|
OMIM |
Link |
Information gain |
01 |
|
microcephalic osteodysplastic primordial dwarfism, type ii
|
[NCBI]
|
0.00732438
|
|
|
microcephalic osteodysplastic primordial dwarfism, type i
|
[NCBI]
|
0.00732056
|
|
|
SRS
|
[NCBI]
|
0.00668362
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.00538063
|
|
|
dyssegmental dysplasia, rolland-desbuquois type
|
[NCBI]
|
0.00486983
|
|
|
microcephalic osteodysplastic primordial dwarfism, type iii
|
[NCBI]
|
0.00364752
|
|
|
kenny-caffey syndrome, type 2
|
[NCBI]
|
0.00313766
|
|
|
ACG1A
|
[NCBI]
|
0.00265488
|
|
|
CSA
|
[NCBI]
|
0.00250776
|
|
|
metatropic dwarfism
|
[NCBI]
|
0.00238573
|
|
|
DBQD
|
[NCBI]
|
0.00235941
|
|
|
pygmy
|
[NCBI]
|
0.00183463
|
|
|
dubowitz syndrome
|
[NCBI]
|
0.0015846
|
|
|
short rib-polydactyly syndrome, type ii
|
[NCBI]
|
0.00151141
|
|
|
omodysplasia, generalized form
|
[NCBI]
|
0.00147295
|
|
|
mulibrey nanism
|
[NCBI]
|
0.00124655
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
0.00117657
|
|
|
short rib-polydactyly syndrome, type i
|
[NCBI]
|
0.00108187
|
|
|
gapo syndrome
|
[NCBI]
|
0.00100467
|
|
|
TD1
|
[NCBI]
|
0.000967131
|
|
|
SLE
|
[NCBI]
|
0.000956787
|
|
|
spondyloepimetaphyseal dysplasia, sponastrime type
|
[NCBI]
|
0.000939431
|
|
|
SEMDIT
|
[NCBI]
|
0.000915754
|
|
|
geleophysic dysplasia
|
[NCBI]
|
0.000883011
|
|
|
SEMDJL
|
[NCBI]
|
0.000833381
|
|
|
kyphomelic dysplasia
|
[NCBI]
|
0.000833381
|
|
|
costovertebral segmentation anomalies
|
[NCBI]
|
0.000783405
|
|
|
omodysplasia
|
[NCBI]
|
0.000783405
|
|
|
nievergelt syndrome
|
[NCBI]
|
0.000783405
|
|
|
BLM
|
[NCBI]
|
0.000783058
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
0.000765499
|
|
|
CHH
|
[NCBI]
|
0.000734859
|
|
|
campomelic dysplasia
|
[NCBI]
|
0.000670237
|
|
|
PSACH
|
[NCBI]
|
0.00066414
|
|
|
seckel syndrome 1
|
[NCBI]
|
0.000641883
|
|
|
three m syndrome
|
[NCBI]
|
0.00062759
|
|
|
cutis laxa, corneal clouding, and mental retardation
|
[NCBI]
|
0.000625558
|
|
|
fibrochondrogenesis
|
[NCBI]
|
0.000625558
|
|
|
trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina
|
[NCBI]
|
0.000625558
|
|
|
spondyloepiphyseal dysplasia tarda, toledo type
|
[NCBI]
|
0.000625558
|
|
|
aphalangia, partial, with syndactyly and duplication of metatarsal iv
|
[NCBI]
|
0.000605923
|
|
|
mesomelic dwarfism of hypoplastic tibia and radius type
|
[NCBI]
|
0.000605923
|
|
|
BDA4
|
[NCBI]
|
0.000605923
|
|
|
dwarfism, familial, with muscle spasms
|
[NCBI]
|
0.000605923
|
|
|
microcephalic osteodysplastic primordial dwarfism with tooth abnormalities
|
[NCBI]
|
0.000605923
|
|
|
tryptophanuria with dwarfism
|
[NCBI]
|
0.000605923
|
|
|
short stature, mental retardation, callosal agenesis, heminasal hypoplasia, microphthalmia, and atypical clefting
|
[NCBI]
|
0.000605923
|
|
|
polycystic kidney disease, potter type i, with microbrachycephaly, hypertelorism, and brachymelia
|
[NCBI]
|
0.000605923
|
|
|
GHR
|
[NCBI]
|
0.000556904
|
|
|
costello syndrome
|
[NCBI]
|
0.000426107
|
|
|
short rib-polydactyly syndrome, type iii
|
[NCBI]
|
0.000422729
|
|
|
camptomelic syndrome, long-limb type
|
[NCBI]
|
0.000420401
|
|
|
diastrophic dysplasia
|
[NCBI]
|
0.000414497
|
|
|
acromesomelic dysplasia, hunter-thompson type
|
[NCBI]
|
0.000411985
|
|
|
donohue syndrome
|
[NCBI]
|
0.00040876
|
|
|
metaphyseal acroscyphodysplasia
|
[NCBI]
|
0.000391323
|
|
|
dysosteosclerosis
|
[NCBI]
|
0.000391323
|
|
|
acromicric dysplasia
|
[NCBI]
|
0.000391323
|
|
|
oculopalatocerebral syndrome
|
[NCBI]
|
0.000391323
|
|
|
AMDM
|
[NCBI]
|
0.000382168
|
|
|
spondyloenchondrodysplasia
|
[NCBI]
|
0.00037193
|
|
|
kabuki syndrome
|
[NCBI]
|
0.000352519
|
|
|
DMC
|
[NCBI]
|
0.000326651
|
|
|
pycnodysostosis
|
[NCBI]
|
0.000319932
|
|
|
megalencephaly
|
[NCBI]
|
0.000312416
|
|
|
CND
|
[NCBI]
|
0.000312416
|
|
|
mesomelic dysplasia, kantaputra type
|
[NCBI]
|
0.000312416
|
|
|
SPG9
|
[NCBI]
|
0.000312416
|
|
|
chondrodysplasia, grebe type
|
[NCBI]
|
0.00030849
|
|
|
ATD1
|
[NCBI]
|
0.000306585
|
|
|
SJS1
|
[NCBI]
|
0.000274294
|
|
|
langer mesomelic dysplasia
|
[NCBI]
|
0.000273299
|
|
|
LWD
|
[NCBI]
|
0.00027174
|
|
|
leri pleonosteosis
|
[NCBI]
|
0.000262352
|
|
|
bullous dystrophy, hereditary macular type
|
[NCBI]
|
0.000262352
|
|
|
spondylometaphyseal dysplasia, kozlowski type
|
[NCBI]
|
0.000262352
|
|
|
PRL
|
[NCBI]
|
0.000241027
|
|
|
OGD
|
[NCBI]
|
0.000236484
|
|
|
EVC
|
[NCBI]
|
0.000236133
|
|
|
FGFR3
|
[NCBI]
|
0.00022836
|
|
|
microcephaly with chorioretinopathy, autosomal recessive
|
[NCBI]
|
0.000225987
|
|
|
kbg syndrome
|
[NCBI]
|
0.000225987
|
|
|
JBS
|
[NCBI]
|
0.000223024
|
|
|
PAPSS2
|
[NCBI]
|
0.000212382
|
|
|
COMP
|
[NCBI]
|
0.000208623
|
|
|
ACH
|
[NCBI]
|
0.000205624
|
|
|
ACG2
|
[NCBI]
|
0.000201385
|
|
|
RMRP
|
[NCBI]
|
0.000200627
|
|
|
pierre robin sequence with pectus excavatum and rib and scapular anomalies
|
[NCBI]
|
0.000197691
|
|
|
CTPP1
|
[NCBI]
|
0.000197691
|
|
|
GBY
|
[NCBI]
|
0.000197691
|
|
|
kniest dysplasia
|
[NCBI]
|
0.000196241
|
|
|
SHOX
|
[NCBI]
|
0.000189178
|
|
|
PLSDT
|
[NCBI]
|
0.000184998
|
|
|
TRIM37
|
[NCBI]
|
0.00017816
|
|
|
pseudodiastrophic dysplasia
|
[NCBI]
|
0.000175014
|
|
|
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
|
[NCBI]
|
0.000175014
|
|
|
achondroplasia, so-called, and severe combined immunodeficiency
|
[NCBI]
|
0.000175014
|
|
|
schneckenbecken dysplasia
|
[NCBI]
|
0.000175014
|
|
|
PROP1
|
[NCBI]
|
0.00016816
|
|
|
dwarfism, levi type
|
[NCBI]
|
0.000168063
|
|
|
dwarfism with stiff joints and ocular abnormalities
|
[NCBI]
|
0.000168063
|
|
|
AOIII
|
[NCBI]
|
0.000168063
|
|
|
GHRH
|
[NCBI]
|
0.000161828
|
|
|
GDF5
|
[NCBI]
|
0.00015514
|
|
|
BOCD
|
[NCBI]
|
0.000153754
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
0.000153754
|
|
|
weill-marchesani syndrome, autosomal recessive
|
[NCBI]
|
0.000153754
|
|
|
EVC2
|
[NCBI]
|
0.000153035
|
|
|
faciogenital dysplasia
|
[NCBI]
|
0.000145459
|
|
|
WZS
|
[NCBI]
|
0.00013921
|
|
|
hypertension with brachydactyly
|
[NCBI]
|
0.00013921
|
|
|
acrodysostosis
|
[NCBI]
|
0.00013921
|
|
|
GEMSS
|
[NCBI]
|
0.000137199
|
|
|
spondylometaepiphyseal dysplasia, short limb-hand type
|
[NCBI]
|
0.000137199
|
|
|
spondylometaphyseal dysplasia with dentinogenesis imperfecta
|
[NCBI]
|
0.000137199
|
|
|
anauxetic dysplasia
|
[NCBI]
|
0.000137199
|
|
|
SEDC
|
[NCBI]
|
0.000133792
|
|
|
GHRHR
|
[NCBI]
|
0.000133535
|
|
|
pituitary dwarfism iii
|
[NCBI]
|
0.000128158
|
|
|
spondyloepimetaphyseal dysplasia with multiple dislocations
|
[NCBI]
|
0.000125067
|
|
|
ear, patella, short stature syndrome
|
[NCBI]
|
0.000125067
|
|
|
gurrieri syndrome
|
[NCBI]
|
0.0001233
|
|
|
PTHR1
|
[NCBI]
|
0.000112214
|
|
|
weyers acrofacial dysostosis
|
[NCBI]
|
0.000106517
|
|
|
microcephaly, autosomal dominant
|
[NCBI]
|
0.000101733
|
|
|
ruvalcaba syndrome
|
[NCBI]
|
0.00010063
|
|
|
spondylocarpotarsal synostosis syndrome
|
[NCBI]
|
0.00010063
|
|
|
EVC
|
[NCBI]
|
0.0001002
|
|
|
NPR2
|
[NCBI]
|
0.0001002
|
|
|
TD2
|
[NCBI]
|
9.56826e-05
|
|
|
AGC1
|
[NCBI]
|
9.20441e-05
|
|
|
metaphyseal chondrodysplasia, jansen type
|
[NCBI]
|
9.14182e-05
|
|
|
winchester syndrome
|
[NCBI]
|
9.14182e-05
|
|
|
XPB
|
[NCBI]
|
9.14182e-05
|
|
|
OCRL
|
[NCBI]
|
9.0472e-05
|
|
|
HCH
|
[NCBI]
|
8.9088e-05
|
|
|
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
[NCBI]
|
8.76727e-05
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
8.76727e-05
|
|
|
thoracomelic dysplasia
|
[NCBI]
|
8.40154e-05
|
|
|
microspherophakia-metaphyseal dysplasia
|
[NCBI]
|
8.40154e-05
|
|
|
diabetes insipidus, nephrogenic, with mental retardation and intracerebral calcification
|
[NCBI]
|
8.40154e-05
|
|
|
lethal short-limb skeletal dysplasia, al gazali type
|
[NCBI]
|
8.40154e-05
|
|
|
metatropic dysplasia, nonlethal dominant
|
[NCBI]
|
8.40154e-05
|
|
|
bird-headed dwarfism, montreal type
|
[NCBI]
|
8.40154e-05
|
|
|
dyggve-melchior-clausen syndrome, x-linked
|
[NCBI]
|
8.40154e-05
|
|
|
megaepiphyseal dwarfism
|
[NCBI]
|
8.40154e-05
|
|
|
synovial chondromatosis, familial, with dwarfism
|
[NCBI]
|
8.40154e-05
|
|
|
spondyloepimetaphyseal dysplasia, matrilin-3 related
|
[NCBI]
|
8.40154e-05
|
|
|
colchicine resistance
|
[NCBI]
|
8.40154e-05
|
|
|
atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease
|
[NCBI]
|
8.40154e-05
|
|
|
pituitary dwarfism with small sella turcica
|
[NCBI]
|
8.40154e-05
|
|
|
chondrodysplasia calcificans metaphysealis
|
[NCBI]
|
8.40154e-05
|
|
|
hyperzincemia with functional zinc depletion
|
[NCBI]
|
8.40154e-05
|
|
|
keratosis follicularis, dwarfism, and cerebral atrophy
|
[NCBI]
|
8.40154e-05
|
|
|
syndesmodysplasic dwarfism
|
[NCBI]
|
8.40154e-05
|
|
|
dwarfism with tall vertebrae
|
[NCBI]
|
8.40154e-05
|
|
|
craniosynostosis
|
[NCBI]
|
8.40154e-05
|
|
|
cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation
|
[NCBI]
|
8.40154e-05
|
|
|
spondyloepimetaphyseal dysplasia, micromelic
|
[NCBI]
|
8.40154e-05
|
|
|
ichthyosis, mental retardation, dwarfism, and renal impairment
|
[NCBI]
|
8.40154e-05
|
|
|
bird-headed dwarfism with progressive ataxia, insulin-resistant diabetes, goiter, and primary gonadal insufficiency
|
[NCBI]
|
8.40154e-05
|
|
|
short stature, pituitary and cerebellar defects, and small sella turcica
|
[NCBI]
|
8.40154e-05
|
|
|
metaphyseal dysplasia with maxillary hypoplasia and brachydactyly
|
[NCBI]
|
8.40154e-05
|
|
|
dyssegmental dysplasia with glaucoma
|
[NCBI]
|
8.40154e-05
|
|
|
ISS
|
[NCBI]
|
8.13264e-05
|
|
|
SDS
|
[NCBI]
|
7.81417e-05
|
|
|
ROR2
|
[NCBI]
|
7.38562e-05
|
|
|
OPD1
|
[NCBI]
|
7.37634e-05
|
|
|
pituitary dwarfism i
|
[NCBI]
|
7.37634e-05
|
|
|
POU1F1
|
[NCBI]
|
7.13883e-05
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
6.77327e-05
|
|
|
TPST2
|
[NCBI]
|
6.67791e-05
|
|
|
SMPD2
|
[NCBI]
|
6.67791e-05
|
|
|
PRKG2
|
[NCBI]
|
6.67791e-05
|
|
|
ADAMTS10
|
[NCBI]
|
6.67791e-05
|
|
|
FLII
|
[NCBI]
|
6.67791e-05
|
|
|
CDPX1
|
[NCBI]
|
6.59685e-05
|
|
|
MCDS
|
[NCBI]
|
6.59685e-05
|
|
|
TTDP
|
[NCBI]
|
6.43049e-05
|
|
|
schinzel-giedion midface-retraction syndrome
|
[NCBI]
|
6.17727e-05
|
|
|
coxoauricular syndrome
|
[NCBI]
|
6.16339e-05
|
|
|
spondyloepimetaphyseal dysplasia, x-linked
|
[NCBI]
|
6.16339e-05
|
|
|
pelviscapular dysplasia
|
[NCBI]
|
6.16339e-05
|
|
|
cockayne syndrome, type iii
|
[NCBI]
|
6.16339e-05
|
|
|
tonoki syndrome
|
[NCBI]
|
6.16339e-05
|
|
|
intrauterine growth retardation with increased mitomycin c sensitivity
|
[NCBI]
|
6.16339e-05
|
|
|
microcephalic primordial dwarfism, toriello type
|
[NCBI]
|
6.16339e-05
|
|
|
brachyrachia
|
[NCBI]
|
6.16339e-05
|
|
|
micromelic dysplasia, congenital, with dislocation of radius
|
[NCBI]
|
6.16339e-05
|
|
|
spondyloepimetaphyseal dysplasia, shohat type
|
[NCBI]
|
6.16339e-05
|
|
|
S PEAK SYNDROME
|
[NCBI]
|
6.16339e-05
|
|
|
metaphyseal dysplasia without hypotrichosis
|
[NCBI]
|
6.16339e-05
|
|
|
metaphyseal chondrodysplasia, pena type
|
[NCBI]
|
6.16339e-05
|
|
|
HSS
|
[NCBI]
|
5.84698e-05
|
|
|
marden-walker syndrome
|
[NCBI]
|
5.5885e-05
|
|
|
brachymorphism-onychodysplasia-dysphalangism syndrome
|
[NCBI]
|
5.32429e-05
|
|
|
pituitary dwarfism iv
|
[NCBI]
|
5.32429e-05
|
|
|
fibular hypoplasia and complex brachydactyly
|
[NCBI]
|
5.32429e-05
|
|
|
rhizomelic syndrome
|
[NCBI]
|
5.32429e-05
|
|
|
craniofacial dyssynostosis with short stature
|
[NCBI]
|
5.32429e-05
|
|
|
alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus
|
[NCBI]
|
5.32429e-05
|
|
|
rhizomelic dysplasia, patterson-lowry type
|
[NCBI]
|
5.32429e-05
|
|
|
rapadilino syndrome
|
[NCBI]
|
5.32429e-05
|
|
|
macrocephaly
|
[NCBI]
|
5.32429e-05
|
|
|
NPPC
|
[NCBI]
|
5.30104e-05
|
|
|
COPG2
|
[NCBI]
|
5.30104e-05
|
|
|
CRMP1
|
[NCBI]
|
5.30104e-05
|
|
|
LHX4
|
[NCBI]
|
5.30104e-05
|
|
|
DMBX1
|
[NCBI]
|
5.30104e-05
|
|
|
CRTL1
|
[NCBI]
|
5.30104e-05
|
|
|
SLOS
|
[NCBI]
|
5.27386e-05
|
|
|
SCDO1
|
[NCBI]
|
4.8577e-05
|
|
|
GH1
|
[NCBI]
|
4.84881e-05
|
|
|
acrogeria, gottron type
|
[NCBI]
|
4.78257e-05
|
|
|
insulin-like growth factor i deficiency
|
[NCBI]
|
4.78257e-05
|
|
|
charge-like syndrome, x-linked
|
[NCBI]
|
4.78257e-05
|
|
|
robin sequence with cleft mandible and limb anomalies
|
[NCBI]
|
4.78257e-05
|
|
|
DDSH
|
[NCBI]
|
4.78257e-05
|
|
|
coloboma of macula with type b brachydactyly
|
[NCBI]
|
4.78257e-05
|
|
|
aminopterin syndrome sine aminopterin
|
[NCBI]
|
4.78257e-05
|
|
|
eem syndrome
|
[NCBI]
|
4.78257e-05
|
|
|
ectopia lentis
|
[NCBI]
|
4.78257e-05
|
|
|
weill-marchesani syndrome, autosomal dominant
|
[NCBI]
|
4.78257e-05
|
|
|
ACG1B
|
[NCBI]
|
4.78257e-05
|
|
|
SMPD3
|
[NCBI]
|
4.78209e-05
|
|
|
CUL7
|
[NCBI]
|
4.78209e-05
|
|
|
ADAMTS1
|
[NCBI]
|
4.78209e-05
|
|
|
PFIC1
|
[NCBI]
|
4.67929e-05
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
4.59438e-05
|
|
|
RCDP1
|
[NCBI]
|
4.51212e-05
|
|
|
SHOX2
|
[NCBI]
|
4.44551e-05
|
|
|
IHH
|
[NCBI]
|
4.3872e-05
|
|
|
cutis gyrata syndrome of beare and stevenson
|
[NCBI]
|
4.38209e-05
|
|
|
insulin-like growth factor i, resistance to
|
[NCBI]
|
4.38209e-05
|
|
|
GCS1
|
[NCBI]
|
4.38209e-05
|
|
|
malpuech facial clefting syndrome
|
[NCBI]
|
4.38209e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
4.35499e-05
|
|
|
COL2A1
|
[NCBI]
|
4.23084e-05
|
|
|
HDAC4
|
[NCBI]
|
4.19553e-05
|
|
|
IGFALS
|
[NCBI]
|
4.15745e-05
|
|
|
TRPS2
|
[NCBI]
|
4.06684e-05
|
|
|
SMC
|
[NCBI]
|
4.0648e-05
|
|
|
pelvis-shoulder dysplasia
|
[NCBI]
|
4.0648e-05
|
|
|
cystinosis, adult nonnephropathic
|
[NCBI]
|
4.0648e-05
|
|
|
gracile bone dysplasia
|
[NCBI]
|
4.0648e-05
|
|
|
TRPS3
|
[NCBI]
|
4.0648e-05
|
|
|
SCN1B
|
[NCBI]
|
3.99657e-05
|
|
|
XPA
|
[NCBI]
|
3.93419e-05
|
|
|
GRB10
|
[NCBI]
|
3.83132e-05
|
|
|
IL6ST
|
[NCBI]
|
3.83132e-05
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
3.80247e-05
|
|
|
TH
|
[NCBI]
|
3.70393e-05
|
|
|
MATN3
|
[NCBI]
|
3.69002e-05
|
|
|
ARSE
|
[NCBI]
|
3.69002e-05
|
|
|
ALDOA
|
[NCBI]
|
3.69002e-05
|
|
|
PCSK1
|
[NCBI]
|
3.69002e-05
|
|
|
INSR
|
[NCBI]
|
3.6228e-05
|
|
|
BDE
|
[NCBI]
|
3.57921e-05
|
|
|
boomerang dysplasia
|
[NCBI]
|
3.57921e-05
|
|
|
AKT2
|
[NCBI]
|
3.56663e-05
|
|
|
MMP14
|
[NCBI]
|
3.45715e-05
|
|
|
AOII
|
[NCBI]
|
3.38516e-05
|
|
|
osseous heteroplasia, progressive
|
[NCBI]
|
3.38516e-05
|
|
|
martsolf syndrome
|
[NCBI]
|
3.38516e-05
|
|
|
OD
|
[NCBI]
|
3.32003e-05
|
|
|
RTS
|
[NCBI]
|
3.31075e-05
|
|
|
ATP8B1
|
[NCBI]
|
3.26948e-05
|
|
|
floating-harbor syndrome
|
[NCBI]
|
3.21379e-05
|
|
|
sarcosinemia
|
[NCBI]
|
3.21379e-05
|
|
|
de sanctis-cacchione syndrome
|
[NCBI]
|
3.06053e-05
|
|
|
OSMED
|
[NCBI]
|
3.06053e-05
|
|
|
growth hormone insensitivity with immunodeficiency
|
[NCBI]
|
3.06053e-05
|
|
|
KCS
|
[NCBI]
|
3.06053e-05
|
|
|
HHRH
|
[NCBI]
|
3.06053e-05
|
|
|
ERCC3
|
[NCBI]
|
3.04254e-05
|
|
|
BGN
|
[NCBI]
|
2.97742e-05
|
|
|
AOI
|
[NCBI]
|
2.92207e-05
|
|
|
PQBP1
|
[NCBI]
|
2.91645e-05
|
|
|
IGF1R
|
[NCBI]
|
2.91645e-05
|
|
|
THRA
|
[NCBI]
|
2.85914e-05
|
|
|
HOMG
|
[NCBI]
|
2.79594e-05
|
|
|
RENS1
|
[NCBI]
|
2.79594e-05
|
|
|
SEDT
|
[NCBI]
|
2.79594e-05
|
|
|
PTS
|
[NCBI]
|
2.70541e-05
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
2.68024e-05
|
|
|
HMGA2
|
[NCBI]
|
2.65926e-05
|
|
|
ATR
|
[NCBI]
|
2.65926e-05
|
|
|
TBP
|
[NCBI]
|
2.61526e-05
|
|
|
EGF
|
[NCBI]
|
2.57325e-05
|
|
|
CDG2C
|
[NCBI]
|
2.47443e-05
|
|
|
pitt syndrome
|
[NCBI]
|
2.47443e-05
|
|
|
XPD
|
[NCBI]
|
2.47443e-05
|
|
|
cutis laxa, autosomal recessive, type ii
|
[NCBI]
|
2.47443e-05
|
|
|
ERCC2
|
[NCBI]
|
2.45737e-05
|
|
|
INSL3
|
[NCBI]
|
2.45737e-05
|
|
|
XPC
|
[NCBI]
|
2.45737e-05
|
|
|
AKT1
|
[NCBI]
|
2.45737e-05
|
|
|
ERCC5
|
[NCBI]
|
2.45737e-05
|
|
|
PWS
|
[NCBI]
|
2.43536e-05
|
|
|
RP
|
[NCBI]
|
2.42855e-05
|
|
|
PARP1
|
[NCBI]
|
2.38744e-05
|
|
|
OPD2
|
[NCBI]
|
2.38216e-05
|
|
|
chiari malformation type i
|
[NCBI]
|
2.3625e-05
|
|
|
EDM1
|
[NCBI]
|
2.29587e-05
|
|
|
sacral defect with anterior meningocele
|
[NCBI]
|
2.29587e-05
|
|
|
fucosidosis
|
[NCBI]
|
2.29154e-05
|
|
|
IGF1
|
[NCBI]
|
2.26167e-05
|
|
|
omenn syndrome
|
[NCBI]
|
2.21488e-05
|
|
|
immunoosseous dysplasia, schimke type
|
[NCBI]
|
2.21488e-05
|
|
|
SLC2A2
|
[NCBI]
|
2.15107e-05
|
|
|
FBS
|
[NCBI]
|
2.13864e-05
|
|
|
PHA2
|
[NCBI]
|
2.13864e-05
|
|
|
BFLS
|
[NCBI]
|
2.13864e-05
|
|
|
diarrhea 1, secretory chloride, congenital
|
[NCBI]
|
2.13864e-05
|
|
|
OA1
|
[NCBI]
|
2.10044e-05
|
|
|
coffin-siris syndrome
|
[NCBI]
|
2.0946e-05
|
|
|
cutis laxa, autosomal recessive, type i
|
[NCBI]
|
2.06667e-05
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
2.00697e-05
|
|
|
SCA17
|
[NCBI]
|
1.99856e-05
|
|
|
MNS
|
[NCBI]
|
1.93397e-05
|
|
|
PPAC
|
[NCBI]
|
1.93397e-05
|
|
|
THRB
|
[NCBI]
|
1.9024e-05
|
|
|
crigler-najjar syndrome
|
[NCBI]
|
1.81414e-05
|
|
|
AHO
|
[NCBI]
|
1.80555e-05
|
|
|
WBS
|
[NCBI]
|
1.76978e-05
|
|
|
MRXHF1
|
[NCBI]
|
1.7584e-05
|
|
|
AEZ
|
[NCBI]
|
1.7584e-05
|
|
|
ALMS
|
[NCBI]
|
1.70515e-05
|
|
|
refsum disease, infantile form
|
[NCBI]
|
1.70515e-05
|
|
|
STAT1
|
[NCBI]
|
1.64758e-05
|
|
|
andersen cardiodysrhythmic periodic paralysis
|
[NCBI]
|
1.60542e-05
|
|
|
NPHP1
|
[NCBI]
|
1.55863e-05
|
|
|
leopard syndrome 1
|
[NCBI]
|
1.51371e-05
|
|
|
COL1A2
|
[NCBI]
|
1.4402e-05
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
1.42897e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
1.38896e-05
|
|
|
FGFR1
|
[NCBI]
|
1.36369e-05
|
|
|
RBS
|
[NCBI]
|
1.24257e-05
|
|
|
charge syndrome
|
[NCBI]
|
1.24257e-05
|
|
|
ILK
|
[NCBI]
|
1.21236e-05
|
|
|
STL1
|
[NCBI]
|
1.20903e-05
|
|
|
BTHS
|
[NCBI]
|
1.05668e-05
|
|
|
PCNA
|
[NCBI]
|
1.04403e-05
|
|
|
HDC
|
[NCBI]
|
1.02349e-05
|
|
|
hypophosphatemic rickets, x-linked dominant
|
[NCBI]
|
8.78624e-06
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
8.339e-06
|
|
|
neuraminidase deficiency
|
[NCBI]
|
8.339e-06
|
|
|
mucolipidosis ii
|
[NCBI]
|
7.71177e-06
|
|
|
BPES
|
[NCBI]
|
7.71177e-06
|
|
|
EPO
|
[NCBI]
|
7.37494e-06
|
|
|
MKS1
|
[NCBI]
|
6.94842e-06
|
|
|
CLS
|
[NCBI]
|
6.09643e-06
|
|
|
PTH
|
[NCBI]
|
5.15513e-06
|
|
|
FA
|
[NCBI]
|
4.51779e-06
|
|
|
SLS
|
[NCBI]
|
3.9638e-06
|
|
|
AS
|
[NCBI]
|
3.8662e-06
|
|
|
TPO
|
[NCBI]
|
3.83086e-06
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
3.5426e-06
|
|
|
SHFM1
|
[NCBI]
|
3.44301e-06
|
|
|
SLC6A3
|
[NCBI]
|
3.32403e-06
|
|
|
POMC
|
[NCBI]
|
3.24881e-06
|
|
|
MEN2A
|
[NCBI]
|
3.15778e-06
|
|
|
CTGF
|
[NCBI]
|
2.74654e-06
|
|
|
NS1
|
[NCBI]
|
2.40896e-06
|
|
|
SMS
|
[NCBI]
|
1.86062e-06
|
|
|
TG
|
[NCBI]
|
1.79148e-06
|
|
|
DWS
|
[NCBI]
|
1.46533e-06
|
|
|
CDLS1
|
[NCBI]
|
1.25672e-06
|
|
|
ZS
|
[NCBI]
|
1.11837e-06
|
|
|
PTHLH
|
[NCBI]
|
1.02725e-06
|
|
|
CAT
|
[NCBI]
|
6.17951e-07
|
|
|
MODY
|
[NCBI]
|
3.26604e-07
|
|
|
NPY
|
[NCBI]
|
3.05483e-08
|
|
|
ADA
|
[NCBI]
|
1.18094e-09
|
|