|
OMIM |
Link |
Information gain |
01 |
|
RA
|
[NCBI]
|
0.00377623
|
|
|
SLE
|
[NCBI]
|
0.00245379
|
|
|
arrhythmogenic right ventricular dysplasia, familial, 6
|
[NCBI]
|
0.00147621
|
|
|
CCA1
|
[NCBI]
|
0.00127799
|
|
|
HMN1
|
[NCBI]
|
0.00120842
|
|
|
holoprosencephaly
|
[NCBI]
|
0.00119417
|
|
|
SCA23
|
[NCBI]
|
0.000999951
|
|
|
BMND7
|
[NCBI]
|
0.000999951
|
|
|
CF
|
[NCBI]
|
0.000988973
|
|
|
cataract, autosomal recessive congenital 2
|
[NCBI]
|
0.000735752
|
|
|
cataract, central saccular, with sutural opacities
|
[NCBI]
|
0.000636665
|
|
|
migraine with or without aura, susceptibility to, 3
|
[NCBI]
|
0.000636665
|
|
|
cataract, autosomal recessive, early-onset, pulverulent
|
[NCBI]
|
0.000636665
|
|
|
migraine without aura, susceptibility to, 4
|
[NCBI]
|
0.000636665
|
|
|
bruck syndrome 1
|
[NCBI]
|
0.000636665
|
|
|
EXT3
|
[NCBI]
|
0.000572675
|
|
|
ALS5
|
[NCBI]
|
0.000572675
|
|
|
ALSFTD1
|
[NCBI]
|
0.000572675
|
|
|
ARVD5
|
[NCBI]
|
0.000572675
|
|
|
CTAA2
|
[NCBI]
|
0.000572675
|
|
|
peeling skin syndrome
|
[NCBI]
|
0.000572675
|
|
|
ARVD3
|
[NCBI]
|
0.000572675
|
|
|
CARASIL
|
[NCBI]
|
0.000572675
|
|
|
ARVD4
|
[NCBI]
|
0.000572675
|
|
|
CTPP1
|
[NCBI]
|
0.000525354
|
|
|
cerebral palsy, ataxic, autosomal recessive
|
[NCBI]
|
0.000525354
|
|
|
CTAA1
|
[NCBI]
|
0.000525354
|
|
|
ETM2
|
[NCBI]
|
0.000525354
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal dominant
|
[NCBI]
|
0.000525354
|
|
|
convulsions, benign familial infantile, 1
|
[NCBI]
|
0.000525354
|
|
|
CHED1
|
[NCBI]
|
0.00048785
|
|
|
inclusion body myositis
|
[NCBI]
|
0.000456834
|
|
|
SHFM2
|
[NCBI]
|
0.000456834
|
|
|
MYMY1
|
[NCBI]
|
0.000456834
|
|
|
robinow syndrome, autosomal dominant
|
[NCBI]
|
0.000430428
|
|
|
prostate cancer, hereditary, 8
|
[NCBI]
|
0.000430428
|
|
|
TNF
|
[NCBI]
|
0.000408647
|
|
|
EEC3
|
[NCBI]
|
0.000405629
|
|
|
VEGF
|
[NCBI]
|
0.000388823
|
|
|
HPCX
|
[NCBI]
|
0.000387188
|
|
|
autism
|
[NCBI]
|
0.00037411
|
|
|
pygmy
|
[NCBI]
|
0.000369043
|
|
|
IBD5
|
[NCBI]
|
0.000369043
|
|
|
EGF
|
[NCBI]
|
0.000362919
|
|
|
SMEI
|
[NCBI]
|
0.000357954
|
|
|
scott syndrome
|
[NCBI]
|
0.000337704
|
|
|
CBBM
|
[NCBI]
|
0.000337704
|
|
|
SCA14
|
[NCBI]
|
0.000328248
|
|
|
MODY
|
[NCBI]
|
0.000301211
|
|
|
adult syndrome
|
[NCBI]
|
0.000301089
|
|
|
IGAD1
|
[NCBI]
|
0.000299591
|
|
|
GPS
|
[NCBI]
|
0.000288646
|
|
|
LMNA
|
[NCBI]
|
0.000282751
|
|
|
LMS
|
[NCBI]
|
0.000279351
|
|
|
SHFM3
|
[NCBI]
|
0.000278405
|
|
|
NGFB
|
[NCBI]
|
0.000270154
|
|
|
aneurysm, intracranial berry, 1
|
[NCBI]
|
0.000268791
|
|
|
NLS
|
[NCBI]
|
0.000268791
|
|
|
VUR1
|
[NCBI]
|
0.000259738
|
|
|
AD
|
[NCBI]
|
0.000252289
|
|
|
DFNB67
|
[NCBI]
|
0.000239036
|
|
|
CCD
|
[NCBI]
|
0.000234272
|
|
|
NS1
|
[NCBI]
|
0.000226862
|
|
|
myasthenic syndrome, congenital, fast-channel
|
[NCBI]
|
0.000224107
|
|
|
porphyria variegata
|
[NCBI]
|
0.000222962
|
|
|
migraine with or without aura, susceptibility to, 1
|
[NCBI]
|
0.000221164
|
|
|
LGMD2I
|
[NCBI]
|
0.000219062
|
|
|
PRL
|
[NCBI]
|
0.000216856
|
|
|
CRC
|
[NCBI]
|
0.000215921
|
|
|
IBM3
|
[NCBI]
|
0.000209162
|
|
|
MDC1C
|
[NCBI]
|
0.000209162
|
|
|
dyschromatosis symmetrica hereditaria 1
|
[NCBI]
|
0.000204368
|
|
|
GJB2
|
[NCBI]
|
0.000204359
|
|
|
thrombocytopenic purpura, autoimmune
|
[NCBI]
|
0.000192994
|
|
|
CACNA1A
|
[NCBI]
|
0.000192961
|
|
|
FHM2
|
[NCBI]
|
0.00019031
|
|
|
SPS
|
[NCBI]
|
0.000185379
|
|
|
giant platelet syndrome
|
[NCBI]
|
0.000185231
|
|
|
NPY
|
[NCBI]
|
0.000183233
|
|
|
APL
|
[NCBI]
|
0.00017359
|
|
|
lymphoma, non-hodgkin, familial
|
[NCBI]
|
0.000172168
|
|
|
EVA
|
[NCBI]
|
0.000171355
|
|
|
PTH
|
[NCBI]
|
0.000169467
|
|
|
SCN5A
|
[NCBI]
|
0.000168831
|
|
|
DFNA6
|
[NCBI]
|
0.000168743
|
|
|
RHS
|
[NCBI]
|
0.000168743
|
|
|
EKV
|
[NCBI]
|
0.000164006
|
|
|
bullous erythroderma ichthyosiformis congenita of brocq
|
[NCBI]
|
0.000163367
|
|
|
PPR
|
[NCBI]
|
0.000161444
|
|
|
PTPN11
|
[NCBI]
|
0.000161411
|
|
|
ARMD3
|
[NCBI]
|
0.000159343
|
|
|
carney complex variant
|
[NCBI]
|
0.000159343
|
|
|
NS5
|
[NCBI]
|
0.000159343
|
|
|
cardiomyopathy, dilated, with quadriceps myopathy
|
[NCBI]
|
0.000159343
|
|
|
epilepsy, myoclonic, x-linked, with mental retardation and spasticity
|
[NCBI]
|
0.000159343
|
|
|
PDS
|
[NCBI]
|
0.000158238
|
|
|
HFTC
|
[NCBI]
|
0.000154722
|
|
|
SHFM1
|
[NCBI]
|
0.000153003
|
|
|
succinic semialdehyde dehydrogenase deficiency
|
[NCBI]
|
0.00014863
|
|
|
MTS
|
[NCBI]
|
0.00014863
|
|
|
LGMD1C
|
[NCBI]
|
0.000144778
|
|
|
CPVT
|
[NCBI]
|
0.000144778
|
|
|
SQT1
|
[NCBI]
|
0.000144778
|
|
|
short stature, idiopathic, autosomal
|
[NCBI]
|
0.000144778
|
|
|
deafness, congenital, with keratopachydermia and constrictions of fingers and toes
|
[NCBI]
|
0.000144778
|
|
|
ND
|
[NCBI]
|
0.000136852
|
|
|
myopathy, myosin storage
|
[NCBI]
|
0.000134896
|
|
|
SANDO
|
[NCBI]
|
0.000134896
|
|
|
PGL4
|
[NCBI]
|
0.000134896
|
|
|
LADD
|
[NCBI]
|
0.000134896
|
|
|
FPLD2
|
[NCBI]
|
0.000133906
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
0.000133017
|
|
|
RTT
|
[NCBI]
|
0.000130832
|
|
|
GEFS+
|
[NCBI]
|
0.000128513
|
|
|
ATP1A2
|
[NCBI]
|
0.000128414
|
|
|
LGMD2A
|
[NCBI]
|
0.000127852
|
|
|
fabry disease
|
[NCBI]
|
0.00012781
|
|
|
SLOS
|
[NCBI]
|
0.000127494
|
|
|
TH
|
[NCBI]
|
0.00012678
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 2
|
[NCBI]
|
0.000126537
|
|
|
SPG10
|
[NCBI]
|
0.000126537
|
|
|
USH2A
|
[NCBI]
|
0.000125427
|
|
|
MFS
|
[NCBI]
|
0.00012285
|
|
|
FHM3
|
[NCBI]
|
0.000121465
|
|
|
ALS8
|
[NCBI]
|
0.000121465
|
|
|
hypothyroidism, athyroidal, with spiky hair and cleft palate
|
[NCBI]
|
0.000121465
|
|
|
EDMD3
|
[NCBI]
|
0.000121465
|
|
|
preaxial deficiency, postaxial polydactyly, and hypospadias
|
[NCBI]
|
0.000121465
|
|
|
charcot-marie-tooth disease, axonal, type 2f
|
[NCBI]
|
0.000121465
|
|
|
HJMD
|
[NCBI]
|
0.000121465
|
|
|
advanced sleep-phase syndrome, familial
|
[NCBI]
|
0.000121465
|
|
|
MAPT
|
[NCBI]
|
0.000121403
|
|
|
KCNQ1
|
[NCBI]
|
0.000120424
|
|
|
CJD
|
[NCBI]
|
0.000120165
|
|
|
PRKCG
|
[NCBI]
|
0.000120058
|
|
|
sialuria
|
[NCBI]
|
0.000119302
|
|
|
HFE4
|
[NCBI]
|
0.000119302
|
|
|
lymphedema, hereditary, i
|
[NCBI]
|
0.000119302
|
|
|
ankyloblepharon-ectodermal defects-cleft lip/palate
|
[NCBI]
|
0.000119302
|
|
|
keratitis-ichthyosis-deafness syndrome, autosomal dominant
|
[NCBI]
|
0.000119302
|
|
|
POLG
|
[NCBI]
|
0.000119235
|
|
|
VWS
|
[NCBI]
|
0.000118952
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
0.000116573
|
|
|
thrombasthenia of glanzmann and naegeli
|
[NCBI]
|
0.000112923
|
|
|
myopathy, myofibrillar, desmin-related
|
[NCBI]
|
0.000109668
|
|
|
RMD
|
[NCBI]
|
0.000109668
|
|
|
FLNA
|
[NCBI]
|
0.000109171
|
|
|
SLC26A4
|
[NCBI]
|
0.000108388
|
|
|
EPO
|
[NCBI]
|
0.000108198
|
|
|
MECP2
|
[NCBI]
|
0.000107665
|
|
|
CMT4A
|
[NCBI]
|
0.00010725
|
|
|
SEDC
|
[NCBI]
|
0.000106475
|
|
|
central core disease of muscle
|
[NCBI]
|
0.000106475
|
|
|
ACHE
|
[NCBI]
|
0.000105696
|
|
|
SCN1A
|
[NCBI]
|
0.000105542
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
0.000105308
|
|
|
MLASA
|
[NCBI]
|
0.000104553
|
|
|
charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive
|
[NCBI]
|
0.000104553
|
|
|
HHF3
|
[NCBI]
|
0.000104553
|
|
|
TS
|
[NCBI]
|
0.000104553
|
|
|
DFNB59
|
[NCBI]
|
0.000104553
|
|
|
martsolf syndrome
|
[NCBI]
|
0.000104553
|
|
|
SLC22A5
|
[NCBI]
|
0.000103848
|
|
|
RP
|
[NCBI]
|
0.000102941
|
|
|
NM
|
[NCBI]
|
0.000102126
|
|
|
wolff-parkinson-white syndrome
|
[NCBI]
|
0.000102126
|
|
|
CMT2A1
|
[NCBI]
|
0.000102126
|
|
|
papillorenal syndrome
|
[NCBI]
|
0.000102126
|
|
|
cutis laxa, autosomal recessive, type i
|
[NCBI]
|
0.000102126
|
|
|
ALS2
|
[NCBI]
|
0.000102126
|
|
|
OPPG
|
[NCBI]
|
0.000102126
|
|
|
FHM1
|
[NCBI]
|
0.000100534
|
|
|
HGF
|
[NCBI]
|
0.000100325
|
|
|
TP73L
|
[NCBI]
|
9.9168e-05
|
|
|
myoclonic epilepsy of lafora
|
[NCBI]
|
9.77629e-05
|
|
|
KCNJ11
|
[NCBI]
|
9.7726e-05
|
|
|
CAV3
|
[NCBI]
|
9.7726e-05
|
|
|
AFP
|
[NCBI]
|
9.77e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive
|
[NCBI]
|
9.74671e-05
|
|
|
PNDM
|
[NCBI]
|
9.74671e-05
|
|
|
erythrocytosis, familial, 2
|
[NCBI]
|
9.74671e-05
|
|
|
BDNF
|
[NCBI]
|
9.70302e-05
|
|
|
MBP
|
[NCBI]
|
9.48223e-05
|
|
|
progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant, 1
|
[NCBI]
|
9.31993e-05
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
9.31993e-05
|
|
|
NEM1
|
[NCBI]
|
9.3062e-05
|
|
|
CTPP3
|
[NCBI]
|
9.3062e-05
|
|
|
HFE
|
[NCBI]
|
9.18441e-05
|
|
|
BCPM
|
[NCBI]
|
9.01317e-05
|
|
|
MYH7
|
[NCBI]
|
8.95408e-05
|
|
|
alexander disease
|
[NCBI]
|
8.92665e-05
|
|
|
PRKAG2
|
[NCBI]
|
8.91697e-05
|
|
|
WFS1
|
[NCBI]
|
8.90048e-05
|
|
|
panencephalitis, subacute sclerosing
|
[NCBI]
|
8.86856e-05
|
|
|
AIS
|
[NCBI]
|
8.86226e-05
|
|
|
JAG1
|
[NCBI]
|
8.78087e-05
|
|
|
periodic fever, familial, autosomal dominant
|
[NCBI]
|
8.77891e-05
|
|
|
FKRP
|
[NCBI]
|
8.58438e-05
|
|
|
EVR1
|
[NCBI]
|
8.56233e-05
|
|
|
CMD1E
|
[NCBI]
|
8.43446e-05
|
|
|
LGMD2F
|
[NCBI]
|
8.43446e-05
|
|
|
keratoderma, palmoplantar, with deafness
|
[NCBI]
|
8.43446e-05
|
|
|
adenylosuccinase deficiency
|
[NCBI]
|
8.43446e-05
|
|
|
HOA
|
[NCBI]
|
8.43446e-05
|
|
|
cataract, lamellar
|
[NCBI]
|
8.43446e-05
|
|
|
charcot-marie-tooth disease, axonal, type 2j
|
[NCBI]
|
8.43446e-05
|
|
|
DFNA20
|
[NCBI]
|
8.43446e-05
|
|
|
LHFPL5
|
[NCBI]
|
8.4156e-05
|
|
|
SPG4
|
[NCBI]
|
8.33669e-05
|
|
|
BRAF
|
[NCBI]
|
8.27147e-05
|
|
|
GLA
|
[NCBI]
|
8.27147e-05
|
|
|
leopard syndrome 1
|
[NCBI]
|
8.22331e-05
|
|
|
SDHB
|
[NCBI]
|
8.17401e-05
|
|
|
MM
|
[NCBI]
|
8.12763e-05
|
|
|
FGFR3
|
[NCBI]
|
8.03209e-05
|
|
|
PRSS1
|
[NCBI]
|
8.03059e-05
|
|
|
immotile cilia syndrome due to excessively long cilia
|
[NCBI]
|
7.96642e-05
|
|
|
ASD4
|
[NCBI]
|
7.96642e-05
|
|
|
ichthyosis, hystrix-like, with deafness
|
[NCBI]
|
7.96642e-05
|
|
|
HMN2B
|
[NCBI]
|
7.96642e-05
|
|
|
leopard syndrome 2
|
[NCBI]
|
7.96642e-05
|
|
|
COFS2
|
[NCBI]
|
7.96642e-05
|
|
|
hypodontia, x-linked
|
[NCBI]
|
7.96642e-05
|
|
|
ARB
|
[NCBI]
|
7.96642e-05
|
|
|
CORD10
|
[NCBI]
|
7.96642e-05
|
|
|
CMD1M
|
[NCBI]
|
7.96642e-05
|
|
|
arthropathy, tendinous calcinosis, and progeroid features
|
[NCBI]
|
7.96642e-05
|
|
|
ATFB4
|
[NCBI]
|
7.96642e-05
|
|
|
epilepsy, nocturnal frontal lobe, type 4
|
[NCBI]
|
7.96642e-05
|
|
|
furlong syndrome: fs
|
[NCBI]
|
7.96642e-05
|
|
|
CMD1I
|
[NCBI]
|
7.96642e-05
|
|
|
CMD1N
|
[NCBI]
|
7.96642e-05
|
|
|
hepatic adenomas, familial
|
[NCBI]
|
7.96642e-05
|
|
|
NPHS3
|
[NCBI]
|
7.96642e-05
|
|
|
van buchem disease, type 2
|
[NCBI]
|
7.96642e-05
|
|
|
RDC
|
[NCBI]
|
7.96642e-05
|
|
|
CSNB2B
|
[NCBI]
|
7.96642e-05
|
|
|
CDG2B
|
[NCBI]
|
7.96642e-05
|
|
|
DMGDHD
|
[NCBI]
|
7.96642e-05
|
|
|
skin fragility-woolly hair syndrome
|
[NCBI]
|
7.96642e-05
|
|
|
diarrhea 4, malabsorptive, congenital
|
[NCBI]
|
7.96642e-05
|
|
|
MCOPCB5
|
[NCBI]
|
7.96642e-05
|
|
|
ADCAD2
|
[NCBI]
|
7.96642e-05
|
|
|
retinitis pigmentosa 37
|
[NCBI]
|
7.96642e-05
|
|
|
charcot-marie-tooth disease, demyelinating, type 1f
|
[NCBI]
|
7.96642e-05
|
|
|
caroli disease, isolated
|
[NCBI]
|
7.96642e-05
|
|
|
thyroid hormone metabolism, abnormal
|
[NCBI]
|
7.96642e-05
|
|
|
cd8 deficiency, familial
|
[NCBI]
|
7.96642e-05
|
|
|
hypotrichosis-lymphedema-telangiectasia syndrome
|
[NCBI]
|
7.96642e-05
|
|
|
DFNB23
|
[NCBI]
|
7.96642e-05
|
|
|
phosphoserine aminotransferase deficiency
|
[NCBI]
|
7.96642e-05
|
|
|
ectopia pupillae
|
[NCBI]
|
7.96642e-05
|
|
|
NEM4
|
[NCBI]
|
7.96642e-05
|
|
|
RP35
|
[NCBI]
|
7.96642e-05
|
|
|
ectrodactyly-cleft palate syndrome
|
[NCBI]
|
7.96642e-05
|
|
|
ATFB3
|
[NCBI]
|
7.96642e-05
|
|
|
ELAC2
|
[NCBI]
|
7.96447e-05
|
|
|
TMPRSS3
|
[NCBI]
|
7.94368e-05
|
|
|
IBM2
|
[NCBI]
|
7.90661e-05
|
|
|
ESCS
|
[NCBI]
|
7.90661e-05
|
|
|
PRF1
|
[NCBI]
|
7.73997e-05
|
|
|
CCA2
|
[NCBI]
|
7.73347e-05
|
|
|
hand-foot-uterus syndrome
|
[NCBI]
|
7.73347e-05
|
|
|
PC1
|
[NCBI]
|
7.73347e-05
|
|
|
HNSCC
|
[NCBI]
|
7.73347e-05
|
|
|
cardiomyopathy, familial hypertrophic, with wolff-parkinson-white syndrome
|
[NCBI]
|
7.73347e-05
|
|
|
CZP3
|
[NCBI]
|
7.73347e-05
|
|
|
FHL2
|
[NCBI]
|
7.73347e-05
|
|
|
ORW2
|
[NCBI]
|
7.6097e-05
|
|
|
TBCE
|
[NCBI]
|
7.56977e-05
|
|
|
PPOX
|
[NCBI]
|
7.34389e-05
|
|
|
SPG4
|
[NCBI]
|
7.34389e-05
|
|
|
EDMD2
|
[NCBI]
|
7.3305e-05
|
|
|
DHCR7
|
[NCBI]
|
7.25539e-05
|
|
|
PXE
|
[NCBI]
|
7.24113e-05
|
|
|
NPPA
|
[NCBI]
|
7.18327e-05
|
|
|
CDG1B
|
[NCBI]
|
7.1487e-05
|
|
|
de sanctis-cacchione syndrome
|
[NCBI]
|
7.1487e-05
|
|
|
ODG2
|
[NCBI]
|
7.1487e-05
|
|
|
IBMPFD
|
[NCBI]
|
7.1487e-05
|
|
|
cryptorchidism, unilateral or bilateral
|
[NCBI]
|
7.1487e-05
|
|
|
FBN1
|
[NCBI]
|
7.03898e-05
|
|
|
CDSP
|
[NCBI]
|
7.01459e-05
|
|
|
KCNH2
|
[NCBI]
|
6.9678e-05
|
|
|
DKC1
|
[NCBI]
|
6.95902e-05
|
|
|
ZS
|
[NCBI]
|
6.93303e-05
|
|
|
USH2A
|
[NCBI]
|
6.81834e-05
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
6.81834e-05
|
|
|
DES
|
[NCBI]
|
6.77822e-05
|
|
|
KRT17
|
[NCBI]
|
6.71987e-05
|
|
|
DNM2
|
[NCBI]
|
6.71987e-05
|
|
|
VMD
|
[NCBI]
|
6.68919e-05
|
|
|
DFNA3
|
[NCBI]
|
6.64831e-05
|
|
|
HFE3
|
[NCBI]
|
6.64831e-05
|
|
|
gitelman syndrome
|
[NCBI]
|
6.64831e-05
|
|
|
SBS
|
[NCBI]
|
6.64831e-05
|
|
|
HHF6
|
[NCBI]
|
6.64831e-05
|
|
|
BRCA1
|
[NCBI]
|
6.62351e-05
|
|
|
andersen cardiodysrhythmic periodic paralysis
|
[NCBI]
|
6.58254e-05
|
|
|
LRP5
|
[NCBI]
|
6.56701e-05
|
|
|
EGR2
|
[NCBI]
|
6.56701e-05
|
|
|
MPZ
|
[NCBI]
|
6.53444e-05
|
|
|
FMF
|
[NCBI]
|
6.49368e-05
|
|
|
ENG
|
[NCBI]
|
6.45044e-05
|
|
|
BCNS
|
[NCBI]
|
6.36338e-05
|
|
|
MHA
|
[NCBI]
|
6.35868e-05
|
|
|
L1CAM
|
[NCBI]
|
6.22536e-05
|
|
|
CTSC
|
[NCBI]
|
6.22536e-05
|
|
|
GJA8
|
[NCBI]
|
6.22444e-05
|
|
|
PSACH
|
[NCBI]
|
6.21815e-05
|
|
|
MC4R
|
[NCBI]
|
6.21625e-05
|
|
|
NETH
|
[NCBI]
|
6.21205e-05
|
|
|
hyperostosis corticalis generalisata
|
[NCBI]
|
6.21205e-05
|
|
|
spondyloepimetaphyseal dysplasia, strudwick type
|
[NCBI]
|
6.21205e-05
|
|
|
muenke syndrome
|
[NCBI]
|
6.21205e-05
|
|
|
ARX
|
[NCBI]
|
6.11929e-05
|
|
|
KRT14
|
[NCBI]
|
6.11929e-05
|
|
|
EPM2A
|
[NCBI]
|
6.10494e-05
|
|
|
FGF23
|
[NCBI]
|
6.08392e-05
|
|
|
PAX6
|
[NCBI]
|
6.05859e-05
|
|
|
RYR2
|
[NCBI]
|
6.0181e-05
|
|
|
RHO
|
[NCBI]
|
5.97858e-05
|
|
|
KIF5A
|
[NCBI]
|
5.95736e-05
|
|
|
KCNE2
|
[NCBI]
|
5.95736e-05
|
|
|
CHST6
|
[NCBI]
|
5.95736e-05
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
5.95566e-05
|
|
|
VHL
|
[NCBI]
|
5.90171e-05
|
|
|
LGMD1A
|
[NCBI]
|
5.82619e-05
|
|
|
scheie syndrome
|
[NCBI]
|
5.82619e-05
|
|
|
CMT2A2
|
[NCBI]
|
5.82619e-05
|
|
|
AVP
|
[NCBI]
|
5.7967e-05
|
|
|
IRF6
|
[NCBI]
|
5.77273e-05
|
|
|
BEST1
|
[NCBI]
|
5.77273e-05
|
|
|
MTND5
|
[NCBI]
|
5.73572e-05
|
|
|
FBLN5
|
[NCBI]
|
5.59297e-05
|
|
|
KCNE3
|
[NCBI]
|
5.59297e-05
|
|
|
NHLRC1
|
[NCBI]
|
5.59297e-05
|
|
|
ATP2C1
|
[NCBI]
|
5.59297e-05
|
|
|
PTEN
|
[NCBI]
|
5.53756e-05
|
|
|
VHL
|
[NCBI]
|
5.53615e-05
|
|
|
ACTA1
|
[NCBI]
|
5.48399e-05
|
|
|
MRXS13
|
[NCBI]
|
5.48102e-05
|
|
|
SACS
|
[NCBI]
|
5.48102e-05
|
|
|
HHS
|
[NCBI]
|
5.48102e-05
|
|
|
LIS1
|
[NCBI]
|
5.48102e-05
|
|
|
MPO
|
[NCBI]
|
5.41598e-05
|
|
|
ABCC6
|
[NCBI]
|
5.40083e-05
|
|
|
GBA
|
[NCBI]
|
5.3648e-05
|
|
|
DHFR
|
[NCBI]
|
5.30021e-05
|
|
|
SLC39A4
|
[NCBI]
|
5.29362e-05
|
|
|
NEU1
|
[NCBI]
|
5.22889e-05
|
|
|
WFS2
|
[NCBI]
|
5.22695e-05
|
|
|
spondyloepimetaphyseal dysplasia, x-linked
|
[NCBI]
|
5.22695e-05
|
|
|
pyridoxamine 5-prime-phosphate oxidase deficiency
|
[NCBI]
|
5.22695e-05
|
|
|
bruck syndrome 2
|
[NCBI]
|
5.22695e-05
|
|
|
peeling skin syndrome, acral type
|
[NCBI]
|
5.22695e-05
|
|
|
MCOP3
|
[NCBI]
|
5.22695e-05
|
|
|
cahmr syndrome
|
[NCBI]
|
5.22695e-05
|
|
|
diabetes mellitus, transient neonatal, 2
|
[NCBI]
|
5.22695e-05
|
|
|
glycine n-methyltransferase deficiency
|
[NCBI]
|
5.22695e-05
|
|
|
ectrodactyly and ectodermal dysplasia without cleft lip/palate
|
[NCBI]
|
5.22695e-05
|
|
|
hyperthyroidism, familial gestational
|
[NCBI]
|
5.22695e-05
|
|
|
BOR2
|
[NCBI]
|
5.22695e-05
|
|
|
SQT3
|
[NCBI]
|
5.22695e-05
|
|
|
ASD2
|
[NCBI]
|
5.22695e-05
|
|
|
pilomatrixoma
|
[NCBI]
|
5.22695e-05
|
|
|
scapuloperoneal myopathy, x-linked dominant
|
[NCBI]
|
5.22695e-05
|
|
|
hypoplastic left heart syndrome
|
[NCBI]
|
5.22695e-05
|
|
|
cardiomyopathy, infantile histiocytoid
|
[NCBI]
|
5.22695e-05
|
|
|
VUR2
|
[NCBI]
|
5.22695e-05
|
|
|
amyloidosis, cerebroarterial, hereditary, iowa type
|
[NCBI]
|
5.22695e-05
|
|
|
glycogen storage disease of heart, lethal congenital
|
[NCBI]
|
5.22695e-05
|
|
|
methylmalonyl-coa epimerase deficiency
|
[NCBI]
|
5.22695e-05
|
|
|
uric acid nephrolithiasis, susceptibility to
|
[NCBI]
|
5.22695e-05
|
|
|
autism, x-linked, susceptibility to, 3
|
[NCBI]
|
5.22695e-05
|
|
|
corpus callosum, agenesis of, with abnormal genitalia
|
[NCBI]
|
5.22695e-05
|
|
|
GS3
|
[NCBI]
|
5.22695e-05
|
|
|
dystonia, juvenile-onset
|
[NCBI]
|
5.22695e-05
|
|
|
SQT2
|
[NCBI]
|
5.22695e-05
|
|
|
LIS3
|
[NCBI]
|
5.22695e-05
|
|
|
TCC
|
[NCBI]
|
5.22695e-05
|
|
|
diabetes mellitus, transient neonatal, 3
|
[NCBI]
|
5.22695e-05
|
|
|
CDG1H
|
[NCBI]
|
5.22695e-05
|
|
|
PPCD2
|
[NCBI]
|
5.22695e-05
|
|
|
cholestasis, benign recurrent intrahepatic 2
|
[NCBI]
|
5.22695e-05
|
|
|
SCRA
|
[NCBI]
|
5.22695e-05
|
|
|
SCDO3
|
[NCBI]
|
5.22695e-05
|
|
|
c-like syndrome
|
[NCBI]
|
5.22695e-05
|
|
|
CCA3
|
[NCBI]
|
5.22695e-05
|
|
|
XMPMA
|
[NCBI]
|
5.22695e-05
|
|
|
ichthyosis, cyclic, with epidermolytic hyperkeratosis
|
[NCBI]
|
5.22695e-05
|
|
|
CMT1D
|
[NCBI]
|
5.22695e-05
|
|
|
bothnia retinal dystrophy
|
[NCBI]
|
5.22695e-05
|
|
|
DSMA4
|
[NCBI]
|
5.22695e-05
|
|
|
optic atrophy 3, autosomal dominant
|
[NCBI]
|
5.22695e-05
|
|
|
heterotopia, periventricular, ehlers-danlos variant
|
[NCBI]
|
5.22695e-05
|
|
|
HMN7B
|
[NCBI]
|
5.22695e-05
|
|
|
spondyloepimetaphyseal dysplasia, type ii
|
[NCBI]
|
5.22695e-05
|
|
|
knuckle pads, leukonychia, and sensorineural deafness
|
[NCBI]
|
5.22695e-05
|
|
|
neutropenia, nonimmune chronic idiopathic, of adults
|
[NCBI]
|
5.22695e-05
|
|
|
charcot-marie-tooth disease, axonal, type 2l
|
[NCBI]
|
5.22695e-05
|
|
|
OPD1
|
[NCBI]
|
5.16938e-05
|
|
|
bartter syndrome, antenatal, type 2
|
[NCBI]
|
5.16938e-05
|
|
|
DSMA1
|
[NCBI]
|
5.16938e-05
|
|
|
LDS
|
[NCBI]
|
5.16938e-05
|
|
|
pick disease of brain
|
[NCBI]
|
5.16938e-05
|
|
|
monilethrix
|
[NCBI]
|
5.16938e-05
|
|
|
FTNS
|
[NCBI]
|
5.16938e-05
|
|
|
BMND1
|
[NCBI]
|
5.16938e-05
|
|
|
AEZ
|
[NCBI]
|
5.16938e-05
|
|
|
ED2
|
[NCBI]
|
5.16938e-05
|
|
|
GJB6
|
[NCBI]
|
5.11174e-05
|
|
|
ATP7B
|
[NCBI]
|
5.10414e-05
|
|
|
cystinuria
|
[NCBI]
|
5.05508e-05
|
|
|
CASQ2
|
[NCBI]
|
5.03951e-05
|
|
|
costello syndrome
|
[NCBI]
|
4.8989e-05
|
|
|
SDHD
|
[NCBI]
|
4.89493e-05
|
|
|
APTX
|
[NCBI]
|
4.89493e-05
|
|
|
JAK2
|
[NCBI]
|
4.89168e-05
|
|
|
EA1
|
[NCBI]
|
4.88586e-05
|
|
|
NFNS
|
[NCBI]
|
4.88586e-05
|
|
|
coenzyme q10 deficiency
|
[NCBI]
|
4.88586e-05
|
|
|
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
|
[NCBI]
|
4.88586e-05
|
|
|
tetralogy of fallot
|
[NCBI]
|
4.88586e-05
|
|
|
HMN5
|
[NCBI]
|
4.88586e-05
|
|
|
LGMD1B
|
[NCBI]
|
4.88586e-05
|
|
|
TRPS1
|
[NCBI]
|
4.81877e-05
|
|
|
FZD4
|
[NCBI]
|
4.81877e-05
|
|
|
SETX
|
[NCBI]
|
4.81877e-05
|
|
|
CNGB3
|
[NCBI]
|
4.81877e-05
|
|
|
TGFBI
|
[NCBI]
|
4.79422e-05
|
|
|
PMM2
|
[NCBI]
|
4.79422e-05
|
|
|
CRYAA
|
[NCBI]
|
4.79422e-05
|
|
|
GFAP
|
[NCBI]
|
4.75699e-05
|
|
|
CMD1A
|
[NCBI]
|
4.7488e-05
|
|
|
myoclonic dystonia
|
[NCBI]
|
4.7488e-05
|
|
|
PD
|
[NCBI]
|
4.73443e-05
|
|
|
MAFD6
|
[NCBI]
|
4.70385e-05
|
|
|
NKX2E
|
[NCBI]
|
4.69804e-05
|
|
|
ABCA1
|
[NCBI]
|
4.65568e-05
|
|
|
MLH1
|
[NCBI]
|
4.63376e-05
|
|
|
ADLTE
|
[NCBI]
|
4.62626e-05
|
|
|
PALS
|
[NCBI]
|
4.62626e-05
|
|
|
CFTD
|
[NCBI]
|
4.62626e-05
|
|
|
JH
|
[NCBI]
|
4.62626e-05
|
|
|
PPCD1
|
[NCBI]
|
4.62626e-05
|
|
|
danon disease
|
[NCBI]
|
4.62626e-05
|
|
|
LGMD2B
|
[NCBI]
|
4.62626e-05
|
|
|
SOST
|
[NCBI]
|
4.62626e-05
|
|
|
KRT16
|
[NCBI]
|
4.62373e-05
|
|
|
PEX1
|
[NCBI]
|
4.62373e-05
|
|
|
HOXA13
|
[NCBI]
|
4.62373e-05
|
|
|
MTM1
|
[NCBI]
|
4.60602e-05
|
|
|
FCAS
|
[NCBI]
|
4.60441e-05
|
|
|
CDPX2
|
[NCBI]
|
4.60441e-05
|
|
|
PCTT
|
[NCBI]
|
4.60441e-05
|
|
|
FIH
|
[NCBI]
|
4.46538e-05
|
|
|
SLC7A9
|
[NCBI]
|
4.44908e-05
|
|
|
KCNQ4
|
[NCBI]
|
4.44908e-05
|
|
|
TNNT2
|
[NCBI]
|
4.43321e-05
|
|
|
TTP
|
[NCBI]
|
4.38727e-05
|
|
|
hurler-scheie syndrome
|
[NCBI]
|
4.38727e-05
|
|
|
PARK6
|
[NCBI]
|
4.38727e-05
|
|
|
GCE
|
[NCBI]
|
4.38727e-05
|
|
|
NBIA1
|
[NCBI]
|
4.38727e-05
|
|
|
SLC25A4
|
[NCBI]
|
4.35186e-05
|
|
|
CDG1A
|
[NCBI]
|
4.33142e-05
|
|
|
MATN3
|
[NCBI]
|
4.29104e-05
|
|
|
ALPS2A
|
[NCBI]
|
4.21656e-05
|
|
|
DTGA1
|
[NCBI]
|
4.21656e-05
|
|
|
FECD1
|
[NCBI]
|
4.21656e-05
|
|
|
fibular hypoplasia and complex brachydactyly
|
[NCBI]
|
4.21656e-05
|
|
|
FEB8
|
[NCBI]
|
4.21656e-05
|
|
|
cataract, microcephaly, failure to thrive, kyphoscoliosis syndrome
|
[NCBI]
|
4.21656e-05
|
|
|
IAHSP
|
[NCBI]
|
4.21656e-05
|
|
|
carcinoid tumors, intestinal
|
[NCBI]
|
4.21656e-05
|
|
|
BDD
|
[NCBI]
|
4.21656e-05
|
|
|
epilepsy, nocturnal frontal lobe, type 3
|
[NCBI]
|
4.21656e-05
|
|
|
charcot-marie-tooth disease, axonal, type 2i
|
[NCBI]
|
4.21656e-05
|
|
|
EDM5
|
[NCBI]
|
4.21656e-05
|
|
|
ARTS
|
[NCBI]
|
4.21656e-05
|
|
|
bile acid synthesis defect, congenital, 2
|
[NCBI]
|
4.21656e-05
|
|
|
chondrosarcoma
|
[NCBI]
|
4.21656e-05
|
|
|
insulin-like growth factor i, resistance to
|
[NCBI]
|
4.21656e-05
|
|
|
phosphoglycerate dehydrogenase deficiency
|
[NCBI]
|
4.21656e-05
|
|
|
coats disease
|
[NCBI]
|
4.21656e-05
|
|
|
bernard-soulier syndrome, benign autosomal dominant
|
[NCBI]
|
4.21656e-05
|
|
|
glomerulocystic kidney disease with hyperuricemia and isosthenuria
|
[NCBI]
|
4.21656e-05
|
|
|
MRX63
|
[NCBI]
|
4.21656e-05
|
|
|
CMTX5
|
[NCBI]
|
4.21656e-05
|
|
|
CVT
|
[NCBI]
|
4.21656e-05
|
|
|
NSIAD
|
[NCBI]
|
4.21656e-05
|
|
|
xeroderma pigmentosum ix
|
[NCBI]
|
4.21656e-05
|
|
|
OGD
|
[NCBI]
|
4.21656e-05
|
|
|
CLN10
|
[NCBI]
|
4.21656e-05
|
|
|
gonadal dysgenesis, 46,xy, partial, with minifascicular neuropathy
|
[NCBI]
|
4.21656e-05
|
|
|
FEB3
|
[NCBI]
|
4.21656e-05
|
|
|
LDHCP
|
[NCBI]
|
4.21656e-05
|
|
|
SERKAL
|
[NCBI]
|
4.21656e-05
|
|
|
MADB
|
[NCBI]
|
4.21656e-05
|
|
|
thrombocytopenia, platelet dysfunction, hemolysis, and imbalanced globin synthesis
|
[NCBI]
|
4.21656e-05
|
|
|
aminoacylase 1 deficiency
|
[NCBI]
|
4.21656e-05
|
|
|
ADCAD1
|
[NCBI]
|
4.21656e-05
|
|
|
DFNA36
|
[NCBI]
|
4.21656e-05
|
|
|
camptodactyly, tall stature, and hearing loss syndrome
|
[NCBI]
|
4.21656e-05
|
|
|
CMD1P
|
[NCBI]
|
4.21656e-05
|
|
|
JPHT
|
[NCBI]
|
4.21656e-05
|
|
|
charcot-marie-tooth disease, axonal, type 2e
|
[NCBI]
|
4.21656e-05
|
|
|
neuropathy, hereditary sensory, with spastic paraplegia, autosomal recessive
|
[NCBI]
|
4.21656e-05
|
|
|
osteoarthritis with mild chondrodysplasia
|
[NCBI]
|
4.21656e-05
|
|
|
ACVRL1
|
[NCBI]
|
4.19811e-05
|
|
|
PRODH
|
[NCBI]
|
4.19811e-05
|
|
|
FGFR2
|
[NCBI]
|
4.19036e-05
|
|
|
infantile spasm syndrome, x-linked
|
[NCBI]
|
4.1662e-05
|
|
|
blood group, p system
|
[NCBI]
|
4.1662e-05
|
|
|
neuropathy, congenital hypomyelinating
|
[NCBI]
|
4.1662e-05
|
|
|
SCCMS
|
[NCBI]
|
4.1662e-05
|
|
|
GACI
|
[NCBI]
|
4.1662e-05
|
|
|
amyloidosis vi
|
[NCBI]
|
4.1534e-05
|
|
|
CD
|
[NCBI]
|
4.15029e-05
|
|
|
MCOLN1
|
[NCBI]
|
4.14679e-05
|
|
|
ALPL
|
[NCBI]
|
4.12531e-05
|
|
|
MEFV
|
[NCBI]
|
4.12531e-05
|
|
|
BTHS
|
[NCBI]
|
4.07757e-05
|
|
|
KRT5
|
[NCBI]
|
4.055e-05
|
|
|
TECTA
|
[NCBI]
|
4.01416e-05
|
|
|
PAFAH1B1
|
[NCBI]
|
3.98703e-05
|
|
|
pejvakin
|
[NCBI]
|
3.97131e-05
|
|
|
EFHC1
|
[NCBI]
|
3.97131e-05
|
|
|
camurati-engelmann disease
|
[NCBI]
|
3.96088e-05
|
|
|
EAOH
|
[NCBI]
|
3.96088e-05
|
|