|
OMIM |
Link |
Information gain |
01 |
|
spiegler-brooke syndrome
|
[NCBI]
|
0.00158078
|
|
|
RA
|
[NCBI]
|
0.00148265
|
|
|
holoprosencephaly
|
[NCBI]
|
0.000997494
|
|
|
dermatoglyphics--fingerprint pattern
|
[NCBI]
|
0.000918893
|
|
|
SLE
|
[NCBI]
|
0.000889724
|
|
|
myasthenia, limb-girdle, with tubular aggregates
|
[NCBI]
|
0.00081917
|
|
|
dyschromatosis universalis hereditaria
|
[NCBI]
|
0.000754543
|
|
|
OB10P
|
[NCBI]
|
0.000754543
|
|
|
psoriasis susceptibility 8
|
[NCBI]
|
0.000754543
|
|
|
BRCA3
|
[NCBI]
|
0.000754543
|
|
|
OTSC1
|
[NCBI]
|
0.00054645
|
|
|
VUR1
|
[NCBI]
|
0.000431404
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
0.000322887
|
|
|
RTT
|
[NCBI]
|
0.000314591
|
|
|
SHFM1
|
[NCBI]
|
0.000313166
|
|
|
WAS
|
[NCBI]
|
0.000250621
|
|
|
SMDP1
|
[NCBI]
|
0.000246843
|
|
|
AD
|
[NCBI]
|
0.000224273
|
|
|
APC
|
[NCBI]
|
0.000223466
|
|
|
STHAG3
|
[NCBI]
|
0.000203795
|
|
|
autonomic control, congenital failure of
|
[NCBI]
|
0.000200469
|
|
|
WAS
|
[NCBI]
|
0.000190957
|
|
|
CCD
|
[NCBI]
|
0.000190557
|
|
|
AHO
|
[NCBI]
|
0.000189012
|
|
|
MAFD6
|
[NCBI]
|
0.00017768
|
|
|
renal cysts and diabetes syndrome
|
[NCBI]
|
0.000165066
|
|
|
EGF
|
[NCBI]
|
0.000142586
|
|
|
VEGF
|
[NCBI]
|
0.000139938
|
|
|
MFS
|
[NCBI]
|
0.000136966
|
|
|
CF
|
[NCBI]
|
0.000136625
|
|
|
HPS
|
[NCBI]
|
0.000128349
|
|
|
IDDM
|
[NCBI]
|
0.000124222
|
|
|
USH2A
|
[NCBI]
|
0.000123358
|
|
|
STHAG1
|
[NCBI]
|
0.000123344
|
|
|
LGMD2F
|
[NCBI]
|
0.000123344
|
|
|
naxos disease
|
[NCBI]
|
0.000123344
|
|
|
HNF1B
|
[NCBI]
|
0.000122513
|
|
|
NEM2
|
[NCBI]
|
0.000116094
|
|
|
dyschromatosis symmetrica hereditaria 1
|
[NCBI]
|
0.000115911
|
|
|
AIS
|
[NCBI]
|
0.000113524
|
|
|
PJS
|
[NCBI]
|
0.000105745
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
0.00010543
|
|
|
growth hormone insensitivity with immunodeficiency
|
[NCBI]
|
0.000104762
|
|
|
cutis laxa, autosomal dominant
|
[NCBI]
|
0.000104762
|
|
|
ATP7B
|
[NCBI]
|
0.000102332
|
|
|
keratosis palmoplantaris striata iii
|
[NCBI]
|
9.96313e-05
|
|
|
MCOPCB5
|
[NCBI]
|
9.96313e-05
|
|
|
erythrokeratodermia, progressive symmetric
|
[NCBI]
|
9.96313e-05
|
|
|
polydactyly, imperforate anus, and vertebral anomalies
|
[NCBI]
|
9.96313e-05
|
|
|
PFMCCD
|
[NCBI]
|
9.96313e-05
|
|
|
CATCN3
|
[NCBI]
|
9.96313e-05
|
|
|
DFNA28
|
[NCBI]
|
9.96313e-05
|
|
|
oligodontia-colorectal cancer syndrome
|
[NCBI]
|
9.96313e-05
|
|
|
phosphoserine aminotransferase deficiency
|
[NCBI]
|
9.96313e-05
|
|
|
DFNB36
|
[NCBI]
|
9.96313e-05
|
|
|
seborrhea-like dermatitis with psoriasiform elements
|
[NCBI]
|
9.96313e-05
|
|
|
BDC
|
[NCBI]
|
9.60601e-05
|
|
|
BCNS
|
[NCBI]
|
9.59068e-05
|
|
|
THC1
|
[NCBI]
|
9.23682e-05
|
|
|
CYLD
|
[NCBI]
|
9.23682e-05
|
|
|
MCDC1
|
[NCBI]
|
9.23682e-05
|
|
|
RHS
|
[NCBI]
|
9.23682e-05
|
|
|
mulibrey nanism
|
[NCBI]
|
8.90117e-05
|
|
|
MECP2
|
[NCBI]
|
8.8244e-05
|
|
|
porphyria, acute intermittent
|
[NCBI]
|
8.65658e-05
|
|
|
NGFB
|
[NCBI]
|
8.65252e-05
|
|
|
GCCD1
|
[NCBI]
|
8.59363e-05
|
|
|
SGD
|
[NCBI]
|
8.59363e-05
|
|
|
JLNS1
|
[NCBI]
|
8.59363e-05
|
|
|
APS1
|
[NCBI]
|
8.3592e-05
|
|
|
GDF5
|
[NCBI]
|
8.35182e-05
|
|
|
mowat-wilson syndrome
|
[NCBI]
|
8.31002e-05
|
|
|
lipoid congenital adrenal hyperplasia
|
[NCBI]
|
8.31002e-05
|
|
|
danon disease
|
[NCBI]
|
8.31002e-05
|
|
|
CD
|
[NCBI]
|
8.05425e-05
|
|
|
CCM
|
[NCBI]
|
7.81638e-05
|
|
|
CORD2
|
[NCBI]
|
7.80192e-05
|
|
|
EEC3
|
[NCBI]
|
7.80192e-05
|
|
|
neuropathy, congenital hypomyelinating
|
[NCBI]
|
7.80192e-05
|
|
|
giant platelet syndrome
|
[NCBI]
|
7.76481e-05
|
|
|
PCCB
|
[NCBI]
|
7.68129e-05
|
|
|
MTM1
|
[NCBI]
|
7.49712e-05
|
|
|
LOCS
|
[NCBI]
|
7.19964e-05
|
|
|
SIDDT
|
[NCBI]
|
7.19964e-05
|
|
|
MEN4
|
[NCBI]
|
7.19964e-05
|
|
|
ASD2
|
[NCBI]
|
7.19964e-05
|
|
|
MYH16
|
[NCBI]
|
7.19964e-05
|
|
|
epidermolysis bullosa simplex with migratory circinate erythema
|
[NCBI]
|
7.19964e-05
|
|
|
AIRE
|
[NCBI]
|
7.02201e-05
|
|
|
GLC3A
|
[NCBI]
|
6.96238e-05
|
|
|
APL
|
[NCBI]
|
6.96238e-05
|
|
|
PTH
|
[NCBI]
|
6.92706e-05
|
|
|
SMS
|
[NCBI]
|
6.91678e-05
|
|
|
BRCA1
|
[NCBI]
|
6.85973e-05
|
|
|
NF2
|
[NCBI]
|
6.68318e-05
|
|
|
apc gene
|
[NCBI]
|
6.65722e-05
|
|
|
PBD
|
[NCBI]
|
6.28684e-05
|
|
|
MRXHF1
|
[NCBI]
|
6.28684e-05
|
|
|
NF1
|
[NCBI]
|
6.27762e-05
|
|
|
EGFR
|
[NCBI]
|
6.25723e-05
|
|
|
stapes ankylosis with broad thumb and toes
|
[NCBI]
|
6.16524e-05
|
|
|
phosphoglycerate dehydrogenase deficiency
|
[NCBI]
|
6.16524e-05
|
|
|
DFNB67
|
[NCBI]
|
6.16524e-05
|
|
|
ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis
|
[NCBI]
|
6.16524e-05
|
|
|
mullerian aplasia
|
[NCBI]
|
6.16524e-05
|
|
|
DFNB21
|
[NCBI]
|
6.16524e-05
|
|
|
PFIC3
|
[NCBI]
|
6.16524e-05
|
|
|
SCA11
|
[NCBI]
|
6.16524e-05
|
|
|
ARVD11
|
[NCBI]
|
6.16524e-05
|
|
|
proopiomelanocortin deficiency
|
[NCBI]
|
6.16524e-05
|
|
|
spondyloepiphyseal dysplasia, kimberley type
|
[NCBI]
|
6.16524e-05
|
|
|
LCA4
|
[NCBI]
|
6.16524e-05
|
|
|
diabetes insipidus, nephrogenic, x-linked
|
[NCBI]
|
6.13705e-05
|
|
|
atypical mycobacteriosis, familial
|
[NCBI]
|
6.13705e-05
|
|
|
LCA1
|
[NCBI]
|
6.13705e-05
|
|
|
TRAPPC2
|
[NCBI]
|
5.8959e-05
|
|
|
RAI1
|
[NCBI]
|
5.8959e-05
|
|
|
HSCR1
|
[NCBI]
|
5.88097e-05
|
|
|
NOD2
|
[NCBI]
|
5.8785e-05
|
|
|
PHS
|
[NCBI]
|
5.85629e-05
|
|
|
CFTR
|
[NCBI]
|
5.68479e-05
|
|
|
SMN1
|
[NCBI]
|
5.55951e-05
|
|
|
LYST
|
[NCBI]
|
5.51634e-05
|
|
|
ZEB2
|
[NCBI]
|
5.51634e-05
|
|
|
laurence-moon syndrome
|
[NCBI]
|
5.49837e-05
|
|
|
HPE5
|
[NCBI]
|
5.49837e-05
|
|
|
heterotaxy, visceral, 2, autosomal
|
[NCBI]
|
5.49837e-05
|
|
|
ARMD2
|
[NCBI]
|
5.49837e-05
|
|
|
simpson-golabi-behmel syndrome, type 2
|
[NCBI]
|
5.49837e-05
|
|
|
acth deficiency
|
[NCBI]
|
5.49837e-05
|
|
|
bleeding disorder due to p2ry12 defect
|
[NCBI]
|
5.49837e-05
|
|
|
LCA5
|
[NCBI]
|
5.49837e-05
|
|
|
SCA27
|
[NCBI]
|
5.49837e-05
|
|
|
pelizaeus-merzbacher-like disease, autosomal recessive, 1
|
[NCBI]
|
5.49837e-05
|
|
|
myasthenia, limb-girdle, familial
|
[NCBI]
|
5.49837e-05
|
|
|
DFNB59
|
[NCBI]
|
5.49837e-05
|
|
|
RP19
|
[NCBI]
|
5.49837e-05
|
|
|
pancreatic agenesis, congenital
|
[NCBI]
|
5.49837e-05
|
|
|
papilloma of choroid plexus
|
[NCBI]
|
5.49837e-05
|
|
|
spondyloperipheral dysplasia
|
[NCBI]
|
5.49837e-05
|
|
|
isobutyryl-coa dehydrogenase deficiency
|
[NCBI]
|
5.49837e-05
|
|
|
charcot-marie-tooth disease, axonal, with vocal cord paresis, autosomal recessive
|
[NCBI]
|
5.49837e-05
|
|
|
RD
|
[NCBI]
|
5.49837e-05
|
|
|
SPG7
|
[NCBI]
|
5.49837e-05
|
|
|
DPR
|
[NCBI]
|
5.49837e-05
|
|
|
USH2A
|
[NCBI]
|
5.40638e-05
|
|
|
LS
|
[NCBI]
|
5.40058e-05
|
|
|
wilson disease
|
[NCBI]
|
5.27515e-05
|
|
|
TYR
|
[NCBI]
|
5.24323e-05
|
|
|
KRIT1
|
[NCBI]
|
5.20559e-05
|
|
|
GNAS
|
[NCBI]
|
5.18965e-05
|
|
|
NPY6R
|
[NCBI]
|
5.155e-05
|
|
|
EVA
|
[NCBI]
|
5.1352e-05
|
|
|
myoclonic dystonia
|
[NCBI]
|
5.1352e-05
|
|
|
MSH2
|
[NCBI]
|
5.09119e-05
|
|
|
TBS
|
[NCBI]
|
5.02943e-05
|
|
|
TBX5
|
[NCBI]
|
5.02592e-05
|
|
|
neurofibromatosis, familial spinal
|
[NCBI]
|
5.00605e-05
|
|
|
RCDP3
|
[NCBI]
|
5.00605e-05
|
|
|
hyperprolinemia, type ii
|
[NCBI]
|
5.00605e-05
|
|
|
mucopolysaccharidosis type iiid
|
[NCBI]
|
5.00605e-05
|
|
|
muscle glycogenosis, x-linked
|
[NCBI]
|
5.00605e-05
|
|
|
granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type ii
|
[NCBI]
|
5.00605e-05
|
|
|
pseudohypoaldosteronism, type i, autosomal dominant
|
[NCBI]
|
5.00605e-05
|
|
|
robinow-sorauf syndrome
|
[NCBI]
|
5.00605e-05
|
|
|
VF
|
[NCBI]
|
5.00605e-05
|
|
|
mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance
|
[NCBI]
|
5.00605e-05
|
|
|
enterokinase deficiency
|
[NCBI]
|
5.00605e-05
|
|
|
follicle-stimulating hormone deficiency, isolated
|
[NCBI]
|
5.00605e-05
|
|
|
CSCD
|
[NCBI]
|
5.00605e-05
|
|
|
epidermolysis bullosa herpetiformis, dowling-meara type
|
[NCBI]
|
5.00605e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-positive
|
[NCBI]
|
5.00605e-05
|
|
|
retinitis pigmentosa, x-linked, with recurrent respiratory infections
|
[NCBI]
|
5.00605e-05
|
|
|
OPTB5
|
[NCBI]
|
5.00605e-05
|
|
|
CDHS
|
[NCBI]
|
5.00605e-05
|
|
|
RPGR
|
[NCBI]
|
4.97062e-05
|
|
|
CHS
|
[NCBI]
|
4.94533e-05
|
|
|
KRT1
|
[NCBI]
|
4.94273e-05
|
|
|
NPY
|
[NCBI]
|
4.92506e-05
|
|
|
KCNQ1
|
[NCBI]
|
4.89382e-05
|
|
|
GJB2
|
[NCBI]
|
4.8891e-05
|
|
|
UBE3A
|
[NCBI]
|
4.86342e-05
|
|
|
CYP1B1
|
[NCBI]
|
4.86342e-05
|
|
|
PKD2
|
[NCBI]
|
4.85643e-05
|
|
|
ATS
|
[NCBI]
|
4.8281e-05
|
|
|
PRDM2
|
[NCBI]
|
4.80448e-05
|
|
|
ELN
|
[NCBI]
|
4.71306e-05
|
|
|
EXT1
|
[NCBI]
|
4.64561e-05
|
|
|
MTM1
|
[NCBI]
|
4.64561e-05
|
|
|
stickler syndrome, type i, nonsyndromic ocular
|
[NCBI]
|
4.61655e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative
|
[NCBI]
|
4.61655e-05
|
|
|
osseous heteroplasia, progressive
|
[NCBI]
|
4.61655e-05
|
|
|
DFNB8
|
[NCBI]
|
4.61655e-05
|
|
|
RCDP2
|
[NCBI]
|
4.61655e-05
|
|
|
DFNB18
|
[NCBI]
|
4.61655e-05
|
|
|
LIS2
|
[NCBI]
|
4.61655e-05
|
|
|
goldberg-shprintzen megacolon syndrome
|
[NCBI]
|
4.61655e-05
|
|
|
DFNA1
|
[NCBI]
|
4.61655e-05
|
|
|
HPE4
|
[NCBI]
|
4.61655e-05
|
|
|
CGL1
|
[NCBI]
|
4.61655e-05
|
|
|
FANCD1
|
[NCBI]
|
4.61655e-05
|
|
|
DFNB10
|
[NCBI]
|
4.61655e-05
|
|
|
OCA4
|
[NCBI]
|
4.61655e-05
|
|
|
SMDP2
|
[NCBI]
|
4.61655e-05
|
|
|
FPLD3
|
[NCBI]
|
4.61655e-05
|
|
|
intestinal pseudoobstruction, neuronal, chronic idiopathic, x-linked
|
[NCBI]
|
4.61655e-05
|
|
|
oguchi disease
|
[NCBI]
|
4.61655e-05
|
|
|
SMEI
|
[NCBI]
|
4.54895e-05
|
|
|
HSN2
|
[NCBI]
|
4.53632e-05
|
|
|
TRIM37
|
[NCBI]
|
4.53632e-05
|
|
|
BRCA2
|
[NCBI]
|
4.49743e-05
|
|
|
TSC2
|
[NCBI]
|
4.48329e-05
|
|
|
MC4R
|
[NCBI]
|
4.48329e-05
|
|
|
SPTB
|
[NCBI]
|
4.45276e-05
|
|
|
DPYD
|
[NCBI]
|
4.33552e-05
|
|
|
EDN3
|
[NCBI]
|
4.33552e-05
|
|
|
TGFBR2
|
[NCBI]
|
4.33552e-05
|
|
|
MSH6
|
[NCBI]
|
4.33552e-05
|
|
|
ESPN
|
[NCBI]
|
4.31887e-05
|
|
|
atrial septal defect with atrioventricular conduction defects
|
[NCBI]
|
4.29498e-05
|
|
|
acromesomelic dysplasia, hunter-thompson type
|
[NCBI]
|
4.29498e-05
|
|
|
polymicrogyria, bilateral frontoparietal
|
[NCBI]
|
4.29498e-05
|
|
|
naegeli syndrome
|
[NCBI]
|
4.29498e-05
|
|
|
F5F8D
|
[NCBI]
|
4.29498e-05
|
|
|
FHL2
|
[NCBI]
|
4.29498e-05
|
|
|
MCOPS9
|
[NCBI]
|
4.29498e-05
|
|
|
ALD
|
[NCBI]
|
4.24954e-05
|
|
|
GFAP
|
[NCBI]
|
4.23827e-05
|
|
|
KRT5
|
[NCBI]
|
4.22599e-05
|
|
|
sotos syndrome
|
[NCBI]
|
4.13492e-05
|
|
|
ALGS1
|
[NCBI]
|
4.13492e-05
|
|
|
EPO
|
[NCBI]
|
4.10881e-05
|
|
|
AVPR2
|
[NCBI]
|
4.02653e-05
|
|
|
mal de meleda
|
[NCBI]
|
4.02169e-05
|
|
|
proteinuria, low molecular weight, with hypercalciuria and nephrocalcinosis
|
[NCBI]
|
4.02169e-05
|
|
|
FANCB
|
[NCBI]
|
4.02169e-05
|
|
|
EBS-MP
|
[NCBI]
|
4.02169e-05
|
|
|
chondrodysplasia, grebe type
|
[NCBI]
|
4.02169e-05
|
|
|
SC
|
[NCBI]
|
4.02169e-05
|
|
|
aceruloplasminemia
|
[NCBI]
|
4.02169e-05
|
|
|
desmoid disease, hereditary
|
[NCBI]
|
4.02169e-05
|
|
|
ATP7A
|
[NCBI]
|
3.98022e-05
|
|
|
MKKS
|
[NCBI]
|
3.97804e-05
|
|
|
PWS
|
[NCBI]
|
3.97287e-05
|
|
|
FANCC
|
[NCBI]
|
3.93518e-05
|
|
|
HNF1A
|
[NCBI]
|
3.9152e-05
|
|
|
BRRS
|
[NCBI]
|
3.91224e-05
|
|
|
currarino syndrome
|
[NCBI]
|
3.78451e-05
|
|
|
CLPED1
|
[NCBI]
|
3.78451e-05
|
|
|
IHCM
|
[NCBI]
|
3.78451e-05
|
|
|
mucolipidosis iii, complementation group c
|
[NCBI]
|
3.78451e-05
|
|
|
DDD
|
[NCBI]
|
3.78451e-05
|
|
|
sc phocomelia syndrome
|
[NCBI]
|
3.78451e-05
|
|
|
SYM1
|
[NCBI]
|
3.78451e-05
|
|
|
carnitine palmitoyltransferase ii deficiency, lethal neonatal
|
[NCBI]
|
3.78451e-05
|
|
|
SYNS1
|
[NCBI]
|
3.78451e-05
|
|
|
ABCA4
|
[NCBI]
|
3.76652e-05
|
|
|
LAMA3
|
[NCBI]
|
3.71533e-05
|
|
|
HPS1
|
[NCBI]
|
3.60353e-05
|
|
|
PAX9
|
[NCBI]
|
3.60353e-05
|
|
|
NETH
|
[NCBI]
|
3.57535e-05
|
|
|
kindler syndrome
|
[NCBI]
|
3.57535e-05
|
|
|
schwannomatosis
|
[NCBI]
|
3.57535e-05
|
|
|
PKD3
|
[NCBI]
|
3.57535e-05
|
|
|
MCPH5
|
[NCBI]
|
3.57535e-05
|
|
|
ankyloblepharon-ectodermal defects-cleft lip/palate
|
[NCBI]
|
3.57535e-05
|
|
|
liddle syndrome
|
[NCBI]
|
3.57535e-05
|
|
|
BBS
|
[NCBI]
|
3.5292e-05
|
|
|
OCRL
|
[NCBI]
|
3.5017e-05
|
|
|
ART4
|
[NCBI]
|
3.5017e-05
|
|
|
SGCD
|
[NCBI]
|
3.5017e-05
|
|
|
PMP22
|
[NCBI]
|
3.45163e-05
|
|
|
UBB
|
[NCBI]
|
3.40821e-05
|
|
|
GRHL2
|
[NCBI]
|
3.39993e-05
|
|
|
P2RY5
|
[NCBI]
|
3.39993e-05
|
|
|
ZNF750
|
[NCBI]
|
3.39993e-05
|
|
|
MODY3
|
[NCBI]
|
3.38857e-05
|
|
|
ASMD
|
[NCBI]
|
3.38857e-05
|
|
|
HNPCC2
|
[NCBI]
|
3.38857e-05
|
|
|
BDB1
|
[NCBI]
|
3.38857e-05
|
|
|
XPV
|
[NCBI]
|
3.38857e-05
|
|
|
DFNA12
|
[NCBI]
|
3.38857e-05
|
|
|
LQT1
|
[NCBI]
|
3.3351e-05
|
|
|
PKD1
|
[NCBI]
|
3.32595e-05
|
|
|
SMARCB1
|
[NCBI]
|
3.32183e-05
|
|
|
POLH
|
[NCBI]
|
3.32183e-05
|
|
|
SALL1
|
[NCBI]
|
3.32183e-05
|
|
|
HOS
|
[NCBI]
|
3.27805e-05
|
|
|
LOR
|
[NCBI]
|
3.24157e-05
|
|
|
HBB
|
[NCBI]
|
3.24066e-05
|
|
|
RDT
|
[NCBI]
|
3.22225e-05
|
|
|
encephalopathy, neonatal severe, due to mecp2 mutations
|
[NCBI]
|
3.22009e-05
|
|
|
CMT4A
|
[NCBI]
|
3.22009e-05
|
|
|
SEDT
|
[NCBI]
|
3.22009e-05
|
|
|
lipoid proteinosis of urbach and wiethe
|
[NCBI]
|
3.22009e-05
|
|
|
RET
|
[NCBI]
|
3.14203e-05
|
|
|
CRX
|
[NCBI]
|
3.09637e-05
|
|
|
NSD1
|
[NCBI]
|
3.09637e-05
|
|
|
indifference to pain, congenital, autosomal recessive
|
[NCBI]
|
3.06685e-05
|
|
|
RENS1
|
[NCBI]
|
3.06685e-05
|
|
|
adult syndrome
|
[NCBI]
|
3.06685e-05
|
|
|
pick disease of brain
|
[NCBI]
|
3.06685e-05
|
|
|
papillorenal syndrome
|
[NCBI]
|
3.06685e-05
|
|
|
septooptic dysplasia
|
[NCBI]
|
3.06685e-05
|
|
|
porphyria variegata
|
[NCBI]
|
3.06182e-05
|
|
|
SVAS
|
[NCBI]
|
3.06182e-05
|
|
|
PFKM
|
[NCBI]
|
3.03024e-05
|
|
|
SURF1
|
[NCBI]
|
3.03024e-05
|
|
|
SGCE
|
[NCBI]
|
2.96781e-05
|
|
|
LGMD2I
|
[NCBI]
|
2.92649e-05
|
|
|
MODY1
|
[NCBI]
|
2.92649e-05
|
|
|
mucopolysaccharidosis type iiic
|
[NCBI]
|
2.92649e-05
|
|
|
BHD
|
[NCBI]
|
2.92649e-05
|
|
|
ARVD1
|
[NCBI]
|
2.92649e-05
|
|
|
USH1C
|
[NCBI]
|
2.92649e-05
|
|
|
PAX3
|
[NCBI]
|
2.91782e-05
|
|
|
NEB
|
[NCBI]
|
2.90868e-05
|
|
|
PHOX2B
|
[NCBI]
|
2.90868e-05
|
|
|
AMELX
|
[NCBI]
|
2.90868e-05
|
|
|
SFTPB
|
[NCBI]
|
2.90868e-05
|
|
|
MODY
|
[NCBI]
|
2.9044e-05
|
|
|
HMBS
|
[NCBI]
|
2.88903e-05
|
|
|
WIPF1
|
[NCBI]
|
2.85254e-05
|
|
|
XK
|
[NCBI]
|
2.85254e-05
|
|
|
PTEN
|
[NCBI]
|
2.82078e-05
|
|
|
ADAMTS13
|
[NCBI]
|
2.79911e-05
|
|
|
MC2R
|
[NCBI]
|
2.79911e-05
|
|
|
EBP
|
[NCBI]
|
2.79911e-05
|
|
|
GAN1
|
[NCBI]
|
2.79717e-05
|
|
|
lymphedema-distichiasis syndrome
|
[NCBI]
|
2.79717e-05
|
|
|
MTS
|
[NCBI]
|
2.79717e-05
|
|
|
LMS
|
[NCBI]
|
2.79717e-05
|
|
|
ichthyosis congenita, harlequin fetus type
|
[NCBI]
|
2.79717e-05
|
|
|
MCPH1
|
[NCBI]
|
2.79717e-05
|
|
|
HPE3
|
[NCBI]
|
2.79717e-05
|
|
|
TCOF1
|
[NCBI]
|
2.74814e-05
|
|
|
exostoses, multiple, type ii
|
[NCBI]
|
2.67741e-05
|
|
|
TTP
|
[NCBI]
|
2.67741e-05
|
|
|
PFM
|
[NCBI]
|
2.67741e-05
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
2.67741e-05
|
|
|
HSAN2
|
[NCBI]
|
2.67741e-05
|
|
|
AFP
|
[NCBI]
|
2.66677e-05
|
|
|
factor v deficiency
|
[NCBI]
|
2.66075e-05
|
|
|
PAX2
|
[NCBI]
|
2.60806e-05
|
|
|
SCN1A
|
[NCBI]
|
2.60806e-05
|
|
|
CDKN1C
|
[NCBI]
|
2.60806e-05
|
|
|
DOK7
|
[NCBI]
|
2.57713e-05
|
|
|
PTPN14
|
[NCBI]
|
2.57713e-05
|
|
|
TES
|
[NCBI]
|
2.57713e-05
|
|
|
proapoptotic caspase adaptor protein
|
[NCBI]
|
2.57713e-05
|
|
|
BLOC1S3
|
[NCBI]
|
2.57713e-05
|
|
|
HYDIN
|
[NCBI]
|
2.57713e-05
|
|
|
TSPYL1
|
[NCBI]
|
2.57713e-05
|
|
|
PNMA3
|
[NCBI]
|
2.57713e-05
|
|
|
MKKS
|
[NCBI]
|
2.56602e-05
|
|
|
acromegaly
|
[NCBI]
|
2.56602e-05
|
|
|
ICP
|
[NCBI]
|
2.56602e-05
|
|
|
crigler-najjar syndrome
|
[NCBI]
|
2.56602e-05
|
|
|
alkaptonuria
|
[NCBI]
|
2.56602e-05
|
|
|
CIPA
|
[NCBI]
|
2.56602e-05
|
|
|
blood group, p system
|
[NCBI]
|
2.56602e-05
|
|
|
AHDS
|
[NCBI]
|
2.56602e-05
|
|
|
SLC22A5
|
[NCBI]
|
2.5651e-05
|
|
|
OPA1
|
[NCBI]
|
2.5651e-05
|
|
|
osteogenesis imperfecta, type i
|
[NCBI]
|
2.55022e-05
|
|
|
CHRNE
|
[NCBI]
|
2.52377e-05
|
|
|
MUT
|
[NCBI]
|
2.52377e-05
|
|
|
PTCH1
|
[NCBI]
|
2.52377e-05
|
|
|
ARSB
|
[NCBI]
|
2.48396e-05
|
|
|
KRT14
|
[NCBI]
|
2.48396e-05
|
|
|
COL2A1
|
[NCBI]
|
2.47612e-05
|
|
|
FBS
|
[NCBI]
|
2.46201e-05
|
|
|
SHEP2
|
[NCBI]
|
2.46201e-05
|
|
|
pituitary dwarfism i
|
[NCBI]
|
2.46201e-05
|
|
|
TP73L
|
[NCBI]
|
2.44556e-05
|
|
|
MEN1
|
[NCBI]
|
2.44185e-05
|
|
|
MPZ
|
[NCBI]
|
2.44185e-05
|
|
|
ALPL
|
[NCBI]
|
2.37267e-05
|
|
|
GCH1
|
[NCBI]
|
2.37267e-05
|
|
|
acyl-coa dehydrogenase, very long-chain, deficiency of
|
[NCBI]
|
2.36456e-05
|
|
|
brugada syndrome 1
|
[NCBI]
|
2.36456e-05
|
|
|
GEFS+
|
[NCBI]
|
2.36456e-05
|
|
|
ESCS
|
[NCBI]
|
2.36456e-05
|
|
|
NPHP1
|
[NCBI]
|
2.36456e-05
|
|
|
adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency
|
[NCBI]
|
2.34251e-05
|
|
|
COL10A1
|
[NCBI]
|
2.338e-05
|
|
|
WRN
|
[NCBI]
|
2.27566e-05
|
|
|
FTD
|
[NCBI]
|
2.27499e-05
|
|
|
refsum disease, infantile form
|
[NCBI]
|
2.27297e-05
|
|
|
PSAT1
|
[NCBI]
|
2.2678e-05
|
|
|
LHFPL5
|
[NCBI]
|
2.2678e-05
|
|
|
DPYS
|
[NCBI]
|
2.2678e-05
|
|
|
PTPRT
|
[NCBI]
|
2.2678e-05
|
|
|
P2RX5
|
[NCBI]
|
2.2678e-05
|
|
|
TTBK2
|
[NCBI]
|
2.2678e-05
|
|
|
PEX10
|
[NCBI]
|
2.2678e-05
|
|
|
CACNA2D4
|
[NCBI]
|
2.2678e-05
|
|
|
GNPTG
|
[NCBI]
|
2.2678e-05
|
|
|
LCA5
|
[NCBI]
|
2.2678e-05
|
|
|
MIRN24-1
|
[NCBI]
|
2.2678e-05
|
|
|
STAT5B
|
[NCBI]
|
2.24032e-05
|
|
|
OA1
|
[NCBI]
|
2.24032e-05
|
|
|
PIGA
|
[NCBI]
|
2.24032e-05
|
|
|
PRPH2
|
[NCBI]
|
2.20968e-05
|
|
|
ABCC6
|
[NCBI]
|
2.20968e-05
|
|
|
cutis laxa, x-linked
|
[NCBI]
|
2.18666e-05
|
|
|
CGL2
|
[NCBI]
|
2.18666e-05
|
|
|
SLC26A4
|
[NCBI]
|
2.1799e-05
|
|
|
RUNX2
|
[NCBI]
|
2.15094e-05
|
|
|
JAG1
|
[NCBI]
|
2.15094e-05
|
|
|
RECQL2
|
[NCBI]
|
2.15094e-05
|
|
|
NR0B1
|
[NCBI]
|
2.12277e-05
|
|
|
RTD
|
[NCBI]
|
2.10513e-05
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
2.10513e-05
|
|
|
fraser syndrome
|
[NCBI]
|
2.10513e-05
|
|
|
ulcerative colitis, susceptibility to
|
[NCBI]
|
2.10513e-05
|
|
|
CNC1
|
[NCBI]
|
2.10513e-05
|
|
|
deafness, conductive, with stapes fixation
|
[NCBI]
|
2.10513e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
2.10513e-05
|
|
|
EXTL1
|
[NCBI]
|
2.0676e-05
|
|
|
HGSNAT
|
[NCBI]
|
2.0676e-05
|
|
|
STRA6
|
[NCBI]
|
2.0676e-05
|
|
|
HPS3
|
[NCBI]
|
2.0676e-05
|
|
|
PTPN3
|
[NCBI]
|
2.0676e-05
|
|
|
EDG4
|
[NCBI]
|
2.0676e-05
|
|
|
SLITRK1
|
[NCBI]
|
2.0676e-05
|
|
|
pejvakin
|
[NCBI]
|
2.0676e-05
|
|
|
AXIN2
|
[NCBI]
|
2.0676e-05
|
|
|
CYP2C8
|
[NCBI]
|
2.0676e-05
|
|
|
CDX1
|
[NCBI]
|
2.0676e-05
|
|
|
GAN
|
[NCBI]
|
2.0676e-05
|
|
|
NEDD4L
|
[NCBI]
|
2.0676e-05
|
|
|
ATM
|
[NCBI]
|
2.04618e-05
|
|
|
PSNP1
|
[NCBI]
|
2.02794e-05
|
|
|
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
|
[NCBI]
|
2.02794e-05
|
|
|
MLC
|
[NCBI]
|
2.02794e-05
|
|
|
EKV
|
[NCBI]
|
2.02794e-05
|
|
|
glycogen storage disease iii
|
[NCBI]
|
2.02794e-05
|
|
|
diastrophic dysplasia
|
[NCBI]
|
2.02794e-05
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
2.02794e-05
|
|
|
ZS
|
[NCBI]
|
1.96836e-05
|
|
|
biotinidase deficiency
|
[NCBI]
|
1.95471e-05
|
|
|
ATRX
|
[NCBI]
|
1.94458e-05
|
|
|
TNFRSF6
|
[NCBI]
|
1.92149e-05
|
|
|
L1CAM
|
[NCBI]
|
1.92149e-05
|
|
|
ERMAP
|
[NCBI]
|
1.91924e-05
|
|
|
VN1R1
|
[NCBI]
|
1.91924e-05
|
|
|
PRSS7
|
[NCBI]
|
1.91924e-05
|
|
|
FOXE3
|
[NCBI]
|
1.91924e-05
|
|
|
CLN6
|
[NCBI]
|
1.91924e-05
|
|
|
ABCA12
|
[NCBI]
|
1.91924e-05
|
|
|
GDF6
|
[NCBI]
|
1.91924e-05
|
|
|
GPR56
|
[NCBI]
|
1.91924e-05
|
|
|
MAN2A1
|
[NCBI]
|
1.91924e-05
|
|
|
OSTM1
|
[NCBI]
|
1.91924e-05
|
|
|
CALB3
|
[NCBI]
|
1.91924e-05
|
|
|
MALL
|
[NCBI]
|
1.91924e-05
|
|
|
PPP2R1B
|
[NCBI]
|
1.91924e-05
|
|
|
ITGA6
|
[NCBI]
|
1.91924e-05
|
|
|
DIAPH1
|
[NCBI]
|
1.91924e-05
|
|
|
AVP
|
[NCBI]
|
1.91547e-05
|
|
|
NEM3
|
[NCBI]
|
1.88512e-05
|
|
|
AHC
|
[NCBI]
|
1.88512e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
1.88512e-05
|
|
|
hyperekplexia, hereditary
|
[NCBI]
|
1.88512e-05
|
|
|
ODDD
|
[NCBI]
|
1.88512e-05
|
|
|
NTRK1
|
[NCBI]
|
1.87683e-05
|
|
|
TBG
|
[NCBI]
|
1.85522e-05
|
|
|
SCN5A
|
[NCBI]
|
1.81337e-05
|
|
|
OAZ1
|
[NCBI]
|
1.80141e-05
|
|
|
CENPB
|
[NCBI]
|
1.80141e-05
|
|
|
GDF7
|
[NCBI]
|
1.80141e-05
|
|
|
GJC2
|
[NCBI]
|
1.80141e-05
|
|
|
MAD1L1
|
[NCBI]
|
1.80141e-05
|
|
|
SLC30A1
|
[NCBI]
|
1.80141e-05
|
|
|
PRB3
|
[NCBI]
|
1.80141e-05
|
|
|
CFC1
|
[NCBI]
|
1.80141e-05
|
|
|
KCNE2
|
[NCBI]
|
1.80141e-05
|
|
|
FDXR
|
[NCBI]
|
1.80141e-05
|
|
|
PMS1
|
[NCBI]
|
1.80141e-05
|
|
|
NDST1
|
[NCBI]
|
1.80141e-05
|
|
|
AGPAT2
|
[NCBI]
|
1.80141e-05
|
|
|
CHST6
|
[NCBI]
|
1.80141e-05
|
|
|
SRG1
|
[NCBI]
|
1.80141e-05
|
|
|
CHAT
|
[NCBI]
|
1.78793e-05
|
|
|
PROCR
|
[NCBI]
|
1.77321e-05
|
|
|
RCDP1
|
[NCBI]
|
1.7557e-05
|
|
|
OPTB1
|
[NCBI]
|
1.7557e-05
|
|
|
KIT
|
[NCBI]
|
1.75373e-05
|
|
|
ALDH4A1
|
[NCBI]
|
1.70375e-05
|
|
|
HRPT2
|
[NCBI]
|
1.70375e-05
|
|
|
NOXO1
|
[NCBI]
|
1.70375e-05
|
|
|
PPP1R3A
|
[NCBI]
|
1.70375e-05
|
|
|
FANCB
|
[NCBI]
|
1.70375e-05
|
|
|
GAB1
|
[NCBI]
|
1.70375e-05
|
|
|
P2RY12
|
[NCBI]
|
1.70375e-05
|
|
|
PTPN13
|
[NCBI]
|
1.70375e-05
|
|
|
ESCO2
|
[NCBI]
|
1.70375e-05
|
|
|
DIAPH2
|
[NCBI]
|
1.70375e-05
|
|
|
usher syndrome, type i
|
[NCBI]
|
1.69539e-05
|
|
|
TS
|
[NCBI]
|
1.69414e-05
|
|
|
ALPS
|
[NCBI]
|
1.67602e-05
|
|
|
VHL
|
[NCBI]
|
1.64923e-05
|
|
|
STGD1
|
[NCBI]
|
1.63773e-05
|
|
|
RP1
|
[NCBI]
|
1.63773e-05
|
|
|
GNS
|
[NCBI]
|
1.62043e-05
|
|
|
PROM1
|
[NCBI]
|
1.62043e-05
|
|
|
PTPRG
|
[NCBI]
|
1.62043e-05
|
|
|
ALX4
|
[NCBI]
|
1.62043e-05
|
|
|
TMPRSS3
|
[NCBI]
|
1.62043e-05
|
|
|
CRYBB1
|
[NCBI]
|
1.62043e-05
|
|
|
NT5C3
|
[NCBI]
|
1.62043e-05
|
|
|
PSPH
|
[NCBI]
|
1.62043e-05
|
|
|
GNAT2
|
[NCBI]
|
1.62043e-05
|
|
|
STL1
|
[NCBI]
|
1.58254e-05
|
|
|
FGF14
|
[NCBI]
|
1.54783e-05
|
|
|
GRHPR
|
[NCBI]
|
1.54783e-05
|
|
|
CD3D
|
[NCBI]
|
1.54783e-05
|
|
|
OPHN1
|
[NCBI]
|
1.54783e-05
|
|
|
DSC2
|
[NCBI]
|
1.54783e-05
|
|
|
DDB2
|
[NCBI]
|
1.54783e-05
|
|
|
TDGF1
|
[NCBI]
|
1.54783e-05
|
|
|
BSCL2
|
[NCBI]
|
1.54783e-05
|
|
|
NR5A1
|
[NCBI]
|
1.53082e-05
|
|
|
protein c deficiency, congenital thrombotic disease due to
|
[NCBI]
|
1.53082e-05
|
|
|
LGMD2C
|
[NCBI]
|
1.52966e-05
|
|
|
RBS
|
[NCBI]
|
1.52966e-05
|
|
|
hemophilia a
|
[NCBI]
|
1.52056e-05
|
|
|
ABCD1
|
[NCBI]
|
1.50074e-05
|
|
|
CEBPE
|
[NCBI]
|
1.48355e-05
|
|
|
PEX12
|
[NCBI]
|
1.48355e-05
|
|
|
TRPS1
|
[NCBI]
|
1.48355e-05
|
|
|
CNGB3
|
[NCBI]
|
1.48355e-05
|
|
|
ZIC2
|
[NCBI]
|
1.48355e-05
|
|
|
PTPRF
|
[NCBI]
|
1.48355e-05
|
|
|
AGC1
|
[NCBI]
|
1.48355e-05
|
|
|
MBD4
|
[NCBI]
|
1.48355e-05
|
|
|
EYA4
|
[NCBI]
|
1.48355e-05
|
|
|
A4GALT
|
[NCBI]
|
1.48355e-05
|
|
|
PHKA1
|
[NCBI]
|
1.48355e-05
|
|
|
flaujeac factor deficiency
|
[NCBI]
|
1.48355e-05
|
|
|
CD3E
|
[NCBI]
|
1.48355e-05
|
|
|
LMAN1
|
[NCBI]
|
1.48355e-05
|
|
|
SFN
|
[NCBI]
|
1.48355e-05
|
|
|
SGBS1
|
[NCBI]
|
1.47893e-05
|
|
|
human immunodeficiency virus type 1, susceptibility to
|
[NCBI]
|
1.47893e-05
|
|
|
DJS
|
[NCBI]
|
1.47893e-05
|
|
|
cystinuria
|
[NCBI]
|
1.47893e-05
|
|
|
APP
|
[NCBI]
|
1.47129e-05
|
|
|
THRB
|
[NCBI]
|
1.45738e-05
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
1.43022e-05
|
|
|
glycogen storage disease vii
|
[NCBI]
|
1.43022e-05
|
|
|
FGA
|
[NCBI]
|
1.42957e-05
|
|
|
PAX6
|
[NCBI]
|
1.42957e-05
|
|
|
RP
|
[NCBI]
|
1.42952e-05
|
|
|
SGCG
|
[NCBI]
|
1.42592e-05
|
|
|
CYP27A1
|
[NCBI]
|
1.42592e-05
|
|
|
CYLD1
|
[NCBI]
|
1.42592e-05
|
|
|
NPHP1
|
[NCBI]
|
1.42592e-05
|
|
|
HESX1
|
[NCBI]
|
1.42592e-05
|
|
|
PPP2R4
|
[NCBI]
|
1.42592e-05
|
|
|
PEX1
|
[NCBI]
|
1.42592e-05
|
|
|
ATP2B2
|
[NCBI]
|
1.42592e-05
|
|
|
TGIF
|
[NCBI]
|
1.42592e-05
|
|
|
CBFB
|
[NCBI]
|
1.42592e-05
|
|
|
PLEC1
|
[NCBI]
|
1.42592e-05
|
|
|
STAR
|
[NCBI]
|
1.38628e-05
|
|
|
SPG4
|
[NCBI]
|
1.38341e-05
|
|
|
CXORF5
|
[NCBI]
|
1.37373e-05
|
|
|
MSH3
|
[NCBI]
|
1.37373e-05
|
|
|
SCN8A
|
[NCBI]
|
1.37373e-05
|
|
|
SLC7A9
|
[NCBI]
|
1.37373e-05
|
|
|
MLC1
|
[NCBI]
|
1.37373e-05
|
|
|
SAG
|
[NCBI]
|
1.37373e-05
|
|
|
MERTK
|
[NCBI]
|
1.37373e-05
|
|
|
POLB
|
[NCBI]
|
1.37373e-05
|
|
|
IL12RB1
|
[NCBI]
|
1.37373e-05
|
|
|
TIMM8A
|
[NCBI]
|
1.37373e-05
|
|
|
ASPM
|
[NCBI]
|
1.37373e-05
|
|
|
FLCN
|
[NCBI]
|
1.37373e-05
|
|
|
OCA2
|
[NCBI]
|
1.33839e-05
|
|
|
MM
|
[NCBI]
|
1.33839e-05
|
|
|
campomelic dysplasia
|
[NCBI]
|
1.33839e-05
|
|
|
SIX3
|
[NCBI]
|
1.32606e-05
|
|
|
ZAP70
|
[NCBI]
|
1.32606e-05
|
|
|
COL6A2
|
[NCBI]
|
1.32606e-05
|
|
|
AEBP1
|
[NCBI]
|
1.32606e-05
|
|
|
SPINK5
|
[NCBI]
|
1.32606e-05
|
|
|
TREX1
|
[NCBI]
|
1.32606e-05
|
|
|
diphosphoglycerate mutase deficiency of erythrocyte
|
[NCBI]
|
1.32606e-05
|
|
|
LDLR
|
[NCBI]
|
1.32376e-05
|
|
|
LPL
|
[NCBI]
|
1.32226e-05
|
|
|
GCPS
|
[NCBI]
|
1.29505e-05
|
|
|
WFS1
|
[NCBI]
|
1.29505e-05
|
|
|
CMTX1
|
[NCBI]
|
1.29505e-05
|
|
|
MTP
|
[NCBI]
|
1.28221e-05
|
|
|
CYP3A5
|
[NCBI]
|
1.28221e-05
|
|
|
SFTPC
|
[NCBI]
|
1.28221e-05
|
|
|
DUOX2
|
[NCBI]
|
1.28221e-05
|
|
|
TCIRG1
|
[NCBI]
|
1.28221e-05
|
|
|
MSX2
|
[NCBI]
|
1.28221e-05
|
|
|
FEN1
|
[NCBI]
|
1.28221e-05
|
|
|
HGD
|
[NCBI]
|
1.28221e-05
|
|
|
CRYGA
|
[NCBI]
|
1.28221e-05
|
|
|
NCF2
|
[NCBI]
|
1.28221e-05
|
|
|
ABCB4
|
[NCBI]
|
1.28221e-05
|
|
|
PVRL1
|
[NCBI]
|
1.28221e-05
|
|
|
CDG1A
|
[NCBI]
|
1.2533e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
1.2533e-05
|
|
|
GBA
|
[NCBI]
|
1.24466e-05
|
|
|
PRPH
|
[NCBI]
|
1.24164e-05
|
|
|
AGTR2
|
[NCBI]
|
1.24164e-05
|
|
|
ADAR
|
[NCBI]
|
1.24164e-05
|
|
|
TECTA
|
[NCBI]
|
1.24164e-05
|
|
|
PRX
|
[NCBI]
|
1.24164e-05
|
|
|
CLDN1
|
[NCBI]
|
1.24164e-05
|
|
|
CACNA1F
|
[NCBI]
|
1.24164e-05
|
|
|
JUP
|
[NCBI]
|
1.24164e-05
|
|
|
FSHB
|
[NCBI]
|
1.24164e-05
|
|
|
BTD
|
[NCBI]
|
1.24164e-05
|
|
|
TNFSF6
|
[NCBI]
|
1.2147e-05
|
|
|
PDS
|
[NCBI]
|
1.21305e-05
|
|
|
myoclonic epilepsy of unverricht and lundborg
|
[NCBI]
|
1.21305e-05
|
|
|
aHUS
|
[NCBI]
|
1.21305e-05
|
|
|
SPG3A
|
[NCBI]
|
1.20391e-05
|
|
|
AGL
|
[NCBI]
|
1.20391e-05
|
|
|
PRDM1
|
[NCBI]
|
1.20391e-05
|
|
|
CRB1
|
[NCBI]
|
1.20391e-05
|
|
|
TNFRSF11A
|
[NCBI]
|
1.20391e-05
|
|
|
GDAP1
|
[NCBI]
|
1.20391e-05
|
|
|
SLC26A3
|
[NCBI]
|
1.20391e-05
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
1.17424e-05
|
|
|
BEST1
|
[NCBI]
|
1.16867e-05
|
|
|
SCN9A
|
[NCBI]
|
1.16867e-05
|
|
|
THBD
|
[NCBI]
|
1.16867e-05
|
|
|
FLG
|
[NCBI]
|
1.16867e-05
|
|
|
ATXN3
|
[NCBI]
|
1.16867e-05
|
|
|
APOE
|
[NCBI]
|
1.16637e-05
|
|
|
MTS
|
[NCBI]
|
1.13677e-05
|
|
|
ROR2
|
[NCBI]
|
1.13561e-05
|
|
|
MAN2B1
|
[NCBI]
|
1.13561e-05
|
|
|
SLC45A2
|
[NCBI]
|
1.13561e-05
|
|
|
SCNN1B
|
[NCBI]
|
1.13561e-05
|
|
|
FGB
|
[NCBI]
|
1.13561e-05
|
|
|
SLC16A2
|
[NCBI]
|
1.13561e-05
|
|
|
phenylketonuria
|
[NCBI]
|
1.12854e-05
|
|
|
CRC
|
[NCBI]
|
1.10556e-05
|
|
|
EXT2
|
[NCBI]
|
1.10451e-05
|
|
|
GLRA1
|
[NCBI]
|
1.10451e-05
|
|
|
EPB42
|
[NCBI]
|
1.10451e-05
|
|
|
ACADVL
|
[NCBI]
|
1.10451e-05
|
|
|
SPG7
|
[NCBI]
|
1.10451e-05
|
|
|
USH1C
|
[NCBI]
|
1.10451e-05
|
|
|
CDSP
|
[NCBI]
|
1.10059e-05
|
|
|
3-@beta-hydroxysteroid dehydrogenase, type ii, deficiency of
|
[NCBI]
|
1.07515e-05
|
|
|
GUCY2D
|
[NCBI]
|
1.07515e-05
|
|
|
FOXL2
|
[NCBI]
|
1.07515e-05
|
|
|
PQBP1
|
[NCBI]
|
1.07515e-05
|
|
|
KCNE1
|
[NCBI]
|
1.07515e-05
|
|
|
ECM1
|
[NCBI]
|
1.07515e-05
|
|
|
MC1R
|
[NCBI]
|
1.07421e-05
|
|
|
RB1
|
[NCBI]
|
1.06618e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
1.06563e-05
|
|
|
HAE
|
[NCBI]
|
1.06563e-05
|
|
|
CSF1
|
[NCBI]
|
1.04735e-05
|
|
|
tay-sachs disease, ab variant
|
[NCBI]
|
1.04735e-05
|
|
|
NEU1
|
[NCBI]
|
1.04735e-05
|
|
|
DMBT1
|
[NCBI]
|
1.04735e-05
|
|
|
DBT
|
[NCBI]
|
1.04735e-05
|
|
|
VMD
|
[NCBI]
|
1.03184e-05
|
|
|
JPS
|
[NCBI]
|
1.03184e-05
|
|
|
XPA
|
[NCBI]
|
1.03184e-05
|
|
|
G6PD
|
[NCBI]
|
1.02606e-05
|
|
|
FBN1
|
[NCBI]
|
1.02164e-05
|
|
|
CPT2
|
[NCBI]
|
1.02097e-05
|
|
|
HR
|
[NCBI]
|
1.02097e-05
|
|
|
CLCN5
|
[NCBI]
|
1.02097e-05
|
|
|
PEX7
|
[NCBI]
|
1.02097e-05
|
|
|
ABL
|
[NCBI]
|
9.99154e-06
|
|
|
EDMD
|
[NCBI]
|
9.99154e-06
|
|
|
FOXC2
|
[NCBI]
|
9.95884e-06
|
|
|
GATA4
|
[NCBI]
|
9.95884e-06
|
|
|
SLC5A5
|
[NCBI]
|
9.95884e-06
|
|
|
PDGFRB
|
[NCBI]
|
9.95884e-06
|
|
|
ATP2A2
|
[NCBI]
|
9.95884e-06
|
|
|
COL1A1
|
[NCBI]
|
9.88457e-06
|
|
|
WFS1
|
[NCBI]
|
9.71973e-06
|
|
|
SDHD
|
[NCBI]
|
9.71973e-06
|
|
|
CASP8
|
[NCBI]
|
9.71973e-06
|
|
|
GATA3
|
[NCBI]
|
9.71973e-06
|
|
|
NR3C2
|
[NCBI]
|
9.71973e-06
|
|
|
GJB3
|
[NCBI]
|
9.71973e-06
|
|
|
CFH
|
[NCBI]
|
9.56638e-06
|
|
|
CRYAA
|
[NCBI]
|
9.4914e-06
|
|
|
UROS
|
[NCBI]
|
9.4914e-06
|
|
|
EMD
|
[NCBI]
|
9.4914e-06
|
|
|
MSX1
|
[NCBI]
|
9.4914e-06
|
|
|
SLC25A20
|
[NCBI]
|
9.4914e-06
|
|
|
EDA
|
[NCBI]
|
9.4914e-06
|
|
|
LWD
|
[NCBI]
|
9.36916e-06
|
|
|
RPS19
|
[NCBI]
|
9.273e-06
|
|
|
MTCO3
|
[NCBI]
|
9.273e-06
|
|
|
NKX2E
|
[NCBI]
|
9.273e-06
|
|
|
SLC12A3
|
[NCBI]
|
9.273e-06
|
|
|
NPS
|
[NCBI]
|
9.07272e-06
|
|
|
neuroblastoma
|
[NCBI]
|
9.07272e-06
|
|
|
MTND2
|
[NCBI]
|
9.06376e-06
|
|
|
PMS2
|
[NCBI]
|
9.06376e-06
|
|
|
ELA2
|
[NCBI]
|
9.06376e-06
|
|
|
LDHB
|
[NCBI]
|
9.06376e-06
|
|
|
CDKN2A
|
[NCBI]
|
9.03986e-06
|
|
|
COL4A3
|
[NCBI]
|
8.863e-06
|
|
|
CHM
|
[NCBI]
|
8.863e-06
|
|
|
CRYAB
|
[NCBI]
|
8.863e-06
|
|
|
PRKAR1A
|
[NCBI]
|
8.67011e-06
|
|
|
IFNGR1
|
[NCBI]
|
8.67011e-06
|
|
|
PROP1
|
[NCBI]
|
8.67011e-06
|
|
|
TP53
|
[NCBI]
|
8.64532e-06
|
|
|
NF2
|
[NCBI]
|
8.50725e-06
|
|
|
COL17A1
|
[NCBI]
|
8.48455e-06
|
|
|
IPF1
|
[NCBI]
|
8.48455e-06
|
|
|
SMPD1
|
[NCBI]
|
8.48455e-06
|
|
|
NOG
|
[NCBI]
|
8.48455e-06
|
|
|
C1NH
|
[NCBI]
|
8.48455e-06
|
|
|
TTN
|
[NCBI]
|
8.30584e-06
|
|
|
XPC
|
[NCBI]
|
8.30584e-06
|
|
|
DISC1
|
[NCBI]
|
8.30584e-06
|
|
|
COL4A5
|
[NCBI]
|
8.13353e-06
|
|
|
TWIST1
|
[NCBI]
|
8.13353e-06
|
|
|
CD40LG
|
[NCBI]
|
8.13353e-06
|
|
|
GPC3
|
[NCBI]
|
8.13353e-06
|
|
|
CSTB
|
[NCBI]
|
8.13353e-06
|
|
|
WS1
|
[NCBI]
|
7.9759e-06
|
|
|
CLS
|
[NCBI]
|
7.9759e-06
|
|
|
GLI3
|
[NCBI]
|
7.96722e-06
|
|
|
CDKN1B
|
[NCBI]
|
7.96722e-06
|
|
|
neuraminidase deficiency with beta-galactosidase deficiency
|
[NCBI]
|
7.96722e-06
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
7.96722e-06
|
|
|
DCN
|
[NCBI]
|
7.96722e-06
|
|
|
SMAD4
|
[NCBI]
|
7.96722e-06
|
|
|
GTS
|
[NCBI]
|
7.90422e-06
|
|
|
IL12B
|
[NCBI]
|
7.80654e-06
|
|
|
oca2 gene
|
[NCBI]
|
7.80654e-06
|
|
|
bullous erythroderma ichthyosiformis congenita of brocq
|
[NCBI]
|
7.72217e-06
|
|
|
SOX10
|
[NCBI]
|
7.65117e-06
|
|
|
CLCN1
|
[NCBI]
|
7.65117e-06
|
|
|
GRPR
|
[NCBI]
|
7.65117e-06
|
|
|
CYBB
|
[NCBI]
|
7.65117e-06
|
|
|
PPOX
|
[NCBI]
|
7.50081e-06
|
|
|
FMO3
|
[NCBI]
|
7.50081e-06
|
|
|
SPG4
|
[NCBI]
|
7.50081e-06
|
|
|
ED1
|
[NCBI]
|
7.476e-06
|
|
|
MTCO2
|
[NCBI]
|
7.35516e-06
|
|
|
GHRL
|
[NCBI]
|
7.35516e-06
|
|
|
CXCR4
|
[NCBI]
|
7.35516e-06
|
|
|
TYRP1
|
[NCBI]
|
7.35516e-06
|
|
|
VWS
|
[NCBI]
|
7.23711e-06
|
|
|
CHM
|
[NCBI]
|
7.23711e-06
|
|
|
PTHR1
|
[NCBI]
|
7.21399e-06
|
|
|
PAI1
|
[NCBI]
|
7.21399e-06
|
|
|
coproporphyria
|
[NCBI]
|
7.21399e-06
|
|
|
RPS6KA3
|
[NCBI]
|
7.21399e-06
|
|
|
MYO7A
|
[NCBI]
|
7.21399e-06
|
|
|
LEP
|
[NCBI]
|
7.08557e-06
|
|
|
XPA
|
[NCBI]
|
7.07704e-06
|
|
|
RAG1
|
[NCBI]
|
7.07704e-06
|
|
|
FANCA
|
[NCBI]
|
7.07704e-06
|
|
|
glycogen storage disease i
|
[NCBI]
|
7.07704e-06
|
|
|
BAX
|
[NCBI]
|
7.07704e-06
|
|
|
APOB
|
[NCBI]
|
7.06458e-06
|
|
|
CHEK2
|
[NCBI]
|
6.94412e-06
|
|
|
RS1
|
[NCBI]
|
6.94412e-06
|
|
|
SHOX
|
[NCBI]
|
6.94412e-06
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
6.815e-06
|
|
|
BPES
|
[NCBI]
|
6.78007e-06
|
|
|
DES
|
[NCBI]
|
6.68952e-06
|
|
|
STK11
|
[NCBI]
|
6.68952e-06
|
|
|
fucosidosis
|
[NCBI]
|
6.68952e-06
|
|
|
GRN
|
[NCBI]
|
6.68952e-06
|
|
|
SCP2
|
[NCBI]
|
6.56749e-06
|
|
|
PDHA1
|
[NCBI]
|
6.56749e-06
|
|
|
ARMD1
|
[NCBI]
|
6.56143e-06
|
|
|
AMACR
|
[NCBI]
|
6.33317e-06
|
|
|
SOX9
|
[NCBI]
|
6.22059e-06
|
|
|
ENG
|
[NCBI]
|
6.22059e-06
|
|
|
CYP17A1
|
[NCBI]
|
6.22059e-06
|
|
|
tyrosinemia, type i
|
[NCBI]
|
6.11089e-06
|
|
|
RELN
|
[NCBI]
|
6.00393e-06
|
|
|
VLDLR
|
[NCBI]
|
6.00393e-06
|
|
|
CREBBP
|
[NCBI]
|
5.89962e-06
|
|
|
TCF7L2
|
[NCBI]
|
5.89962e-06
|
|
|
CTSC
|
[NCBI]
|
5.89962e-06
|
|
|
TSC1
|
[NCBI]
|
5.89962e-06
|
|
|
TPT1
|
[NCBI]
|
5.89962e-06
|
|
|
GALP
|
[NCBI]
|
5.79783e-06
|
|
|
COL7A1
|
[NCBI]
|
5.79783e-06
|
|
|
NIDDM
|
[NCBI]
|
5.74757e-06
|
|
|
TPO
|
[NCBI]
|
5.73581e-06
|
|
|
PRF1
|
[NCBI]
|
5.69848e-06
|
|
|
COL3A1
|
[NCBI]
|
5.69848e-06
|
|
|
RP2
|
[NCBI]
|
5.60145e-06
|
|
|
MTAP
|
[NCBI]
|
5.60145e-06
|
|
|
factor vii deficiency
|
[NCBI]
|
5.60145e-06
|
|
|
NP
|
[NCBI]
|
5.60145e-06
|
|
|
HS
|
[NCBI]
|
5.50667e-06
|
|
|
BWS
|
[NCBI]
|
5.4992e-06
|
|
|
F13A1
|
[NCBI]
|
5.41405e-06
|
|
|
FH
|
[NCBI]
|
5.41405e-06
|
|
|
FLNA
|
[NCBI]
|
5.32351e-06
|
|
|
RLBP1
|
[NCBI]
|
5.32351e-06
|
|
|
EPOR
|
[NCBI]
|
5.21541e-06
|
|
|
F2
|
[NCBI]
|
4.98069e-06
|
|
|
SLC2A2
|
[NCBI]
|
4.89949e-06
|
|
|
ASL
|
[NCBI]
|
4.74207e-06
|
|
|
menkes disease
|
[NCBI]
|
4.68804e-06
|
|
|
HNF4A
|
[NCBI]
|
4.66575e-06
|
|
|
cortisol 11-beta-ketoreductase deficiency
|
[NCBI]
|
4.59095e-06
|
|
|
ALS1
|
[NCBI]
|
4.52817e-06
|
|
|
CYP19A1
|
[NCBI]
|
4.51763e-06
|
|
|
UGT1A1
|
[NCBI]
|
4.44573e-06
|
|
|
JAK3
|
[NCBI]
|
4.37523e-06
|
|
|
KCNH2
|
[NCBI]
|
4.37161e-06
|
|
|
CD36
|
[NCBI]
|
4.30607e-06
|
|
|
NOTCH1
|
[NCBI]
|
4.30607e-06
|
|
|
PSACH
|
[NCBI]
|
4.22151e-06
|
|
|
DSPP
|
[NCBI]
|
4.10628e-06
|
|
|
AQP2
|
[NCBI]
|
4.04212e-06
|
|
|
CCR5
|
[NCBI]
|
4.04212e-06
|
|
|
lynch syndrome i
|
[NCBI]
|
3.93144e-06
|
|
|
SDS
|
[NCBI]
|
3.93144e-06
|
|
|
TNFRSF11B
|
[NCBI]
|
3.92535e-06
|
|
|
DRD4
|
[NCBI]
|
3.91727e-06
|
|
|
IL3
|
[NCBI]
|
3.79682e-06
|
|
|
ARSA
|
[NCBI]
|
3.73818e-06
|
|
|
MLH1
|
[NCBI]
|
3.68055e-06
|
|
|
AT
|
[NCBI]
|
3.6366e-06
|
|
|
APOA1
|
[NCBI]
|
3.62392e-06
|
|
|
TTR
|
[NCBI]
|
3.51614e-06
|
|
|
MTR
|
[NCBI]
|
3.4068e-06
|
|
|
VHL
|
[NCBI]
|
3.15494e-06
|
|
|
thrombasthenia of glanzmann and naegeli
|
[NCBI]
|
3.1521e-06
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
2.92254e-06
|
|
|
AMH
|
[NCBI]
|
2.87486e-06
|
|
|
antithrombin iii deficiency
|
[NCBI]
|
2.79158e-06
|
|
|
ABCC2
|
[NCBI]
|
2.74925e-06
|
|
|
MJD
|
[NCBI]
|
2.73891e-06
|
|
|
GH1
|
[NCBI]
|
2.50824e-06
|
|
|
SRY
|
[NCBI]
|
2.43256e-06
|
|
|
polycystic kidneys
|
[NCBI]
|
2.42214e-06
|
|
|
AS
|
[NCBI]
|
2.42214e-06
|
|
|
GUSB
|
[NCBI]
|
2.3231e-06
|
|
|
TG
|
[NCBI]
|
2.28085e-06
|
|
|
SRC
|
[NCBI]
|
2.21827e-06
|
|
|
PC
|
[NCBI]
|
2.15084e-06
|
|
|
PPARG
|
[NCBI]
|
1.92923e-06
|
|
|
CP
|
[NCBI]
|
1.92659e-06
|
|
|
NPM1
|
[NCBI]
|
1.84065e-06
|
|
|
TPMT
|
[NCBI]
|
1.81192e-06
|
|
|
MITF
|
[NCBI]
|
1.64756e-06
|
|
|
HBA2
|
[NCBI]
|
1.57024e-06
|
|
|
GDNF
|
[NCBI]
|
1.53463e-06
|
|
|
FGFR1
|
[NCBI]
|
1.49598e-06
|
|
|
SLPI
|
[NCBI]
|
1.49598e-06
|
|
|
RASA1
|
[NCBI]
|
1.48726e-06
|
|
|
DDC
|
[NCBI]
|
1.42463e-06
|
|
|
DBA
|
[NCBI]
|
1.40404e-06
|
|
|
RHO
|
[NCBI]
|
1.33383e-06
|
|
|
ADHD
|
[NCBI]
|
1.27151e-06
|
|
|
ALB
|
[NCBI]
|
1.26308e-06
|
|
|
AGER
|
[NCBI]
|
1.18606e-06
|
|
|
ABCB1
|
[NCBI]
|
1.1268e-06
|
|
|
VASP
|
[NCBI]
|
1.06984e-06
|
|
|
MCP
|
[NCBI]
|
9.45408e-07
|
|
|
TSD
|
[NCBI]
|
7.41352e-07
|
|
|
EV
|
[NCBI]
|
6.39195e-07
|
|
|
HEMB
|
[NCBI]
|
6.09778e-07
|
|
|
TF
|
[NCBI]
|
4.54615e-07
|
|
|
DMD
|
[NCBI]
|
3.84404e-07
|
|
|
DGS
|
[NCBI]
|
3.76919e-07
|
|
|
ALK
|
[NCBI]
|
3.75315e-07
|
|
|
COMP
|
[NCBI]
|
3.31917e-07
|
|
|
POMC
|
[NCBI]
|
2.42611e-07
|
|
|
DFSP
|
[NCBI]
|
1.56199e-07
|
|
|
APRT
|
[NCBI]
|
9.59442e-08
|
|
|
AR
|
[NCBI]
|
8.0739e-08
|
|
|
PMD
|
[NCBI]
|
5.41776e-08
|
|
|
PYY
|
[NCBI]
|
4.00184e-08
|
|
|
LCAT
|
[NCBI]
|
3.88385e-08
|
|
|
SHH
|
[NCBI]
|
3.58523e-08
|
|
|
HBA1
|
[NCBI]
|
2.74236e-08
|
|
|
GHR
|
[NCBI]
|
2.54469e-08
|
|
|
FA
|
[NCBI]
|
2.5147e-08
|
|
|
PXE
|
[NCBI]
|
5.3959e-09
|
|
|
TNFSF10
|
[NCBI]
|
2.52806e-11
|
|