|
OMIM |
Link |
Information gain |
01 |
|
RIEG2
|
[NCBI]
|
0.00301464
|
|
|
AIC
|
[NCBI]
|
0.0023119
|
|
|
axenfeld-rieger anomaly with cardiac defects and sensorineural hearing loss
|
[NCBI]
|
0.00225789
|
|
|
oculodentoosseous dysplasia, recessive
|
[NCBI]
|
0.00190552
|
|
|
walker-warburg syndrome
|
[NCBI]
|
0.00174087
|
|
|
ODDD
|
[NCBI]
|
0.00161798
|
|
|
cryptophthalmos, unilateral or bilateral, isolated
|
[NCBI]
|
0.00150321
|
|
|
HFM
|
[NCBI]
|
0.00127599
|
|
|
kaufman oculocerebrofacial syndrome
|
[NCBI]
|
0.00120429
|
|
|
branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging
|
[NCBI]
|
0.00112842
|
|
|
persistent hyperplastic primary vitreous, autosomal recessive
|
[NCBI]
|
0.00106991
|
|
|
cavitary optic disc anomalies
|
[NCBI]
|
0.00106991
|
|
|
MEB
|
[NCBI]
|
0.00103932
|
|
|
fraser syndrome
|
[NCBI]
|
0.0010083
|
|
|
JBTS2
|
[NCBI]
|
0.000907992
|
|
|
microphthalmia with limb anomalies
|
[NCBI]
|
0.000851316
|
|
|
PAX6
|
[NCBI]
|
0.000759854
|
|
|
foveal hypoplasia and anterior segment dysgenesis
|
[NCBI]
|
0.000750595
|
|
|
coloboma of macula
|
[NCBI]
|
0.000750595
|
|
|
holoprosencephaly
|
[NCBI]
|
0.000702636
|
|
|
MCOPS1
|
[NCBI]
|
0.00069498
|
|
|
RIEG1
|
[NCBI]
|
0.000614549
|
|
|
lymphedema, microcephaly, chorioretinopathy syndrome
|
[NCBI]
|
0.000573737
|
|
|
AN2
|
[NCBI]
|
0.00057181
|
|
|
CES
|
[NCBI]
|
0.000567974
|
|
|
FOXC1
|
[NCBI]
|
0.000563942
|
|
|
proteus syndrome
|
[NCBI]
|
0.000560698
|
|
|
marden-walker syndrome
|
[NCBI]
|
0.000536948
|
|
|
knobloch syndrome, type ii
|
[NCBI]
|
0.00053396
|
|
|
burn-mckeown syndrome
|
[NCBI]
|
0.00053396
|
|
|
persistent hyperplastic primary vitreous, autosomal dominant
|
[NCBI]
|
0.00053396
|
|
|
PRS
|
[NCBI]
|
0.00053396
|
|
|
ocular hypotelorism, submucosal cleft palate, and hypospadias
|
[NCBI]
|
0.00053396
|
|
|
cerebrooculonasal syndrome
|
[NCBI]
|
0.00053396
|
|
|
oculootofacial dysplasia
|
[NCBI]
|
0.00053396
|
|
|
oculopalatocerebral syndrome
|
[NCBI]
|
0.00053396
|
|
|
frontofacionasal dysostosis
|
[NCBI]
|
0.000453018
|
|
|
OFD3
|
[NCBI]
|
0.000453018
|
|
|
oculocerebrocutaneous syndrome
|
[NCBI]
|
0.000410519
|
|
|
CNA1
|
[NCBI]
|
0.000400918
|
|
|
ectopia lentis with ectopia of pupil
|
[NCBI]
|
0.000400918
|
|
|
telangiectasia, hereditary benign
|
[NCBI]
|
0.000400918
|
|
|
POMT1
|
[NCBI]
|
0.000390894
|
|
|
COFS1
|
[NCBI]
|
0.000374003
|
|
|
MCDU
|
[NCBI]
|
0.000362518
|
|
|
distichiasis
|
[NCBI]
|
0.000362518
|
|
|
hemifacial microsomia with radial defects
|
[NCBI]
|
0.000362518
|
|
|
pierson syndrome
|
[NCBI]
|
0.000341977
|
|
|
NNO1
|
[NCBI]
|
0.000332185
|
|
|
IRID1
|
[NCBI]
|
0.000331538
|
|
|
nevi flammei, familial multiple
|
[NCBI]
|
0.000307184
|
|
|
MCOPS2
|
[NCBI]
|
0.000306663
|
|
|
peters anomaly
|
[NCBI]
|
0.000301346
|
|
|
arima syndrome
|
[NCBI]
|
0.000285973
|
|
|
blepharocheilodontic syndrome
|
[NCBI]
|
0.000285973
|
|
|
oculocerebral syndrome with hypopigmentation
|
[NCBI]
|
0.000285973
|
|
|
foveal hypoplasia and presenile cataract syndrome
|
[NCBI]
|
0.000285822
|
|
|
phace association
|
[NCBI]
|
0.000273484
|
|
|
PITX2
|
[NCBI]
|
0.000271824
|
|
|
ALGS1
|
[NCBI]
|
0.000270847
|
|
|
peters-plus syndrome
|
[NCBI]
|
0.00026321
|
|
|
MCOP1
|
[NCBI]
|
0.000251415
|
|
|
megalocornea-mental retardation syndrome
|
[NCBI]
|
0.000236993
|
|
|
jejunal atresia with microcephaly and ocular anomalies
|
[NCBI]
|
0.000217848
|
|
|
skin creases, multiple benign ring-shaped, of limbs
|
[NCBI]
|
0.000212216
|
|
|
DRRS
|
[NCBI]
|
0.000209408
|
|
|
COH1
|
[NCBI]
|
0.000205751
|
|
|
megacystis-microcolon-intestinal hypoperistalsis syndrome
|
[NCBI]
|
0.000201436
|
|
|
schimmelpenning-feuerstein-mims syndrome
|
[NCBI]
|
0.000201436
|
|
|
GJA1
|
[NCBI]
|
0.000192346
|
|
|
short syndrome
|
[NCBI]
|
0.000186783
|
|
|
BPES
|
[NCBI]
|
0.000183939
|
|
|
FCMD
|
[NCBI]
|
0.000182497
|
|
|
glaucoma-related pigment dispersion syndrome
|
[NCBI]
|
0.000182361
|
|
|
WS1
|
[NCBI]
|
0.00017699
|
|
|
coloboma, ocular
|
[NCBI]
|
0.000173672
|
|
|
ASMD
|
[NCBI]
|
0.000173672
|
|
|
KNO
|
[NCBI]
|
0.000173672
|
|
|
weill-marchesani syndrome, autosomal recessive
|
[NCBI]
|
0.000173672
|
|
|
IRID2
|
[NCBI]
|
0.000163427
|
|
|
dandy-walker-like malformation with atrioventricular septal defect
|
[NCBI]
|
0.000151566
|
|
|
codas syndrome
|
[NCBI]
|
0.000150575
|
|
|
POMGNT1
|
[NCBI]
|
0.000148433
|
|
|
OPPG
|
[NCBI]
|
0.000144696
|
|
|
mulibrey nanism
|
[NCBI]
|
0.000141707
|
|
|
COL18A1
|
[NCBI]
|
0.00013833
|
|
|
FOXF2
|
[NCBI]
|
0.000136813
|
|
|
weill-marchesani syndrome, autosomal dominant
|
[NCBI]
|
0.000136645
|
|
|
axenfeld-rieger anomaly with partially absent eye muscles, distinctive face, hydrocephaly, and skeletal abnormalities
|
[NCBI]
|
0.000136645
|
|
|
SALL4
|
[NCBI]
|
0.000128696
|
|
|
HSS
|
[NCBI]
|
0.000126951
|
|
|
LRP5
|
[NCBI]
|
0.000119887
|
|
|
aplasia cutis congenita with epibulbar dermoids
|
[NCBI]
|
0.0001198
|
|
|
syndactyly, type iii
|
[NCBI]
|
0.0001198
|
|
|
OTX2
|
[NCBI]
|
0.000117841
|
|
|
PAX2
|
[NCBI]
|
0.00011699
|
|
|
JBTS1
|
[NCBI]
|
0.000112631
|
|
|
BCOR
|
[NCBI]
|
0.000109272
|
|
|
WARBM
|
[NCBI]
|
0.000108904
|
|
|
charge syndrome
|
[NCBI]
|
0.000104239
|
|
|
NDP
|
[NCBI]
|
0.000103003
|
|
|
MAF
|
[NCBI]
|
9.88889e-05
|
|
|
LAMB2
|
[NCBI]
|
9.52329e-05
|
|
|
TFAP2A
|
[NCBI]
|
9.52329e-05
|
|
|
LDS
|
[NCBI]
|
9.16556e-05
|
|
|
gms syndrome
|
[NCBI]
|
9.07104e-05
|
|
|
momo syndrome
|
[NCBI]
|
9.07104e-05
|
|
|
microspherophakia-metaphyseal dysplasia
|
[NCBI]
|
9.07104e-05
|
|
|
oculomaxillofacial dysplasia with oblique facial clefts
|
[NCBI]
|
9.07104e-05
|
|
|
multiple congenital anomalies syndrome with cloverleaf skull
|
[NCBI]
|
9.07104e-05
|
|
|
ectopia pupillae
|
[NCBI]
|
9.07104e-05
|
|
|
iridogoniodysgenesis and skeletal anomalies
|
[NCBI]
|
9.07104e-05
|
|
|
mental retardation, obesity, mandibular prognathism, and eye and skin anomalies
|
[NCBI]
|
9.07104e-05
|
|
|
sclerocornea, autosomal dominant
|
[NCBI]
|
9.07104e-05
|
|
|
eccrine syringofibroadenomatosis with eyelid abnormalities
|
[NCBI]
|
9.07104e-05
|
|
|
mesangial sclerosis, diffuse renal, with ocular abnormalities
|
[NCBI]
|
9.07104e-05
|
|
|
sclerocornea
|
[NCBI]
|
9.07104e-05
|
|
|
congenital corneal opacities, cornea guttata, and corectopia
|
[NCBI]
|
9.07104e-05
|
|
|
IHG
|
[NCBI]
|
9.07104e-05
|
|
|
COFS4
|
[NCBI]
|
9.07104e-05
|
|
|
chondrodysplasia-pseudohermaphroditism syndrome
|
[NCBI]
|
9.07104e-05
|
|
|
coloboma of macula and skeletal anomalies
|
[NCBI]
|
9.07104e-05
|
|
|
brachymetapody-anodontia-hypotrichosis-albinoidism
|
[NCBI]
|
9.07104e-05
|
|
|
SHH
|
[NCBI]
|
8.83458e-05
|
|
|
marshall syndrome
|
[NCBI]
|
8.45876e-05
|
|
|
MKS1
|
[NCBI]
|
8.26081e-05
|
|
|
MCOPS3
|
[NCBI]
|
8.25524e-05
|
|
|
EEC1
|
[NCBI]
|
8.17846e-05
|
|
|
papillorenal syndrome
|
[NCBI]
|
8.06445e-05
|
|
|
COL11A1
|
[NCBI]
|
7.98586e-05
|
|
|
IP
|
[NCBI]
|
7.80594e-05
|
|
|
SOX2
|
[NCBI]
|
7.7029e-05
|
|
|
FOXC2
|
[NCBI]
|
7.34301e-05
|
|
|
DNM1L
|
[NCBI]
|
6.83731e-05
|
|
|
DNAJC7
|
[NCBI]
|
6.83731e-05
|
|
|
ww domain-containing protein, 45-kd
|
[NCBI]
|
6.83731e-05
|
|
|
OTX1
|
[NCBI]
|
6.83731e-05
|
|
|
BARX2
|
[NCBI]
|
6.83731e-05
|
|
|
GMDS
|
[NCBI]
|
6.83731e-05
|
|
|
ADAMTS10
|
[NCBI]
|
6.83731e-05
|
|
|
B3GALTL
|
[NCBI]
|
6.83731e-05
|
|
|
factor viii-associated gene 2
|
[NCBI]
|
6.83731e-05
|
|
|
BARX1
|
[NCBI]
|
6.83731e-05
|
|
|
craniosynostosis-mental retardation syndrome of lin and gettig
|
[NCBI]
|
6.8298e-05
|
|
|
CC
|
[NCBI]
|
6.8298e-05
|
|
|
aniridia, partial, with unilateral renal agenesis and psychomotor retardation
|
[NCBI]
|
6.8298e-05
|
|
|
velofacioskeletal syndrome
|
[NCBI]
|
6.8298e-05
|
|
|
acrofrontofacionasal dysostosis syndrome
|
[NCBI]
|
6.8298e-05
|
|
|
camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye
|
[NCBI]
|
6.8298e-05
|
|
|
NSX
|
[NCBI]
|
6.8298e-05
|
|
|
telecanthus
|
[NCBI]
|
6.8298e-05
|
|
|
mental retardation, microcephaly, growth retardation, joint contractures, and facial dysmorphism
|
[NCBI]
|
6.8298e-05
|
|
|
deafness, autosomal recessive
|
[NCBI]
|
6.8298e-05
|
|
|
ATXN1
|
[NCBI]
|
6.77669e-05
|
|
|
TGFBR2
|
[NCBI]
|
6.6965e-05
|
|
|
WHS
|
[NCBI]
|
6.37833e-05
|
|
|
FGFR2
|
[NCBI]
|
6.36389e-05
|
|
|
leopard syndrome 1
|
[NCBI]
|
6.29977e-05
|
|
|
MCOPS7
|
[NCBI]
|
6.10247e-05
|
|
|
OCRL
|
[NCBI]
|
6.00868e-05
|
|
|
moved to 310600
|
[NCBI]
|
5.9876e-05
|
|
|
gorlin-chaudhry-moss syndrome
|
[NCBI]
|
5.9876e-05
|
|
|
fibrosis of extraocular muscles, congenital, with synergistic divergence
|
[NCBI]
|
5.9876e-05
|
|
|
MCOPS5
|
[NCBI]
|
5.9876e-05
|
|
|
yemenite deaf-blind hypopigmentation syndrome
|
[NCBI]
|
5.9876e-05
|
|
|
albinism, ocular, with sensorineural deafness
|
[NCBI]
|
5.9876e-05
|
|
|
brachial amelia, forebrain defects, and facial clefts
|
[NCBI]
|
5.9876e-05
|
|
|
cree mental retardation syndrome
|
[NCBI]
|
5.9876e-05
|
|
|
hypomagnesemia, renal, with ocular involvement
|
[NCBI]
|
5.9876e-05
|
|
|
oculocerebral hypopigmentation syndrome of preus
|
[NCBI]
|
5.9876e-05
|
|
|
arhinia, choanal atresia, and microphthalmia
|
[NCBI]
|
5.9876e-05
|
|
|
coloboma, uveal, with cleft lip and palate and mental retardation
|
[NCBI]
|
5.9876e-05
|
|
|
bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, and distinctive facial features
|
[NCBI]
|
5.9876e-05
|
|
|
al-gazali syndrome
|
[NCBI]
|
5.9876e-05
|
|
|
DA2A
|
[NCBI]
|
5.91787e-05
|
|
|
HMI
|
[NCBI]
|
5.54782e-05
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
5.50714e-05
|
|
|
FOXF1
|
[NCBI]
|
5.46025e-05
|
|
|
DNAJB1
|
[NCBI]
|
5.46025e-05
|
|
|
IL17RA
|
[NCBI]
|
5.46025e-05
|
|
|
CLDN19
|
[NCBI]
|
5.46025e-05
|
|
|
ARIX
|
[NCBI]
|
5.46025e-05
|
|
|
CECR2
|
[NCBI]
|
5.46025e-05
|
|
|
RCN1
|
[NCBI]
|
5.46025e-05
|
|
|
SLC25A18
|
[NCBI]
|
5.46025e-05
|
|
|
FOXL1
|
[NCBI]
|
5.46025e-05
|
|
|
brachycephaly, deafness, cataract, microstomia, and mental retardation
|
[NCBI]
|
5.44279e-05
|
|
|
CFEOM2
|
[NCBI]
|
5.44279e-05
|
|
|
coach syndrome
|
[NCBI]
|
5.44279e-05
|
|
|
coloboma of macula with type b brachydactyly
|
[NCBI]
|
5.44279e-05
|
|
|
gombo syndrome
|
[NCBI]
|
5.44279e-05
|
|
|
LGMD2K
|
[NCBI]
|
5.44279e-05
|
|
|
OCA1A
|
[NCBI]
|
5.28067e-05
|
|
|
corneal dystrophy and perceptive deafness
|
[NCBI]
|
5.03922e-05
|
|
|
hunter-mcalpine craniosynostosis syndrome
|
[NCBI]
|
5.03922e-05
|
|
|
cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome
|
[NCBI]
|
5.03922e-05
|
|
|
hemangiomas, cavernous, of face and supraumbilical midline raphe
|
[NCBI]
|
5.03922e-05
|
|
|
RAB3GAP1
|
[NCBI]
|
4.94113e-05
|
|
|
DYNLL1
|
[NCBI]
|
4.94113e-05
|
|
|
GDF6
|
[NCBI]
|
4.94113e-05
|
|
|
SOX14
|
[NCBI]
|
4.94113e-05
|
|
|
VSX1
|
[NCBI]
|
4.94113e-05
|
|
|
ADAMTS1
|
[NCBI]
|
4.94113e-05
|
|
|
retinal arteries, tortuosity of
|
[NCBI]
|
4.94113e-05
|
|
|
chromosome 18p deletion syndrome
|
[NCBI]
|
4.71883e-05
|
|
|
isotretinoin embryopathy-like syndrome
|
[NCBI]
|
4.71883e-05
|
|
|
pelvis-shoulder dysplasia
|
[NCBI]
|
4.71883e-05
|
|
|
chorioretinal dysplasia-microcephaly-mental retardation syndrome
|
[NCBI]
|
4.71883e-05
|
|
|
ramon syndrome
|
[NCBI]
|
4.71883e-05
|
|
|
cardiomyopathy, infantile histiocytoid
|
[NCBI]
|
4.71883e-05
|
|
|
SLC4A4
|
[NCBI]
|
4.60437e-05
|
|
|
FRAS1
|
[NCBI]
|
4.60437e-05
|
|
|
NHEJ1
|
[NCBI]
|
4.60437e-05
|
|
|
ichthyosiform erythroderma, corneal involvement, and deafness
|
[NCBI]
|
4.45341e-05
|
|
|
donnai-barrow syndrome
|
[NCBI]
|
4.45341e-05
|
|
|
3-@methylglutaconic aciduria, type iii
|
[NCBI]
|
4.45341e-05
|
|
|
spondylocarpotarsal synostosis syndrome
|
[NCBI]
|
4.45341e-05
|
|
|
renal tubular acidosis, proximal, with ocular abnormalities and mental retardation
|
[NCBI]
|
4.45341e-05
|
|
|
CCT
|
[NCBI]
|
4.35421e-05
|
|
|
cataract-microcornea syndrome
|
[NCBI]
|
4.22706e-05
|
|
|
MDC1C
|
[NCBI]
|
4.22706e-05
|
|
|
myopathy, centronuclear, autosomal dominant
|
[NCBI]
|
4.22706e-05
|
|
|
CHD7
|
[NCBI]
|
4.15507e-05
|
|
|
LGR8
|
[NCBI]
|
4.15507e-05
|
|
|
CHX10
|
[NCBI]
|
4.15507e-05
|
|
|
NSDHL
|
[NCBI]
|
4.15507e-05
|
|
|
NF2
|
[NCBI]
|
4.09209e-05
|
|
|
MFS2
|
[NCBI]
|
4.02992e-05
|
|
|
MLF1
|
[NCBI]
|
3.98964e-05
|
|
|
PPARBP
|
[NCBI]
|
3.98964e-05
|
|
|
ND
|
[NCBI]
|
3.91653e-05
|
|
|
floating-harbor syndrome
|
[NCBI]
|
3.85545e-05
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
3.85545e-05
|
|
|
por deficiency
|
[NCBI]
|
3.85545e-05
|
|
|
WNT1
|
[NCBI]
|
3.84816e-05
|
|
|
JMJD6
|
[NCBI]
|
3.84816e-05
|
|
|
HSPCA
|
[NCBI]
|
3.84816e-05
|
|
|
kabuki syndrome
|
[NCBI]
|
3.80999e-05
|
|
|
LARGE
|
[NCBI]
|
3.7246e-05
|
|
|
PAX1
|
[NCBI]
|
3.7246e-05
|
|
|
MCOPS9
|
[NCBI]
|
3.6991e-05
|
|
|
KCS
|
[NCBI]
|
3.6991e-05
|
|
|
APAF1
|
[NCBI]
|
3.61494e-05
|
|
|
EYA4
|
[NCBI]
|
3.61494e-05
|
|
|
MEIS1
|
[NCBI]
|
3.61494e-05
|
|
|
CBX5
|
[NCBI]
|
3.61494e-05
|
|
|
POR
|
[NCBI]
|
3.61494e-05
|
|
|
wagr syndrome
|
[NCBI]
|
3.55755e-05
|
|
|
PITX3
|
[NCBI]
|
3.51639e-05
|
|
|
LADD
|
[NCBI]
|
3.42833e-05
|
|
|
ERCC1
|
[NCBI]
|
3.345e-05
|
|
|
FKTN
|
[NCBI]
|
3.345e-05
|
|
|
HOMG3
|
[NCBI]
|
3.30953e-05
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
3.30953e-05
|
|
|
VEGF
|
[NCBI]
|
3.28029e-05
|
|
|
WGN1
|
[NCBI]
|
3.19966e-05
|
|
|
HPE3
|
[NCBI]
|
3.19966e-05
|
|
|
ERCC6
|
[NCBI]
|
3.13414e-05
|
|
|
EBP
|
[NCBI]
|
3.13414e-05
|
|
|
pitt syndrome
|
[NCBI]
|
3.09754e-05
|
|
|
NCIE1
|
[NCBI]
|
3.09754e-05
|
|
|
EIF4E
|
[NCBI]
|
3.0155e-05
|
|
|
FOXL2
|
[NCBI]
|
2.96127e-05
|
|
|
septooptic dysplasia
|
[NCBI]
|
2.91279e-05
|
|
|
CYP1B1
|
[NCBI]
|
2.90994e-05
|
|
|
EYA1
|
[NCBI]
|
2.86124e-05
|
|
|
MYH9
|
[NCBI]
|
2.86124e-05
|
|
|
SMMCI
|
[NCBI]
|
2.82871e-05
|
|
|
JBS
|
[NCBI]
|
2.82871e-05
|
|
|
SMS
|
[NCBI]
|
2.68824e-05
|
|
|
SOX10
|
[NCBI]
|
2.68811e-05
|
|
|
RHS
|
[NCBI]
|
2.67431e-05
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
2.60311e-05
|
|
|
FKRP
|
[NCBI]
|
2.57633e-05
|
|
|
GLC3A
|
[NCBI]
|
2.53542e-05
|
|
|
HNA
|
[NCBI]
|
2.47094e-05
|
|
|
FED
|
[NCBI]
|
2.47094e-05
|
|
|
FGF8
|
[NCBI]
|
2.38625e-05
|
|
|
MRXHF1
|
[NCBI]
|
2.35057e-05
|
|
|
FLNA
|
[NCBI]
|
2.30405e-05
|
|
|
donohue syndrome
|
[NCBI]
|
2.29423e-05
|
|
|
OA1
|
[NCBI]
|
2.25306e-05
|
|
|
ABL1
|
[NCBI]
|
2.25306e-05
|
|
|
ABS
|
[NCBI]
|
2.13843e-05
|
|
|
LCA1
|
[NCBI]
|
2.09041e-05
|
|
|
AHR
|
[NCBI]
|
2.01813e-05
|
|
|
MEN2B
|
[NCBI]
|
1.99949e-05
|
|
|
TBS
|
[NCBI]
|
1.83541e-05
|
|
|
CDPX2
|
[NCBI]
|
1.83541e-05
|
|
|
PAX3
|
[NCBI]
|
1.82621e-05
|
|
|
POAG
|
[NCBI]
|
1.79762e-05
|
|
|
GLC1A
|
[NCBI]
|
1.79762e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
1.76098e-05
|
|
|
STL1
|
[NCBI]
|
1.76098e-05
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
1.69093e-05
|
|
|
PTH
|
[NCBI]
|
1.6222e-05
|
|
|
MITF
|
[NCBI]
|
1.57412e-05
|
|
|
FDH
|
[NCBI]
|
1.56234e-05
|
|
|
WFS1
|
[NCBI]
|
1.53234e-05
|
|
|
SJS1
|
[NCBI]
|
1.53234e-05
|
|
|
BCNS
|
[NCBI]
|
1.51689e-05
|
|
|
MYOC
|
[NCBI]
|
1.40818e-05
|
|
|
LI1
|
[NCBI]
|
1.39344e-05
|
|
|
FBN1
|
[NCBI]
|
1.2946e-05
|
|
|
HNPP
|
[NCBI]
|
1.29397e-05
|
|
|
MTM1
|
[NCBI]
|
1.27052e-05
|
|
|
CDKN2A
|
[NCBI]
|
1.2627e-05
|
|
|
LRP1
|
[NCBI]
|
1.19539e-05
|
|
|
BRCA2
|
[NCBI]
|
1.1812e-05
|
|
|
RSTS
|
[NCBI]
|
1.14027e-05
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
9.90236e-06
|
|
|
EGF
|
[NCBI]
|
8.47049e-06
|
|
|
PCNA
|
[NCBI]
|
7.29135e-06
|
|
|
FTD
|
[NCBI]
|
7.24613e-06
|
|
|
HHT
|
[NCBI]
|
6.77025e-06
|
|
|
LCAT
|
[NCBI]
|
6.6374e-06
|
|
|
TS
|
[NCBI]
|
4.81022e-06
|
|
|
GFAP
|
[NCBI]
|
4.39203e-06
|
|
|
CDLS1
|
[NCBI]
|
4.3618e-06
|
|
|
EGFR
|
[NCBI]
|
3.7641e-06
|
|
|
VHL
|
[NCBI]
|
3.49619e-06
|
|
|
AR
|
[NCBI]
|
2.38471e-06
|
|
|
DGS
|
[NCBI]
|
1.09549e-06
|
|
|
PWS
|
[NCBI]
|
1.00308e-06
|
|
|
HD
|
[NCBI]
|
6.71233e-07
|
|
|
WBS
|
[NCBI]
|
6.70047e-07
|
|
|
AS
|
[NCBI]
|
3.67152e-07
|
|
|
SLOS
|
[NCBI]
|
2.9416e-07
|
|
|
BWS
|
[NCBI]
|
2.15843e-07
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
1.41524e-07
|
|