxial deficiency, postaxial polydactyly, and hypospadias
|
[NCBI]
|
5.6784e-05
|
|
|
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
|
[NCBI]
|
5.6784e-05
|
|
|
CMD3A
|
[NCBI]
|
5.6784e-05
|
|
|
thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
|
[NCBI]
|
5.6784e-05
|
|
|
tetra-amelia, x-linked
|
[NCBI]
|
5.6784e-05
|
|
|
omphalocele, diaphragmatic hernia, and radial ray defects
|
[NCBI]
|
5.6784e-05
|
|
|
fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
|
[NCBI]
|
5.6784e-05
|
|
|
HBB
|
[NCBI]
|
5.66542e-05
|
|
|
KCNJ2
|
[NCBI]
|
5.56739e-05
|
|
|
SMMCI
|
[NCBI]
|
5.52193e-05
|
|
|
ATS
|
[NCBI]
|
5.3548e-05
|
|
|
renal tubular acidosis, distal, with progressive nerve deafness
|
[NCBI]
|
5.3548e-05
|
|
|
EBS-MP
|
[NCBI]
|
5.3548e-05
|
|
|
renal cysts and diabetes syndrome
|
[NCBI]
|
5.3548e-05
|
|
|
NKX2-1
|
[NCBI]
|
5.35129e-05
|
|
|
SLC6A8
|
[NCBI]
|
5.35129e-05
|
|
|
CCD
|
[NCBI]
|
5.28904e-05
|
|
|
CFTR
|
[NCBI]
|
5.20896e-05
|
|
|
PRL
|
[NCBI]
|
5.16199e-05
|
|
|
PHA2
|
[NCBI]
|
5.15776e-05
|
|
|
FBS
|
[NCBI]
|
5.15776e-05
|
|
|
asplenia with cardiovascular anomalies
|
[NCBI]
|
5.15776e-05
|
|
|
LRP2
|
[NCBI]
|
5.1518e-05
|
|
|
OTOF
|
[NCBI]
|
5.1518e-05
|
|
|
GK
|
[NCBI]
|
5.1518e-05
|
|
|
LQT1
|
[NCBI]
|
5.13191e-05
|
|
|
WNT4
|
[NCBI]
|
5.12412e-05
|
|
|
EVC
|
[NCBI]
|
5.12412e-05
|
|
|
GSCL
|
[NCBI]
|
5.12412e-05
|
|
|
wilson disease
|
[NCBI]
|
5.10561e-05
|
|
|
APOB
|
[NCBI]
|
5.08856e-05
|
|
|
ALS1
|
[NCBI]
|
4.99842e-05
|
|
|
ALSG
|
[NCBI]
|
4.98862e-05
|
|
|
cardiac conduction defect
|
[NCBI]
|
4.98862e-05
|
|
|
myasthenic syndrome, congenital, fast-channel
|
[NCBI]
|
4.98862e-05
|
|
|
keratoderma, palmoplantar, with deafness
|
[NCBI]
|
4.98862e-05
|
|
|
GDD
|
[NCBI]
|
4.98862e-05
|
|
|
creatine deficiency syndrome, x-linked
|
[NCBI]
|
4.98862e-05
|
|
|
SYM1
|
[NCBI]
|
4.90104e-05
|
|
|
HPE2
|
[NCBI]
|
4.90104e-05
|
|
|
chromosome 5q deletion syndrome
|
[NCBI]
|
4.90104e-05
|
|
|
PC1
|
[NCBI]
|
4.90104e-05
|
|
|
DA2B
|
[NCBI]
|
4.90104e-05
|
|
|
NDP
|
[NCBI]
|
4.83207e-05
|
|
|
PAX6
|
[NCBI]
|
4.82656e-05
|
|
|
RTD
|
[NCBI]
|
4.82066e-05
|
|
|
FOXC1
|
[NCBI]
|
4.79413e-05
|
|
|
ELN
|
[NCBI]
|
4.75374e-05
|
|
|
SHOX
|
[NCBI]
|
4.73112e-05
|
|
|
WRN
|
[NCBI]
|
4.71e-05
|
|
|
SCA2
|
[NCBI]
|
4.71e-05
|
|
|
DRPLA
|
[NCBI]
|
4.69662e-05
|
|
|
flaujeac factor deficiency
|
[NCBI]
|
4.68723e-05
|
|
|
ATP1A3
|
[NCBI]
|
4.68723e-05
|
|
|
TCF4
|
[NCBI]
|
4.68723e-05
|
|
|
F7R
|
[NCBI]
|
4.68723e-05
|
|
|
andersen cardiodysrhythmic periodic paralysis
|
[NCBI]
|
4.68201e-05
|
|
|
ADA
|
[NCBI]
|
4.67526e-05
|
|
|
CYP19A1
|
[NCBI]
|
4.63342e-05
|
|
|
ATP7A
|
[NCBI]
|
4.63342e-05
|
|
|
FOXC2
|
[NCBI]
|
4.63264e-05
|
|
|
CMTC
|
[NCBI]
|
4.59815e-05
|
|
|
MCOPS6
|
[NCBI]
|
4.57556e-05
|
|
|
hypoadrenocorticism, familial
|
[NCBI]
|
4.57556e-05
|
|
|
HMN1
|
[NCBI]
|
4.57556e-05
|
|
|
cerebellar ataxia and hypogonadotropic hypogonadism
|
[NCBI]
|
4.57556e-05
|
|
|
ornithine aminotransferase deficiency
|
[NCBI]
|
4.5388e-05
|
|
|
PFM
|
[NCBI]
|
4.49376e-05
|
|
|
CTHM
|
[NCBI]
|
4.49376e-05
|
|
|
kniest dysplasia
|
[NCBI]
|
4.49376e-05
|
|
|
NKX2E
|
[NCBI]
|
4.48098e-05
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
4.48075e-05
|
|
|
CADASIL
|
[NCBI]
|
4.48075e-05
|
|
|
GDNF
|
[NCBI]
|
4.48047e-05
|
|
|
NOD2
|
[NCBI]
|
4.4471e-05
|
|
|
porphyria variegata
|
[NCBI]
|
4.42397e-05
|
|
|
jejunal atresia
|
[NCBI]
|
4.42189e-05
|
|
|
storage pool platelet disease
|
[NCBI]
|
4.42189e-05
|
|
|
OTSC1
|
[NCBI]
|
4.42189e-05
|
|
|
RTS
|
[NCBI]
|
4.40719e-05
|
|
|
NPHP2
|
[NCBI]
|
4.39791e-05
|
|
|
HPS2
|
[NCBI]
|
4.39791e-05
|
|
|
CDG2A
|
[NCBI]
|
4.39791e-05
|
|
|
TRS
|
[NCBI]
|
4.39791e-05
|
|
|
LIS1
|
[NCBI]
|
4.39791e-05
|
|
|
spastic ataxia
|
[NCBI]
|
4.39563e-05
|
|
|
PRTS
|
[NCBI]
|
4.39563e-05
|
|
|
tetra-amelia, autosomal recessive
|
[NCBI]
|
4.39563e-05
|
|
|
PFM2
|
[NCBI]
|
4.39563e-05
|
|
|
USH1G
|
[NCBI]
|
4.39563e-05
|
|
|
axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
|
[NCBI]
|
4.39563e-05
|
|
|
glutamate monosodium sensitivity
|
[NCBI]
|
4.39563e-05
|
|
|
satoyoshi syndrome
|
[NCBI]
|
4.39563e-05
|
|
|
microcephaly with chemotactic defect and transient hypogammaglobulinemia
|
[NCBI]
|
4.39563e-05
|
|
|
dehydrated hereditary stomatocytosis, pseudohyperkalemia, and perinatal edema
|
[NCBI]
|
4.39563e-05
|
|
|
epidermolysis bullosa, late-onset localized junctional, with mental retardation
|
[NCBI]
|
4.39563e-05
|
|
|
lathosterolosis
|
[NCBI]
|
4.39563e-05
|
|
|
MCOPS8
|
[NCBI]
|
4.39563e-05
|
|
|
alopecia-epilepsy-oligophrenia syndrome of moynahan
|
[NCBI]
|
4.39563e-05
|
|
|
branchial arch syndrome, x-linked
|
[NCBI]
|
4.39563e-05
|
|
|
pachygyria with mental retardation and seizures
|
[NCBI]
|
4.39563e-05
|
|
|
craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
|
[NCBI]
|
4.39563e-05
|
|
|
anal atresia, hypospadias, and penoscrotal inversion
|
[NCBI]
|
4.39563e-05
|
|
|
coach syndrome
|
[NCBI]
|
4.39563e-05
|
|
|
CMTX5
|
[NCBI]
|
4.39563e-05
|
|
|
HANAC
|
[NCBI]
|
4.39563e-05
|
|
|
LGMD2K
|
[NCBI]
|
4.39563e-05
|
|
|
hearing loss, sensorineural, with enamel hypoplasia and nail defects
|
[NCBI]
|
4.39563e-05
|
|
|
CDHS
|
[NCBI]
|
4.39563e-05
|
|
|
LRP5
|
[NCBI]
|
4.3381e-05
|
|
|
EYA1
|
[NCBI]
|
4.3381e-05
|
|
|
MTTF
|
[NCBI]
|
4.33507e-05
|
|
|
SCNN1G
|
[NCBI]
|
4.33507e-05
|
|
|
CNTFR
|
[NCBI]
|
4.33507e-05
|
|
|
ZFPM2
|
[NCBI]
|
4.33507e-05
|
|
|
ALX4
|
[NCBI]
|
4.33507e-05
|
|
|
NPC1
|
[NCBI]
|
4.32919e-05
|
|
|
microcephaly-deafness syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
anonychia, total, with microcephaly
|
[NCBI]
|
4.32868e-05
|
|
|
brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia
|
[NCBI]
|
4.32868e-05
|
|
|
distichiasis with congenital anomalies of the heart and peripheral vasculature
|
[NCBI]
|
4.32868e-05
|
|
|
diabetes mellitus, neonatal, with congenital hypothyroidism
|
[NCBI]
|
4.32868e-05
|
|
|
mental retardation with spastic paraplegia and palmoplantar hyperkeratosis
|
[NCBI]
|
4.32868e-05
|
|
|
spondyloepimetaphyseal dysplasia with abnormal dentition
|
[NCBI]
|
4.32868e-05
|
|
|
omphalocele-cleft palate syndrome, lethal
|
[NCBI]
|
4.32868e-05
|
|
|
cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and subnormal mentality
|
[NCBI]
|
4.32868e-05
|
|
|
contiguous abcd1/dxs1375e deletion syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
hypertelorism and tetralogy of fallot
|
[NCBI]
|
4.32868e-05
|
|
|
cortical blindness, retardation, and postaxial polydactyly
|
[NCBI]
|
4.32868e-05
|
|
|
premature aging syndrome, penttinen type
|
[NCBI]
|
4.32868e-05
|
|
|
aurocephalosyndactyly
|
[NCBI]
|
4.32868e-05
|
|
|
FMO2
|
[NCBI]
|
4.32868e-05
|
|
|
hirschsprung disease with heart defects, laryngeal anomalies, and preaxial polydactyly
|
[NCBI]
|
4.32868e-05
|
|
|
nakajo syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
sinus node disease and myopia
|
[NCBI]
|
4.32868e-05
|
|
|
otofacioosseous-gonadal syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
hypomelia with mullerian duct anomalies
|
[NCBI]
|
4.32868e-05
|
|
|
dental noneruption
|
[NCBI]
|
4.32868e-05
|
|
|
woolly hair, autosomal recessive
|
[NCBI]
|
4.32868e-05
|
|
|
adrenal hypoplasia, congenital, with absent pituitary luteinizing hormone
|
[NCBI]
|
4.32868e-05
|
|
|
marfanoid mental retardation syndrome, autosomal
|
[NCBI]
|
4.32868e-05
|
|
|
corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation
|
[NCBI]
|
4.32868e-05
|
|
|
brachytelephalangy with characteristic facies and kallmann syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
ichthyosis, hepatosplenomegaly, and cerebellar degeneration
|
[NCBI]
|
4.32868e-05
|
|
|
CISS1
|
[NCBI]
|
4.32868e-05
|
|
|
pilodental dysplasia with refractive errors
|
[NCBI]
|
4.32868e-05
|
|
|
light fixation seizure syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
mental retardation associated with psoriasis
|
[NCBI]
|
4.32868e-05
|
|
|
prolactin deficiency with obesity and enlarged testes
|
[NCBI]
|
4.32868e-05
|
|
|
congenital heart defects, hamartomas of tongue, and polysyndactyly
|
[NCBI]
|
4.32868e-05
|
|
|
kapur-toriello syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
crumpled helices and small mouth
|
[NCBI]
|
4.32868e-05
|
|
|
nephropathy, deafness, and hyperparathyroidism
|
[NCBI]
|
4.32868e-05
|
|
|
symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
|
[NCBI]
|
4.32868e-05
|
|
|
ichthyosis with alopecia, eclabion, ectropion, and mental retardation
|
[NCBI]
|
4.32868e-05
|
|
|
kyrle disease
|
[NCBI]
|
4.32868e-05
|
|
|
nathalie syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
prune belly syndrome with pulmonic stenosis, mental retardation, and deafness
|
[NCBI]
|
4.32868e-05
|
|
|
faciothoracogenital syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
meralgia paraesthetica, familial
|
[NCBI]
|
4.32868e-05
|
|
|
polyps, multiple and recurrent inflammatory fibroid, gastrointestinal
|
[NCBI]
|
4.32868e-05
|
|
|
aortic aneurysm, familial thoracic 5
|
[NCBI]
|
4.32868e-05
|
|
|
heart-hand syndrome, spanish type
|
[NCBI]
|
4.32868e-05
|
|
|
edema, familial idiopathic, prepubertal
|
[NCBI]
|
4.32868e-05
|
|
|
cranioacrofacial syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
|
[NCBI]
|
4.32868e-05
|
|
|
craniosynostosis, philadelphia type
|
[NCBI]
|
4.32868e-05
|
|
|
teeth, noneruption of, with maxillary hypoplasia and genu valgum
|
[NCBI]
|
4.32868e-05
|
|
|
radiation sensitivity/chromosome instability syndrome, autosomal dominant
|
[NCBI]
|
4.32868e-05
|
|
|
SDSEM
|
[NCBI]
|
4.32868e-05
|
|
|
sonoda syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation
|
[NCBI]
|
4.32868e-05
|
|
|
cerebrorenodigital syndrome with limb malformations and triradiate acetabula
|
[NCBI]
|
4.32868e-05
|
|
|
adrenomyodystrophy
|
[NCBI]
|
4.32868e-05
|
|
|
beemer lethal malformation syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
cataract, membranous
|
[NCBI]
|
4.32868e-05
|
|
|
partington-anderson syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
steinfeld syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
hydrocephalus with associated malformations
|
[NCBI]
|
4.32868e-05
|
|
|
myelolymphatic insufficiency
|
[NCBI]
|
4.32868e-05
|
|
|
macrosomia with microphthalmia, lethal
|
[NCBI]
|
4.32868e-05
|
|
|
dermal ridges, nelson syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
mesomelic limb shortening and bowing
|
[NCBI]
|
4.32868e-05
|
|
|
brachydactyly, long-thumb type
|
[NCBI]
|
4.32868e-05
|
|
|
SYNS2
|
[NCBI]
|
4.32868e-05
|
|
|
arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
|
[NCBI]
|
4.32868e-05
|
|
|
LCCS3
|
[NCBI]
|
4.32868e-05
|
|
|
gms syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
rhyns syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
neurologic disease, infantile multisystem, with osseous fragility
|
[NCBI]
|
4.32868e-05
|
|
|
cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
|
[NCBI]
|
4.32868e-05
|
|
|
cantu syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
genu valgum, st. helena familial
|
[NCBI]
|
4.32868e-05
|
|
|
hair whorl
|
[NCBI]
|
4.32868e-05
|
|
|
disproportionate short stature with ptosis and valvular heart lesions
|
[NCBI]
|
4.32868e-05
|
|
|
parc syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
OOCH
|
[NCBI]
|
4.32868e-05
|
|
|
iridogoniodysgenesis and skeletal anomalies
|
[NCBI]
|
4.32868e-05
|
|
|
PMSE
|
[NCBI]
|
4.32868e-05
|
|
|
symphalangism with multiple anomalies of hands and feet
|
[NCBI]
|
4.32868e-05
|
|
|
cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness
|
[NCBI]
|
4.32868e-05
|
|
|
mental retardation syndrome, belgian type
|
[NCBI]
|
4.32868e-05
|
|
|
cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction
|
[NCBI]
|
4.32868e-05
|
|
|
lymphedema-hypoparathyroidism syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
spinocerebellar ataxia with dysmorphism
|
[NCBI]
|
4.32868e-05
|
|
|
hypophosphatemia, renal, with intracerebral calcifications
|
[NCBI]
|
4.32868e-05
|
|
|
osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures
|
[NCBI]
|
4.32868e-05
|
|
|
anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
|
[NCBI]
|
4.32868e-05
|
|
|
craniosynostosis-mental retardation-clefting syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
schimke x-linked mental retardation syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
arthropathy, erosive
|
[NCBI]
|
4.32868e-05
|
|
|
lambotte syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
thoracic dysostosis, isolated
|
[NCBI]
|
4.32868e-05
|
|
|
OLEDAID
|
[NCBI]
|
4.32868e-05
|
|
|
megarbane syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
robin sequence with distinctive facial appearance and brachydactyly
|
[NCBI]
|
4.32868e-05
|
|
|
ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
|
[NCBI]
|
4.32868e-05
|
|
|
kniest-like dysplasia, lethal
|
[NCBI]
|
4.32868e-05
|
|
|
deafness-craniofacial syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
hydrocephalus, endocardial fibroelastosis, and cataracts
|
[NCBI]
|
4.32868e-05
|
|
|
encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts
|
[NCBI]
|
4.32868e-05
|
|
|
microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs
|
[NCBI]
|
4.32868e-05
|
|
|
SERKAL
|
[NCBI]
|
4.32868e-05
|
|
|
ichthyosis, mental retardation, dwarfism, and renal impairment
|
[NCBI]
|
4.32868e-05
|
|
|
dyssegmental dysplasia with glaucoma
|
[NCBI]
|
4.32868e-05
|
|
|
blepharophimosis with facial and genital anomalies and mental retardation
|
[NCBI]
|
4.32868e-05
|
|
|
progeroid facial appearance with hand anomalies
|
[NCBI]
|
4.32868e-05
|
|
|
hypotonia, congenital nystagmus, ataxia, and abnormal auditory brainstem responses
|
[NCBI]
|
4.32868e-05
|
|
|
grant syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
ulnar hypoplasia with lobster-claw deformity of feet
|
[NCBI]
|
4.32868e-05
|
|
|
scarf syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
momo syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
gastrocutaneous syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification
|
[NCBI]
|
4.32868e-05
|
|
|
renal and mullerian duct hypoplasia
|
[NCBI]
|
4.32868e-05
|
|
|
multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism
|
[NCBI]
|
4.32868e-05
|
|
|
microphthalmia, posterior, with retinitis pigmentosa, foveoschisis, and optic disc drusen
|
[NCBI]
|
4.32868e-05
|
|
|
spondylospinal thoracic dysostosis
|
[NCBI]
|
4.32868e-05
|
|
|
hall-riggs mental retardation syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
polyposis, intestinal, with multiple exostoses
|
[NCBI]
|
4.32868e-05
|
|
|
dermatoosteolysis, kirghizian type
|
[NCBI]
|
4.32868e-05
|
|
|
anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
acrorenal syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
holoprosencephaly, semilobar, with craniosynostosis
|
[NCBI]
|
4.32868e-05
|
|
|
hyperphosphatemia, polyuria, and seizures
|
[NCBI]
|
4.32868e-05
|
|
|
diarrhea, glucose-stimulated secretory, with common variable immunodeficiency
|
[NCBI]
|
4.32868e-05
|
|
|
dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism
|
[NCBI]
|
4.32868e-05
|
|
|
fallot complex with severe mental and growth retardation
|
[NCBI]
|
4.32868e-05
|
|
|
FRA11B
|
[NCBI]
|
4.32868e-05
|
|
|
hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities
|
[NCBI]
|
4.32868e-05
|
|
|
radial ray hypoplasia with choanal atresia
|
[NCBI]
|
4.32868e-05
|
|
|
fanconi-like syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia
|
[NCBI]
|
4.32868e-05
|
|
|
acrokeratoderma, hereditary papulotranslucent
|
[NCBI]
|
4.32868e-05
|
|
|
glaucoma and sleep apnea
|
[NCBI]
|
4.32868e-05
|
|
|
osebold skeletal dysplasia/osteolysis syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
anonychia-onychodystrophy with brachydactyly type b and ectrodactyly
|
[NCBI]
|
4.32868e-05
|
|
|
trisomy 18-like syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
premature aging syndrome, okamoto type
|
[NCBI]
|
4.32868e-05
|
|
|
stormorken syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
pili torti and developmental delay
|
[NCBI]
|
4.32868e-05
|
|
|
amastia, bilateral, with ureteral triplication and dysmorphism
|
[NCBI]
|
4.32868e-05
|
|
|
emphysema, congenital, with deafness, penoscrotal web, and mental retardation
|
[NCBI]
|
4.32868e-05
|
|
|
fraser-like syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
optic atrophy, hearing loss, and peripheral neuropathy, autosomal dominant
|
[NCBI]
|
4.32868e-05
|
|
|
acrocraniofacial dysostosis
|
[NCBI]
|
4.32868e-05
|
|
|
wolff mental retardation syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
vocal cord paralysis and ptosis
|
[NCBI]
|
4.32868e-05
|
|
|
mental retardation, keratoconus, febrile seizures, and sinoatrial block
|
[NCBI]
|
4.32868e-05
|
|
|
laryngeal atresia, encephalocele, and limb deformities
|
[NCBI]
|
4.32868e-05
|
|
|
sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth
|
[NCBI]
|
4.32868e-05
|
|
|
osteopenia and sparse hair
|
[NCBI]
|
4.32868e-05
|
|
|
spondylometaphyseal dysplasia, axial
|
[NCBI]
|
4.32868e-05
|
|
|
immunodeficiency with hyper-igm, type 4
|
[NCBI]
|
4.32868e-05
|
|
|
chemodectoma, intraabdominal, with cutaneous angiolipomas
|
[NCBI]
|
4.32868e-05
|
|
|
dyggve-melchior-clausen syndrome, x-linked
|
[NCBI]
|
4.32868e-05
|
|
|
patent ductus arteriosus and bicuspid aortic valve with hand anomalies
|
[NCBI]
|
4.32868e-05
|
|
|
SSOS
|
[NCBI]
|
4.32868e-05
|
|
|
mandibulofacial dysostosis syndrome, bauru type
|
[NCBI]
|
4.32868e-05
|
|
|
rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction
|
[NCBI]
|
4.32868e-05
|
|
|
enteropathy, familial, with villous edema and immunoglobulin g2 deficiency
|
[NCBI]
|
4.32868e-05
|
|
|
finger locking, recurrent, with intrauterine growth retardation and proportionate short stature
|
[NCBI]
|
4.32868e-05
|
|
|
pfeiffer-palm-teller syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
ulnar agenesis and endocardial fibroelastosis
|
[NCBI]
|
4.32868e-05
|
|
|
pierre robin sequence with facial and digital anomalies
|
[NCBI]
|
4.32868e-05
|
|
|
hirschsprung disease with polydactyly, renal agenesis, and deafness
|
[NCBI]
|
4.32868e-05
|
|
|
brachydactyly, type e, with atrial septal defect, type ii
|
[NCBI]
|
4.32868e-05
|
|
|
corneodermatoosseous syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
metaphyseal chondrodysplasia with retinitis pigmentosa
|
[NCBI]
|
4.32868e-05
|
|
|
COFS2
|
[NCBI]
|
4.32868e-05
|
|
|
hhhh syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
multiple epiphyseal dysplasia with robin phenotype
|
[NCBI]
|
4.32868e-05
|
|
|
multiple exostoses with spastic tetraparesis
|
[NCBI]
|
4.32868e-05
|
|
|
friedreich ataxia and congenital glaucoma
|
[NCBI]
|
4.32868e-05
|
|
|
necrotizing encephalomyelopathy, subacute, of leigh, adult
|
[NCBI]
|
4.32868e-05
|
|
|
spastic paraplegia and evans syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
hypomagnesemia, hypertension, and hypercholesterolemia, mitochondrial
|
[NCBI]
|
4.32868e-05
|
|
|
microcephaly, facial abnormalities, micromelia, and mental retardation
|
[NCBI]
|
4.32868e-05
|
|
|
facial dysmorphism, selective tooth agenesis, and choroid calcification
|
[NCBI]
|
4.32868e-05
|
|
|
polydactyly, imperforate anus, and vertebral anomalies
|
[NCBI]
|
4.32868e-05
|
|
|
arthropathy, tendinous calcinosis, and progeroid features
|
[NCBI]
|
4.32868e-05
|
|
|
muscular hypertonia, lethal
|
[NCBI]
|
4.32868e-05
|
|
|
chorea, remitting, with nystagmus and cataract
|
[NCBI]
|
4.32868e-05
|
|
|
bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency
|
[NCBI]
|
4.32868e-05
|
|
|
growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
|
[NCBI]
|
4.32868e-05
|
|
|
arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
|
[NCBI]
|
4.32868e-05
|
|
|
thoracomelic dysplasia
|
[NCBI]
|
4.32868e-05
|
|
|
thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness
|
[NCBI]
|
4.32868e-05
|
|
|
enamel hypoplasia, cataracts, and aqueductal stenosis
|
[NCBI]
|
4.32868e-05
|
|
|
motor neuropathy, peripheral, with dysautonomia
|
[NCBI]
|
4.32868e-05
|
|
|
AGS5
|
[NCBI]
|
4.32868e-05
|
|
|
factor ix and factor xi, combined deficiency of
|
[NCBI]
|
4.32868e-05
|
|
|
facial abnormalities, kyphoscoliosis, and mental retardation
|
[NCBI]
|
4.32868e-05
|
|
|
SLSN5
|
[NCBI]
|
4.32868e-05
|
|
|
charcot-marie-tooth disease, guadalajara neuronal type
|
[NCBI]
|
4.32868e-05
|
|
|
hypertaurinuric cardiomyopathy
|
[NCBI]
|
4.32868e-05
|
|
|
NBIA2
|
[NCBI]
|
4.32868e-05
|
|
|
ophthalmoplegia, progressive, with scrotal tongue and mental deficiency
|
[NCBI]
|
4.32868e-05
|
|
|
myotonia with skeletal abnormalities and mental retardation
|
[NCBI]
|
4.32868e-05
|
|
|
vitiligo, progressive, with mental retardation and urethral duplication
|
[NCBI]
|
4.32868e-05
|
|
|
microcephaly with digital anomalies
|
[NCBI]
|
4.32868e-05
|
|
|
ulnar hypoplasia with mental retardation
|
[NCBI]
|
4.32868e-05
|
|
|
albinism-microcephaly-digital anomalies syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
cardiac malformation, cleft lip-palate, microcephaly and digital anomalies
|
[NCBI]
|
4.32868e-05
|
|
|
spastic paraplegia with neuropathy and poikiloderma
|
[NCBI]
|
4.32868e-05
|
|
|
intestinal pseudoobstruction with patent ductus arteriosus and natal teeth
|
[NCBI]
|
4.32868e-05
|
|
|
arterial dissection with lentiginosis
|
[NCBI]
|
4.32868e-05
|
|
|
spondylocamptodactyly
|
[NCBI]
|
4.32868e-05
|
|
|
HRX
|
[NCBI]
|
4.32868e-05
|
|
|
vascular hyalinosis
|
[NCBI]
|
4.32868e-05
|
|
|
skeletal dysplasia and progressive central nervous system degeneration, lethal
|
[NCBI]
|
4.32868e-05
|
|
|
spondyloepimetaphyseal dysplasia, genevieve type
|
[NCBI]
|
4.32868e-05
|
|
|
congenital corneal opacities, cornea guttata, and corectopia
|
[NCBI]
|
4.32868e-05
|
|
|
dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation
|
[NCBI]
|
4.32868e-05
|
|
|
CDG2F
|
[NCBI]
|
4.32868e-05
|
|
|
cardioskeletal syndrome, kuwaiti type
|
[NCBI]
|
4.32868e-05
|
|
|
spondyloepiphyseal dysplasia tarda with characteristic facies
|
[NCBI]
|
4.32868e-05
|
|
|
rhiny
|
[NCBI]
|
4.32868e-05
|
|
|
white forelock with malformations
|
[NCBI]
|
4.32868e-05
|
|
|
hypogonadism-cataract syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
simosa craniofacial syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
blepharoptosis, myopia, and ectopia lentis
|
[NCBI]
|
4.32868e-05
|
|
|
brachymesomelia-renal syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
ectodermal dysplasia syndrome with distinctive facial appearance and preaxial polydactyly of feet
|
[NCBI]
|
4.32868e-05
|
|
|
rodrigues blindness
|
[NCBI]
|
4.32868e-05
|
|
|
hyperbilirubinemia, conjugated, type iii
|
[NCBI]
|
4.32868e-05
|
|
|
craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation
|
[NCBI]
|
4.32868e-05
|
|
|
mental retardation, x-linked, with craniofacial dysmorphism
|
[NCBI]
|
4.32868e-05
|
|
|
cutaneous photosensitivity and colitis, lethal
|
[NCBI]
|
4.32868e-05
|
|
|
tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies
|
[NCBI]
|
4.32868e-05
|
|
|
SLSN6
|
[NCBI]
|
4.32868e-05
|
|
|
sao paulo mca/mr syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
diaphragmatic defects, limb deficiencies, and ossification defects of skull
|
[NCBI]
|
4.32868e-05
|
|
|
charcot-marie-tooth disease with ptosis and parkinsonism
|
[NCBI]
|
4.32868e-05
|
|
|
mental retardation, short stature, facial anomalies, and joint dislocations
|
[NCBI]
|
4.32868e-05
|
|
|
hypouricemia, hypercalcinuria, and decreased bone density
|
[NCBI]
|
4.32868e-05
|
|
|
exostoses with anetodermia and brachydactyly, type e
|
[NCBI]
|
4.32868e-05
|
|
|
dwarfism, mental retardation, and eye abnormality
|
[NCBI]
|
4.32868e-05
|
|
|
camptodactyly syndrome, guadalajara type ii
|
[NCBI]
|
4.32868e-05
|
|
|
cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects
|
[NCBI]
|
4.32868e-05
|
|
|
mental retardation, obesity, mandibular prognathism, and eye and skin anomalies
|
[NCBI]
|
4.32868e-05
|
|
|
deafness, conductive stapedial, with ear malformation and facial palsy
|
[NCBI]
|
4.32868e-05
|
|
|
3-@methylglutaconic aciduria, type v
|
[NCBI]
|
4.32868e-05
|
|
|
xfe progeroid syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
radioulnar synostosis, unilateral, with developmental retardation and hypotonia
|
[NCBI]
|
4.32868e-05
|
|
|
AGS3
|
[NCBI]
|
4.32868e-05
|
|
|
cataract, aberrant oral frenula, and growth retardation
|
[NCBI]
|
4.32868e-05
|
|
|
syndesmodysplasic dwarfism
|
[NCBI]
|
4.32868e-05
|
|
|
hyperlysinuria with hyperammonemia
|
[NCBI]
|
4.32868e-05
|
|
|
epilepsy-telangiectasia
|
[NCBI]
|
4.32868e-05
|
|
|
thoracic dysplasia-hydrocephalus syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
uruguay faciocardiomusculoskeletal syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
acanthosis nigricans with muscle cramps and acral enlargement
|
[NCBI]
|
4.32868e-05
|
|
|
cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation
|
[NCBI]
|
4.32868e-05
|
|
|
osteochondrodysplasia, rhizomelic, with callosal agenesis, thrombocytopenia, hydrocephalus, and hypertension
|
[NCBI]
|
4.32868e-05
|
|
|
short stature syndrome, brussels type
|
[NCBI]
|
4.32868e-05
|
|
|
COFS4
|
[NCBI]
|
4.32868e-05
|
|
|
ventricular extrasystoles with syncope, perodactyly, and robin sequence
|
[NCBI]
|
4.32868e-05
|
|
|
microcephaly, severe, with skeletal anomalies including posterior rib-gap defects
|
[NCBI]
|
4.32868e-05
|
|
|
cerebellar hypoplasia with endosteal sclerosis
|
[NCBI]
|
4.32868e-05
|
|
|
cryptomicrotia-brachydactyly syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease
|
[NCBI]
|
4.32868e-05
|
|
|
brachydactyly-syndactyly syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined
|
[NCBI]
|
4.32868e-05
|
|
|
lymphedema, atrial septal defect, and facial changes
|
[NCBI]
|
4.32868e-05
|
|
|
neuropathy, hereditary sensorimotor, with upper motor neuron, visual pathway and autonomic disturbance
|
[NCBI]
|
4.32868e-05
|
|
|
multiple congenital anomalies syndrome with cloverleaf skull
|
[NCBI]
|
4.32868e-05
|
|
|
spinocerebellar degeneration and corneal dystrophy
|
[NCBI]
|
4.32868e-05
|
|
|
growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia
|
[NCBI]
|
4.32868e-05
|
|
|
camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
|
[NCBI]
|
4.32868e-05
|
|
|
mental retardation, microcephaly, epilepsy, and coarse face
|
[NCBI]
|
4.32868e-05
|
|
|
alopecia universalis congenita, xy gonadal dysgenesis, and laryngomalacia
|
[NCBI]
|
4.32868e-05
|
|
|
becker nevus syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
agonadism, xy, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations
|
[NCBI]
|
4.32868e-05
|
|
|
camptodactyly-ichthyosis syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
MKS5
|
[NCBI]
|
4.32868e-05
|
|
|
macdermot-winter syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
craniosynostosis syndrome, autosomal recessive
|
[NCBI]
|
4.32868e-05
|
|
|
tetralogy of fallot syndrome, autosomal recessive
|
[NCBI]
|
4.32868e-05
|
|
|
radioulnar synostosis, radial ray abnormalities, and severe malformations in the male
|
[NCBI]
|
4.32868e-05
|
|
|
polydactyly, postaxial, with dental and vertebral anomalies
|
[NCBI]
|
4.32868e-05
|
|
|
atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease
|
[NCBI]
|
4.32868e-05
|
|
|
phaver syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
keratosis follicularis, dwarfism, and cerebral atrophy
|
[NCBI]
|
4.32868e-05
|
|
|
kallmann syndrome with spastic paraplegia
|
[NCBI]
|
4.32868e-05
|
|
|
CISS2
|
[NCBI]
|
4.32868e-05
|
|
|
nasal bones, absence of
|
[NCBI]
|
4.32868e-05
|
|
|
epiphyseal dysplasia of femoral head, myopia, and deafness
|
[NCBI]
|
4.32868e-05
|
|
|
brachydactyly-distal symphalangism syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
facial dysmorphism, cleft palate, hearing loss, and camptodactyly
|
[NCBI]
|
4.32868e-05
|
|
|
retinal nonattachment and falciform detachment
|
[NCBI]
|
4.32868e-05
|
|
|
odontotrichoungual-digital-palmar syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
cerebral malformation, seizures, hypertrichosis, and overlapping fingers
|
[NCBI]
|
4.32868e-05
|
|
|
scaphocephaly, maxillary retrusion, and mental retardation
|
[NCBI]
|
4.32868e-05
|
|
|
craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus
|
[NCBI]
|
4.32868e-05
|
|
|
ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin
|
[NCBI]
|
4.32868e-05
|
|
|
noncompaction of left ventricular myocardium with congenital heart defects
|
[NCBI]
|
4.32868e-05
|
|
|
fibromatosis, gingival, with distinctive facies
|
[NCBI]
|
4.32868e-05
|
|
|
incisors, lower central, absence of
|
[NCBI]
|
4.32868e-05
|
|
|
myasthenia, congenital, refractory to acetylcholinesterase inhibitors
|
[NCBI]
|
4.32868e-05
|
|
|
aural atresia, multiple congenital anomalies, and mental retardation
|
[NCBI]
|
4.32868e-05
|
|
|
spastic paraplegia, optic atrophy, microcephaly, and xy sex reversal
|
[NCBI]
|
4.32868e-05
|
|
|
liver fibrocystic disease and polydactyly
|
[NCBI]
|
4.32868e-05
|
|
|
chondrodysplasia-pseudohermaphroditism syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
german syndrome
|
[NCBI]
|
4.32868e-05
|
|
|
russell-silver syndrome, x-linked
|
[NCBI]
|
4.32868e-05
|
|
|
growth retardation, small and puffy hands and feet, and eczema
|
[NCBI]
|
4.32868e-05
|
|
|
EVC
|
[NCBI]
|
4.27166e-05
|
|
|
RTT
|
[NCBI]
|
4.2329e-05
|
|
|
SLC4A5
|
[NCBI]
|
4.21271e-05
|
|
|
ZNF141
|
[NCBI]
|
4.21271e-05
|
|
|
MYH10
|
[NCBI]
|
4.21271e-05
|
|
|
GLIS3
|
[NCBI]
|
4.21271e-05
|
|
|
LRPAP1
|
[NCBI]
|
4.21271e-05
|
|
|
SLC7A4
|
[NCBI]
|
4.21271e-05
|
|
|
WWTR1
|
[NCBI]
|
4.21271e-05
|
|
|
ESRRG
|
[NCBI]
|
4.21271e-05
|
|
|
WNT10A
|
[NCBI]
|
4.21271e-05
|
|
|
MTIF2
|
[NCBI]
|
4.21271e-05
|
|
|
HADHB
|
[NCBI]
|
4.21271e-05
|
|
|
CD96
|
[NCBI]
|
4.21271e-05
|
|
|
DNAJC19
|
[NCBI]
|
4.21271e-05
|
|
|
MFAP4
|
[NCBI]
|
4.21271e-05
|
|
|
TLL1
|
[NCBI]
|
4.21271e-05
|
|
|
RFPL3
|
[NCBI]
|
4.21271e-05
|
|
|
RFPL1S
|
[NCBI]
|
4.21271e-05
|
|
|
SMARCC2
|
[NCBI]
|
4.21271e-05
|
|
|
CASD1
|
[NCBI]
|
4.21271e-05
|
|
|
KLF14
|
[NCBI]
|
4.21271e-05
|
|
|
B3GALTL
|
[NCBI]
|
4.21271e-05
|
|
|
MED12L
|
[NCBI]
|
4.21271e-05
|
|
|
CLDN5
|
[NCBI]
|
4.21271e-05
|
|
|
PIP5K1C
|
[NCBI]
|
4.21271e-05
|
|
|
PLOD2
|
[NCBI]
|
4.21271e-05
|
|
|
SFRS7
|
[NCBI]
|
4.21271e-05
|
|
|
C8ORF1
|
[NCBI]
|
4.21271e-05
|
|
|
PRPS2
|
[NCBI]
|
4.21271e-05
|
|
|
SMARCD2
|
[NCBI]
|
4.21271e-05
|
|
|
PREB
|
[NCBI]
|
4.21271e-05
|
|
|
MACROD2
|
[NCBI]
|
4.21271e-05
|
|
|
ARVCF
|
[NCBI]
|
4.21271e-05
|
|
|
APPL2
|
[NCBI]
|
4.21271e-05
|
|
|
ZWINT
|
[NCBI]
|
4.21271e-05
|
|
|
KCNMB3
|
[NCBI]
|
4.21271e-05
|
|
|
RFPL3S
|
[NCBI]
|
4.21271e-05
|
|
|
SMARCD1
|
[NCBI]
|
4.21271e-05
|
|
|
FNIP1
|
[NCBI]
|
4.21271e-05
|
|
|
SMG6
|
[NCBI]
|
4.21271e-05
|
|
|
GNA14
|
[NCBI]
|
4.21271e-05
|
|
|
KIAA1279
|
[NCBI]
|
4.21271e-05
|
|
|
npl4, s. cerevisiae, homolog of
|
[NCBI]
|
4.21271e-05
|
|
|
SMARCC1
|
[NCBI]
|
4.21271e-05
|
|
|
CLCN4
|
[NCBI]
|
4.21271e-05
|
|
|
DGKQ
|
[NCBI]
|
4.21271e-05
|
|
|
PRKY
|
[NCBI]
|
4.21271e-05
|
|
|
PPA2
|
[NCBI]
|
4.21271e-05
|
|
|
SNAP29
|
[NCBI]
|
4.21271e-05
|
|
|
CPA5
|
[NCBI]
|
4.21271e-05
|
|
|
RFPL2
|
[NCBI]
|
4.21271e-05
|
|
|
P2RY14
|
[NCBI]
|
4.21271e-05
|
|
|
MPP1
|
[NCBI]
|
4.21271e-05
|
|
|
BARX2
|
[NCBI]
|
4.21271e-05
|
|
|
C7ORF10
|
[NCBI]
|
4.21271e-05
|
|
|
COTL1
|
[NCBI]
|
4.21271e-05
|
|
|
CSNK1D
|
[NCBI]
|
4.21271e-05
|
|
|
C2ORF34
|
[NCBI]
|
4.21271e-05
|
|
|
ZW10
|
[NCBI]
|
4.21271e-05
|
|
|
C1GALT1C1
|
[NCBI]
|
4.21271e-05
|
|
|
mental retardation, x-linked, with short stature
|
[NCBI]
|
4.21271e-05
|
|
|
FBXL16
|
[NCBI]
|
4.21271e-05
|
|
|
LAP3
|
[NCBI]
|
4.21271e-05
|
|
|
ADAMTS10
|
[NCBI]
|
4.21271e-05
|
|
|
EML1
|
[NCBI]
|
4.21271e-05
|
|
|
ZNF79
|
[NCBI]
|
4.21271e-05
|
|
|
EXOSC9
|
[NCBI]
|
4.21271e-05
|
|
|
RAB3GAP2
|
[NCBI]
|
4.21271e-05
|
|
|
RPL12
|
[NCBI]
|
4.21271e-05
|
|
|
DNASE1L1
|
[NCBI]
|
4.21271e-05
|
|
|
FREM1
|
[NCBI]
|
4.21271e-05
|
|
|
LBX2
|
[NCBI]
|
4.21271e-05
|
|
|
FLRT3
|
[NCBI]
|
4.21271e-05
|
|
|
CECR1
|
[NCBI]
|
4.21271e-05
|
|
|
MBD5
|
[NCBI]
|
4.21271e-05
|
|
|
FLII
|
[NCBI]
|
4.21271e-05
|
|
|
COPS3
|
[NCBI]
|
4.21271e-05
|
|
|
G6PD
|
[NCBI]
|
4.18048e-05
|
|
|
AHO
|
[NCBI]
|
4.16661e-05
|
|
|
XPD
|
[NCBI]
|
4.12592e-05
|
|
|
mitochondrial dna depletion syndrome, hepatocerebral form
|
[NCBI]
|
4.12592e-05
|
|
|
HNF1B
|
[NCBI]
|
4.07528e-05
|
|
|
PMS2
|
[NCBI]
|
4.07528e-05
|
|
|
APTX
|
[NCBI]
|
4.07528e-05
|
|
|
MID1
|
[NCBI]
|
4.04056e-05
|
|
|
ALDOA
|
[NCBI]
|
4.04056e-05
|
|
|
TUB
|
[NCBI]
|
4.04056e-05
|
|
|
CLDN1
|
[NCBI]
|
4.04056e-05
|
|
|
PRPS1
|
[NCBI]
|
4.04056e-05
|
|
|
KCNJ1
|
[NCBI]
|
4.04056e-05
|
|
|
NF1
|
[NCBI]
|
4.00785e-05
|
|
|
LPL
|
[NCBI]
|
4.00551e-05
|
|
|
HSAS
|
[NCBI]
|
3.96435e-05
|
|
|
MMP2
|
[NCBI]
|
3.95032e-05
|
|
|
MLH1
|
[NCBI]
|
3.92775e-05
|
|
|
ASMD
|
[NCBI]
|
3.89815e-05
|
|
|
LISX1
|
[NCBI]
|
3.89815e-05
|
|
|
chondrodysplasia, grebe type
|
[NCBI]
|
3.89815e-05
|
|
|
lymphedema, hereditary, ii
|
[NCBI]
|
3.89815e-05
|
|
|
dyskeratosis congenita, autosomal dominant
|
[NCBI]
|
3.89815e-05
|
|
|
abdominal obesity-metabolic syndrome
|
[NCBI]
|
3.81463e-05
|
|
|
ST8
|
[NCBI]
|
3.81463e-05
|
|
|
SHFM3
|
[NCBI]
|
3.81463e-05
|
|
|
DYT3
|
[NCBI]
|
3.79193e-05
|
|
|
CFTD
|
[NCBI]
|
3.79193e-05
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
3.79193e-05
|
|
|
NPHP1
|
[NCBI]
|
3.78793e-05
|
|
|
FGF10
|
[NCBI]
|
3.78793e-05
|
|
|
BBS4
|
[NCBI]
|
3.78793e-05
|
|
|
PAX1
|
[NCBI]
|
3.78793e-05
|
|
|
RAG2
|
[NCBI]
|
3.78793e-05
|
|
|
HSD17B10
|
[NCBI]
|
3.78793e-05
|
|
|
LOR
|
[NCBI]
|
3.78793e-05
|
|
|
RECQL4
|
[NCBI]
|
3.78793e-05
|
|
|
megaduodenum and/or megacystis
|
[NCBI]
|
3.76916e-05
|
|
|
LSA
|
[NCBI]
|
3.76695e-05
|
|
|
MEN2B
|
[NCBI]
|
3.7497e-05
|
|
|
CHRNE
|
[NCBI]
|
3.72851e-05
|
|
|
OFD8
|
[NCBI]
|
3.72677e-05
|
|
|
sprengel deformity
|
[NCBI]
|
3.72677e-05
|
|
|
MRX2
|
[NCBI]
|
3.72677e-05
|
|
|
cerebellar hypoplasia, mental retardation, and quadrupedal locomotion
|
[NCBI]
|
3.72677e-05
|
|
|
DA4
|
[NCBI]
|
3.72677e-05
|
|
|
laterality defects, autosomal dominant
|
[NCBI]
|
3.72677e-05
|
|
|
adducted thumbs syndrome
|
[NCBI]
|
3.72677e-05
|
|
|
MRX20
|
[NCBI]
|
3.72677e-05
|
|
|
neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers
|
[NCBI]
|
3.72677e-05
|
|
|
cowchock syndrome
|
[NCBI]
|
3.72677e-05
|
|
|
erythrokeratodermia variabilis 3
|
[NCBI]
|
3.72677e-05
|
|
|
earlobes, thickened, with conductive deafness from incudostapedial abnormalities
|
[NCBI]
|
3.72677e-05
|
|
|
osteogenesis imperfecta, type v
|
[NCBI]
|
3.72677e-05
|
|
|
DFNB5
|
[NCBI]
|
3.72677e-05
|
|
|
uncombable hair syndrome
|
[NCBI]
|
3.72677e-05
|
|
|
NCR
|
[NCBI]
|
3.72677e-05
|
|
|
OFD3
|
[NCBI]
|
3.72677e-05
|
|
|
CND
|
[NCBI]
|
3.72677e-05
|
|
|
mesomelic dysplasia, kantaputra type
|
[NCBI]
|
3.72677e-05
|
|
|
palpebral coloboma-lipoma syndrome
|
[NCBI]
|
3.72677e-05
|
|
|
dermal ridges, patternless
|
[NCBI]
|
3.72677e-05
|
|
|
chudley-mccullough syndrome
|
[NCBI]
|
3.72677e-05
|
|
|
split-hand/foot malformation with sensorineural hearing loss
|
[NCBI]
|
3.72677e-05
|
|
|
DYT15
|
[NCBI]
|
3.72677e-05
|
|
|
SCAR3
|
[NCBI]
|
3.72677e-05
|
|
|
aase-smith syndrome i
|
[NCBI]
|
3.72677e-05
|
|
|
osteogenesis imperfecta, type vi
|
[NCBI]
|
3.72677e-05
|
|
|
SEMDIT
|
[NCBI]
|
3.72677e-05
|
|
|
kartagener syndrome
|
[NCBI]
|
3.71663e-05
|
|
|
ALD
|
[NCBI]
|
3.70683e-05
|
|
|
AVP
|
[NCBI]
|
3.68247e-05
|
|
|
DBA
|
[NCBI]
|
3.6589e-05
|
|
|
TNFRSF1A
|
[NCBI]
|
3.59428e-05
|
|
|
RMRP
|
[NCBI]
|
3.56711e-05
|
|
|
CXORF5
|
[NCBI]
|
3.56711e-05
|
|
|
SLC25A13
|
[NCBI]
|
3.56711e-05
|
|
|
IGFALS
|
[NCBI]
|
3.55809e-05
|
|
|
robinow-sorauf syndrome
|
[NCBI]
|
3.55148e-05
|
|
|
keratitis, hereditary
|
[NCBI]
|
3.55148e-05
|
|
|
LISX2
|
[NCBI]
|
3.55148e-05
|
|
|
osteolysis, hereditary multicentric
|
[NCBI]
|
3.55148e-05
|
|
|
immunodeficiency with hyper-igm, type 2
|
[NCBI]
|
3.55148e-05
|
|
|
branchial myoclonus with spastic paraparesis and cerebellar ataxia
|
[NCBI]
|
3.55148e-05
|
|
|
polydactyly, preaxial iv
|
[NCBI]
|
3.55148e-05
|
|
|
yellow nail syndrome
|
[NCBI]
|
3.55148e-05
|
|
|
renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia
|
[NCBI]
|
3.55148e-05
|
|
|
polydactyly
|
[NCBI]
|
3.55148e-05
|
|
|
spinal muscular atrophy, type i, with congenital bone fractures
|
[NCBI]
|
3.55148e-05
|
|
|
DFNB12
|
[NCBI]
|
3.55148e-05
|
|
|
retinitis pigmentosa, x-linked, with recurrent respiratory infections
|
[NCBI]
|
3.55148e-05
|
|
|
tietz syndrome
|
[NCBI]
|
3.55148e-05
|
|
|
KRS
|
[NCBI]
|
3.55148e-05
|
|
|
UVS
|
[NCBI]
|
3.55148e-05
|
|
|
HHT
|
[NCBI]
|
3.50856e-05
|
|
|
glycogen storage disease ii
|
[NCBI]
|
3.50856e-05
|
|
|
hurler syndrome
|
[NCBI]
|
3.49039e-05
|
|
|
INAD1
|
[NCBI]
|
3.48736e-05
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
3.48736e-05
|
|
|
sacral defect with anterior meningocele
|
[NCBI]
|
3.48736e-05
|
|
|
SCZD4
|
[NCBI]
|
3.46838e-05
|
|
|
growth hormone insensitivity with immunodeficiency
|
[NCBI]
|
3.46838e-05
|
|
|
SCAR1
|
[NCBI]
|
3.46838e-05
|
|
|
DA1
|
[NCBI]
|
3.46838e-05
|
|
|
SPG17
|
[NCBI]
|
3.46838e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
3.4074e-05
|
|
|
FLI1
|
[NCBI]
|
3.37131e-05
|
|
|
CA2
|
[NCBI]
|
3.37131e-05
|
|
|
LIG4
|
[NCBI]
|
3.37131e-05
|
|
|
NF2
|
[NCBI]
|
3.30789e-05
|
|
|
SHFM1
|
[NCBI]
|
3.26422e-05
|
|
|
CTSC
|
[NCBI]
|
3.2463e-05
|
|
|
refsum disease, infantile form
|
[NCBI]
|
3.23066e-05
|
|
|
hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant
|
[NCBI]
|
3.23066e-05
|
|
|
epidermolysis bullosa with pyloric atresia
|
[NCBI]
|
3.23066e-05
|
|
|
CDPX1
|
[NCBI]
|
3.20857e-05
|
|
|
KRT17
|
[NCBI]
|
3.19569e-05
|
|
|
ZNF198
|
[NCBI]
|
3.19569e-05
|
|
|
GABRB3
|
[NCBI]
|
3.19569e-05
|
|
|
RSTS
|
[NCBI]
|
3.12701e-05
|
|
|
glioma of brain, familial
|
[NCBI]
|
3.12701e-05
|
|
|
AOI
|
[NCBI]
|
3.09422e-05
|
|
|
GCCD1
|
[NCBI]
|
3.09422e-05
|
|
|
wagr syndrome
|
[NCBI]
|
3.09422e-05
|
|
|
geleophysic dysplasia
|
[NCBI]
|
3.07574e-05
|
|
|
nephrolithiasis, calcium oxalate
|
[NCBI]
|
3.07574e-05
|
|
|
MCOP1
|
[NCBI]
|
3.07574e-05
|
|
|
amyotrophy, monomelic
|
[NCBI]
|
3.07574e-05
|
|
|
dupuytren contracture
|
[NCBI]
|
3.07574e-05
|
|
|
DA5
|
[NCBI]
|
3.07574e-05
|
|
|
HD
|
[NCBI]
|
3.03861e-05
|
|
|
BMPR1A
|
[NCBI]
|
3.0367e-05
|
|
|
ERCC1
|
[NCBI]
|
3.0367e-05
|
|
|
ATF4
|
[NCBI]
|
3.0367e-05
|
|
|
CHAC
|
[NCBI]
|
2.99369e-05
|
|
|
RCC1
|
[NCBI]
|
2.94785e-05
|
|
|
cleft lip/palate with abnormal thumbs and microcephaly
|
[NCBI]
|
2.93176e-05
|
|
|
melanoma-astrocytoma syndrome
|
[NCBI]
|
2.93176e-05
|
|
|
orthostatic intolerance
|
[NCBI]
|
2.93176e-05
|
|
|
watson syndrome
|
[NCBI]
|
2.93176e-05
|
|
|
PRTH
|
[NCBI]
|
2.93176e-05
|
|
|
SHFM4
|
[NCBI]
|
2.93176e-05
|
|
|
BMND1
|
[NCBI]
|
2.93176e-05
|
|
|
macrocephaly/autism syndrome
|
[NCBI]
|
2.93176e-05
|
|
|
JAE
|
[NCBI]
|
2.93176e-05
|
|
|
cardiomyopathy, dilated, with woolly hair and keratoderma
|
[NCBI]
|
2.93176e-05
|
|
|
choreoathetosis, hypothyroidism, and neonatal respiratory distress
|
[NCBI]
|
2.93176e-05
|
|
|
cleft, median, of upper lip with polyps of facial skin and nasal mucosa
|
[NCBI]
|
2.93176e-05
|
|
|
polymicrogyria, bilateral frontoparietal
|
[NCBI]
|
2.93176e-05
|
|
|
pelvis-shoulder dysplasia
|
[NCBI]
|
2.93176e-05
|
|
|
loose anagen hair syndrome
|
[NCBI]
|
2.93176e-05
|
|
|
AIHHT
|
[NCBI]
|
2.93176e-05
|
|
|
GJA1
|
[NCBI]
|
2.89468e-05
|
|
|
KSS
|
[NCBI]
|
2.89192e-05
|
|
|
HSD11B1
|
[NCBI]
|
2.89168e-05
|
|
|
ITGB4
|
[NCBI]
|
2.89168e-05
|
|
|
SLC16A2
|
[NCBI]
|
2.89168e-05
|
|
|
RAG1
|
[NCBI]
|
2.89168e-05
|
|
|
hypogonadotropic hypogonadism
|
[NCBI]
|
2.87576e-05
|
|
|
diaphragmatic hernia, congenital
|
[NCBI]
|
2.87195e-05
|
|
|
RNASE3
|
[NCBI]
|
2.86451e-05
|
|
|
aortic valve disease
|
[NCBI]
|
2.85895e-05
|
|
|
B4GALT7
|
[NCBI]
|
2.84909e-05
|
|
|
ZNF136
|
[NCBI]
|
2.84909e-05
|
|
|
ST3GAL5
|
[NCBI]
|
2.84909e-05
|
|
|
ZNF154
|
[NCBI]
|
2.84909e-05
|
|
|
KARS
|
[NCBI]
|
2.84909e-05
|
|
|
SOAT2
|
[NCBI]
|
2.84909e-05
|
|
|
NONO
|
[NCBI]
|
2.84909e-05
|
|
|
TCL6
|
[NCBI]
|
2.84909e-05
|
|
|
FGF13
|
[NCBI]
|
2.84909e-05
|
|
|
ZNF133
|
[NCBI]
|
2.84909e-05
|
|
|
MAP3K3
|
[NCBI]
|
2.84909e-05
|
|
|
SLC2A8
|
[NCBI]
|
2.84909e-05
|
|
|
NDUFB9
|
[NCBI]
|
2.84909e-05
|
|
|
ZKSCAN1
|
[NCBI]
|
2.84909e-05
|
|
|
ZNF140
|
[NCBI]
|
2.84909e-05
|
|
|
LEMD3
|
[NCBI]
|
2.84909e-05
|
|
|
SLC25A18
|
[NCBI]
|
2.84909e-05
|
|
|
PRKAB1
|
[NCBI]
|
2.84909e-05
|
|
|
SOX8
|
[NCBI]
|
2.84909e-05
|
|
|
UBR1
|
[NCBI]
|
2.84909e-05
|
|
|
ZNF151
|
[NCBI]
|
2.84909e-05
|
|
|
DIO1
|
[NCBI]
|
2.84909e-05
|
|
|
NTF5
|
[NCBI]
|
2.84909e-05
|
|
|
PFKP
|
[NCBI]
|
2.84909e-05
|
|
|
RAB23
|
[NCBI]
|
2.84909e-05
|
|
|
KCNJ12
|
[NCBI]
|
2.84909e-05
|
|
|
ZNF131
|
[NCBI]
|
2.84909e-05
|
|
|
CECR2
|
[NCBI]
|
2.84909e-05
|
|
|
acidic cluster protein, 33-kd
|
[NCBI]
|
2.84909e-05
|
|
|
INSL4
|
[NCBI]
|
2.84909e-05
|
|
|
ZNF135
|
[NCBI]
|
2.84909e-05
|
|
|
LLGL1
|
[NCBI]
|
2.84909e-05
|
|
|
CTDP1
|
[NCBI]
|
2.84909e-05
|
|
|
ARHGAP6
|
[NCBI]
|
2.84909e-05
|
|
|
CASP8AP2
|
[NCBI]
|
2.84909e-05
|
|
|
MYH3
|
[NCBI]
|
2.84909e-05
|
|
|
CSPG2
|
[NCBI]
|
2.84909e-05
|
|
|
APPL1
|
[NCBI]
|
2.84909e-05
|
|
|
KCNE1L
|
[NCBI]
|
2.84909e-05
|
|
|
ELA1
|
[NCBI]
|
2.84909e-05
|
|
|
PTPN12
|
[NCBI]
|
2.84909e-05
|
|
|
ZNF132
|
[NCBI]
|
2.84909e-05
|
|
|
BARHL1
|
[NCBI]
|
2.84909e-05
|
|
|
PRKAA1
|
[NCBI]
|
2.84909e-05
|
|
|
IQCB1
|
[NCBI]
|
2.84909e-05
|
|
|
PFN2
|
[NCBI]
|
2.84909e-05
|
|
|
ANGPTL2
|
[NCBI]
|
2.84909e-05
|
|
|
IL17RA
|
[NCBI]
|
2.84909e-05
|
|
|
HYLS1
|
[NCBI]
|
2.84909e-05
|
|
|
PRRX2
|
[NCBI]
|
2.84909e-05
|
|
|
ABHD5
|
[NCBI]
|
2.84909e-05
|
|
|
PRKAG1
|
[NCBI]
|
2.84909e-05
|
|
|
ste20-related adaptor protein
|
[NCBI]
|
2.84909e-05
|
|
|
SMARCD3
|
[NCBI]
|
2.84909e-05
|
|
|
RFPL1
|
[NCBI]
|
2.84909e-05
|
|
|
ZNF138
|
[NCBI]
|
2.84909e-05
|
|
|
CLCF1
|
[NCBI]
|
2.84909e-05
|
|
|
DECR1
|
[NCBI]
|
2.84909e-05
|
|
|
CALB1
|
[NCBI]
|
2.84909e-05
|
|
|
MAP2K2
|
[NCBI]
|
2.84909e-05
|
|
|
POMT2
|
[NCBI]
|
2.84909e-05
|
|
|
ZNF134
|
[NCBI]
|
2.84909e-05
|
|
|
ZNF142
|
[NCBI]
|
2.84909e-05
|
|
|
RCN1
|
[NCBI]
|
2.84909e-05
|
|
|
CRK
|
[NCBI]
|
2.84909e-05
|
|
|
MRX49
|
[NCBI]
|
2.84909e-05
|
|
|
UBR2
|
[NCBI]
|
2.84909e-05
|
|
|
TPST1
|
[NCBI]
|
2.84909e-05
|
|
|
SNX15
|
[NCBI]
|
2.84909e-05
|
|
|
USP26
|
[NCBI]
|
2.84909e-05
|
|
|
EXOSC10
|
[NCBI]
|
2.84909e-05
|
|
|
SLC25A12
|
[NCBI]
|
2.84909e-05
|
|
|
IGF2BP3
|
[NCBI]
|
2.84909e-05
|
|
|
ZNF155
|
[NCBI]
|
2.84909e-05
|
|
|
ZNF143
|
[NCBI]
|
2.84909e-05
|
|
|
ATP6V0E1
|
[NCBI]
|
2.84909e-05
|
|
|
CD48
|
[NCBI]
|
2.84909e-05
|
|
|
AL-A1
|
[NCBI]
|
2.84909e-05
|
|
|
MDH1
|
[NCBI]
|
2.84909e-05
|
|
|
PLA2G6
|
[NCBI]
|
2.84909e-05
|
|
|
CRMP1
|
[NCBI]
|
2.84909e-05
|
|
|
ELF3
|
[NCBI]
|
2.84909e-05
|
|
|
SC5DL
|
[NCBI]
|
2.84909e-05
|
|
|
SEC23A
|
[NCBI]
|
2.84909e-05
|
|
|
MNT
|
[NCBI]
|
2.84909e-05
|
|
|
DRG2
|
[NCBI]
|
2.84909e-05
|
|
|
RNU3
|
[NCBI]
|
2.84909e-05
|
|
|
ZNF137
|
[NCBI]
|
2.84909e-05
|
|
|
SLC2A2
|
[NCBI]
|
2.78043e-05
|
|
|
CCM
|
[NCBI]
|
2.77053e-05
|
|
|
disorganization, mouse, homolog of
|
[NCBI]
|
2.76529e-05
|
|
|
PRODH
|
[NCBI]
|
2.75852e-05
|
|
|
SMA1
|
[NCBI]
|
2.72207e-05
|
|
|
ACPP
|
[NCBI]
|
2.7175e-05
|
|
|
SHBG
|
[NCBI]
|
2.71448e-05
|
|
|
SOX2
|
[NCBI]
|
2.63558e-05
|
|
|
ERCC6
|
[NCBI]
|
2.63558e-05
|
|
|
BGN
|
[NCBI]
|
2.63558e-05
|
|
|
CFEOM3
|
[NCBI]
|
2.60701e-05
|
|
|
ocular motor apraxia
|
[NCBI]
|
2.60701e-05
|
|
|
VCP
|
[NCBI]
|
2.5817e-05
|
|
|
TBX1
|
[NCBI]
|
2.52154e-05
|
|
|
KL
|
[NCBI]
|
2.52154e-05
|
|
|
TLR4
|
[NCBI]
|
2.51759e-05
|
|
|
scott syndrome
|
[NCBI]
|
2.5121e-05
|
|
|
EDMD2
|
[NCBI]
|
2.49937e-05
|
|
|
TD1
|
[NCBI]
|
2.49528e-05
|
|
|
CTGF
|
[NCBI]
|
2.49422e-05
|
|
|
SACS
|
[NCBI]
|
2.47393e-05
|
|
|
HFTC
|
[NCBI]
|
2.46622e-05
|
|
|
nephrosialidosis
|
[NCBI]
|
2.45019e-05
|
|
|
pseudodiastrophic dysplasia
|
[NCBI]
|
2.45019e-05
|
|
|
amme complex
|
[NCBI]
|
2.45019e-05
|
|
|
alternating hemiplegia of childhood
|
[NCBI]
|
2.45019e-05
|
|
|
familial mediterranean fever, autosomal dominant
|
[NCBI]
|
2.45019e-05
|
|
|
epidermolysis bullosa with congenital localized absence of skin and deformity of nails
|
[NCBI]
|
2.45019e-05
|
|
|
ED1
|
[NCBI]
|
2.42193e-05
|
|
|
FOP
|
[NCBI]
|
2.42073e-05
|
|
|
breast cancer
|
[NCBI]
|
2.42073e-05
|
|
|
IL5
|
[NCBI]
|
2.41531e-05
|
|
|
THRA
|
[NCBI]
|
2.41531e-05
|
|
|
GAD2
|
[NCBI]
|
2.41531e-05
|
|
|
MTTS1
|
[NCBI]
|
2.41531e-05
|
|
|
FBN1
|
[NCBI]
|
2.39641e-05
|
|
|
LKS
|
[NCBI]
|
2.37227e-05
|
|
|
DSC1
|
[NCBI]
|
2.3434e-05
|
|
|
SLC25A19
|
[NCBI]
|
2.3434e-05
|
|
|
DYNLL1
|
[NCBI]
|
2.3434e-05
|
|
|
TIMM13
|
[NCBI]
|
2.3434e-05
|
|
|
GTF2H5
|
[NCBI]
|
2.3434e-05
|
|
|
LHX3
|
[NCBI]
|
2.3434e-05
|
|
|
TGFA
|
[NCBI]
|
2.3434e-05
|
|
|
PROZ
|
[NCBI]
|
2.3434e-05
|
|
|
FREM2
|
[NCBI]
|
2.3434e-05
|
|
|
MTTA
|
[NCBI]
|
2.3434e-05
|
|
|
IL11RA
|
[NCBI]
|
2.3434e-05
|
|
|
NFIA
|
[NCBI]
|
2.3434e-05
|
|
|
ZNF148
|
[NCBI]
|
2.3434e-05
|
|
|
CLTCL1
|
[NCBI]
|
2.3434e-05
|
|
|
solute carrier family 26 (anion transporter), member 6: slc26a6
|
[NCBI]
|
2.3434e-05
|
|
|
CHL1
|
[NCBI]
|
2.3434e-05
|
|
|
SAT1
|
[NCBI]
|
2.3434e-05
|
|
|
OTOG
|
[NCBI]
|
2.3434e-05
|
|
|
ANK3
|
[NCBI]
|
2.3434e-05
|
|
|
SNX3
|
[NCBI]
|
2.3434e-05
|
|
|
CRELD1
|
[NCBI]
|
2.3434e-05
|
|
|
ADAMTS1
|
[NCBI]
|
2.3434e-05
|
|
|
MRPS22
|
[NCBI]
|
2.3434e-05
|
|
|
DLX5
|
[NCBI]
|
2.3434e-05
|
|
|
ATP6V0A2
|
[NCBI]
|
2.3434e-05
|
|
|
BCAP31
|
[NCBI]
|
2.3434e-05
|
|
|
LUM
|
[NCBI]
|
2.3434e-05
|
|
|
IDH3G
|
[NCBI]
|
2.3434e-05
|
|
|
GRIP1
|
[NCBI]
|
2.3434e-05
|
|
|
GPD1L
|
[NCBI]
|
2.3434e-05
|
|
|
PAX4
|
[NCBI]
|
2.3434e-05
|
|
|
BMP5
|
[NCBI]
|
2.3434e-05
|
|
|
SEMA3E
|
[NCBI]
|
2.3434e-05
|
|
|
SLC12A6
|
[NCBI]
|
2.3434e-05
|
|
|
STRA6
|
[NCBI]
|
2.3434e-05
|
|
|
OPA3
|
[NCBI]
|
2.3434e-05
|
|
|
UFD1L
|
[NCBI]
|
2.3434e-05
|
|
|
CHRNG
|
[NCBI]
|
2.3434e-05
|
|
|
PPA1
|
[NCBI]
|
2.3434e-05
|
|
|
ROBO3
|
[NCBI]
|
2.3434e-05
|
|
|
CLDN7
|
[NCBI]
|
2.3434e-05
|
|
|
GLDC
|
[NCBI]
|
2.31599e-05
|
|
|
hyperekplexia, hereditary
|
[NCBI]
|
2.29826e-05
|
|
|
EAOH
|
[NCBI]
|
2.29826e-05
|
|
|
SVAS
|
[NCBI]
|
2.281e-05
|
|
|
EDN3
|
[NCBI]
|
2.22285e-05
|
|
|
GJB6
|
[NCBI]
|
2.22285e-05
|
|
|
deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy
|
[NCBI]
|
2.19771e-05
|
|
|
acrofacial dysostosis, catania type
|
[NCBI]
|
2.19771e-05
|
|
|
micromelic dysplasia, congenital, with dislocation of radius
|
[NCBI]
|
2.19771e-05
|
|
|
patterson pseudoleprechaunism syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
MCOPCT3
|
[NCBI]
|
2.19771e-05
|
|
|
metaphyseal dysplasia without hypotrichosis
|
[NCBI]
|
2.19771e-05
|
|
|
pancreatitis, sclerosing cholangitis, and sicca complex
|
[NCBI]
|
2.19771e-05
|
|
|
SLSN4
|
[NCBI]
|
2.19771e-05
|
|
|
combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia
|
[NCBI]
|
2.19771e-05
|
|
|
ataxia-microcephaly-cataract syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
pierre robin syndrome and oligodactyly
|
[NCBI]
|
2.19771e-05
|
|
|
caudal duplication anomaly
|
[NCBI]
|
2.19771e-05
|
|
|
mast syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia
|
[NCBI]
|
2.19771e-05
|
|
|
dwarfism with stiff joints and ocular abnormalities
|
[NCBI]
|
2.19771e-05
|
|
|
devriendt syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
deafness, congenital, with total albinism
|
[NCBI]
|
2.19771e-05
|
|
|
mental retardation syndrome, mietens-weber type
|
[NCBI]
|
2.19771e-05
|
|
|
JBTS6
|
[NCBI]
|
2.19771e-05
|
|
|
VUR2
|
[NCBI]
|
2.19771e-05
|
|
|
kniest-like dysplasia with pursed lips and ectopia lentis
|
[NCBI]
|
2.19771e-05
|
|
|
noonan-like syndrome with loose anagen hair
|
[NCBI]
|
2.19771e-05
|
|
|
pellagra-like syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
second metatarsal-metacarpal syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
corpus callosum, agenesis of, with abnormal genitalia
|
[NCBI]
|
2.19771e-05
|
|
|
velofacioskeletal syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
radial aplasia, x-linked
|
[NCBI]
|
2.19771e-05
|
|
|
spondyloepimetaphyseal dysplasia with hypotrichosis
|
[NCBI]
|
2.19771e-05
|
|
|
pseudoacromegaly with severe insulin resistance
|
[NCBI]
|
2.19771e-05
|
|
|
radioulnar synostosis with amegakaryocytic thrombocytopenia
|
[NCBI]
|
2.19771e-05
|
|
|
SQT2
|
[NCBI]
|
2.19771e-05
|
|
|
biemond syndrome ii
|
[NCBI]
|
2.19771e-05
|
|
|
craniosynostosis with fibular aplasia
|
[NCBI]
|
2.19771e-05
|
|
|
myoclonus, cerebellar ataxia, and deafness
|
[NCBI]
|
2.19771e-05
|
|
|
ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis
|
[NCBI]
|
2.19771e-05
|
|
|
MRD1
|
[NCBI]
|
2.19771e-05
|
|
|
crane-heise syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
hernia, anterior diaphragmatic
|
[NCBI]
|
2.19771e-05
|
|
|
suprabulbar paresis, congenital
|
[NCBI]
|
2.19771e-05
|
|
|
keratosis linearis with ichthyosis congenita and sclerosing keratoderma
|
[NCBI]
|
2.19771e-05
|
|
|
skeletal dysplasia with telangiectases and mesodermal dysgenesis of the iris
|
[NCBI]
|
2.19771e-05
|
|
|
dandy-walker malformation with postaxial polydactyly
|
[NCBI]
|
2.19771e-05
|
|
|
ermine phenotype
|
[NCBI]
|
2.19771e-05
|
|
|
urticaria, familial localized heat
|
[NCBI]
|
2.19771e-05
|
|
|
camptodactyly, tall stature, and hearing loss syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
myokymia with neonatal epilepsy
|
[NCBI]
|
2.19771e-05
|
|
|
hemifacial myohyperplasia
|
[NCBI]
|
2.19771e-05
|
|
|
chondrodysplasia punctata syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
morquio syndrome, nonkeratosulfate-excreting type
|
[NCBI]
|
2.19771e-05
|
|
|
mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor
|
[NCBI]
|
2.19771e-05
|
|
|
ABSD
|
[NCBI]
|
2.19771e-05
|
|
|
lymphedema and ptosis
|
[NCBI]
|
2.19771e-05
|
|
|
coxoauricular syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum
|
[NCBI]
|
2.19771e-05
|
|
|
syndactyly, type v
|
[NCBI]
|
2.19771e-05
|
|
|
ichthyosis, hystrix-like, with deafness
|
[NCBI]
|
2.19771e-05
|
|
|
factors viii, ix and xi, combined deficiency of
|
[NCBI]
|
2.19771e-05
|
|
|
spinocerebellar degeneration with macular corneal dystrophy, congenital cataracts, and myopia
|
[NCBI]
|
2.19771e-05
|
|
|
mullerian aplasia
|
[NCBI]
|
2.19771e-05
|
|
|
biliary malformation with renal tubular insufficiency
|
[NCBI]
|
2.19771e-05
|
|
|
aortic arch interruption, facial palsy, and retinal coloboma
|
[NCBI]
|
2.19771e-05
|
|
|
pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies
|
[NCBI]
|
2.19771e-05
|
|
|
cataract-ataxia-deafness-retardation syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
microcephalic primordial dwarfism, toriello type
|
[NCBI]
|
2.19771e-05
|
|
|
OFD7
|
[NCBI]
|
2.19771e-05
|
|
|
ectrodactyly of lower limbs, congenital heart defect, and micrognathia
|
[NCBI]
|
2.19771e-05
|
|
|
stratton-parker syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
puerto rican infant hypotonia syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
ectrodactyly and ectodermal dysplasia without cleft lip/palate
|
[NCBI]
|
2.19771e-05
|
|
|
hyperkeratosis-hyperpigmentation syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
laryngeal abductor paralysis
|
[NCBI]
|
2.19771e-05
|
|
|
IS3
|
[NCBI]
|
2.19771e-05
|
|
|
mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
|
[NCBI]
|
2.19771e-05
|
|
|
arthrogryposis, distal, type 2e
|
[NCBI]
|
2.19771e-05
|
|
|
CLSD
|
[NCBI]
|
2.19771e-05
|
|
|
leiomyoma of vulva and esophagus
|
[NCBI]
|
2.19771e-05
|
|
|
brachyrachia
|
[NCBI]
|
2.19771e-05
|
|
|
pterygium syndrome, multiple, autosomal dominant
|
[NCBI]
|
2.19771e-05
|
|
|
stocco dos santos x-linked mental retardation syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
splenomegaly syndrome with splenic germinal center hypoplasia and reduced circulating t-helper cells
|
[NCBI]
|
2.19771e-05
|
|
|
fascial dystrophy, congenital
|
[NCBI]
|
2.19771e-05
|
|
|
aplasia cutis congenita, high myopia, and cone-rod dysfunction
|
[NCBI]
|
2.19771e-05
|
|
|
noonan syndrome 3
|
[NCBI]
|
2.19771e-05
|
|
|
fibromatosis, gingival, with hypertrichosis and mental retardation
|
[NCBI]
|
2.19771e-05
|
|
|
paraganglioma and gastric stromal sarcoma
|
[NCBI]
|
2.19771e-05
|
|
|
dystonia, juvenile-onset
|
[NCBI]
|
2.19771e-05
|
|
|
ulna metaphyseal dysplasia syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
dk phocomelia syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
sjogren-larsson-like ichthyosis without cns or eye involvement
|
[NCBI]
|
2.19771e-05
|
|
|
deafness, autosomal recessive
|
[NCBI]
|
2.19771e-05
|
|
|
breasts and nipples, absence of
|
[NCBI]
|
2.19771e-05
|
|
|
amish infantile epilepsy syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
polysyndactyly with cardiac malformation
|
[NCBI]
|
2.19771e-05
|
|
|
mental retardation, x-linked, with brachydactyly and macroglossia
|
[NCBI]
|
2.19771e-05
|
|
|
pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease
|
[NCBI]
|
2.19771e-05
|
|
|
neuropathy, hereditary sensory, atypical
|
[NCBI]
|
2.19771e-05
|
|
|
severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation
|
[NCBI]
|
2.19771e-05
|
|
|
hyper-beta-alaninemia
|
[NCBI]
|
2.19771e-05
|
|
|
bor-duane hydrocephalus contiguous gene syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
aniridia, partial, with unilateral renal agenesis and psychomotor retardation
|
[NCBI]
|
2.19771e-05
|
|
|
radial-renal syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
pelvic hypoplasia with lower-limb arthrogryposis
|
[NCBI]
|
2.19771e-05
|
|
|
scott craniodigital syndrome with mental retardation
|
[NCBI]
|
2.19771e-05
|
|
|
paralysis agitans, juvenile, of hunt
|
[NCBI]
|
2.19771e-05
|
|
|
intrauterine growth retardation with increased mitomycin c sensitivity
|
[NCBI]
|
2.19771e-05
|
|
|
creases, infra-auricular cutaneous, with tall stature and advanced bone age
|
[NCBI]
|
2.19771e-05
|
|
|
odontoma-dysphagia syndrome
|
[NCBI]
|
2.19771e-05
|
|
|
limb deficiencies, distal, with micrognathia
|
[NCBI]
|
2.19771e-05
|
|
|
prader-willi habitus, osteopenia, and camptodactyly
|
[NCBI]
|
2.19771e-05
|
|
|
encephalopathy with intracranial calcification, growth hormone deficiency, microcephaly, and retinal degeneration
|
[NCBI]
|
2.19771e-05
|
|
|
thoracopelvic dysostosis
|
[NCBI]
|
2.19771e-05
|
|
|
uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly
|
[NCBI]
|
2.19771e-05
|
|
|
MITF
|
[NCBI]
|
2.16384e-05
|
|
|
EFE
|
[NCBI]
|
2.1477e-05
|
|
|
3-@hydroxy-3-methylglutaryl-coa lyase deficiency
|
[NCBI]
|
2.13523e-05
|
|
|
DRPLA
|
[NCBI]
|
2.13523e-05
|
|
|
PPARA
|
[NCBI]
|
2.12028e-05
|
|
|
UCMD
|
[NCBI]
|
2.112e-05
|
|
|
IBMPFD
|
[NCBI]
|
2.06266e-05
|
|
|
BDE
|
[NCBI]
|
2.06266e-05
|
|
|
oeis complex
|
[NCBI]
|
2.06266e-05
|
|
|
situs inversus viscerum
|
[NCBI]
|
2.06266e-05
|
|
|
eunuchoidism, familial hypogonadotropic
|
[NCBI]
|
2.06266e-05
|
|
|
MRX9
|
[NCBI]
|
2.06266e-05
|
|
|
chondrodysplasia punctata, tibia-metacarpal type
|
[NCBI]
|
2.06266e-05
|
|
|
RP
|
[NCBI]
|
2.06002e-05
|
|
|
SLC25A4
|
[NCBI]
|
2.0526e-05
|
|
|
PTCH1
|
[NCBI]
|
2.0526e-05
|
|
|
EMD
|
[NCBI]
|
2.0526e-05
|
|
|
OPA1
|
[NCBI]
|
2.0526e-05
|
|
|
ZFP36
|
[NCBI]
|
2.0526e-05
|
|
|
HP
|
[NCBI]
|
2.03407e-05
|
|
|
SLC2A10
|
[NCBI]
|
2.02007e-05
|
|
|
CAPN1
|
[NCBI]
|
2.02007e-05
|
|
|
SLC34A3
|
[NCBI]
|
2.02007e-05
|
|
|
FBXW4
|
[NCBI]
|
2.02007e-05
|
|
|
PLEKHC1
|
[NCBI]
|
2.02007e-05
|
|
|
POLR2A
|
[NCBI]
|
2.02007e-05
|
|
|
PON3
|
[NCBI]
|
2.02007e-05
|
|
|
CAMK2G
|
[NCBI]
|
2.02007e-05
|
|
|
EFEMP2
|
[NCBI]
|
2.02007e-05
|
|
|
EFHC1
|
[NCBI]
|
2.02007e-05
|
|
|
TRPM7
|
[NCBI]
|
2.02007e-05
|
|
|
NHEJ1
|
[NCBI]
|
2.02007e-05
|
|
|
MCC
|
[NCBI]
|
2.02007e-05
|
|
|
PHF8
|
[NCBI]
|
2.02007e-05
|
|
|
CXORF6
|
[NCBI]
|
2.02007e-05
|
|
|
HBE1
|
[NCBI]
|
2.02007e-05
|
|
|
CD63
|
[NCBI]
|
2.02007e-05
|
|
|
MGP
|
[NCBI]
|
2.02007e-05
|
|
|
CSH1
|
[NCBI]
|
2.02007e-05
|
|
|
EYA2
|
[NCBI]
|
2.02007e-05
|
|
|
AP1S2
|
[NCBI]
|
2.02007e-05
|
|
|
DLG1
|
[NCBI]
|
2.02007e-05
|
|
|
VCX3A
|
[NCBI]
|
2.02007e-05
|
|
|
CPA4
|
[NCBI]
|
2.02007e-05
|
|
|
PTF1A
|
[NCBI]
|
2.02007e-05
|
|
|
SEPT4
|
[NCBI]
|
2.02007e-05
|
|
|
STXBP1
|
[NCBI]
|
2.02007e-05
|
|
|
PKP1
|
[NCBI]
|
2.02007e-05
|
|
|
SLC12A1
|
[NCBI]
|
2.02007e-05
|
|
|
JK
|
[NCBI]
|
2.02007e-05
|
|
|
CHRNA7
|
[NCBI]
|
2.02007e-05
|
|
|
CD1B
|
[NCBI]
|
2.02007e-05
|
|
|
FAM20C
|
[NCBI]
|
2.02007e-05
|
|
|
SGNE1
|
[NCBI]
|
2.02007e-05
|
|
|
RAD50
|
[NCBI]
|
2.02007e-05
|
|
|
CATSPER2
|
[NCBI]
|
2.02007e-05
|
|
|
NEDD4
|
[NCBI]
|
2.02007e-05
|
|
|
PVALB
|
[NCBI]
|
2.02007e-05
|
|
|
H3F3A
|
[NCBI]
|
2.02007e-05
|
|
|
ORM1
|
[NCBI]
|
2.02007e-05
|
|
|
TBX19
|
[NCBI]
|
2.02007e-05
|
|
|
INCENP
|
[NCBI]
|
2.02007e-05
|
|
|
COLQ
|
[NCBI]
|
2.02007e-05
|
|
|
SLC4A11
|
[NCBI]
|
2.02007e-05
|
|
|
TROVE2
|
[NCBI]
|
2.02007e-05
|
|
|
GOT1
|
[NCBI]
|
2.02007e-05
|
|
|
NDST2
|
[NCBI]
|
2.02007e-05
|
|
|
FOXI1
|
[NCBI]
|
2.02007e-05
|
|
|
BCOR
|
[NCBI]
|
2.02007e-05
|
|
|
KRT6A
|
[NCBI]
|
2.02007e-05
|
|
|
EPS15
|
[NCBI]
|
2.02007e-05
|
|
|
SPG20
|
[NCBI]
|
2.02007e-05
|
|
|
GLI2
|
[NCBI]
|
2.02007e-05
|
|
|
down syndrome
|
[NCBI]
|
1.99917e-05
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
1.98167e-05
|
|
|
SCN1A
|
[NCBI]
|
1.97449e-05
|
|
|
cutis laxa, x-linked
|
[NCBI]
|
1.93927e-05
|
|
|
HGPS
|
[NCBI]
|
1.93572e-05
|
|
|
HSAN3
|
[NCBI]
|
1.91659e-05
|
|
|
DURS1
|
[NCBI]
|
1.91309e-05
|
|
|
omodysplasia, generalized form
|
[NCBI]
|
1.90563e-05
|
|
|
visceral neuropathy, familial, autosomal recessive
|
[NCBI]
|
1.90563e-05
|
|
|
AKE
|
[NCBI]
|
1.90563e-05
|
|
|
SPG5A
|
[NCBI]
|
1.90563e-05
|
|
|
achoo syndrome
|
[NCBI]
|
1.90563e-05
|
|
|
carnitine deficiency, myopathic
|
[NCBI]
|
1.90563e-05
|
|
|
HYPX
|
[NCBI]
|
1.90563e-05
|
|
|
strabismus, susceptibility to
|
[NCBI]
|
1.90563e-05
|
|
|
pseudohyperkalemia, familial, 1, due to red cell leak
|
[NCBI]
|
1.90563e-05
|
|
|
ACADS
|
[NCBI]
|
1.90051e-05
|
|
|
OMP
|
[NCBI]
|
1.90051e-05
|
|
|
SLC3A1
|
[NCBI]
|
1.90051e-05
|
|
|
F3
|
[NCBI]
|
1.84929e-05
|
|
|
TPO
|
[NCBI]
|
1.83212e-05
|
|
|
BMP2
|
[NCBI]
|
1.83029e-05
|
|
|
IL2
|
[NCBI]
|
1.79882e-05
|
|
|
thrombasthenia of glanzmann and naegeli
|
[NCBI]
|
1.78464e-05
|
|
|
CLCN3
|
[NCBI]
|
1.78335e-05
|
|
|
CSF2RA
|
[NCBI]
|
1.78335e-05
|
|
|
EN1
|
[NCBI]
|
1.78335e-05
|
|
|
PMX1
|
[NCBI]
|
1.78335e-05
|
|
|
PDC
|
[NCBI]
|
1.78335e-05
|
|
|
STRC
|
[NCBI]
|
1.78335e-05
|
|
|
MLLT7
|
[NCBI]
|
1.78335e-05
|
|
|
CYLD1
|
[NCBI]
|
1.78335e-05
|
|
|
PFN1
|
[NCBI]
|
1.78335e-05
|
|
|
CHRND
|
[NCBI]
|
1.78335e-05
|
|
|
CENPC1
|
[NCBI]
|
1.78335e-05
|
|
|
KLK5
|
[NCBI]
|
1.78335e-05
|
|
|
SEPT5
|
[NCBI]
|
1.78335e-05
|
|
|
CD244
|
[NCBI]
|
1.78335e-05
|
|
|
JARID1C
|
[NCBI]
|
1.78335e-05
|
|
|
CCS
|
[NCBI]
|
1.78335e-05
|
|
|
neuroblastoma stage 4s gene
|
[NCBI]
|
1.78335e-05
|
|
|
GJB4
|
[NCBI]
|
1.78335e-05
|
|
|
HOXD3
|
[NCBI]
|
1.78335e-05
|
|
|
S100A9
|
[NCBI]
|
1.78335e-05
|
|
|
ACTB
|
[NCBI]
|
1.78335e-05
|
|
|
SOS1
|
[NCBI]
|
1.78335e-05
|
|
|
TTP
|
[NCBI]
|
1.77891e-05
|
|
|
AEZ
|
[NCBI]
|
1.77891e-05
|
|
|
infantile spasm syndrome, x-linked
|
[NCBI]
|
1.77252e-05
|
|
|
TCOF
|
[NCBI]
|
1.76987e-05
|
|
|
KRT14
|
[NCBI]
|
1.76354e-05
|
|
|
xx male syndrome
|
[NCBI]
|
1.74341e-05
|
|
|
bartter syndrome, infantile, with sensorineural deafness
|
[NCBI]
|
1.74341e-05
|
|
|
DYT12
|
[NCBI]
|
1.74341e-05
|
|
|
AEXS
|
[NCBI]
|
1.74341e-05
|
|
|
MFS2
|
[NCBI]
|
1.74341e-05
|
|
|
AOII
|
[NCBI]
|
1.74341e-05
|
|
|
metaphyseal chondrodysplasia, jansen type
|
[NCBI]
|
1.74341e-05
|
|
|
NPHP3
|
[NCBI]
|
1.74341e-05
|
|
|
HHF1
|
[NCBI]
|
1.67328e-05
|
|
|
HSCR1
|
[NCBI]
|
1.65054e-05
|
|
|
LNS
|
[NCBI]
|
1.64043e-05
|
|
|
EPHX1
|
[NCBI]
|
1.63935e-05
|
|
|
MSH6
|
[NCBI]
|
1.63935e-05
|
|
|
myoclonic dystonia
|
[NCBI]
|
1.61192e-05
|
|
|
CDH3
|
[NCBI]
|
1.59764e-05
|
|
|
SCN1B
|
[NCBI]
|
1.59764e-05
|
|
|
NPHP3
|
[NCBI]
|
1.59764e-05
|
|
|
EDAR
|
[NCBI]
|
1.59764e-05
|
|
|
CASP10
|
[NCBI]
|
1.59764e-05
|
|
|
NIPA1
|
[NCBI]
|
1.59764e-05
|
|
|
ICSBP1
|
[NCBI]
|
1.59764e-05
|
|
|
PAK2
|
[NCBI]
|
1.59764e-05
|
|
|
DTNA
|
[NCBI]
|
1.59764e-05
|
|
|
LDB3
|
[NCBI]
|
1.59764e-05
|
|
|
TK2
|
[NCBI]
|
1.59764e-05
|
|
|
SBF2
|
[NCBI]
|
1.59764e-05
|
|
|
MFRP
|
[NCBI]
|
1.59764e-05
|
|
|
MPV17
|
[NCBI]
|
1.59764e-05
|
|
|
PEG10
|
[NCBI]
|
1.59764e-05
|
|
|
DGCR14
|
[NCBI]
|
1.59764e-05
|
|
|
TOP3A
|
[NCBI]
|
1.59764e-05
|
|
|
HAX1
|
[NCBI]
|
1.59764e-05
|
|
|
ERBB3
|
[NCBI]
|
1.59764e-05
|
|
|
GPR98
|
[NCBI]
|
1.59764e-05
|
|
|
TBX22
|
[NCBI]
|
1.59764e-05
|
|
|
LGR8
|
[NCBI]
|
1.59764e-05
|
|
|
COL9A1
|
[NCBI]
|
1.59764e-05
|
|
|
TEK
|
[NCBI]
|
1.59764e-05
|
|
|
myofibrillogenesis regulator 1
|
[NCBI]
|
1.59764e-05
|
|
|
meningioma, familial
|
[NCBI]
|
1.59377e-05
|
|
|
PAX3
|
[NCBI]
|
1.58641e-05
|
|
|
CYLD
|
[NCBI]
|
1.58386e-05
|
|
|
ED2
|
[NCBI]
|
1.58386e-05
|
|
|
FRAP1
|
[NCBI]
|
1.58198e-05
|
|
|
oca2 gene
|
[NCBI]
|
1.58146e-05
|
|
|
IKBKG
|
[NCBI]
|
1.58146e-05
|
|
|
EDNRB
|
[NCBI]
|
1.52612e-05
|
|
|
SHH
|
[NCBI]
|
1.52364e-05
|
|
|
ATS
|
[NCBI]
|
1.51512e-05
|
|
|
NPPA
|
[NCBI]
|
1.51249e-05
|
|
|
XLP1
|
[NCBI]
|
1.4962e-05
|
|
|
hyperglycerolemia
|
[NCBI]
|
1.49132e-05
|
|
|
LS
|
[NCBI]
|
1.48554e-05
|
|
|
legg-calve-perthes disease
|
[NCBI]
|
1.47605e-05
|
|
|
DFNB9
|
[NCBI]
|
1.47605e-05
|
|
|
BDA1
|
[NCBI]
|
1.47605e-05
|
|
|
hyperostosis corticalis generalisata, benign form of worth, with torus palatinus
|
[NCBI]
|
1.47605e-05
|
|
|
craniofacial dyssynostosis with short stature
|
[NCBI]
|
1.46579e-05
|
|
|
osteogenesis imperfecta, type iib
|
[NCBI]
|
1.46579e-05
|
|
|
humeroradial synostosis
|
[NCBI]
|
1.46579e-05
|
|
|
alopecia-contractures-dwarfism mental retardation syndrome
|
[NCBI]
|
1.46579e-05
|
|
|
ichthyosis and male hypogonadism
|
[NCBI]
|
1.46579e-05
|
|
|
brachial amelia, forebrain defects, and facial clefts
|
[NCBI]
|
1.46579e-05
|
|
|
rhizomelic dysplasia, patterson-lowry type
|
[NCBI]
|
1.46579e-05
|
|
|
muscular dystrophy, congenital, with severe central nervous system atrophy and absence of large myelinated fibers
|
[NCBI]
|
1.46579e-05
|
|
|
urticaria, aquagenic
|
[NCBI]
|
1.46579e-05
|
|
|
neuropathy, ataxia, and retinitis pigmentosa
|
[NCBI]
|
1.46579e-05
|
|
|
xeroderma pigmentosum ix
|
[NCBI]
|
1.46579e-05
|
|
|
epstein-barr virus, susceptibility to chronic infection by
|
[NCBI]
|
1.46579e-05
|
|
|
KPC
|
[NCBI]
|
1.46579e-05
|
|
|
infertile male syndrome
|
[NCBI]
|
1.46579e-05
|
|
|
keloids
|
[NCBI]
|
1.46579e-05
|
|
|
spondylometaepiphyseal dysplasia, short limb-hand type
|
[NCBI]
|
1.46579e-05
|
|
|
AI1G
|
[NCBI]
|
1.46579e-05
|
|
|
pheochromocytoma--islet cell tumor syndrome
|
[NCBI]
|
1.46579e-05
|
|
|
band heterotopia of brain
|
[NCBI]
|
1.46579e-05
|
|
|
GEPD
|
[NCBI]
|
1.46579e-05
|
|
|
macrocephaly
|
[NCBI]
|
1.46579e-05
|
|
|
atrial tachyarrhythmia with short pr interval
|
[NCBI]
|
1.46579e-05
|
|
|
muscular dystrophy, hemizygous lethal type
|
[NCBI]
|
1.46579e-05
|
|
|
cerebellar ataxia and ectodermal dysplasia
|
[NCBI]
|
1.46579e-05
|
|
|
osteochondrosis deformans tibiae, familial infantile type
|
[NCBI]
|
1.46579e-05
|
|
|
CMD1J
|
[NCBI]
|
1.46579e-05
|
|
|
fibular hypoplasia and complex brachydactyly
|
[NCBI]
|
1.46579e-05
|
|
|
acrocephalopolysyndactyly type iv
|
[NCBI]
|
1.46579e-05
|
|
|
diaphragmatic hernia 3
|
[NCBI]
|
1.46579e-05
|
|
|
melanoma, malignant familial intraocular
|
[NCBI]
|
1.46579e-05
|
|
|
spondylocostal dysostosis with anal atresia and urogenital anomalies
|
[NCBI]
|
1.46579e-05
|
|
|
MCOP3
|
[NCBI]
|
1.46579e-05
|
|
|
parkinson-dementia syndrome
|
[NCBI]
|
1.46579e-05
|
|
|
nevus, keratinocytic, nonepidermolytic
|
[NCBI]
|
1.46579e-05
|
|
|
paine syndrome
|
[NCBI]
|
1.46579e-05
|
|
|
atkin-flaitz syndrome
|
[NCBI]
|
1.46579e-05
|
|
|
corpus callosum, partial agenesis of, x-linked
|
[NCBI]
|
1.46579e-05
|
|
|
brunner syndrome
|
[NCBI]
|
1.46579e-05
|
|
|
MCOPS5
|
[NCBI]
|
1.46579e-05
|
|
|
diabetes mellitus, permanent neonatal, with cerebellar agenesis
|
[NCBI]
|
1.46579e-05
|
|
|
hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy
|
[NCBI]
|
1.46579e-05
|
|
|
alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism
|
[NCBI]
|
1.46579e-05
|
|
|
pacman dysplasia
|
[NCBI]
|
1.46579e-05
|
|
|
advanced sleep-phase syndrome, familial
|
[NCBI]
|
1.46579e-05
|
|
|
hyperimmunoglobulin g1(a1) syndrome
|
[NCBI]
|
1.46579e-05
|
|
|
mental retardation, x-linked, snyder-robinson type
|
[NCBI]
|
1.46579e-05
|
|
|
brugada syndrome 2
|
[NCBI]
|
1.46579e-05
|
|
|
basal cell carcinoma, multiple
|
[NCBI]
|
1.46579e-05
|
|
|
deafness, sensorineural, and male infertility
|
[NCBI]
|
1.46579e-05
|
|
|
myopathy, congenital nonprogressive, with moebius sequence and robin sequence
|
[NCBI]
|
1.46579e-05
|
|
|
mandibulofacial dysostosis, treacher collins type, autosomal recessive
|
[NCBI]
|
1.46579e-05
|
|
|
NS4
|
[NCBI]
|
1.46579e-05
|
|
|
BOS3
|
[NCBI]
|
1.46579e-05
|
|
|
chorea, benign familial
|
[NCBI]
|
1.46579e-05
|
|
|
DDU
|
[NCBI]
|
1.46579e-05
|
|
|
SOD2
|
[NCBI]
|
1.45186e-05
|
|
|
ABCD1
|
[NCBI]
|
1.45012e-05
|
|
|
SIL1
|
[NCBI]
|
1.44564e-05
|
|
|
ZMPSTE24
|
[NCBI]
|
1.44564e-05
|
|
|
TYROBP
|
[NCBI]
|
1.44564e-05
|
|
|
PHKA1
|
[NCBI]
|
1.44564e-05
|
|
|
ARHGEF6
|
[NCBI]
|
1.44564e-05
|
|
|
CLCNKB
|
[NCBI]
|
1.44564e-05
|
|
|
chromosome 17q21.31 microdeletion syndrome
|
[NCBI]
|
1.44564e-05
|
|
|
ATP2A1
|
[NCBI]
|
1.44564e-05
|
|
|
CDC42
|
[NCBI]
|
1.44564e-05
|
|
|
DCLRE1C
|
[NCBI]
|
1.44564e-05
|
|
|
GLI
|
[NCBI]
|
1.44564e-05
|
|
|
FMOD
|
[NCBI]
|
1.44564e-05
|
|
|
TFAP2A
|
[NCBI]
|
1.44564e-05
|
|
|
NR2E3
|
[NCBI]
|
1.44564e-05
|
|
|
WNT7A
|
[NCBI]
|
1.44564e-05
|
|
|
PON2
|
[NCBI]
|
1.44564e-05
|
|
|
TFAP2C
|
[NCBI]
|
1.44564e-05
|
|
|
ACY1
|
[NCBI]
|
1.44564e-05
|
|
|
bullous erythroderma ichthyosiformis congenita of brocq
|
[NCBI]
|
1.44218e-05
|
|
|
TTR
|
[NCBI]
|
1.44039e-05
|
|
|
IBGC1
|
[NCBI]
|
1.42742e-05
|
|
|
immunoosseous dysplasia, schimke type
|
[NCBI]
|
1.41324e-05
|
|
|
ALAD
|
[NCBI]
|
1.37369e-05
|
|
|
CGD
|
[NCBI]
|
1.3708e-05
|
|
|
GSR
|
[NCBI]
|
1.32694e-05
|
|
|
MTRNR1
|
[NCBI]
|
1.32694e-05
|
|
|
ATM
|
[NCBI]
|
1.3255e-05
|
|
|
SLC17A7
|
[NCBI]
|
1.3176e-05
|
|
|
BMP7
|
[NCBI]
|
1.3176e-05
|
|
|
FACL4
|
[NCBI]
|
1.3176e-05
|
|
|
MAP2K1
|
[NCBI]
|
1.3176e-05
|
|
|
HOXA1
|
[NCBI]
|
1.3176e-05
|
|
|
CLDN16
|
[NCBI]
|
1.3176e-05
|
|
|
PEX6
|
[NCBI]
|
1.3176e-05
|
|
|
ERCC4
|
[NCBI]
|
1.3176e-05
|
|
|
TRAF2
|
[NCBI]
|
1.3176e-05
|
|
|
WNT1
|
[NCBI]
|
1.3176e-05
|
|
|
EVI1
|
[NCBI]
|
1.3176e-05
|
|
|
LAMA3
|
[NCBI]
|
1.3176e-05
|
|
|
MTTE
|
[NCBI]
|
1.3176e-05
|
|
|
MEG3
|
[NCBI]
|
1.3176e-05
|
|
|
VRCP
|
[NCBI]
|
1.30287e-05
|
|
|
SGM1
|
[NCBI]
|
1.30287e-05
|
|
|
oculodentoosseous dysplasia, recessive
|
[NCBI]
|
1.30287e-05
|
|
|
MPD2
|
[NCBI]
|
1.30287e-05
|
|
|
ICCA
|
[NCBI]
|
1.30287e-05
|
|
|
HFA
|
[NCBI]
|
1.30287e-05
|
|
|
costovertebral segmentation anomalies
|
[NCBI]
|
1.30287e-05
|
|
|
brachydactyly-mental retardation syndrome
|
[NCBI]
|
1.30287e-05
|
|
|
MCOPS4
|
[NCBI]
|
1.30287e-05
|
|
|
dandy-walker malformation with mental retardation, basal ganglia disease, and seizures
|
[NCBI]
|
1.30287e-05
|
|
|
focal facial dermal dysplasia
|
[NCBI]
|
1.30287e-05
|
|
|
candidiasis, familial chronic mucocutaneous, autosomal recessive
|
[NCBI]
|
1.30287e-05
|
|
|
DFNB15
|
[NCBI]
|
1.30287e-05
|
|
|
woolly hair, autosomal dominant
|
[NCBI]
|
1.30287e-05
|
|
|
spondylometaphyseal dysplasia, kozlowski type
|
[NCBI]
|
1.30287e-05
|
|
|
basal ganglia calcification, idiopathic, 2
|
[NCBI]
|
1.30287e-05
|
|
|
FPLD1
|
[NCBI]
|
1.30287e-05
|
|
|
spinal muscular atrophy, facioscapulohumeral type
|
[NCBI]
|
1.30287e-05
|
|
|
adducted thumb-clubfoot syndrome
|
[NCBI]
|
1.30287e-05
|
|
|
MYP1
|
[NCBI]
|
1.30287e-05
|
|
|
DSMA3
|
[NCBI]
|
1.30287e-05
|
|
|
microtia with meatal atresia and conductive deafness
|
[NCBI]
|
1.30103e-05
|
|
|
IDUA
|
[NCBI]
|
1.29628e-05
|
|
|
LFS1
|
[NCBI]
|
1.2838e-05
|
|
|
SOD1
|
[NCBI]
|
1.27149e-05
|
|
|
AN2
|
[NCBI]
|
1.26093e-05
|
|
|
CIPA
|
[NCBI]
|
1.25865e-05
|
|
|
SCZD
|
[NCBI]
|
1.25129e-05
|
|
|
sertoli cell-only syndrome, y-linked
|
[NCBI]
|
1.24947e-05
|
|
|
SCN3
|
[NCBI]
|
1.24947e-05
|
|
|
EV
|
[NCBI]
|
1.23911e-05
|
|
|
DES
|
[NCBI]
|
1.23883e-05
|
|
|
MBL2
|
[NCBI]
|
1.23004e-05
|
|
|
cystinuria
|
[NCBI]
|
1.20996e-05
|
|
|
RHCE
|
[NCBI]
|
1.20747e-05
|
|
|
SN
|
[NCBI]
|
1.20747e-05
|
|
|
MCPH1
|
[NCBI]
|
1.20747e-05
|
|
|
RASSF1
|
[NCBI]
|
1.20747e-05
|
|
|
PVRL1
|
[NCBI]
|
1.20747e-05
|
|
|
PEX12
|
[NCBI]
|
1.20747e-05
|
|
|
GDI1
|
[NCBI]
|
1.20747e-05
|
|
|
GALR1
|
[NCBI]
|
1.20747e-05
|
|
|
PLAU
|
[NCBI]
|
1.20747e-05
|
|
|
CBL
|
[NCBI]
|
1.20747e-05
|
|
|
GALNT3
|
[NCBI]
|
1.20747e-05
|
|
|
OPHN1
|
[NCBI]
|
1.20747e-05
|
|
|
COL4A1
|
[NCBI]
|
1.20747e-05
|
|
|
HTLVR
|
[NCBI]
|
1.20747e-05
|
|
|
RAB7
|
[NCBI]
|
1.20747e-05
|
|
|
LARGE
|
[NCBI]
|
1.20747e-05
|
|
|
CALCR
|
[NCBI]
|
1.20747e-05
|
|
|
HSD17B4
|
[NCBI]
|
1.20747e-05
|
|
|
MAPK7
|
[NCBI]
|
1.20747e-05
|
|
|
POMGNT1
|
[NCBI]
|
1.20747e-05
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
1.18943e-05
|
|
|
HHF2
|
[NCBI]
|
1.18943e-05
|
|
|
SMEI
|
[NCBI]
|
1.18646e-05
|
|
|
PCD
|
[NCBI]
|
1.17864e-05
|
|
|
WDM
|
[NCBI]
|
1.16532e-05
|
|
|
neutrophilic dermatosis, acute febrile
|
[NCBI]
|
1.16532e-05
|
|
|
ENG
|
[NCBI]
|
1.15722e-05
|
|
|
POAG
|
[NCBI]
|
1.13627e-05
|
|
|
SPDA1
|
[NCBI]
|
1.13627e-05
|
|
|
GNRH1
|
[NCBI]
|
1.12192e-05
|
|
|
POLG
|
[NCBI]
|
1.11864e-05
|
|
|
BRAF
|
[NCBI]
|
1.11864e-05
|
|
|
CMDD
|
[NCBI]
|
1.11838e-05
|
|
|
cutis laxa, autosomal recessive, type i
|
[NCBI]
|
1.11838e-05
|
|
|
BCR
|
[NCBI]
|
1.11752e-05
|
|
|
LDLR
|
[NCBI]
|
1.11752e-05
|
|
|
DNAH11
|
[NCBI]
|
1.11125e-05
|
|
|
SETX
|
[NCBI]
|
1.11125e-05
|
|
|
LAMP2
|
[NCBI]
|
1.11125e-05
|
|
|
ZIC3
|
[NCBI]
|
1.11125e-05
|
|
|
PXMP3
|
[NCBI]
|
1.11125e-05
|
|
|
BSCL2
|
[NCBI]
|
1.11125e-05
|
|
|
PHYH
|
[NCBI]
|
1.11125e-05
|
|
|
DCTN1
|
[NCBI]
|
1.11125e-05
|
|
|
SCNN1A
|
[NCBI]
|
1.11125e-05
|
|
|
PAK3
|
[NCBI]
|
1.11125e-05
|
|
|
MTTI
|
[NCBI]
|
1.11125e-05
|
|
|
EYA4
|
[NCBI]
|
1.11125e-05
|
|
|
LGMD2A
|
[NCBI]
|
1.06375e-05
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
1.06375e-05
|
|
|
GHRH
|
[NCBI]
|
1.05711e-05
|
|
|
MRXS13
|
[NCBI]
|
1.05581e-05
|
|
|
hyperostosis corticalis generalisata
|
[NCBI]
|
1.05581e-05
|
|
|
WS3
|
[NCBI]
|
1.05581e-05
|
|
|
PPD2
|
[NCBI]
|
1.05581e-05
|
|
|
STAT3
|
[NCBI]
|
1.04712e-05
|
|
|
hypogonadism, male
|
[NCBI]
|
1.03126e-05
|
|
|
PCWH
|
[NCBI]
|
1.03126e-05
|
|
|
carbimazole sensitivity
|
[NCBI]
|
1.03126e-05
|
|
|
fryns microphthalmia syndrome
|
[NCBI]
|
1.03126e-05
|
|
|
haw river syndrome
|
[NCBI]
|
1.03126e-05
|
|
|
LIS2
|
[NCBI]
|
1.03126e-05
|
|
|
metachondromatosis
|
[NCBI]
|
1.03126e-05
|
|
|
dyskeratosis congenita, autosomal recessive
|
[NCBI]
|
1.03126e-05
|
|
|
choroideremia with deafness and obesity
|
[NCBI]
|
1.03126e-05
|
|
|
CFEOM2
|
[NCBI]
|
1.03126e-05
|
|
|
furlong syndrome: fs
|
[NCBI]
|
1.03126e-05
|
|
|
CRS2
|
[NCBI]
|
1.03126e-05
|
|
|
oroacral syndrome, verloes-koulischer type
|
[NCBI]
|
1.03126e-05
|
|
|
gonadal agenesis
|
[NCBI]
|
1.03126e-05
|
|
|
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
|
[NCBI]
|
1.03126e-05
|
|
|
leigh syndrome, x-linked
|
[NCBI]
|
1.03126e-05
|
|
|
nephrotic syndrome, early-onset, with diffuse mesangial sclerosis
|
[NCBI]
|
1.03126e-05
|
|
|
SPG20
|
[NCBI]
|
1.03126e-05
|
|
|
TLPD
|
[NCBI]
|
1.03126e-05
|
|
|
craniosynostosis with ectopia lentis
|
[NCBI]
|
1.03126e-05
|
|
|
gonadal dysgenesis, 46,xy, partial, with minifascicular neuropathy
|
[NCBI]
|
1.03126e-05
|
|
|
monosomy 9p syndrome
|
[NCBI]
|
1.03126e-05
|
|
|
MADB
|
[NCBI]
|
1.03126e-05
|
|
|
DSS
|
[NCBI]
|
1.03126e-05
|
|
|
RP19
|
[NCBI]
|
1.03126e-05
|
|
|
orofacial cleft 5
|
[NCBI]
|
1.03126e-05
|
|
|
mental retardation, x-linked, syndromic, jarid1c-related
|
[NCBI]
|
1.03126e-05
|
|
|
tricuspid atresia
|
[NCBI]
|
1.03126e-05
|
|
|
HPE5
|
[NCBI]
|
1.03126e-05
|
|
|
angiolipomatosis, familial
|
[NCBI]
|
1.03126e-05
|
|
|
DDSH
|
[NCBI]
|
1.03126e-05
|
|
|
trigonocephaly, nonsyndromic
|
[NCBI]
|
1.03126e-05
|
|
|
macrocephaly, benign familial
|
[NCBI]
|
1.03126e-05
|
|
|
acrogeria, gottron type
|
[NCBI]
|
1.03126e-05
|
|
|
sertoli cell-only syndrome
|
[NCBI]
|
1.03126e-05
|
|
|
humerospinal dysostosis
|
[NCBI]
|
1.03126e-05
|
|
|
ankylosing vertebral hyperostosis with tylosis
|
[NCBI]
|
1.03126e-05
|
|
|
HJMD
|
[NCBI]
|
1.03126e-05
|
|
|
osteogenesis imperfecta, type vii
|
[NCBI]
|
1.03126e-05
|
|
|
paroxysmal tonic upgaze, benign childhood, with ataxia
|
[NCBI]
|
1.03126e-05
|
|
|
immunodeficiency with defective leukocyte and lymphocyte function and with response to histamine-1 antagonist
|
[NCBI]
|
1.03126e-05
|
|
|
AME2
|
[NCBI]
|
1.03126e-05
|
|
|
MYO15A
|
[NCBI]
|
1.02613e-05
|
|
|
SLC45A2
|
[NCBI]
|
1.02613e-05
|
|
|
KCNA1
|
[NCBI]
|
1.02613e-05
|
|
|
PNPLA2
|
[NCBI]
|
1.02613e-05
|
|
|
GADD45A
|
[NCBI]
|
1.02613e-05
|
|
|
PITX3
|
[NCBI]
|
1.02613e-05
|
|
|
MSX2
|
[NCBI]
|
1.02613e-05
|
|
|
SRA2
|
[NCBI]
|
1.02613e-05
|
|
|
RAPSN
|
[NCBI]
|
1.02613e-05
|
|
|
INVS
|
[NCBI]
|
1.02613e-05
|
|
|
aHUS
|
[NCBI]
|
1.00958e-05
|
|
|
SCA7
|
[NCBI]
|
1.00958e-05
|
|
|
SMA3
|
[NCBI]
|
9.92438e-06
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
9.77422e-06
|
|
|
SH2D1A
|
[NCBI]
|
9.77422e-06
|
|
|
hla-d histocompatibility type
|
[NCBI]
|
9.58064e-06
|
|
|
hypotrichosis, marie unna type
|
[NCBI]
|
9.55771e-06
|
|
|
hairy elbows
|
[NCBI]
|
9.55771e-06
|
|
|
CLN4A
|
[NCBI]
|
9.55771e-06
|
|
|
fatty metamorphosis of viscera
|
[NCBI]
|
9.55771e-06
|
|
|
DIP
|
[NCBI]
|
9.55771e-06
|
|
|
COL6A2
|
[NCBI]
|
9.50089e-06
|
|
|
DHH
|
[NCBI]
|
9.50089e-06
|
|
|
SCP2
|
[NCBI]
|
9.50089e-06
|
|
|
GHRHR
|
[NCBI]
|
9.50089e-06
|
|
|
FOXP2
|
[NCBI]
|
9.50089e-06
|
|
|
factor x deficiency
|
[NCBI]
|
9.45083e-06
|
|
|
glycogen storage disease iii
|
[NCBI]
|
9.22417e-06
|
|
|
TGD
|
[NCBI]
|
9.22417e-06
|
|
|
COL7A1
|
[NCBI]
|
9.1382e-06
|
|
|
INS
|
[NCBI]
|
9.09356e-06
|
|
|
HNPP
|
[NCBI]
|
8.94798e-06
|
|
|
hyperprolinemia, type i
|
[NCBI]
|
8.89282e-06
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive
|
[NCBI]
|
8.89282e-06
|
|
|
MERRF
|
[NCBI]
|
8.89282e-06
|
|
|
FH
|
[NCBI]
|
8.83585e-06
|
|
|
AP3B1
|
[NCBI]
|
8.81609e-06
|
|
|
complement component 6 deficiency
|
[NCBI]
|
8.81609e-06
|
|
|
CUBN
|
[NCBI]
|
8.81609e-06
|
|
|
S100A8
|
[NCBI]
|
8.81609e-06
|
|
|
KLK7
|
[NCBI]
|
8.81609e-06
|
|
|
LMX1B
|
[NCBI]
|
8.81609e-06
|
|
|
FKTN
|
[NCBI]
|
8.81609e-06
|
|
|
SLC7A9
|
[NCBI]
|
8.81609e-06
|
|
|
GSD
|
[NCBI]
|
8.75262e-06
|
|
|
DHS
|
[NCBI]
|
8.69989e-06
|
|
|
UGT1A1
|
[NCBI]
|
8.54333e-06
|
|
|
MSD
|
[NCBI]
|
8.53761e-06
|
|
|
CDSP
|
[NCBI]
|
8.53761e-06
|
|
|
NRCLP1
|
[NCBI]
|
8.53761e-06
|
|
|
OCRL
|
[NCBI]
|
8.53761e-06
|
|
|
glycogen storage disease vii
|
[NCBI]
|
8.53761e-06
|
|
|
APS1
|
[NCBI]
|
8.53148e-06
|
|
|
FPLD2
|
[NCBI]
|
8.40426e-06
|
|
|
CDLS1
|
[NCBI]
|
8.1977e-06
|
|
|
HLA-DQA1
|
[NCBI]
|
8.19522e-06
|
|
|
GJA5
|
[NCBI]
|
8.19522e-06
|
|
|
SURF1
|
[NCBI]
|
8.19522e-06
|
|
|
ATP1A2
|
[NCBI]
|
8.19522e-06
|
|
|
SGSH
|
[NCBI]
|
8.19522e-06
|
|
|
FED
|
[NCBI]
|
7.70113e-06
|
|
|
TIMP1
|
[NCBI]
|
7.62912e-06
|
|
|
KCNQ2
|
[NCBI]
|
7.62912e-06
|
|
|
CDKN1B
|
[NCBI]
|
7.62912e-06
|
|
|
MRE11A
|
[NCBI]
|
7.62912e-06
|
|
|
KRIT1
|
[NCBI]
|
7.62912e-06
|
|
|
KCNQ1OT1
|
[NCBI]
|
7.62912e-06
|
|
|
HADHA
|
[NCBI]
|
7.62912e-06
|
|
|
F12
|
[NCBI]
|
7.62912e-06
|
|
|
DAG1
|
[NCBI]
|
7.62912e-06
|
|
|
giant platelet syndrome
|
[NCBI]
|
7.61176e-06
|
|
|
MSH2
|
[NCBI]
|
7.46344e-06
|
|
|
mitochondrial dna depletion syndrome, myopathic form
|
[NCBI]
|
7.4551e-06
|
|
|
HMN5
|
[NCBI]
|
7.4551e-06
|
|
|
cortisone reductase deficiency
|
[NCBI]
|
7.37962e-06
|
|
|
hereditary motor and sensory neuropathy vi
|
[NCBI]
|
7.37962e-06
|
|
|
CDD
|
[NCBI]
|
7.37962e-06
|
|
|
osteomesopyknosis
|
[NCBI]
|
7.37962e-06
|
|
|
insulin-like growth factor i, resistance to
|
[NCBI]
|
7.37962e-06
|
|
|
LVNC1
|
[NCBI]
|
7.37962e-06
|
|
|
coats disease
|
[NCBI]
|
7.37962e-06
|
|
|
hypothyroidism, athyroidal, with spiky hair and cleft palate
|
[NCBI]
|
7.37962e-06
|
|
|
DFNB2
|
[NCBI]
|
7.37962e-06
|
|
|
paroxysmal extreme pain disorder
|
[NCBI]
|
7.37962e-06
|
|
|
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
|
[NCBI]
|
7.37962e-06
|
|
|
gastritis, familial giant hypertrophic
|
[NCBI]
|
7.37962e-06
|
|
|
VF
|
[NCBI]
|
7.37962e-06
|
|
|
NPHP4
|
[NCBI]
|
7.37962e-06
|
|
|
SHEP2
|
[NCBI]
|
7.37962e-06
|
|
|
immunodeficiency with hyper-igm, type 3
|
[NCBI]
|
7.37962e-06
|
|
|
splenogonadal fusion with limb defects and micrognathia
|
[NCBI]
|
7.37962e-06
|
|
|
mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance
|
[NCBI]
|
7.37962e-06
|
|
|
pyruvate dehydrogenase phosphatase deficiency
|
[NCBI]
|
7.37962e-06
|
|
|
LVNCX
|
[NCBI]
|
7.37962e-06
|
|
|
spondyloperipheral dysplasia
|
[NCBI]
|
7.37962e-06
|
|
|
EBDSC
|
[NCBI]
|
7.37962e-06
|
|
|
MLRD
|
[NCBI]
|
7.37962e-06
|
|
|
ectrodactyly
|
[NCBI]
|
7.37962e-06
|
|
|
MRX59
|
[NCBI]
|
7.37962e-06
|
|
|
ehlers-danlos syndrome, progeroid form
|
[NCBI]
|
7.37962e-06
|
|
|
DFNB6
|
[NCBI]
|
7.37962e-06
|
|
|
pulmonic stenosis
|
[NCBI]
|
7.37962e-06
|
|
|
bile acid synthesis defect, congenital, 4
|
[NCBI]
|
7.37962e-06
|
|
|
endocardial fibroelastosis
|
[NCBI]
|
7.37962e-06
|
|
|
MCOP2
|
[NCBI]
|
7.37962e-06
|
|
|
AVSD2
|
[NCBI]
|
7.37962e-06
|
|
|
osteogenesis imperfecta, type viii
|
[NCBI]
|
7.37962e-06
|
|
|
melanoma-pancreatic cancer syndrome
|
[NCBI]
|
7.37962e-06
|
|
|
femur-fibula-ulna syndrome
|
[NCBI]
|
7.37962e-06
|
|
|
KCNQ1
|
[NCBI]
|
7.21421e-06
|
|
|
PPSH
|
[NCBI]
|
7.20879e-06
|
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type i
|
[NCBI]
|
7.20879e-06
|
|
|
FHM1
|
[NCBI]
|
7.20879e-06
|
|
|
MADD
|
[NCBI]
|
7.20879e-06
|
|
|
HOXD13
|
[NCBI]
|
7.11048e-06
|
|
|
farber lipogranulomatosis
|
[NCBI]
|
7.11048e-06
|
|
|
GLRA1
|
[NCBI]
|
7.11048e-06
|
|
|
LI1
|
[NCBI]
|
6.78958e-06
|
|
|
DSP
|
[NCBI]
|
6.63334e-06
|
|
|
RP1
|
[NCBI]
|
6.56843e-06
|
|
|
RP3
|
[NCBI]
|
6.56843e-06
|
|
|
MTND4
|
[NCBI]
|
6.51126e-06
|
|
|
ALB
|
[NCBI]
|
6.4263e-06
|
|
|
RPGR
|
[NCBI]
|
6.29094e-06
|
|
|
ADHD
|
[NCBI]
|
6.28123e-06
|
|
|
CFEOM1
|
[NCBI]
|
6.21096e-06
|
|
|
BDC
|
[NCBI]
|
6.21096e-06
|
|
|
ADLTE
|
[NCBI]
|
6.21096e-06
|
|
|
GP1BA
|
[NCBI]
|
6.19281e-06
|
|
|
C4A
|
[NCBI]
|
6.19281e-06
|
|
|
LIF
|
[NCBI]
|
6.19281e-06
|
|
|
VLDLR
|
[NCBI]
|
6.19281e-06
|
|
|
GPI
|
[NCBI]
|
6.127e-06
|
|
|
vitamin d-dependent rickets, type ii
|
[NCBI]
|
6.07517e-06
|
|
|
citrullinemia, classic
|
[NCBI]
|
5.94552e-06
|
|
|
CCAL2
|
[NCBI]
|
5.94552e-06
|
|
|
EBR1
|
[NCBI]
|
5.94552e-06
|
|
|
AVSD
|
[NCBI]
|
5.88815e-06
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
5.88815e-06
|
|
|
MHS1
|
[NCBI]
|
5.81018e-06
|
|
|
schimmelpenning-feuerstein-mims syndrome
|
[NCBI]
|
5.79569e-06
|
|
|
mohr syndrome
|
[NCBI]
|
5.79569e-06
|
|
|
CDK6
|
[NCBI]
|
5.78483e-06
|
|
|
LBR
|
[NCBI]
|
5.78483e-06
|
|
|
IL1B
|
[NCBI]
|
5.40595e-06
|
|
|
RPS19
|
[NCBI]
|
5.40595e-06
|
|
|
PRKAR1A
|
[NCBI]
|
5.40595e-06
|
|
|
CLCN5
|
[NCBI]
|
5.40595e-06
|
|
|
PI
|
[NCBI]
|
5.40185e-06
|
|
|
PDB
|
[NCBI]
|
5.34127e-06
|
|
|
pulmonary fibrosis, idiopathic
|
[NCBI]
|
5.34127e-06
|
|
|
alzheimer disease 3
|
[NCBI]
|
5.34127e-06
|
|
|
sialuria, finnish type
|
[NCBI]
|
5.34127e-06
|
|
|
central core disease of muscle
|
[NCBI]
|
5.34127e-06
|
|
|
DJS
|
[NCBI]
|
5.30568e-06
|
|
|
KRAS
|
[NCBI]
|
5.28352e-06
|
|
|
chromosome 18p deletion syndrome
|
[NCBI]
|
5.27856e-06
|
|
|
steatocystoma multiplex
|
[NCBI]
|
5.27856e-06
|
|
|
bartter syndrome, antenatal, type 1
|
[NCBI]
|
5.27856e-06
|
|
|
vohwinkel syndrome, variant form
|
[NCBI]
|
5.27856e-06
|
|
|
encephalopathy, ethylmalonic
|
[NCBI]
|
5.27856e-06
|
|
|
tibial hemimelia
|
[NCBI]
|
5.27856e-06
|
|
|
MRXSL
|
[NCBI]
|
5.27856e-06
|
|
|
pseudohermaphroditism, incomplete male, type i
|
[NCBI]
|
5.27856e-06
|
|
|
ARVD2
|
[NCBI]
|
5.27856e-06
|
|
|
dystonia, familial, with visual failure and striatal lucencies
|
[NCBI]
|
5.27856e-06
|
|
|
hypogammaglobulinemia and isolated growth hormone deficiency, x-linked
|
[NCBI]
|
5.27856e-06
|
|
|
LCA2
|
[NCBI]
|
5.27856e-06
|
|
|
hyalinosis, infantile systemic
|
[NCBI]
|
5.27856e-06
|
|
|
segawa syndrome, autosomal recessive
|
[NCBI]
|
5.27856e-06
|
|
|
ceroid lipofuscinosis, neuronal, 8, northern epilepsy variant
|
[NCBI]
|
5.27856e-06
|
|
|
DPR
|
[NCBI]
|
5.27856e-06
|
|
|
syndactyly, type iii
|
[NCBI]
|
5.27856e-06
|
|
|
peters anomaly
|
[NCBI]
|
5.27856e-06
|
|
|
fibromatosis, gingival, with hypertrichosis
|
[NCBI]
|
5.27856e-06
|
|
|
isotretinoin embryopathy-like syndrome
|
[NCBI]
|
5.27856e-06
|
|
|
muscle glycogenosis, x-linked
|
[NCBI]
|
5.27856e-06
|
|
|
ectodermal dysplasia/skin fragility syndrome
|
[NCBI]
|
5.27856e-06
|
|
|
oncocytoma
|
[NCBI]
|
5.27856e-06
|
|
|
gracile bone dysplasia
|
[NCBI]
|
5.27856e-06
|
|
|
SPD1
|
[NCBI]
|
5.13353e-06
|
|
|
dent disease 1
|
[NCBI]
|
5.13353e-06
|
|
|
NFNS
|
[NCBI]
|
5.13353e-06
|
|
|
PF4
|
[NCBI]
|
5.05686e-06
|
|
|
PEPD
|
[NCBI]
|
5.05327e-06
|
|
|
MYCN
|
[NCBI]
|
5.05327e-06
|
|
|
TNFSF13B
|
[NCBI]
|
5.05327e-06
|
|
|
ADAMTS13
|
[NCBI]
|
5.05327e-06
|
|
|
CRMO
|
[NCBI]
|
4.9024e-06
|
|
|
hypertension, essential
|
[NCBI]
|
4.9024e-06
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
4.81762e-06
|
|
|
OPTB1
|
[NCBI]
|
4.75701e-06
|
|
|
biotinidase deficiency
|
[NCBI]
|
4.75701e-06
|
|
|
AK1
|
[NCBI]
|
4.72429e-06
|
|
|
PTPN11
|
[NCBI]
|
4.72429e-06
|
|
|
AKR1B1
|
[NCBI]
|
4.67972e-06
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
4.41685e-06
|
|
|
CDKN1A
|
[NCBI]
|
4.41685e-06
|
|
|
PLOD1
|
[NCBI]
|
4.41685e-06
|
|
|
H19
|
[NCBI]
|
4.41685e-06
|
|
|
PTHR1
|
[NCBI]
|
4.41685e-06
|
|
|
GATA1
|
[NCBI]
|
4.41685e-06
|
|
|
lecithin:cholesterol acyltransferase deficiency
|
[NCBI]
|
4.38509e-06
|
|
|
OFD1
|
[NCBI]
|
4.38509e-06
|
|
|
DRD
|
[NCBI]
|
4.38509e-06
|
|
|
SRY
|
[NCBI]
|
4.25569e-06
|
|
|
myasthenic syndrome, congenital, associated with episodic apnea
|
[NCBI]
|
4.20117e-06
|
|
|
autoimmune disease
|
[NCBI]
|
4.20117e-06
|
|
|
phosphoribosylpyrophosphate synthetase superactivity
|
[NCBI]
|
4.20117e-06
|
|
|
hurler-scheie syndrome
|
[NCBI]
|
4.20117e-06
|
|
|
KCNH2
|
[NCBI]
|
4.17252e-06
|
|
|
GRA
|
[NCBI]
|
4.1322e-06
|
|
|
SDHD
|
[NCBI]
|
4.12908e-06
|
|
|
PEMT
|
[NCBI]
|
4.12908e-06
|
|
|
SMAX1
|
[NCBI]
|
4.11338e-06
|
|
|
apc gene
|
[NCBI]
|
4.03697e-06
|
|
|
CNTF
|
[NCBI]
|
3.96872e-06
|
|
|
XPA
|
[NCBI]
|
3.95431e-06
|
|
|
ACVRL1
|
[NCBI]
|
3.85933e-06
|
|
|
RUNX2
|
[NCBI]
|
3.85933e-06
|
|
|
SMAD4
|
[NCBI]
|
3.85933e-06
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
3.80337e-06
|
|
|
DM2
|
[NCBI]
|
3.80337e-06
|
|
|
STGD1
|
[NCBI]
|
3.74479e-06
|
|
|
MEN1
|
[NCBI]
|
3.73524e-06
|
|
|
whim syndrome
|
[NCBI]
|
3.72718e-06
|
|
|
SANDO
|
[NCBI]
|
3.72718e-06
|
|
|
xeroderma pigmentosum, complementation group e
|
[NCBI]
|
3.72718e-06
|
|
|
hydroxyacyl-coa dehydrogenase ii deficiency
|
[NCBI]
|
3.72718e-06
|
|
|
musical perfect pitch
|
[NCBI]
|
3.72718e-06
|
|
|
CSNB1B
|
[NCBI]
|
3.72718e-06
|
|
|
congenital disorder of glycosylation, type i/iix
|
[NCBI]
|
3.72718e-06
|
|
|
foveal hypoplasia and presenile cataract syndrome
|
[NCBI]
|
3.72718e-06
|
|
|
VMCM
|
[NCBI]
|
3.72718e-06
|
|
|
gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
|
[NCBI]
|
3.72718e-06
|
|
|
NN
|
[NCBI]
|
3.72718e-06
|
|
|
EAD
|
[NCBI]
|
3.72718e-06
|
|
|
VWM
|
[NCBI]
|
3.65456e-06
|
|
|
PHA
|
[NCBI]
|
3.65456e-06
|
|
|
PSNP1
|
[NCBI]
|
3.65456e-06
|
|
|
PLG
|
[NCBI]
|
3.57324e-06
|
|
|
POMC
|
[NCBI]
|
3.53936e-06
|
|
|
PGL1
|
[NCBI]
|
3.53644e-06
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
3.53644e-06
|
|
|
ARPKD
|
[NCBI]
|
3.41355e-06
|
|
|
tibial muscular dystrophy, tardive
|
[NCBI]
|
3.39622e-06
|
|
|
amyloidosis v
|
[NCBI]
|
3.39622e-06
|
|
|
waardenburg-shah syndrome
|
[NCBI]
|
3.39622e-06
|
|
|
pycnodysostosis
|
[NCBI]
|
3.39622e-06
|
|
|
ERCC5
|
[NCBI]
|
3.36831e-06
|
|
|
XPC
|
[NCBI]
|
3.36831e-06
|
|
|
GDF5
|
[NCBI]
|
3.36831e-06
|
|
|
KCNJ11
|
[NCBI]
|
3.36831e-06
|
|
|
NPHP1
|
[NCBI]
|
3.16905e-06
|
|
|
CSF2
|
[NCBI]
|
3.14462e-06
|
|
|
FKRP
|
[NCBI]
|
3.14462e-06
|
|
|
GCH1
|
[NCBI]
|
3.14462e-06
|
|
|
BTC
|
[NCBI]
|
3.14462e-06
|
|
|
TFPI
|
[NCBI]
|
3.14019e-06
|
|
|
refsum disease
|
[NCBI]
|
3.13986e-06
|
|
|
canavan disease
|
[NCBI]
|
3.13986e-06
|
|
|
GAN1
|
[NCBI]
|
3.13986e-06
|
|
|
niemann-pick disease, type b
|
[NCBI]
|
3.13986e-06
|
|
|
PFHB1A
|
[NCBI]
|
3.13986e-06
|
|
|
crigler-najjar syndrome
|
[NCBI]
|
3.13986e-06
|
|
|
lipoid proteinosis of urbach and wiethe
|
[NCBI]
|
3.13986e-06
|
|
|
OCA1A
|
[NCBI]
|
3.13612e-06
|
|
|
AR
|
[NCBI]
|
3.11793e-06
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
3.07464e-06
|
|
|
PPOX
|
[NCBI]
|
2.93409e-06
|
|
|
CAV3
|
[NCBI]
|
2.93409e-06
|
|
|
APRT
|
[NCBI]
|
2.91035e-06
|
|
|
red cell phospholipid defect with hemolysis
|
[NCBI]
|
2.89573e-06
|
|
|
RNANC
|
[NCBI]
|
2.89573e-06
|
|
|
ECA1
|
[NCBI]
|
2.89573e-06
|
|
|
candidiasis, familial chronic mucocutaneous, autosomal dominant
|
[NCBI]
|
2.89573e-06
|
|
|
convulsions, benign familial infantile, 1
|
[NCBI]
|
2.89573e-06
|
|
|
SHFM2
|
[NCBI]
|
2.89573e-06
|
|
|
PHP
|
[NCBI]
|
2.89573e-06
|
|
|
d-glyceric acidemia
|
[NCBI]
|
2.89573e-06
|
|
|
CLN4B
|
[NCBI]
|
2.89573e-06
|
|
|
HBD
|
[NCBI]
|
2.89573e-06
|
|
|
glaucoma-related pigment dispersion syndrome
|
[NCBI]
|
2.83444e-06
|
|
|
MVP
|
[NCBI]
|
2.771e-06
|
|
|
HBA1
|
[NCBI]
|
2.76882e-06
|
|
|
HHC1
|
[NCBI]
|
2.75422e-06
|
|
|
NPC1
|
[NCBI]
|
2.73581e-06
|
|
|
CAPN3
|
[NCBI]
|
2.73581e-06
|
|
|
BHC
|
[NCBI]
|
2.70405e-06
|
|
|
HNA
|
[NCBI]
|
2.65222e-06
|
|
|
NPHS1
|
[NCBI]
|
2.65222e-06
|
|
|
pancreatic carcinoma
|
[NCBI]
|
2.65222e-06
|
|
|
CPX
|
[NCBI]
|
2.65222e-06
|
|
|
MAS
|
[NCBI]
|
2.5898e-06
|
|
|
hypospadias, autosomal
|
[NCBI]
|
2.56648e-06
|
|
|
FCDT
|
[NCBI]
|
2.56648e-06
|
|
|
gout, hprt-related
|
[NCBI]
|
2.56648e-06
|
|
|
gastroschisis
|
[NCBI]
|
2.56648e-06
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
2.56648e-06
|
|
|
gaucher disease, type iiic
|
[NCBI]
|
2.56648e-06
|
|
|
bietti crystalline corneoretinal dystrophy
|
[NCBI]
|
2.56648e-06
|
|
|
PBC
|
[NCBI]
|
2.56648e-06
|
|
|
ectodermal dysplasia, hypohidrotic, with immune deficiency
|
[NCBI]
|
2.56648e-06
|
|
|
AN1
|
[NCBI]
|
2.56648e-06
|
|
|
murcs association
|
[NCBI]
|
2.56648e-06
|
|
|
CPVT
|
[NCBI]
|
2.56648e-06
|
|
|
carnitine palmitoyltransferase ii deficiency, lethal neonatal
|
[NCBI]
|
2.56648e-06
|
|
|
polydactyly, postaxial, type a1
|
[NCBI]
|
2.56648e-06
|
|
|
MDC1C
|
[NCBI]
|
2.56648e-06
|
|
|
CMRD
|
[NCBI]
|
2.56648e-06
|
|
|
melorheostosis
|
[NCBI]
|
2.56648e-06
|
|
|
radioulnar synostosis
|
[NCBI]
|
2.56648e-06
|
|
|
ABCA1
|
[NCBI]
|
2.54897e-06
|
|
|
CREBBP
|
[NCBI]
|
2.54897e-06
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
2.54897e-06
|
|
|
ZNF145
|
[NCBI]
|
2.54897e-06
|
|
|
GRN
|
[NCBI]
|
2.54897e-06
|
|
|
AMC
|
[NCBI]
|
2.53548e-06
|
|
|
SHFM5
|
[NCBI]
|
2.49168e-06
|
|
|
hemifacial microsomia with radial defects
|
[NCBI]
|
2.49168e-06
|
|
|
osteoarthropathy of fingers, familial
|
[NCBI]
|
2.49168e-06
|
|
|
laryngeal abductor paralysis
|
[NCBI]
|
2.49168e-06
|
|
|
molar i reinclusion
|
[NCBI]
|
2.49168e-06
|
|
|
hydroxykynureninuria
|
[NCBI]
|
2.49168e-06
|
|
|
distichiasis
|
[NCBI]
|
2.49168e-06
|
|
|
dermochondrocorneal dystrophy
|
[NCBI]
|
2.49168e-06
|
|
|
macular edema, cystoid
|
[NCBI]
|
2.49168e-06
|
|
|
zinc, elevated plasma
|
[NCBI]
|
2.49168e-06
|
|
|
dyskeratosis, hereditary benign intraepithelial
|
[NCBI]
|
2.49168e-06
|
|
|
cenani syndactylism
|
[NCBI]
|
2.49168e-06
|
|
|
amyotrophy, neurogenic scapuloperoneal, new england type
|
[NCBI]
|
2.49168e-06
|
|
|
HTC2
|
[NCBI]
|
2.49168e-06
|
|
|
BMP4
|
[NCBI]
|
2.37282e-06
|
|
|
REN
|
[NCBI]
|
2.37282e-06
|
|
|
FHIT
|
[NCBI]
|
2.37282e-06
|
|
|
GNAS
|
[NCBI]
|
2.35206e-06
|
|
|
FCMD
|
[NCBI]
|
2.27187e-06
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
2.2067e-06
|
|
|
IGF1
|
[NCBI]
|
2.2067e-06
|
|
|
GSN
|
[NCBI]
|
2.2067e-06
|
|
|
MEFV
|
[NCBI]
|
2.2067e-06
|
|
|
GLC3A
|
[NCBI]
|
2.19398e-06
|
|
|
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency
|
[NCBI]
|
2.19398e-06
|
|
|
PBD
|
[NCBI]
|
2.19398e-06
|
|
|
PPAC
|
[NCBI]
|
2.19398e-06
|
|
|
NBIA1
|
[NCBI]
|
2.19398e-06
|
|
|
CSID
|
[NCBI]
|
2.19398e-06
|
|
|
osteogenesis imperfecta, type iii
|
[NCBI]
|
2.19398e-06
|
|
|
EKV
|
[NCBI]
|
2.19381e-06
|
|
|
bartter syndrome, type 3
|
[NCBI]
|
2.19381e-06
|
|
|
RET
|
[NCBI]
|
2.16058e-06
|
|
|
HEXA
|
[NCBI]
|
2.15621e-06
|
|
|
AIRE
|
[NCBI]
|
2.15621e-06
|
|
|
CMT1B
|
[NCBI]
|
2.14535e-06
|
|
|
JLNS1
|
[NCBI]
|
2.11243e-06
|
|
|
crouzon syndrome
|
[NCBI]
|
2.11243e-06
|
|
|
danon disease
|
[NCBI]
|
2.11243e-06
|
|
|
SOST
|
[NCBI]
|
2.11243e-06
|
|
|
von willebrand disease
|
[NCBI]
|
2.09608e-06
|
|
|
GLB1
|
[NCBI]
|
2.04999e-06
|
|
|
PDHA1
|
[NCBI]
|
2.04999e-06
|
|
|
AGT
|
[NCBI]
|
2.04999e-06
|
|
|
FGF8
|
[NCBI]
|
2.04999e-06
|
|
|
AQP4
|
[NCBI]
|
2.04999e-06
|
|
|
NTRK1
|
[NCBI]
|
2.04999e-06
|
|
|
SPG3A
|
[NCBI]
|
2.04934e-06
|
|
|
BGLAP
|
[NCBI]
|
2.03223e-06
|
|
|
IP
|
[NCBI]
|
2.01247e-06
|
|
|
MB
|
[NCBI]
|
1.96905e-06
|
|
|
AQP1
|
[NCBI]
|
1.90215e-06
|
|
|
C3
|
[NCBI]
|
1.90215e-06
|
|
|
PIGA
|
[NCBI]
|
1.90215e-06
|
|
|
CYP17A1
|
[NCBI]
|
1.90215e-06
|
|
|
MAG
|
[NCBI]
|
1.77573e-06
|
|
|
EPS
|
[NCBI]
|
1.76783e-06
|
|
|
SPCH1
|
[NCBI]
|
1.76783e-06
|
|
|
DDD
|
[NCBI]
|
1.76783e-06
|
|
|
SCA17
|
[NCBI]
|
1.76783e-06
|
|
|
BRCA1
|
[NCBI]
|
1.72875e-06
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
1.7284e-06
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
1.72385e-06
|
|
|
MPZ
|
[NCBI]
|
1.71597e-06
|
|
|
amyloidosis, familial visceral
|
[NCBI]
|
1.69791e-06
|
|
|
RMS1
|
[NCBI]
|
1.69791e-06
|
|
|
ATLD
|
[NCBI]
|
1.69791e-06
|
|
|
osseous heteroplasia, progressive
|
[NCBI]
|
1.69791e-06
|
|
|
CMT4B2
|
[NCBI]
|
1.69791e-06
|
|
|
apolipoprotein c-ii deficiency
|
[NCBI]
|
1.69791e-06
|
|
|
citrullinemia, type ii, neonatal-onset
|
[NCBI]
|
1.69791e-06
|
|
|
porencephaly, familial
|
[NCBI]
|
1.69791e-06
|
|
|
DFNA3
|
[NCBI]
|
1.69791e-06
|
|
|
EDC
|
[NCBI]
|
1.69791e-06
|
|
|
naxos disease
|
[NCBI]
|
1.69791e-06
|
|
|
HCA2
|
[NCBI]
|
1.69791e-06
|
|
|
MODY2
|
[NCBI]
|
1.69791e-06
|
|
|
emanuel syndrome
|
[NCBI]
|
1.69791e-06
|
|
|
atrial septal defect with atrioventricular conduction defects
|
[NCBI]
|
1.69791e-06
|
|
|
OGD
|
[NCBI]
|
1.69791e-06
|
|
|
PC2
|
[NCBI]
|
1.69791e-06
|
|
|
PVOD
|
[NCBI]
|
1.69791e-06
|
|
|
colloid cysts of third ventricle
|
[NCBI]
|
1.69791e-06
|
|
|
PRNP
|
[NCBI]
|
1.63625e-06
|
|
|
DSG1
|
[NCBI]
|
1.63109e-06
|
|
|
PALS
|
[NCBI]
|
1.61101e-06
|
|
|
PKD1
|
[NCBI]
|
1.60451e-06
|
|
|
menkes disease
|
[NCBI]
|
1.60358e-06
|
|
|
KIT
|
[NCBI]
|
1.50697e-06
|
|
|
ITGB2
|
[NCBI]
|
1.50697e-06
|
|
|
HEXB
|
[NCBI]
|
1.50697e-06
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
1.42871e-06
|
|
|
RS1
|
[NCBI]
|
1.38992e-06
|
|
|
F2R
|
[NCBI]
|
1.38992e-06
|
|
|
ESD
|
[NCBI]
|
1.38992e-06
|
|
|
coproporphyria
|
[NCBI]
|
1.38992e-06
|
|
|
OA1
|
[NCBI]
|
1.38992e-06
|
|
|
propionic acidemia
|
[NCBI]
|
1.37682e-06
|
|
|
HEPOD
|
[NCBI]
|
1.37682e-06
|
|
|
IBM2
|
[NCBI]
|
1.37682e-06
|
|
|
ARVD1
|
[NCBI]
|
1.37682e-06
|
|
|
SPG2
|
[NCBI]
|
1.37682e-06
|
|
|
ichthyosis congenita, harlequin fetus type
|
[NCBI]
|
1.37682e-06
|
|
|
MAPT
|
[NCBI]
|
1.37625e-06
|
|
|
bare lymphocyte syndrome, type ii
|
[NCBI]
|
1.35858e-06
|
|
|
PNPLA6
|
[NCBI]
|
1.20615e-06
|
|
|
DMD
|
[NCBI]
|
1.20412e-06
|
|
|
STK11
|
[NCBI]
|
1.17563e-06
|
|
|
NPS
|
[NCBI]
|
1.16291e-06
|
|
|
RCDP1
|
[NCBI]
|
1.15522e-06
|
|
|
FIH
|
[NCBI]
|
1.15522e-06
|
|
|
apert syndrome
|
[NCBI]
|
1.15522e-06
|
|
|
VIP
|
[NCBI]
|
1.14257e-06
|
|
|
PFIC1
|
[NCBI]
|
1.11691e-06
|
|
|
XPG
|
[NCBI]
|
1.05608e-06
|
|
|
scapuloperoneal syndrome, neurogenic, kaeser type
|
[NCBI]
|
1.05608e-06
|
|
|
BOCD
|
[NCBI]
|
1.05608e-06
|
|
|
DSAP1
|
[NCBI]
|
1.05608e-06
|
|
|
monilethrix
|
[NCBI]
|
1.05608e-06
|
|
|
pierson syndrome
|
[NCBI]
|
1.05608e-06
|
|
|
HES
|
[NCBI]
|
1.05608e-06
|
|
|
HMN2A
|
[NCBI]
|
1.05608e-06
|
|
|
myopathy, myosin storage
|
[NCBI]
|
1.05608e-06
|
|
|
brody myopathy
|
[NCBI]
|
1.05608e-06
|
|
|
dopamine beta-hydroxylase deficiency, congenital
|
[NCBI]
|
1.05608e-06
|
|
|
minicore myopathy with external ophthalmoplegia
|
[NCBI]
|
1.05608e-06
|
|
|
osteogenesis imperfecta, type iv
|
[NCBI]
|
1.02446e-06
|
|
|
SCN1
|
[NCBI]
|
1.02446e-06
|
|
|
HPRT1
|
[NCBI]
|
9.59158e-07
|
|
|
porokeratosis of mibelli
|
[NCBI]
|
9.21408e-07
|
|
|
MCOPS1
|
[NCBI]
|
9.21408e-07
|
|
|
SEMDJL
|
[NCBI]
|
9.21408e-07
|
|
|
basal ganglia calcification, idiopathic, childhood-onset
|
[NCBI]
|
9.21408e-07
|
|
|
CMTX1
|
[NCBI]
|
9.05549e-07
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
9.05549e-07
|
|
|
wolman disease
|
[NCBI]
|
8.98999e-07
|
|
|
FMR1
|
[NCBI]
|
8.97498e-07
|
|
|
GIP
|
[NCBI]
|
8.82745e-07
|
|
|
PON1
|
[NCBI]
|
8.63837e-07
|
|
|
PLTP
|
[NCBI]
|
8.63837e-07
|
|
|
deafness, conductive, with stapes fixation
|
[NCBI]
|
8.4469e-07
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
8.4469e-07
|
|
|
MCPH1
|
[NCBI]
|
7.14834e-07
|
|
|
VED
|
[NCBI]
|
7.14834e-07
|
|
|
heart block, congenital
|
[NCBI]
|
7.14834e-07
|
|
|
GEFS+
|
[NCBI]
|
7.14834e-07
|
|
|
MCDS
|
[NCBI]
|
7.14834e-07
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1
|
[NCBI]
|
7.14834e-07
|
|
|
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
|
[NCBI]
|
7.14834e-07
|
|
|
RB1
|
[NCBI]
|
6.87259e-07
|
|
|
RHO
|
[NCBI]
|
6.84946e-07
|
|
|
antithrombin iii deficiency
|
[NCBI]
|
6.84946e-07
|
|
|
HCH
|
[NCBI]
|
6.82391e-07
|
|
|
RP2
|
[NCBI]
|
6.02849e-07
|
|
|
MLL
|
[NCBI]
|
6.02849e-07
|
|
|
BTK
|
[NCBI]
|
6.01699e-07
|
|
|
PLSJ
|
[NCBI]
|
5.95399e-07
|
|
|
de sanctis-cacchione syndrome
|
[NCBI]
|
5.95399e-07
|
|
|
HHRH
|
[NCBI]
|
5.95399e-07
|
|
|
sturge-weber syndrome
|
[NCBI]
|
5.95399e-07
|
|
|
CTLN2
|
[NCBI]
|
5.95399e-07
|
|
|
XPV
|
[NCBI]
|
5.95399e-07
|
|
|
hemoglobin--variants for which the chain carrying the mutation is unknown or uncertain
|
[NCBI]
|
5.95399e-07
|
|
|
SPG6
|
[NCBI]
|
5.95399e-07
|
|
|
d-2-@hydroxyglutaric aciduria
|
[NCBI]
|
5.95399e-07
|
|
|
HSS
|
[NCBI]
|
5.65629e-07
|
|
|
CPI
|
[NCBI]
|
5.43025e-07
|
|
|
CDH1
|
[NCBI]
|
5.40328e-07
|
|
|
MAOA
|
[NCBI]
|
5.40328e-07
|
|
|
AMACR
|
[NCBI]
|
5.40328e-07
|
|
|
FGF23
|
[NCBI]
|
4.82035e-07
|
|
|
ACC
|
[NCBI]
|
4.62026e-07
|
|
|
MRX1
|
[NCBI]
|
4.62026e-07
|
|
|
cirrhosis, familial
|
[NCBI]
|
4.52689e-07
|
|
|
THC2
|
[NCBI]
|
4.52689e-07
|
|
|
pick disease of brain
|
[NCBI]
|
4.52689e-07
|
|
|
hyperlipoproteinemia, type i
|
[NCBI]
|
4.52689e-07
|
|
|
CDKN2A
|
[NCBI]
|
3.90967e-07
|
|
|
APOA1
|
[NCBI]
|
3.77468e-07
|
|
|
CLN3
|
[NCBI]
|
3.73927e-07
|
|
|
COMT
|
[NCBI]
|
3.57157e-07
|
|
|
EA2
|
[NCBI]
|
3.48044e-07
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-positive
|
[NCBI]
|
3.48044e-07
|
|
|
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
|
[NCBI]
|
3.48044e-07
|
|
|
PC
|
[NCBI]
|
3.30885e-07
|
|
|
mucopolysaccharidosis type iva
|
[NCBI]
|
3.30885e-07
|
|
|
PNKD1
|
[NCBI]
|
3.22093e-07
|
|
|
pheochromocytoma
|
[NCBI]
|
3.22093e-07
|
|
|
TGFB1
|
[NCBI]
|
2.8791e-07
|
|
|
trifunctional protein deficiency
|
[NCBI]
|
2.82774e-07
|
|
|
ISS
|
[NCBI]
|
2.82774e-07
|
|
|
CMT4A
|
[NCBI]
|
2.82774e-07
|
|
|
CDB1
|
[NCBI]
|
2.82774e-07
|
|
|
antiphospholipid syndrome
|
[NCBI]
|
2.82774e-07
|
|
|
XPF
|
[NCBI]
|
2.82774e-07
|
|
|
CMT2B
|
[NCBI]
|
2.82774e-07
|
|
|
lynch syndrome i
|
[NCBI]
|
2.65131e-07
|
|
|
GBA
|
[NCBI]
|
2.54905e-07
|
|
|
ICP
|
[NCBI]
|
2.4362e-07
|
|
|
diabetes-deafness syndrome, maternally transmitted
|
[NCBI]
|
2.4362e-07
|
|
|
PHA1
|
[NCBI]
|
2.4362e-07
|
|
|
enchondromatosis, multiple
|
[NCBI]
|
2.4362e-07
|
|
|
FXTAS
|
[NCBI]
|
2.4362e-07
|
|
|
XFS
|
[NCBI]
|
2.4362e-07
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
2.4362e-07
|
|
|
GJB1
|
[NCBI]
|
2.27228e-07
|
|
|
NF2
|
[NCBI]
|
2.12259e-07
|
|
|
GH1
|
[NCBI]
|
2.12259e-07
|
|
|
PKD2
|
[NCBI]
|
2.12259e-07
|
|
|
REG3A
|
[NCBI]
|
2.12259e-07
|
|
|
OPA1
|
[NCBI]
|
1.88578e-07
|
|
|
LAD
|
[NCBI]
|
1.88578e-07
|
|
|
porphyria, congenital erythropoietic
|
[NCBI]
|
1.86907e-07
|
|
|
MLC
|
[NCBI]
|
1.86907e-07
|
|
|
EVR1
|
[NCBI]
|
1.86907e-07
|
|
|
BMD
|
[NCBI]
|
1.77347e-07
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
1.6297e-07
|
|
|
CASR
|
[NCBI]
|
1.55586e-07
|
|
|
BRCA2
|
[NCBI]
|
1.18841e-07
|
|
|
WS1
|
[NCBI]
|
1.04826e-07
|
|
|
vitamin d-dependent rickets, type i
|
[NCBI]
|
9.42727e-08
|
|
|
paget disease, juvenile
|
[NCBI]
|
9.42727e-08
|
|
|
kawasaki disease
|
[NCBI]
|
9.42727e-08
|
|
|
pituitary dwarfism iii
|
[NCBI]
|
9.42727e-08
|
|
|
mannosidosis, beta a, lysosomal
|
[NCBI]
|
9.42727e-08
|
|
|
CDG2C
|
[NCBI]
|
9.42727e-08
|
|
|
aceruloplasminemia
|
[NCBI]
|
9.42727e-08
|
|
|
tetralogy of fallot
|
[NCBI]
|
9.42727e-08
|
|
|
CRS1
|
[NCBI]
|
9.34394e-08
|
|
|
methionine adenosyltransferase deficiency
|
[NCBI]
|
9.34394e-08
|
|
|
NSHPT
|
[NCBI]
|
9.34394e-08
|
|
|
hydrocephalus
|
[NCBI]
|
9.34394e-08
|
|
|
fibromatosis, juvenile hyaline
|
[NCBI]
|
9.34394e-08
|
|
|
GINGF
|
[NCBI]
|
9.34394e-08
|
|
|
PBT
|
[NCBI]
|
9.34394e-08
|
|
|
SNDI
|
[NCBI]
|
9.34394e-08
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
9.34394e-08
|
|
|
COL1A2
|
[NCBI]
|
9.16461e-08
|
|
|
leiomyomatosis and renal cell cancer, hereditary
|
[NCBI]
|
8.88668e-08
|
|
|
sudden infant death syndrome
|
[NCBI]
|
7.77818e-08
|
|
|
porphyria cutanea tarda
|
[NCBI]
|
7.77589e-08
|
|
|
VHL
|
[NCBI]
|
7.44726e-08
|
|
|
RNASE2
|
[NCBI]
|
5.93941e-08
|
|
|
ABCC8
|
[NCBI]
|
5.93941e-08
|
|
|
EIG
|
[NCBI]
|
5.79667e-08
|
|
|
MECP2
|
[NCBI]
|
4.96346e-08
|
|
|
MEN2A
|
[NCBI]
|
3.75257e-08
|
|
|
SPG15
|
[NCBI]
|
2.63534e-08
|
|
|
myasthenia, limb-girdle, with tubular aggregates
|
[NCBI]
|
2.63534e-08
|
|
|
leukonychia totalis
|
[NCBI]
|
2.63534e-08
|
|
|
NNO1
|
[NCBI]
|
2.63534e-08
|
|
|
visceral myopathy, familial, with external ophthalmoplegia
|
[NCBI]
|
2.63534e-08
|
|
|
anosmia, congenital
|
[NCBI]
|
2.63534e-08
|
|
|
keratosis palmoplantaris papulosa
|
[NCBI]
|
2.63534e-08
|
|
|
femur, unilateral bifid, with monodactylous ectrodactyly
|
[NCBI]
|
2.63534e-08
|
|
|
DFNB1
|
[NCBI]
|
1.67374e-08
|
|
|
mucopolysaccharidosis type iiia
|
[NCBI]
|
1.67374e-08
|
|
|
SFD
|
[NCBI]
|
1.26242e-08
|
|
|
gaucher disease, type ii
|
[NCBI]
|
1.26242e-08
|
|
|
myxoma, intracardiac
|
[NCBI]
|
1.26242e-08
|
|
|
uridine 5-prime monophosphate hydrolase deficiency, hemolytic anemia due to
|
[NCBI]
|
1.26242e-08
|
|
|
erythrocytosis, familial, 2
|
[NCBI]
|
1.26242e-08
|
|
|
HPE3
|
[NCBI]
|
1.26242e-08
|
|
|
DSMA1
|
[NCBI]
|
1.26242e-08
|
|
|
ichthyosis vulgaris
|
[NCBI]
|
1.26242e-08
|
|
|
amelogenesis imperfecta, hypoplastic/hypomaturation, x-linked 1
|
[NCBI]
|
1.26242e-08
|
|
|
d-bifunctional protein deficiency
|
[NCBI]
|
1.26242e-08
|
|
|
RYR1
|
[NCBI]
|
1.14175e-08
|
|
|
CORDX1
|
[NCBI]
|
8.36737e-09
|
|
|
mast cell disease
|
[NCBI]
|
8.36737e-09
|
|
|
PGL4
|
[NCBI]
|
8.36737e-09
|
|
|
vitamin k-dependent clotting factors, combined deficiency of, 1
|
[NCBI]
|
8.36737e-09
|
|
|
medulloblastoma
|
[NCBI]
|
8.36737e-09
|
|
|
PNDM
|
[NCBI]
|
8.36737e-09
|
|
|
ACG2
|
[NCBI]
|
8.36737e-09
|
|
|
HOMG3
|
[NCBI]
|
8.36737e-09
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
8.36737e-09
|
|
|
langer mesomelic dysplasia
|
[NCBI]
|
8.36737e-09
|
|
|
sandhoff disease
|
[NCBI]
|
6.20899e-09
|
|
|
VHL
|
[NCBI]
|
4.53886e-09
|
|
|
IHH
|
[NCBI]
|
3.20024e-09
|
|
|
UCP2
|
[NCBI]
|
6.01192e-10
|
|
|
ASS
|
[NCBI]
|
6.01192e-10
|
|
|
CGL2
|
[NCBI]
|
2.71801e-10
|
|
|
epidermolysis bullosa letalis
|
[NCBI]
|
2.71801e-10
|
|