|
OMIM |
Link |
Information gain |
01 |
|
kabuki syndrome
|
[NCBI]
|
0.0113158
|
|
|
VRNI
|
[NCBI]
|
0.0106213
|
|
|
SRS
|
[NCBI]
|
0.00926161
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.00861466
|
|
|
FRNS
|
[NCBI]
|
0.00816515
|
|
|
SLE
|
[NCBI]
|
0.00696281
|
|
|
NLS
|
[NCBI]
|
0.00621456
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.00442351
|
|
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
0.00403199
|
|
|
CF
|
[NCBI]
|
0.0037929
|
|
|
IS1
|
[NCBI]
|
0.00356597
|
|
|
EEC1
|
[NCBI]
|
0.00353113
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
0.00329292
|
|
|
AOS
|
[NCBI]
|
0.00321717
|
|
|
mohr syndrome
|
[NCBI]
|
0.00310339
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
0.00284682
|
|
|
OFD4
|
[NCBI]
|
0.00279677
|
|
|
SMS
|
[NCBI]
|
0.00256674
|
|
|
WHS
|
[NCBI]
|
0.00237822
|
|
|
corpus callosum, agenesis of, with facial anomalies and robin sequence
|
[NCBI]
|
0.00231094
|
|
|
JBTS1
|
[NCBI]
|
0.00228754
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
0.00198044
|
|
|
MKS2
|
[NCBI]
|
0.00198044
|
|
|
AIC
|
[NCBI]
|
0.0019533
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.0019533
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.00191848
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.00190425
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.00188598
|
|
|
cranioectodermal dysplasia
|
[NCBI]
|
0.00185753
|
|
|
popliteal pterygium syndrome, lethal type
|
[NCBI]
|
0.00185753
|
|
|
POADS
|
[NCBI]
|
0.00179254
|
|
|
cayler cardiofacial syndrome
|
[NCBI]
|
0.00178616
|
|
|
MKS1
|
[NCBI]
|
0.00177431
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.0017616
|
|
|
charge syndrome
|
[NCBI]
|
0.0016831
|
|
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
0.00163998
|
|
|
costello syndrome
|
[NCBI]
|
0.00155551
|
|
|
syndactyly, type i, with microcephaly and mental retardation
|
[NCBI]
|
0.00154958
|
|
|
hypertelorism, teebi type
|
[NCBI]
|
0.00154958
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
0.00154958
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.0014207
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.00141197
|
|
|
ear, patella, short stature syndrome
|
[NCBI]
|
0.00141197
|
|
|
campomelia, cumming type
|
[NCBI]
|
0.0013198
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.00131414
|
|
|
megacystis-microcolon-intestinal hypoperistalsis syndrome
|
[NCBI]
|
0.00126123
|
|
|
HFM
|
[NCBI]
|
0.00122608
|
|
|
RBS
|
[NCBI]
|
0.00120204
|
|
|
ACLS
|
[NCBI]
|
0.00115585
|
|
|
TBS
|
[NCBI]
|
0.00115354
|
|
|
CES
|
[NCBI]
|
0.0011434
|
|
|
SHFLD1
|
[NCBI]
|
0.00113196
|
|
|
DBQD
|
[NCBI]
|
0.00113196
|
|
|
ABS
|
[NCBI]
|
0.00110586
|
|
|
PHS
|
[NCBI]
|
0.00108537
|
|
|
MKKS
|
[NCBI]
|
0.0010787
|
|
|
lymphedema, microcephaly, chorioretinopathy syndrome
|
[NCBI]
|
0.0010617
|
|
|
SLOS
|
[NCBI]
|
0.00104033
|
|
|
COH1
|
[NCBI]
|
0.00103928
|
|
|
SHFM2
|
[NCBI]
|
0.00103266
|
|
|
skin creases, multiple benign ring-shaped, of limbs
|
[NCBI]
|
0.0010232
|
|
|
tibia, hypoplasia of, with polydactyly
|
[NCBI]
|
0.00100432
|
|
|
renal hamartomas, nephroblastomatosis, and fetal gigantism
|
[NCBI]
|
0.00100432
|
|
|
FGS2
|
[NCBI]
|
0.000989668
|
|
|
mental retardation with optic atrophy, deafness, and seizures
|
[NCBI]
|
0.000989668
|
|
|
faciodigitogenital syndrome, recessive
|
[NCBI]
|
0.000989668
|
|
|
adducted thumbs syndrome
|
[NCBI]
|
0.000989668
|
|
|
mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
|
[NCBI]
|
0.000989668
|
|
|
CLS
|
[NCBI]
|
0.000982992
|
|
|
SHFM1
|
[NCBI]
|
0.000968632
|
|
|
GCPS
|
[NCBI]
|
0.000948094
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
0.00094774
|
|
|
BWCNS
|
[NCBI]
|
0.00094696
|
|
|
kbg syndrome
|
[NCBI]
|
0.00094696
|
|
|
SGBS1
|
[NCBI]
|
0.00094131
|
|
|
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging
|
[NCBI]
|
0.000928666
|
|
|
MG
|
[NCBI]
|
0.000912216
|
|
|
ODDD
|
[NCBI]
|
0.000905007
|
|
|
MCOPS1
|
[NCBI]
|
0.000891349
|
|
|
OKS
|
[NCBI]
|
0.000886077
|
|
|
JBS
|
[NCBI]
|
0.000884459
|
|
|
hennekam lymphangiectasia-lymphedema syndrome
|
[NCBI]
|
0.00087951
|
|
|
gapo syndrome
|
[NCBI]
|
0.00087951
|
|
|
HOS
|
[NCBI]
|
0.000819351
|
|
|
c syndrome
|
[NCBI]
|
0.000792746
|
|
|
BGS
|
[NCBI]
|
0.000784779
|
|
|
fraser syndrome
|
[NCBI]
|
0.00078328
|
|
|
DGS
|
[NCBI]
|
0.000783191
|
|
|
MBS
|
[NCBI]
|
0.000781389
|
|
|
microcephalic osteodysplastic primordial dwarfism, type iii
|
[NCBI]
|
0.000760422
|
|
|
OSCS
|
[NCBI]
|
0.000760422
|
|
|
mental retardation, congenital heart disease, blepharophimosis, blepharoptosis, and hypoplastic teeth
|
[NCBI]
|
0.000760083
|
|
|
laurin-sandrow syndrome
|
[NCBI]
|
0.000760083
|
|
|
holoprosencephaly
|
[NCBI]
|
0.00073927
|
|
|
faciogenital dysplasia
|
[NCBI]
|
0.000737337
|
|
|
intestinal atresia, multiple
|
[NCBI]
|
0.000713316
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
0.000698181
|
|
|
MDLS
|
[NCBI]
|
0.00066644
|
|
|
PCA
|
[NCBI]
|
0.000662878
|
|
|
THAS
|
[NCBI]
|
0.000662878
|
|
|
hypomandibular faciocranial dysostosis
|
[NCBI]
|
0.000659656
|
|
|
cerebrooculonasal syndrome
|
[NCBI]
|
0.000659656
|
|
|
hypercalciuria, absorptive, 1
|
[NCBI]
|
0.000659656
|
|
|
anorectal anomalies
|
[NCBI]
|
0.000659656
|
|
|
cdags syndrome
|
[NCBI]
|
0.000659656
|
|
|
oculopalatocerebral syndrome
|
[NCBI]
|
0.000659656
|
|
|
brooks-wisniewski-brown syndrome
|
[NCBI]
|
0.000659656
|
|
|
acropectorovertebral dysplasia, f-form of
|
[NCBI]
|
0.000659656
|
|
|
lung agenesis
|
[NCBI]
|
0.000659656
|
|
|
mesomelia-synostoses syndrome
|
[NCBI]
|
0.000659656
|
|
|
otoonychoperoneal syndrome
|
[NCBI]
|
0.000659656
|
|
|
burn-mckeown syndrome
|
[NCBI]
|
0.000659656
|
|
|
PRS
|
[NCBI]
|
0.000659656
|
|
|
oculootofacial dysplasia
|
[NCBI]
|
0.000659656
|
|
|
RIEG2
|
[NCBI]
|
0.000656569
|
|
|
genitopatellar syndrome
|
[NCBI]
|
0.000656569
|
|
|
terminal osseous dysplasia and pigmentary defects
|
[NCBI]
|
0.000656569
|
|
|
renal-hepatic-pancreatic dysplasia with dandy-walker cyst
|
[NCBI]
|
0.000656569
|
|
|
adducted thumb-clubfoot syndrome
|
[NCBI]
|
0.000656569
|
|
|
SHFM3
|
[NCBI]
|
0.00064523
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
0.000641636
|
|
|
constricting bands, congenital
|
[NCBI]
|
0.000641339
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
0.000640459
|
|
|
camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases
|
[NCBI]
|
0.000629827
|
|
|
short rib-polydactyly syndrome, type i
|
[NCBI]
|
0.000629827
|
|
|
MCOPS6
|
[NCBI]
|
0.000629827
|
|
|
microphthalmia with limb anomalies
|
[NCBI]
|
0.000629827
|
|
|
OPD2
|
[NCBI]
|
0.000613344
|
|
|
walker-warburg syndrome
|
[NCBI]
|
0.000610008
|
|
|
PKS
|
[NCBI]
|
0.000592322
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.000581585
|
|
|
kenny-caffey syndrome, type 2
|
[NCBI]
|
0.000581585
|
|
|
poland syndrome
|
[NCBI]
|
0.000555868
|
|
|
hypertrichotic osteochondrodysplasia
|
[NCBI]
|
0.000530121
|
|
|
dyssegmental dysplasia, rolland-desbuquois type
|
[NCBI]
|
0.000530121
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
0.000526083
|
|
|
DA2A
|
[NCBI]
|
0.000516873
|
|
|
ZLS
|
[NCBI]
|
0.000512309
|
|
|
SHFM5
|
[NCBI]
|
0.000501706
|
|
|
lateral meningocele syndrome
|
[NCBI]
|
0.000501706
|
|
|
hemifacial microsomia with radial defects
|
[NCBI]
|
0.000501706
|
|
|
dysgnathia complex
|
[NCBI]
|
0.000501706
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
0.000495268
|
|
|
campomelic dysplasia
|
[NCBI]
|
0.000493349
|
|
|
multiple pterygium syndrome, lethal type
|
[NCBI]
|
0.00049204
|
|
|
RIEG1
|
[NCBI]
|
0.000487518
|
|
|
SCDO1
|
[NCBI]
|
0.000485839
|
|
|
APC
|
[NCBI]
|
0.000482268
|
|
|
UMS
|
[NCBI]
|
0.000481511
|
|
|
vacterl association with hydrocephalus, x-linked
|
[NCBI]
|
0.000475524
|
|
|
ulna and fibula, absence of, with severe limb deficiency
|
[NCBI]
|
0.000474695
|
|
|
megalencephaly-cutis marmorata telangiectatica congenita
|
[NCBI]
|
0.000474695
|
|
|
microcephalic osteodysplastic primordial dwarfism, type i
|
[NCBI]
|
0.000470764
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
0.000466802
|
|
|
FMD
|
[NCBI]
|
0.000452187
|
|
|
microcephaly, hiatus hernia, and nephrotic syndrome
|
[NCBI]
|
0.000450439
|
|
|
TRPS2
|
[NCBI]
|
0.000447195
|
|
|
BPES
|
[NCBI]
|
0.000446223
|
|
|
GLI3
|
[NCBI]
|
0.000444102
|
|
|
oculocerebrocutaneous syndrome
|
[NCBI]
|
0.000442005
|
|
|
JBS
|
[NCBI]
|
0.000435851
|
|
|
FGFR2
|
[NCBI]
|
0.000426268
|
|
|
weaver syndrome
|
[NCBI]
|
0.000425636
|
|
|
COFS1
|
[NCBI]
|
0.000423325
|
|
|
pitt syndrome
|
[NCBI]
|
0.000423325
|
|
|
LRS1
|
[NCBI]
|
0.000423325
|
|
|
NHS
|
[NCBI]
|
0.000420985
|
|
|
disorganization, mouse, homolog of
|
[NCBI]
|
0.000416444
|
|
|
PPS
|
[NCBI]
|
0.000414005
|
|
|
PAX2
|
[NCBI]
|
0.000400418
|
|
|
JBTS2
|
[NCBI]
|
0.000397455
|
|
|
trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina
|
[NCBI]
|
0.000397455
|
|
|
fibrochondrogenesis
|
[NCBI]
|
0.000397455
|
|
|
nipples, supernumerary
|
[NCBI]
|
0.000397455
|
|
|
hand-foot-uterus syndrome
|
[NCBI]
|
0.000395143
|
|
|
MCOPS9
|
[NCBI]
|
0.000392246
|
|
|
shprintzen-goldberg craniosynostosis syndrome
|
[NCBI]
|
0.000392246
|
|
|
seckel syndrome 1
|
[NCBI]
|
0.000390695
|
|
|
MVA
|
[NCBI]
|
0.000390695
|
|
|
SALL1
|
[NCBI]
|
0.000389511
|
|
|
OFD1
|
[NCBI]
|
0.000383031
|
|
|
PITX2
|
[NCBI]
|
0.000382783
|
|
|
diaphragmatic hernia, congenital
|
[NCBI]
|
0.000381743
|
|
|
axenfeld-rieger anomaly with cardiac defects and sensorineural hearing loss
|
[NCBI]
|
0.000379999
|
|
|
kaufman oculocerebrofacial syndrome
|
[NCBI]
|
0.000379999
|
|
|
OFD8
|
[NCBI]
|
0.000379999
|
|
|
immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum
|
[NCBI]
|
0.000379999
|
|
|
palpebral coloboma-lipoma syndrome
|
[NCBI]
|
0.000379999
|
|
|
cerebrofaciothoracic dysplasia
|
[NCBI]
|
0.000379999
|
|
|
nablus mask-like facial syndrome
|
[NCBI]
|
0.000379999
|
|
|
DIH2
|
[NCBI]
|
0.000379999
|
|
|
SPG9
|
[NCBI]
|
0.000379999
|
|
|
OFD5
|
[NCBI]
|
0.000379999
|
|
|
macrocephaly with multiple epiphyseal dysplasia and distinctive facies
|
[NCBI]
|
0.000379999
|
|
|
OFD3
|
[NCBI]
|
0.000379999
|
|
|
mesomelic dysplasia, kantaputra type
|
[NCBI]
|
0.000379999
|
|
|
OPD1
|
[NCBI]
|
0.000376779
|
|
|
LMS
|
[NCBI]
|
0.000376779
|
|
|
ALGS1
|
[NCBI]
|
0.000373122
|
|
|
FFS
|
[NCBI]
|
0.000368037
|
|
|
VEGF
|
[NCBI]
|
0.000367402
|
|
|
palatopharyngeal incompetence
|
[NCBI]
|
0.000366044
|
|
|
BOR1
|
[NCBI]
|
0.000348634
|
|
|
adult syndrome
|
[NCBI]
|
0.000347985
|
|
|
LADD
|
[NCBI]
|
0.000347985
|
|
|
EEC3
|
[NCBI]
|
0.000346117
|
|
|
TNF
|
[NCBI]
|
0.000345974
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
0.000342821
|
|
|
DRRS
|
[NCBI]
|
0.000333006
|
|
|
currarino syndrome
|
[NCBI]
|
0.00033078
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
0.00033078
|
|
|
van der woude syndrome 2
|
[NCBI]
|
0.000329767
|
|
|
wittwer syndrome
|
[NCBI]
|
0.000329767
|
|
|
BDA4
|
[NCBI]
|
0.000329767
|
|
|
FGS3
|
[NCBI]
|
0.000329767
|
|
|
abidi x-linked mental retardation syndrome
|
[NCBI]
|
0.000329767
|
|
|
cataract, ataxia, short stature, and mental retardation
|
[NCBI]
|
0.000329767
|
|
|
brachydactyly, type a5, with nail dysplasia
|
[NCBI]
|
0.000329767
|
|
|
SCKL2
|
[NCBI]
|
0.000329767
|
|
|
aphalangia, partial, with syndactyly and duplication of metatarsal iv
|
[NCBI]
|
0.000329767
|
|
|
chiari malformation type ii
|
[NCBI]
|
0.000329767
|
|
|
MCS
|
[NCBI]
|
0.000329767
|
|
|
broad terminal phalanges, familial
|
[NCBI]
|
0.000329767
|
|
|
MRXS11
|
[NCBI]
|
0.000329767
|
|
|
SPG24
|
[NCBI]
|
0.000329767
|
|
|
microcephalic osteodysplastic primordial dwarfism with tooth abnormalities
|
[NCBI]
|
0.000329767
|
|
|
coloboma-obesity-hypogenitalism-mental retardation syndrome
|
[NCBI]
|
0.000329767
|
|
|
oculorenocerebellar syndrome
|
[NCBI]
|
0.000329767
|
|
|
MRXS12
|
[NCBI]
|
0.000329767
|
|
|
diamond-blackfan anemia with microtia and cleft palate
|
[NCBI]
|
0.000329767
|
|
|
umbilicus, familial flat
|
[NCBI]
|
0.000329767
|
|
|
acropectoral syndrome
|
[NCBI]
|
0.000329767
|
|
|
3q29 microdeletion syndrome
|
[NCBI]
|
0.000329767
|
|
|
triphalangeal thumb, nonopposable
|
[NCBI]
|
0.000329767
|
|
|
SPOAN
|
[NCBI]
|
0.000329767
|
|
|
mental retardation, severe, with spasticity and pigmentary tapetoretinal degeneration
|
[NCBI]
|
0.000329767
|
|
|
short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting
|
[NCBI]
|
0.000329767
|
|
|
leg, absence deformity of, with congenital cataract
|
[NCBI]
|
0.000329767
|
|
|
heterotopia, periventricular, associated with chromosome 5p anomalies
|
[NCBI]
|
0.000329767
|
|
|
SCKL3
|
[NCBI]
|
0.000329767
|
|
|
camptobrachydactyly
|
[NCBI]
|
0.000329767
|
|
|
armfield x-linked mental retardation syndrome
|
[NCBI]
|
0.000329767
|
|
|
FGS4
|
[NCBI]
|
0.000329767
|
|
|
polycystic kidney disease, potter type i, with microbrachycephaly, hypertelorism, and brachymelia
|
[NCBI]
|
0.000329767
|
|
|
sotos syndrome
|
[NCBI]
|
0.000327848
|
|
|
ATRX
|
[NCBI]
|
0.000325833
|
|
|
murcs association
|
[NCBI]
|
0.000321593
|
|
|
short syndrome
|
[NCBI]
|
0.000321593
|
|
|
phace association
|
[NCBI]
|
0.000321593
|
|
|
vacterl association with hydrocephalus
|
[NCBI]
|
0.000321593
|
|
|
oeis complex
|
[NCBI]
|
0.000321593
|
|
|
peho syndrome
|
[NCBI]
|
0.000320304
|
|
|
ichthyosis follicularis, atrichia, and photophobia syndrome
|
[NCBI]
|
0.000320304
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
0.000320088
|
|
|
vater association
|
[NCBI]
|
0.000320088
|
|
|
c-like syndrome
|
[NCBI]
|
0.000316975
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
0.000315681
|
|
|
cerebrocostomandibular syndrome
|
[NCBI]
|
0.000315681
|
|
|
SHH
|
[NCBI]
|
0.000308399
|
|
|
TBX3
|
[NCBI]
|
0.000307637
|
|
|
CHD7
|
[NCBI]
|
0.000304172
|
|
|
MADA
|
[NCBI]
|
0.000303617
|
|
|
ZEB2
|
[NCBI]
|
0.000303052
|
|
|
SJS1
|
[NCBI]
|
0.000301904
|
|
|
STL1
|
[NCBI]
|
0.000301046
|
|
|
RPS6KA3
|
[NCBI]
|
0.000299482
|
|
|
TBX5
|
[NCBI]
|
0.000295891
|
|
|
TP73L
|
[NCBI]
|
0.00029499
|
|
|
ablepharon-macrostomia syndrome
|
[NCBI]
|
0.000293808
|
|
|
martsolf syndrome
|
[NCBI]
|
0.000293808
|
|
|
tight skin contracture syndrome, lethal
|
[NCBI]
|
0.000290057
|
|
|
trichodentoosseous syndrome
|
[NCBI]
|
0.000290057
|
|
|
SYNS1
|
[NCBI]
|
0.000285432
|
|
|
RNS
|
[NCBI]
|
0.000285432
|
|
|
microcephalic osteodysplastic primordial dwarfism, type ii
|
[NCBI]
|
0.000283247
|
|
|
CFNS
|
[NCBI]
|
0.000273702
|
|
|
opitz syndrome
|
[NCBI]
|
0.000272699
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
0.000272699
|
|
|
WS1
|
[NCBI]
|
0.000270308
|
|
|
abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism
|
[NCBI]
|
0.000268803
|
|
|
FDH
|
[NCBI]
|
0.000268733
|
|
|
NOG
|
[NCBI]
|
0.000267715
|
|
|
leopard syndrome 1
|
[NCBI]
|
0.000267084
|
|
|
MEHMO
|
[NCBI]
|
0.000264879
|
|
|
TKCR
|
[NCBI]
|
0.000264879
|
|
|
nievergelt syndrome
|
[NCBI]
|
0.000264879
|
|
|
omodysplasia
|
[NCBI]
|
0.000264879
|
|
|
brachydactyly-mental retardation syndrome
|
[NCBI]
|
0.000264879
|
|
|
rosselli-gulienetti syndrome
|
[NCBI]
|
0.000264879
|
|
|
MCOPS4
|
[NCBI]
|
0.000264879
|
|
|
heterotaxy, visceral, 3, autosomal
|
[NCBI]
|
0.000264879
|
|
|
bullous dystrophy, hereditary macular type
|
[NCBI]
|
0.000264879
|
|
|
malpuech facial clefting syndrome
|
[NCBI]
|
0.000264135
|
|
|
MLRD
|
[NCBI]
|
0.000264135
|
|
|
holzgreve syndrome
|
[NCBI]
|
0.000264135
|
|
|
arima syndrome
|
[NCBI]
|
0.000260344
|
|
|
blepharocheilodontic syndrome
|
[NCBI]
|
0.000260344
|
|
|
kohlschutter-tonz syndrome
|
[NCBI]
|
0.000260344
|
|
|
BFLS
|
[NCBI]
|
0.000259398
|
|
|
mowat-wilson syndrome
|
[NCBI]
|
0.000259106
|
|
|
MRXHF1
|
[NCBI]
|
0.000257708
|
|
|
sc phocomelia syndrome
|
[NCBI]
|
0.000255475
|
|
|
MCOPS7
|
[NCBI]
|
0.000254689
|
|
|
SALL4
|
[NCBI]
|
0.000246452
|
|
|
RP
|
[NCBI]
|
0.000245153
|
|
|
progeroid syndrome, neonatal
|
[NCBI]
|
0.000243117
|
|
|
SOX9
|
[NCBI]
|
0.00024034
|
|
|
lipomatosis, multiple
|
[NCBI]
|
0.000238448
|
|
|
MAFD6
|
[NCBI]
|
0.000238448
|
|
|
TRPS1
|
[NCBI]
|
0.000234848
|
|
|
RSTS
|
[NCBI]
|
0.000233408
|
|
|
VWS
|
[NCBI]
|
0.000233408
|
|
|
HMI
|
[NCBI]
|
0.000232608
|
|
|
GPC3
|
[NCBI]
|
0.000231076
|
|
|
TS
|
[NCBI]
|
0.000229485
|
|
|
acheiropody
|
[NCBI]
|
0.000228179
|
|
|
peters-plus syndrome
|
[NCBI]
|
0.000226015
|
|
|
RAI1
|
[NCBI]
|
0.000221852
|
|
|
aglossia-adactylia
|
[NCBI]
|
0.000220946
|
|
|
MCOPS2
|
[NCBI]
|
0.000216954
|
|
|
SYM1
|
[NCBI]
|
0.000216954
|
|
|
L1CAM
|
[NCBI]
|
0.000213058
|
|
|
WBS
|
[NCBI]
|
0.000212397
|
|
|
omodysplasia, generalized form
|
[NCBI]
|
0.00021234
|
|
|
GO
|
[NCBI]
|
0.00021234
|
|
|
gonadal dysgenesis, xx type, with deafness
|
[NCBI]
|
0.00021234
|
|
|
fryns microphthalmia syndrome
|
[NCBI]
|
0.000211299
|
|
|
digitorenocerebral syndrome
|
[NCBI]
|
0.000211299
|
|
|
microcephaly with chemotactic defect and transient hypogammaglobulinemia
|
[NCBI]
|
0.000211299
|
|
|
charge-like syndrome, x-linked
|
[NCBI]
|
0.000211299
|
|
|
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
|
[NCBI]
|
0.000211299
|
|
|
mental retardation with epilepsy and characteristic facies
|
[NCBI]
|
0.000211299
|
|
|
gombo syndrome
|
[NCBI]
|
0.000211299
|
|
|
aminopterin syndrome sine aminopterin
|
[NCBI]
|
0.000211299
|
|
|
por deficiency
|
[NCBI]
|
0.000210415
|
|
|
floating-harbor syndrome
|
[NCBI]
|
0.000210415
|
|
|
weill-marchesani syndrome, autosomal recessive
|
[NCBI]
|
0.000210415
|
|
|
ALD
|
[NCBI]
|
0.000209277
|
|
|
ALMS
|
[NCBI]
|
0.000208347
|
|
|
feingold syndrome
|
[NCBI]
|
0.000206893
|
|
|
TMEM67
|
[NCBI]
|
0.000202737
|
|
|
COH1
|
[NCBI]
|
0.000202737
|
|
|
CSA
|
[NCBI]
|
0.000200526
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
0.000199755
|
|
|
ROR2
|
[NCBI]
|
0.000199556
|
|
|
young-simpson syndrome
|
[NCBI]
|
0.000197516
|
|
|
donnai-barrow syndrome
|
[NCBI]
|
0.000197516
|
|
|
marshall-smith syndrome
|
[NCBI]
|
0.000197516
|
|
|
spondylocarpotarsal synostosis syndrome
|
[NCBI]
|
0.000197516
|
|
|
acrofacial dysostosis syndrome of rodriguez
|
[NCBI]
|
0.000197516
|
|
|
cerebrofrontofacial syndrome
|
[NCBI]
|
0.000197516
|
|
|
CLPED1
|
[NCBI]
|
0.000197287
|
|
|
ankyloblepharon-ectodermal defects-cleft lip/palate
|
[NCBI]
|
0.000197287
|
|
|
CMTC
|
[NCBI]
|
0.000193249
|
|
|
HCFP1
|
[NCBI]
|
0.000192303
|
|
|
microcephaly with chorioretinopathy, autosomal recessive
|
[NCBI]
|
0.000192303
|
|
|
splenic hypoplasia
|
[NCBI]
|
0.000192303
|
|
|
microtia-anotia
|
[NCBI]
|
0.000192303
|
|
|
VDEGS
|
[NCBI]
|
0.000192303
|
|
|
exstrophy of bladder
|
[NCBI]
|
0.000192303
|
|
|
bruck syndrome 1
|
[NCBI]
|
0.000192303
|
|
|
acromegaloid facial appearance syndrome
|
[NCBI]
|
0.000192303
|
|
|
chromosome 10q deletion syndrome
|
[NCBI]
|
0.000192303
|
|
|
ALMS1
|
[NCBI]
|
0.000192232
|
|
|
AFD1
|
[NCBI]
|
0.000191295
|
|
|
MCOPS3
|
[NCBI]
|
0.000189462
|
|
|
POR
|
[NCBI]
|
0.000184849
|
|
|
FGD1
|
[NCBI]
|
0.000184849
|
|
|
papillorenal syndrome
|
[NCBI]
|
0.000181812
|
|
|
sacral defect with anterior meningocele
|
[NCBI]
|
0.000181812
|
|
|
rokitansky-kuster-hauser syndrome
|
[NCBI]
|
0.000180245
|
|
|
frontonasal dysplasia
|
[NCBI]
|
0.000180245
|
|
|
ALSG
|
[NCBI]
|
0.000180245
|
|
|
carnitine palmitoyltransferase ii deficiency, lethal neonatal
|
[NCBI]
|
0.000180245
|
|
|
JBTS3
|
[NCBI]
|
0.000180245
|
|
|
chiari malformation type i
|
[NCBI]
|
0.000178756
|
|
|
HOXA13
|
[NCBI]
|
0.000178472
|
|
|
BBS
|
[NCBI]
|
0.000178407
|
|
|
FLNA
|
[NCBI]
|
0.000178321
|
|
|
HLXB9
|
[NCBI]
|
0.000177926
|
|
|
GSCL
|
[NCBI]
|
0.000177926
|
|
|
SMMCI
|
[NCBI]
|
0.000174736
|
|
|
PAX3
|
[NCBI]
|
0.00017324
|
|
|
gordon syndrome
|
[NCBI]
|
0.000173159
|
|
|
cutis gyrata syndrome of beare and stevenson
|
[NCBI]
|
0.000171375
|
|
|
acrorenal-mandibular syndrome
|
[NCBI]
|
0.000171375
|
|
|
GCS1
|
[NCBI]
|
0.000171375
|
|
|
jejunal atresia with microcephaly and ocular anomalies
|
[NCBI]
|
0.000171375
|
|
|
camptomelic syndrome, long-limb type
|
[NCBI]
|
0.000171375
|
|
|
barber-say syndrome
|
[NCBI]
|
0.000171375
|
|
|
MKS3
|
[NCBI]
|
0.000171375
|
|
|
hunter-mcalpine craniosynostosis syndrome
|
[NCBI]
|
0.000171375
|
|
|
scalp-ear-nipple syndrome
|
[NCBI]
|
0.000171375
|
|
|
hemangiomas, cavernous, of face and supraumbilical midline raphe
|
[NCBI]
|
0.000171375
|
|
|
pterygia, mental retardation, and distinctive craniofacial features
|
[NCBI]
|
0.000171375
|
|
|
asplenia with cardiovascular anomalies
|
[NCBI]
|
0.00016816
|
|
|
POMT1
|
[NCBI]
|
0.000167832
|
|
|
HPE2
|
[NCBI]
|
0.000167068
|
|
|
corpus callosum, agenesis of
|
[NCBI]
|
0.00016645
|
|
|
TTDN1
|
[NCBI]
|
0.000164894
|
|
|
ATRX
|
[NCBI]
|
0.000159098
|
|
|
stuve-wiedemann syndrome
|
[NCBI]
|
0.000159039
|
|
|
codas syndrome
|
[NCBI]
|
0.000158467
|
|
|
humeroradial synostosis
|
[NCBI]
|
0.000158467
|
|
|
alopecia-contractures-dwarfism mental retardation syndrome
|
[NCBI]
|
0.000158467
|
|
|
neurofaciodigitorenal syndrome
|
[NCBI]
|
0.000158467
|
|
|
acrocephalopolydactylous dysplasia
|
[NCBI]
|
0.000158467
|
|
|
aarskog syndrome
|
[NCBI]
|
0.000158467
|
|
|
retinopathy, pigmentary, and mental retardation
|
[NCBI]
|
0.000158467
|
|
|
brachial amelia, forebrain defects, and facial clefts
|
[NCBI]
|
0.000158467
|
|
|
carnevale syndrome
|
[NCBI]
|
0.000158467
|
|
|
coloboma, uveal, with cleft lip and palate and mental retardation
|
[NCBI]
|
0.000158467
|
|
|
otofaciocervical syndrome
|
[NCBI]
|
0.000158467
|
|
|
hutterite cerebroosteonephrodysplasia syndrome
|
[NCBI]
|
0.000158467
|
|
|
genitopalatocardiac syndrome
|
[NCBI]
|
0.000158467
|
|
|
BDA6
|
[NCBI]
|
0.000158467
|
|
|
multiple pterygium syndrome, aslan type
|
[NCBI]
|
0.000158467
|
|
|
lissencephaly type iii and bone dysplasia
|
[NCBI]
|
0.000158467
|
|
|
tetra-amelia, x-linked
|
[NCBI]
|
0.000158467
|
|
|
mental retardation, buenos aires type
|
[NCBI]
|
0.000158467
|
|
|
NHS
|
[NCBI]
|
0.000155399
|
|
|
GRB10
|
[NCBI]
|
0.000155399
|
|
|
SOX2
|
[NCBI]
|
0.000155332
|
|
|
SDS
|
[NCBI]
|
0.000155324
|
|
|
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
[NCBI]
|
0.000154946
|
|
|
char syndrome
|
[NCBI]
|
0.000154946
|
|
|
SNX3
|
[NCBI]
|
0.000152036
|
|
|
MKS1
|
[NCBI]
|
0.000152036
|
|
|
DLX3
|
[NCBI]
|
0.000152036
|
|
|
PQBP1
|
[NCBI]
|
0.000151802
|
|
|
NSD1
|
[NCBI]
|
0.000151802
|
|
|
marshall syndrome
|
[NCBI]
|
0.000151733
|
|
|
weyers ulnar ray/oligodactyly syndrome
|
[NCBI]
|
0.000150659
|
|
|
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
[NCBI]
|
0.000150659
|
|
|
weyers acrofacial dysostosis
|
[NCBI]
|
0.000150659
|
|
|
AIHHT
|
[NCBI]
|
0.000150659
|
|
|
TRPS3
|
[NCBI]
|
0.000150659
|
|
|
BRRS
|
[NCBI]
|
0.000148937
|
|
|
MID1
|
[NCBI]
|
0.000147857
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
0.000147857
|
|
|
polycystic kidneys
|
[NCBI]
|
0.000146118
|
|
|
HRD
|
[NCBI]
|
0.000145082
|
|
|
KCS
|
[NCBI]
|
0.000145082
|
|
|
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
|
[NCBI]
|
0.000145082
|
|
|
DMC
|
[NCBI]
|
0.000145037
|
|
|
AAAS
|
[NCBI]
|
0.000141581
|
|
|
NS1
|
[NCBI]
|
0.000141556
|
|
|
pierre robin sequence with pectus excavatum and rib and scapular anomalies
|
[NCBI]
|
0.000141496
|
|
|
epiphyseal dysplasia, microcephaly, and nystagmus
|
[NCBI]
|
0.000141496
|
|
|
OFD9
|
[NCBI]
|
0.000141496
|
|
|
hypertrichosis universalis
|
[NCBI]
|
0.000141496
|
|
|
femur, unilateral bifid, with monodactylous ectrodactyly
|
[NCBI]
|
0.000141496
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
0.00014077
|
|
|
GJA1
|
[NCBI]
|
0.000139862
|
|
|
PAFAH1B1
|
[NCBI]
|
0.00013984
|
|
|
waardenburg-shah syndrome
|
[NCBI]
|
0.000138863
|
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome
|
[NCBI]
|
0.000138455
|
|
|
BLM
|
[NCBI]
|
0.000137326
|
|
|
OD
|
[NCBI]
|
0.00013651
|
|
|
diabetes mellitus, transient neonatal, 1
|
[NCBI]
|
0.00013651
|
|
|
chromosome 22q13.3 deletion syndrome
|
[NCBI]
|
0.000136457
|
|
|
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
|
[NCBI]
|
0.000135711
|
|
|
TTDN1
|
[NCBI]
|
0.000135711
|
|
|
keutel syndrome
|
[NCBI]
|
0.000135711
|
|
|
monosomy 1p36 syndrome
|
[NCBI]
|
0.000135711
|
|
|
STL2
|
[NCBI]
|
0.000135711
|
|
|
valproate embryopathy, susceptibility to
|
[NCBI]
|
0.000135711
|
|
|
MGS
|
[NCBI]
|
0.000132394
|
|
|
HFH
|
[NCBI]
|
0.000132394
|
|
|
histiocytosis with joint contractures and sensorineural deafness
|
[NCBI]
|
0.000132394
|
|
|
angioma serpiginosum, x-linked
|
[NCBI]
|
0.000132394
|
|
|
membranous cranial ossification, delayed
|
[NCBI]
|
0.000132394
|
|
|
breast cancer, 11-22 translocation associated
|
[NCBI]
|
0.000132394
|
|
|
knobloch syndrome, type ii
|
[NCBI]
|
0.000132394
|
|
|
MRSD
|
[NCBI]
|
0.000132394
|
|
|
acromicric dysplasia
|
[NCBI]
|
0.000132394
|
|
|
SCAR5
|
[NCBI]
|
0.000132394
|
|
|
synostosis, carpal, with dysplastic elbow joints and brachydactyly
|
[NCBI]
|
0.000132394
|
|
|
HHG
|
[NCBI]
|
0.000132394
|
|
|
humeroradial synostosis
|
[NCBI]
|
0.000132394
|
|
|
alopecia, psychomotor epilepsy, pyorrhea, and mental subnormality
|
[NCBI]
|
0.000132394
|
|
|
lelis syndrome
|
[NCBI]
|
0.000132394
|
|
|
CORD1
|
[NCBI]
|
0.000132394
|
|
|
polysyndactyly, crossed
|
[NCBI]
|
0.000132394
|
|
|
cryptophthalmos, unilateral or bilateral, isolated
|
[NCBI]
|
0.000132394
|
|
|
fibromatosis, gingival, with progressive deafness
|
[NCBI]
|
0.000132394
|
|
|
atresia of external auditory canal and conduction deafness
|
[NCBI]
|
0.000132394
|
|
|
spastic diplegia, infantile type
|
[NCBI]
|
0.000132394
|
|
|
preauricular fistulae, congenital
|
[NCBI]
|
0.000132394
|
|
|
MCOPCT1
|
[NCBI]
|
0.000132394
|
|
|
HIC1
|
[NCBI]
|
0.000131487
|
|
|
CDLS1
|
[NCBI]
|
0.000131018
|
|
|
CUL4B
|
[NCBI]
|
0.000129737
|
|
|
LDS
|
[NCBI]
|
0.000128804
|
|
|
WZS
|
[NCBI]
|
0.000128804
|
|
|
PRL
|
[NCBI]
|
0.000128691
|
|
|
HRAS
|
[NCBI]
|
0.000126941
|
|
|
PTH
|
[NCBI]
|
0.000126753
|
|
|
lujan-fryns syndrome
|
[NCBI]
|
0.000123948
|
|
|
situs inversus viscerum
|
[NCBI]
|
0.000123948
|
|
|
RTD
|
[NCBI]
|
0.000122832
|
|
|
RHS
|
[NCBI]
|
0.000122832
|
|
|
brachycephaly, deafness, cataract, microstomia, and mental retardation
|
[NCBI]
|
0.000122639
|
|
|
LIS2
|
[NCBI]
|
0.000122639
|
|
|
furlong syndrome: fs
|
[NCBI]
|
0.000122639
|
|
|
say syndrome
|
[NCBI]
|
0.000122639
|
|
|
ivic syndrome
|
[NCBI]
|
0.000122639
|
|
|
MCOPS8
|
[NCBI]
|
0.000122639
|
|
|
craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
|
[NCBI]
|
0.000122639
|
|
|
weill-marchesani syndrome, autosomal dominant
|
[NCBI]
|
0.000122639
|
|
|
simpson-golabi-behmel syndrome, type 2
|
[NCBI]
|
0.000122639
|
|
|
PTLS
|
[NCBI]
|
0.000122639
|
|
|
COL11A1
|
[NCBI]
|
0.000120083
|
|
|
EGFR
|
[NCBI]
|
0.000119585
|
|
|
YWHAE
|
[NCBI]
|
0.000118707
|
|
|
ATD1
|
[NCBI]
|
0.000117782
|
|
|
AT
|
[NCBI]
|
0.000116592
|
|
|
PFM
|
[NCBI]
|
0.00011571
|
|
|
EGF
|
[NCBI]
|
0.000115228
|
|
|
PAX6
|
[NCBI]
|
0.000114548
|
|
|
catel-manzke syndrome
|
[NCBI]
|
0.000114249
|
|
|
whistling face syndrome, recessive form
|
[NCBI]
|
0.000114249
|
|
|
EBP
|
[NCBI]
|
0.000114026
|
|
|
MNS
|
[NCBI]
|
0.000113767
|
|
|
DGCR14
|
[NCBI]
|
0.000110876
|
|
|
F7R
|
[NCBI]
|
0.000110876
|
|
|
FOXC1
|
[NCBI]
|
0.000108806
|
|
|
TAZ
|
[NCBI]
|
0.000108806
|
|
|
OFC1
|
[NCBI]
|
0.000107702
|
|
|
KNO
|
[NCBI]
|
0.00010601
|
|
|
mental retardation, x-linked, with short stature, small testes, muscle wasting, and tremor
|
[NCBI]
|
0.00010564
|
|
|
ectodermal dysplasia, trichoodontoonychial type
|
[NCBI]
|
0.00010564
|
|
|
renal dysplasia-limb defects syndrome
|
[NCBI]
|
0.00010564
|
|
|
biliary malformation with renal tubular insufficiency
|
[NCBI]
|
0.00010564
|
|
|
atpaf2 deficiency
|
[NCBI]
|
0.00010564
|
|
|
pterygium colli and mental retardation with facial and digital anomalies
|
[NCBI]
|
0.00010564
|
|
|
hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation
|
[NCBI]
|
0.00010564
|
|
|
spondyloocular syndrome, autosomal recessive
|
[NCBI]
|
0.00010564
|
|
|
OFD7
|
[NCBI]
|
0.00010564
|
|
|
ectrodactyly of lower limbs, congenital heart defect, and micrognathia
|
[NCBI]
|
0.00010564
|
|
|
stratton-parker syndrome
|
[NCBI]
|
0.00010564
|
|
|
MKS4
|
[NCBI]
|
0.00010564
|
|
|
pallister w syndrome
|
[NCBI]
|
0.00010564
|
|
|
short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities
|
[NCBI]
|
0.00010564
|
|
|
pierre robin syndrome and oligodactyly
|
[NCBI]
|
0.00010564
|
|
|
caudal duplication anomaly
|
[NCBI]
|
0.00010564
|
|
|
ulnar ray dysgenesis with postaxial polydactyly and renal cystic dysplasia
|
[NCBI]
|
0.00010564
|
|
|
CLSD
|
[NCBI]
|
0.00010564
|
|
|
thymic-renal-anal-lung dysplasia
|
[NCBI]
|
0.00010564
|
|
|
nasodigitoacoustic syndrome
|
[NCBI]
|
0.00010564
|
|
|
tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
|
[NCBI]
|
0.00010564
|
|
|
teebi-shaltout syndrome
|
[NCBI]
|
0.00010564
|
|
|
cerebrofacioarticular syndrome
|
[NCBI]
|
0.00010564
|
|
|
JBTS6
|
[NCBI]
|
0.00010564
|
|
|
sebaceous nevus syndrome and hemimegalencephaly
|
[NCBI]
|
0.00010564
|
|
|
tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities
|
[NCBI]
|
0.00010564
|
|
|
pelviscapular dysplasia
|
[NCBI]
|
0.00010564
|
|
|
holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate
|
[NCBI]
|
0.00010564
|
|
|
acrofrontofacionasal dysostosis syndrome
|
[NCBI]
|
0.00010564
|
|
|
radial aplasia, x-linked
|
[NCBI]
|
0.00010564
|
|
|
mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism
|
[NCBI]
|
0.00010564
|
|
|
craniosynostosis with fibular aplasia
|
[NCBI]
|
0.00010564
|
|
|
hirsutism--skeletal dysplasia--mental retardation syndrome
|
[NCBI]
|
0.00010564
|
|
|
situs inversus totalis with cystic dysplasia of kidneys and pancreas
|
[NCBI]
|
0.00010564
|
|
|
faciocardiorenal syndrome
|
[NCBI]
|
0.00010564
|
|
|
holoprosencephaly with fetal akinesia/hypokinesia sequence
|
[NCBI]
|
0.00010564
|
|
|
asplenia with cystic liver, kidney, and pancreas
|
[NCBI]
|
0.00010564
|
|
|
crane-heise syndrome
|
[NCBI]
|
0.00010564
|
|
|
polysyndactyly with cardiac malformation
|
[NCBI]
|
0.00010564
|
|
|
craniosynostosis-mental retardation syndrome of lin and gettig
|
[NCBI]
|
0.00010564
|
|
|
hernia, anterior diaphragmatic
|
[NCBI]
|
0.00010564
|
|
|
external auditory canal, bilateral atresia of, with congenital vertical talus
|
[NCBI]
|
0.00010564
|
|
|
contractures, congenital, torticollis, and malignant hyperthermia
|
[NCBI]
|
0.00010564
|
|
|
meacham syndrome
|
[NCBI]
|
0.00010564
|
|
|
aniridia, partial, with unilateral renal agenesis and psychomotor retardation
|
[NCBI]
|
0.00010564
|
|
|
mcdonough syndrome
|
[NCBI]
|
0.00010564
|
|
|
cleft palate, cardiac defect, genital anomalies, and ectrodactyly
|
[NCBI]
|
0.00010564
|
|
|
NSX
|
[NCBI]
|
0.00010564
|
|
|
microcephaly and digital abnormalities with normal intelligence
|
[NCBI]
|
0.00010564
|
|
|
edinburgh malformation syndrome
|
[NCBI]
|
0.00010564
|
|
|
ectrodactyly-cleft palate syndrome
|
[NCBI]
|
0.00010564
|
|
|
eyebrows, duplication of, with stretchable skin and syndactyly
|
[NCBI]
|
0.00010564
|
|
|
limb deficiencies, distal, with micrognathia
|
[NCBI]
|
0.00010564
|
|
|
OAFNS
|
[NCBI]
|
0.00010564
|
|
|
dextrocardia with unusual facies and microphthalmia
|
[NCBI]
|
0.00010564
|
|
|
epiphyseal dysplasia, multiple, with myopia and conductive deafness
|
[NCBI]
|
0.00010564
|
|
|
splenogonadal fusion with limb defects and micrognathia
|
[NCBI]
|
0.000105188
|
|
|
progeroid short stature with pigmented nevi
|
[NCBI]
|
0.000105188
|
|
|
uniparental disomy, paternal, chromosome 14
|
[NCBI]
|
0.000105188
|
|
|
iris coloboma with ptosis, hypertelorism, and mental retardation
|
[NCBI]
|
0.000105188
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
0.000105188
|
|
|
aprosencephaly syndrome
|
[NCBI]
|
0.000105188
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
0.000104808
|
|
|
TBCE
|
[NCBI]
|
0.000104759
|
|
|
FANCB
|
[NCBI]
|
0.000104759
|
|
|
SCS
|
[NCBI]
|
0.000104745
|
|
|
UFS
|
[NCBI]
|
0.000104091
|
|
|
WAS
|
[NCBI]
|
0.000103742
|
|
|
ZNF136
|
[NCBI]
|
0.000101346
|
|
|
EHMT1
|
[NCBI]
|
0.000101346
|
|
|
ZNF154
|
[NCBI]
|
0.000101346
|
|
|
HYLS1
|
[NCBI]
|
0.000101346
|
|
|
KPNA2
|
[NCBI]
|
0.000101346
|
|
|
ZNF138
|
[NCBI]
|
0.000101346
|
|
|
ZNF133
|
[NCBI]
|
0.000101346
|
|
|
ZKSCAN1
|
[NCBI]
|
0.000101346
|
|
|
ZNF140
|
[NCBI]
|
0.000101346
|
|
|
ZNF134
|
[NCBI]
|
0.000101346
|
|
|
ZNF142
|
[NCBI]
|
0.000101346
|
|
|
ZNF151
|
[NCBI]
|
0.000101346
|
|
|
KCNJ12
|
[NCBI]
|
0.000101346
|
|
|
ZNF131
|
[NCBI]
|
0.000101346
|
|
|
ZNF155
|
[NCBI]
|
0.000101346
|
|
|
ZNF135
|
[NCBI]
|
0.000101346
|
|
|
ZNF143
|
[NCBI]
|
0.000101346
|
|
|
ZNF132
|
[NCBI]
|
0.000101346
|
|
|
SEC23A
|
[NCBI]
|
0.000101346
|
|
|
ZNF137
|
[NCBI]
|
0.000101346
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
0.00010075
|
|
|
septooptic dysplasia
|
[NCBI]
|
9.99864e-05
|
|
|
LDHB
|
[NCBI]
|
9.97288e-05
|
|
|
AHI1
|
[NCBI]
|
9.97288e-05
|
|
|
JWS
|
[NCBI]
|
9.88609e-05
|
|
|
donohue syndrome
|
[NCBI]
|
9.84605e-05
|
|
|
epidermolysis bullosa with pyloric atresia
|
[NCBI]
|
9.84605e-05
|
|
|
GFAP
|
[NCBI]
|
9.76586e-05
|
|
|
TRPS1
|
[NCBI]
|
9.54542e-05
|
|
|
MKKS
|
[NCBI]
|
9.54542e-05
|
|
|
PXE
|
[NCBI]
|
9.42355e-05
|
|
|
chromosome 18p deletion syndrome
|
[NCBI]
|
9.29549e-05
|
|
|
cleft lip/palate with abnormal thumbs and microcephaly
|
[NCBI]
|
9.29549e-05
|
|
|
chorioretinal dysplasia-microcephaly-mental retardation syndrome
|
[NCBI]
|
9.29549e-05
|
|
|
desmosterolosis
|
[NCBI]
|
9.29549e-05
|
|
|
cleft, median, of upper lip with polyps of facial skin and nasal mucosa
|
[NCBI]
|
9.29549e-05
|
|
|
tibial hemimelia
|
[NCBI]
|
9.29549e-05
|
|
|
pelvis-shoulder dysplasia
|
[NCBI]
|
9.29549e-05
|
|
|
native american myopathy
|
[NCBI]
|
9.29549e-05
|
|
|
cerebellotrigeminal dermal dysplasia
|
[NCBI]
|
9.29549e-05
|
|
|
isotretinoin embryopathy-like syndrome
|
[NCBI]
|
9.29549e-05
|
|
|
SHFM4
|
[NCBI]
|
9.29549e-05
|
|
|
zunich neuroectodermal syndrome
|
[NCBI]
|
9.29549e-05
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
9.256e-05
|
|
|
WS3
|
[NCBI]
|
9.256e-05
|
|
|
NBS1
|
[NCBI]
|
9.00431e-05
|
|
|
PJS
|
[NCBI]
|
8.85851e-05
|
|
|
CEP290
|
[NCBI]
|
8.84498e-05
|
|
|
masa syndrome
|
[NCBI]
|
8.74444e-05
|
|
|
three m syndrome
|
[NCBI]
|
8.69383e-05
|
|
|
RENS1
|
[NCBI]
|
8.69383e-05
|
|
|
CRS1
|
[NCBI]
|
8.69383e-05
|
|
|
DCX
|
[NCBI]
|
8.55032e-05
|
|
|
autism
|
[NCBI]
|
8.49817e-05
|
|
|
stomatocytosis i
|
[NCBI]
|
8.47548e-05
|
|
|
ruvalcaba syndrome
|
[NCBI]
|
8.35157e-05
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
8.35157e-05
|
|
|
MSS
|
[NCBI]
|
8.3148e-05
|
|
|
DLL3
|
[NCBI]
|
8.28339e-05
|
|
|
WHSC2
|
[NCBI]
|
8.24249e-05
|
|
|
LETM1
|
[NCBI]
|
8.24249e-05
|
|
|
SEMA3E
|
[NCBI]
|
8.24249e-05
|
|
|
STRA6
|
[NCBI]
|
8.24249e-05
|
|
|
ZNF148
|
[NCBI]
|
8.24249e-05
|
|
|
CLTCL1
|
[NCBI]
|
8.24249e-05
|
|
|
NGFB
|
[NCBI]
|
8.22627e-05
|
|
|
potocki-shaffer syndrome
|
[NCBI]
|
8.18733e-05
|
|
|
DA2B
|
[NCBI]
|
8.18733e-05
|
|
|
WS2A
|
[NCBI]
|
8.18733e-05
|
|
|
pfeiffer syndrome
|
[NCBI]
|
8.04741e-05
|
|
|
SHOX
|
[NCBI]
|
7.87526e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
7.87526e-05
|
|
|
CHS
|
[NCBI]
|
7.7947e-05
|
|
|
AR
|
[NCBI]
|
7.62598e-05
|
|
|
LRP2
|
[NCBI]
|
7.60719e-05
|
|
|
intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked
|
[NCBI]
|
7.58487e-05
|
|
|
gastroschisis
|
[NCBI]
|
7.58487e-05
|
|
|
BDE
|
[NCBI]
|
7.58487e-05
|
|
|
WARBM
|
[NCBI]
|
7.58487e-05
|
|
|
digeorge syndrome/velocardiofacial syndrome spectrum of malformation 2
|
[NCBI]
|
7.58088e-05
|
|
|
HCH
|
[NCBI]
|
7.54469e-05
|
|
|
GEMSS
|
[NCBI]
|
7.53208e-05
|
|
|
brachydactyly-ectrodactyly with fibular aplasia or hypoplasia
|
[NCBI]
|
7.53208e-05
|
|
|
crisponi syndrome
|
[NCBI]
|
7.53208e-05
|
|
|
gastrointestinal abnormalities, multiple
|
[NCBI]
|
7.53208e-05
|
|
|
aortic aneurysm, giant congenital
|
[NCBI]
|
7.53208e-05
|
|
|
nicolaides-baraitser syndrome
|
[NCBI]
|
7.53208e-05
|
|
|
microduplication 22q11.2
|
[NCBI]
|
7.53208e-05
|
|
|
limb defects, distal transverse, with mental retardation and spasticity
|
[NCBI]
|
7.53208e-05
|
|
|
fountain syndrome
|
[NCBI]
|
7.53208e-05
|
|
|
ichthyosis--cheek--eyebrow syndrome
|
[NCBI]
|
7.53208e-05
|
|
|
preaxial deficiency, postaxial polydactyly, and hypospadias
|
[NCBI]
|
7.53208e-05
|
|
|
acrorenal syndrome, autosomal recessive
|
[NCBI]
|
7.53208e-05
|
|
|
fetal akinesia syndrome, x-linked
|
[NCBI]
|
7.53208e-05
|
|
|
gorlin-chaudhry-moss syndrome
|
[NCBI]
|
7.53208e-05
|
|
|
cree mental retardation syndrome
|
[NCBI]
|
7.53208e-05
|
|
|
split-hand with congenital nystagmus, fundal changes, and cataracts
|
[NCBI]
|
7.53208e-05
|
|
|
camera-marugo-cohen syndrome
|
[NCBI]
|
7.53208e-05
|
|
|
alopecia-mental retardation syndrome with convulsions and hypergonadotropic hypogonadism
|
[NCBI]
|
7.53208e-05
|
|
|
split-foot deformity with mandibulofacial dysostosis
|
[NCBI]
|
7.53208e-05
|
|
|
lowry-maclean syndrome
|
[NCBI]
|
7.53208e-05
|
|
|
acrofrontofacionasal dysostosis, severe
|
[NCBI]
|
7.53208e-05
|
|
|
fitzsimmons-guilbert syndrome
|
[NCBI]
|
7.53208e-05
|
|
|
retinohepatoendocrinologic syndrome
|
[NCBI]
|
7.53208e-05
|
|
|
agonadism with multiple internal malformations
|
[NCBI]
|
7.53208e-05
|
|
|
myopathy, congenital nonprogressive, with moebius sequence and robin sequence
|
[NCBI]
|
7.53208e-05
|
|
|
omphalocele, diaphragmatic hernia, and radial ray defects
|
[NCBI]
|
7.53208e-05
|
|
|
al-gazali syndrome
|
[NCBI]
|
7.53208e-05
|
|
|
fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
|
[NCBI]
|
7.53208e-05
|
|
|
RTT
|
[NCBI]
|
7.51286e-05
|
|
|
TBX1
|
[NCBI]
|
7.41372e-05
|
|
|
FAM20C
|
[NCBI]
|
7.39064e-05
|
|
|
SIX6
|
[NCBI]
|
7.39064e-05
|
|
|
VPS33B
|
[NCBI]
|
7.39064e-05
|
|
|
BCOR
|
[NCBI]
|
7.39064e-05
|
|
|
COL2A1
|
[NCBI]
|
7.38569e-05
|
|
|
TSD
|
[NCBI]
|
7.35107e-05
|
|
|
CD
|
[NCBI]
|
7.35017e-05
|
|
|
alpha-thalassemia/mental retardation syndrome, deletion-type
|
[NCBI]
|
7.30673e-05
|
|
|
BOS1
|
[NCBI]
|
7.30673e-05
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
7.22115e-05
|
|
|
facial ectodermal dysplasia
|
[NCBI]
|
7.22115e-05
|
|
|
frontofacionasal dysostosis
|
[NCBI]
|
7.07163e-05
|
|
|
anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
|
[NCBI]
|
7.07163e-05
|
|
|
spondylodysplasia with pure brachyolmia
|
[NCBI]
|
7.07163e-05
|
|
|
volvulus of midgut
|
[NCBI]
|
7.07163e-05
|
|
|
MHAC
|
[NCBI]
|
7.07163e-05
|
|
|
chudley-mccullough syndrome
|
[NCBI]
|
7.07163e-05
|
|
|
EPV
|
[NCBI]
|
7.07163e-05
|
|
|
cerebellar atrophy with progressive microcephaly
|
[NCBI]
|
7.07163e-05
|
|
|
van der woude syndrome modifier
|
[NCBI]
|
7.07163e-05
|
|
|
WS2B
|
[NCBI]
|
7.07163e-05
|
|
|
split-hand/foot malformation with sensorineural hearing loss
|
[NCBI]
|
7.07163e-05
|
|
|
aase-smith syndrome i
|
[NCBI]
|
7.07163e-05
|
|
|
triphalangeal thumbs with brachyectrodactyly
|
[NCBI]
|
7.07163e-05
|
|
|
branchiootic syndrome 2
|
[NCBI]
|
7.07163e-05
|
|
|
FOXL2
|
[NCBI]
|
7.06295e-05
|
|
|
ZS
|
[NCBI]
|
7.02122e-05
|
|
|
LIS1
|
[NCBI]
|
6.94142e-05
|
|
|
OPPG
|
[NCBI]
|
6.92e-05
|
|
|
IP
|
[NCBI]
|
6.8887e-05
|
|
|
FGFR1
|
[NCBI]
|
6.87327e-05
|
|
|
MED12
|
[NCBI]
|
6.80777e-05
|
|
|
PMX1
|
[NCBI]
|
6.80777e-05
|
|
|
ESCO2
|
[NCBI]
|
6.80777e-05
|
|
|
PHF6
|
[NCBI]
|
6.80777e-05
|
|
|
EYA1
|
[NCBI]
|
6.75168e-05
|
|
|
ATR
|
[NCBI]
|
6.60834e-05
|
|
|
PTCH1
|
[NCBI]
|
6.60834e-05
|
|
|
AHDS
|
[NCBI]
|
6.56268e-05
|
|
|
chondrodysplasia, grebe type
|
[NCBI]
|
6.38892e-05
|
|
|
MYH8
|
[NCBI]
|
6.36253e-05
|
|
|
ETFDH
|
[NCBI]
|
6.36253e-05
|
|
|
NSDHL
|
[NCBI]
|
6.36253e-05
|
|
|
andersen cardiodysrhythmic periodic paralysis
|
[NCBI]
|
6.32689e-05
|
|
|
CDPX1
|
[NCBI]
|
6.23115e-05
|
|
|
stapes ankylosis with broad thumb and toes
|
[NCBI]
|
6.19657e-05
|
|
|
robin sequence with cleft mandible and limb anomalies
|
[NCBI]
|
6.19657e-05
|
|
|
tetra-amelia, autosomal recessive
|
[NCBI]
|
6.19657e-05
|
|
|
gurrieri syndrome
|
[NCBI]
|
6.19657e-05
|
|
|
gonadal agenesis
|
[NCBI]
|
6.19657e-05
|
|
|
coloboma of macula with type b brachydactyly
|
[NCBI]
|
6.19657e-05
|
|
|
branchial arch syndrome, x-linked
|
[NCBI]
|
6.19657e-05
|
|
|
anal atresia, hypospadias, and penoscrotal inversion
|
[NCBI]
|
6.19657e-05
|
|
|
coach syndrome
|
[NCBI]
|
6.19657e-05
|
|
|
heterotaxy, visceral, 2, autosomal
|
[NCBI]
|
6.19657e-05
|
|
|
monosomy 9p syndrome
|
[NCBI]
|
6.19657e-05
|
|
|
axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
|
[NCBI]
|
6.19657e-05
|
|
|
hearing loss, sensorineural, with enamel hypoplasia and nail defects
|
[NCBI]
|
6.19657e-05
|
|
|
oculopalatoskeletal syndrome
|
[NCBI]
|
6.19657e-05
|
|
|
TGFBR2
|
[NCBI]
|
6.10029e-05
|
|
|
EIF2AK3
|
[NCBI]
|
6.002e-05
|
|
|
SHANK3
|
[NCBI]
|
6.002e-05
|
|
|
FLNB
|
[NCBI]
|
6.002e-05
|
|
|
CRLF1
|
[NCBI]
|
6.002e-05
|
|
|
SKI
|
[NCBI]
|
6.002e-05
|
|
|
BUB1B
|
[NCBI]
|
6.002e-05
|
|
|
ERCC2
|
[NCBI]
|
5.98692e-05
|
|
|
TTDP
|
[NCBI]
|
5.92241e-05
|
|
|
SCZD4
|
[NCBI]
|
5.90642e-05
|
|
|
OSMED
|
[NCBI]
|
5.90642e-05
|
|
|
noonan-like/multiple giant cell lesion syndrome
|
[NCBI]
|
5.90642e-05
|
|
|
omphalocele
|
[NCBI]
|
5.90642e-05
|
|
|
FBN1
|
[NCBI]
|
5.80333e-05
|
|
|
RB1
|
[NCBI]
|
5.71456e-05
|
|
|
FGFR3
|
[NCBI]
|
5.71456e-05
|
|
|
MEST
|
[NCBI]
|
5.69914e-05
|
|
|
PAPSS2
|
[NCBI]
|
5.69914e-05
|
|
|
ARSE
|
[NCBI]
|
5.69914e-05
|
|
|
HESX1
|
[NCBI]
|
5.69914e-05
|
|
|
MEG3
|
[NCBI]
|
5.69914e-05
|
|
|
AGS1
|
[NCBI]
|
5.63397e-05
|
|
|
WSS
|
[NCBI]
|
5.47951e-05
|
|
|
wildervanck syndrome
|
[NCBI]
|
5.47951e-05
|
|
|
WHSC1
|
[NCBI]
|
5.43814e-05
|
|
|
FGF10
|
[NCBI]
|
5.43814e-05
|
|
|
ALDH1A2
|
[NCBI]
|
5.43814e-05
|
|
|
HSPG2
|
[NCBI]
|
5.43814e-05
|
|
|
PAX1
|
[NCBI]
|
5.43814e-05
|
|
|
microtia with meatal atresia and conductive deafness
|
[NCBI]
|
5.41511e-05
|
|
|
HTC1
|
[NCBI]
|
5.41511e-05
|
|
|
aniridia, cerebellar ataxia, and mental deficiency
|
[NCBI]
|
5.41511e-05
|
|
|
polydactyly
|
[NCBI]
|
5.29969e-05
|
|
|
pulmonary hypertension, familial persistent, of the newborn
|
[NCBI]
|
5.29969e-05
|
|
|
CDD
|
[NCBI]
|
5.29969e-05
|
|
|
TCPT
|
[NCBI]
|
5.29969e-05
|
|
|
LISX2
|
[NCBI]
|
5.29969e-05
|
|
|
LVNCX
|
[NCBI]
|
5.29969e-05
|
|
|
hypothyroidism, athyroidal, with spiky hair and cleft palate
|
[NCBI]
|
5.29969e-05
|
|
|
PTHS
|
[NCBI]
|
5.29969e-05
|
|
|
ectrodactyly
|
[NCBI]
|
5.29969e-05
|
|
|
recombinant chromosome 8 syndrome
|
[NCBI]
|
5.29969e-05
|
|
|
AVSD2
|
[NCBI]
|
5.29969e-05
|
|
|
UVS
|
[NCBI]
|
5.29969e-05
|
|
|
femur-fibula-ulna syndrome
|
[NCBI]
|
5.29969e-05
|
|
|
craniosynostosis with anomalies of the cranial base and digits
|
[NCBI]
|
5.28178e-05
|
|
|
microcephaly-deafness syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
anonychia, total, with microcephaly
|
[NCBI]
|
5.28178e-05
|
|
|
immotile cilia syndrome due to excessively long cilia
|
[NCBI]
|
5.28178e-05
|
|
|
hirschsprung disease with hypoplastic nails and dysmorphic facial features
|
[NCBI]
|
5.28178e-05
|
|
|
brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia
|
[NCBI]
|
5.28178e-05
|
|
|
bifid nose
|
[NCBI]
|
5.28178e-05
|
|
|
dyggve-melchior-clausen syndrome, x-linked
|
[NCBI]
|
5.28178e-05
|
|
|
facial dysmorphism with multiple malformations
|
[NCBI]
|
5.28178e-05
|
|
|
bifid nose, renal agenesis, and anorectal malformations
|
[NCBI]
|
5.28178e-05
|
|
|
finger locking, recurrent, with intrauterine growth retardation and proportionate short stature
|
[NCBI]
|
5.28178e-05
|
|
|
ulnar agenesis and endocardial fibroelastosis
|
[NCBI]
|
5.28178e-05
|
|
|
metaphyseal chondrodysplasia, kaitila type
|
[NCBI]
|
5.28178e-05
|
|
|
ectrodactyly-polydactyly
|
[NCBI]
|
5.28178e-05
|
|
|
brachydactyly, type e, with atrial septal defect, type ii
|
[NCBI]
|
5.28178e-05
|
|
|
preaxial hallucal polydactyly
|
[NCBI]
|
5.28178e-05
|
|
|
fibuloulnar aplasia or hypoplasia with renal abnormalities
|
[NCBI]
|
5.28178e-05
|
|
|
midface hypoplasia, obesity, developmental delay, and neonatal hypotonia
|
[NCBI]
|
5.28178e-05
|
|
|
COFS2
|
[NCBI]
|
5.28178e-05
|
|
|
premature aging syndrome, penttinen type
|
[NCBI]
|
5.28178e-05
|
|
|
frontonasal dysplasia with alar clefts
|
[NCBI]
|
5.28178e-05
|
|
|
otofacioosseous-gonadal syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
rudiger syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
aphalangy with hemivertebrae
|
[NCBI]
|
5.28178e-05
|
|
|
cephalocele, atretic
|
[NCBI]
|
5.28178e-05
|
|
|
facial dysmorphism, selective tooth agenesis, and choroid calcification
|
[NCBI]
|
5.28178e-05
|
|
|
spondyloepiphyseal dysplasia, myopia, and sensorineural deafness
|
[NCBI]
|
5.28178e-05
|
|
|
polydactyly, imperforate anus, and vertebral anomalies
|
[NCBI]
|
5.28178e-05
|
|
|
cleft-limb-heart malformation syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
pulmonary atresia with ventricular septal defect
|
[NCBI]
|
5.28178e-05
|
|
|
growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate
|
[NCBI]
|
5.28178e-05
|
|
|
corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation
|
[NCBI]
|
5.28178e-05
|
|
|
arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
|
[NCBI]
|
5.28178e-05
|
|
|
thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness
|
[NCBI]
|
5.28178e-05
|
|
|
enamel hypoplasia, cataracts, and aqueductal stenosis
|
[NCBI]
|
5.28178e-05
|
|
|
mesoaxial hexadactyly and cardiac malformation
|
[NCBI]
|
5.28178e-05
|
|
|
light fixation seizure syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
facial abnormalities, kyphoscoliosis, and mental retardation
|
[NCBI]
|
5.28178e-05
|
|
|
oculomaxillofacial dysplasia with oblique facial clefts
|
[NCBI]
|
5.28178e-05
|
|
|
amelia, autosomal recessive
|
[NCBI]
|
5.28178e-05
|
|
|
charcot-marie-tooth disease, guadalajara neuronal type
|
[NCBI]
|
5.28178e-05
|
|
|
megaepiphyseal dwarfism
|
[NCBI]
|
5.28178e-05
|
|
|
congenital heart defects, hamartomas of tongue, and polysyndactyly
|
[NCBI]
|
5.28178e-05
|
|
|
dandy-walker malformation with mental retardation, macrocephaly, myopia, and brachytelephalangy
|
[NCBI]
|
5.28178e-05
|
|
|
kapur-toriello syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
crumpled helices and small mouth
|
[NCBI]
|
5.28178e-05
|
|
|
symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch
|
[NCBI]
|
5.28178e-05
|
|
|
cyprus facial neuromusculoskeletal syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
hand and foot deformity with flat facies
|
[NCBI]
|
5.28178e-05
|
|
|
vitiligo, progressive, with mental retardation and urethral duplication
|
[NCBI]
|
5.28178e-05
|
|
|
prune belly syndrome with pulmonic stenosis, mental retardation, and deafness
|
[NCBI]
|
5.28178e-05
|
|
|
microcephaly with digital anomalies
|
[NCBI]
|
5.28178e-05
|
|
|
aprosencephaly and cerebellar dysgenesis
|
[NCBI]
|
5.28178e-05
|
|
|
ulnar hypoplasia with mental retardation
|
[NCBI]
|
5.28178e-05
|
|
|
faciothoracogenital syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
albinism-microcephaly-digital anomalies syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
STQTL9
|
[NCBI]
|
5.28178e-05
|
|
|
cardiac malformation, cleft lip-palate, microcephaly and digital anomalies
|
[NCBI]
|
5.28178e-05
|
|
|
reese retinal dysplasia
|
[NCBI]
|
5.28178e-05
|
|
|
endothelial dystrophy, congenital hereditary, with nail hypoplasia
|
[NCBI]
|
5.28178e-05
|
|
|
laryngotracheal stenosis, progressive, with short stature and arthropathy
|
[NCBI]
|
5.28178e-05
|
|
|
microcornea, glaucoma, and absent frontal sinuses
|
[NCBI]
|
5.28178e-05
|
|
|
HRX
|
[NCBI]
|
5.28178e-05
|
|
|
skeletal dysplasia and progressive central nervous system degeneration, lethal
|
[NCBI]
|
5.28178e-05
|
|
|
palant cleft palate syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
spondyloepimetaphyseal dysplasia, genevieve type
|
[NCBI]
|
5.28178e-05
|
|
|
epithelial squamous dysplasia, keratinizing desquamative, of urinary tract
|
[NCBI]
|
5.28178e-05
|
|
|
polydactyly, postaxial, with progressive myopia
|
[NCBI]
|
5.28178e-05
|
|
|
dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation
|
[NCBI]
|
5.28178e-05
|
|
|
CASS
|
[NCBI]
|
5.28178e-05
|
|
|
cardioskeletal syndrome, kuwaiti type
|
[NCBI]
|
5.28178e-05
|
|
|
spondyloepiphyseal dysplasia tarda with characteristic facies
|
[NCBI]
|
5.28178e-05
|
|
|
cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
|
[NCBI]
|
5.28178e-05
|
|
|
white forelock with malformations
|
[NCBI]
|
5.28178e-05
|
|
|
teeth, noneruption of, with maxillary hypoplasia and genu valgum
|
[NCBI]
|
5.28178e-05
|
|
|
sonoda syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation
|
[NCBI]
|
5.28178e-05
|
|
|
simosa craniofacial syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
oral and digital anomalies with ichthyosis
|
[NCBI]
|
5.28178e-05
|
|
|
brachymesomelia-renal syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
cerebrorenodigital syndrome with limb malformations and triradiate acetabula
|
[NCBI]
|
5.28178e-05
|
|
|
radial hypoplasia, triphalangeal thumbs, hypospadias, and maxillary diastema
|
[NCBI]
|
5.28178e-05
|
|
|
beemer lethal malformation syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
coloboma of macula and skeletal anomalies
|
[NCBI]
|
5.28178e-05
|
|
|
partington-anderson syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
steinfeld syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss
|
[NCBI]
|
5.28178e-05
|
|
|
craniofacial abnormalities, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation
|
[NCBI]
|
5.28178e-05
|
|
|
hydrocephalus with associated malformations
|
[NCBI]
|
5.28178e-05
|
|
|
mental retardation, x-linked, with craniofacial dysmorphism
|
[NCBI]
|
5.28178e-05
|
|
|
mesomelic limb shortening and bowing
|
[NCBI]
|
5.28178e-05
|
|
|
tibia, absence or hypoplasia of, with polydactyly, retrocerebellar arachnoid cyst, and other anomalies
|
[NCBI]
|
5.28178e-05
|
|
|
hallux varus and preaxial polysyndactyly
|
[NCBI]
|
5.28178e-05
|
|
|
arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
|
[NCBI]
|
5.28178e-05
|
|
|
sao paulo mca/mr syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
diaphragmatic defects, limb deficiencies, and ossification defects of skull
|
[NCBI]
|
5.28178e-05
|
|
|
acrofacial dysostosis, palagonia type
|
[NCBI]
|
5.28178e-05
|
|
|
rhyns syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
ptosis, strabismus, and ectopic pupils
|
[NCBI]
|
5.28178e-05
|
|
|
mental retardation, short stature, facial anomalies, and joint dislocations
|
[NCBI]
|
5.28178e-05
|
|
|
cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss
|
[NCBI]
|
5.28178e-05
|
|
|
midline malformations, multiple, with limb abnormalities and hypopituitarism
|
[NCBI]
|
5.28178e-05
|
|
|
exostoses with anetodermia and brachydactyly, type e
|
[NCBI]
|
5.28178e-05
|
|
|
cantu syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
microspherophakia with hernia
|
[NCBI]
|
5.28178e-05
|
|
|
genu valgum, st. helena familial
|
[NCBI]
|
5.28178e-05
|
|
|
camptodactyly syndrome, guadalajara type ii
|
[NCBI]
|
5.28178e-05
|
|
|
microcephaly with cervical spine fusion anomalies
|
[NCBI]
|
5.28178e-05
|
|
|
lissencephaly, familial, with cleft palate and cerebellar hypoplasia
|
[NCBI]
|
5.28178e-05
|
|
|
bile and pancreatic ducts, complete absence of
|
[NCBI]
|
5.28178e-05
|
|
|
cholesterol pneumonia
|
[NCBI]
|
5.28178e-05
|
|
|
split-hand with obstructive uropathy, spina bifida, and diaphragmatic defects
|
[NCBI]
|
5.28178e-05
|
|
|
mental retardation, obesity, mandibular prognathism, and eye and skin anomalies
|
[NCBI]
|
5.28178e-05
|
|
|
deafness, conductive stapedial, with ear malformation and facial palsy
|
[NCBI]
|
5.28178e-05
|
|
|
3-@methylglutaconic aciduria, type v
|
[NCBI]
|
5.28178e-05
|
|
|
median-ulnar nerve communications
|
[NCBI]
|
5.28178e-05
|
|
|
harrod syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness
|
[NCBI]
|
5.28178e-05
|
|
|
cervical ribs, sprengel anomaly, anal atresia, and urethral obstruction
|
[NCBI]
|
5.28178e-05
|
|
|
lymphedema-hypoparathyroidism syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
spinocerebellar ataxia with dysmorphism
|
[NCBI]
|
5.28178e-05
|
|
|
osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures
|
[NCBI]
|
5.28178e-05
|
|
|
anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis
|
[NCBI]
|
5.28178e-05
|
|
|
ectodermal dysplasia with mental retardation and syndactyly
|
[NCBI]
|
5.28178e-05
|
|
|
uruguay faciocardiomusculoskeletal syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation
|
[NCBI]
|
5.28178e-05
|
|
|
schimke x-linked mental retardation syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
arthropathy, erosive
|
[NCBI]
|
5.28178e-05
|
|
|
lambotte syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
COFS4
|
[NCBI]
|
5.28178e-05
|
|
|
megarbane syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
ventricular extrasystoles with syncope, perodactyly, and robin sequence
|
[NCBI]
|
5.28178e-05
|
|
|
robin sequence with distinctive facial appearance and brachydactyly
|
[NCBI]
|
5.28178e-05
|
|
|
atrial septal defect, secundum, with various cardiac and noncardiac defects
|
[NCBI]
|
5.28178e-05
|
|
|
deafness-craniofacial syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
hydrocephalus, endocardial fibroelastosis, and cataracts
|
[NCBI]
|
5.28178e-05
|
|
|
acrocephalopolysyndactyly type iii
|
[NCBI]
|
5.28178e-05
|
|
|
microcephaly, congenital heart disease, unilateral renal agenesis, and hyposegmented lungs
|
[NCBI]
|
5.28178e-05
|
|
|
SERKAL
|
[NCBI]
|
5.28178e-05
|
|
|
cryptomicrotia-brachydactyly syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
brachydactyly, intraventricular septal defect, and deafness
|
[NCBI]
|
5.28178e-05
|
|
|
amaurosis congenita, cone-rod type, with congenital hypertrichosis
|
[NCBI]
|
5.28178e-05
|
|
|
brachymetapody-anodontia-hypotrichosis-albinoidism
|
[NCBI]
|
5.28178e-05
|
|
|
progeroid facial appearance with hand anomalies
|
[NCBI]
|
5.28178e-05
|
|
|
speech development, delayed, with facial asymmetry, strabismus, and transverse earlobe crease
|
[NCBI]
|
5.28178e-05
|
|
|
grant syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
ulnar hypoplasia with lobster-claw deformity of feet
|
[NCBI]
|
5.28178e-05
|
|
|
scarf syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
momo syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification
|
[NCBI]
|
5.28178e-05
|
|
|
renal and mullerian duct hypoplasia
|
[NCBI]
|
5.28178e-05
|
|
|
multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism
|
[NCBI]
|
5.28178e-05
|
|
|
lymphedema, atrial septal defect, and facial changes
|
[NCBI]
|
5.28178e-05
|
|
|
multiple congenital anomalies syndrome with cloverleaf skull
|
[NCBI]
|
5.28178e-05
|
|
|
bird-headed dwarfism, montreal type
|
[NCBI]
|
5.28178e-05
|
|
|
growth and developmental retardation, ocular ptosis, cardiac defect, and anal atresia
|
[NCBI]
|
5.28178e-05
|
|
|
camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
|
[NCBI]
|
5.28178e-05
|
|
|
gonadal dysgenesis, xy type, with associated anomalies
|
[NCBI]
|
5.28178e-05
|
|
|
mental retardation, microcephaly, epilepsy, and coarse face
|
[NCBI]
|
5.28178e-05
|
|
|
agonadism, xy, with mental retardation, short stature, retarded bone age, and multiple extragenital malformations
|
[NCBI]
|
5.28178e-05
|
|
|
anemia, congenital hypoplastic, with multiple congenital anomalies/mental retardation syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
macdermot-winter syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
acrorenal syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
holoprosencephaly, semilobar, with craniosynostosis
|
[NCBI]
|
5.28178e-05
|
|
|
mandibulofacial dysostosis with macroblepharon and macrostomia
|
[NCBI]
|
5.28178e-05
|
|
|
trigonobrachycephaly, bulbous bifid nose, micrognathia, and abnormalities of the hands and feet
|
[NCBI]
|
5.28178e-05
|
|
|
radioulnar synostosis, radial ray abnormalities, and severe malformations in the male
|
[NCBI]
|
5.28178e-05
|
|
|
polydactyly, postaxial, with dental and vertebral anomalies
|
[NCBI]
|
5.28178e-05
|
|
|
ehlers-danlos syndrome, autosomal dominant, type unspecified
|
[NCBI]
|
5.28178e-05
|
|
|
fallot complex with severe mental and growth retardation
|
[NCBI]
|
5.28178e-05
|
|
|
sella turcica, bridged
|
[NCBI]
|
5.28178e-05
|
|
|
phaver syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
hemolytic anemia, lethal congenital nonspherocytic, with genital and other abnormalities
|
[NCBI]
|
5.28178e-05
|
|
|
keratosis follicularis, dwarfism, and cerebral atrophy
|
[NCBI]
|
5.28178e-05
|
|
|
radial ray hypoplasia with choanal atresia
|
[NCBI]
|
5.28178e-05
|
|
|
clavicular hypoplasia, zygomatic arch hypoplasia, and micrognathia
|
[NCBI]
|
5.28178e-05
|
|
|
nasal bones, absence of
|
[NCBI]
|
5.28178e-05
|
|
|
osebold skeletal dysplasia/osteolysis syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
trisomy 18-like syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
facial dysmorphism, cleft palate, hearing loss, and camptodactyly
|
[NCBI]
|
5.28178e-05
|
|
|
cerebral malformation, seizures, hypertrichosis, and overlapping fingers
|
[NCBI]
|
5.28178e-05
|
|
|
scaphocephaly, maxillary retrusion, and mental retardation
|
[NCBI]
|
5.28178e-05
|
|
|
premature aging syndrome, okamoto type
|
[NCBI]
|
5.28178e-05
|
|
|
craniosynostosis, sagittal, with dandy-walker malformation and hydrocephalus
|
[NCBI]
|
5.28178e-05
|
|
|
amastia, bilateral, with ureteral triplication and dysmorphism
|
[NCBI]
|
5.28178e-05
|
|
|
ichthyosis-mental retardation syndrome with large keratohyalin granules in the skin
|
[NCBI]
|
5.28178e-05
|
|
|
chondrodysplasia, lethal, with long bone angulation and mixed bone density
|
[NCBI]
|
5.28178e-05
|
|
|
aortic arch anomaly with peculiar facies and mental retardation
|
[NCBI]
|
5.28178e-05
|
|
|
brachioskeletogenital syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
incisors, lower central, absence of
|
[NCBI]
|
5.28178e-05
|
|
|
emphysema, congenital, with deafness, penoscrotal web, and mental retardation
|
[NCBI]
|
5.28178e-05
|
|
|
aural atresia, multiple congenital anomalies, and mental retardation
|
[NCBI]
|
5.28178e-05
|
|
|
spastic paraplegia, optic atrophy, microcephaly, and xy sex reversal
|
[NCBI]
|
5.28178e-05
|
|
|
chondrodysplasia-pseudohermaphroditism syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
ackerman syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
german syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
wolff mental retardation syndrome
|
[NCBI]
|
5.28178e-05
|
|
|
duodenojejunal atresia with volvulus, absent dorsal mesentery, and absent superior mesenteric artery
|
[NCBI]
|
5.28178e-05
|
|
|
growth retardation, small and puffy hands and feet, and eczema
|
[NCBI]
|
5.28178e-05
|
|
|
metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
|
[NCBI]
|
5.28178e-05
|
|
|
mental retardation, keratoconus, febrile seizures, and sinoatrial block
|
[NCBI]
|
5.28178e-05
|
|
|
laryngeal atresia, encephalocele, and limb deformities
|
[NCBI]
|
5.28178e-05
|
|
|
HPS
|
[NCBI]
|
5.23426e-05
|
|
|
MYO7A
|
[NCBI]
|
5.2211e-05
|
|
|
DNAH11
|
[NCBI]
|
5.20896e-05
|
|
|
HK1
|
[NCBI]
|
5.20896e-05
|
|
|
ATS
|
[NCBI]
|
5.09785e-05
|
|
|
USH1C
|
[NCBI]
|
5.09785e-05
|
|
|
GINGF
|
[NCBI]
|
5.09785e-05
|
|
|
ZNF141
|
[NCBI]
|
5.06675e-05
|
|
|
ATPAF2
|
[NCBI]
|
5.06675e-05
|
|
|
FKBP1A
|
[NCBI]
|
5.06675e-05
|
|
|
PAFAH1B3
|
[NCBI]
|
5.06675e-05
|
|
|
LRPAP1
|
[NCBI]
|
5.06675e-05
|
|
|
SLC7A4
|
[NCBI]
|
5.06675e-05
|
|
|
IDH1
|
[NCBI]
|
5.06675e-05
|
|
|
WWTR1
|
[NCBI]
|
5.06675e-05
|
|
|
NDUFA8
|
[NCBI]
|
5.06675e-05
|
|
|
radial ray deficiency, x-linked
|
[NCBI]
|
5.06675e-05
|
|
|
MTIF2
|
[NCBI]
|
5.06675e-05
|
|
|
SCN3A
|
[NCBI]
|
5.06675e-05
|
|
|
THRAP2
|
[NCBI]
|
5.06675e-05
|
|
|
CD96
|
[NCBI]
|
5.06675e-05
|
|
|
GPR92
|
[NCBI]
|
5.06675e-05
|
|
|
DNAJC19
|
[NCBI]
|
5.06675e-05
|
|
|
DLX2
|
[NCBI]
|
5.06675e-05
|
|
|
CDC14B
|
[NCBI]
|
5.06675e-05
|
|
|
MFAP4
|
[NCBI]
|
5.06675e-05
|
|
|
GUK1
|
[NCBI]
|
5.06675e-05
|
|
|
ataxin-1 ubiquitin-like interacting protein
|
[NCBI]
|
5.06675e-05
|
|
|
SMARCC2
|
[NCBI]
|
5.06675e-05
|
|
|
KLF14
|
[NCBI]
|
5.06675e-05
|
|
|
NT5C
|
[NCBI]
|
5.06675e-05
|
|
|
C7ORF10
|
[NCBI]
|
5.06675e-05
|
|
|
COTL1
|
[NCBI]
|
5.06675e-05
|
|
|
MED12L
|
[NCBI]
|
5.06675e-05
|
|
|
GCN5L2
|
[NCBI]
|
5.06675e-05
|
|
|
CLDN5
|
[NCBI]
|
5.06675e-05
|
|
|
ZW10
|
[NCBI]
|
5.06675e-05
|
|
|
TAOK1
|
[NCBI]
|
5.06675e-05
|
|
|
SFRS7
|
[NCBI]
|
5.06675e-05
|
|
|
C8ORF1
|
[NCBI]
|
5.06675e-05
|
|
|
SPTBN1
|
[NCBI]
|
5.06675e-05
|
|
|
FGD2
|
[NCBI]
|
5.06675e-05
|
|
|
LAP3
|
[NCBI]
|
5.06675e-05
|
|
|
ADAMTS10
|
[NCBI]
|
5.06675e-05
|
|
|
SMARCD2
|
[NCBI]
|
5.06675e-05
|
|
|
MACROD2
|
[NCBI]
|
5.06675e-05
|
|
|
ARVCF
|
[NCBI]
|
5.06675e-05
|
|
|
ZWINT
|
[NCBI]
|
5.06675e-05
|
|
|
KCNMB3
|
[NCBI]
|
5.06675e-05
|
|
|
DNM1L
|
[NCBI]
|
5.06675e-05
|
|
|
RAB3GAP2
|
[NCBI]
|
5.06675e-05
|
|
|
SMARCD1
|
[NCBI]
|
5.06675e-05
|
|
|
SMG6
|
[NCBI]
|
5.06675e-05
|
|
|
NT5M
|
[NCBI]
|
5.06675e-05
|
|
|
ZNF179
|
[NCBI]
|
5.06675e-05
|
|
|
SHMT1
|
[NCBI]
|
5.06675e-05
|
|
|
HOXB6
|
[NCBI]
|
5.06675e-05
|
|
|
KIAA1279
|
[NCBI]
|
5.06675e-05
|
|
|
npl4, s. cerevisiae, homolog of
|
[NCBI]
|
5.06675e-05
|
|
|
mental retardation, x-linked, south african type
|
[NCBI]
|
5.06675e-05
|
|
|
FLRT3
|
[NCBI]
|
5.06675e-05
|
|
|
CECR1
|
[NCBI]
|
5.06675e-05
|
|
|
SMARCC1
|
[NCBI]
|
5.06675e-05
|
|
|
COPS3
|
[NCBI]
|
5.06675e-05
|
|
|
TFAP2B
|
[NCBI]
|
5.0048e-05
|
|
|
PTEN
|
[NCBI]
|
4.87532e-05
|
|
|
AAA
|
[NCBI]
|
4.87086e-05
|
|
|
HHS
|
[NCBI]
|
4.75375e-05
|
|
|
ACG2
|
[NCBI]
|
4.75375e-05
|
|
|
CPT2
|
[NCBI]
|
4.65347e-05
|
|
|
HBZ
|
[NCBI]
|
4.65347e-05
|
|
|
HPE4
|
[NCBI]
|
4.62723e-05
|
|
|
cleft larynx, posterior
|
[NCBI]
|
4.62723e-05
|
|
|
fibromatosis, gingival, with hypertrichosis
|
[NCBI]
|
4.62723e-05
|
|
|
STL3
|
[NCBI]
|
4.62723e-05
|
|
|
clark-baraitser syndrome
|
[NCBI]
|
4.62723e-05
|
|
|
MONA
|
[NCBI]
|
4.62723e-05
|
|
|
gracile bone dysplasia
|
[NCBI]
|
4.62723e-05
|
|
|
MBP
|
[NCBI]
|
4.5463e-05
|
|
|
ITGB4
|
[NCBI]
|
4.50008e-05
|
|
|
KCNJ2
|
[NCBI]
|
4.50008e-05
|
|
|
COL11A2
|
[NCBI]
|
4.50008e-05
|
|
|
WT1
|
[NCBI]
|
4.46514e-05
|
|
|
CTHM
|
[NCBI]
|
4.44133e-05
|
|
|
HPE3
|
[NCBI]
|
4.44133e-05
|
|
|
F12
|
[NCBI]
|
4.35856e-05
|
|
|
PRODH
|
[NCBI]
|
4.35856e-05
|
|
|
HOXD13
|
[NCBI]
|
4.22727e-05
|
|
|
ERCC6
|
[NCBI]
|
4.22727e-05
|
|
|
OPMD
|
[NCBI]
|
4.18724e-05
|
|
|
tetralogy of fallot
|
[NCBI]
|
4.156e-05
|
|
|
PMD
|
[NCBI]
|
4.13577e-05
|
|
|
MSX1
|
[NCBI]
|
4.10486e-05
|
|
|
EHBA
|
[NCBI]
|
4.09293e-05
|
|
|
CAT
|
[NCBI]
|
4.0923e-05
|
|
|
achalasia, familial esophageal
|
[NCBI]
|
4.05719e-05
|
|
|
ACG1A
|
[NCBI]
|
4.05719e-05
|
|
|
RTS
|
[NCBI]
|
3.9616e-05
|
|
|
FOXC2
|
[NCBI]
|
3.8826e-05
|
|
|
GLDC
|
[NCBI]
|
3.8826e-05
|
|
|
oculodentoosseous dysplasia, recessive
|
[NCBI]
|
3.78838e-05
|
|
|
AMMECR1
|
[NCBI]
|
3.78838e-05
|
|
|
costovertebral segmentation anomalies
|
[NCBI]
|
3.78838e-05
|
|
|
onychotrichodysplasia and neutropenia
|
[NCBI]
|
3.78838e-05
|
|
|
dandy-walker malformation with mental retardation, basal ganglia disease, and seizures
|
[NCBI]
|
3.78838e-05
|
|
|
johnson neuroectodermal syndrome
|
[NCBI]
|
3.78838e-05
|
|
|
autism, susceptibility to, 3
|
[NCBI]
|
3.78838e-05
|
|
|
woolly hair, autosomal dominant
|
[NCBI]
|
3.78838e-05
|
|
|
VUR1
|
[NCBI]
|
3.76415e-05
|
|
|
B4GALT7
|
[NCBI]
|
3.69477e-05
|
|
|
P4HA3
|
[NCBI]
|
3.69477e-05
|
|
|
LFNG
|
[NCBI]
|
3.69477e-05
|
|
|
IL17RA
|
[NCBI]
|
3.69477e-05
|
|
|
C20ORF41
|
[NCBI]
|
3.69477e-05
|
|
|
PRRX2
|
[NCBI]
|
3.69477e-05
|
|
|
E2F4
|
[NCBI]
|
3.69477e-05
|
|
|
SMARCD3
|
[NCBI]
|
3.69477e-05
|
|
|
NDUFS7
|
[NCBI]
|
3.69477e-05
|
|
|
DECR1
|
[NCBI]
|
3.69477e-05
|
|
|
UPF3B
|
[NCBI]
|
3.69477e-05
|
|
|
CALB1
|
[NCBI]
|
3.69477e-05
|
|
|
MAP2K2
|
[NCBI]
|
3.69477e-05
|
|
|
SPAG6
|
[NCBI]
|
3.69477e-05
|
|
|
CFC1
|
[NCBI]
|
3.69477e-05
|
|
|
AXIN1
|
[NCBI]
|
3.69477e-05
|
|
|
NDUFB6
|
[NCBI]
|
3.69477e-05
|
|
|
NDUFB9
|
[NCBI]
|
3.69477e-05
|
|
|
RDH10
|
[NCBI]
|
3.69477e-05
|
|
|
RCN1
|
[NCBI]
|
3.69477e-05
|
|
|
CRK
|
[NCBI]
|
3.69477e-05
|
|
|
SLC25A18
|
[NCBI]
|
3.69477e-05
|
|
|
MRX49
|
[NCBI]
|
3.69477e-05
|
|
|
PPM1B
|
[NCBI]
|
3.69477e-05
|
|
|
UBR1
|
[NCBI]
|
3.69477e-05
|
|
|
PFKP
|
[NCBI]
|
3.69477e-05
|
|
|
IGF2BP3
|
[NCBI]
|
3.69477e-05
|
|
|
CECR2
|
[NCBI]
|
3.69477e-05
|
|
|
CLK2
|
[NCBI]
|
3.69477e-05
|
|
|
EOMES
|
[NCBI]
|
3.69477e-05
|
|
|
MYH3
|
[NCBI]
|
3.69477e-05
|
|
|
kiaa0442
|
[NCBI]
|
3.69477e-05
|
|
|
ATP6V0E1
|
[NCBI]
|
3.69477e-05
|
|
|
BRWD3
|
[NCBI]
|
3.69477e-05
|
|
|
HIBCH
|
[NCBI]
|
3.69477e-05
|
|
|
NDUFS1
|
[NCBI]
|
3.69477e-05
|
|
|
AL-A1
|
[NCBI]
|
3.69477e-05
|
|
|
MDH1
|
[NCBI]
|
3.69477e-05
|
|
|
ARIX
|
[NCBI]
|
3.69477e-05
|
|
|
BRWD2
|
[NCBI]
|
3.69477e-05
|
|
|
lipin 3
|
[NCBI]
|
3.69477e-05
|
|
|
HOXA7
|
[NCBI]
|
3.69477e-05
|
|
|
SC5DL
|
[NCBI]
|
3.69477e-05
|
|
|
BARHL1
|
[NCBI]
|
3.69477e-05
|
|
|
DRG2
|
[NCBI]
|
3.69477e-05
|
|
|
BWS
|
[NCBI]
|
3.65294e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
3.6527e-05
|
|
|
arthrogryposis, renal dysfunction, and cholestasis
|
[NCBI]
|
3.65266e-05
|
|
|
hyperpipecolatemia
|
[NCBI]
|
3.65266e-05
|
|
|
polydactyly, postaxial, type a1
|
[NCBI]
|
3.65266e-05
|
|
|
tracheoesophageal fistula with or without esophageal atresia
|
[NCBI]
|
3.65266e-05
|
|
|
boomerang dysplasia
|
[NCBI]
|
3.65266e-05
|
|
|
chondrodysplasia punctata, tibia-metacarpal type
|
[NCBI]
|
3.65266e-05
|
|
|
PCD
|
[NCBI]
|
3.62302e-05
|
|
|
PTPN11
|
[NCBI]
|
3.59412e-05
|
|
|
KFSD
|
[NCBI]
|
3.42934e-05
|
|
|
DNMT3B
|
[NCBI]
|
3.34673e-05
|
|
|
G6PD
|
[NCBI]
|
3.31561e-05
|
|
|
MFS2
|
[NCBI]
|
3.28067e-05
|
|
|
AOII
|
[NCBI]
|
3.28067e-05
|
|
|
naxos disease
|
[NCBI]
|
3.28067e-05
|
|
|
serpentine fibula-polycystic kidney syndrome
|
[NCBI]
|
3.28067e-05
|
|
|
OGD
|
[NCBI]
|
3.28067e-05
|
|
|
acromesomelic dysplasia, hunter-thompson type
|
[NCBI]
|
3.28067e-05
|
|
|
TWIST1
|
[NCBI]
|
3.27161e-05
|
|
|
SOST
|
[NCBI]
|
3.222e-05
|
|
|
GDF5
|
[NCBI]
|
3.19968e-05
|
|
|
SLC25A1
|
[NCBI]
|
3.18072e-05
|
|
|
DSC1
|
[NCBI]
|
3.18072e-05
|
|
|
DYNLL1
|
[NCBI]
|
3.18072e-05
|
|
|
NLGN4
|
[NCBI]
|
3.18072e-05
|
|
|
VSX1
|
[NCBI]
|
3.18072e-05
|
|
|
CRELD1
|
[NCBI]
|
3.18072e-05
|
|
|
ADAMTS1
|
[NCBI]
|
3.18072e-05
|
|
|
MRPS22
|
[NCBI]
|
3.18072e-05
|
|
|
GTF2H5
|
[NCBI]
|
3.18072e-05
|
|
|
LHX3
|
[NCBI]
|
3.18072e-05
|
|
|
SLC4A7
|
[NCBI]
|
3.18072e-05
|
|
|
DLX5
|
[NCBI]
|
3.18072e-05
|
|
|
OTX2
|
[NCBI]
|
3.18072e-05
|
|
|
GPC4
|
[NCBI]
|
3.18072e-05
|
|
|
IDH3G
|
[NCBI]
|
3.18072e-05
|
|
|
GTF2H1
|
[NCBI]
|
3.18072e-05
|
|
|
PAX4
|
[NCBI]
|
3.18072e-05
|
|
|
BMP5
|
[NCBI]
|
3.18072e-05
|
|
|
NDUFS8
|
[NCBI]
|
3.18072e-05
|
|
|
NDUFV1
|
[NCBI]
|
3.18072e-05
|
|
|
NFIA
|
[NCBI]
|
3.18072e-05
|
|
|
CHRNG
|
[NCBI]
|
3.18072e-05
|
|
|
RAB3GAP1
|
[NCBI]
|
3.18072e-05
|
|
|
GNAO1
|
[NCBI]
|
3.18072e-05
|
|
|
ITGA6
|
[NCBI]
|
3.18072e-05
|
|
|
PPA1
|
[NCBI]
|
3.18072e-05
|
|
|
DYM
|
[NCBI]
|
3.18072e-05
|
|
|
PREPL
|
[NCBI]
|
3.18072e-05
|
|
|
DGKD
|
[NCBI]
|
3.18072e-05
|
|
|
ACHE
|
[NCBI]
|
3.14807e-05
|
|
|
AMCN
|
[NCBI]
|
3.11933e-05
|
|
|
arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly
|
[NCBI]
|
3.09808e-05
|
|
|
coxoauricular syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum
|
[NCBI]
|
3.09808e-05
|
|
|
syndactyly, type v
|
[NCBI]
|
3.09808e-05
|
|
|
acrofacial dysostosis, catania type
|
[NCBI]
|
3.09808e-05
|
|
|
aortic arch interruption, facial palsy, and retinal coloboma
|
[NCBI]
|
3.09808e-05
|
|
|
pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies
|
[NCBI]
|
3.09808e-05
|
|
|
cataract-ataxia-deafness-retardation syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
microcephalic primordial dwarfism, toriello type
|
[NCBI]
|
3.09808e-05
|
|
|
renal dysplasia, diffuse cystic
|
[NCBI]
|
3.09808e-05
|
|
|
micromelic dysplasia, congenital, with dislocation of radius
|
[NCBI]
|
3.09808e-05
|
|
|
blepharonasofacial malformation syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
cahmr syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
MCOPCT3
|
[NCBI]
|
3.09808e-05
|
|
|
chromosome 9q subtelomeric deletion syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease
|
[NCBI]
|
3.09808e-05
|
|
|
puerto rican infant hypotonia syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
ectrodactyly and ectodermal dysplasia without cleft lip/palate
|
[NCBI]
|
3.09808e-05
|
|
|
dermoodontodysplasia
|
[NCBI]
|
3.09808e-05
|
|
|
tibia vara
|
[NCBI]
|
3.09808e-05
|
|
|
teeth present at birth
|
[NCBI]
|
3.09808e-05
|
|
|
IS3
|
[NCBI]
|
3.09808e-05
|
|
|
MRXS14
|
[NCBI]
|
3.09808e-05
|
|
|
ataxia-microcephaly-cataract syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
mastocytosis, cutaneous, with short stature, conductive hearing loss and microtia
|
[NCBI]
|
3.09808e-05
|
|
|
platyspondyly with amelogenesis imperfecta
|
[NCBI]
|
3.09808e-05
|
|
|
arthrogryposis, distal, with mental retardation and characteristic facies
|
[NCBI]
|
3.09808e-05
|
|
|
tonoki syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
arthrogryposis, distal, type 2e
|
[NCBI]
|
3.09808e-05
|
|
|
trigonocephaly with short stature and developmental delay
|
[NCBI]
|
3.09808e-05
|
|
|
JBTS4
|
[NCBI]
|
3.09808e-05
|
|
|
dwarfism with stiff joints and ocular abnormalities
|
[NCBI]
|
3.09808e-05
|
|
|
achalasia-microcephaly syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
devriendt syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
telecanthus
|
[NCBI]
|
3.09808e-05
|
|
|
brachyrachia
|
[NCBI]
|
3.09808e-05
|
|
|
spondyloepimetaphyseal dysplasia, shohat type
|
[NCBI]
|
3.09808e-05
|
|
|
craniofacial dysmorphism with ocular coloboma, absent corpus callosum, and aortic dilatation
|
[NCBI]
|
3.09808e-05
|
|
|
spondylometaphyseal dysplasia, east african type
|
[NCBI]
|
3.09808e-05
|
|
|
deafness, congenital, with inner ear agenesis, microtia, and microdontia
|
[NCBI]
|
3.09808e-05
|
|
|
pterygium syndrome, multiple, autosomal dominant
|
[NCBI]
|
3.09808e-05
|
|
|
mental retardation syndrome, mietens-weber type
|
[NCBI]
|
3.09808e-05
|
|
|
temtamy preaxial brachydactyly syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
craniomicromelic syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
b-cell immunodeficiency, distal limb anomalies, and urogenital malformations
|
[NCBI]
|
3.09808e-05
|
|
|
VUR2
|
[NCBI]
|
3.09808e-05
|
|
|
kniest-like dysplasia with pursed lips and ectopia lentis
|
[NCBI]
|
3.09808e-05
|
|
|
fibromatosis, gingival, with hypertrichosis and mental retardation
|
[NCBI]
|
3.09808e-05
|
|
|
second metatarsal-metacarpal syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
hydrocephalus, skeletal anomalies, and mental disturbance
|
[NCBI]
|
3.09808e-05
|
|
|
corpus callosum, agenesis of, with abnormal genitalia
|
[NCBI]
|
3.09808e-05
|
|
|
velofacioskeletal syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
microcephaly-cardiomyopathy
|
[NCBI]
|
3.09808e-05
|
|
|
aredyld
|
[NCBI]
|
3.09808e-05
|
|
|
syndactyly, type iv
|
[NCBI]
|
3.09808e-05
|
|
|
dk phocomelia syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
achondrogenesis, type iii
|
[NCBI]
|
3.09808e-05
|
|
|
beta-hydroxyisobutyryl coa deacylase, deficiency of
|
[NCBI]
|
3.09808e-05
|
|
|
achondrogenesis, type iv
|
[NCBI]
|
3.09808e-05
|
|
|
biemond syndrome ii
|
[NCBI]
|
3.09808e-05
|
|
|
curved nail of fourth toe
|
[NCBI]
|
3.09808e-05
|
|
|
renal, genital, and middle ear anomalies
|
[NCBI]
|
3.09808e-05
|
|
|
ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis
|
[NCBI]
|
3.09808e-05
|
|
|
mental retardation, x-linked, with brachydactyly and macroglossia
|
[NCBI]
|
3.09808e-05
|
|
|
HPE7
|
[NCBI]
|
3.09808e-05
|
|
|
tibia, absence of, with polydactyly
|
[NCBI]
|
3.09808e-05
|
|
|
pancreatic hypoplasia, congenital, with diabetes mellitus and congenital heart disease
|
[NCBI]
|
3.09808e-05
|
|
|
hyper-beta-alaninemia
|
[NCBI]
|
3.09808e-05
|
|
|
MRX93
|
[NCBI]
|
3.09808e-05
|
|
|
craniorhiny
|
[NCBI]
|
3.09808e-05
|
|
|
sener syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
triglyceride storage disease, type ii
|
[NCBI]
|
3.09808e-05
|
|
|
camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
|
[NCBI]
|
3.09808e-05
|
|
|
rombo syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
radial-renal syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
scott craniodigital syndrome with mental retardation
|
[NCBI]
|
3.09808e-05
|
|
|
intrauterine growth retardation with increased mitomycin c sensitivity
|
[NCBI]
|
3.09808e-05
|
|
|
karak syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
chondrodysplasia punctata syndrome
|
[NCBI]
|
3.09808e-05
|
|
|
thoracopelvic dysostosis
|
[NCBI]
|
3.09808e-05
|
|
|
mental and growth retardation with amblyopia
|
[NCBI]
|
3.09808e-05
|
|
|
epileptic encephalopathy, lennox-gastaut type
|
[NCBI]
|
3.09808e-05
|
|
|
ARX
|
[NCBI]
|
3.06445e-05
|
|
|
cutis laxa, autosomal recessive, type i
|
[NCBI]
|
3.02899e-05
|
|
|
BDB1
|
[NCBI]
|
2.96056e-05
|
|
|
PCS
|
[NCBI]
|
2.96056e-05
|
|
|
trismus-pseudocamptodactyly syndrome
|
[NCBI]
|
2.96056e-05
|
|
|
pierson syndrome
|
[NCBI]
|
2.96056e-05
|
|
|
MITF
|
[NCBI]
|
2.9545e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
2.93941e-05
|
|
|
MTTL1
|
[NCBI]
|
2.92283e-05
|
|
|
CHRNA7
|
[NCBI]
|
2.84903e-05
|
|
|
PEPC
|
[NCBI]
|
2.84903e-05
|
|
|
FBXW4
|
[NCBI]
|
2.84903e-05
|
|
|
AP1B1
|
[NCBI]
|
2.84903e-05
|
|
|
H3F3A
|
[NCBI]
|
2.84903e-05
|
|
|
PLEKHC1
|
[NCBI]
|
2.84903e-05
|
|
|
INCENP
|
[NCBI]
|
2.84903e-05
|
|
|
SLC4A11
|
[NCBI]
|
2.84903e-05
|
|
|
POLR2A
|
[NCBI]
|
2.84903e-05
|
|
|
GOT1
|
[NCBI]
|
2.84903e-05
|
|
|
EFEMP2
|
[NCBI]
|
2.84903e-05
|
|
|
USH1G
|
[NCBI]
|
2.84903e-05
|
|
|
TDGF1
|
[NCBI]
|
2.84903e-05
|
|
|
BAK1
|
[NCBI]
|
2.84903e-05
|
|
|
MCC
|
[NCBI]
|
2.84903e-05
|
|
|
lipin 1
|
[NCBI]
|
2.84903e-05
|
|
|
SMOH
|
[NCBI]
|
2.84903e-05
|
|
|
MGP
|
[NCBI]
|
2.84903e-05
|
|
|
EIF2B2
|
[NCBI]
|
2.84903e-05
|
|
|
CSH1
|
[NCBI]
|
2.84903e-05
|
|
|
PUS1
|
[NCBI]
|
2.84903e-05
|
|
|
DLG1
|
[NCBI]
|
2.84903e-05
|
|
|
GLI2
|
[NCBI]
|
2.84903e-05
|
|
|
SHOX2
|
[NCBI]
|
2.84903e-05
|
|
|
SEPT4
|
[NCBI]
|
2.84903e-05
|
|
|
PDGFC
|
[NCBI]
|
2.84903e-05
|
|
|
FRAS1
|
[NCBI]
|
2.84903e-05
|
|
|
NR2F2
|
[NCBI]
|
2.84903e-05
|
|
|
FOXJ1
|
[NCBI]
|
2.84903e-05
|
|
|
kindlin 1
|
[NCBI]
|
2.84903e-05
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
2.84886e-05
|
|
|
ALPS
|
[NCBI]
|
2.78667e-05
|
|
|
AVSD
|
[NCBI]
|
2.73516e-05
|
|
|
USH1D
|
[NCBI]
|
2.68124e-05
|
|
|
AMDM
|
[NCBI]
|
2.68124e-05
|
|
|
sturge-weber syndrome
|
[NCBI]
|
2.68124e-05
|
|
|
DA1
|
[NCBI]
|
2.68124e-05
|
|
|
PDV
|
[NCBI]
|
2.68124e-05
|
|
|
CDPX2
|
[NCBI]
|
2.68061e-05
|
|
|
NPPA
|
[NCBI]
|
2.67669e-05
|
|
|
CSF2RA
|
[NCBI]
|
2.60395e-05
|
|
|
KLK5
|
[NCBI]
|
2.60395e-05
|
|
|
BDKRB2
|
[NCBI]
|
2.60395e-05
|
|
|
EN1
|
[NCBI]
|
2.60395e-05
|
|
|
SEPT5
|
[NCBI]
|
2.60395e-05
|
|
|
COX10
|
[NCBI]
|
2.60395e-05
|
|
|
WNT4
|
[NCBI]
|
2.60395e-05
|
|
|
ADAM10
|
[NCBI]
|
2.60395e-05
|
|
|
TLX3
|
[NCBI]
|
2.60395e-05
|
|
|
SESN1
|
[NCBI]
|
2.60395e-05
|
|
|
BTRC
|
[NCBI]
|
2.60395e-05
|
|
|
ITPA
|
[NCBI]
|
2.60395e-05
|
|
|
PSPH
|
[NCBI]
|
2.60395e-05
|
|
|
NPR2
|
[NCBI]
|
2.60395e-05
|
|
|
SBDS
|
[NCBI]
|
2.60395e-05
|
|
|
ACVR2B
|
[NCBI]
|
2.60395e-05
|
|
|
SLC26A4
|
[NCBI]
|
2.56495e-05
|
|
|
MEB
|
[NCBI]
|
2.56128e-05
|
|
|
LMNA
|
[NCBI]
|
2.52423e-05
|
|
|
CPX
|
[NCBI]
|
2.52249e-05
|
|
|
ESD
|
[NCBI]
|
2.51801e-05
|
|
|
BDNF
|
[NCBI]
|
2.49139e-05
|
|
|
SEMDJL
|
[NCBI]
|
2.4863e-05
|
|
|
PWS
|
[NCBI]
|
2.4552e-05
|
|
|
AOI
|
[NCBI]
|
2.43484e-05
|
|
|
kindler syndrome
|
[NCBI]
|
2.43484e-05
|
|
|
HTX1
|
[NCBI]
|
2.43484e-05
|
|
|
LDB3
|
[NCBI]
|
2.40989e-05
|
|
|
TOP3A
|
[NCBI]
|
2.40989e-05
|
|
|
TEK
|
[NCBI]
|
2.40989e-05
|
|
|
PAK2
|
[NCBI]
|
2.40989e-05
|
|
|
GAN
|
[NCBI]
|
2.40989e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
2.34334e-05
|
|
|
CFTR
|
[NCBI]
|
2.33433e-05
|
|
|
hypertrichosis, anterior cervical
|
[NCBI]
|
2.31342e-05
|
|
|
DTGA1
|
[NCBI]
|
2.31342e-05
|
|
|
spondylometaphyseal dysplasia with dentinogenesis imperfecta
|
[NCBI]
|
2.31342e-05
|
|
|
acrocephalopolysyndactyly type iv
|
[NCBI]
|
2.31342e-05
|
|
|
rhizomelic syndrome
|
[NCBI]
|
2.31342e-05
|
|
|
diaphragmatic hernia 3
|
[NCBI]
|
2.31342e-05
|
|
|
fibrosis of extraocular muscles, congenital, with synergistic divergence
|
[NCBI]
|
2.31342e-05
|
|
|
craniofacial dyssynostosis with short stature
|
[NCBI]
|
2.31342e-05
|
|
|
oculocerebral hypopigmentation syndrome of preus
|
[NCBI]
|
2.31342e-05
|
|
|
spondylocostal dysostosis with anal atresia and urogenital anomalies
|
[NCBI]
|
2.31342e-05
|
|
|
MCOP3
|
[NCBI]
|
2.31342e-05
|
|
|
MRX46
|
[NCBI]
|
2.31342e-05
|
|
|
microcephaly, corpus callosum dysgenesis, and cleft lip/palate
|
[NCBI]
|
2.31342e-05
|
|
|
brachymorphism-onychodysplasia-dysphalangism syndrome
|
[NCBI]
|
2.31342e-05
|
|
|
paine syndrome
|
[NCBI]
|
2.31342e-05
|
|
|
orotic aciduria ii
|
[NCBI]
|
2.31342e-05
|
|
|
yemenite deaf-blind hypopigmentation syndrome
|
[NCBI]
|
2.31342e-05
|
|
|
arthrogryposis and ectodermal dysplasia
|
[NCBI]
|
2.31342e-05
|
|
|
rhizomelic dysplasia, patterson-lowry type
|
[NCBI]
|
2.31342e-05
|
|
|
tetramelic monodactyly
|
[NCBI]
|
2.31342e-05
|
|
|
hydrocephalus with cerebellar agenesis
|
[NCBI]
|
2.31342e-05
|
|
|
abcd syndrome
|
[NCBI]
|
2.31342e-05
|
|
|
MCOPS5
|
[NCBI]
|
2.31342e-05
|
|
|
micromelic bone dysplasia with cloverleaf skull
|
[NCBI]
|
2.31342e-05
|
|
|
rapadilino syndrome
|
[NCBI]
|
2.31342e-05
|
|
|
xeroderma pigmentosum ix
|
[NCBI]
|
2.31342e-05
|
|
|
hypertrichosis, congenital anterior cervical, with peripheral sensory and motor neuropathy
|
[NCBI]
|
2.31342e-05
|
|
|
TCC
|
[NCBI]
|
2.31342e-05
|
|
|
ankyloblepharon filiforme adnatum and cleft palate
|
[NCBI]
|
2.31342e-05
|
|
|
scalp defects and postaxial polydactyly
|
[NCBI]
|
2.31342e-05
|
|
|
CMD3A
|
[NCBI]
|
2.31342e-05
|
|
|
spondylometaepiphyseal dysplasia, short limb-hand type
|
[NCBI]
|
2.31342e-05
|
|
|
hypotonia-cystinuria syndrome
|
[NCBI]
|
2.31342e-05
|
|
|
albinism, ocular, with sensorineural deafness
|
[NCBI]
|
2.31342e-05
|
|
|
radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation
|
[NCBI]
|
2.31342e-05
|
|
|
brachydactyly, preaxial, with hallux varus and thumb abduction
|
[NCBI]
|
2.31342e-05
|
|
|
pterygium syndrome, multiple, x-linked
|
[NCBI]
|
2.31342e-05
|
|
|
sakoda complex
|
[NCBI]
|
2.31342e-05
|
|
|
muscular dystrophy, hemizygous lethal type
|
[NCBI]
|
2.31342e-05
|
|
|
spondyloenchondrodysplasia
|
[NCBI]
|
2.26833e-05
|
|
|
FCMD
|
[NCBI]
|
2.25176e-05
|
|
|
ZMPSTE24
|
[NCBI]
|
2.24953e-05
|
|
|
GLI
|
[NCBI]
|
2.24953e-05
|
|
|
KRT16
|
[NCBI]
|
2.24953e-05
|
|
|
USH3A
|
[NCBI]
|
2.24953e-05
|
|
|
TFAP2A
|
[NCBI]
|
2.24953e-05
|
|
|
WNT7A
|
[NCBI]
|
2.24953e-05
|
|
|
TGIF
|
[NCBI]
|
2.24953e-05
|
|
|
SCN2A
|
[NCBI]
|
2.24953e-05
|
|
|
CNTFR
|
[NCBI]
|
2.24953e-05
|
|
|
TFAP2C
|
[NCBI]
|
2.24953e-05
|
|
|
EVC2
|
[NCBI]
|
2.24953e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
2.23487e-05
|
|
|
congenital cataracts, facial dysmorphism, and neuropathy
|
[NCBI]
|
2.21558e-05
|
|
|
HHT
|
[NCBI]
|
2.1266e-05
|
|
|
GRHL3
|
[NCBI]
|
2.11312e-05
|
|
|
FACL4
|
[NCBI]
|
2.11312e-05
|
|
|
LPIN2
|
[NCBI]
|
2.11312e-05
|
|
|
MAP2K1
|
[NCBI]
|
2.11312e-05
|
|
|
HOXA1
|
[NCBI]
|
2.11312e-05
|
|
|
ALDOA
|
[NCBI]
|
2.11312e-05
|
|
|
EPAS1
|
[NCBI]
|
2.11312e-05
|
|
|
WNT1
|
[NCBI]
|
2.11312e-05
|
|
|
IGF2R
|
[NCBI]
|
2.11312e-05
|
|
|
ADK
|
[NCBI]
|
2.11312e-05
|
|
|
BCS1L
|
[NCBI]
|
2.11312e-05
|
|
|
COMT
|
[NCBI]
|
2.10596e-05
|
|
|
DWS
|
[NCBI]
|
2.04344e-05
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
2.01906e-05
|
|
|
CHUK
|
[NCBI]
|
1.99463e-05
|
|
|
CBL
|
[NCBI]
|
1.99463e-05
|
|
|
DGUOK
|
[NCBI]
|
1.99463e-05
|
|
|
COL4A1
|
[NCBI]
|
1.99463e-05
|
|
|
PVRL1
|
[NCBI]
|
1.99463e-05
|
|
|
RECQL4
|
[NCBI]
|
1.99463e-05
|
|
|
BBS4
|
[NCBI]
|
1.99463e-05
|
|
|
FOLR1
|
[NCBI]
|
1.99463e-05
|
|
|
LARGE
|
[NCBI]
|
1.99463e-05
|
|
|
TGFBR1
|
[NCBI]
|
1.99463e-05
|
|
|
AKT2
|
[NCBI]
|
1.99463e-05
|
|
|
HSD17B4
|
[NCBI]
|
1.99463e-05
|
|
|
GALR1
|
[NCBI]
|
1.99463e-05
|
|
|
CACNA1C
|
[NCBI]
|
1.99463e-05
|
|
|
SLC1A3
|
[NCBI]
|
1.99463e-05
|
|
|
ETS2
|
[NCBI]
|
1.99463e-05
|
|
|
POMGNT1
|
[NCBI]
|
1.99463e-05
|
|
|
BTHS
|
[NCBI]
|
1.94204e-05
|
|
|
ARPKD
|
[NCBI]
|
1.93143e-05
|
|
|
PGM1
|
[NCBI]
|
1.89005e-05
|
|
|
MYO5A
|
[NCBI]
|
1.89005e-05
|
|
|
CXORF5
|
[NCBI]
|
1.89005e-05
|
|
|
MPI
|
[NCBI]
|
1.89005e-05
|
|
|
APAF1
|
[NCBI]
|
1.89005e-05
|
|
|
RMRP
|
[NCBI]
|
1.89005e-05
|
|
|
ZIC3
|
[NCBI]
|
1.89005e-05
|
|
|
SOST
|
[NCBI]
|
1.89005e-05
|
|
|
FOXE1
|
[NCBI]
|
1.89005e-05
|
|
|
CPL
|
[NCBI]
|
1.87521e-05
|
|
|
opsismodysplasia
|
[NCBI]
|
1.87521e-05
|
|
|
distichiasis
|
[NCBI]
|
1.87521e-05
|
|
|
CTAA1
|
[NCBI]
|
1.87521e-05
|
|
|
auriculocondylar syndrome
|
[NCBI]
|
1.87521e-05
|
|
|
dentin dysplasia, type i
|
[NCBI]
|
1.87521e-05
|
|
|
USH2B
|
[NCBI]
|
1.87521e-05
|
|
|
amyotrophy, neurogenic scapuloperoneal, new england type
|
[NCBI]
|
1.87521e-05
|
|
|
CNC2
|
[NCBI]
|
1.87521e-05
|
|
|
HTC2
|
[NCBI]
|
1.87521e-05
|
|
|
HSCR1
|
[NCBI]
|
1.85239e-05
|
|
|
BDC
|
[NCBI]
|
1.84191e-05
|
|
|
kniest dysplasia
|
[NCBI]
|
1.84191e-05
|
|
|
WGN1
|
[NCBI]
|
1.84191e-05
|
|
|
insulin-like growth factor i deficiency
|
[NCBI]
|
1.82615e-05
|
|
|
OODD
|
[NCBI]
|
1.82615e-05
|
|
|
HPE5
|
[NCBI]
|
1.82615e-05
|
|
|
carbimazole sensitivity
|
[NCBI]
|
1.82615e-05
|
|
|
DDSH
|
[NCBI]
|
1.82615e-05
|
|
|
FIDD
|
[NCBI]
|
1.82615e-05
|
|
|
eem syndrome
|
[NCBI]
|
1.82615e-05
|
|
|
macrocephaly, benign familial
|
[NCBI]
|
1.82615e-05
|
|
|
optic nerve hypoplasia, bilateral
|
[NCBI]
|
1.82615e-05
|
|
|
CRS2
|
[NCBI]
|
1.82615e-05
|
|
|
oroacral syndrome, verloes-koulischer type
|
[NCBI]
|
1.82615e-05
|
|
|
nevo syndrome
|
[NCBI]
|
1.82615e-05
|
|
|
lathosterolosis
|
[NCBI]
|
1.82615e-05
|
|
|
humerospinal dysostosis
|
[NCBI]
|
1.82615e-05
|
|
|
taurodontism
|
[NCBI]
|
1.82615e-05
|
|
|
coarctation of aorta
|
[NCBI]
|
1.82615e-05
|
|
|
nuchal bleb, familial
|
[NCBI]
|
1.82615e-05
|
|
|
HANAC
|
[NCBI]
|
1.82615e-05
|
|
|
TLPD
|
[NCBI]
|
1.82615e-05
|
|
|
TS
|
[NCBI]
|
1.82615e-05
|
|
|
craniosynostosis with ectopia lentis
|
[NCBI]
|
1.82615e-05
|
|
|
roifman syndrome
|
[NCBI]
|
1.82615e-05
|
|
|
USH1F
|
[NCBI]
|
1.82615e-05
|
|
|
ATCAY
|
[NCBI]
|
1.82615e-05
|
|
|
MADB
|
[NCBI]
|
1.82615e-05
|
|
|
chylothorax, congenital
|
[NCBI]
|
1.82615e-05
|
|
|
CDHS
|
[NCBI]
|
1.82615e-05
|
|
|
satoyoshi syndrome
|
[NCBI]
|
1.82615e-05
|
|
|
CCD
|
[NCBI]
|
1.81024e-05
|
|
|
MYO15A
|
[NCBI]
|
1.79657e-05
|
|
|
MSX2
|
[NCBI]
|
1.79657e-05
|
|
|
SRA2
|
[NCBI]
|
1.79657e-05
|
|
|
ACP1
|
[NCBI]
|
1.79657e-05
|
|
|
TIMM8A
|
[NCBI]
|
1.79657e-05
|
|
|
TP73
|
[NCBI]
|
1.79657e-05
|
|
|
KRAS
|
[NCBI]
|
1.74373e-05
|
|
|
COL18A1
|
[NCBI]
|
1.71217e-05
|
|
|
MAN2B1
|
[NCBI]
|
1.71217e-05
|
|
|
SPINK5
|
[NCBI]
|
1.71217e-05
|
|
|
GATA3
|
[NCBI]
|
1.71217e-05
|
|
|
LDHA
|
[NCBI]
|
1.71217e-05
|
|
|
LWD
|
[NCBI]
|
1.68497e-05
|
|
|
NFNS
|
[NCBI]
|
1.68142e-05
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
1.68142e-05
|
|
|
XPD
|
[NCBI]
|
1.68142e-05
|
|
|
SMA1
|
[NCBI]
|
1.67797e-05
|
|
|
SVAS
|
[NCBI]
|
1.66895e-05
|
|
|
LCA1
|
[NCBI]
|
1.64846e-05
|
|
|
DBA
|
[NCBI]
|
1.63589e-05
|
|
|
BMPR1A
|
[NCBI]
|
1.63533e-05
|
|
|
AP3B1
|
[NCBI]
|
1.63533e-05
|
|
|
NEU1
|
[NCBI]
|
1.63533e-05
|
|
|
EIF2B5
|
[NCBI]
|
1.63533e-05
|
|
|
ERCC1
|
[NCBI]
|
1.63533e-05
|
|
|
DLK1
|
[NCBI]
|
1.63533e-05
|
|
|
KLK7
|
[NCBI]
|
1.63533e-05
|
|
|
SLC7A9
|
[NCBI]
|
1.63533e-05
|
|
|
ATF4
|
[NCBI]
|
1.63533e-05
|
|
|
GJA5
|
[NCBI]
|
1.56488e-05
|
|
|
RAB27A
|
[NCBI]
|
1.56488e-05
|
|
|
GATA4
|
[NCBI]
|
1.56488e-05
|
|
|
FANCD2
|
[NCBI]
|
1.56488e-05
|
|
|
MADD
|
[NCBI]
|
1.54975e-05
|
|
|
CFTD
|
[NCBI]
|
1.53544e-05
|
|
|
IDUA
|
[NCBI]
|
1.52066e-05
|
|
|
IH
|
[NCBI]
|
1.51868e-05
|
|
|
ERCC3
|
[NCBI]
|
1.49991e-05
|
|
|
PDGFRA
|
[NCBI]
|
1.49991e-05
|
|
|
PCDH15
|
[NCBI]
|
1.49991e-05
|
|
|
SLC26A2
|
[NCBI]
|
1.49991e-05
|
|
|
LTC4S
|
[NCBI]
|
1.49991e-05
|
|
|
subglottic bar
|
[NCBI]
|
1.48012e-05
|
|
|
keratitis, hereditary
|
[NCBI]
|
1.48012e-05
|
|
|
corneal dystrophy and perceptive deafness
|
[NCBI]
|
1.48012e-05
|
|
|
MLASA
|
[NCBI]
|
1.48012e-05
|
|
|
osteolysis, hereditary multicentric
|
[NCBI]
|
1.48012e-05
|
|
|
angioma serpiginosum, autosomal dominant
|
[NCBI]
|
1.48012e-05
|
|
|
ED3
|
[NCBI]
|
1.48012e-05
|
|
|
spondyloperipheral dysplasia
|
[NCBI]
|
1.48012e-05
|
|
|
ehlers-danlos syndrome, progeroid form
|
[NCBI]
|
1.48012e-05
|
|
|
cryohydrocytosis, stomatin-deficient, with mental retardation, seizures, cataracts, and massive hepatosplenomegaly
|
[NCBI]
|
1.48012e-05
|
|
|
CVG/MR
|
[NCBI]
|
1.48012e-05
|
|
|
bile acid synthesis defect, congenital, 4
|
[NCBI]
|
1.48012e-05
|
|
|
endocardial fibroelastosis
|
[NCBI]
|
1.48012e-05
|
|
|
polydactyly, preaxial iv
|
[NCBI]
|
1.48012e-05
|
|
|
MCOP2
|
[NCBI]
|
1.48012e-05
|
|
|
PURE&apos
|
[NCBI]
|
1.48012e-05
|
|
|
knuckle pads, leukonychia, and sensorineural deafness
|
[NCBI]
|
1.48012e-05
|
|
|
EFE
|
[NCBI]
|
1.45629e-05
|
|
|
GK
|
[NCBI]
|
1.43968e-05
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
1.4022e-05
|
|
|
AN2
|
[NCBI]
|
1.38661e-05
|
|
|
orotic aciduria i
|
[NCBI]
|
1.38361e-05
|
|
|
IRF6
|
[NCBI]
|
1.38361e-05
|
|
|
MFS
|
[NCBI]
|
1.36976e-05
|
|
|
PSACH
|
[NCBI]
|
1.33652e-05
|
|
|
USH1C
|
[NCBI]
|
1.33119e-05
|
|
|
LBR
|
[NCBI]
|
1.28203e-05
|
|
|
PHOX2B
|
[NCBI]
|
1.28203e-05
|
|
|
CDKN1C
|
[NCBI]
|
1.28203e-05
|
|
|
GJA8
|
[NCBI]
|
1.28203e-05
|
|
|
immunoosseous dysplasia, schimke type
|
[NCBI]
|
1.28024e-05
|
|
|
ALDH2
|
[NCBI]
|
1.23579e-05
|
|
|
XIST
|
[NCBI]
|
1.23579e-05
|
|
|
PRKAR1A
|
[NCBI]
|
1.23579e-05
|
|
|
BAX
|
[NCBI]
|
1.23579e-05
|
|
|
DKC1
|
[NCBI]
|
1.23579e-05
|
|
|
mental retardation, fra12a type
|
[NCBI]
|
1.21728e-05
|
|
|
macrocephaly/autism syndrome
|
[NCBI]
|
1.21728e-05
|
|
|
steatocystoma multiplex
|
[NCBI]
|
1.21728e-05
|
|
|
neural tube defects, x-linked
|
[NCBI]
|
1.21728e-05
|
|
|
BJS
|
[NCBI]
|
1.21728e-05
|
|
|
peroxisomal acyl-coa oxidase deficiency
|
[NCBI]
|
1.21728e-05
|
|
|
encephalopathy, ethylmalonic
|
[NCBI]
|
1.21728e-05
|
|
|
polymicrogyria, bilateral frontoparietal
|
[NCBI]
|
1.21728e-05
|
|
|
witkop syndrome
|
[NCBI]
|
1.21728e-05
|
|
|
bowing of legs, anterior, with dwarfism
|
[NCBI]
|
1.21728e-05
|
|
|
syndactyly, type iii
|
[NCBI]
|
1.21728e-05
|
|
|
peters anomaly
|
[NCBI]
|
1.21728e-05
|
|
|
MRXSL
|
[NCBI]
|
1.21728e-05
|
|
|
SPS
|
[NCBI]
|
1.21728e-05
|
|
|
ramon syndrome
|
[NCBI]
|
1.21728e-05
|
|
|
fumarase deficiency
|
[NCBI]
|
1.21728e-05
|
|
|
mevalonic aciduria
|
[NCBI]
|
1.21728e-05
|
|
|
DHCR7
|
[NCBI]
|
1.19216e-05
|
|
|
PEPD
|
[NCBI]
|
1.19216e-05
|
|
|
MYCN
|
[NCBI]
|
1.19216e-05
|
|
|
LRP5
|
[NCBI]
|
1.19216e-05
|
|
|
MVK
|
[NCBI]
|
1.19216e-05
|
|
|
MYH9
|
[NCBI]
|
1.19216e-05
|
|
|
ADA
|
[NCBI]
|
1.15206e-05
|
|
|
AGTR1
|
[NCBI]
|
1.1509e-05
|
|
|
SLC25A4
|
[NCBI]
|
1.1509e-05
|
|
|
HMGA2
|
[NCBI]
|
1.1509e-05
|
|
|
AFP
|
[NCBI]
|
1.13856e-05
|
|
|
NPS
|
[NCBI]
|
1.13266e-05
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
1.12872e-05
|
|
|
AS
|
[NCBI]
|
1.12202e-05
|
|
|
H19
|
[NCBI]
|
1.11179e-05
|
|
|
SOCS1
|
[NCBI]
|
1.11179e-05
|
|
|
SCN1A
|
[NCBI]
|
1.11179e-05
|
|
|
GUSB
|
[NCBI]
|
1.1044e-05
|
|
|
PEMT
|
[NCBI]
|
1.07465e-05
|
|
|
FY
|
[NCBI]
|
1.07465e-05
|
|
|
SLC3A1
|
[NCBI]
|
1.07465e-05
|
|
|
TCOF
|
[NCBI]
|
1.05347e-05
|
|
|
BMP2
|
[NCBI]
|
1.03932e-05
|
|
|
FOXO1A
|
[NCBI]
|
1.03932e-05
|
|
|
SOX10
|
[NCBI]
|
1.03932e-05
|
|
|
ARSB
|
[NCBI]
|
1.03932e-05
|
|
|
xeroderma pigmentosum, complementation group e
|
[NCBI]
|
1.0094e-05
|
|
|
amme complex
|
[NCBI]
|
1.0094e-05
|
|
|
VMCM
|
[NCBI]
|
1.0094e-05
|
|
|
pseudodiastrophic dysplasia
|
[NCBI]
|
1.0094e-05
|
|
|
NR5A1
|
[NCBI]
|
1.00564e-05
|
|
|
AKT1
|
[NCBI]
|
9.7349e-06
|
|
|
ERCC5
|
[NCBI]
|
9.7349e-06
|
|
|
XPC
|
[NCBI]
|
9.7349e-06
|
|
|
FKRP
|
[NCBI]
|
9.4276e-06
|
|
|
DHFR
|
[NCBI]
|
9.38059e-06
|
|
|
CNC1
|
[NCBI]
|
9.24629e-06
|
|
|
CAV3
|
[NCBI]
|
9.13345e-06
|
|
|
oca2 gene
|
[NCBI]
|
9.13345e-06
|
|
|
AHO
|
[NCBI]
|
9.02041e-06
|
|
|
jejunal atresia
|
[NCBI]
|
8.88834e-06
|
|
|
short rib-polydactyly syndrome, type iii
|
[NCBI]
|
8.88834e-06
|
|
|
OTSC1
|
[NCBI]
|
8.88834e-06
|
|
|
HLA-A
|
[NCBI]
|
8.85155e-06
|
|
|
EDNRB
|
[NCBI]
|
8.85155e-06
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
8.64609e-06
|
|
|
JAG1
|
[NCBI]
|
8.58109e-06
|
|
|
short rib-polydactyly syndrome, type iv
|
[NCBI]
|
8.55714e-06
|
|
|
hypospadias, autosomal
|
[NCBI]
|
8.40593e-06
|
|
|
TD2
|
[NCBI]
|
8.40593e-06
|
|
|
MDC1C
|
[NCBI]
|
8.40593e-06
|
|
|
GDD
|
[NCBI]
|
8.40593e-06
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
8.40593e-06
|
|
|
SCZD1
|
[NCBI]
|
8.40593e-06
|
|
|
elejalde disease
|
[NCBI]
|
8.40593e-06
|
|
|
PCD
|
[NCBI]
|
8.35742e-06
|
|
|
FHIT
|
[NCBI]
|
8.32132e-06
|
|
|
BMP4
|
[NCBI]
|
8.32132e-06
|
|
|
VASP
|
[NCBI]
|
8.32132e-06
|
|
|
GAMT
|
[NCBI]
|
8.32132e-06
|
|
|
SCZD
|
[NCBI]
|
8.25117e-06
|
|
|
MHS1
|
[NCBI]
|
8.17269e-06
|
|
|
IGF1
|
[NCBI]
|
8.07158e-06
|
|
|
HSS
|
[NCBI]
|
8.02666e-06
|
|
|
USH2A
|
[NCBI]
|
8.02666e-06
|
|
|
UCMD
|
[NCBI]
|
8.02666e-06
|
|
|
GLB1
|
[NCBI]
|
7.83125e-06
|
|
|
NR0B1
|
[NCBI]
|
7.83125e-06
|
|
|
GSR
|
[NCBI]
|
7.83125e-06
|
|
|
NF1
|
[NCBI]
|
7.81763e-06
|
|
|
cutis laxa, corneal clouding, and mental retardation
|
[NCBI]
|
7.69105e-06
|
|
|
maxillonasal dysplasia, binder type
|
[NCBI]
|
7.69105e-06
|
|
|
AUTS4
|
[NCBI]
|
7.69105e-06
|
|
|
lethal congenital contracture syndrome 1
|
[NCBI]
|
7.69105e-06
|
|
|
leukonychia totalis
|
[NCBI]
|
7.69105e-06
|
|
|
spondyloepiphyseal dysplasia tarda, toledo type
|
[NCBI]
|
7.69105e-06
|
|
|
aortic valve disease
|
[NCBI]
|
7.52404e-06
|
|
|
NDP
|
[NCBI]
|
7.37669e-06
|
|
|
hemangioma-thrombocytopenia syndrome
|
[NCBI]
|
7.28159e-06
|
|
|
SLC2A2
|
[NCBI]
|
7.16148e-06
|
|
|
DSG1
|
[NCBI]
|
7.16148e-06
|
|
|
LOX
|
[NCBI]
|
7.16148e-06
|
|
|
CZP1
|
[NCBI]
|
7.00996e-06
|
|
|
VLDLRCH
|
[NCBI]
|
7.00996e-06
|
|
|
HPS2
|
[NCBI]
|
7.00996e-06
|
|
|
RMS1
|
[NCBI]
|
7.00996e-06
|
|
|
MODY2
|
[NCBI]
|
7.00996e-06
|
|
|
emanuel syndrome
|
[NCBI]
|
7.00996e-06
|
|
|
winchester syndrome
|
[NCBI]
|
7.00996e-06
|
|
|
NYS1
|
[NCBI]
|
7.00996e-06
|
|
|
XPB
|
[NCBI]
|
7.00996e-06
|
|
|
ENG
|
[NCBI]
|
6.95374e-06
|
|
|
RET
|
[NCBI]
|
6.90234e-06
|
|
|
FANCA
|
[NCBI]
|
6.75307e-06
|
|
|
RS1
|
[NCBI]
|
6.75307e-06
|
|
|
BRAF
|
[NCBI]
|
6.75307e-06
|
|
|
POLG
|
[NCBI]
|
6.75307e-06
|
|
|
OA1
|
[NCBI]
|
6.75307e-06
|
|
|
PHA
|
[NCBI]
|
6.59296e-06
|
|
|
VWM
|
[NCBI]
|
6.59296e-06
|
|
|
SMN2
|
[NCBI]
|
6.37153e-06
|
|
|
PDS
|
[NCBI]
|
6.1281e-06
|
|
|
refsum disease, infantile form
|
[NCBI]
|
5.95634e-06
|
|
|
XPG
|
[NCBI]
|
5.84074e-06
|
|
|
ASMD
|
[NCBI]
|
5.84074e-06
|
|
|
CDG1B
|
[NCBI]
|
5.84074e-06
|
|
|
BOCD
|
[NCBI]
|
5.84074e-06
|
|
|
GS1
|
[NCBI]
|
5.84074e-06
|
|
|
dentinogenesis imperfecta, shields type iii
|
[NCBI]
|
5.84074e-06
|
|
|
TFPI
|
[NCBI]
|
5.56559e-06
|
|
|
MMP2
|
[NCBI]
|
5.51907e-06
|
|
|
FH
|
[NCBI]
|
5.51907e-06
|
|
|
DM2
|
[NCBI]
|
5.46219e-06
|
|
|
galactosemia
|
[NCBI]
|
5.46219e-06
|
|
|
hyperglycerolemia
|
[NCBI]
|
5.36779e-06
|
|
|
mitochondrial complex i deficiency
|
[NCBI]
|
5.36779e-06
|
|
|
ND
|
[NCBI]
|
5.34882e-06
|
|
|
MLL
|
[NCBI]
|
5.21336e-06
|
|
|
FOXP3
|
[NCBI]
|
5.0672e-06
|
|
|
CMT1A
|
[NCBI]
|
5.00897e-06
|
|
|
factor vii deficiency
|
[NCBI]
|
4.92528e-06
|
|
|
FGF23
|
[NCBI]
|
4.92528e-06
|
|
|
IRID1
|
[NCBI]
|
4.85265e-06
|
|
|
de sanctis-cacchione syndrome
|
[NCBI]
|
4.85265e-06
|
|
|
ADHR
|
[NCBI]
|
4.85265e-06
|
|
|
gracile syndrome
|
[NCBI]
|
4.85265e-06
|
|
|
XPV
|
[NCBI]
|
4.85265e-06
|
|
|
LI1
|
[NCBI]
|
4.81985e-06
|
|
|
hypophosphatemic rickets, x-linked dominant
|
[NCBI]
|
4.81985e-06
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
4.80612e-06
|
|
|
CPI
|
[NCBI]
|
4.79044e-06
|
|
|
APOA1
|
[NCBI]
|
4.65345e-06
|
|
|
WT1
|
[NCBI]
|
4.39663e-06
|
|
|
PLP1
|
[NCBI]
|
4.39663e-06
|
|
|
down syndrome
|
[NCBI]
|
4.20299e-06
|
|
|
CDG1A
|
[NCBI]
|
4.20299e-06
|
|
|
ADM
|
[NCBI]
|
4.15643e-06
|
|
|
CHH
|
[NCBI]
|
4.07456e-06
|
|
|
iminoglycinuria
|
[NCBI]
|
4.02817e-06
|
|
|
spondyloepimetaphyseal dysplasia with multiple dislocations
|
[NCBI]
|
4.02817e-06
|
|
|
dupuytren contracture
|
[NCBI]
|
4.02817e-06
|
|
|
DA5
|
[NCBI]
|
4.02817e-06
|
|
|
spinocerebellar ataxia 29
|
[NCBI]
|
4.02817e-06
|
|
|
MCOP1
|
[NCBI]
|
4.02817e-06
|
|
|
encephalopathy, neonatal severe, due to mecp2 mutations
|
[NCBI]
|
4.01262e-06
|
|
|
ISS
|
[NCBI]
|
4.01262e-06
|
|
|
IRID2
|
[NCBI]
|
4.01262e-06
|
|
|
GS2
|
[NCBI]
|
4.01262e-06
|
|
|
pineal hyperplasia, insulin-resistant diabetes mellitus, and somatic abnormalities
|
[NCBI]
|
4.01262e-06
|
|
|
XPF
|
[NCBI]
|
4.01262e-06
|
|
|
OSCS
|
[NCBI]
|
3.9303e-06
|
|
|
schimmelpenning-feuerstein-mims syndrome
|
[NCBI]
|
3.9303e-06
|
|
|
ELN
|
[NCBI]
|
3.70575e-06
|
|
|
ABCC8
|
[NCBI]
|
3.49903e-06
|
|
|
autonomic control, congenital failure of
|
[NCBI]
|
3.42955e-06
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
3.37086e-06
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
3.35511e-06
|
|
|
neuraminidase deficiency
|
[NCBI]
|
3.35511e-06
|
|
|
hyperprolinemia, type i
|
[NCBI]
|
3.29587e-06
|
|
|
sialuria
|
[NCBI]
|
3.29587e-06
|
|
|
USH3
|
[NCBI]
|
3.29587e-06
|
|
|
hydrocephalus
|
[NCBI]
|
3.29587e-06
|
|
|
ACCPN
|
[NCBI]
|
3.29587e-06
|
|
|
FRA16A
|
[NCBI]
|
3.29587e-06
|
|
|
renal cysts and diabetes syndrome
|
[NCBI]
|
3.29587e-06
|
|
|
deafness, congenital, with keratopachydermia and constrictions of fingers and toes
|
[NCBI]
|
3.29587e-06
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
3.29587e-06
|
|
|
CNTF
|
[NCBI]
|
3.26073e-06
|
|
|
HS
|
[NCBI]
|
3.20847e-06
|
|
|
XPA
|
[NCBI]
|
3.05456e-06
|
|
|
ARSA
|
[NCBI]
|
3.02684e-06
|
|
|
HGPS
|
[NCBI]
|
3.01267e-06
|
|
|
AHR
|
[NCBI]
|
2.95195e-06
|
|
|
TYR
|
[NCBI]
|
2.93944e-06
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
2.78708e-06
|
|
|
PGL1
|
[NCBI]
|
2.78708e-06
|
|
|
PC1
|
[NCBI]
|
2.68337e-06
|
|
|
myoclonic epilepsy, neonatal, with suppression-burst pattern
|
[NCBI]
|
2.68337e-06
|
|
|
morquio syndrome b
|
[NCBI]
|
2.68337e-06
|
|
|
langer mesomelic dysplasia
|
[NCBI]
|
2.68337e-06
|
|
|
HSCR2
|
[NCBI]
|
2.68337e-06
|
|
|
OCRL
|
[NCBI]
|
2.67323e-06
|
|
|
ATS
|
[NCBI]
|
2.52817e-06
|
|
|
TD1
|
[NCBI]
|
2.34202e-06
|
|
|
caffey disease
|
[NCBI]
|
2.1602e-06
|
|
|
CFEOM1
|
[NCBI]
|
2.1602e-06
|
|
|
d-bifunctional protein deficiency
|
[NCBI]
|
2.1602e-06
|
|
|
usher syndrome, type i
|
[NCBI]
|
2.03635e-06
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
2.03635e-06
|
|
|
CMDR
|
[NCBI]
|
1.96358e-06
|
|
|
ASD1
|
[NCBI]
|
1.96358e-06
|
|
|
metatropic dwarfism
|
[NCBI]
|
1.96358e-06
|
|
|
STHAG4
|
[NCBI]
|
1.96358e-06
|
|
|
HBD
|
[NCBI]
|
1.96358e-06
|
|
|
sclerotylosis
|
[NCBI]
|
1.96358e-06
|
|
|
GNAS
|
[NCBI]
|
1.91946e-06
|
|
|
DKC
|
[NCBI]
|
1.80717e-06
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
1.80717e-06
|
|
|
HEXA
|
[NCBI]
|
1.80041e-06
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
1.80041e-06
|
|
|
molybdenum cofactor deficiency
|
[NCBI]
|
1.71441e-06
|
|
|
SPD1
|
[NCBI]
|
1.71441e-06
|
|
|
denys-drash syndrome
|
[NCBI]
|
1.71441e-06
|
|
|
pituitary dwarfism iii
|
[NCBI]
|
1.71441e-06
|
|
|
DGI1
|
[NCBI]
|
1.71441e-06
|
|
|
leiomyoma, hereditary multiple, of skin
|
[NCBI]
|
1.71441e-06
|
|
|
MTS
|
[NCBI]
|
1.71441e-06
|
|
|
mannosidosis, beta a, lysosomal
|
[NCBI]
|
1.71441e-06
|
|
|
FTNS
|
[NCBI]
|
1.71441e-06
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
1.71441e-06
|
|
|
ehlers-danlos syndrome, type vii, autosomal recessive
|
[NCBI]
|
1.71441e-06
|
|
|
NCIE1
|
[NCBI]
|
1.71441e-06
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
1.58698e-06
|
|
|
cystinuria
|
[NCBI]
|
1.58698e-06
|
|
|
MPZ
|
[NCBI]
|
1.52718e-06
|
|
|
PI
|
[NCBI]
|
1.40608e-06
|
|
|
HD
|
[NCBI]
|
1.39414e-06
|
|
|
ehlers-danlos syndrome, type i
|
[NCBI]
|
1.37773e-06
|
|
|
phosphoribosylpyrophosphate synthetase superactivity
|
[NCBI]
|
1.33632e-06
|
|
|
neuropathy, congenital hypomyelinating
|
[NCBI]
|
1.33632e-06
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
1.33632e-06
|
|
|
alpers diffuse degeneration of cerebral gray matter with hepatic cirrhosis
|
[NCBI]
|
1.33632e-06
|
|
|
EVC
|
[NCBI]
|
1.2765e-06
|
|
|
RCDP1
|
[NCBI]
|
1.18002e-06
|
|
|
apert syndrome
|
[NCBI]
|
1.18002e-06
|
|
|
FIH
|
[NCBI]
|
1.18002e-06
|
|
|
SEDC
|
[NCBI]
|
1.18002e-06
|
|
|
ABCG2
|
[NCBI]
|
1.07279e-06
|
|
|
hurler syndrome
|
[NCBI]
|
1.03696e-06
|
|
|
NETH
|
[NCBI]
|
1.01794e-06
|
|
|
INAD1
|
[NCBI]
|
1.01794e-06
|
|
|
CORD2
|
[NCBI]
|
1.01794e-06
|
|
|
factor xii deficiency
|
[NCBI]
|
1.01794e-06
|
|
|
pycnodysostosis
|
[NCBI]
|
1.01794e-06
|
|
|
EVA
|
[NCBI]
|
9.94502e-07
|
|
|
SMA3
|
[NCBI]
|
9.94502e-07
|
|
|
visceral neuropathy, familial, autosomal recessive
|
[NCBI]
|
9.27165e-07
|
|
|
proteus syndrome
|
[NCBI]
|
7.98348e-07
|
|
|
MCPH1
|
[NCBI]
|
7.5263e-07
|
|
|
MSD
|
[NCBI]
|
6.62847e-07
|
|
|
FPLD2
|
[NCBI]
|
6.62847e-07
|
|
|
OCA1A
|
[NCBI]
|
5.73865e-07
|
|
|
phenylketonuria
|
[NCBI]
|
5.7067e-07
|
|
|
FBS
|
[NCBI]
|
5.34798e-07
|
|
|
PKD1
|
[NCBI]
|
5.26861e-07
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
5.183e-07
|
|
|
MEN2B
|
[NCBI]
|
5.183e-07
|
|
|
meningioma, familial
|
[NCBI]
|
4.46574e-07
|
|
|
BCNS
|
[NCBI]
|
4.40056e-07
|
|
|
LAD
|
[NCBI]
|
3.89117e-07
|
|
|
AMC
|
[NCBI]
|
3.65904e-07
|
|
|
IPEX
|
[NCBI]
|
3.59688e-07
|
|
|
CMDD
|
[NCBI]
|
3.59688e-07
|
|
|
ichthyosis congenita, harlequin fetus type
|
[NCBI]
|
3.59688e-07
|
|
|
PDP
|
[NCBI]
|
3.59688e-07
|
|
|
VMD
|
[NCBI]
|
3.36839e-07
|
|
|
ACC
|
[NCBI]
|
3.36702e-07
|
|
|
HMBS
|
[NCBI]
|
3.29885e-07
|
|
|
cerebrotendinous xanthomatosis
|
[NCBI]
|
2.76292e-07
|
|
|
CHNG2
|
[NCBI]
|
2.76292e-07
|
|
|
FA
|
[NCBI]
|
2.46423e-07
|
|
|
ORW2
|
[NCBI]
|
2.23229e-07
|
|
|
ACH
|
[NCBI]
|
2.12283e-07
|
|
|
mucopolysaccharidosis type iiib
|
[NCBI]
|
1.21902e-07
|
|
|
BHD
|
[NCBI]
|
1.21902e-07
|
|
|
PPAC
|
[NCBI]
|
1.21902e-07
|
|
|
methylmalonic aciduria and homocystinuria, cblc type
|
[NCBI]
|
1.21902e-07
|
|
|
argininemia
|
[NCBI]
|
1.21902e-07
|
|
|
long-chain 3-hydroxyacyl-coa dehydrogenase deficiency
|
[NCBI]
|
1.21902e-07
|
|
|
deafness, conductive, with stapes fixation
|
[NCBI]
|
1.21902e-07
|
|
|
COMP
|
[NCBI]
|
1.11044e-07
|
|
|
FMR1
|
[NCBI]
|
7.3183e-08
|
|
|
PLG
|
[NCBI]
|
6.89451e-08
|
|
|
AMH
|
[NCBI]
|
6.13909e-08
|
|
|
DURS1
|
[NCBI]
|
5.52805e-08
|
|
|
HNPP
|
[NCBI]
|
5.40597e-08
|
|
|
HNA
|
[NCBI]
|
5.26517e-08
|
|
|
NPHS1
|
[NCBI]
|
5.26517e-08
|
|
|
klippel-feil syndrome, autosomal dominant
|
[NCBI]
|
2.7616e-08
|
|
|
oculocerebral syndrome with hypopigmentation
|
[NCBI]
|
2.7616e-08
|
|
|
hairy elbows
|
[NCBI]
|
2.7616e-08
|
|
|
JPS
|
[NCBI]
|
2.43349e-08
|
|
|
cutis laxa, x-linked
|
[NCBI]
|
1.28021e-08
|
|
|
GAN1
|
[NCBI]
|
1.28021e-08
|
|
|
crigler-najjar syndrome
|
[NCBI]
|
1.28021e-08
|
|
|
neural tube defects
|
[NCBI]
|
1.21638e-08
|
|
|
POF1
|
[NCBI]
|
1.21638e-08
|
|
|
kartagener syndrome
|
[NCBI]
|
6.31396e-09
|
|
|
GAPDH
|
[NCBI]
|
4.24079e-10
|
|
|
SMA2
|
[NCBI]
|
9.32874e-16
|
|
|
lung cancer
|
[NCBI]
|
9.32874e-16
|
|