|
OMIM |
Link |
Information gain |
01 |
|
kabuki syndrome
|
[NCBI]
|
0.00812176
|
|
|
coffin-siris syndrome
|
[NCBI]
|
0.00483645
|
|
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
0.00459243
|
|
|
FRNS
|
[NCBI]
|
0.00441342
|
|
|
hennekam lymphangiectasia-lymphedema syndrome
|
[NCBI]
|
0.00413405
|
|
|
facial ectodermal dysplasia
|
[NCBI]
|
0.00410333
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
0.00350057
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.00326623
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.00297533
|
|
|
trichohepatoenteric syndrome
|
[NCBI]
|
0.00275316
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.00248654
|
|
|
UFS
|
[NCBI]
|
0.00220248
|
|
|
popliteal pterygium syndrome, lethal type
|
[NCBI]
|
0.00220248
|
|
|
kbg syndrome
|
[NCBI]
|
0.00220248
|
|
|
holoprosencephaly
|
[NCBI]
|
0.00218043
|
|
|
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging
|
[NCBI]
|
0.00209859
|
|
|
costello syndrome
|
[NCBI]
|
0.00198269
|
|
|
SLE
|
[NCBI]
|
0.00176095
|
|
|
cayler cardiofacial syndrome
|
[NCBI]
|
0.00169044
|
|
|
SRS
|
[NCBI]
|
0.00166444
|
|
|
omodysplasia
|
[NCBI]
|
0.00156984
|
|
|
CDLS1
|
[NCBI]
|
0.00154608
|
|
|
CF
|
[NCBI]
|
0.00144323
|
|
|
microcephalic osteodysplastic primordial dwarfism, type i
|
[NCBI]
|
0.0013302
|
|
|
WBS
|
[NCBI]
|
0.00130613
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
0.00110269
|
|
|
faciogenital dysplasia
|
[NCBI]
|
0.00110098
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.0010603
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
0.00105641
|
|
|
OFD4
|
[NCBI]
|
0.001034
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
0.00102305
|
|
|
faciodigitogenital syndrome, recessive
|
[NCBI]
|
0.000957456
|
|
|
microcephalic osteodysplastic primordial dwarfism, type iii
|
[NCBI]
|
0.000957456
|
|
|
cerebrofaciothoracic dysplasia
|
[NCBI]
|
0.000957456
|
|
|
hypertrichosis universalis
|
[NCBI]
|
0.000957456
|
|
|
prosopagnosia, hereditary
|
[NCBI]
|
0.000957456
|
|
|
FFS
|
[NCBI]
|
0.000878748
|
|
|
omodysplasia, generalized form
|
[NCBI]
|
0.000842588
|
|
|
ZLS
|
[NCBI]
|
0.000842588
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
0.000811189
|
|
|
COH1
|
[NCBI]
|
0.0008111
|
|
|
VDEGS
|
[NCBI]
|
0.000774531
|
|
|
frontofacionasal dysostosis
|
[NCBI]
|
0.000774531
|
|
|
RIEG2
|
[NCBI]
|
0.000774531
|
|
|
focal facial dermal dysplasia
|
[NCBI]
|
0.000774531
|
|
|
adducted thumb-clubfoot syndrome
|
[NCBI]
|
0.000774531
|
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome
|
[NCBI]
|
0.000720827
|
|
|
corneal hypesthesia, familial
|
[NCBI]
|
0.000687217
|
|
|
HFH
|
[NCBI]
|
0.000687217
|
|
|
larsen-like syndrome
|
[NCBI]
|
0.000687217
|
|
|
microcephaly, autosomal dominant
|
[NCBI]
|
0.000687217
|
|
|
anisomastia
|
[NCBI]
|
0.000687217
|
|
|
broad terminal phalanges, familial
|
[NCBI]
|
0.000687217
|
|
|
MRXS11
|
[NCBI]
|
0.000687217
|
|
|
fibromatosis, gingival, with progressive deafness
|
[NCBI]
|
0.000687217
|
|
|
FGS4
|
[NCBI]
|
0.000687217
|
|
|
polycystic kidney disease, potter type i, with microbrachycephaly, hypertelorism, and brachymelia
|
[NCBI]
|
0.000687217
|
|
|
van bogaert-hozay syndrome
|
[NCBI]
|
0.000687217
|
|
|
pitt syndrome
|
[NCBI]
|
0.000659141
|
|
|
syndactyly, type i, with microcephaly and mental retardation
|
[NCBI]
|
0.000652308
|
|
|
acromegaloid facial appearance syndrome
|
[NCBI]
|
0.000652308
|
|
|
chromosome 10q deletion syndrome
|
[NCBI]
|
0.000652308
|
|
|
OSCS
|
[NCBI]
|
0.000645888
|
|
|
DGS
|
[NCBI]
|
0.00064282
|
|
|
DA2A
|
[NCBI]
|
0.000589461
|
|
|
microcephalic osteodysplastic primordial dwarfism, type ii
|
[NCBI]
|
0.000561144
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
0.000561144
|
|
|
COFS1
|
[NCBI]
|
0.000558991
|
|
|
MRXHF1
|
[NCBI]
|
0.000535192
|
|
|
whistling face syndrome, recessive form
|
[NCBI]
|
0.00051717
|
|
|
ALGS1
|
[NCBI]
|
0.000507927
|
|
|
corpus callosum, agenesis of, with facial anomalies and robin sequence
|
[NCBI]
|
0.0004891
|
|
|
renal hamartomas, nephroblastomatosis, and fetal gigantism
|
[NCBI]
|
0.0004891
|
|
|
marshall-smith syndrome
|
[NCBI]
|
0.000475541
|
|
|
MCOPS2
|
[NCBI]
|
0.000460913
|
|
|
frontonasal dysplasia
|
[NCBI]
|
0.000419888
|
|
|
hunter-mcalpine craniosynostosis syndrome
|
[NCBI]
|
0.000404137
|
|
|
LRS1
|
[NCBI]
|
0.000404137
|
|
|
valproate embryopathy, susceptibility to
|
[NCBI]
|
0.000404137
|
|
|
leri pleonosteosis
|
[NCBI]
|
0.000386943
|
|
|
hyperimmunoglobulin e-recurrent infection syndrome, autosomal recessive
|
[NCBI]
|
0.000386943
|
|
|
mesomelia-synostoses syndrome
|
[NCBI]
|
0.000386943
|
|
|
kaufman oculocerebrofacial syndrome
|
[NCBI]
|
0.000386943
|
|
|
OFD8
|
[NCBI]
|
0.000386943
|
|
|
scholte syndrome
|
[NCBI]
|
0.000386943
|
|
|
CPL
|
[NCBI]
|
0.000386943
|
|
|
natural killer cell deficiency, familial isolated
|
[NCBI]
|
0.000386943
|
|
|
volvulus of midgut
|
[NCBI]
|
0.000386943
|
|
|
membranous cranial ossification, delayed
|
[NCBI]
|
0.000386943
|
|
|
brooks-wisniewski-brown syndrome
|
[NCBI]
|
0.000386943
|
|
|
otoonychoperoneal syndrome
|
[NCBI]
|
0.000386943
|
|
|
burn-mckeown syndrome
|
[NCBI]
|
0.000386943
|
|
|
acromicric dysplasia
|
[NCBI]
|
0.000386943
|
|
|
oculootofacial dysplasia
|
[NCBI]
|
0.000386943
|
|
|
congenital cataracts, facial dysmorphism, and neuropathy
|
[NCBI]
|
0.000381186
|
|
|
NS1
|
[NCBI]
|
0.000359023
|
|
|
FSHMD1A
|
[NCBI]
|
0.00034145
|
|
|
lymphedema, microcephaly, chorioretinopathy syndrome
|
[NCBI]
|
0.000338097
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.000338097
|
|
|
ODDD
|
[NCBI]
|
0.000337491
|
|
|
SGBS1
|
[NCBI]
|
0.000329962
|
|
|
mulibrey nanism
|
[NCBI]
|
0.000327138
|
|
|
AD
|
[NCBI]
|
0.000321574
|
|
|
ABS
|
[NCBI]
|
0.000297623
|
|
|
STL1
|
[NCBI]
|
0.000289125
|
|
|
SEMDJL
|
[NCBI]
|
0.000280282
|
|
|
FPLD1
|
[NCBI]
|
0.000280282
|
|
|
ASD1
|
[NCBI]
|
0.000280282
|
|
|
mullerian derivatives, persistence of, with lymphangiectasia and postaxial polydactyly
|
[NCBI]
|
0.000280282
|
|
|
nablus mask-like facial syndrome
|
[NCBI]
|
0.000280282
|
|
|
sabinas brittle hair syndrome
|
[NCBI]
|
0.000280282
|
|
|
OFD1
|
[NCBI]
|
0.000273669
|
|
|
SYNS1
|
[NCBI]
|
0.000273333
|
|
|
MG
|
[NCBI]
|
0.000267892
|
|
|
GCS1
|
[NCBI]
|
0.000261415
|
|
|
pterygia, mental retardation, and distinctive craniofacial features
|
[NCBI]
|
0.000261415
|
|
|
CPAF
|
[NCBI]
|
0.000261415
|
|
|
char syndrome
|
[NCBI]
|
0.000261415
|
|
|
WS1
|
[NCBI]
|
0.00025632
|
|
|
tight skin contracture syndrome, lethal
|
[NCBI]
|
0.000241609
|
|
|
weaver syndrome
|
[NCBI]
|
0.000241609
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.000240717
|
|
|
ruvalcaba syndrome
|
[NCBI]
|
0.000239357
|
|
|
fibromatosis, gingival, with hypertrichosis
|
[NCBI]
|
0.000239357
|
|
|
donnai-barrow syndrome
|
[NCBI]
|
0.000239357
|
|
|
clark-baraitser syndrome
|
[NCBI]
|
0.000239357
|
|
|
craniomicromelic syndrome
|
[NCBI]
|
0.000237224
|
|
|
pseudopapilledema, ocular hypotelorism, blepharophimosis, and hand anomalies
|
[NCBI]
|
0.000237224
|
|
|
blepharonasofacial malformation syndrome
|
[NCBI]
|
0.000237224
|
|
|
cleft lip/palate with characteristic facies, intestinal malrotation, and lethal congenital heart disease
|
[NCBI]
|
0.000237224
|
|
|
crane-heise syndrome
|
[NCBI]
|
0.000237224
|
|
|
arthrogryposis, distal, with mental retardation and characteristic facies
|
[NCBI]
|
0.000237224
|
|
|
scott craniodigital syndrome with mental retardation
|
[NCBI]
|
0.000237224
|
|
|
nasodigitoacoustic syndrome
|
[NCBI]
|
0.000237224
|
|
|
bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
|
[NCBI]
|
0.000237224
|
|
|
cerebrofacioarticular syndrome
|
[NCBI]
|
0.000237224
|
|
|
ATRX
|
[NCBI]
|
0.000232919
|
|
|
AHDS
|
[NCBI]
|
0.000232891
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
0.000224821
|
|
|
HRD
|
[NCBI]
|
0.000222182
|
|
|
SLOS
|
[NCBI]
|
0.000216118
|
|
|
hypertrichotic osteochondrodysplasia
|
[NCBI]
|
0.000214776
|
|
|
genitopatellar syndrome
|
[NCBI]
|
0.000214776
|
|
|
microcephaly with chorioretinopathy, autosomal recessive
|
[NCBI]
|
0.000214776
|
|
|
oculodentoosseous dysplasia, recessive
|
[NCBI]
|
0.000214776
|
|
|
sebaceous gland hyperplasia, familial presenile
|
[NCBI]
|
0.000214776
|
|
|
bullous dystrophy, hereditary macular type
|
[NCBI]
|
0.000214776
|
|
|
peho syndrome
|
[NCBI]
|
0.000214776
|
|
|
CLS
|
[NCBI]
|
0.00021129
|
|
|
SVAS
|
[NCBI]
|
0.00021129
|
|
|
OGD
|
[NCBI]
|
0.000208104
|
|
|
peters-plus syndrome
|
[NCBI]
|
0.000208104
|
|
|
DNMT3B
|
[NCBI]
|
0.00019655
|
|
|
sotos syndrome
|
[NCBI]
|
0.00019573
|
|
|
mowat-wilson syndrome
|
[NCBI]
|
0.000185847
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
0.000185847
|
|
|
carbimazole sensitivity
|
[NCBI]
|
0.000183555
|
|
|
neurofaciodigitorenal syndrome
|
[NCBI]
|
0.000183555
|
|
|
aarskog syndrome
|
[NCBI]
|
0.000183555
|
|
|
brachial amelia, forebrain defects, and facial clefts
|
[NCBI]
|
0.000183555
|
|
|
carnevale syndrome
|
[NCBI]
|
0.000183555
|
|
|
barber-say syndrome
|
[NCBI]
|
0.000183555
|
|
|
aminopterin syndrome sine aminopterin
|
[NCBI]
|
0.000183555
|
|
|
marshall syndrome
|
[NCBI]
|
0.000183555
|
|
|
fountain syndrome
|
[NCBI]
|
0.000183555
|
|
|
TRPS2
|
[NCBI]
|
0.000181453
|
|
|
CTHM
|
[NCBI]
|
0.000176737
|
|
|
WHS
|
[NCBI]
|
0.000175483
|
|
|
NLS
|
[NCBI]
|
0.000172527
|
|
|
TCOF
|
[NCBI]
|
0.000171832
|
|
|
cutis laxa, corneal clouding, and mental retardation
|
[NCBI]
|
0.000168818
|
|
|
collagenosis, familial reactive perforating
|
[NCBI]
|
0.000168818
|
|
|
OFD9
|
[NCBI]
|
0.000168818
|
|
|
pierre robin sequence with pectus excavatum and rib and scapular anomalies
|
[NCBI]
|
0.000168818
|
|
|
DA5
|
[NCBI]
|
0.000168818
|
|
|
HTC2
|
[NCBI]
|
0.000168818
|
|
|
lateral meningocele syndrome
|
[NCBI]
|
0.000168818
|
|
|
gapo syndrome
|
[NCBI]
|
0.000168818
|
|
|
TFAP2B
|
[NCBI]
|
0.000163979
|
|
|
CPI
|
[NCBI]
|
0.000162528
|
|
|
RIEG1
|
[NCBI]
|
0.00015962
|
|
|
fryns microphthalmia syndrome
|
[NCBI]
|
0.000159536
|
|
|
microcephaly with chemotactic defect and transient hypogammaglobulinemia
|
[NCBI]
|
0.000159536
|
|
|
chondrodysplasia punctata, autosomal dominant
|
[NCBI]
|
0.00014842
|
|
|
scalp-ear-nipple syndrome
|
[NCBI]
|
0.000143184
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
0.000143184
|
|
|
serpentine fibula-polycystic kidney syndrome
|
[NCBI]
|
0.000143184
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
0.000141807
|
|
|
NHS
|
[NCBI]
|
0.000137501
|
|
|
CMDR
|
[NCBI]
|
0.000134373
|
|
|
camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases
|
[NCBI]
|
0.000134373
|
|
|
kenny-caffey syndrome, type 2
|
[NCBI]
|
0.000134373
|
|
|
trichorrhexis nodosa syndrome
|
[NCBI]
|
0.000134373
|
|
|
fibrochondrogenesis
|
[NCBI]
|
0.000134373
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
0.000132604
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
0.000130753
|
|
|
subglottic bar
|
[NCBI]
|
0.000130753
|
|
|
floating-harbor syndrome
|
[NCBI]
|
0.000130753
|
|
|
AFD1
|
[NCBI]
|
0.000128023
|
|
|
MADA
|
[NCBI]
|
0.000123722
|
|
|
MSS
|
[NCBI]
|
0.000119671
|
|
|
microcephaly-deafness syndrome
|
[NCBI]
|
0.000118594
|
|
|
craniosynostosis, calcification of basal ganglia, and facial dysmorphism
|
[NCBI]
|
0.000118594
|
|
|
sao paulo mca/mr syndrome
|
[NCBI]
|
0.000118594
|
|
|
GEMSS
|
[NCBI]
|
0.000118594
|
|
|
mental retardation, short stature, facial anomalies, and joint dislocations
|
[NCBI]
|
0.000118594
|
|
|
facial dysmorphism with multiple malformations
|
[NCBI]
|
0.000118594
|
|
|
disproportionate short stature with ptosis and valvular heart lesions
|
[NCBI]
|
0.000118594
|
|
|
pfeiffer-palm-teller syndrome
|
[NCBI]
|
0.000118594
|
|
|
noonan syndrome 3
|
[NCBI]
|
0.000118594
|
|
|
pierre robin sequence with facial and digital anomalies
|
[NCBI]
|
0.000118594
|
|
|
cystic fibrosis with helicobacter pylori gastritis, megaloblastic anemia, and subnormal mentality
|
[NCBI]
|
0.000118594
|
|
|
microcephaly-cardiomyopathy
|
[NCBI]
|
0.000118594
|
|
|
radioulnar synostosis, unilateral, with developmental retardation and hypotonia
|
[NCBI]
|
0.000118594
|
|
|
hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features
|
[NCBI]
|
0.000118594
|
|
|
cataract, aberrant oral frenula, and growth retardation
|
[NCBI]
|
0.000118594
|
|
|
arthrogryposis, distal, with peculiar facies and hydronephrosis
|
[NCBI]
|
0.000118594
|
|
|
frontonasal dysplasia with alar clefts
|
[NCBI]
|
0.000118594
|
|
|
microcephaly, facial abnormalities, micromelia, and mental retardation
|
[NCBI]
|
0.000118594
|
|
|
ectodermal dysplasia with mental retardation and syndactyly
|
[NCBI]
|
0.000118594
|
|
|
cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation
|
[NCBI]
|
0.000118594
|
|
|
short stature syndrome, brussels type
|
[NCBI]
|
0.000118594
|
|
|
lambotte syndrome
|
[NCBI]
|
0.000118594
|
|
|
facial dysmorphism, selective tooth agenesis, and choroid calcification
|
[NCBI]
|
0.000118594
|
|
|
megarbane syndrome
|
[NCBI]
|
0.000118594
|
|
|
ectodermal dysplasia, sensorineural hearing loss, and distinctive facial features
|
[NCBI]
|
0.000118594
|
|
|
frontonasal dysplasia
|
[NCBI]
|
0.000118594
|
|
|
blepharophimosis with facial and genital anomalies and mental retardation
|
[NCBI]
|
0.000118594
|
|
|
corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation
|
[NCBI]
|
0.000118594
|
|
|
arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
|
[NCBI]
|
0.000118594
|
|
|
brachytelephalangy with characteristic facies and kallmann syndrome
|
[NCBI]
|
0.000118594
|
|
|
scarf syndrome
|
[NCBI]
|
0.000118594
|
|
|
multicore myopathy with mental retardation, short stature, and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000118594
|
|
|
subaortic stenosis--short stature syndrome
|
[NCBI]
|
0.000118594
|
|
|
amelia, autosomal recessive
|
[NCBI]
|
0.000118594
|
|
|
mental retardation, microcephaly, epilepsy, and coarse face
|
[NCBI]
|
0.000118594
|
|
|
hall-riggs mental retardation syndrome
|
[NCBI]
|
0.000118594
|
|
|
cyprus facial neuromusculoskeletal syndrome
|
[NCBI]
|
0.000118594
|
|
|
macdermot-winter syndrome
|
[NCBI]
|
0.000118594
|
|
|
lowry-maclean syndrome
|
[NCBI]
|
0.000118594
|
|
|
tetralogy of fallot syndrome, autosomal recessive
|
[NCBI]
|
0.000118594
|
|
|
dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism
|
[NCBI]
|
0.000118594
|
|
|
fallot complex with severe mental and growth retardation
|
[NCBI]
|
0.000118594
|
|
|
faciothoracogenital syndrome
|
[NCBI]
|
0.000118594
|
|
|
STQTL9
|
[NCBI]
|
0.000118594
|
|
|
porencephaly, cerebellar hypoplasia, and internal malformations
|
[NCBI]
|
0.000118594
|
|
|
arthrogryposis, distal, type 2e
|
[NCBI]
|
0.000118594
|
|
|
dwarfism with stiff joints and ocular abnormalities
|
[NCBI]
|
0.000118594
|
|
|
microcephaly and digital abnormalities with normal intelligence
|
[NCBI]
|
0.000118594
|
|
|
trisomy 18-like syndrome
|
[NCBI]
|
0.000118594
|
|
|
edinburgh malformation syndrome
|
[NCBI]
|
0.000118594
|
|
|
palant cleft palate syndrome
|
[NCBI]
|
0.000118594
|
|
|
cranioacrofacial syndrome
|
[NCBI]
|
0.000118594
|
|
|
cerebral malformation, seizures, hypertrichosis, and overlapping fingers
|
[NCBI]
|
0.000118594
|
|
|
spondyloepiphyseal dysplasia tarda with characteristic facies
|
[NCBI]
|
0.000118594
|
|
|
cleft palate, midfacial hypoplasia, triangular facies, and sensorineural hearing loss
|
[NCBI]
|
0.000118594
|
|
|
aortic arch anomaly with peculiar facies and mental retardation
|
[NCBI]
|
0.000118594
|
|
|
oral and digital anomalies with ichthyosis
|
[NCBI]
|
0.000118594
|
|
|
incisors, lower central, absence of
|
[NCBI]
|
0.000118594
|
|
|
partington-anderson syndrome
|
[NCBI]
|
0.000118594
|
|
|
dextrocardia with unusual facies and microphthalmia
|
[NCBI]
|
0.000118594
|
|
|
wolff mental retardation syndrome
|
[NCBI]
|
0.000118594
|
|
|
craniostenosis, sagittal, with congenital heart disease, mental deficiency, and mandibular ankylosis
|
[NCBI]
|
0.000118594
|
|
|
TBCE
|
[NCBI]
|
0.000114768
|
|
|
KCS
|
[NCBI]
|
0.000112366
|
|
|
three m syndrome
|
[NCBI]
|
0.000112366
|
|
|
ATRX
|
[NCBI]
|
0.000108786
|
|
|
microcephaly, hiatus hernia, and nephrotic syndrome
|
[NCBI]
|
0.000107537
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.000107537
|
|
|
dysgnathia complex
|
[NCBI]
|
0.000107537
|
|
|
distichiasis
|
[NCBI]
|
0.000107537
|
|
|
FA
|
[NCBI]
|
0.000105836
|
|
|
FTD
|
[NCBI]
|
0.000105836
|
|
|
OKS
|
[NCBI]
|
0.000105517
|
|
|
multiple pterygium syndrome, lethal type
|
[NCBI]
|
0.000105187
|
|
|
GINGF
|
[NCBI]
|
0.000105187
|
|
|
PAX3
|
[NCBI]
|
0.000103197
|
|
|
ZEB2
|
[NCBI]
|
0.000100533
|
|
|
proteus syndrome
|
[NCBI]
|
9.68666e-05
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
9.10978e-05
|
|
|
PKS
|
[NCBI]
|
8.87669e-05
|
|
|
seckel syndrome 1
|
[NCBI]
|
8.83721e-05
|
|
|
chromosome 22q13.3 deletion syndrome
|
[NCBI]
|
8.83721e-05
|
|
|
skin creases, multiple benign ring-shaped, of limbs
|
[NCBI]
|
8.61095e-05
|
|
|
maxillonasal dysplasia, binder type
|
[NCBI]
|
8.61095e-05
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
8.61095e-05
|
|
|
laurin-sandrow syndrome
|
[NCBI]
|
8.61095e-05
|
|
|
short rib-polydactyly syndrome, type iv
|
[NCBI]
|
8.61095e-05
|
|
|
OD
|
[NCBI]
|
8.56756e-05
|
|
|
ALDH2
|
[NCBI]
|
8.51691e-05
|
|
|
c syndrome
|
[NCBI]
|
8.38625e-05
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
8.38625e-05
|
|
|
BFLS
|
[NCBI]
|
8.38625e-05
|
|
|
BDB2
|
[NCBI]
|
7.97507e-05
|
|
|
tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities
|
[NCBI]
|
7.97507e-05
|
|
|
renal dysplasia-limb defects syndrome
|
[NCBI]
|
7.97507e-05
|
|
|
acrofacial dysostosis, catania type
|
[NCBI]
|
7.97507e-05
|
|
|
cerebral palsy, spastic, symmetric, autosomal recessive
|
[NCBI]
|
7.97507e-05
|
|
|
dk phocomelia syndrome
|
[NCBI]
|
7.97507e-05
|
|
|
pterygium colli and mental retardation with facial and digital anomalies
|
[NCBI]
|
7.97507e-05
|
|
|
hydronephrosis, congenital, with cleft palate, characteristic facies, hypotonia, and mental retardation
|
[NCBI]
|
7.97507e-05
|
|
|
spondyloocular syndrome, autosomal recessive
|
[NCBI]
|
7.97507e-05
|
|
|
micromelic dysplasia, congenital, with dislocation of radius
|
[NCBI]
|
7.97507e-05
|
|
|
simpson-golabi-behmel syndrome, type 2
|
[NCBI]
|
7.97507e-05
|
|
|
renal, genital, and middle ear anomalies
|
[NCBI]
|
7.97507e-05
|
|
|
hirsutism--skeletal dysplasia--mental retardation syndrome
|
[NCBI]
|
7.97507e-05
|
|
|
stratton-parker syndrome
|
[NCBI]
|
7.97507e-05
|
|
|
faciocardiorenal syndrome
|
[NCBI]
|
7.97507e-05
|
|
|
pallister w syndrome
|
[NCBI]
|
7.97507e-05
|
|
|
congenital disorder of glycosylation, type i/iix
|
[NCBI]
|
7.97507e-05
|
|
|
OPD2
|
[NCBI]
|
7.97507e-05
|
|
|
craniosynostosis-mental retardation syndrome of lin and gettig
|
[NCBI]
|
7.97507e-05
|
|
|
furlong syndrome: fs
|
[NCBI]
|
7.97507e-05
|
|
|
multiple pterygium syndrome, aslan type
|
[NCBI]
|
7.97507e-05
|
|
|
mcdonough syndrome
|
[NCBI]
|
7.97507e-05
|
|
|
camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
|
[NCBI]
|
7.97507e-05
|
|
|
cleft palate, cardiac defect, genital anomalies, and ectrodactyly
|
[NCBI]
|
7.97507e-05
|
|
|
phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia
|
[NCBI]
|
7.97507e-05
|
|
|
telecanthus
|
[NCBI]
|
7.97507e-05
|
|
|
martsolf syndrome
|
[NCBI]
|
7.97507e-05
|
|
|
chondrodysplasia punctata syndrome
|
[NCBI]
|
7.97507e-05
|
|
|
tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities
|
[NCBI]
|
7.97507e-05
|
|
|
chondrodysplasia punctata, tibia-metacarpal type
|
[NCBI]
|
7.97507e-05
|
|
|
teebi-shaltout syndrome
|
[NCBI]
|
7.97507e-05
|
|
|
otofaciocervical syndrome
|
[NCBI]
|
7.97507e-05
|
|
|
STL2
|
[NCBI]
|
7.97507e-05
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
7.76147e-05
|
|
|
feingold syndrome
|
[NCBI]
|
7.59772e-05
|
|
|
MDLS
|
[NCBI]
|
7.56177e-05
|
|
|
RSTS
|
[NCBI]
|
7.00179e-05
|
|
|
donohue syndrome
|
[NCBI]
|
6.92663e-05
|
|
|
POADS
|
[NCBI]
|
6.87257e-05
|
|
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
6.87257e-05
|
|
|
constricting bands, congenital
|
[NCBI]
|
6.87257e-05
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
6.87257e-05
|
|
|
AMCN
|
[NCBI]
|
6.87257e-05
|
|
|
HTC1
|
[NCBI]
|
6.87257e-05
|
|
|
andersen cardiodysrhythmic periodic paralysis
|
[NCBI]
|
6.62604e-05
|
|
|
ichthyosis--cheek--eyebrow syndrome
|
[NCBI]
|
6.53598e-05
|
|
|
brachycephaly, deafness, cataract, microstomia, and mental retardation
|
[NCBI]
|
6.53598e-05
|
|
|
kniest-like dysplasia with pursed lips and ectopia lentis
|
[NCBI]
|
6.53598e-05
|
|
|
cutis gyrata syndrome of beare and stevenson
|
[NCBI]
|
6.53598e-05
|
|
|
PTHS
|
[NCBI]
|
6.53598e-05
|
|
|
rhizomelic syndrome
|
[NCBI]
|
6.53598e-05
|
|
|
STL3
|
[NCBI]
|
6.53598e-05
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
6.53598e-05
|
|
|
nicolaides-baraitser syndrome
|
[NCBI]
|
6.53598e-05
|
|
|
CDG1B
|
[NCBI]
|
6.53598e-05
|
|
|
progeroid short stature with pigmented nevi
|
[NCBI]
|
6.53598e-05
|
|
|
split-foot deformity with mandibulofacial dysostosis
|
[NCBI]
|
6.53598e-05
|
|
|
atkin-flaitz syndrome
|
[NCBI]
|
6.53598e-05
|
|
|
brachydactyly, preaxial, with hallux varus and thumb abduction
|
[NCBI]
|
6.53598e-05
|
|
|
tetra-amelia, x-linked
|
[NCBI]
|
6.53598e-05
|
|
|
zunich neuroectodermal syndrome
|
[NCBI]
|
6.53598e-05
|
|
|
COL11A1
|
[NCBI]
|
6.43535e-05
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
6.34515e-05
|
|
|
PQBP1
|
[NCBI]
|
6.17323e-05
|
|
|
MTS
|
[NCBI]
|
6.08184e-05
|
|
|
MEN2B
|
[NCBI]
|
6.08184e-05
|
|
|
COMT
|
[NCBI]
|
6.07732e-05
|
|
|
GOT1
|
[NCBI]
|
6.0583e-05
|
|
|
ROR2
|
[NCBI]
|
5.95197e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
5.88451e-05
|
|
|
MKS1
|
[NCBI]
|
5.74298e-05
|
|
|
INSR
|
[NCBI]
|
5.66164e-05
|
|
|
stapes ankylosis with broad thumb and toes
|
[NCBI]
|
5.61664e-05
|
|
|
rapadilino syndrome
|
[NCBI]
|
5.61664e-05
|
|
|
ramon syndrome
|
[NCBI]
|
5.61664e-05
|
|
|
axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
|
[NCBI]
|
5.61664e-05
|
|
|
WZS
|
[NCBI]
|
5.61664e-05
|
|
|
shprintzen-goldberg craniosynostosis syndrome
|
[NCBI]
|
5.61664e-05
|
|
|
c-like syndrome
|
[NCBI]
|
5.61664e-05
|
|
|
PURE&apos
|
[NCBI]
|
5.61664e-05
|
|
|
corpus callosum, partial agenesis of, x-linked
|
[NCBI]
|
5.61664e-05
|
|
|
CDHS
|
[NCBI]
|
5.61664e-05
|
|
|
mental retardation with epilepsy and characteristic facies
|
[NCBI]
|
5.61664e-05
|
|
|
syndactyly, type iii
|
[NCBI]
|
5.61664e-05
|
|
|
gracile bone dysplasia
|
[NCBI]
|
5.61664e-05
|
|
|
oculopalatoskeletal syndrome
|
[NCBI]
|
5.61664e-05
|
|
|
EPHX1
|
[NCBI]
|
5.59194e-05
|
|
|
BPES
|
[NCBI]
|
5.47158e-05
|
|
|
DBQD
|
[NCBI]
|
5.44812e-05
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
5.44812e-05
|
|
|
KCNJ11
|
[NCBI]
|
5.44126e-05
|
|
|
CNC1
|
[NCBI]
|
5.38052e-05
|
|
|
GPC3
|
[NCBI]
|
5.1809e-05
|
|
|
SHH
|
[NCBI]
|
5.1706e-05
|
|
|
NOG
|
[NCBI]
|
5.12268e-05
|
|
|
MACROD2
|
[NCBI]
|
5.09086e-05
|
|
|
ACLS
|
[NCBI]
|
4.97388e-05
|
|
|
macrocephaly/autism syndrome
|
[NCBI]
|
4.94416e-05
|
|
|
young-simpson syndrome
|
[NCBI]
|
4.94416e-05
|
|
|
MRX59
|
[NCBI]
|
4.94416e-05
|
|
|
acrorenal-mandibular syndrome
|
[NCBI]
|
4.94416e-05
|
|
|
macrocephaly, benign familial
|
[NCBI]
|
4.94416e-05
|
|
|
winchester syndrome
|
[NCBI]
|
4.94416e-05
|
|
|
polydactyly, preaxial iv
|
[NCBI]
|
4.94416e-05
|
|
|
AVSD2
|
[NCBI]
|
4.94416e-05
|
|
|
TCPT
|
[NCBI]
|
4.94416e-05
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
4.94416e-05
|
|
|
LVNCX
|
[NCBI]
|
4.94416e-05
|
|
|
spondyloperipheral dysplasia
|
[NCBI]
|
4.94416e-05
|
|
|
TRPS3
|
[NCBI]
|
4.94416e-05
|
|
|
aprosencephaly syndrome
|
[NCBI]
|
4.94416e-05
|
|
|
RBS
|
[NCBI]
|
4.78579e-05
|
|
|
KRAS
|
[NCBI]
|
4.77122e-05
|
|
|
PAFAH1B1
|
[NCBI]
|
4.68509e-05
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
4.6068e-05
|
|
|
CMTC
|
[NCBI]
|
4.4362e-05
|
|
|
BOR1
|
[NCBI]
|
4.4362e-05
|
|
|
BOCD
|
[NCBI]
|
4.41707e-05
|
|
|
omphalocele
|
[NCBI]
|
4.41707e-05
|
|
|
keutel syndrome
|
[NCBI]
|
4.41707e-05
|
|
|
PBT
|
[NCBI]
|
4.41707e-05
|
|
|
ankyloblepharon-ectodermal defects-cleft lip/palate
|
[NCBI]
|
4.41707e-05
|
|
|
cerebrofrontofacial syndrome
|
[NCBI]
|
4.41707e-05
|
|
|
aglossia-adactylia
|
[NCBI]
|
4.41707e-05
|
|
|
OCD1
|
[NCBI]
|
4.41707e-05
|
|
|
PNDM
|
[NCBI]
|
4.41707e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
4.38552e-05
|
|
|
JBTS1
|
[NCBI]
|
4.34035e-05
|
|
|
ear, patella, short stature syndrome
|
[NCBI]
|
4.27452e-05
|
|
|
SJS1
|
[NCBI]
|
4.2734e-05
|
|
|
PHS
|
[NCBI]
|
4.11784e-05
|
|
|
CTDP1
|
[NCBI]
|
4.0931e-05
|
|
|
ARVCF
|
[NCBI]
|
4.0931e-05
|
|
|
twirler mutation, murine, human homolog of
|
[NCBI]
|
4.0931e-05
|
|
|
LIX1
|
[NCBI]
|
4.0931e-05
|
|
|
npl4, s. cerevisiae, homolog of
|
[NCBI]
|
4.0931e-05
|
|
|
YPEL1
|
[NCBI]
|
4.0931e-05
|
|
|
GNAS
|
[NCBI]
|
4.05711e-05
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
3.99674e-05
|
|
|
JWS
|
[NCBI]
|
3.98605e-05
|
|
|
LDS
|
[NCBI]
|
3.98605e-05
|
|
|
short syndrome
|
[NCBI]
|
3.98605e-05
|
|
|
spondylocarpotarsal synostosis syndrome
|
[NCBI]
|
3.98605e-05
|
|
|
deafness, congenital, with keratopachydermia and constrictions of fingers and toes
|
[NCBI]
|
3.98605e-05
|
|
|
SPMM
|
[NCBI]
|
3.98605e-05
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
3.98605e-05
|
|
|
intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked
|
[NCBI]
|
3.98605e-05
|
|
|
lujan-fryns syndrome
|
[NCBI]
|
3.98605e-05
|
|
|
JBTS3
|
[NCBI]
|
3.98605e-05
|
|
|
myopathy, centronuclear, autosomal dominant
|
[NCBI]
|
3.98605e-05
|
|
|
SMS
|
[NCBI]
|
3.7503e-05
|
|
|
EEC1
|
[NCBI]
|
3.71899e-05
|
|
|
CLDN5
|
[NCBI]
|
3.71689e-05
|
|
|
MGAT2
|
[NCBI]
|
3.71689e-05
|
|
|
HOXA2
|
[NCBI]
|
3.71689e-05
|
|
|
FLRT3
|
[NCBI]
|
3.71689e-05
|
|
|
DLGAP3
|
[NCBI]
|
3.71689e-05
|
|
|
BARX1
|
[NCBI]
|
3.71689e-05
|
|
|
HSCR1
|
[NCBI]
|
3.65358e-05
|
|
|
ablepharon-macrostomia syndrome
|
[NCBI]
|
3.62332e-05
|
|
|
RENS1
|
[NCBI]
|
3.62332e-05
|
|
|
tetralogy of fallot
|
[NCBI]
|
3.62332e-05
|
|
|
catel-manzke syndrome
|
[NCBI]
|
3.62332e-05
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
3.62332e-05
|
|
|
disorganization, mouse, homolog of
|
[NCBI]
|
3.62332e-05
|
|
|
CDG2A
|
[NCBI]
|
3.62332e-05
|
|
|
SCDO1
|
[NCBI]
|
3.55887e-05
|
|
|
polycystic kidneys
|
[NCBI]
|
3.52316e-05
|
|
|
CUL7
|
[NCBI]
|
3.47279e-05
|
|
|
COH1
|
[NCBI]
|
3.47279e-05
|
|
|
OPTB3
|
[NCBI]
|
3.31163e-05
|
|
|
RNS
|
[NCBI]
|
3.31163e-05
|
|
|
crouzon syndrome
|
[NCBI]
|
3.31163e-05
|
|
|
KNO
|
[NCBI]
|
3.31163e-05
|
|
|
LMS
|
[NCBI]
|
3.31163e-05
|
|
|
EEC3
|
[NCBI]
|
3.31163e-05
|
|
|
PCA
|
[NCBI]
|
3.30595e-05
|
|
|
BCOR
|
[NCBI]
|
3.29143e-05
|
|
|
AP1S2
|
[NCBI]
|
3.29143e-05
|
|
|
NHS
|
[NCBI]
|
3.29143e-05
|
|
|
CLTCL1
|
[NCBI]
|
3.29143e-05
|
|
|
TNF
|
[NCBI]
|
3.25117e-05
|
|
|
temporal arteritis
|
[NCBI]
|
3.24521e-05
|
|
|
AS
|
[NCBI]
|
3.22885e-05
|
|
|
FAM20C
|
[NCBI]
|
3.14703e-05
|
|
|
DYNLL1
|
[NCBI]
|
3.14703e-05
|
|
|
GP9
|
[NCBI]
|
3.14703e-05
|
|
|
DLX2
|
[NCBI]
|
3.14703e-05
|
|
|
GJA1
|
[NCBI]
|
3.06697e-05
|
|
|
LIS1
|
[NCBI]
|
3.03958e-05
|
|
|
rokitansky-kuster-hauser syndrome
|
[NCBI]
|
3.03958e-05
|
|
|
oculocerebrocutaneous syndrome
|
[NCBI]
|
3.03958e-05
|
|
|
BDB1
|
[NCBI]
|
3.03958e-05
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
3.03958e-05
|
|
|
CXORF5
|
[NCBI]
|
3.02705e-05
|
|
|
DGCR14
|
[NCBI]
|
3.02705e-05
|
|
|
GP1BB
|
[NCBI]
|
3.02705e-05
|
|
|
chromosome 17q21.31 microdeletion syndrome
|
[NCBI]
|
3.02705e-05
|
|
|
PFKP
|
[NCBI]
|
2.92443e-05
|
|
|
SIM2
|
[NCBI]
|
2.92443e-05
|
|
|
PHOX2B
|
[NCBI]
|
2.92443e-05
|
|
|
VEGF
|
[NCBI]
|
2.85175e-05
|
|
|
C1NH
|
[NCBI]
|
2.83479e-05
|
|
|
GTF2IRD1
|
[NCBI]
|
2.83479e-05
|
|
|
HSPG2
|
[NCBI]
|
2.83479e-05
|
|
|
TFAP2C
|
[NCBI]
|
2.83479e-05
|
|
|
IRID1
|
[NCBI]
|
2.79919e-05
|
|
|
exostoses, multiple, type ii
|
[NCBI]
|
2.79919e-05
|
|
|
neural tube defects
|
[NCBI]
|
2.79919e-05
|
|
|
ulna and fibula, absence of, with severe limb deficiency
|
[NCBI]
|
2.79919e-05
|
|
|
HSS
|
[NCBI]
|
2.79919e-05
|
|
|
PDP
|
[NCBI]
|
2.79919e-05
|
|
|
SOST
|
[NCBI]
|
2.79919e-05
|
|
|
LADD
|
[NCBI]
|
2.79919e-05
|
|
|
TCF4
|
[NCBI]
|
2.75521e-05
|
|
|
FBLN1
|
[NCBI]
|
2.75521e-05
|
|
|
FGD1
|
[NCBI]
|
2.68369e-05
|
|
|
DHCR7
|
[NCBI]
|
2.68369e-05
|
|
|
TFAP2A
|
[NCBI]
|
2.61874e-05
|
|
|
COL11A2
|
[NCBI]
|
2.61874e-05
|
|
|
SEPT5
|
[NCBI]
|
2.61874e-05
|
|
|
JK
|
[NCBI]
|
2.61874e-05
|
|
|
KAL2
|
[NCBI]
|
2.58467e-05
|
|
|
HPE2
|
[NCBI]
|
2.58467e-05
|
|
|
HSAN2
|
[NCBI]
|
2.58467e-05
|
|
|
HPE3
|
[NCBI]
|
2.58467e-05
|
|
|
kniest dysplasia
|
[NCBI]
|
2.58467e-05
|
|
|
SKI
|
[NCBI]
|
2.55927e-05
|
|
|
MEF2C
|
[NCBI]
|
2.55927e-05
|
|
|
PRODH
|
[NCBI]
|
2.55927e-05
|
|
|
SLC25A1
|
[NCBI]
|
2.50442e-05
|
|
|
ERCC6
|
[NCBI]
|
2.50442e-05
|
|
|
APAF1
|
[NCBI]
|
2.50442e-05
|
|
|
TGFBR1
|
[NCBI]
|
2.45355e-05
|
|
|
CNR1
|
[NCBI]
|
2.40612e-05
|
|
|
ALDOA
|
[NCBI]
|
2.40612e-05
|
|
|
KCNJ2
|
[NCBI]
|
2.40612e-05
|
|
|
dyschromatosis symmetrica hereditaria 1
|
[NCBI]
|
2.3917e-05
|
|
|
SPG2
|
[NCBI]
|
2.3917e-05
|
|
|
infantile spasm syndrome, x-linked
|
[NCBI]
|
2.3917e-05
|
|
|
SLC16A2
|
[NCBI]
|
2.36169e-05
|
|
|
TBX1
|
[NCBI]
|
2.31991e-05
|
|
|
PTPN11
|
[NCBI]
|
2.28049e-05
|
|
|
MAN2B1
|
[NCBI]
|
2.28049e-05
|
|
|
FOXC1
|
[NCBI]
|
2.28049e-05
|
|
|
BRAF
|
[NCBI]
|
2.24318e-05
|
|
|
TP73L
|
[NCBI]
|
2.24318e-05
|
|
|
potocki-shaffer syndrome
|
[NCBI]
|
2.21695e-05
|
|
|
myxoma, intracardiac
|
[NCBI]
|
2.21695e-05
|
|
|
palatopharyngeal incompetence
|
[NCBI]
|
2.20425e-05
|
|
|
HMGA2
|
[NCBI]
|
2.14194e-05
|
|
|
ERCC2
|
[NCBI]
|
2.11123e-05
|
|
|
TGFBR2
|
[NCBI]
|
2.11123e-05
|
|
|
MTM1
|
[NCBI]
|
2.08183e-05
|
|
|
NETH
|
[NCBI]
|
2.05781e-05
|
|
|
bartter syndrome, type 3
|
[NCBI]
|
2.05781e-05
|
|
|
ichthyosis congenita, harlequin fetus type
|
[NCBI]
|
2.05781e-05
|
|
|
cutis laxa, autosomal recessive, type i
|
[NCBI]
|
2.05781e-05
|
|
|
TTDP
|
[NCBI]
|
2.05781e-05
|
|
|
GLI3
|
[NCBI]
|
2.05362e-05
|
|
|
PTHR1
|
[NCBI]
|
2.02653e-05
|
|
|
CAV3
|
[NCBI]
|
1.97535e-05
|
|
|
PITX2
|
[NCBI]
|
1.92772e-05
|
|
|
CDPX1
|
[NCBI]
|
1.9122e-05
|
|
|
AGTR1
|
[NCBI]
|
1.9051e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
1.8832e-05
|
|
|
TSC2
|
[NCBI]
|
1.82144e-05
|
|
|
CFTD
|
[NCBI]
|
1.77841e-05
|
|
|
septooptic dysplasia
|
[NCBI]
|
1.77841e-05
|
|
|
HRAS
|
[NCBI]
|
1.747e-05
|
|
|
MTM1
|
[NCBI]
|
1.7412e-05
|
|
|
methylmalonic aciduria and homocystinuria, cblc type
|
[NCBI]
|
1.65507e-05
|
|
|
ELN
|
[NCBI]
|
1.63377e-05
|
|
|
GSR
|
[NCBI]
|
1.61906e-05
|
|
|
MLL
|
[NCBI]
|
1.61906e-05
|
|
|
ZS
|
[NCBI]
|
1.57345e-05
|
|
|
SMMCI
|
[NCBI]
|
1.541e-05
|
|
|
COL2A1
|
[NCBI]
|
1.53706e-05
|
|
|
IDUA
|
[NCBI]
|
1.52434e-05
|
|
|
GSC
|
[NCBI]
|
1.51185e-05
|
|
|
hyperimmunoglobulin e recurrent infection syndrome, autosomal dominant
|
[NCBI]
|
1.43522e-05
|
|
|
PHA
|
[NCBI]
|
1.43522e-05
|
|
|
MNS
|
[NCBI]
|
1.43522e-05
|
|
|
EFE
|
[NCBI]
|
1.43522e-05
|
|
|
HAE
|
[NCBI]
|
1.43522e-05
|
|
|
HNA
|
[NCBI]
|
1.43522e-05
|
|
|
JBS
|
[NCBI]
|
1.43522e-05
|
|
|
phenylketonuria
|
[NCBI]
|
1.43059e-05
|
|
|
PAX6
|
[NCBI]
|
1.37822e-05
|
|
|
PPS
|
[NCBI]
|
1.33692e-05
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
1.32523e-05
|
|
|
phosphoribosylpyrophosphate synthetase superactivity
|
[NCBI]
|
1.24536e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
1.24536e-05
|
|
|
PFM
|
[NCBI]
|
1.15995e-05
|
|
|
GUSB
|
[NCBI]
|
1.14545e-05
|
|
|
CCD
|
[NCBI]
|
1.10528e-05
|
|
|
ABCC8
|
[NCBI]
|
1.07984e-05
|
|
|
PTN
|
[NCBI]
|
1.06149e-05
|
|
|
FGFR1
|
[NCBI]
|
1.04955e-05
|
|
|
PSEN1
|
[NCBI]
|
1.01515e-05
|
|
|
BMP4
|
[NCBI]
|
1.0096e-05
|
|
|
mucolipidosis iv
|
[NCBI]
|
1.00548e-05
|
|
|
charge syndrome
|
[NCBI]
|
1.00548e-05
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
9.43683e-06
|
|
|
EVC
|
[NCBI]
|
9.35534e-06
|
|
|
PI
|
[NCBI]
|
9.32254e-06
|
|
|
MFS
|
[NCBI]
|
9.17228e-06
|
|
|
CDG1A
|
[NCBI]
|
8.69955e-06
|
|
|
FGFR3
|
[NCBI]
|
8.39152e-06
|
|
|
TH
|
[NCBI]
|
8.0708e-06
|
|
|
HFM
|
[NCBI]
|
7.9559e-06
|
|
|
MCOPS7
|
[NCBI]
|
7.50629e-06
|
|
|
IHH
|
[NCBI]
|
7.42374e-06
|
|
|
HHF1
|
[NCBI]
|
5.52181e-06
|
|
|
CDK5
|
[NCBI]
|
5.28066e-06
|
|
|
BCNS
|
[NCBI]
|
4.76836e-06
|
|
|
CRH
|
[NCBI]
|
4.55012e-06
|
|
|
PNMT
|
[NCBI]
|
4.5438e-06
|
|
|
SCS
|
[NCBI]
|
4.32288e-06
|
|
|
GDNF
|
[NCBI]
|
4.31366e-06
|
|
|
EGFR
|
[NCBI]
|
3.98797e-06
|
|
|
BRRS
|
[NCBI]
|
3.97004e-06
|
|
|
BDNF
|
[NCBI]
|
3.82688e-06
|
|
|
GCPS
|
[NCBI]
|
3.6385e-06
|
|
|
ARPKD
|
[NCBI]
|
3.6385e-06
|
|
|
campomelic dysplasia
|
[NCBI]
|
3.32712e-06
|
|
|
PCNA
|
[NCBI]
|
3.17021e-06
|
|
|
PRL
|
[NCBI]
|
3.16017e-06
|
|
|
lipomatosis, multiple
|
[NCBI]
|
3.06645e-06
|
|
|
BWS
|
[NCBI]
|
2.93318e-06
|
|
|
APOE
|
[NCBI]
|
2.63407e-06
|
|
|
VWS
|
[NCBI]
|
2.26371e-06
|
|
|
MHS1
|
[NCBI]
|
2.26371e-06
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
2.0391e-06
|
|
|
MVP
|
[NCBI]
|
1.5665e-06
|
|
|
HNPP
|
[NCBI]
|
1.45257e-06
|
|
|
ED1
|
[NCBI]
|
1.45257e-06
|
|
|
ND
|
[NCBI]
|
8.52021e-07
|
|
|
neuraminidase deficiency
|
[NCBI]
|
8.52021e-07
|
|
|
BBS
|
[NCBI]
|
6.76867e-07
|
|
|
POMC
|
[NCBI]
|
5.86535e-07
|
|
|
PWS
|
[NCBI]
|
5.4692e-07
|
|
|
NPY
|
[NCBI]
|
4.88768e-07
|
|
|
mucolipidosis ii
|
[NCBI]
|
3.49225e-07
|
|
|
VIP
|
[NCBI]
|
1.61092e-07
|
|
|
CMT1A
|
[NCBI]
|
1.15296e-07
|
|
|
EV
|
[NCBI]
|
7.75551e-08
|
|
|
ACH
|
[NCBI]
|
1.71989e-08
|
|
|
EIG
|
[NCBI]
|
9.85113e-09
|
|
|
MAS
|
[NCBI]
|
2.92983e-10
|
|