|
OMIM |
Link |
Information gain |
01 |
|
deafness, congenital, and onychodystrophy, recessive form
|
[NCBI]
|
0.00725196
|
|
|
alport syndrome, autosomal dominant
|
[NCBI]
|
0.00703954
|
|
|
ADFN
|
[NCBI]
|
0.00527979
|
|
|
bulbar palsy, progressive, with sensorineural deafness
|
[NCBI]
|
0.00337391
|
|
|
GJB2
|
[NCBI]
|
0.00331533
|
|
|
gonadal dysgenesis, xx type, with deafness
|
[NCBI]
|
0.00315808
|
|
|
DFN2
|
[NCBI]
|
0.00300272
|
|
|
neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers
|
[NCBI]
|
0.00202064
|
|
|
SCAR3
|
[NCBI]
|
0.00202064
|
|
|
DFNB5
|
[NCBI]
|
0.00202064
|
|
|
RA
|
[NCBI]
|
0.00165854
|
|
|
PDS
|
[NCBI]
|
0.00164383
|
|
|
deafness, conductive, with stapes fixation
|
[NCBI]
|
0.00146723
|
|
|
DFNB1
|
[NCBI]
|
0.00143764
|
|
|
deafness, conductive, with malformed external ear
|
[NCBI]
|
0.00134586
|
|
|
DFNB13
|
[NCBI]
|
0.00134586
|
|
|
deafness, congenital, with vitiligo and achalasia
|
[NCBI]
|
0.00134586
|
|
|
DFNB33
|
[NCBI]
|
0.00134586
|
|
|
ketoaciduria with mental deficiency and other features
|
[NCBI]
|
0.00134586
|
|
|
digeorge syndrome/velocardiofacial syndrome spectrum of malformation 2
|
[NCBI]
|
0.00119931
|
|
|
deafness, progressive high-tone neural
|
[NCBI]
|
0.00119931
|
|
|
ND
|
[NCBI]
|
0.00115351
|
|
|
cowchock syndrome
|
[NCBI]
|
0.00104781
|
|
|
split-hand/foot malformation with sensorineural hearing loss
|
[NCBI]
|
0.00104781
|
|
|
earlobes, thickened, with conductive deafness from incudostapedial abnormalities
|
[NCBI]
|
0.00104781
|
|
|
deafness, high-frequency sensorineural, x-linked
|
[NCBI]
|
0.00104781
|
|
|
chudley-mccullough syndrome
|
[NCBI]
|
0.00104781
|
|
|
hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome
|
[NCBI]
|
0.00104781
|
|
|
keratitis-ichthyosis-deafness syndrome, autosomal dominant
|
[NCBI]
|
0.000972678
|
|
|
johnson neuroectodermal syndrome
|
[NCBI]
|
0.000914293
|
|
|
MTRNR1
|
[NCBI]
|
0.0007554
|
|
|
MYO7A
|
[NCBI]
|
0.000748679
|
|
|
MTS
|
[NCBI]
|
0.000724381
|
|
|
WS1
|
[NCBI]
|
0.000724189
|
|
|
CF
|
[NCBI]
|
0.000678408
|
|
|
DFNM1
|
[NCBI]
|
0.000672321
|
|
|
DFN6
|
[NCBI]
|
0.000672321
|
|
|
flynn-aird syndrome
|
[NCBI]
|
0.000672321
|
|
|
ataxia, deafness, and cardiomyopathy
|
[NCBI]
|
0.000672321
|
|
|
DFNA24
|
[NCBI]
|
0.000672321
|
|
|
DFNB66
|
[NCBI]
|
0.000672321
|
|
|
triphalangeal thumb, nonopposable
|
[NCBI]
|
0.000672321
|
|
|
DFNB35
|
[NCBI]
|
0.000672321
|
|
|
DFNB26
|
[NCBI]
|
0.000672321
|
|
|
deafness, mid-tone neural
|
[NCBI]
|
0.000672321
|
|
|
SPG24
|
[NCBI]
|
0.000672321
|
|
|
DFNB48
|
[NCBI]
|
0.000672321
|
|
|
deafness, congenital neurosensory, autosomal recessive 38
|
[NCBI]
|
0.000672321
|
|
|
usher syndrome, type i
|
[NCBI]
|
0.00066703
|
|
|
ALMS
|
[NCBI]
|
0.000666525
|
|
|
JLNS1
|
[NCBI]
|
0.00066282
|
|
|
hypoparathyroidism, sensorineural deafness, and renal disease
|
[NCBI]
|
0.000639462
|
|
|
diabetes-deafness syndrome, maternally transmitted
|
[NCBI]
|
0.000618419
|
|
|
ichthyosiform erythroderma, corneal involvement, and deafness
|
[NCBI]
|
0.000562761
|
|
|
deafness, autosomal recessive
|
[NCBI]
|
0.000562367
|
|
|
MYO15A
|
[NCBI]
|
0.000547763
|
|
|
MYO6
|
[NCBI]
|
0.000527356
|
|
|
wildervanck syndrome
|
[NCBI]
|
0.000519893
|
|
|
POU3F4
|
[NCBI]
|
0.000490548
|
|
|
DFNA3
|
[NCBI]
|
0.000485706
|
|
|
deafness, aminoglycoside-induced
|
[NCBI]
|
0.000485706
|
|
|
DFNB8
|
[NCBI]
|
0.000482289
|
|
|
DFNB10
|
[NCBI]
|
0.000482289
|
|
|
DFNA4
|
[NCBI]
|
0.000482289
|
|
|
NDP
|
[NCBI]
|
0.000470434
|
|
|
SLC26A4
|
[NCBI]
|
0.000462693
|
|
|
DFNA7
|
[NCBI]
|
0.000456553
|
|
|
DFNA41
|
[NCBI]
|
0.000456553
|
|
|
DFNA18
|
[NCBI]
|
0.000456553
|
|
|
anorectal anomalies
|
[NCBI]
|
0.000456553
|
|
|
burn-mckeown syndrome
|
[NCBI]
|
0.000456553
|
|
|
fibromatosis, gingival, with progressive deafness
|
[NCBI]
|
0.000456553
|
|
|
oculootofacial dysplasia
|
[NCBI]
|
0.000456553
|
|
|
spastic diplegia, infantile type
|
[NCBI]
|
0.000456553
|
|
|
charge syndrome
|
[NCBI]
|
0.000452472
|
|
|
DFNB3
|
[NCBI]
|
0.000435865
|
|
|
PCDH15
|
[NCBI]
|
0.000422653
|
|
|
OTOF
|
[NCBI]
|
0.000414035
|
|
|
keratoderma, palmoplantar, with deafness
|
[NCBI]
|
0.00040959
|
|
|
DFNB2
|
[NCBI]
|
0.000401843
|
|
|
deafness, neural, with atypical atopic dermatitis
|
[NCBI]
|
0.000401843
|
|
|
TMPRSS3
|
[NCBI]
|
0.00037655
|
|
|
erythrokeratodermia variabilis 3
|
[NCBI]
|
0.000376477
|
|
|
tune deafness
|
[NCBI]
|
0.000376477
|
|
|
branchiootic syndrome 2
|
[NCBI]
|
0.000376477
|
|
|
MTTL1
|
[NCBI]
|
0.000361729
|
|
|
TRMA
|
[NCBI]
|
0.000361424
|
|
|
DFNB18
|
[NCBI]
|
0.000358134
|
|
|
TRMU
|
[NCBI]
|
0.000348344
|
|
|
MTTS1
|
[NCBI]
|
0.000342014
|
|
|
renal tubular acidosis, distal, with progressive nerve deafness
|
[NCBI]
|
0.000337637
|
|
|
EVA
|
[NCBI]
|
0.000337306
|
|
|
MDM1
|
[NCBI]
|
0.000334923
|
|
|
TIMM8A
|
[NCBI]
|
0.000334923
|
|
|
GJB6
|
[NCBI]
|
0.000331187
|
|
|
CDH23
|
[NCBI]
|
0.000331187
|
|
|
DFN4
|
[NCBI]
|
0.000325245
|
|
|
DFNB15
|
[NCBI]
|
0.000325245
|
|
|
woolly hair, autosomal dominant
|
[NCBI]
|
0.000325245
|
|
|
TECTA
|
[NCBI]
|
0.000317464
|
|
|
GJB3
|
[NCBI]
|
0.000313248
|
|
|
muckle-wells syndrome
|
[NCBI]
|
0.000311837
|
|
|
WFS1
|
[NCBI]
|
0.000303031
|
|
|
DFNB9
|
[NCBI]
|
0.000290049
|
|
|
USH2B
|
[NCBI]
|
0.000287711
|
|
|
hydroxykynureninuria
|
[NCBI]
|
0.000287711
|
|
|
HTC2
|
[NCBI]
|
0.000287711
|
|
|
USH1C
|
[NCBI]
|
0.000287228
|
|
|
MITF
|
[NCBI]
|
0.000283411
|
|
|
SLC19A2
|
[NCBI]
|
0.000281557
|
|
|
tietz syndrome
|
[NCBI]
|
0.000280978
|
|
|
DFNA17
|
[NCBI]
|
0.000280978
|
|
|
OSMED
|
[NCBI]
|
0.000279665
|
|
|
epstein syndrome
|
[NCBI]
|
0.000279665
|
|
|
DFNA2
|
[NCBI]
|
0.000279665
|
|
|
MYH9
|
[NCBI]
|
0.00027401
|
|
|
DFNA6
|
[NCBI]
|
0.000270519
|
|
|
USH2A
|
[NCBI]
|
0.000265557
|
|
|
charcot-marie-tooth disease and deafness
|
[NCBI]
|
0.000259741
|
|
|
klippel-feil syndrome, autosomal recessive
|
[NCBI]
|
0.000258245
|
|
|
WS2A
|
[NCBI]
|
0.000254953
|
|
|
COCH
|
[NCBI]
|
0.000253534
|
|
|
CLDN14
|
[NCBI]
|
0.000248655
|
|
|
DFNA1
|
[NCBI]
|
0.000244273
|
|
|
BOS1
|
[NCBI]
|
0.000242005
|
|
|
DFNA15
|
[NCBI]
|
0.000241029
|
|
|
albinism, ocular, with sensorineural deafness
|
[NCBI]
|
0.000241029
|
|
|
fountain syndrome
|
[NCBI]
|
0.000241029
|
|
|
leopard syndrome 1
|
[NCBI]
|
0.000238226
|
|
|
ASD1
|
[NCBI]
|
0.000234111
|
|
|
POU4F3
|
[NCBI]
|
0.000232136
|
|
|
bartter syndrome, infantile, with sensorineural deafness
|
[NCBI]
|
0.000221769
|
|
|
STL1
|
[NCBI]
|
0.000214618
|
|
|
GATA3
|
[NCBI]
|
0.00020941
|
|
|
USH1D
|
[NCBI]
|
0.000205338
|
|
|
DFNA12
|
[NCBI]
|
0.000205338
|
|
|
CMTX5
|
[NCBI]
|
0.00020468
|
|
|
choroideremia with deafness and obesity
|
[NCBI]
|
0.00020468
|
|
|
LQT1
|
[NCBI]
|
0.00020103
|
|
|
COL11A2
|
[NCBI]
|
0.000199783
|
|
|
MRXHF1
|
[NCBI]
|
0.000197901
|
|
|
microtia with meatal atresia and conductive deafness
|
[NCBI]
|
0.000196256
|
|
|
acrodysostosis
|
[NCBI]
|
0.000196256
|
|
|
deafness, congenital, with keratopachydermia and constrictions of fingers and toes
|
[NCBI]
|
0.000192373
|
|
|
USH1C
|
[NCBI]
|
0.000192373
|
|
|
DFNB6
|
[NCBI]
|
0.000186708
|
|
|
corneal dystrophy and perceptive deafness
|
[NCBI]
|
0.000186708
|
|
|
DFNA10
|
[NCBI]
|
0.000186708
|
|
|
DFNB12
|
[NCBI]
|
0.000186708
|
|
|
knuckle pads, leukonychia, and sensorineural deafness
|
[NCBI]
|
0.000186708
|
|
|
TMC1
|
[NCBI]
|
0.000184702
|
|
|
iminoglycinuria
|
[NCBI]
|
0.000180944
|
|
|
BOR1
|
[NCBI]
|
0.000180097
|
|
|
MTTE
|
[NCBI]
|
0.000177128
|
|
|
OTOG
|
[NCBI]
|
0.000174066
|
|
|
DFNB7
|
[NCBI]
|
0.000173953
|
|
|
DFNA20
|
[NCBI]
|
0.000173953
|
|
|
DFNA11
|
[NCBI]
|
0.000173953
|
|
|
TBS
|
[NCBI]
|
0.00016795
|
|
|
OTSC1
|
[NCBI]
|
0.000167389
|
|
|
SOX10
|
[NCBI]
|
0.000166446
|
|
|
DFNA5
|
[NCBI]
|
0.000163993
|
|
|
donnai-barrow syndrome
|
[NCBI]
|
0.000163993
|
|
|
optic atrophy 1 and deafness
|
[NCBI]
|
0.000163993
|
|
|
deafness, nerve type, with mesenteric diverticula of small bowel and progressive sensory neuropathy
|
[NCBI]
|
0.00016066
|
|
|
DHS
|
[NCBI]
|
0.00016066
|
|
|
deafness, cochlear, with myopia and intellectual impairment
|
[NCBI]
|
0.00016066
|
|
|
cerebellar ataxia, deafness, and narcolepsy
|
[NCBI]
|
0.00016066
|
|
|
DFNA22
|
[NCBI]
|
0.00016066
|
|
|
deafness, congenital, with total albinism
|
[NCBI]
|
0.00016066
|
|
|
renal failure, progressive, with hypertension
|
[NCBI]
|
0.00015527
|
|
|
PAX3
|
[NCBI]
|
0.000154994
|
|
|
KCNQ4
|
[NCBI]
|
0.00015263
|
|
|
ESPN
|
[NCBI]
|
0.000151735
|
|
|
JBS
|
[NCBI]
|
0.000148412
|
|
|
DFNA9
|
[NCBI]
|
0.000142804
|
|
|
USH2A
|
[NCBI]
|
0.00014031
|
|
|
CSA
|
[NCBI]
|
0.000138853
|
|
|
OSCS
|
[NCBI]
|
0.000134435
|
|
|
abcd syndrome
|
[NCBI]
|
0.00012982
|
|
|
DFNB16
|
[NCBI]
|
0.00012982
|
|
|
optic atrophy, hearing loss, and peripheral neuropathy, autosomal recessive
|
[NCBI]
|
0.00012982
|
|
|
DFNB21
|
[NCBI]
|
0.00012982
|
|
|
ARTS
|
[NCBI]
|
0.00012982
|
|
|
DFNA36
|
[NCBI]
|
0.00012982
|
|
|
yemenite deaf-blind hypopigmentation syndrome
|
[NCBI]
|
0.00012982
|
|
|
retinohepatoendocrinologic syndrome
|
[NCBI]
|
0.00012982
|
|
|
DFNB31
|
[NCBI]
|
0.00012982
|
|
|
OMP
|
[NCBI]
|
0.00012522
|
|
|
marshall syndrome
|
[NCBI]
|
0.000117348
|
|
|
DURS1
|
[NCBI]
|
0.000117095
|
|
|
MCOLN3
|
[NCBI]
|
0.000116021
|
|
|
MRPS12
|
[NCBI]
|
0.000116021
|
|
|
brachycephaly, deafness, cataract, microstomia, and mental retardation
|
[NCBI]
|
0.000115944
|
|
|
USH1G
|
[NCBI]
|
0.000115944
|
|
|
USH1F
|
[NCBI]
|
0.000115944
|
|
|
CDHS
|
[NCBI]
|
0.000115944
|
|
|
branchial arch syndrome, x-linked
|
[NCBI]
|
0.000115944
|
|
|
EDNRB
|
[NCBI]
|
0.000115783
|
|
|
phosphoribosylpyrophosphate synthetase superactivity
|
[NCBI]
|
0.000114208
|
|
|
EYA4
|
[NCBI]
|
0.000113545
|
|
|
waardenburg-shah syndrome
|
[NCBI]
|
0.000111273
|
|
|
FMD
|
[NCBI]
|
0.000111273
|
|
|
BJS
|
[NCBI]
|
9.92081e-05
|
|
|
SPTBN4
|
[NCBI]
|
9.70677e-05
|
|
|
TIMM13
|
[NCBI]
|
9.70677e-05
|
|
|
MTTR
|
[NCBI]
|
9.70677e-05
|
|
|
DIAPH1
|
[NCBI]
|
9.70677e-05
|
|
|
THRB
|
[NCBI]
|
9.65415e-05
|
|
|
KCNQ1
|
[NCBI]
|
9.33396e-05
|
|
|
MELAS
|
[NCBI]
|
9.10919e-05
|
|
|
EGF
|
[NCBI]
|
9.10444e-05
|
|
|
WHRN
|
[NCBI]
|
8.85174e-05
|
|
|
SLC12A2
|
[NCBI]
|
8.85174e-05
|
|
|
ATP2B2
|
[NCBI]
|
8.85174e-05
|
|
|
USH1G
|
[NCBI]
|
8.85174e-05
|
|
|
CRYM
|
[NCBI]
|
8.85174e-05
|
|
|
GRTH
|
[NCBI]
|
8.84203e-05
|
|
|
WFS1
|
[NCBI]
|
8.61147e-05
|
|
|
STRC
|
[NCBI]
|
8.26569e-05
|
|
|
cerebellar ataxia and neurosensory deafness
|
[NCBI]
|
8.03172e-05
|
|
|
microcephaly-deafness syndrome
|
[NCBI]
|
8.03172e-05
|
|
|
brain anomalies, retardation, ectodermal dysplasia, skeletal malformations, hirschsprung disease, ear/eye anomalies, cleft palate/cryptorchidism, and kidney dysplasia/hypoplasia
|
[NCBI]
|
8.03172e-05
|
|
|
DFNB37
|
[NCBI]
|
8.03172e-05
|
|
|
rod-cone dystrophy, sensorineural deafness, and fanconi-type renal dysfunction
|
[NCBI]
|
8.03172e-05
|
|
|
hirschsprung disease with polydactyly, renal agenesis, and deafness
|
[NCBI]
|
8.03172e-05
|
|
|
pulmonic stenosis and deafness
|
[NCBI]
|
8.03172e-05
|
|
|
retinitis pigmentosa inversa with deafness
|
[NCBI]
|
8.03172e-05
|
|
|
deafness, sensorineural, with pituitary dwarfism
|
[NCBI]
|
8.03172e-05
|
|
|
spastic quadriplegia, retinitis pigmentosa, and mental retardation
|
[NCBI]
|
8.03172e-05
|
|
|
DFNB30
|
[NCBI]
|
8.03172e-05
|
|
|
osteogenesis imperfecta with opalescent teeth, blue sclerae and wormian bones, but without fractures
|
[NCBI]
|
8.03172e-05
|
|
|
myoclonic epilepsy, congenital deafness, macular dystrophy, and psychiatric disorders
|
[NCBI]
|
8.03172e-05
|
|
|
otofacioosseous-gonadal syndrome
|
[NCBI]
|
8.03172e-05
|
|
|
cataracts, congenital, with sensorineural deafness, down syndrome-like facial appearance, short stature, and mental retardation
|
[NCBI]
|
8.03172e-05
|
|
|
schimke x-linked mental retardation syndrome
|
[NCBI]
|
8.03172e-05
|
|
|
spondyloepiphyseal dysplasia, myopia, and sensorineural deafness
|
[NCBI]
|
8.03172e-05
|
|
|
brachydactyly, intraventricular septal defect, and deafness
|
[NCBI]
|
8.03172e-05
|
|
|
nephrosis with deafness and urinary tract and digital malformations
|
[NCBI]
|
8.03172e-05
|
|
|
mitral regurgitation, conductive deafness, and fusion of cervical vertebrae and of carpal and tarsal bones
|
[NCBI]
|
8.03172e-05
|
|
|
corneal hypesthesia with retinal abnormalities, sensorineural deafness, unusual facies, persistent ductus arteriosus, and mental retardation
|
[NCBI]
|
8.03172e-05
|
|
|
USH1H
|
[NCBI]
|
8.03172e-05
|
|
|
DFNB23
|
[NCBI]
|
8.03172e-05
|
|
|
nathalie syndrome
|
[NCBI]
|
8.03172e-05
|
|
|
prune belly syndrome with pulmonic stenosis, mental retardation, and deafness
|
[NCBI]
|
8.03172e-05
|
|
|
DFNB36
|
[NCBI]
|
8.03172e-05
|
|
|
atherosclerosis, premature, with deafness, nephropathy, diabetes mellitus, photomyoclonus, and degenerative neurologic disease
|
[NCBI]
|
8.03172e-05
|
|
|
deafness, autosomal dominant 39, with dentinogenesis imperfecta 1
|
[NCBI]
|
8.03172e-05
|
|
|
spastic paraparesis and deafness
|
[NCBI]
|
8.03172e-05
|
|
|
cardioauditory syndrome of sanchez cascos
|
[NCBI]
|
8.03172e-05
|
|
|
spastic paraplegia, sensorineural deafness, mental retardation, and progressive nephropathy
|
[NCBI]
|
8.03172e-05
|
|
|
dislocated elbows, bowed tibias, scoliosis, deafness, cataract, microcephaly, and mental retardation
|
[NCBI]
|
8.03172e-05
|
|
|
pili torti and developmental delay
|
[NCBI]
|
8.03172e-05
|
|
|
mandibulofacial dysostosis with ptosis, autosomal dominant
|
[NCBI]
|
8.03172e-05
|
|
|
NF4
|
[NCBI]
|
8.03172e-05
|
|
|
photomyoclonus, diabetes mellitus, deafness, nephropathy, and cerebral dysfunction
|
[NCBI]
|
8.03172e-05
|
|
|
emphysema, congenital, with deafness, penoscrotal web, and mental retardation
|
[NCBI]
|
8.03172e-05
|
|
|
cataract, membranous
|
[NCBI]
|
8.03172e-05
|
|
|
PTH
|
[NCBI]
|
7.95329e-05
|
|
|
RP
|
[NCBI]
|
7.85799e-05
|
|
|
CJD
|
[NCBI]
|
7.78425e-05
|
|
|
MTTK
|
[NCBI]
|
7.50011e-05
|
|
|
ACTG1
|
[NCBI]
|
7.45354e-05
|
|
|
WS3
|
[NCBI]
|
7.4158e-05
|
|
|
alport syndrome, autosomal recessive
|
[NCBI]
|
7.4158e-05
|
|
|
COL4A4
|
[NCBI]
|
7.14749e-05
|
|
|
MERRF
|
[NCBI]
|
7.14443e-05
|
|
|
USH3
|
[NCBI]
|
7.14443e-05
|
|
|
WZS
|
[NCBI]
|
7.14443e-05
|
|
|
PBT
|
[NCBI]
|
7.14443e-05
|
|
|
SYNS1
|
[NCBI]
|
7.14443e-05
|
|
|
SYM1
|
[NCBI]
|
6.89581e-05
|
|
|
OPD1
|
[NCBI]
|
6.66654e-05
|
|
|
EGFR
|
[NCBI]
|
6.62967e-05
|
|
|
FTNS
|
[NCBI]
|
6.45395e-05
|
|
|
SLC45A2
|
[NCBI]
|
6.4436e-05
|
|
|
OPD2
|
[NCBI]
|
6.25586e-05
|
|
|
DRRS
|
[NCBI]
|
6.07051e-05
|
|
|
COL11A1
|
[NCBI]
|
5.92933e-05
|
|
|
MYH10
|
[NCBI]
|
5.79988e-05
|
|
|
MYH14
|
[NCBI]
|
5.79988e-05
|
|
|
MCOLN2
|
[NCBI]
|
5.79988e-05
|
|
|
GTPBP3
|
[NCBI]
|
5.79988e-05
|
|
|
AFG3L1
|
[NCBI]
|
5.79988e-05
|
|
|
ESRRG
|
[NCBI]
|
5.79988e-05
|
|
|
TMEM2
|
[NCBI]
|
5.79988e-05
|
|
|
TIMM9
|
[NCBI]
|
5.79988e-05
|
|
|
MYO3A
|
[NCBI]
|
5.79988e-05
|
|
|
OTOR
|
[NCBI]
|
5.79988e-05
|
|
|
EML1
|
[NCBI]
|
5.79988e-05
|
|
|
deafness locus-associated putative guanine nucleotide exchange factor
|
[NCBI]
|
5.79988e-05
|
|
|
SLC12A7
|
[NCBI]
|
5.79988e-05
|
|
|
TMC2
|
[NCBI]
|
5.79988e-05
|
|
|
TIMM10
|
[NCBI]
|
5.79988e-05
|
|
|
LHFPL4
|
[NCBI]
|
5.79988e-05
|
|
|
TUBA3C
|
[NCBI]
|
5.79988e-05
|
|
|
otospiralin
|
[NCBI]
|
5.79988e-05
|
|
|
SIRT3
|
[NCBI]
|
5.79988e-05
|
|
|
WDR4
|
[NCBI]
|
5.79988e-05
|
|
|
MED12L
|
[NCBI]
|
5.79988e-05
|
|
|
FXC1
|
[NCBI]
|
5.79988e-05
|
|
|
OASD
|
[NCBI]
|
5.79591e-05
|
|
|
BDB2
|
[NCBI]
|
5.79591e-05
|
|
|
temtamy preaxial brachydactyly syndrome
|
[NCBI]
|
5.79591e-05
|
|
|
ABSD
|
[NCBI]
|
5.79591e-05
|
|
|
b-cell immunodeficiency, distal limb anomalies, and urogenital malformations
|
[NCBI]
|
5.79591e-05
|
|
|
piebald trait with neurologic defects
|
[NCBI]
|
5.79591e-05
|
|
|
ichthyosis, hystrix-like, with deafness
|
[NCBI]
|
5.79591e-05
|
|
|
mitochondrial myopathy with lactic acidosis
|
[NCBI]
|
5.79591e-05
|
|
|
dystonia, juvenile-onset
|
[NCBI]
|
5.79591e-05
|
|
|
DFNB49
|
[NCBI]
|
5.79591e-05
|
|
|
deafness, autosomal recessive
|
[NCBI]
|
5.79591e-05
|
|
|
myoclonus, cerebellar ataxia, and deafness
|
[NCBI]
|
5.79591e-05
|
|
|
neuropathy, hereditary sensory, atypical
|
[NCBI]
|
5.79591e-05
|
|
|
retinitis pigmentosa, deafness, mental retardation, and hypogonadism
|
[NCBI]
|
5.79591e-05
|
|
|
deafness, autosomal dominant nonsyndromic sensorineural, due to mutation in myo1a
|
[NCBI]
|
5.79591e-05
|
|
|
urticaria, familial localized heat
|
[NCBI]
|
5.79591e-05
|
|
|
camptodactyly, tall stature, and hearing loss syndrome
|
[NCBI]
|
5.79591e-05
|
|
|
triglyceride storage disease, type ii
|
[NCBI]
|
5.79591e-05
|
|
|
phocomelia-ectrodactyly, ear malformation, deafness, and sinus arrhythmia
|
[NCBI]
|
5.79591e-05
|
|
|
arthrogryposis-like hand anomaly and sensorineural deafness
|
[NCBI]
|
5.79591e-05
|
|
|
DFNB28
|
[NCBI]
|
5.79591e-05
|
|
|
deafness, congenital, with inner ear agenesis, microtia, and microdontia
|
[NCBI]
|
5.79591e-05
|
|
|
growth retardation, deafness, femoral epiphyseal dysplasia, and lacrimal duct obstruction
|
[NCBI]
|
5.79591e-05
|
|
|
THRA
|
[NCBI]
|
5.40677e-05
|
|
|
MTCO1
|
[NCBI]
|
5.29591e-05
|
|
|
EDN3
|
[NCBI]
|
5.19121e-05
|
|
|
EYA1
|
[NCBI]
|
5.09205e-05
|
|
|
COL2A1
|
[NCBI]
|
5.01971e-05
|
|
|
OPA1
|
[NCBI]
|
4.99787e-05
|
|
|
TCOF
|
[NCBI]
|
4.97624e-05
|
|
|
DFNB67
|
[NCBI]
|
4.95916e-05
|
|
|
urticaria, aquagenic
|
[NCBI]
|
4.95916e-05
|
|
|
emphysema, hereditary pulmonary
|
[NCBI]
|
4.95916e-05
|
|
|
ataxia-deafness-retardation syndrome
|
[NCBI]
|
4.95916e-05
|
|
|
charcot-marie-tooth disease, axonal, type 2i
|
[NCBI]
|
4.95916e-05
|
|
|
cochleosaccular degeneration of the inner ear with progressive cataracts
|
[NCBI]
|
4.95916e-05
|
|
|
carnevale syndrome
|
[NCBI]
|
4.95916e-05
|
|
|
FDD
|
[NCBI]
|
4.95916e-05
|
|
|
deafness, sensorineural, and male infertility
|
[NCBI]
|
4.95916e-05
|
|
|
hydrocephalus due to congenital stenosis of aqueduct of sylvius
|
[NCBI]
|
4.95916e-05
|
|
|
DDU
|
[NCBI]
|
4.95916e-05
|
|
|
meniere disease
|
[NCBI]
|
4.95916e-05
|
|
|
DSPP
|
[NCBI]
|
4.74092e-05
|
|
|
MHA
|
[NCBI]
|
4.68396e-05
|
|
|
OKS
|
[NCBI]
|
4.47507e-05
|
|
|
COL4A3
|
[NCBI]
|
4.4459e-05
|
|
|
SLC25A12
|
[NCBI]
|
4.42471e-05
|
|
|
FER1L3
|
[NCBI]
|
4.42471e-05
|
|
|
SCARB2
|
[NCBI]
|
4.42471e-05
|
|
|
MYO9A
|
[NCBI]
|
4.42471e-05
|
|
|
TMIE
|
[NCBI]
|
4.42471e-05
|
|
|
CACNA1D
|
[NCBI]
|
4.42471e-05
|
|
|
RPS6KA6
|
[NCBI]
|
4.42471e-05
|
|
|
OTOA
|
[NCBI]
|
4.42471e-05
|
|
|
NDUFV3
|
[NCBI]
|
4.42471e-05
|
|
|
kiaa1199
|
[NCBI]
|
4.42471e-05
|
|
|
TIMM8B
|
[NCBI]
|
4.42471e-05
|
|
|
TECTB
|
[NCBI]
|
4.42471e-05
|
|
|
NDUFB9
|
[NCBI]
|
4.42471e-05
|
|
|
TRIOBP
|
[NCBI]
|
4.42471e-05
|
|
|
DYNC2H1
|
[NCBI]
|
4.42471e-05
|
|
|
POLM
|
[NCBI]
|
4.42471e-05
|
|
|
MRX49
|
[NCBI]
|
4.42471e-05
|
|
|
TUFM
|
[NCBI]
|
4.42471e-05
|
|
|
MYO1A
|
[NCBI]
|
4.42471e-05
|
|
|
insulin-like growth factor i deficiency
|
[NCBI]
|
4.41979e-05
|
|
|
spastic ataxia
|
[NCBI]
|
4.41979e-05
|
|
|
hypogonadism, male
|
[NCBI]
|
4.41979e-05
|
|
|
PCWH
|
[NCBI]
|
4.41979e-05
|
|
|
FIDD
|
[NCBI]
|
4.41979e-05
|
|
|
retinitis pigmentosa-deafness syndrome
|
[NCBI]
|
4.41979e-05
|
|
|
oculopalatoskeletal syndrome
|
[NCBI]
|
4.41979e-05
|
|
|
HSCR1
|
[NCBI]
|
4.35859e-05
|
|
|
COL4A5
|
[NCBI]
|
4.25217e-05
|
|
|
SSS1
|
[NCBI]
|
4.02165e-05
|
|
|
hypophosphatemic rickets, autosomal recessive
|
[NCBI]
|
4.02165e-05
|
|
|
keratitis, hereditary
|
[NCBI]
|
4.02165e-05
|
|
|
malpuech facial clefting syndrome
|
[NCBI]
|
4.02165e-05
|
|
|
DFNA13
|
[NCBI]
|
4.02165e-05
|
|
|
progeroid short stature with pigmented nevi
|
[NCBI]
|
4.02165e-05
|
|
|
retinitis pigmentosa, x-linked, with recurrent respiratory infections
|
[NCBI]
|
4.02165e-05
|
|
|
spondyloperipheral dysplasia
|
[NCBI]
|
4.02165e-05
|
|
|
CMTX1
|
[NCBI]
|
3.93386e-05
|
|
|
LHFPL5
|
[NCBI]
|
3.90747e-05
|
|
|
SEMA3E
|
[NCBI]
|
3.90747e-05
|
|
|
RDX
|
[NCBI]
|
3.90747e-05
|
|
|
TBL1X
|
[NCBI]
|
3.90747e-05
|
|
|
solute carrier family 26 (anion transporter), member 6: slc26a6
|
[NCBI]
|
3.90747e-05
|
|
|
EVER2
|
[NCBI]
|
3.90747e-05
|
|
|
SPRY2
|
[NCBI]
|
3.90747e-05
|
|
|
SEDC
|
[NCBI]
|
3.85395e-05
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
3.85395e-05
|
|
|
NGFB
|
[NCBI]
|
3.84638e-05
|
|
|
EPO
|
[NCBI]
|
3.75067e-05
|
|
|
vohwinkel syndrome, variant form
|
[NCBI]
|
3.70671e-05
|
|
|
USH2C
|
[NCBI]
|
3.70671e-05
|
|
|
PWS
|
[NCBI]
|
3.66959e-05
|
|
|
FOXI1
|
[NCBI]
|
3.5726e-05
|
|
|
ATP6V1B1
|
[NCBI]
|
3.5726e-05
|
|
|
CATSPER2
|
[NCBI]
|
3.5726e-05
|
|
|
CLCNKA
|
[NCBI]
|
3.5726e-05
|
|
|
GFI1
|
[NCBI]
|
3.5726e-05
|
|
|
CAMK2G
|
[NCBI]
|
3.5726e-05
|
|
|
CHML
|
[NCBI]
|
3.5726e-05
|
|
|
NDST2
|
[NCBI]
|
3.5726e-05
|
|
|
EVER1
|
[NCBI]
|
3.5726e-05
|
|
|
MTTW
|
[NCBI]
|
3.32433e-05
|
|
|
PMX1
|
[NCBI]
|
3.32433e-05
|
|
|
CDAN1
|
[NCBI]
|
3.32433e-05
|
|
|
ACTB
|
[NCBI]
|
3.32433e-05
|
|
|
bsnd gene
|
[NCBI]
|
3.32433e-05
|
|
|
PDC
|
[NCBI]
|
3.32433e-05
|
|
|
DIAPH2
|
[NCBI]
|
3.32433e-05
|
|
|
short syndrome
|
[NCBI]
|
3.22581e-05
|
|
|
gaucher disease, type iiic
|
[NCBI]
|
3.22581e-05
|
|
|
GPR98
|
[NCBI]
|
3.12708e-05
|
|
|
CHD7
|
[NCBI]
|
3.12708e-05
|
|
|
KCNQ3
|
[NCBI]
|
3.12708e-05
|
|
|
EVR2
|
[NCBI]
|
3.03411e-05
|
|
|
CLCNKB
|
[NCBI]
|
2.96353e-05
|
|
|
USH3A
|
[NCBI]
|
2.96353e-05
|
|
|
PMP22
|
[NCBI]
|
2.92468e-05
|
|
|
GJA1
|
[NCBI]
|
2.92468e-05
|
|
|
growth-mental deficiency syndrome of myhre
|
[NCBI]
|
2.86508e-05
|
|
|
lenz-majewski hyperostotic dwarfism
|
[NCBI]
|
2.86508e-05
|
|
|
CMT4D
|
[NCBI]
|
2.86508e-05
|
|
|
lymphedema, hereditary, ii
|
[NCBI]
|
2.86508e-05
|
|
|
muenke syndrome
|
[NCBI]
|
2.86508e-05
|
|
|
TYR
|
[NCBI]
|
2.82412e-05
|
|
|
TUB
|
[NCBI]
|
2.82395e-05
|
|
|
PRPS1
|
[NCBI]
|
2.82395e-05
|
|
|
HOXA1
|
[NCBI]
|
2.82395e-05
|
|
|
CHM
|
[NCBI]
|
2.79439e-05
|
|
|
SBS
|
[NCBI]
|
2.71417e-05
|
|
|
SCAR1
|
[NCBI]
|
2.71417e-05
|
|
|
de sanctis-cacchione syndrome
|
[NCBI]
|
2.71417e-05
|
|
|
PLAU
|
[NCBI]
|
2.70227e-05
|
|
|
LTF
|
[NCBI]
|
2.70227e-05
|
|
|
LOR
|
[NCBI]
|
2.70227e-05
|
|
|
SHFM1
|
[NCBI]
|
2.65155e-05
|
|
|
C9
|
[NCBI]
|
2.5945e-05
|
|
|
DNAH11
|
[NCBI]
|
2.5945e-05
|
|
|
MTTI
|
[NCBI]
|
2.5945e-05
|
|
|
SLC25A13
|
[NCBI]
|
2.5945e-05
|
|
|
FGF3
|
[NCBI]
|
2.5945e-05
|
|
|
schwannomatosis
|
[NCBI]
|
2.57806e-05
|
|
|
AVP
|
[NCBI]
|
2.49847e-05
|
|
|
hyperprolinemia, type i
|
[NCBI]
|
2.45428e-05
|
|
|
disorganization, mouse, homolog of
|
[NCBI]
|
2.45428e-05
|
|
|
LADD
|
[NCBI]
|
2.45428e-05
|
|
|
GJB1
|
[NCBI]
|
2.42388e-05
|
|
|
mast cell disease
|
[NCBI]
|
2.34092e-05
|
|
|
multiple pterygium syndrome, escobar variant
|
[NCBI]
|
2.23649e-05
|
|
|
CDS
|
[NCBI]
|
2.23649e-05
|
|
|
tetralogy of fallot
|
[NCBI]
|
2.13981e-05
|
|
|
pituitary dwarfism iii
|
[NCBI]
|
2.13981e-05
|
|
|
SOX2
|
[NCBI]
|
2.12502e-05
|
|
|
LRP2
|
[NCBI]
|
2.12502e-05
|
|
|
MBP
|
[NCBI]
|
2.10459e-05
|
|
|
AHDS
|
[NCBI]
|
1.96594e-05
|
|
|
ED2
|
[NCBI]
|
1.96594e-05
|
|
|
SOST
|
[NCBI]
|
1.8134e-05
|
|
|
PAX2
|
[NCBI]
|
1.77482e-05
|
|
|
CMDD
|
[NCBI]
|
1.74378e-05
|
|
|
HEPOD
|
[NCBI]
|
1.74378e-05
|
|
|
CHM
|
[NCBI]
|
1.7345e-05
|
|
|
GRPR
|
[NCBI]
|
1.7345e-05
|
|
|
PITX2
|
[NCBI]
|
1.65911e-05
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
1.6562e-05
|
|
|
MNS
|
[NCBI]
|
1.61577e-05
|
|
|
EAOH
|
[NCBI]
|
1.61577e-05
|
|
|
BDNF
|
[NCBI]
|
1.53086e-05
|
|
|
refsum disease
|
[NCBI]
|
1.50064e-05
|
|
|
JAG1
|
[NCBI]
|
1.49565e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
1.49565e-05
|
|
|
DYSF
|
[NCBI]
|
1.49565e-05
|
|
|
ACHE
|
[NCBI]
|
1.44556e-05
|
|
|
IGF1
|
[NCBI]
|
1.43833e-05
|
|
|
TH
|
[NCBI]
|
1.4326e-05
|
|
|
GTS
|
[NCBI]
|
1.35101e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
1.33457e-05
|
|
|
SHOX
|
[NCBI]
|
1.33457e-05
|
|
|
ATRX
|
[NCBI]
|
1.26477e-05
|
|
|
RP1
|
[NCBI]
|
1.21429e-05
|
|
|
OPA1
|
[NCBI]
|
1.17345e-05
|
|
|
FHM1
|
[NCBI]
|
1.17345e-05
|
|
|
DMPK
|
[NCBI]
|
1.12295e-05
|
|
|
F2
|
[NCBI]
|
1.10471e-05
|
|
|
MSD
|
[NCBI]
|
1.09658e-05
|
|
|
FCAS
|
[NCBI]
|
1.02551e-05
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
1.02551e-05
|
|
|
FIH
|
[NCBI]
|
9.91937e-06
|
|
|
RPGR
|
[NCBI]
|
9.73246e-06
|
|
|
FGFR3
|
[NCBI]
|
8.56905e-06
|
|
|
TRPS2
|
[NCBI]
|
8.14009e-06
|
|
|
OCA1A
|
[NCBI]
|
8.14009e-06
|
|
|
ATS
|
[NCBI]
|
8.14009e-06
|
|
|
campomelic dysplasia
|
[NCBI]
|
8.14009e-06
|
|
|
FDH
|
[NCBI]
|
7.62395e-06
|
|
|
LWD
|
[NCBI]
|
7.14059e-06
|
|
|
COL1A2
|
[NCBI]
|
6.95505e-06
|
|
|
FGFR1
|
[NCBI]
|
6.30963e-06
|
|
|
GBA
|
[NCBI]
|
6.30963e-06
|
|
|
hypophosphatemic rickets, x-linked dominant
|
[NCBI]
|
6.26153e-06
|
|
|
MPZ
|
[NCBI]
|
6.05412e-06
|
|
|
DM2
|
[NCBI]
|
5.86125e-06
|
|
|
neuraminidase deficiency
|
[NCBI]
|
5.86125e-06
|
|
|
GUSB
|
[NCBI]
|
5.81003e-06
|
|
|
TNC
|
[NCBI]
|
5.65329e-06
|
|
|
CMT1B
|
[NCBI]
|
5.12964e-06
|
|
|
LKS
|
[NCBI]
|
4.47951e-06
|
|
|
NIDDM
|
[NCBI]
|
4.47951e-06
|
|
|
NF2
|
[NCBI]
|
4.03903e-06
|
|
|
bullous erythroderma ichthyosiformis congenita of brocq
|
[NCBI]
|
4.03903e-06
|
|
|
CLS
|
[NCBI]
|
3.90042e-06
|
|
|
CMT1A
|
[NCBI]
|
3.38383e-06
|
|
|
ALGS1
|
[NCBI]
|
3.26358e-06
|
|
|
AMH
|
[NCBI]
|
2.77099e-06
|
|
|
TG
|
[NCBI]
|
2.1219e-06
|
|
|
HBB
|
[NCBI]
|
2.06177e-06
|
|
|
SLOS
|
[NCBI]
|
1.88185e-06
|
|
|
PPARA
|
[NCBI]
|
1.44112e-06
|
|
|
WHS
|
[NCBI]
|
1.39257e-06
|
|
|
GDNF
|
[NCBI]
|
9.92177e-07
|
|
|
phenylketonuria
|
[NCBI]
|
7.60311e-07
|
|
|
APS1
|
[NCBI]
|
7.08313e-07
|
|
|
SMS
|
[NCBI]
|
6.27543e-07
|
|
|
DGS
|
[NCBI]
|
5.57117e-07
|
|
|
FRDA
|
[NCBI]
|
2.82066e-07
|
|
|
BWS
|
[NCBI]
|
1.89266e-07
|
|
|
TPO
|
[NCBI]
|
9.73857e-08
|
|
|
EV
|
[NCBI]
|
5.81003e-08
|
|
|
KSS
|
[NCBI]
|
4.92431e-08
|
|
|
NF1
|
[NCBI]
|
1.05923e-08
|
|
|
CNTF
|
[NCBI]
|
3.13503e-09
|
|