|
OMIM |
Link |
Information gain |
01 |
|
coffin-siris syndrome
|
[NCBI]
|
0.00484183
|
|
|
camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases
|
[NCBI]
|
0.0045243
|
|
|
camptodactyly
|
[NCBI]
|
0.00376782
|
|
|
EEC1
|
[NCBI]
|
0.00360459
|
|
|
hypertension with brachydactyly
|
[NCBI]
|
0.00353073
|
|
|
cleidocranial dysplasia with micrognathia, absent thumbs, and distal aphalangia
|
[NCBI]
|
0.00260408
|
|
|
FRNS
|
[NCBI]
|
0.00257968
|
|
|
gordon syndrome
|
[NCBI]
|
0.00245891
|
|
|
acroosteolysis with osteoporosis and changes in skull and mandible
|
[NCBI]
|
0.00241225
|
|
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
0.00241225
|
|
|
ZLS
|
[NCBI]
|
0.00241225
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.00233
|
|
|
MKS1
|
[NCBI]
|
0.00206724
|
|
|
OFD4
|
[NCBI]
|
0.00196358
|
|
|
AOS
|
[NCBI]
|
0.00193196
|
|
|
varadi-papp syndrome
|
[NCBI]
|
0.00188756
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.00185779
|
|
|
short rib-polydactyly syndrome, type iii
|
[NCBI]
|
0.00179989
|
|
|
POADS
|
[NCBI]
|
0.00166477
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.0015518
|
|
|
tibia, hypoplasia of, with polydactyly
|
[NCBI]
|
0.00154985
|
|
|
osteoarthropathy of fingers, familial
|
[NCBI]
|
0.00151873
|
|
|
BDA3
|
[NCBI]
|
0.00150422
|
|
|
fingerprints, absence of
|
[NCBI]
|
0.00150422
|
|
|
femur, unilateral bifid, with monodactylous ectrodactyly
|
[NCBI]
|
0.00134857
|
|
|
proteus syndrome
|
[NCBI]
|
0.00130783
|
|
|
symphalangism, distal
|
[NCBI]
|
0.0010838
|
|
|
faciodigitogenital syndrome, recessive
|
[NCBI]
|
0.0010838
|
|
|
OFD5
|
[NCBI]
|
0.0010838
|
|
|
SYM1
|
[NCBI]
|
0.00106537
|
|
|
BDC
|
[NCBI]
|
0.000944931
|
|
|
CF
|
[NCBI]
|
0.000929779
|
|
|
ATD1
|
[NCBI]
|
0.0008999
|
|
|
cenani syndactylism
|
[NCBI]
|
0.000898149
|
|
|
dermal ridges, patternless
|
[NCBI]
|
0.000898149
|
|
|
catel-manzke syndrome
|
[NCBI]
|
0.000825387
|
|
|
polydactyly, postaxial, type a1
|
[NCBI]
|
0.000825387
|
|
|
syndactyly, type i, with microcephaly and mental retardation
|
[NCBI]
|
0.000773196
|
|
|
MKKS
|
[NCBI]
|
0.000753158
|
|
|
myopathy, distal, with onset in infancy
|
[NCBI]
|
0.00075163
|
|
|
FTSD
|
[NCBI]
|
0.00075163
|
|
|
singleton-merten syndrome
|
[NCBI]
|
0.00075163
|
|
|
MCS
|
[NCBI]
|
0.00075163
|
|
|
MSSD
|
[NCBI]
|
0.00075163
|
|
|
midphalangeal hair
|
[NCBI]
|
0.00075163
|
|
|
broad terminal phalanges, familial
|
[NCBI]
|
0.00075163
|
|
|
camptobrachydactyly
|
[NCBI]
|
0.00075163
|
|
|
vertebral hypoplasia with lumbar kyphosis
|
[NCBI]
|
0.00075163
|
|
|
dystelephalangy
|
[NCBI]
|
0.00075163
|
|
|
LGMD1G
|
[NCBI]
|
0.00075163
|
|
|
BDA4
|
[NCBI]
|
0.00075163
|
|
|
polysyndactyly, crossed
|
[NCBI]
|
0.00075163
|
|
|
anisomastia
|
[NCBI]
|
0.00075163
|
|
|
brachydactyly, type a5, with nail dysplasia
|
[NCBI]
|
0.00075163
|
|
|
brachydactyly, combined b and e types
|
[NCBI]
|
0.00075163
|
|
|
CACP
|
[NCBI]
|
0.000749159
|
|
|
BDB1
|
[NCBI]
|
0.000738286
|
|
|
RA
|
[NCBI]
|
0.000733177
|
|
|
short rib-polydactyly syndrome, type i
|
[NCBI]
|
0.000679303
|
|
|
SHFM1
|
[NCBI]
|
0.000653194
|
|
|
TRPS1
|
[NCBI]
|
0.00062406
|
|
|
ODDD
|
[NCBI]
|
0.000612553
|
|
|
ACLS
|
[NCBI]
|
0.000601637
|
|
|
kabuki syndrome
|
[NCBI]
|
0.00059971
|
|
|
SPD1
|
[NCBI]
|
0.000546326
|
|
|
laurin-sandrow syndrome
|
[NCBI]
|
0.00054277
|
|
|
trismus-pseudocamptodactyly syndrome
|
[NCBI]
|
0.000532007
|
|
|
constricting bands, congenital
|
[NCBI]
|
0.000490461
|
|
|
TRPS2
|
[NCBI]
|
0.000482848
|
|
|
BDA1
|
[NCBI]
|
0.000476067
|
|
|
PHS
|
[NCBI]
|
0.000455331
|
|
|
polydactyly, preaxial iv
|
[NCBI]
|
0.00044936
|
|
|
GCS1
|
[NCBI]
|
0.00044936
|
|
|
leri pleonosteosis
|
[NCBI]
|
0.000448628
|
|
|
synostosis, carpal, with dysplastic elbow joints and brachydactyly
|
[NCBI]
|
0.000448628
|
|
|
OFD8
|
[NCBI]
|
0.000448628
|
|
|
anonychia-onychodystrophy with hypoplasia or absence of distal phalanges
|
[NCBI]
|
0.000448628
|
|
|
polydactyly, preaxial iii
|
[NCBI]
|
0.000448628
|
|
|
brachydactyly, type a1, b
|
[NCBI]
|
0.000448628
|
|
|
dermal ridges-off-the-end
|
[NCBI]
|
0.000448628
|
|
|
triphalangeal thumb, nonopposable
|
[NCBI]
|
0.000448628
|
|
|
clubbing of digits
|
[NCBI]
|
0.000448628
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
0.000437078
|
|
|
OFD1
|
[NCBI]
|
0.000428617
|
|
|
BDE
|
[NCBI]
|
0.000412332
|
|
|
SHFLD1
|
[NCBI]
|
0.000405851
|
|
|
CTS1
|
[NCBI]
|
0.000405851
|
|
|
OPD2
|
[NCBI]
|
0.000394154
|
|
|
brachymorphism-onychodysplasia-dysphalangism syndrome
|
[NCBI]
|
0.000389888
|
|
|
polydactyly, postaxial
|
[NCBI]
|
0.000389888
|
|
|
brachydactyly, preaxial, with hallux varus and thumb abduction
|
[NCBI]
|
0.000389888
|
|
|
pachydermodactyly, familial
|
[NCBI]
|
0.000389888
|
|
|
scalp defects and postaxial polydactyly
|
[NCBI]
|
0.000389888
|
|
|
LMS
|
[NCBI]
|
0.000346232
|
|
|
MF4
|
[NCBI]
|
0.000339238
|
|
|
axenfeld-rieger anomaly with cardiac defects and sensorineural hearing loss
|
[NCBI]
|
0.000339238
|
|
|
spondylometaphyseal dysplasia, sedaghatian type
|
[NCBI]
|
0.000339238
|
|
|
syndactyly, type i
|
[NCBI]
|
0.000339238
|
|
|
triphalangeal thumbs with brachyectrodactyly
|
[NCBI]
|
0.000339238
|
|
|
microphthalmia with limb anomalies
|
[NCBI]
|
0.000339238
|
|
|
terminal osseous dysplasia and pigmentary defects
|
[NCBI]
|
0.000339238
|
|
|
UMS
|
[NCBI]
|
0.000335758
|
|
|
JBTS1
|
[NCBI]
|
0.000335356
|
|
|
SLE
|
[NCBI]
|
0.000329579
|
|
|
digitorenocerebral syndrome
|
[NCBI]
|
0.000326448
|
|
|
BDA2
|
[NCBI]
|
0.000326448
|
|
|
GCPS
|
[NCBI]
|
0.000319878
|
|
|
LADD
|
[NCBI]
|
0.000317693
|
|
|
SYNS1
|
[NCBI]
|
0.000317693
|
|
|
AD
|
[NCBI]
|
0.000317327
|
|
|
EVC
|
[NCBI]
|
0.000295508
|
|
|
weyers ulnar ray/oligodactyly syndrome
|
[NCBI]
|
0.000295126
|
|
|
weaver syndrome
|
[NCBI]
|
0.000285538
|
|
|
faciogenital dysplasia
|
[NCBI]
|
0.000279295
|
|
|
feingold syndrome
|
[NCBI]
|
0.000276677
|
|
|
fibular aplasia or hypoplasia, femoral bowing and poly-, syn-, and oligodactyly
|
[NCBI]
|
0.000272924
|
|
|
VDEGS
|
[NCBI]
|
0.000271003
|
|
|
brachydactyly-mental retardation syndrome
|
[NCBI]
|
0.000271003
|
|
|
adducted thumb-clubfoot syndrome
|
[NCBI]
|
0.000271003
|
|
|
oculodentoosseous dysplasia, recessive
|
[NCBI]
|
0.000271003
|
|
|
poland syndrome
|
[NCBI]
|
0.000269007
|
|
|
polydactyly
|
[NCBI]
|
0.000259871
|
|
|
dandy-walker malformation with postaxial polydactyly
|
[NCBI]
|
0.000259871
|
|
|
carney complex variant
|
[NCBI]
|
0.000259871
|
|
|
pierre robin syndrome and oligodactyly
|
[NCBI]
|
0.000259871
|
|
|
brachydactyly-ectrodactyly with fibular aplasia or hypoplasia
|
[NCBI]
|
0.000259871
|
|
|
camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
|
[NCBI]
|
0.000259871
|
|
|
tonoki syndrome
|
[NCBI]
|
0.000259871
|
|
|
megalodactyly
|
[NCBI]
|
0.000259871
|
|
|
teebi-shaltout syndrome
|
[NCBI]
|
0.000259871
|
|
|
cerebrofacioarticular syndrome
|
[NCBI]
|
0.000259871
|
|
|
HOXD13
|
[NCBI]
|
0.000258333
|
|
|
pierre robin sequence with pectus excavatum and rib and scapular anomalies
|
[NCBI]
|
0.000222315
|
|
|
OFD9
|
[NCBI]
|
0.000222315
|
|
|
molar i reinclusion
|
[NCBI]
|
0.000222315
|
|
|
hemifacial microsomia with radial defects
|
[NCBI]
|
0.000222315
|
|
|
ROR2
|
[NCBI]
|
0.000209839
|
|
|
preaxial deficiency, postaxial polydactyly, and hypospadias
|
[NCBI]
|
0.000206059
|
|
|
scleroderma, familial progressive
|
[NCBI]
|
0.000205387
|
|
|
PPD2
|
[NCBI]
|
0.000186975
|
|
|
OSCS
|
[NCBI]
|
0.00018514
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
0.00018514
|
|
|
weyers acrofacial dysostosis
|
[NCBI]
|
0.000181896
|
|
|
weill-marchesani syndrome, autosomal dominant
|
[NCBI]
|
0.000181896
|
|
|
fibular aplasia, tibial campomelia, and oligosyndactyly syndrome
|
[NCBI]
|
0.000181896
|
|
|
synovitis, granulomatous, with uveitis and cranial neuropathies
|
[NCBI]
|
0.0001654
|
|
|
polydactyly, preaxial i
|
[NCBI]
|
0.0001654
|
|
|
anonychia congenita
|
[NCBI]
|
0.0001654
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
0.0001654
|
|
|
TRPS3
|
[NCBI]
|
0.0001654
|
|
|
AFD1
|
[NCBI]
|
0.000159721
|
|
|
hairy elbows
|
[NCBI]
|
0.000155574
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
0.000155574
|
|
|
stiff skin syndrome
|
[NCBI]
|
0.000155574
|
|
|
ruvalcaba syndrome
|
[NCBI]
|
0.000152826
|
|
|
keutel syndrome
|
[NCBI]
|
0.000152826
|
|
|
adult syndrome
|
[NCBI]
|
0.000152826
|
|
|
aglossia-adactylia
|
[NCBI]
|
0.000152826
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
0.000151081
|
|
|
chondrodysplasia, grebe type
|
[NCBI]
|
0.000142666
|
|
|
CLS
|
[NCBI]
|
0.000138328
|
|
|
OKS
|
[NCBI]
|
0.000136353
|
|
|
GDF5
|
[NCBI]
|
0.000135948
|
|
|
MYH8
|
[NCBI]
|
0.00013248
|
|
|
DA2A
|
[NCBI]
|
0.00012998
|
|
|
mesomelic limb shortening and bowing
|
[NCBI]
|
0.000129909
|
|
|
brachydactyly, long-thumb type
|
[NCBI]
|
0.000129909
|
|
|
anonychia-onychodystrophy
|
[NCBI]
|
0.000129909
|
|
|
lethal short-limb skeletal dysplasia, al gazali type
|
[NCBI]
|
0.000129909
|
|
|
keratosis palmaris et plantaris with clinodactyly
|
[NCBI]
|
0.000129909
|
|
|
pulmonary nodular lymphoid hyperplasia, familial
|
[NCBI]
|
0.000129909
|
|
|
aplasia of extensor muscles of fingers, unilateral, with generalized polyneuropathy
|
[NCBI]
|
0.000129909
|
|
|
dauwerse-peters syndrome
|
[NCBI]
|
0.000129909
|
|
|
camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia
|
[NCBI]
|
0.000129909
|
|
|
midline malformations, multiple, with limb abnormalities and hypopituitarism
|
[NCBI]
|
0.000129909
|
|
|
syndactyly, type v
|
[NCBI]
|
0.000129909
|
|
|
microspherophakia with hernia
|
[NCBI]
|
0.000129909
|
|
|
acroosteolysis
|
[NCBI]
|
0.000129909
|
|
|
camptodactyly-ichthyosis syndrome
|
[NCBI]
|
0.000129909
|
|
|
patent ductus arteriosus and bicuspid aortic valve with hand anomalies
|
[NCBI]
|
0.000129909
|
|
|
anonychia-ectrodactyly
|
[NCBI]
|
0.000129909
|
|
|
SSOS
|
[NCBI]
|
0.000129909
|
|
|
camptodactyly syndrome, guadalajara type ii
|
[NCBI]
|
0.000129909
|
|
|
crumpled helices and small mouth
|
[NCBI]
|
0.000129909
|
|
|
brachydactyly, mononen type
|
[NCBI]
|
0.000129909
|
|
|
finger locking, recurrent, with intrauterine growth retardation and proportionate short stature
|
[NCBI]
|
0.000129909
|
|
|
ulnar agenesis and endocardial fibroelastosis
|
[NCBI]
|
0.000129909
|
|
|
pierre robin sequence with facial and digital anomalies
|
[NCBI]
|
0.000129909
|
|
|
cyanide, inability to smell
|
[NCBI]
|
0.000129909
|
|
|
ectrodactyly-polydactyly
|
[NCBI]
|
0.000129909
|
|
|
acrorenal syndrome
|
[NCBI]
|
0.000129909
|
|
|
corneodermatoosseous syndrome
|
[NCBI]
|
0.000129909
|
|
|
microcephaly with digital anomalies
|
[NCBI]
|
0.000129909
|
|
|
albinism-microcephaly-digital anomalies syndrome
|
[NCBI]
|
0.000129909
|
|
|
cardiac malformation, cleft lip-palate, microcephaly and digital anomalies
|
[NCBI]
|
0.000129909
|
|
|
harrod syndrome
|
[NCBI]
|
0.000129909
|
|
|
arthrogryposis, distal, with peculiar facies and hydronephrosis
|
[NCBI]
|
0.000129909
|
|
|
ASPED
|
[NCBI]
|
0.000129909
|
|
|
heart-hand syndrome, spanish type
|
[NCBI]
|
0.000129909
|
|
|
limb defects, distal transverse, with mental retardation and spasticity
|
[NCBI]
|
0.000129909
|
|
|
lymphedema-hypoparathyroidism syndrome
|
[NCBI]
|
0.000129909
|
|
|
anonychia-onychodystrophy with brachydactyly type b and ectrodactyly
|
[NCBI]
|
0.000129909
|
|
|
spondylocamptodactyly
|
[NCBI]
|
0.000129909
|
|
|
brachydactyly-distal symphalangism syndrome
|
[NCBI]
|
0.000129909
|
|
|
nakajo syndrome
|
[NCBI]
|
0.000129909
|
|
|
epilepsy-telangiectasia
|
[NCBI]
|
0.000129909
|
|
|
polydactyly, postaxial, with progressive myopia
|
[NCBI]
|
0.000129909
|
|
|
eem syndrome
|
[NCBI]
|
0.000129909
|
|
|
cerebral malformation, seizures, hypertrichosis, and overlapping fingers
|
[NCBI]
|
0.000129909
|
|
|
hypomelia with mullerian duct anomalies
|
[NCBI]
|
0.000129909
|
|
|
acanthosis nigricans with muscle cramps and acral enlargement
|
[NCBI]
|
0.000129909
|
|
|
craniosynostosis, philadelphia type
|
[NCBI]
|
0.000129909
|
|
|
aphalangy with hemivertebrae
|
[NCBI]
|
0.000129909
|
|
|
ulnar/fibular ray defect and brachydactyly
|
[NCBI]
|
0.000129909
|
|
|
oral and digital anomalies with ichthyosis
|
[NCBI]
|
0.000129909
|
|
|
cerebrorenodigital syndrome with limb malformations and triradiate acetabula
|
[NCBI]
|
0.000129909
|
|
|
spondyloepimetaphyseal dysplasia, micromelic
|
[NCBI]
|
0.000129909
|
|
|
cryptomicrotia-brachydactyly syndrome
|
[NCBI]
|
0.000129909
|
|
|
brachymetapody-anodontia-hypotrichosis-albinoidism
|
[NCBI]
|
0.000129909
|
|
|
brachytelephalangy with characteristic facies and kallmann syndrome
|
[NCBI]
|
0.000129909
|
|
|
pycnodysostosis
|
[NCBI]
|
0.000126828
|
|
|
hydrolethalus syndrome 1
|
[NCBI]
|
0.000120412
|
|
|
EPPK
|
[NCBI]
|
0.00011471
|
|
|
OPD1
|
[NCBI]
|
0.00011471
|
|
|
PDP
|
[NCBI]
|
0.00011471
|
|
|
HTC1
|
[NCBI]
|
0.0001113
|
|
|
MG
|
[NCBI]
|
0.00010649
|
|
|
NOG
|
[NCBI]
|
0.000100002
|
|
|
mohr syndrome
|
[NCBI]
|
9.43235e-05
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
9.43235e-05
|
|
|
DBQD
|
[NCBI]
|
9.43235e-05
|
|
|
SRS
|
[NCBI]
|
9.37697e-05
|
|
|
CDPX1
|
[NCBI]
|
9.313e-05
|
|
|
BDB2
|
[NCBI]
|
9.09217e-05
|
|
|
arterial occlusive disease, progressive, with hypertension, heart defects, bone fragility, and brachysyndactyly
|
[NCBI]
|
9.09217e-05
|
|
|
craniosynostosis-mental retardation syndrome of lin and gettig
|
[NCBI]
|
9.09217e-05
|
|
|
external auditory canal, bilateral atresia of, with congenital vertical talus
|
[NCBI]
|
9.09217e-05
|
|
|
hyaluronidase deficiency
|
[NCBI]
|
9.09217e-05
|
|
|
acrocephalopolydactylous dysplasia
|
[NCBI]
|
9.09217e-05
|
|
|
retinopathy, pigmentary, and mental retardation
|
[NCBI]
|
9.09217e-05
|
|
|
plantar lipomatosis, unusual facies, and developmental delay
|
[NCBI]
|
9.09217e-05
|
|
|
second metatarsal-metacarpal syndrome
|
[NCBI]
|
9.09217e-05
|
|
|
crisponi syndrome
|
[NCBI]
|
9.09217e-05
|
|
|
holoprosencephaly, ectrodactyly, and bilateral cleft lip/palate
|
[NCBI]
|
9.09217e-05
|
|
|
hyaluronan metabolism, defect in
|
[NCBI]
|
9.09217e-05
|
|
|
phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia
|
[NCBI]
|
9.09217e-05
|
|
|
trigonocephaly with short stature and developmental delay
|
[NCBI]
|
9.09217e-05
|
|
|
radial aplasia, x-linked
|
[NCBI]
|
9.09217e-05
|
|
|
dk phocomelia syndrome
|
[NCBI]
|
9.09217e-05
|
|
|
scott craniodigital syndrome with mental retardation
|
[NCBI]
|
9.09217e-05
|
|
|
devriendt syndrome
|
[NCBI]
|
9.09217e-05
|
|
|
humeroradial synostosis
|
[NCBI]
|
9.09217e-05
|
|
|
tetramelic monodactyly
|
[NCBI]
|
9.09217e-05
|
|
|
PC1
|
[NCBI]
|
9.09217e-05
|
|
|
HMS
|
[NCBI]
|
9.09217e-05
|
|
|
nasodigitoacoustic syndrome
|
[NCBI]
|
9.09217e-05
|
|
|
curved nail of fourth toe
|
[NCBI]
|
9.09217e-05
|
|
|
chondrodysplasia punctata syndrome
|
[NCBI]
|
9.09217e-05
|
|
|
fingers, relative length of
|
[NCBI]
|
9.09217e-05
|
|
|
stratton-parker syndrome
|
[NCBI]
|
9.09217e-05
|
|
|
otofaciocervical syndrome
|
[NCBI]
|
9.09217e-05
|
|
|
dermal ridges, nelson syndrome
|
[NCBI]
|
9.09217e-05
|
|
|
puerto rican infant hypotonia syndrome
|
[NCBI]
|
9.09217e-05
|
|
|
uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly
|
[NCBI]
|
9.09217e-05
|
|
|
BBS
|
[NCBI]
|
9.07983e-05
|
|
|
HOS
|
[NCBI]
|
8.3438e-05
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
8.1037e-05
|
|
|
marden-walker syndrome
|
[NCBI]
|
7.98551e-05
|
|
|
ARSE
|
[NCBI]
|
7.68702e-05
|
|
|
HOXA13
|
[NCBI]
|
7.68702e-05
|
|
|
microcephaly, corpus callosum dysgenesis, and cleft lip/palate
|
[NCBI]
|
7.6387e-05
|
|
|
neurofaciodigitorenal syndrome
|
[NCBI]
|
7.6387e-05
|
|
|
fibular hypoplasia and complex brachydactyly
|
[NCBI]
|
7.6387e-05
|
|
|
ectrodactyly
|
[NCBI]
|
7.6387e-05
|
|
|
carbimazole sensitivity
|
[NCBI]
|
7.6387e-05
|
|
|
BDD
|
[NCBI]
|
7.6387e-05
|
|
|
camptodactyly, tall stature, and hearing loss syndrome
|
[NCBI]
|
7.6387e-05
|
|
|
gombo syndrome
|
[NCBI]
|
7.6387e-05
|
|
|
carpenter syndrome
|
[NCBI]
|
7.6387e-05
|
|
|
fibrosclerosis, multifocal
|
[NCBI]
|
7.6387e-05
|
|
|
CFNS
|
[NCBI]
|
7.12031e-05
|
|
|
fraser syndrome
|
[NCBI]
|
7.12031e-05
|
|
|
BGS
|
[NCBI]
|
6.90799e-05
|
|
|
stapes ankylosis with broad thumb and toes
|
[NCBI]
|
6.70499e-05
|
|
|
oroacral syndrome, verloes-koulischer type
|
[NCBI]
|
6.70499e-05
|
|
|
brachyphalangy, polydactyly, and tibial aplasia/hypoplasia
|
[NCBI]
|
6.70499e-05
|
|
|
coloboma of macula with type b brachydactyly
|
[NCBI]
|
6.70499e-05
|
|
|
syndactyly, type iii
|
[NCBI]
|
6.70499e-05
|
|
|
knuckle pads, leukonychia, and sensorineural deafness
|
[NCBI]
|
6.70499e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
6.4415e-05
|
|
|
HFM
|
[NCBI]
|
6.37117e-05
|
|
|
GLI3
|
[NCBI]
|
6.04784e-05
|
|
|
young-simpson syndrome
|
[NCBI]
|
6.01813e-05
|
|
|
indifference to pain, congenital, autosomal recessive
|
[NCBI]
|
6.01813e-05
|
|
|
PBC
|
[NCBI]
|
6.01813e-05
|
|
|
hunter-mcalpine craniosynostosis syndrome
|
[NCBI]
|
6.01813e-05
|
|
|
holzgreve syndrome
|
[NCBI]
|
6.01813e-05
|
|
|
char syndrome
|
[NCBI]
|
6.01813e-05
|
|
|
muenke syndrome
|
[NCBI]
|
6.01813e-05
|
|
|
renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia
|
[NCBI]
|
6.01813e-05
|
|
|
pneumothorax, primary spontaneous
|
[NCBI]
|
6.01813e-05
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
6.01813e-05
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
6.01813e-05
|
|
|
spondyloperipheral dysplasia
|
[NCBI]
|
6.01813e-05
|
|
|
MLRD
|
[NCBI]
|
6.01813e-05
|
|
|
DPR
|
[NCBI]
|
6.01813e-05
|
|
|
SLOS
|
[NCBI]
|
5.86472e-05
|
|
|
IHH
|
[NCBI]
|
5.75651e-05
|
|
|
RP
|
[NCBI]
|
5.64522e-05
|
|
|
mental retardation, x-linked, with short stature
|
[NCBI]
|
5.55501e-05
|
|
|
EVC
|
[NCBI]
|
5.55501e-05
|
|
|
MBOAT1
|
[NCBI]
|
5.55501e-05
|
|
|
floating-harbor syndrome
|
[NCBI]
|
5.47667e-05
|
|
|
cherubism
|
[NCBI]
|
5.47667e-05
|
|
|
DSAP1
|
[NCBI]
|
5.47667e-05
|
|
|
vitamin k-dependent clotting factors, combined deficiency of, 1
|
[NCBI]
|
5.47667e-05
|
|
|
heart block, congenital
|
[NCBI]
|
5.47667e-05
|
|
|
SCDO1
|
[NCBI]
|
5.36357e-05
|
|
|
sotos syndrome
|
[NCBI]
|
5.08803e-05
|
|
|
kawasaki disease
|
[NCBI]
|
5.03128e-05
|
|
|
kindler syndrome
|
[NCBI]
|
5.03128e-05
|
|
|
cleft larynx, posterior
|
[NCBI]
|
5.03128e-05
|
|
|
short syndrome
|
[NCBI]
|
5.03128e-05
|
|
|
radioulnar synostosis
|
[NCBI]
|
5.03128e-05
|
|
|
tetralogy of fallot
|
[NCBI]
|
4.65417e-05
|
|
|
RSTS
|
[NCBI]
|
4.59066e-05
|
|
|
GJA1
|
[NCBI]
|
4.37015e-05
|
|
|
frontonasal dysplasia
|
[NCBI]
|
4.32812e-05
|
|
|
EEC3
|
[NCBI]
|
4.32812e-05
|
|
|
weill-marchesani syndrome, autosomal recessive
|
[NCBI]
|
4.32812e-05
|
|
|
mucolipidosis iii, complementation group c
|
[NCBI]
|
4.32812e-05
|
|
|
GNPTG
|
[NCBI]
|
4.18046e-05
|
|
|
MKS1
|
[NCBI]
|
4.18046e-05
|
|
|
GRA
|
[NCBI]
|
4.04169e-05
|
|
|
dubowitz syndrome
|
[NCBI]
|
3.94288e-05
|
|
|
HYAL1
|
[NCBI]
|
3.93606e-05
|
|
|
CRMP1
|
[NCBI]
|
3.93606e-05
|
|
|
nail dysplasia, isolated congenital
|
[NCBI]
|
3.93606e-05
|
|
|
RSPO4
|
[NCBI]
|
3.93606e-05
|
|
|
MUC1
|
[NCBI]
|
3.88235e-05
|
|
|
NS1
|
[NCBI]
|
3.85802e-05
|
|
|
acheiropody
|
[NCBI]
|
3.78692e-05
|
|
|
hand-foot-uterus syndrome
|
[NCBI]
|
3.78692e-05
|
|
|
SOST
|
[NCBI]
|
3.78692e-05
|
|
|
ITPKC
|
[NCBI]
|
3.75442e-05
|
|
|
ARL6
|
[NCBI]
|
3.75442e-05
|
|
|
GLI2
|
[NCBI]
|
3.60973e-05
|
|
|
BMPR1B
|
[NCBI]
|
3.60973e-05
|
|
|
CXORF5
|
[NCBI]
|
3.48946e-05
|
|
|
FANCE
|
[NCBI]
|
3.48946e-05
|
|
|
TFAP2B
|
[NCBI]
|
3.38654e-05
|
|
|
CRLF1
|
[NCBI]
|
3.38654e-05
|
|
|
chromosome 18q deletion syndrome
|
[NCBI]
|
3.35069e-05
|
|
|
AHO
|
[NCBI]
|
3.33718e-05
|
|
|
TFAP2C
|
[NCBI]
|
3.2966e-05
|
|
|
NLS
|
[NCBI]
|
3.24711e-05
|
|
|
LMBR1
|
[NCBI]
|
3.21674e-05
|
|
|
COFS1
|
[NCBI]
|
3.16156e-05
|
|
|
DRRS
|
[NCBI]
|
3.16156e-05
|
|
|
GLI
|
[NCBI]
|
3.14492e-05
|
|
|
TFAP2A
|
[NCBI]
|
3.07968e-05
|
|
|
TBX3
|
[NCBI]
|
3.01992e-05
|
|
|
bethlem myopathy
|
[NCBI]
|
2.98805e-05
|
|
|
apert syndrome
|
[NCBI]
|
2.98805e-05
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
2.98805e-05
|
|
|
CTSD
|
[NCBI]
|
2.96479e-05
|
|
|
ALD
|
[NCBI]
|
2.94585e-05
|
|
|
SMOH
|
[NCBI]
|
2.91362e-05
|
|
|
PTCH1
|
[NCBI]
|
2.86589e-05
|
|
|
PD
|
[NCBI]
|
2.86395e-05
|
|
|
TBX5
|
[NCBI]
|
2.82117e-05
|
|
|
EPHX1
|
[NCBI]
|
2.7394e-05
|
|
|
LRS1
|
[NCBI]
|
2.6799e-05
|
|
|
SLSN1
|
[NCBI]
|
2.6799e-05
|
|
|
KRT14
|
[NCBI]
|
2.59968e-05
|
|
|
MN
|
[NCBI]
|
2.53898e-05
|
|
|
CDLS1
|
[NCBI]
|
2.44966e-05
|
|
|
COL6A1
|
[NCBI]
|
2.40682e-05
|
|
|
PRG4
|
[NCBI]
|
2.33803e-05
|
|
|
MADA
|
[NCBI]
|
2.29358e-05
|
|
|
PHA
|
[NCBI]
|
2.29358e-05
|
|
|
MNS
|
[NCBI]
|
2.29358e-05
|
|
|
HCH
|
[NCBI]
|
2.29358e-05
|
|
|
EFE
|
[NCBI]
|
2.29358e-05
|
|
|
PPS
|
[NCBI]
|
2.1809e-05
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
2.1809e-05
|
|
|
FLNA
|
[NCBI]
|
2.04045e-05
|
|
|
GNAS
|
[NCBI]
|
1.98577e-05
|
|
|
COL2A1
|
[NCBI]
|
1.98577e-05
|
|
|
PFM
|
[NCBI]
|
1.97518e-05
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
1.97518e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
1.97518e-05
|
|
|
IDUA
|
[NCBI]
|
1.97275e-05
|
|
|
CMD1A
|
[NCBI]
|
1.88099e-05
|
|
|
charge syndrome
|
[NCBI]
|
1.79195e-05
|
|
|
fabry disease
|
[NCBI]
|
1.75044e-05
|
|
|
RBS
|
[NCBI]
|
1.70763e-05
|
|
|
COH1
|
[NCBI]
|
1.70763e-05
|
|
|
INSR
|
[NCBI]
|
1.56059e-05
|
|
|
FGFR2
|
[NCBI]
|
1.55364e-05
|
|
|
PTH
|
[NCBI]
|
1.54959e-05
|
|
|
BCNS
|
[NCBI]
|
1.54776e-05
|
|
|
FDH
|
[NCBI]
|
1.47958e-05
|
|
|
SJS1
|
[NCBI]
|
1.47958e-05
|
|
|
TNFRSF11B
|
[NCBI]
|
1.4481e-05
|
|
|
breast cancer
|
[NCBI]
|
1.41091e-05
|
|
|
DBI
|
[NCBI]
|
1.36824e-05
|
|
|
PKS
|
[NCBI]
|
1.34549e-05
|
|
|
CDPX2
|
[NCBI]
|
1.34549e-05
|
|
|
FGFR3
|
[NCBI]
|
1.2587e-05
|
|
|
TBS
|
[NCBI]
|
1.22362e-05
|
|
|
SHH
|
[NCBI]
|
1.16092e-05
|
|
|
TNF
|
[NCBI]
|
1.13726e-05
|
|
|
FOP
|
[NCBI]
|
1.1125e-05
|
|
|
SCS
|
[NCBI]
|
1.06058e-05
|
|
|
BRRS
|
[NCBI]
|
1.01092e-05
|
|
|
porphyria variegata
|
[NCBI]
|
1.01092e-05
|
|
|
hypertension, essential
|
[NCBI]
|
7.53988e-06
|
|
|
HD
|
[NCBI]
|
6.69887e-06
|
|
|
ED1
|
[NCBI]
|
6.15338e-06
|
|
|
ALGS1
|
[NCBI]
|
5.84104e-06
|
|
|
AVSD
|
[NCBI]
|
4.97743e-06
|
|
|
HHT
|
[NCBI]
|
4.97743e-06
|
|
|
SDS
|
[NCBI]
|
4.97743e-06
|
|
|
LNS
|
[NCBI]
|
4.97743e-06
|
|
|
TD1
|
[NCBI]
|
4.71241e-06
|
|
|
VEGF
|
[NCBI]
|
3.04166e-06
|
|
|
CES
|
[NCBI]
|
2.94588e-06
|
|
|
NPY
|
[NCBI]
|
2.01601e-06
|
|
|
ACH
|
[NCBI]
|
1.69663e-06
|
|
|
MFS
|
[NCBI]
|
1.49182e-06
|
|
|
ACHE
|
[NCBI]
|
8.9091e-07
|
|
|
AFP
|
[NCBI]
|
7.50946e-07
|
|
|
GFAP
|
[NCBI]
|
7.47164e-07
|
|
|
AVP
|
[NCBI]
|
4.79128e-07
|
|
|
VIP
|
[NCBI]
|
4.54649e-07
|
|
|
CFTR
|
[NCBI]
|
4.39253e-07
|
|
|
EGFR
|
[NCBI]
|
2.47649e-07
|
|
|
WHS
|
[NCBI]
|
1.92973e-07
|
|
|
CEACAM5
|
[NCBI]
|
9.93699e-08
|
|
|
CPI
|
[NCBI]
|
2.36522e-08
|
|
|
MBP
|
[NCBI]
|
7.55611e-09
|
|
|
EPO
|
[NCBI]
|
4.84405e-09
|
|