|
OMIM |
Link |
Information gain |
01 |
|
proteus syndrome
|
[NCBI]
|
0.00358055
|
|
|
FSHMD1A
|
[NCBI]
|
0.00322316
|
|
|
SRS
|
[NCBI]
|
0.00177045
|
|
|
hairy elbows
|
[NCBI]
|
0.00154023
|
|
|
pterygium, antecubital
|
[NCBI]
|
0.00154023
|
|
|
PKS
|
[NCBI]
|
0.00115604
|
|
|
FRNS
|
[NCBI]
|
0.00109066
|
|
|
MVA
|
[NCBI]
|
0.001081
|
|
|
PCD
|
[NCBI]
|
0.00103059
|
|
|
RA
|
[NCBI]
|
0.00100377
|
|
|
dermatitis, atopic
|
[NCBI]
|
0.000957313
|
|
|
HDL3
|
[NCBI]
|
0.000686408
|
|
|
angioma serpiginosum, x-linked
|
[NCBI]
|
0.000686408
|
|
|
USH1E
|
[NCBI]
|
0.000587628
|
|
|
SHFLD2
|
[NCBI]
|
0.000587628
|
|
|
HMI
|
[NCBI]
|
0.000560083
|
|
|
ichthyosis follicularis, atrichia, and photophobia syndrome
|
[NCBI]
|
0.000523945
|
|
|
USH2B
|
[NCBI]
|
0.00047693
|
|
|
larsen syndrome, recessive
|
[NCBI]
|
0.00047693
|
|
|
hemifacial microsomia with radial defects
|
[NCBI]
|
0.00047693
|
|
|
AS
|
[NCBI]
|
0.000471268
|
|
|
SHFM1
|
[NCBI]
|
0.00045212
|
|
|
nondisjunction
|
[NCBI]
|
0.00044098
|
|
|
pierre robin sequence with pectus excavatum and rib and scapular anomalies
|
[NCBI]
|
0.000439733
|
|
|
GBY
|
[NCBI]
|
0.000439733
|
|
|
schimmelpenning-feuerstein-mims syndrome
|
[NCBI]
|
0.000409023
|
|
|
RTT
|
[NCBI]
|
0.000400969
|
|
|
SHFLD1
|
[NCBI]
|
0.000340296
|
|
|
spatial visualization, aptitude for
|
[NCBI]
|
0.000340296
|
|
|
DRPLA
|
[NCBI]
|
0.000296726
|
|
|
IP
|
[NCBI]
|
0.000296545
|
|
|
PWS
|
[NCBI]
|
0.000275327
|
|
|
MAS
|
[NCBI]
|
0.000272593
|
|
|
PAND1
|
[NCBI]
|
0.000265978
|
|
|
MRX1
|
[NCBI]
|
0.000254541
|
|
|
bullous erythroderma ichthyosiformis congenita of brocq
|
[NCBI]
|
0.000209873
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
0.000209813
|
|
|
LISX1
|
[NCBI]
|
0.000199215
|
|
|
PCS
|
[NCBI]
|
0.000199215
|
|
|
diabetes mellitus, transient neonatal, 1
|
[NCBI]
|
0.000192516
|
|
|
CDPX2
|
[NCBI]
|
0.000181787
|
|
|
nevus, epidermal, epidermolytic hyperkeratotic type
|
[NCBI]
|
0.000175733
|
|
|
myeloproliferative syndrome, transient
|
[NCBI]
|
0.000172552
|
|
|
WAS
|
[NCBI]
|
0.000160405
|
|
|
GABEB
|
[NCBI]
|
0.000159884
|
|
|
SMAX1
|
[NCBI]
|
0.000159684
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
0.000158057
|
|
|
NF1
|
[NCBI]
|
0.000158016
|
|
|
melorheostosis
|
[NCBI]
|
0.000146765
|
|
|
RB1
|
[NCBI]
|
0.000144862
|
|
|
FDH
|
[NCBI]
|
0.000139259
|
|
|
COL1A1
|
[NCBI]
|
0.000138747
|
|
|
SMS
|
[NCBI]
|
0.000137691
|
|
|
DMD
|
[NCBI]
|
0.00013428
|
|
|
CMT1A
|
[NCBI]
|
0.000131636
|
|
|
sturge-weber syndrome
|
[NCBI]
|
0.000130473
|
|
|
MCOPS7
|
[NCBI]
|
0.000128131
|
|
|
DCX
|
[NCBI]
|
0.000125033
|
|
|
WAS
|
[NCBI]
|
0.000124575
|
|
|
behcet syndrome
|
[NCBI]
|
0.000122542
|
|
|
BWS
|
[NCBI]
|
0.000122275
|
|
|
SRY
|
[NCBI]
|
0.000120991
|
|
|
LRS1
|
[NCBI]
|
0.000119056
|
|
|
NF2
|
[NCBI]
|
0.00011612
|
|
|
COL17A1
|
[NCBI]
|
0.000114833
|
|
|
NYS1
|
[NCBI]
|
0.00011441
|
|
|
HPRT1
|
[NCBI]
|
0.00011434
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
0.00011356
|
|
|
TSC2
|
[NCBI]
|
0.000110781
|
|
|
kniest dysplasia
|
[NCBI]
|
0.000110269
|
|
|
MFS
|
[NCBI]
|
0.00010987
|
|
|
FMR1
|
[NCBI]
|
0.000108948
|
|
|
hemopoietic proliferation
|
[NCBI]
|
0.000106918
|
|
|
congenital heart defects, hamartomas of tongue, and polysyndactyly
|
[NCBI]
|
0.000106918
|
|
|
pierre robin sequence with facial and digital anomalies
|
[NCBI]
|
0.000106918
|
|
|
sclerocornea, autosomal dominant
|
[NCBI]
|
0.000106918
|
|
|
trisomy 18-like syndrome
|
[NCBI]
|
0.000106918
|
|
|
split-hand with congenital nystagmus, fundal changes, and cataracts
|
[NCBI]
|
0.000106918
|
|
|
encephalopathy, neonatal severe, due to mecp2 mutations
|
[NCBI]
|
0.000106535
|
|
|
FANCA
|
[NCBI]
|
0.000106469
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
0.000104205
|
|
|
klippel-trenaunay-weber syndrome
|
[NCBI]
|
0.000103984
|
|
|
OPD1
|
[NCBI]
|
0.000103135
|
|
|
crouzon syndrome
|
[NCBI]
|
0.000103135
|
|
|
denys-drash syndrome
|
[NCBI]
|
0.000103135
|
|
|
AD
|
[NCBI]
|
0.000101016
|
|
|
EKD1
|
[NCBI]
|
0.000100648
|
|
|
LNS
|
[NCBI]
|
0.000100418
|
|
|
G6PD
|
[NCBI]
|
0.000100211
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
9.71388e-05
|
|
|
OTC
|
[NCBI]
|
9.46819e-05
|
|
|
ACH
|
[NCBI]
|
9.32668e-05
|
|
|
DMD
|
[NCBI]
|
9.2868e-05
|
|
|
CES
|
[NCBI]
|
8.77678e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
8.50495e-05
|
|
|
TRPS1
|
[NCBI]
|
8.34071e-05
|
|
|
osteogenesis imperfecta, type iii
|
[NCBI]
|
8.34071e-05
|
|
|
PSACH
|
[NCBI]
|
7.92415e-05
|
|
|
nevus, keratinocytic, nonepidermolytic
|
[NCBI]
|
7.92409e-05
|
|
|
CC
|
[NCBI]
|
7.92409e-05
|
|
|
MCOPS5
|
[NCBI]
|
7.92409e-05
|
|
|
dk phocomelia syndrome
|
[NCBI]
|
7.92409e-05
|
|
|
aminopterin syndrome sine aminopterin
|
[NCBI]
|
7.92409e-05
|
|
|
tetramelic monodactyly
|
[NCBI]
|
7.92409e-05
|
|
|
angioma serpiginosum, autosomal dominant
|
[NCBI]
|
7.92409e-05
|
|
|
diabetes mellitus, transient neonatal, 3
|
[NCBI]
|
7.92409e-05
|
|
|
epidermolysis bullosa simplex with migratory circinate erythema
|
[NCBI]
|
7.92409e-05
|
|
|
GNAS
|
[NCBI]
|
7.57294e-05
|
|
|
HD
|
[NCBI]
|
7.52107e-05
|
|
|
MJD
|
[NCBI]
|
7.30356e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
7.26853e-05
|
|
|
AIS
|
[NCBI]
|
7.24907e-05
|
|
|
POF1
|
[NCBI]
|
7.20484e-05
|
|
|
WRN
|
[NCBI]
|
7.20107e-05
|
|
|
coats disease
|
[NCBI]
|
6.88543e-05
|
|
|
moved to 310600
|
[NCBI]
|
6.88543e-05
|
|
|
basal cell carcinoma, multiple
|
[NCBI]
|
6.88543e-05
|
|
|
CDLS1
|
[NCBI]
|
6.4048e-05
|
|
|
XIST
|
[NCBI]
|
6.27556e-05
|
|
|
SMA3
|
[NCBI]
|
6.24163e-05
|
|
|
FANCI
|
[NCBI]
|
6.21431e-05
|
|
|
fanconi anemia, complementation group j
|
[NCBI]
|
6.21431e-05
|
|
|
gracile bone dysplasia
|
[NCBI]
|
6.21431e-05
|
|
|
USH1F
|
[NCBI]
|
6.21431e-05
|
|
|
hemophilia a
|
[NCBI]
|
6.1554e-05
|
|
|
HEMB
|
[NCBI]
|
5.96428e-05
|
|
|
AR
|
[NCBI]
|
5.90486e-05
|
|
|
SMEI
|
[NCBI]
|
5.84643e-05
|
|
|
chorioretinal dysplasia-microcephaly-mental retardation syndrome
|
[NCBI]
|
5.71774e-05
|
|
|
oculocerebrocutaneous syndrome
|
[NCBI]
|
5.71774e-05
|
|
|
CYBB
|
[NCBI]
|
5.6334e-05
|
|
|
RTS
|
[NCBI]
|
5.5783e-05
|
|
|
F7R
|
[NCBI]
|
5.52771e-05
|
|
|
sotos syndrome
|
[NCBI]
|
5.41112e-05
|
|
|
FANCC
|
[NCBI]
|
5.38919e-05
|
|
|
cherubism
|
[NCBI]
|
5.32398e-05
|
|
|
ADCC
|
[NCBI]
|
5.32398e-05
|
|
|
USH2C
|
[NCBI]
|
5.32398e-05
|
|
|
autism
|
[NCBI]
|
5.20544e-05
|
|
|
TSC1
|
[NCBI]
|
5.02169e-05
|
|
|
radioulnar synostosis
|
[NCBI]
|
4.99816e-05
|
|
|
COL3A1
|
[NCBI]
|
4.94975e-05
|
|
|
MTM1
|
[NCBI]
|
4.81867e-05
|
|
|
FA
|
[NCBI]
|
4.7911e-05
|
|
|
EPPK
|
[NCBI]
|
4.72062e-05
|
|
|
hermaphroditism, true
|
[NCBI]
|
4.72062e-05
|
|
|
ODG2
|
[NCBI]
|
4.72062e-05
|
|
|
SANDO
|
[NCBI]
|
4.72062e-05
|
|
|
epiphyseal dysplasia, multiple, with early-onset diabetes mellitus
|
[NCBI]
|
4.72062e-05
|
|
|
MECP2
|
[NCBI]
|
4.70472e-05
|
|
|
BUB1B
|
[NCBI]
|
4.70114e-05
|
|
|
SUZ12
|
[NCBI]
|
4.58823e-05
|
|
|
OCRL
|
[NCBI]
|
4.48528e-05
|
|
|
xx male syndrome
|
[NCBI]
|
4.47918e-05
|
|
|
dyskeratosis congenita, autosomal dominant
|
[NCBI]
|
4.47918e-05
|
|
|
polydactyly, postaxial, type a1
|
[NCBI]
|
4.47918e-05
|
|
|
XG
|
[NCBI]
|
4.39068e-05
|
|
|
SRA2
|
[NCBI]
|
4.39068e-05
|
|
|
schwannomatosis
|
[NCBI]
|
4.26576e-05
|
|
|
SXI1
|
[NCBI]
|
4.26576e-05
|
|
|
USH1D
|
[NCBI]
|
4.26576e-05
|
|
|
pseudotrisomy 13 syndrome
|
[NCBI]
|
4.26576e-05
|
|
|
stuve-wiedemann syndrome
|
[NCBI]
|
4.26576e-05
|
|
|
hematopoietic stem cell kinetics, control of
|
[NCBI]
|
4.26576e-05
|
|
|
HGPS
|
[NCBI]
|
4.26564e-05
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
4.15563e-05
|
|
|
GVM
|
[NCBI]
|
4.07473e-05
|
|
|
coloboma, ocular
|
[NCBI]
|
4.07473e-05
|
|
|
MCOPS3
|
[NCBI]
|
4.07473e-05
|
|
|
LIS1
|
[NCBI]
|
3.902e-05
|
|
|
leiomyoma, hereditary multiple, of skin
|
[NCBI]
|
3.902e-05
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
3.8885e-05
|
|
|
SMN1
|
[NCBI]
|
3.86995e-05
|
|
|
USH3
|
[NCBI]
|
3.7445e-05
|
|
|
indifference to pain, congenital, autosomal recessive
|
[NCBI]
|
3.7445e-05
|
|
|
papillorenal syndrome
|
[NCBI]
|
3.7445e-05
|
|
|
phosphoribosylpyrophosphate synthetase superactivity
|
[NCBI]
|
3.7445e-05
|
|
|
GRTH
|
[NCBI]
|
3.7445e-05
|
|
|
LAMB3
|
[NCBI]
|
3.71947e-05
|
|
|
CCD
|
[NCBI]
|
3.66157e-05
|
|
|
LQT3
|
[NCBI]
|
3.59989e-05
|
|
|
cri-du-chat syndrome
|
[NCBI]
|
3.59989e-05
|
|
|
USH1C
|
[NCBI]
|
3.59989e-05
|
|
|
PNDM
|
[NCBI]
|
3.59989e-05
|
|
|
contractural arachnodactyly, congenital
|
[NCBI]
|
3.48953e-05
|
|
|
PTCH1
|
[NCBI]
|
3.48953e-05
|
|
|
FGFR3
|
[NCBI]
|
3.47861e-05
|
|
|
aging
|
[NCBI]
|
3.46631e-05
|
|
|
MTS
|
[NCBI]
|
3.46631e-05
|
|
|
DGS
|
[NCBI]
|
3.37221e-05
|
|
|
AFD1
|
[NCBI]
|
3.3423e-05
|
|
|
alexander disease
|
[NCBI]
|
3.3423e-05
|
|
|
IKBKG
|
[NCBI]
|
3.22985e-05
|
|
|
SPG2
|
[NCBI]
|
3.22665e-05
|
|
|
GDXY
|
[NCBI]
|
3.19717e-05
|
|
|
RPS6KA3
|
[NCBI]
|
3.16541e-05
|
|
|
MNS
|
[NCBI]
|
3.11839e-05
|
|
|
leopard syndrome 1
|
[NCBI]
|
3.11839e-05
|
|
|
B3GALT5
|
[NCBI]
|
3.07345e-05
|
|
|
SIDT1
|
[NCBI]
|
3.07345e-05
|
|
|
AGGF1
|
[NCBI]
|
3.07345e-05
|
|
|
ZFP37
|
[NCBI]
|
3.07345e-05
|
|
|
ZS
|
[NCBI]
|
3.05722e-05
|
|
|
GEFS+
|
[NCBI]
|
3.01668e-05
|
|
|
osteogenesis imperfecta, type iv
|
[NCBI]
|
3.01668e-05
|
|
|
JBS
|
[NCBI]
|
3.01668e-05
|
|
|
NGFB
|
[NCBI]
|
2.92353e-05
|
|
|
autonomic control, congenital failure of
|
[NCBI]
|
2.92084e-05
|
|
|
refsum disease, infantile form
|
[NCBI]
|
2.92084e-05
|
|
|
WHS
|
[NCBI]
|
2.91763e-05
|
|
|
PD
|
[NCBI]
|
2.78456e-05
|
|
|
thrombocythemia, essential
|
[NCBI]
|
2.74449e-05
|
|
|
CNC1
|
[NCBI]
|
2.74449e-05
|
|
|
USH2A
|
[NCBI]
|
2.66304e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
2.66304e-05
|
|
|
HOKPP
|
[NCBI]
|
2.58556e-05
|
|
|
WT1
|
[NCBI]
|
2.57226e-05
|
|
|
HCCS
|
[NCBI]
|
2.56169e-05
|
|
|
LATS1
|
[NCBI]
|
2.56169e-05
|
|
|
CELSR3
|
[NCBI]
|
2.56169e-05
|
|
|
MAB21L1
|
[NCBI]
|
2.56169e-05
|
|
|
CFNS
|
[NCBI]
|
2.51171e-05
|
|
|
PBD
|
[NCBI]
|
2.51171e-05
|
|
|
PRL
|
[NCBI]
|
2.46055e-05
|
|
|
SMA2
|
[NCBI]
|
2.4412e-05
|
|
|
LCA1
|
[NCBI]
|
2.4412e-05
|
|
|
FANCF
|
[NCBI]
|
2.41221e-05
|
|
|
EVC
|
[NCBI]
|
2.37378e-05
|
|
|
PHS
|
[NCBI]
|
2.30922e-05
|
|
|
usher syndrome, type i
|
[NCBI]
|
2.30922e-05
|
|
|
DAR
|
[NCBI]
|
2.30922e-05
|
|
|
GLI2
|
[NCBI]
|
2.29327e-05
|
|
|
FANCM
|
[NCBI]
|
2.29327e-05
|
|
|
NLGN4
|
[NCBI]
|
2.29327e-05
|
|
|
PHF9
|
[NCBI]
|
2.29327e-05
|
|
|
apert syndrome
|
[NCBI]
|
2.2473e-05
|
|
|
ATP2C1
|
[NCBI]
|
2.1945e-05
|
|
|
ABCA3
|
[NCBI]
|
2.1945e-05
|
|
|
chromosome 17q21.31 microdeletion syndrome
|
[NCBI]
|
2.1945e-05
|
|
|
FANCB
|
[NCBI]
|
2.1945e-05
|
|
|
BTK
|
[NCBI]
|
2.14021e-05
|
|
|
FPLD2
|
[NCBI]
|
2.13072e-05
|
|
|
BCPM
|
[NCBI]
|
2.13072e-05
|
|
|
COL2A1
|
[NCBI]
|
2.11604e-05
|
|
|
INHBB
|
[NCBI]
|
2.11006e-05
|
|
|
NIPBL
|
[NCBI]
|
2.11006e-05
|
|
|
FANCE
|
[NCBI]
|
2.11006e-05
|
|
|
PEX6
|
[NCBI]
|
2.11006e-05
|
|
|
ATP10A
|
[NCBI]
|
2.11006e-05
|
|
|
MPZ
|
[NCBI]
|
2.09242e-05
|
|
|
BCNS
|
[NCBI]
|
2.0758e-05
|
|
|
SGBS1
|
[NCBI]
|
2.07573e-05
|
|
|
ARSE
|
[NCBI]
|
2.03635e-05
|
|
|
MAF
|
[NCBI]
|
2.03635e-05
|
|
|
costello syndrome
|
[NCBI]
|
2.02277e-05
|
|
|
PEX12
|
[NCBI]
|
1.97096e-05
|
|
|
walker-warburg syndrome
|
[NCBI]
|
1.92242e-05
|
|
|
campomelic dysplasia
|
[NCBI]
|
1.92242e-05
|
|
|
GLI
|
[NCBI]
|
1.91222e-05
|
|
|
FBN1
|
[NCBI]
|
1.89157e-05
|
|
|
FIH
|
[NCBI]
|
1.87482e-05
|
|
|
GCPS
|
[NCBI]
|
1.87482e-05
|
|
|
POU3F4
|
[NCBI]
|
1.85891e-05
|
|
|
C10ORF2
|
[NCBI]
|
1.85891e-05
|
|
|
OTX2
|
[NCBI]
|
1.81012e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
1.78432e-05
|
|
|
PEPA
|
[NCBI]
|
1.76516e-05
|
|
|
FANCD2
|
[NCBI]
|
1.76516e-05
|
|
|
RGS2
|
[NCBI]
|
1.76516e-05
|
|
|
ATXN2
|
[NCBI]
|
1.76516e-05
|
|
|
CDKN2A
|
[NCBI]
|
1.75719e-05
|
|
|
von willebrand disease
|
[NCBI]
|
1.75719e-05
|
|
|
TRPS2
|
[NCBI]
|
1.74125e-05
|
|
|
SMOH
|
[NCBI]
|
1.72348e-05
|
|
|
EFNB1
|
[NCBI]
|
1.72348e-05
|
|
|
KRT10
|
[NCBI]
|
1.72348e-05
|
|
|
FOP
|
[NCBI]
|
1.69952e-05
|
|
|
DDC
|
[NCBI]
|
1.68457e-05
|
|
|
GABRB3
|
[NCBI]
|
1.64827e-05
|
|
|
LAMP2
|
[NCBI]
|
1.64827e-05
|
|
|
ADA
|
[NCBI]
|
1.62381e-05
|
|
|
HAE
|
[NCBI]
|
1.61987e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
1.61987e-05
|
|
|
RAD51
|
[NCBI]
|
1.61411e-05
|
|
|
HBZ
|
[NCBI]
|
1.58189e-05
|
|
|
JPS
|
[NCBI]
|
1.58182e-05
|
|
|
XRCC9
|
[NCBI]
|
1.55141e-05
|
|
|
FRAXE
|
[NCBI]
|
1.55141e-05
|
|
|
spermatogenic failure, nonobstructive, y-linked
|
[NCBI]
|
1.54488e-05
|
|
|
TS
|
[NCBI]
|
1.53093e-05
|
|
|
PHOX2B
|
[NCBI]
|
1.5225e-05
|
|
|
ALGS1
|
[NCBI]
|
1.509e-05
|
|
|
PCNA
|
[NCBI]
|
1.5068e-05
|
|
|
FGFR2
|
[NCBI]
|
1.48849e-05
|
|
|
ATP2A2
|
[NCBI]
|
1.46881e-05
|
|
|
GATA4
|
[NCBI]
|
1.46881e-05
|
|
|
EBP
|
[NCBI]
|
1.46881e-05
|
|
|
UBE3A
|
[NCBI]
|
1.44378e-05
|
|
|
RHD
|
[NCBI]
|
1.44378e-05
|
|
|
CSA
|
[NCBI]
|
1.44023e-05
|
|
|
apc gene
|
[NCBI]
|
1.43926e-05
|
|
|
HNF1B
|
[NCBI]
|
1.41983e-05
|
|
|
DRPLA
|
[NCBI]
|
1.41983e-05
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
1.40726e-05
|
|
|
NKX2E
|
[NCBI]
|
1.39688e-05
|
|
|
MYH9
|
[NCBI]
|
1.39688e-05
|
|
|
HNPP
|
[NCBI]
|
1.37517e-05
|
|
|
ELA2
|
[NCBI]
|
1.37484e-05
|
|
|
SCN1A
|
[NCBI]
|
1.37484e-05
|
|
|
PAX2
|
[NCBI]
|
1.37484e-05
|
|
|
IL2RG
|
[NCBI]
|
1.37484e-05
|
|
|
CDKN1C
|
[NCBI]
|
1.37484e-05
|
|
|
PMS2
|
[NCBI]
|
1.37484e-05
|
|
|
AN2
|
[NCBI]
|
1.34394e-05
|
|
|
C1NH
|
[NCBI]
|
1.31358e-05
|
|
|
SPTB
|
[NCBI]
|
1.31358e-05
|
|
|
ARX
|
[NCBI]
|
1.31358e-05
|
|
|
SLC25A4
|
[NCBI]
|
1.31358e-05
|
|
|
SCA7
|
[NCBI]
|
1.31352e-05
|
|
|
WS1
|
[NCBI]
|
1.31352e-05
|
|
|
TTN
|
[NCBI]
|
1.29459e-05
|
|
|
GPC3
|
[NCBI]
|
1.27625e-05
|
|
|
KCNJ11
|
[NCBI]
|
1.27625e-05
|
|
|
NCOA3
|
[NCBI]
|
1.27625e-05
|
|
|
GLI3
|
[NCBI]
|
1.2585e-05
|
|
|
ED1
|
[NCBI]
|
1.25502e-05
|
|
|
KRT5
|
[NCBI]
|
1.24132e-05
|
|
|
COL10A1
|
[NCBI]
|
1.24132e-05
|
|
|
COMP
|
[NCBI]
|
1.23644e-05
|
|
|
CHM
|
[NCBI]
|
1.22687e-05
|
|
|
PAFAH1B1
|
[NCBI]
|
1.22467e-05
|
|
|
CFI
|
[NCBI]
|
1.22467e-05
|
|
|
PPOX
|
[NCBI]
|
1.20852e-05
|
|
|
anemia, sideroblastic, x-linked
|
[NCBI]
|
1.20852e-05
|
|
|
PIGA
|
[NCBI]
|
1.19284e-05
|
|
|
NDP
|
[NCBI]
|
1.17761e-05
|
|
|
PHEX
|
[NCBI]
|
1.17761e-05
|
|
|
MYO7A
|
[NCBI]
|
1.17761e-05
|
|
|
BPES
|
[NCBI]
|
1.17265e-05
|
|
|
ABO
|
[NCBI]
|
1.14839e-05
|
|
|
JAG1
|
[NCBI]
|
1.14839e-05
|
|
|
EGFR
|
[NCBI]
|
1.12243e-05
|
|
|
SMN2
|
[NCBI]
|
1.1207e-05
|
|
|
PDHA1
|
[NCBI]
|
1.10739e-05
|
|
|
TCOF
|
[NCBI]
|
1.09615e-05
|
|
|
SOX9
|
[NCBI]
|
1.06936e-05
|
|
|
REST
|
[NCBI]
|
1.05727e-05
|
|
|
DAZ
|
[NCBI]
|
1.05727e-05
|
|
|
GSR
|
[NCBI]
|
1.05727e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
1.05727e-05
|
|
|
ATRX
|
[NCBI]
|
1.04546e-05
|
|
|
factor x deficiency
|
[NCBI]
|
1.03391e-05
|
|
|
TNFRSF6
|
[NCBI]
|
1.03391e-05
|
|
|
porphyria variegata
|
[NCBI]
|
1.02493e-05
|
|
|
TD1
|
[NCBI]
|
1.02493e-05
|
|
|
MEN2A
|
[NCBI]
|
1.00227e-05
|
|
|
RP2
|
[NCBI]
|
1.00076e-05
|
|
|
SCN5A
|
[NCBI]
|
9.79787e-06
|
|
|
FLNA
|
[NCBI]
|
9.69619e-06
|
|
|
IGF2
|
[NCBI]
|
9.21645e-06
|
|
|
PGK1
|
[NCBI]
|
9.03674e-06
|
|
|
AVSD
|
[NCBI]
|
8.96372e-06
|
|
|
SCA2
|
[NCBI]
|
8.19667e-06
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
8.015e-06
|
|
|
THRB
|
[NCBI]
|
8.00632e-06
|
|
|
PAX6
|
[NCBI]
|
7.8657e-06
|
|
|
MLH1
|
[NCBI]
|
7.79693e-06
|
|
|
SMA1
|
[NCBI]
|
7.66298e-06
|
|
|
ACHE
|
[NCBI]
|
7.2702e-06
|
|
|
APC
|
[NCBI]
|
7.03584e-06
|
|
|
CGD
|
[NCBI]
|
7.00157e-06
|
|
|
COL1A2
|
[NCBI]
|
6.87176e-06
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
6.87176e-06
|
|
|
TYR
|
[NCBI]
|
6.24803e-06
|
|
|
MBP
|
[NCBI]
|
6.02684e-06
|
|
|
HBB
|
[NCBI]
|
5.34203e-06
|
|
|
WT1
|
[NCBI]
|
5.18736e-06
|
|
|
BRCA2
|
[NCBI]
|
4.93068e-06
|
|
|
INSR
|
[NCBI]
|
4.89576e-06
|
|
|
CBX5
|
[NCBI]
|
4.6273e-06
|
|
|
ALPS
|
[NCBI]
|
4.38681e-06
|
|
|
ADHD
|
[NCBI]
|
4.38681e-06
|
|
|
CFTR
|
[NCBI]
|
4.37084e-06
|
|
|
VHL
|
[NCBI]
|
4.28107e-06
|
|
|
CASR
|
[NCBI]
|
4.11439e-06
|
|
|
PSEN1
|
[NCBI]
|
3.92298e-06
|
|
|
RP
|
[NCBI]
|
3.84753e-06
|
|
|
IHH
|
[NCBI]
|
3.42942e-06
|
|
|
PMP22
|
[NCBI]
|
3.16615e-06
|
|
|
ALD
|
[NCBI]
|
2.51587e-06
|
|
|
BRCA1
|
[NCBI]
|
2.51089e-06
|
|
|
HSCR1
|
[NCBI]
|
1.95961e-06
|
|
|
AMH
|
[NCBI]
|
1.92138e-06
|
|
|
GFAP
|
[NCBI]
|
1.72702e-06
|
|
|
AFP
|
[NCBI]
|
1.63846e-06
|
|
|
GPI
|
[NCBI]
|
1.54202e-06
|
|
|
INS
|
[NCBI]
|
1.27253e-06
|
|
|
LDLR
|
[NCBI]
|
1.23604e-06
|
|
|
PJS
|
[NCBI]
|
5.70985e-07
|
|
|
WBS
|
[NCBI]
|
5.44029e-07
|
|
|
CVID
|
[NCBI]
|
4.41607e-07
|
|
|
HP
|
[NCBI]
|
4.09318e-07
|
|
|
CHAT
|
[NCBI]
|
3.05046e-07
|
|
|
SOD2
|
[NCBI]
|
9.07357e-08
|
|
|
CPI
|
[NCBI]
|
5.94573e-08
|
|
|
MODY
|
[NCBI]
|
1.6405e-08
|
|