|
OMIM |
Link |
Information gain |
01 |
|
dibasicaminoaciduria i
|
[NCBI]
|
0.00435188
|
|
|
argininemia
|
[NCBI]
|
0.00240004
|
|
|
sprengel deformity
|
[NCBI]
|
0.00216024
|
|
|
SGM1
|
[NCBI]
|
0.00216024
|
|
|
LPI
|
[NCBI]
|
0.00197918
|
|
|
EVR3
|
[NCBI]
|
0.00144182
|
|
|
CMT2B2
|
[NCBI]
|
0.00144182
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
0.00122593
|
|
|
holoprosencephaly
|
[NCBI]
|
0.0010308
|
|
|
NPY
|
[NCBI]
|
0.000980183
|
|
|
pygmy
|
[NCBI]
|
0.000943848
|
|
|
apnea, obstructive sleep
|
[NCBI]
|
0.000778192
|
|
|
PEE1
|
[NCBI]
|
0.000666496
|
|
|
cystinuria
|
[NCBI]
|
0.000381105
|
|
|
SLE
|
[NCBI]
|
0.000349838
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
0.000310261
|
|
|
MAFD6
|
[NCBI]
|
0.000286614
|
|
|
ASS
|
[NCBI]
|
0.000264116
|
|
|
ASL
|
[NCBI]
|
0.000247434
|
|
|
RA
|
[NCBI]
|
0.000243659
|
|
|
HBB
|
[NCBI]
|
0.000227278
|
|
|
muenke syndrome
|
[NCBI]
|
0.000221508
|
|
|
GHRH
|
[NCBI]
|
0.000193331
|
|
|
citrullinemia, classic
|
[NCBI]
|
0.000190209
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
0.000171404
|
|
|
dyschromatosis symmetrica hereditaria 1
|
[NCBI]
|
0.000165746
|
|
|
carbamoyl phosphate synthetase i deficiency, hyperammonemia due to
|
[NCBI]
|
0.000165746
|
|
|
macular dystrophy, vitelliform, adult-onset
|
[NCBI]
|
0.000153299
|
|
|
HBA1
|
[NCBI]
|
0.000144501
|
|
|
ARG1
|
[NCBI]
|
0.000141527
|
|
|
ADRB3
|
[NCBI]
|
0.000127825
|
|
|
hyperlysinuria with hyperammonemia
|
[NCBI]
|
0.000119894
|
|
|
citrulline transport defect
|
[NCBI]
|
0.000119894
|
|
|
pulmonary hypertension, familial persistent, of the newborn
|
[NCBI]
|
0.000119894
|
|
|
POF5
|
[NCBI]
|
0.000119894
|
|
|
lysine malabsorption syndrome
|
[NCBI]
|
0.000119894
|
|
|
pituitary dwarfism with small sella turcica
|
[NCBI]
|
0.000119894
|
|
|
CISS2
|
[NCBI]
|
0.000119894
|
|
|
LMS
|
[NCBI]
|
0.00011397
|
|
|
RP
|
[NCBI]
|
0.000113692
|
|
|
pituitary dwarfism due to isolated growth hormone deficiency, autosomal dominant
|
[NCBI]
|
0.000110432
|
|
|
ATE1
|
[NCBI]
|
9.90647e-05
|
|
|
PYY
|
[NCBI]
|
9.87954e-05
|
|
|
pituitary dwarfism i
|
[NCBI]
|
9.86591e-05
|
|
|
LPG
|
[NCBI]
|
9.61692e-05
|
|
|
SEDC
|
[NCBI]
|
9.61692e-05
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
9.38206e-05
|
|
|
RMD
|
[NCBI]
|
9.15989e-05
|
|
|
ornithine aminotransferase deficiency
|
[NCBI]
|
9.11759e-05
|
|
|
AD
|
[NCBI]
|
9.02028e-05
|
|
|
CADASIL
|
[NCBI]
|
8.94915e-05
|
|
|
HOKPP
|
[NCBI]
|
8.94915e-05
|
|
|
ACHE
|
[NCBI]
|
8.92781e-05
|
|
|
hyperproglucagonemia
|
[NCBI]
|
8.84212e-05
|
|
|
cataract-microcornea syndrome
|
[NCBI]
|
8.84212e-05
|
|
|
PURE&apos
|
[NCBI]
|
8.84212e-05
|
|
|
wildervanck syndrome
|
[NCBI]
|
8.84212e-05
|
|
|
NAGS
|
[NCBI]
|
8.76482e-05
|
|
|
factor v deficiency
|
[NCBI]
|
8.66302e-05
|
|
|
PON1
|
[NCBI]
|
8.50967e-05
|
|
|
NGFB
|
[NCBI]
|
8.39726e-05
|
|
|
COL2A1
|
[NCBI]
|
8.31421e-05
|
|
|
antithrombin iii deficiency
|
[NCBI]
|
8.1997e-05
|
|
|
KLK3
|
[NCBI]
|
8.11432e-05
|
|
|
EGFR
|
[NCBI]
|
8.06304e-05
|
|
|
PCTT
|
[NCBI]
|
8.03418e-05
|
|
|
VWS
|
[NCBI]
|
7.71989e-05
|
|
|
LDHCP
|
[NCBI]
|
7.66157e-05
|
|
|
allergic rhinitis
|
[NCBI]
|
7.66157e-05
|
|
|
aminoacylase 1 deficiency
|
[NCBI]
|
7.66157e-05
|
|
|
pituitary dwarfism iv
|
[NCBI]
|
7.66157e-05
|
|
|
CMD1P
|
[NCBI]
|
7.66157e-05
|
|
|
MG
|
[NCBI]
|
7.6202e-05
|
|
|
VEGF
|
[NCBI]
|
7.61205e-05
|
|
|
FGG
|
[NCBI]
|
7.58952e-05
|
|
|
LGMD2A
|
[NCBI]
|
7.57169e-05
|
|
|
EGF
|
[NCBI]
|
6.98583e-05
|
|
|
FGA
|
[NCBI]
|
6.86532e-05
|
|
|
BDNF
|
[NCBI]
|
6.8115e-05
|
|
|
TH
|
[NCBI]
|
6.70084e-05
|
|
|
OTC
|
[NCBI]
|
6.57453e-05
|
|
|
F2
|
[NCBI]
|
6.41802e-05
|
|
|
currarino syndrome
|
[NCBI]
|
6.33512e-05
|
|
|
EVR2
|
[NCBI]
|
6.33512e-05
|
|
|
EDM4
|
[NCBI]
|
6.33512e-05
|
|
|
epidermolysis bullosa pruriginosa
|
[NCBI]
|
6.33512e-05
|
|
|
NEM1
|
[NCBI]
|
6.33512e-05
|
|
|
RP7
|
[NCBI]
|
6.33512e-05
|
|
|
PBT
|
[NCBI]
|
6.33512e-05
|
|
|
OKS
|
[NCBI]
|
6.33512e-05
|
|
|
keratoderma, palmoplantar, with deafness
|
[NCBI]
|
6.33512e-05
|
|
|
DDAH1
|
[NCBI]
|
6.21343e-05
|
|
|
PADI4
|
[NCBI]
|
6.21343e-05
|
|
|
hypertrophic neuropathy of dejerine-sottas
|
[NCBI]
|
6.13473e-05
|
|
|
GH1
|
[NCBI]
|
6.01755e-05
|
|
|
GIP
|
[NCBI]
|
6.00218e-05
|
|
|
AFP
|
[NCBI]
|
5.92986e-05
|
|
|
DA2B
|
[NCBI]
|
5.8881e-05
|
|
|
myopathy, myosin storage
|
[NCBI]
|
5.8881e-05
|
|
|
charcot-marie-tooth disease, axonal, type 2b1
|
[NCBI]
|
5.8881e-05
|
|
|
CMT4C
|
[NCBI]
|
5.8881e-05
|
|
|
RYR1
|
[NCBI]
|
5.70301e-05
|
|
|
bullous erythroderma ichthyosiformis congenita of brocq
|
[NCBI]
|
5.66924e-05
|
|
|
TNPO3
|
[NCBI]
|
5.62098e-05
|
|
|
PPIG
|
[NCBI]
|
5.62098e-05
|
|
|
wolff-parkinson-white syndrome
|
[NCBI]
|
5.51836e-05
|
|
|
longevity
|
[NCBI]
|
5.51836e-05
|
|
|
cardiomyopathy, familial hypertrophic, with wolff-parkinson-white syndrome
|
[NCBI]
|
5.51836e-05
|
|
|
insulin-like growth factor i, resistance to
|
[NCBI]
|
5.51836e-05
|
|
|
BFLS
|
[NCBI]
|
5.51836e-05
|
|
|
hyperphenylalaninemia with primapterinuria
|
[NCBI]
|
5.51836e-05
|
|
|
IBMPFD
|
[NCBI]
|
5.51836e-05
|
|
|
ED2
|
[NCBI]
|
5.51836e-05
|
|
|
GFAP
|
[NCBI]
|
5.49637e-05
|
|
|
CARM1
|
[NCBI]
|
5.41659e-05
|
|
|
SCA14
|
[NCBI]
|
5.20354e-05
|
|
|
CMT2A1
|
[NCBI]
|
5.20354e-05
|
|
|
SANDO
|
[NCBI]
|
5.20354e-05
|
|
|
RP10
|
[NCBI]
|
5.20354e-05
|
|
|
FGFR3
|
[NCBI]
|
5.04986e-05
|
|
|
VRNI
|
[NCBI]
|
5.00119e-05
|
|
|
fundus albipunctatus
|
[NCBI]
|
4.92978e-05
|
|
|
SCAR1
|
[NCBI]
|
4.92978e-05
|
|
|
EVR1
|
[NCBI]
|
4.92978e-05
|
|
|
PGL4
|
[NCBI]
|
4.92978e-05
|
|
|
PRTH
|
[NCBI]
|
4.92978e-05
|
|
|
renal tubular acidosis, distal, autosomal dominant
|
[NCBI]
|
4.92978e-05
|
|
|
GNAS
|
[NCBI]
|
4.83039e-05
|
|
|
ACH
|
[NCBI]
|
4.68827e-05
|
|
|
ALS1
|
[NCBI]
|
4.68827e-05
|
|
|
adult syndrome
|
[NCBI]
|
4.68789e-05
|
|
|
denys-drash syndrome
|
[NCBI]
|
4.68789e-05
|
|
|
SFRS12
|
[NCBI]
|
4.60125e-05
|
|
|
hemophilia a
|
[NCBI]
|
4.4912e-05
|
|
|
PALS
|
[NCBI]
|
4.47147e-05
|
|
|
n-acetylglutamate synthase deficiency
|
[NCBI]
|
4.47147e-05
|
|
|
CORD2
|
[NCBI]
|
4.47147e-05
|
|
|
hyperlysinemia
|
[NCBI]
|
4.47147e-05
|
|
|
CHAT
|
[NCBI]
|
4.41059e-05
|
|
|
FHM2
|
[NCBI]
|
4.27586e-05
|
|
|
SPG2
|
[NCBI]
|
4.27586e-05
|
|
|
EDMD2
|
[NCBI]
|
4.27586e-05
|
|
|
LGMD1B
|
[NCBI]
|
4.27586e-05
|
|
|
porphyria variegata
|
[NCBI]
|
4.2032e-05
|
|
|
HEMB
|
[NCBI]
|
4.15915e-05
|
|
|
omenn syndrome
|
[NCBI]
|
4.09757e-05
|
|
|
TPM3
|
[NCBI]
|
4.03944e-05
|
|
|
leprosy, susceptibility to
|
[NCBI]
|
3.93395e-05
|
|
|
alexander disease
|
[NCBI]
|
3.93395e-05
|
|
|
ehlers-danlos syndrome, type i
|
[NCBI]
|
3.93395e-05
|
|
|
AIS
|
[NCBI]
|
3.91236e-05
|
|
|
CPS1
|
[NCBI]
|
3.87085e-05
|
|
|
GAMT
|
[NCBI]
|
3.86767e-05
|
|
|
EPO
|
[NCBI]
|
3.83489e-05
|
|
|
SJS1
|
[NCBI]
|
3.78288e-05
|
|
|
MADA
|
[NCBI]
|
3.78288e-05
|
|
|
FTLDU
|
[NCBI]
|
3.78288e-05
|
|
|
EEC3
|
[NCBI]
|
3.78288e-05
|
|
|
neuropathy, congenital hypomyelinating
|
[NCBI]
|
3.78288e-05
|
|
|
lung cancer
|
[NCBI]
|
3.64268e-05
|
|
|
diabetes-deafness syndrome, maternally transmitted
|
[NCBI]
|
3.64268e-05
|
|
|
GEFS+
|
[NCBI]
|
3.64268e-05
|
|
|
LMNA
|
[NCBI]
|
3.61957e-05
|
|
|
ARG2
|
[NCBI]
|
3.58716e-05
|
|
|
SLC7A2
|
[NCBI]
|
3.58716e-05
|
|
|
SLC3A1
|
[NCBI]
|
3.51767e-05
|
|
|
osteogenesis imperfecta, type iv
|
[NCBI]
|
3.512e-05
|
|
|
MPO
|
[NCBI]
|
3.4778e-05
|
|
|
GJA8
|
[NCBI]
|
3.45614e-05
|
|
|
FGFR4
|
[NCBI]
|
3.39709e-05
|
|
|
HRPT1
|
[NCBI]
|
3.38972e-05
|
|
|
MNGIE
|
[NCBI]
|
3.38972e-05
|
|
|
PCD
|
[NCBI]
|
3.3734e-05
|
|
|
IRS1
|
[NCBI]
|
3.36856e-05
|
|
|
glucose transport defect, blood-brain barrier
|
[NCBI]
|
3.27489e-05
|
|
|
TMAU
|
[NCBI]
|
3.27489e-05
|
|
|
TSD
|
[NCBI]
|
3.25181e-05
|
|
|
CJD
|
[NCBI]
|
3.21756e-05
|
|
|
MDD
|
[NCBI]
|
3.20879e-05
|
|
|
EIG
|
[NCBI]
|
3.20864e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-negative, nk cell-negative, due to adenosine deaminase deficiency
|
[NCBI]
|
3.16896e-05
|
|
|
KAL2
|
[NCBI]
|
3.16674e-05
|
|
|
EVA
|
[NCBI]
|
3.16674e-05
|
|
|
osteoarthritis
|
[NCBI]
|
3.16674e-05
|
|
|
HBD
|
[NCBI]
|
3.13496e-05
|
|
|
MAF
|
[NCBI]
|
3.08783e-05
|
|
|
FRZB
|
[NCBI]
|
3.08783e-05
|
|
|
CGL2
|
[NCBI]
|
3.06459e-05
|
|
|
AHO
|
[NCBI]
|
3.05331e-05
|
|
|
PRPH2
|
[NCBI]
|
2.99547e-05
|
|
|
VIP
|
[NCBI]
|
2.9934e-05
|
|
|
PCNA
|
[NCBI]
|
2.98408e-05
|
|
|
hemoglobin--variants for which the chain carrying the mutation is unknown or uncertain
|
[NCBI]
|
2.96788e-05
|
|
|
RASA1
|
[NCBI]
|
2.957e-05
|
|
|
MAS
|
[NCBI]
|
2.94251e-05
|
|
|
sotos syndrome
|
[NCBI]
|
2.8761e-05
|
|
|
RP3
|
[NCBI]
|
2.8761e-05
|
|
|
niemann-pick disease, type b
|
[NCBI]
|
2.8761e-05
|
|
|
leiomyomatosis and renal cell cancer, hereditary
|
[NCBI]
|
2.8761e-05
|
|
|
RHO
|
[NCBI]
|
2.86772e-05
|
|
|
PRMT1
|
[NCBI]
|
2.85348e-05
|
|
|
SRPK1
|
[NCBI]
|
2.8103e-05
|
|
|
MTMR14
|
[NCBI]
|
2.8103e-05
|
|
|
GRIA2
|
[NCBI]
|
2.79202e-05
|
|
|
molybdenum cofactor deficiency
|
[NCBI]
|
2.78883e-05
|
|
|
CMD1A
|
[NCBI]
|
2.78883e-05
|
|
|
central core disease of muscle
|
[NCBI]
|
2.78883e-05
|
|
|
TNFRSF1B
|
[NCBI]
|
2.71827e-05
|
|
|
coproporphyria
|
[NCBI]
|
2.71827e-05
|
|
|
HGF
|
[NCBI]
|
2.60366e-05
|
|
|
TPH2
|
[NCBI]
|
2.58021e-05
|
|
|
diphosphoglycerate mutase deficiency of erythrocyte
|
[NCBI]
|
2.58021e-05
|
|
|
FPLD2
|
[NCBI]
|
2.55054e-05
|
|
|
TNNI3
|
[NCBI]
|
2.50352e-05
|
|
|
CBP2
|
[NCBI]
|
2.50352e-05
|
|
|
CMT1B
|
[NCBI]
|
2.47796e-05
|
|
|
CRC
|
[NCBI]
|
2.47575e-05
|
|
|
TNFSF6
|
[NCBI]
|
2.44245e-05
|
|
|
NOTCH3
|
[NCBI]
|
2.43233e-05
|
|
|
ADRB1
|
[NCBI]
|
2.43233e-05
|
|
|
MYH7
|
[NCBI]
|
2.42821e-05
|
|
|
PTH
|
[NCBI]
|
2.41938e-05
|
|
|
RTS
|
[NCBI]
|
2.4084e-05
|
|
|
SCS
|
[NCBI]
|
2.34164e-05
|
|
|
graves disease
|
[NCBI]
|
2.27751e-05
|
|
|
CACNA1S
|
[NCBI]
|
2.24528e-05
|
|
|
COL1A1
|
[NCBI]
|
2.22575e-05
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
2.21583e-05
|
|
|
TD1
|
[NCBI]
|
2.21583e-05
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
2.21583e-05
|
|
|
MM
|
[NCBI]
|
2.15645e-05
|
|
|
C9
|
[NCBI]
|
2.08851e-05
|
|
|
NOS3
|
[NCBI]
|
2.07448e-05
|
|
|
INS
|
[NCBI]
|
2.07163e-05
|
|
|
RERE
|
[NCBI]
|
2.07077e-05
|
|
|
KRTHB5
|
[NCBI]
|
2.07077e-05
|
|
|
SLC38A4
|
[NCBI]
|
2.07077e-05
|
|
|
CMAS
|
[NCBI]
|
2.07077e-05
|
|
|
ADAMTS20
|
[NCBI]
|
2.07077e-05
|
|
|
HNRPM
|
[NCBI]
|
2.07077e-05
|
|
|
KPNA6
|
[NCBI]
|
2.07077e-05
|
|
|
PRMT8
|
[NCBI]
|
2.07077e-05
|
|
|
GPR147
|
[NCBI]
|
2.07077e-05
|
|
|
H1F0
|
[NCBI]
|
2.07077e-05
|
|
|
SFRS6
|
[NCBI]
|
2.07077e-05
|
|
|
NOLA1
|
[NCBI]
|
2.07077e-05
|
|
|
PRMT6
|
[NCBI]
|
2.07077e-05
|
|
|
cisplatin resistance-associated overexpressed protein
|
[NCBI]
|
2.07077e-05
|
|
|
CDKL3
|
[NCBI]
|
2.07077e-05
|
|
|
GJB6
|
[NCBI]
|
2.04147e-05
|
|
|
phenylketonuria
|
[NCBI]
|
1.93967e-05
|
|
|
periodic fever, familial, autosomal dominant
|
[NCBI]
|
1.9393e-05
|
|
|
protein c deficiency, congenital thrombotic disease due to
|
[NCBI]
|
1.90917e-05
|
|
|
APC
|
[NCBI]
|
1.90749e-05
|
|
|
CFTR
|
[NCBI]
|
1.86241e-05
|
|
|
LRRK2
|
[NCBI]
|
1.85248e-05
|
|
|
mitochondrial complex i deficiency
|
[NCBI]
|
1.84142e-05
|
|
|
BCPM
|
[NCBI]
|
1.84142e-05
|
|
|
UCP1
|
[NCBI]
|
1.81372e-05
|
|
|
HBA2
|
[NCBI]
|
1.80181e-05
|
|
|
DDAH2
|
[NCBI]
|
1.7934e-05
|
|
|
MYH14
|
[NCBI]
|
1.7934e-05
|
|
|
MAFA
|
[NCBI]
|
1.7934e-05
|
|
|
SH3BP2
|
[NCBI]
|
1.7934e-05
|
|
|
nitric oxide synthase, chondrocyte
|
[NCBI]
|
1.7934e-05
|
|
|
CLCF1
|
[NCBI]
|
1.7934e-05
|
|
|
PRMT7
|
[NCBI]
|
1.7934e-05
|
|
|
ADAMTS9
|
[NCBI]
|
1.7934e-05
|
|
|
CENTB2
|
[NCBI]
|
1.7934e-05
|
|
|
CENTB1
|
[NCBI]
|
1.7934e-05
|
|
|
HTR3B
|
[NCBI]
|
1.7934e-05
|
|
|
WDR77
|
[NCBI]
|
1.7934e-05
|
|
|
immunoglobulin-like transcript 11
|
[NCBI]
|
1.7934e-05
|
|
|
SFRS5
|
[NCBI]
|
1.7934e-05
|
|
|
HIST1H4A
|
[NCBI]
|
1.7934e-05
|
|
|
NOBOX
|
[NCBI]
|
1.7934e-05
|
|
|
AVP
|
[NCBI]
|
1.76711e-05
|
|
|
PRSS1
|
[NCBI]
|
1.76519e-05
|
|
|
DJS
|
[NCBI]
|
1.74969e-05
|
|
|
COL4A5
|
[NCBI]
|
1.73169e-05
|
|
|
SMPD1
|
[NCBI]
|
1.73169e-05
|
|
|
NDP
|
[NCBI]
|
1.69938e-05
|
|
|
IAPP
|
[NCBI]
|
1.6923e-05
|
|
|
APOA1
|
[NCBI]
|
1.66496e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
1.62238e-05
|
|
|
sickle cell anemia
|
[NCBI]
|
1.62238e-05
|
|
|
sandhoff disease
|
[NCBI]
|
1.62238e-05
|
|
|
PLN
|
[NCBI]
|
1.61864e-05
|
|
|
SFRS9
|
[NCBI]
|
1.61426e-05
|
|
|
SFRS7
|
[NCBI]
|
1.61426e-05
|
|
|
PHF6
|
[NCBI]
|
1.61426e-05
|
|
|
RNPEP
|
[NCBI]
|
1.61426e-05
|
|
|
KLK12
|
[NCBI]
|
1.61426e-05
|
|
|
COIL
|
[NCBI]
|
1.61426e-05
|
|
|
SLC6A14
|
[NCBI]
|
1.61426e-05
|
|
|
SH3TC2
|
[NCBI]
|
1.61426e-05
|
|
|
NDUFA1
|
[NCBI]
|
1.61426e-05
|
|
|
HCK
|
[NCBI]
|
1.61426e-05
|
|
|
TCOF
|
[NCBI]
|
1.58243e-05
|
|
|
ADH5
|
[NCBI]
|
1.58064e-05
|
|
|
PTHR1
|
[NCBI]
|
1.58064e-05
|
|
|
CDKN1A
|
[NCBI]
|
1.58064e-05
|
|
|
VDR
|
[NCBI]
|
1.56202e-05
|
|
|
TP53
|
[NCBI]
|
1.55753e-05
|
|
|
POU1F1
|
[NCBI]
|
1.55328e-05
|
|
|
LEPR
|
[NCBI]
|
1.51739e-05
|
|
|
ARMD1
|
[NCBI]
|
1.50593e-05
|
|
|
GDNF
|
[NCBI]
|
1.49033e-05
|
|
|
TG
|
[NCBI]
|
1.48511e-05
|
|
|
GBP1
|
[NCBI]
|
1.48178e-05
|
|
|
IPMK
|
[NCBI]
|
1.48178e-05
|
|
|
IL10RA
|
[NCBI]
|
1.48178e-05
|
|
|
ELAVL1
|
[NCBI]
|
1.48178e-05
|
|
|
PYCS
|
[NCBI]
|
1.48178e-05
|
|
|
NLGN4
|
[NCBI]
|
1.48178e-05
|
|
|
GPR74
|
[NCBI]
|
1.48178e-05
|
|
|
REV1L
|
[NCBI]
|
1.48178e-05
|
|
|
GABRA6
|
[NCBI]
|
1.48178e-05
|
|
|
PRMT5
|
[NCBI]
|
1.48178e-05
|
|
|
SLC25A15
|
[NCBI]
|
1.48178e-05
|
|
|
BANP
|
[NCBI]
|
1.48178e-05
|
|
|
EIF4B
|
[NCBI]
|
1.48178e-05
|
|
|
CF
|
[NCBI]
|
1.46935e-05
|
|
|
CCD
|
[NCBI]
|
1.46929e-05
|
|
|
TNF
|
[NCBI]
|
1.43717e-05
|
|
|
SPP1
|
[NCBI]
|
1.42335e-05
|
|
|
FA
|
[NCBI]
|
1.42252e-05
|
|
|
SLC7A1
|
[NCBI]
|
1.37678e-05
|
|
|
KPNA1
|
[NCBI]
|
1.37678e-05
|
|
|
SLURP1
|
[NCBI]
|
1.37678e-05
|
|
|
PPP1R13L
|
[NCBI]
|
1.37678e-05
|
|
|
HTR3A
|
[NCBI]
|
1.37678e-05
|
|
|
SRI
|
[NCBI]
|
1.37678e-05
|
|
|
CLK1
|
[NCBI]
|
1.37678e-05
|
|
|
RANGAP1
|
[NCBI]
|
1.37678e-05
|
|
|
PDHA1
|
[NCBI]
|
1.36088e-05
|
|
|
lymphoma, non-hodgkin, familial
|
[NCBI]
|
1.35728e-05
|
|
|
RNASE3
|
[NCBI]
|
1.32943e-05
|
|
|
SHH
|
[NCBI]
|
1.29077e-05
|
|
|
CACNA2D1
|
[NCBI]
|
1.28993e-05
|
|
|
MYH10
|
[NCBI]
|
1.28993e-05
|
|
|
MYH2
|
[NCBI]
|
1.28993e-05
|
|
|
TPM2
|
[NCBI]
|
1.28993e-05
|
|
|
CPZ
|
[NCBI]
|
1.28993e-05
|
|
|
LNPEP
|
[NCBI]
|
1.28993e-05
|
|
|
KLF11
|
[NCBI]
|
1.28993e-05
|
|
|
KCNA2
|
[NCBI]
|
1.28993e-05
|
|
|
WAS
|
[NCBI]
|
1.27896e-05
|
|
|
COL7A1
|
[NCBI]
|
1.2597e-05
|
|
|
MHS1
|
[NCBI]
|
1.23893e-05
|
|
|
PTK2
|
[NCBI]
|
1.23316e-05
|
|
|
COL9A3
|
[NCBI]
|
1.21599e-05
|
|
|
NLGN3
|
[NCBI]
|
1.21599e-05
|
|
|
SLC7A7
|
[NCBI]
|
1.21599e-05
|
|
|
PCBD1
|
[NCBI]
|
1.21599e-05
|
|
|
tritanopia
|
[NCBI]
|
1.21599e-05
|
|
|
PAI2
|
[NCBI]
|
1.21599e-05
|
|
|
RET
|
[NCBI]
|
1.15723e-05
|
|
|
ST7
|
[NCBI]
|
1.1517e-05
|
|
|
AVPR1A
|
[NCBI]
|
1.1517e-05
|
|
|
GSTZ1
|
[NCBI]
|
1.1517e-05
|
|
|
ANTXR2
|
[NCBI]
|
1.1517e-05
|
|
|
SFRS1
|
[NCBI]
|
1.1517e-05
|
|
|
SETX
|
[NCBI]
|
1.1517e-05
|
|
|
GBE1
|
[NCBI]
|
1.1517e-05
|
|
|
bare lymphocyte syndrome, type ii
|
[NCBI]
|
1.12492e-05
|
|
|
FMF
|
[NCBI]
|
1.11151e-05
|
|
|
CEBPE
|
[NCBI]
|
1.0949e-05
|
|
|
MGAT1
|
[NCBI]
|
1.0949e-05
|
|
|
ICSBP1
|
[NCBI]
|
1.0949e-05
|
|
|
TST
|
[NCBI]
|
1.0949e-05
|
|
|
IMPDH1
|
[NCBI]
|
1.0949e-05
|
|
|
von willebrand disease
|
[NCBI]
|
1.08201e-05
|
|
|
FTD
|
[NCBI]
|
1.07873e-05
|
|
|
INSR
|
[NCBI]
|
1.06411e-05
|
|
|
DUT
|
[NCBI]
|
1.04408e-05
|
|
|
AMT
|
[NCBI]
|
1.04408e-05
|
|
|
HCF2
|
[NCBI]
|
1.04408e-05
|
|
|
MTND4
|
[NCBI]
|
1.03e-05
|
|
|
SPTA1
|
[NCBI]
|
1.03e-05
|
|
|
ABP1
|
[NCBI]
|
1.02675e-05
|
|
|
HBG2
|
[NCBI]
|
1.01595e-05
|
|
|
MED12
|
[NCBI]
|
9.98157e-06
|
|
|
DNM2
|
[NCBI]
|
9.98157e-06
|
|
|
CYP27A1
|
[NCBI]
|
9.98157e-06
|
|
|
RFX5
|
[NCBI]
|
9.98157e-06
|
|
|
POLB
|
[NCBI]
|
9.98157e-06
|
|
|
CMH
|
[NCBI]
|
9.97266e-06
|
|
|
LCAT
|
[NCBI]
|
9.77491e-06
|
|
|
KRT18
|
[NCBI]
|
9.56303e-06
|
|
|
SLC7A9
|
[NCBI]
|
9.56303e-06
|
|
|
WWOX
|
[NCBI]
|
9.56303e-06
|
|
|
EIF2B5
|
[NCBI]
|
9.56303e-06
|
|
|
RANBP1
|
[NCBI]
|
9.56303e-06
|
|
|
CNTFR
|
[NCBI]
|
9.56303e-06
|
|
|
UGT1A1
|
[NCBI]
|
9.49487e-06
|
|
|
GCCR
|
[NCBI]
|
9.36896e-06
|
|
|
ECGF1
|
[NCBI]
|
9.17893e-06
|
|
|
CRYGD
|
[NCBI]
|
9.17893e-06
|
|
|
ONECUT1
|
[NCBI]
|
9.17893e-06
|
|
|
GABRA1
|
[NCBI]
|
9.17893e-06
|
|
|
DCTN1
|
[NCBI]
|
9.17893e-06
|
|
|
KRT10
|
[NCBI]
|
9.17893e-06
|
|
|
maple syrup urine disease
|
[NCBI]
|
9.05454e-06
|
|
|
SLC25A1
|
[NCBI]
|
8.82433e-06
|
|
|
SMOH
|
[NCBI]
|
8.82433e-06
|
|
|
SGSH
|
[NCBI]
|
8.82433e-06
|
|
|
TBXA2R
|
[NCBI]
|
8.82433e-06
|
|
|
THRB
|
[NCBI]
|
8.65739e-06
|
|
|
REG3A
|
[NCBI]
|
8.65739e-06
|
|
|
SLC4A1
|
[NCBI]
|
8.65739e-06
|
|
|
TLR2
|
[NCBI]
|
8.54987e-06
|
|
|
FRAP1
|
[NCBI]
|
8.53069e-06
|
|
|
RNASEL
|
[NCBI]
|
8.49529e-06
|
|
|
AGL
|
[NCBI]
|
8.49529e-06
|
|
|
JUP
|
[NCBI]
|
8.49529e-06
|
|
|
ACTB
|
[NCBI]
|
8.49529e-06
|
|
|
ENAM
|
[NCBI]
|
8.49529e-06
|
|
|
SDHB
|
[NCBI]
|
8.49529e-06
|
|
|
TP73
|
[NCBI]
|
8.49529e-06
|
|
|
ACY1
|
[NCBI]
|
8.49529e-06
|
|
|
BTD
|
[NCBI]
|
8.49529e-06
|
|
|
ADCYAP1
|
[NCBI]
|
8.44604e-06
|
|
|
VCP
|
[NCBI]
|
8.32736e-06
|
|
|
SELE
|
[NCBI]
|
8.18861e-06
|
|
|
SHBG
|
[NCBI]
|
8.16742e-06
|
|
|
RAN
|
[NCBI]
|
7.90165e-06
|
|
|
JMJD6
|
[NCBI]
|
7.90165e-06
|
|
|
H4FN
|
[NCBI]
|
7.90165e-06
|
|
|
PRKCG
|
[NCBI]
|
7.90165e-06
|
|
|
GJA3
|
[NCBI]
|
7.90165e-06
|
|
|
CASR
|
[NCBI]
|
7.85599e-06
|
|
|
PPARA
|
[NCBI]
|
7.69838e-06
|
|
|
GCG
|
[NCBI]
|
7.63222e-06
|
|
|
FGB
|
[NCBI]
|
7.63222e-06
|
|
|
HBG1
|
[NCBI]
|
7.61551e-06
|
|
|
ACADM
|
[NCBI]
|
7.42151e-06
|
|
|
NEFL
|
[NCBI]
|
7.37847e-06
|
|
|
HEXA
|
[NCBI]
|
7.33288e-06
|
|
|
MODY
|
[NCBI]
|
7.27896e-06
|
|
|
CCK
|
[NCBI]
|
7.20161e-06
|
|
|
RAG2
|
[NCBI]
|
7.13883e-06
|
|
|
SLC2A1
|
[NCBI]
|
7.13883e-06
|
|
|
hypogonadotropic hypogonadism
|
[NCBI]
|
6.91773e-06
|
|
|
WIPF1
|
[NCBI]
|
6.91196e-06
|
|
|
MSX1
|
[NCBI]
|
6.91196e-06
|
|
|
PAX8
|
[NCBI]
|
6.91196e-06
|
|
|
tay-sachs disease, ab variant
|
[NCBI]
|
6.69669e-06
|
|
|
TGFBI
|
[NCBI]
|
6.69669e-06
|
|
|
F12
|
[NCBI]
|
6.69669e-06
|
|
|
pta deficiency
|
[NCBI]
|
6.69669e-06
|
|
|
PLSCR1
|
[NCBI]
|
6.69669e-06
|
|
|
ARNTL
|
[NCBI]
|
6.69669e-06
|
|
|
IRF1
|
[NCBI]
|
6.69669e-06
|
|
|
MRE11A
|
[NCBI]
|
6.69669e-06
|
|
|
CRYAA
|
[NCBI]
|
6.49202e-06
|
|
|
RPS19
|
[NCBI]
|
6.49202e-06
|
|
|
AR
|
[NCBI]
|
6.43698e-06
|
|
|
MAPK8
|
[NCBI]
|
6.29705e-06
|
|
|
CPD
|
[NCBI]
|
6.29705e-06
|
|
|
LRP5
|
[NCBI]
|
6.29705e-06
|
|
|
CPM
|
[NCBI]
|
6.29705e-06
|
|
|
TYR
|
[NCBI]
|
6.16312e-06
|
|
|
AMPD1
|
[NCBI]
|
6.11102e-06
|
|
|
GSK3B
|
[NCBI]
|
6.11102e-06
|
|
|
APS1
|
[NCBI]
|
6.10321e-06
|
|
|
ADM
|
[NCBI]
|
5.95984e-06
|
|
|
PWS
|
[NCBI]
|
5.95823e-06
|
|
|
DBA
|
[NCBI]
|
5.95045e-06
|
|
|
HLA-DRB1
|
[NCBI]
|
5.93323e-06
|
|
|
GZMA
|
[NCBI]
|
5.93323e-06
|
|
|
TP73L
|
[NCBI]
|
5.93323e-06
|
|
|
CBD
|
[NCBI]
|
5.76308e-06
|
|
|
CYP11B1
|
[NCBI]
|
5.76308e-06
|
|
|
SPTB
|
[NCBI]
|
5.76308e-06
|
|
|
PPARGC1A
|
[NCBI]
|
5.76308e-06
|
|
|
KRT14
|
[NCBI]
|
5.76308e-06
|
|
|
SLN
|
[NCBI]
|
5.60001e-06
|
|
|
NOS1
|
[NCBI]
|
5.60001e-06
|
|
|
FABP2
|
[NCBI]
|
5.60001e-06
|
|
|
POLR2A
|
[NCBI]
|
5.60001e-06
|
|
|
CPB2
|
[NCBI]
|
5.58767e-06
|
|
|
APOB
|
[NCBI]
|
5.4705e-06
|
|
|
IVD
|
[NCBI]
|
5.44354e-06
|
|
|
EDN3
|
[NCBI]
|
5.44354e-06
|
|
|
F3
|
[NCBI]
|
5.16802e-06
|
|
|
HGFAC
|
[NCBI]
|
5.14869e-06
|
|
|
TWIST1
|
[NCBI]
|
5.14869e-06
|
|
|
CAPN3
|
[NCBI]
|
5.14869e-06
|
|
|
ALPL
|
[NCBI]
|
5.14869e-06
|
|
|
NOS2A
|
[NCBI]
|
5.14869e-06
|
|
|
RBP4
|
[NCBI]
|
5.00954e-06
|
|
|
IRF3
|
[NCBI]
|
5.00954e-06
|
|
|
KCNJ11
|
[NCBI]
|
5.00954e-06
|
|
|
GAL
|
[NCBI]
|
5.00403e-06
|
|
|
CTGF
|
[NCBI]
|
4.88377e-06
|
|
|
HSPB1
|
[NCBI]
|
4.87547e-06
|
|
|
COL10A1
|
[NCBI]
|
4.87547e-06
|
|
|
RP2
|
[NCBI]
|
4.74617e-06
|
|
|
PPIA
|
[NCBI]
|
4.48594e-06
|
|
|
PRL
|
[NCBI]
|
4.4667e-06
|
|
|
RUNX2
|
[NCBI]
|
4.3843e-06
|
|
|
GHRL
|
[NCBI]
|
4.3843e-06
|
|
|
APOC2
|
[NCBI]
|
4.3843e-06
|
|
|
CNTF
|
[NCBI]
|
4.35111e-06
|
|
|
OPTN
|
[NCBI]
|
4.27159e-06
|
|
|
IL5
|
[NCBI]
|
4.16249e-06
|
|
|
KAL1
|
[NCBI]
|
4.16249e-06
|
|
|
JAG1
|
[NCBI]
|
4.16249e-06
|
|
|
CXCR4
|
[NCBI]
|
4.16249e-06
|
|
|
ADRB2
|
[NCBI]
|
4.16249e-06
|
|
|
COMP
|
[NCBI]
|
4.11988e-06
|
|
|
GK
|
[NCBI]
|
4.05683e-06
|
|
|
GLB1
|
[NCBI]
|
4.05683e-06
|
|
|
IL13
|
[NCBI]
|
4.05683e-06
|
|
|
ADA
|
[NCBI]
|
4.01738e-06
|
|
|
DPYD
|
[NCBI]
|
3.95443e-06
|
|
|
ATP7B
|
[NCBI]
|
3.95443e-06
|
|
|
FY
|
[NCBI]
|
3.95443e-06
|
|
|
TPI1
|
[NCBI]
|
3.95443e-06
|
|
|
FGF7
|
[NCBI]
|
3.90629e-06
|
|
|
MBP
|
[NCBI]
|
3.86392e-06
|
|
|
SCN4A
|
[NCBI]
|
3.85514e-06
|
|
|
complement component 2 deficiency
|
[NCBI]
|
3.85514e-06
|
|
|
SIRT1
|
[NCBI]
|
3.85514e-06
|
|
|
GRN
|
[NCBI]
|
3.85514e-06
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
3.75882e-06
|
|
|
PTHLH
|
[NCBI]
|
3.71931e-06
|
|
|
DRPLA
|
[NCBI]
|
3.68361e-06
|
|
|
ARF6
|
[NCBI]
|
3.66533e-06
|
|
|
DES
|
[NCBI]
|
3.57455e-06
|
|
|
ACADS
|
[NCBI]
|
3.57455e-06
|
|
|
CDA
|
[NCBI]
|
3.57455e-06
|
|
|
POLG
|
[NCBI]
|
3.48635e-06
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
3.40063e-06
|
|
|
ZNF145
|
[NCBI]
|
3.40063e-06
|
|
|
CYP17A1
|
[NCBI]
|
3.31729e-06
|
|
|
EV
|
[NCBI]
|
3.28549e-06
|
|
|
HEXB
|
[NCBI]
|
3.23622e-06
|
|
|
CTSC
|
[NCBI]
|
3.23622e-06
|
|
|
COL3A1
|
[NCBI]
|
3.15734e-06
|
|
|
XDH
|
[NCBI]
|
3.09039e-06
|
|
|
SCN5A
|
[NCBI]
|
3.08056e-06
|
|
|
SOD1
|
[NCBI]
|
3.04949e-06
|
|
|
WAS
|
[NCBI]
|
3.00822e-06
|
|
|
ADAM17
|
[NCBI]
|
3.0058e-06
|
|
|
PD
|
[NCBI]
|
2.96584e-06
|
|
|
TPO
|
[NCBI]
|
2.93517e-06
|
|
|
HMBS
|
[NCBI]
|
2.90246e-06
|
|
|
FH
|
[NCBI]
|
2.86203e-06
|
|
|
UNG
|
[NCBI]
|
2.72548e-06
|
|
|
CRH
|
[NCBI]
|
2.72462e-06
|
|
|
AHR
|
[NCBI]
|
2.72216e-06
|
|
|
KIT
|
[NCBI]
|
2.65976e-06
|
|
|
FGF23
|
[NCBI]
|
2.59565e-06
|
|
|
F13A1
|
[NCBI]
|
2.53311e-06
|
|
|
DAO
|
[NCBI]
|
2.53311e-06
|
|
|
RPGR
|
[NCBI]
|
2.53311e-06
|
|
|
UMOD
|
[NCBI]
|
2.53311e-06
|
|
|
GNRHR
|
[NCBI]
|
2.53311e-06
|
|
|
DFFB
|
[NCBI]
|
2.53311e-06
|
|
|
APOE
|
[NCBI]
|
2.4288e-06
|
|
|
HNF4A
|
[NCBI]
|
2.41252e-06
|
|
|
TF
|
[NCBI]
|
2.34704e-06
|
|
|
PMD
|
[NCBI]
|
2.27543e-06
|
|
|
CDK4
|
[NCBI]
|
2.20458e-06
|
|
|
NP
|
[NCBI]
|
2.18798e-06
|
|
|
SLC2A2
|
[NCBI]
|
2.18798e-06
|
|
|
CP
|
[NCBI]
|
2.18056e-06
|
|
|
CYP19A1
|
[NCBI]
|
2.03284e-06
|
|
|
GAPDH
|
[NCBI]
|
2.02352e-06
|
|
|
GJB2
|
[NCBI]
|
2.00435e-06
|
|
|
PAX6
|
[NCBI]
|
1.93518e-06
|
|
|
NF1
|
[NCBI]
|
1.8441e-06
|
|
|
NMU
|
[NCBI]
|
1.84184e-06
|
|
|
PARK2
|
[NCBI]
|
1.79671e-06
|
|
|
POMC
|
[NCBI]
|
1.70795e-06
|
|
|
G6PD
|
[NCBI]
|
1.69309e-06
|
|
|
AQP2
|
[NCBI]
|
1.66716e-06
|
|
|
VHL
|
[NCBI]
|
1.66716e-06
|
|
|
STAT3
|
[NCBI]
|
1.63435e-06
|
|
|
MTTL1
|
[NCBI]
|
1.62584e-06
|
|
|
ANG
|
[NCBI]
|
1.62584e-06
|
|
|
TTR
|
[NCBI]
|
1.54404e-06
|
|
|
TYMS
|
[NCBI]
|
1.53613e-06
|
|
|
TSHR
|
[NCBI]
|
1.46926e-06
|
|
|
FMR1
|
[NCBI]
|
1.44167e-06
|
|
|
GBA
|
[NCBI]
|
1.36036e-06
|
|
|
PMCH
|
[NCBI]
|
1.33486e-06
|
|
|
ARNT
|
[NCBI]
|
1.25823e-06
|
|
|
SLC11A2
|
[NCBI]
|
1.25823e-06
|
|
|
SMN1
|
[NCBI]
|
1.2256e-06
|
|
|
COL1A2
|
[NCBI]
|
1.19366e-06
|
|
|
LDLR
|
[NCBI]
|
1.19036e-06
|
|
|
MEN1
|
[NCBI]
|
1.16239e-06
|
|
|
MPZ
|
[NCBI]
|
1.16239e-06
|
|
|
TRPV1
|
[NCBI]
|
1.13177e-06
|
|
|
GCK
|
[NCBI]
|
1.0437e-06
|
|
|
LCT
|
[NCBI]
|
1.01556e-06
|
|
|
TNFRSF1A
|
[NCBI]
|
9.8801e-07
|
|
|
AIRE
|
[NCBI]
|
9.08757e-07
|
|
|
AKR1B1
|
[NCBI]
|
8.29155e-07
|
|
|
PAEP
|
[NCBI]
|
7.87354e-07
|
|
|
CPE
|
[NCBI]
|
7.42295e-07
|
|
|
ABCB11
|
[NCBI]
|
6.99125e-07
|
|
|
NSF
|
[NCBI]
|
6.78227e-07
|
|
|
IL4
|
[NCBI]
|
6.78227e-07
|
|
|
SDC2
|
[NCBI]
|
6.76688e-07
|
|
|
SERPINA6
|
[NCBI]
|
6.55827e-07
|
|
|
LBP
|
[NCBI]
|
6.18182e-07
|
|
|
CDKN2A
|
[NCBI]
|
5.99023e-07
|
|
|
HDAC1
|
[NCBI]
|
5.8028e-07
|
|
|
MAPK1
|
[NCBI]
|
5.8028e-07
|
|
|
FBN1
|
[NCBI]
|
5.44014e-07
|
|
|
PRKCM
|
[NCBI]
|
4.44478e-07
|
|
|
MAPT
|
[NCBI]
|
4.44478e-07
|
|
|
LPL
|
[NCBI]
|
3.64143e-07
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
3.44532e-07
|
|
|
FGFR1
|
[NCBI]
|
2.94559e-07
|
|
|
TFPI
|
[NCBI]
|
2.93389e-07
|
|
|
PLG
|
[NCBI]
|
2.78502e-07
|
|
|
PG
|
[NCBI]
|
2.49401e-07
|
|
|
SLC6A3
|
[NCBI]
|
2.49278e-07
|
|
|
leber optic atrophy
|
[NCBI]
|
2.38843e-07
|
|
|
MAG
|
[NCBI]
|
2.01779e-07
|
|
|
RB1
|
[NCBI]
|
1.72437e-07
|
|
|
PI
|
[NCBI]
|
1.57049e-07
|
|
|
CAT
|
[NCBI]
|
1.47658e-07
|
|
|
SST
|
[NCBI]
|
1.35357e-07
|
|
|
ALB
|
[NCBI]
|
1.30753e-07
|
|
|
ACE
|
[NCBI]
|
1.26562e-07
|
|
|
STAT1
|
[NCBI]
|
1.25454e-07
|
|
|
ILK
|
[NCBI]
|
1.04096e-07
|
|
|
ALK
|
[NCBI]
|
8.52793e-08
|
|
|
GNRH1
|
[NCBI]
|
8.10947e-08
|
|
|
FGF2
|
[NCBI]
|
7.05472e-08
|
|
|
VASP
|
[NCBI]
|
6.07032e-08
|
|
|
PRNP
|
[NCBI]
|
6.02366e-08
|
|
|
DHFR
|
[NCBI]
|
5.74966e-08
|
|
|
FGFR2
|
[NCBI]
|
4.34304e-08
|
|
|
LRP1
|
[NCBI]
|
2.91053e-08
|
|
|
MB
|
[NCBI]
|
2.38205e-08
|
|
|
AGER
|
[NCBI]
|
1.56587e-08
|
|
|
NPPA
|
[NCBI]
|
9.67167e-09
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
7.01658e-09
|
|
|
MFS
|
[NCBI]
|
5.70709e-11
|
|