|
OMIM |
Link |
Information gain |
01 |
|
EFMR
|
[NCBI]
|
0.00123293
|
|
|
RNANC
|
[NCBI]
|
0.00110469
|
|
|
tibial torsion, bilateral medial
|
[NCBI]
|
0.000877844
|
|
|
x inactivation, familial skewed, 2
|
[NCBI]
|
0.000660468
|
|
|
PN
|
[NCBI]
|
0.000578784
|
|
|
MHAC
|
[NCBI]
|
0.000578784
|
|
|
MRX23
|
[NCBI]
|
0.000525943
|
|
|
cerebral palsy, ataxic, autosomal recessive
|
[NCBI]
|
0.000486801
|
|
|
ASD1
|
[NCBI]
|
0.000429984
|
|
|
myopathy, tubular aggregate
|
[NCBI]
|
0.000408031
|
|
|
digeorge syndrome/velocardiofacial syndrome spectrum of malformation 2
|
[NCBI]
|
0.000408031
|
|
|
cluster headache, familial
|
[NCBI]
|
0.00038891
|
|
|
acrodysostosis
|
[NCBI]
|
0.00038891
|
|
|
SLE
|
[NCBI]
|
0.000374083
|
|
|
dupuytren contracture
|
[NCBI]
|
0.000371989
|
|
|
CARASIL
|
[NCBI]
|
0.000356824
|
|
|
MYMY1
|
[NCBI]
|
0.000330563
|
|
|
epilepsy, myoclonic, benign adult familial, type 1
|
[NCBI]
|
0.000330563
|
|
|
mohr syndrome
|
[NCBI]
|
0.000319041
|
|
|
leber optic atrophy, susceptibility to
|
[NCBI]
|
0.000308386
|
|
|
ACG1A
|
[NCBI]
|
0.000308386
|
|
|
microcephalic osteodysplastic primordial dwarfism, type i
|
[NCBI]
|
0.000289233
|
|
|
anencephaly
|
[NCBI]
|
0.000289233
|
|
|
FSHMD1A
|
[NCBI]
|
0.00028538
|
|
|
diaphragmatic hernia, congenital
|
[NCBI]
|
0.000237715
|
|
|
VUR1
|
[NCBI]
|
0.000231747
|
|
|
AIC
|
[NCBI]
|
0.000220578
|
|
|
SRS
|
[NCBI]
|
0.000218235
|
|
|
IL6R
|
[NCBI]
|
0.000188135
|
|
|
holoprosencephaly
|
[NCBI]
|
0.00018782
|
|
|
MAFD1
|
[NCBI]
|
0.00018782
|
|
|
SHFM1
|
[NCBI]
|
0.000172429
|
|
|
autism
|
[NCBI]
|
0.000162086
|
|
|
AOS
|
[NCBI]
|
0.000162086
|
|
|
HAE
|
[NCBI]
|
0.00015555
|
|
|
CDG1K
|
[NCBI]
|
0.000150796
|
|
|
MRXHF1
|
[NCBI]
|
0.000143764
|
|
|
SDS
|
[NCBI]
|
0.000128966
|
|
|
OFC1
|
[NCBI]
|
0.000125943
|
|
|
SMS
|
[NCBI]
|
0.00011944
|
|
|
SXI1
|
[NCBI]
|
0.000118653
|
|
|
PCTT
|
[NCBI]
|
0.000117649
|
|
|
USH1C
|
[NCBI]
|
0.000117466
|
|
|
ALG1
|
[NCBI]
|
0.000112906
|
|
|
gracile syndrome
|
[NCBI]
|
0.000111465
|
|
|
PRSS1
|
[NCBI]
|
0.000108275
|
|
|
SACS
|
[NCBI]
|
0.000103053
|
|
|
COL17A1
|
[NCBI]
|
0.000100278
|
|
|
CLS
|
[NCBI]
|
9.89243e-05
|
|
|
aceruloplasminemia
|
[NCBI]
|
9.84824e-05
|
|
|
charcot-marie-tooth peroneal muscular atrophy and friedreich ataxia, combined
|
[NCBI]
|
9.7794e-05
|
|
|
cerebellar ataxia, benign, with thermoanalgesia
|
[NCBI]
|
9.7794e-05
|
|
|
genitourinary tract anomalies
|
[NCBI]
|
9.7794e-05
|
|
|
osteogenesis imperfecta congenita, microcephaly, and cataracts
|
[NCBI]
|
9.7794e-05
|
|
|
craniosynostosis, philadelphia type
|
[NCBI]
|
9.7794e-05
|
|
|
stormorken syndrome
|
[NCBI]
|
9.7794e-05
|
|
|
brachioskeletogenital syndrome
|
[NCBI]
|
9.7794e-05
|
|
|
lattice degeneration of retina leading to retinal detachment
|
[NCBI]
|
9.7794e-05
|
|
|
CDG1M
|
[NCBI]
|
9.7794e-05
|
|
|
dysautonomia-like disorder
|
[NCBI]
|
9.7794e-05
|
|
|
sacral defect with anterior meningocele
|
[NCBI]
|
9.44965e-05
|
|
|
SDHA
|
[NCBI]
|
9.39633e-05
|
|
|
BLM
|
[NCBI]
|
9.15773e-05
|
|
|
chromosome 17q21.31 microdeletion syndrome
|
[NCBI]
|
9.03102e-05
|
|
|
PHA
|
[NCBI]
|
8.22922e-05
|
|
|
MDM1
|
[NCBI]
|
8.01467e-05
|
|
|
AHO
|
[NCBI]
|
7.89195e-05
|
|
|
hypercholesterolemia, autosomal dominant
|
[NCBI]
|
7.80189e-05
|
|
|
complement component 6 deficiency
|
[NCBI]
|
7.65378e-05
|
|
|
ERCC1
|
[NCBI]
|
7.65378e-05
|
|
|
LAD
|
[NCBI]
|
7.5547e-05
|
|
|
ABSD
|
[NCBI]
|
7.53601e-05
|
|
|
coxoauricular syndrome
|
[NCBI]
|
7.53601e-05
|
|
|
NFRCD
|
[NCBI]
|
7.53601e-05
|
|
|
MCOPCT3
|
[NCBI]
|
7.53601e-05
|
|
|
immunodeficiency-centromeric instability-facial anomalies syndrome
|
[NCBI]
|
7.35967e-05
|
|
|
BGN
|
[NCBI]
|
7.21321e-05
|
|
|
ZS
|
[NCBI]
|
7.06995e-05
|
|
|
VEGF
|
[NCBI]
|
7.02379e-05
|
|
|
RTT
|
[NCBI]
|
6.83896e-05
|
|
|
FENIB
|
[NCBI]
|
6.69168e-05
|
|
|
ARTS
|
[NCBI]
|
6.69168e-05
|
|
|
schizencephaly
|
[NCBI]
|
6.69168e-05
|
|
|
muscular dystrophy, hemizygous lethal type
|
[NCBI]
|
6.69168e-05
|
|
|
COH1
|
[NCBI]
|
6.61242e-05
|
|
|
MPP1
|
[NCBI]
|
6.59118e-05
|
|
|
SIRT6
|
[NCBI]
|
6.59118e-05
|
|
|
RPS7
|
[NCBI]
|
6.59118e-05
|
|
|
RPL17
|
[NCBI]
|
6.59118e-05
|
|
|
RPL4
|
[NCBI]
|
6.59118e-05
|
|
|
KCNB1
|
[NCBI]
|
6.59118e-05
|
|
|
RPL24
|
[NCBI]
|
6.59118e-05
|
|
|
NT5M
|
[NCBI]
|
6.59118e-05
|
|
|
CPXM
|
[NCBI]
|
6.59118e-05
|
|
|
STAU2
|
[NCBI]
|
6.59118e-05
|
|
|
NGFG
|
[NCBI]
|
6.59118e-05
|
|
|
RPL18A
|
[NCBI]
|
6.59118e-05
|
|
|
RPS23
|
[NCBI]
|
6.59118e-05
|
|
|
RPL6
|
[NCBI]
|
6.59118e-05
|
|
|
u2 small nuclear ribonucleoprotein auxiliary factor, small subunit 1
|
[NCBI]
|
6.59118e-05
|
|
|
ERVE1
|
[NCBI]
|
6.59118e-05
|
|
|
RNPS1
|
[NCBI]
|
6.59118e-05
|
|
|
RPS15A
|
[NCBI]
|
6.59118e-05
|
|
|
RPS21
|
[NCBI]
|
6.59118e-05
|
|
|
TMEM15
|
[NCBI]
|
6.59118e-05
|
|
|
RPS17
|
[NCBI]
|
6.59118e-05
|
|
|
RPS11
|
[NCBI]
|
6.59118e-05
|
|
|
E4F1
|
[NCBI]
|
6.59118e-05
|
|
|
NT5C
|
[NCBI]
|
6.59118e-05
|
|
|
RPS26
|
[NCBI]
|
6.59118e-05
|
|
|
RPL11
|
[NCBI]
|
6.59118e-05
|
|
|
RPL23
|
[NCBI]
|
6.59118e-05
|
|
|
RPS18
|
[NCBI]
|
6.59118e-05
|
|
|
PPP1R10
|
[NCBI]
|
6.59118e-05
|
|
|
RPS28
|
[NCBI]
|
6.59118e-05
|
|
|
HANAC
|
[NCBI]
|
6.14473e-05
|
|
|
slipped femoral capital epiphyses
|
[NCBI]
|
6.14473e-05
|
|
|
TS
|
[NCBI]
|
6.14473e-05
|
|
|
SPG7
|
[NCBI]
|
6.14473e-05
|
|
|
CDG1G
|
[NCBI]
|
6.14473e-05
|
|
|
PTLS
|
[NCBI]
|
6.14473e-05
|
|
|
C1NH
|
[NCBI]
|
6.05922e-05
|
|
|
DYT1
|
[NCBI]
|
5.95856e-05
|
|
|
mucolipidosis ii
|
[NCBI]
|
5.78829e-05
|
|
|
ectrodactyly
|
[NCBI]
|
5.73902e-05
|
|
|
femur-fibula-ulna syndrome
|
[NCBI]
|
5.73902e-05
|
|
|
MTRNR1
|
[NCBI]
|
5.66792e-05
|
|
|
RCC1
|
[NCBI]
|
5.57613e-05
|
|
|
RSTS
|
[NCBI]
|
5.47578e-05
|
|
|
short stature, idiopathic, autosomal
|
[NCBI]
|
5.4165e-05
|
|
|
melanoma-astrocytoma syndrome
|
[NCBI]
|
5.4165e-05
|
|
|
OA1
|
[NCBI]
|
5.39388e-05
|
|
|
MOCS2
|
[NCBI]
|
5.21442e-05
|
|
|
RPS25
|
[NCBI]
|
5.21442e-05
|
|
|
RPL26
|
[NCBI]
|
5.21442e-05
|
|
|
SYT7
|
[NCBI]
|
5.21442e-05
|
|
|
ELA1
|
[NCBI]
|
5.21442e-05
|
|
|
MYH2
|
[NCBI]
|
5.21442e-05
|
|
|
ZNF185
|
[NCBI]
|
5.21442e-05
|
|
|
PI12
|
[NCBI]
|
5.21442e-05
|
|
|
IVL
|
[NCBI]
|
5.21442e-05
|
|
|
RPL3
|
[NCBI]
|
5.21442e-05
|
|
|
RPL8
|
[NCBI]
|
5.21442e-05
|
|
|
RPL37
|
[NCBI]
|
5.21442e-05
|
|
|
RPS13
|
[NCBI]
|
5.21442e-05
|
|
|
RPL15
|
[NCBI]
|
5.21442e-05
|
|
|
RPS2
|
[NCBI]
|
5.21442e-05
|
|
|
RPS27
|
[NCBI]
|
5.21442e-05
|
|
|
BCAT2
|
[NCBI]
|
5.21442e-05
|
|
|
RPL13
|
[NCBI]
|
5.21442e-05
|
|
|
RPL38
|
[NCBI]
|
5.21442e-05
|
|
|
RPL9
|
[NCBI]
|
5.21442e-05
|
|
|
RPS24
|
[NCBI]
|
5.21442e-05
|
|
|
RPL18
|
[NCBI]
|
5.21442e-05
|
|
|
MAB21L1
|
[NCBI]
|
5.21442e-05
|
|
|
GABRA3
|
[NCBI]
|
5.21442e-05
|
|
|
RNU3
|
[NCBI]
|
5.21442e-05
|
|
|
PFN2
|
[NCBI]
|
5.21442e-05
|
|
|
NONO
|
[NCBI]
|
5.21442e-05
|
|
|
ZFX
|
[NCBI]
|
5.21442e-05
|
|
|
RPS8
|
[NCBI]
|
5.21442e-05
|
|
|
leber optic atrophy
|
[NCBI]
|
5.17117e-05
|
|
|
factor x deficiency
|
[NCBI]
|
5.15458e-05
|
|
|
agammaglobulinemia, non-bruton type, autosomal recessive
|
[NCBI]
|
5.14894e-05
|
|
|
polydactyly, preaxial i
|
[NCBI]
|
5.14894e-05
|
|
|
OPTB5
|
[NCBI]
|
5.14894e-05
|
|
|
NN
|
[NCBI]
|
5.14894e-05
|
|
|
pancreas, annular
|
[NCBI]
|
5.14894e-05
|
|
|
n-acetylglutamate synthase deficiency
|
[NCBI]
|
5.14894e-05
|
|
|
velocardiofacial syndrome
|
[NCBI]
|
5.10717e-05
|
|
|
CHH
|
[NCBI]
|
5.02226e-05
|
|
|
TSD
|
[NCBI]
|
5.01706e-05
|
|
|
AD
|
[NCBI]
|
4.93872e-05
|
|
|
IBM3
|
[NCBI]
|
4.92045e-05
|
|
|
colorectal adenomatous polyposis, autosomal recessive
|
[NCBI]
|
4.92045e-05
|
|
|
MRT1
|
[NCBI]
|
4.92045e-05
|
|
|
elejalde disease
|
[NCBI]
|
4.92045e-05
|
|
|
pancreatic cancer, susceptibility to, 1
|
[NCBI]
|
4.92045e-05
|
|
|
BDE
|
[NCBI]
|
4.92045e-05
|
|
|
ODG2
|
[NCBI]
|
4.92045e-05
|
|
|
cardiac conduction defect
|
[NCBI]
|
4.92045e-05
|
|
|
LSFC
|
[NCBI]
|
4.92045e-05
|
|
|
HGPS
|
[NCBI]
|
4.86003e-05
|
|
|
mucopolysaccharidosis type iva
|
[NCBI]
|
4.78841e-05
|
|
|
ODG1
|
[NCBI]
|
4.72117e-05
|
|
|
cerebral palsy, spastic, symmetric, autosomal recessive
|
[NCBI]
|
4.72117e-05
|
|
|
apolipoprotein c-ii deficiency
|
[NCBI]
|
4.72117e-05
|
|
|
NPHP2
|
[NCBI]
|
4.72117e-05
|
|
|
renal cell carcinoma, papillary
|
[NCBI]
|
4.72117e-05
|
|
|
RPS10
|
[NCBI]
|
4.69558e-05
|
|
|
RPL21
|
[NCBI]
|
4.69558e-05
|
|
|
RPL7A
|
[NCBI]
|
4.69558e-05
|
|
|
LUC7L
|
[NCBI]
|
4.69558e-05
|
|
|
RPS4Y
|
[NCBI]
|
4.69558e-05
|
|
|
PDPK1
|
[NCBI]
|
4.69558e-05
|
|
|
PRSS12
|
[NCBI]
|
4.69558e-05
|
|
|
RPL28
|
[NCBI]
|
4.69558e-05
|
|
|
RPS15
|
[NCBI]
|
4.69558e-05
|
|
|
RPS12
|
[NCBI]
|
4.69558e-05
|
|
|
RPS3
|
[NCBI]
|
4.69558e-05
|
|
|
RPS5
|
[NCBI]
|
4.69558e-05
|
|
|
GPC4
|
[NCBI]
|
4.69558e-05
|
|
|
RPL27A
|
[NCBI]
|
4.69558e-05
|
|
|
RPS16
|
[NCBI]
|
4.69558e-05
|
|
|
RPS14
|
[NCBI]
|
4.69558e-05
|
|
|
HD
|
[NCBI]
|
4.66037e-05
|
|
|
BDB1
|
[NCBI]
|
4.54457e-05
|
|
|
dentinogenesis imperfecta, shields type iii
|
[NCBI]
|
4.54457e-05
|
|
|
GS1
|
[NCBI]
|
4.54457e-05
|
|
|
sarcosinemia
|
[NCBI]
|
4.54457e-05
|
|
|
complement component 7 deficiency
|
[NCBI]
|
4.38608e-05
|
|
|
AMDM
|
[NCBI]
|
4.38608e-05
|
|
|
ALG12
|
[NCBI]
|
4.35911e-05
|
|
|
UBE2B
|
[NCBI]
|
4.35911e-05
|
|
|
RPL5
|
[NCBI]
|
4.35911e-05
|
|
|
RPS20
|
[NCBI]
|
4.35911e-05
|
|
|
UBE2A
|
[NCBI]
|
4.35911e-05
|
|
|
RPL7
|
[NCBI]
|
4.35911e-05
|
|
|
RPS3A
|
[NCBI]
|
4.35911e-05
|
|
|
PPD2
|
[NCBI]
|
4.24239e-05
|
|
|
GS2
|
[NCBI]
|
4.24239e-05
|
|
|
wildervanck syndrome
|
[NCBI]
|
4.24239e-05
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
4.2147e-05
|
|
|
USH3
|
[NCBI]
|
4.11103e-05
|
|
|
hyperprolinemia, type i
|
[NCBI]
|
4.11103e-05
|
|
|
AHCY
|
[NCBI]
|
4.10924e-05
|
|
|
DSTN
|
[NCBI]
|
4.10924e-05
|
|
|
MOCS1
|
[NCBI]
|
4.10924e-05
|
|
|
EVC
|
[NCBI]
|
4.10924e-05
|
|
|
RPS29
|
[NCBI]
|
4.10924e-05
|
|
|
MTMR1
|
[NCBI]
|
4.10924e-05
|
|
|
RPS9
|
[NCBI]
|
4.10924e-05
|
|
|
currarino syndrome
|
[NCBI]
|
3.99009e-05
|
|
|
HCHWAD
|
[NCBI]
|
3.99009e-05
|
|
|
OPTA2
|
[NCBI]
|
3.99009e-05
|
|
|
WS2A
|
[NCBI]
|
3.99009e-05
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
3.99009e-05
|
|
|
langer mesomelic dysplasia
|
[NCBI]
|
3.99009e-05
|
|
|
KERA
|
[NCBI]
|
3.91039e-05
|
|
|
RNF139
|
[NCBI]
|
3.91039e-05
|
|
|
NSDHL
|
[NCBI]
|
3.91039e-05
|
|
|
OSTM1
|
[NCBI]
|
3.91039e-05
|
|
|
ADLTE
|
[NCBI]
|
3.87809e-05
|
|
|
vitamin d-dependent rickets, type i
|
[NCBI]
|
3.77382e-05
|
|
|
muckle-wells syndrome
|
[NCBI]
|
3.77382e-05
|
|
|
severe combined immunodeficiency with sensitivity to ionizing radiation
|
[NCBI]
|
3.77382e-05
|
|
|
lipoid congenital adrenal hyperplasia
|
[NCBI]
|
3.77382e-05
|
|
|
ACHM2
|
[NCBI]
|
3.77382e-05
|
|
|
S100A7
|
[NCBI]
|
3.74524e-05
|
|
|
NAGS
|
[NCBI]
|
3.74524e-05
|
|
|
GRB10
|
[NCBI]
|
3.74524e-05
|
|
|
PDCD5
|
[NCBI]
|
3.74524e-05
|
|
|
RPS4X
|
[NCBI]
|
3.74524e-05
|
|
|
HIRA
|
[NCBI]
|
3.74524e-05
|
|
|
CFTD
|
[NCBI]
|
3.67633e-05
|
|
|
PHA1
|
[NCBI]
|
3.67633e-05
|
|
|
heterotopia, periventricular, x-linked dominant
|
[NCBI]
|
3.67633e-05
|
|
|
MYOC
|
[NCBI]
|
3.64623e-05
|
|
|
CLDN1
|
[NCBI]
|
3.60406e-05
|
|
|
MID1
|
[NCBI]
|
3.60406e-05
|
|
|
CFD
|
[NCBI]
|
3.60406e-05
|
|
|
PAPSS2
|
[NCBI]
|
3.60406e-05
|
|
|
NETH
|
[NCBI]
|
3.5848e-05
|
|
|
amyloidosis v
|
[NCBI]
|
3.5848e-05
|
|
|
AHDS
|
[NCBI]
|
3.5848e-05
|
|
|
HSAN2
|
[NCBI]
|
3.5848e-05
|
|
|
CDPX1
|
[NCBI]
|
3.49858e-05
|
|
|
omenn syndrome
|
[NCBI]
|
3.49858e-05
|
|
|
CACNA1C
|
[NCBI]
|
3.48078e-05
|
|
|
COL4A1
|
[NCBI]
|
3.48078e-05
|
|
|
RAG2
|
[NCBI]
|
3.48078e-05
|
|
|
INSR
|
[NCBI]
|
3.46028e-05
|
|
|
crouzon syndrome
|
[NCBI]
|
3.41711e-05
|
|
|
TTDP
|
[NCBI]
|
3.41711e-05
|
|
|
MYO5A
|
[NCBI]
|
3.37141e-05
|
|
|
CDKL5
|
[NCBI]
|
3.37141e-05
|
|
|
HDAC3
|
[NCBI]
|
3.37141e-05
|
|
|
RPS6
|
[NCBI]
|
3.37141e-05
|
|
|
CDKN2A
|
[NCBI]
|
3.34109e-05
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
3.3399e-05
|
|
|
IBM2
|
[NCBI]
|
3.3399e-05
|
|
|
KTCN1
|
[NCBI]
|
3.3399e-05
|
|
|
LAMR1
|
[NCBI]
|
3.27315e-05
|
|
|
MTMR2
|
[NCBI]
|
3.27315e-05
|
|
|
GHR
|
[NCBI]
|
3.19914e-05
|
|
|
MNS
|
[NCBI]
|
3.19674e-05
|
|
|
GLC3A
|
[NCBI]
|
3.19674e-05
|
|
|
GABEB
|
[NCBI]
|
3.19674e-05
|
|
|
NBIA1
|
[NCBI]
|
3.19674e-05
|
|
|
OCRL
|
[NCBI]
|
3.18396e-05
|
|
|
FLCN
|
[NCBI]
|
3.18396e-05
|
|
|
NPHS1
|
[NCBI]
|
3.13012e-05
|
|
|
weaver syndrome
|
[NCBI]
|
3.13012e-05
|
|
|
pancreatic carcinoma
|
[NCBI]
|
3.13012e-05
|
|
|
DLL3
|
[NCBI]
|
3.10233e-05
|
|
|
NPHS1
|
[NCBI]
|
3.10233e-05
|
|
|
myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
|
[NCBI]
|
3.06645e-05
|
|
|
cutis laxa, x-linked
|
[NCBI]
|
3.06645e-05
|
|
|
RMD
|
[NCBI]
|
3.06645e-05
|
|
|
canavan disease
|
[NCBI]
|
3.06645e-05
|
|
|
HDAC2
|
[NCBI]
|
3.0271e-05
|
|
|
MADA
|
[NCBI]
|
3.00547e-05
|
|
|
LYST
|
[NCBI]
|
2.95734e-05
|
|
|
MUTYH
|
[NCBI]
|
2.95734e-05
|
|
|
ATXN3
|
[NCBI]
|
2.95734e-05
|
|
|
histidinemia
|
[NCBI]
|
2.94699e-05
|
|
|
osteoarthritis
|
[NCBI]
|
2.94699e-05
|
|
|
CD2AP
|
[NCBI]
|
2.89233e-05
|
|
|
SALL4
|
[NCBI]
|
2.89233e-05
|
|
|
FMO3
|
[NCBI]
|
2.89233e-05
|
|
|
MHA
|
[NCBI]
|
2.89083e-05
|
|
|
OFD1
|
[NCBI]
|
2.89083e-05
|
|
|
hyperglycerolemia
|
[NCBI]
|
2.89083e-05
|
|
|
DRD
|
[NCBI]
|
2.89083e-05
|
|
|
ETM1
|
[NCBI]
|
2.89083e-05
|
|
|
DFNB1
|
[NCBI]
|
2.89083e-05
|
|
|
KSS
|
[NCBI]
|
2.86783e-05
|
|
|
ATRX
|
[NCBI]
|
2.8368e-05
|
|
|
epidermolysis bullosa letalis
|
[NCBI]
|
2.8368e-05
|
|
|
NSD1
|
[NCBI]
|
2.83147e-05
|
|
|
CFNS
|
[NCBI]
|
2.78478e-05
|
|
|
CETP
|
[NCBI]
|
2.77427e-05
|
|
|
CTSK
|
[NCBI]
|
2.77427e-05
|
|
|
SPG7
|
[NCBI]
|
2.77427e-05
|
|
|
SLC22A5
|
[NCBI]
|
2.72033e-05
|
|
|
MTCO1
|
[NCBI]
|
2.72033e-05
|
|
|
CDK6
|
[NCBI]
|
2.72033e-05
|
|
|
RLBP1
|
[NCBI]
|
2.72033e-05
|
|
|
mucolipidosis iv
|
[NCBI]
|
2.68621e-05
|
|
|
niemann-pick disease, type a
|
[NCBI]
|
2.68621e-05
|
|
|
RPS19
|
[NCBI]
|
2.66929e-05
|
|
|
NKX2E
|
[NCBI]
|
2.66929e-05
|
|
|
CYP1B1
|
[NCBI]
|
2.66929e-05
|
|
|
FA
|
[NCBI]
|
2.66643e-05
|
|
|
hemophilia a
|
[NCBI]
|
2.6615e-05
|
|
|
CFTR
|
[NCBI]
|
2.63357e-05
|
|
|
PMP22
|
[NCBI]
|
2.61851e-05
|
|
|
OCRL
|
[NCBI]
|
2.59418e-05
|
|
|
FPLD2
|
[NCBI]
|
2.59418e-05
|
|
|
SGBS1
|
[NCBI]
|
2.59418e-05
|
|
|
CDSP
|
[NCBI]
|
2.59418e-05
|
|
|
glycogen storage disease vii
|
[NCBI]
|
2.59418e-05
|
|
|
SPTB
|
[NCBI]
|
2.57483e-05
|
|
|
TCOF1
|
[NCBI]
|
2.57483e-05
|
|
|
XK
|
[NCBI]
|
2.57483e-05
|
|
|
TBG
|
[NCBI]
|
2.57483e-05
|
|
|
EDN1
|
[NCBI]
|
2.53094e-05
|
|
|
HNF1B
|
[NCBI]
|
2.53094e-05
|
|
|
H19
|
[NCBI]
|
2.53094e-05
|
|
|
mitochondrial complex iv deficiency
|
[NCBI]
|
2.50794e-05
|
|
|
ODDD
|
[NCBI]
|
2.50794e-05
|
|
|
CAPN10
|
[NCBI]
|
2.48902e-05
|
|
|
GLI3
|
[NCBI]
|
2.48902e-05
|
|
|
homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity
|
[NCBI]
|
2.4668e-05
|
|
|
testicular tumors
|
[NCBI]
|
2.4668e-05
|
|
|
DNMT3B
|
[NCBI]
|
2.44889e-05
|
|
|
PMM2
|
[NCBI]
|
2.44889e-05
|
|
|
SPDA1
|
[NCBI]
|
2.42686e-05
|
|
|
RBS
|
[NCBI]
|
2.42686e-05
|
|
|
GLC1A
|
[NCBI]
|
2.42686e-05
|
|
|
PITX2
|
[NCBI]
|
2.41043e-05
|
|
|
cystinuria
|
[NCBI]
|
2.38809e-05
|
|
|
DMD
|
[NCBI]
|
2.38284e-05
|
|
|
ERCC2
|
[NCBI]
|
2.3735e-05
|
|
|
MTM1
|
[NCBI]
|
2.3735e-05
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
2.3504e-05
|
|
|
SOX9
|
[NCBI]
|
2.33798e-05
|
|
|
TFRC
|
[NCBI]
|
2.33798e-05
|
|
|
HHC1
|
[NCBI]
|
2.2781e-05
|
|
|
IGF2
|
[NCBI]
|
2.2708e-05
|
|
|
obesity
|
[NCBI]
|
2.24339e-05
|
|
|
OCA1A
|
[NCBI]
|
2.24339e-05
|
|
|
CREBBP
|
[NCBI]
|
2.23897e-05
|
|
|
PHS
|
[NCBI]
|
2.20957e-05
|
|
|
BTHS
|
[NCBI]
|
2.20957e-05
|
|
|
pyruvate kinase deficiency of red cells
|
[NCBI]
|
2.20957e-05
|
|
|
FSHR
|
[NCBI]
|
2.20821e-05
|
|
|
PKLR
|
[NCBI]
|
2.20821e-05
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
2.17845e-05
|
|
|
GSN
|
[NCBI]
|
2.17845e-05
|
|
|
pta deficiency
|
[NCBI]
|
2.17845e-05
|
|
|
HHF1
|
[NCBI]
|
2.17661e-05
|
|
|
FDH
|
[NCBI]
|
2.17661e-05
|
|
|
XPA
|
[NCBI]
|
2.17661e-05
|
|
|
GC
|
[NCBI]
|
2.14963e-05
|
|
|
MYO7A
|
[NCBI]
|
2.1217e-05
|
|
|
C3
|
[NCBI]
|
2.1217e-05
|
|
|
LWD
|
[NCBI]
|
2.11311e-05
|
|
|
TP53
|
[NCBI]
|
2.10901e-05
|
|
|
FANCC
|
[NCBI]
|
2.0946e-05
|
|
|
HSAN3
|
[NCBI]
|
2.08251e-05
|
|
|
LDLR
|
[NCBI]
|
2.07904e-05
|
|
|
SHOX
|
[NCBI]
|
2.06829e-05
|
|
|
PRPH2
|
[NCBI]
|
2.06829e-05
|
|
|
down syndrome
|
[NCBI]
|
2.05262e-05
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
2.04273e-05
|
|
|
ITGB2
|
[NCBI]
|
2.04273e-05
|
|
|
ADHD
|
[NCBI]
|
2.02342e-05
|
|
|
BRAF
|
[NCBI]
|
2.01788e-05
|
|
|
ESD
|
[NCBI]
|
2.01788e-05
|
|
|
LI1
|
[NCBI]
|
1.99488e-05
|
|
|
CES
|
[NCBI]
|
1.96698e-05
|
|
|
CTNS
|
[NCBI]
|
1.91299e-05
|
|
|
PDS
|
[NCBI]
|
1.88686e-05
|
|
|
BPES
|
[NCBI]
|
1.86127e-05
|
|
|
RP2
|
[NCBI]
|
1.82083e-05
|
|
|
CACNA1A
|
[NCBI]
|
1.80143e-05
|
|
|
BIRC1
|
[NCBI]
|
1.78245e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
1.764e-05
|
|
|
prostate cancer
|
[NCBI]
|
1.764e-05
|
|
|
HBB
|
[NCBI]
|
1.75227e-05
|
|
|
WS1
|
[NCBI]
|
1.74087e-05
|
|
|
bullous erythroderma ichthyosiformis congenita of brocq
|
[NCBI]
|
1.67407e-05
|
|
|
SPTA1
|
[NCBI]
|
1.644e-05
|
|
|
hurler syndrome
|
[NCBI]
|
1.63158e-05
|
|
|
ELN
|
[NCBI]
|
1.61263e-05
|
|
|
TCOF
|
[NCBI]
|
1.6109e-05
|
|
|
ALGS1
|
[NCBI]
|
1.55103e-05
|
|
|
ABCD1
|
[NCBI]
|
1.53896e-05
|
|
|
MTHFR
|
[NCBI]
|
1.51123e-05
|
|
|
TSC2
|
[NCBI]
|
1.47129e-05
|
|
|
porphyria variegata
|
[NCBI]
|
1.44012e-05
|
|
|
SCA2
|
[NCBI]
|
1.38862e-05
|
|
|
gaucher disease, type i
|
[NCBI]
|
1.38862e-05
|
|
|
MTTL1
|
[NCBI]
|
1.33964e-05
|
|
|
PSORS1
|
[NCBI]
|
1.33949e-05
|
|
|
ALS1
|
[NCBI]
|
1.33949e-05
|
|
|
GNAS
|
[NCBI]
|
1.32868e-05
|
|
|
AIRE
|
[NCBI]
|
1.30719e-05
|
|
|
PTH
|
[NCBI]
|
1.24557e-05
|
|
|
antithrombin iii deficiency
|
[NCBI]
|
1.17145e-05
|
|
|
ADA
|
[NCBI]
|
1.16037e-05
|
|
|
APC
|
[NCBI]
|
1.15673e-05
|
|
|
BWS
|
[NCBI]
|
1.14358e-05
|
|
|
HPRT1
|
[NCBI]
|
1.11994e-05
|
|
|
homocystinuria
|
[NCBI]
|
1.08749e-05
|
|
|
ATM
|
[NCBI]
|
1.07959e-05
|
|
|
AS
|
[NCBI]
|
1.05049e-05
|
|
|
AT
|
[NCBI]
|
1.05049e-05
|
|
|
PKD1
|
[NCBI]
|
1.02661e-05
|
|
|
CASR
|
[NCBI]
|
9.8413e-06
|
|
|
BRCA2
|
[NCBI]
|
9.7052e-06
|
|
|
MECP2
|
[NCBI]
|
9.37619e-06
|
|
|
ADCYAP1
|
[NCBI]
|
9.12388e-06
|
|
|
FGFR2
|
[NCBI]
|
9.00116e-06
|
|
|
FRDA
|
[NCBI]
|
8.96403e-06
|
|
|
MS
|
[NCBI]
|
8.57236e-06
|
|
|
ACH
|
[NCBI]
|
8.57236e-06
|
|
|
DBA
|
[NCBI]
|
8.47728e-06
|
|
|
PLG
|
[NCBI]
|
8.41929e-06
|
|
|
GFAP
|
[NCBI]
|
8.23098e-06
|
|
|
apc gene
|
[NCBI]
|
8.09349e-06
|
|
|
BBS
|
[NCBI]
|
7.92929e-06
|
|
|
VHL
|
[NCBI]
|
7.84154e-06
|
|
|
GJB2
|
[NCBI]
|
7.58505e-06
|
|
|
OPMD
|
[NCBI]
|
7.41724e-06
|
|
|
PWS
|
[NCBI]
|
7.41716e-06
|
|
|
IP
|
[NCBI]
|
7.1737e-06
|
|
|
HSCR1
|
[NCBI]
|
7.1737e-06
|
|
|
HEMB
|
[NCBI]
|
6.85011e-06
|
|
|
SMAX1
|
[NCBI]
|
6.48878e-06
|
|
|
APOE
|
[NCBI]
|
6.37124e-06
|
|
|
DRPLA
|
[NCBI]
|
5.93239e-06
|
|
|
HPS
|
[NCBI]
|
5.93239e-06
|
|
|
ALD
|
[NCBI]
|
5.93135e-06
|
|
|
BRCA1
|
[NCBI]
|
5.78903e-06
|
|
|
HFE
|
[NCBI]
|
5.68288e-06
|
|
|
INS
|
[NCBI]
|
5.64797e-06
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
5.2385e-06
|
|
|
GHRH
|
[NCBI]
|
5.15081e-06
|
|
|
AR
|
[NCBI]
|
5.12277e-06
|
|
|
CP
|
[NCBI]
|
5.08807e-06
|
|
|
RB1
|
[NCBI]
|
4.96496e-06
|
|
|
BCNS
|
[NCBI]
|
4.89127e-06
|
|
|
MBL2
|
[NCBI]
|
4.64181e-06
|
|
|
DMD
|
[NCBI]
|
4.10822e-06
|
|
|
PI
|
[NCBI]
|
3.95827e-06
|
|
|
ACE
|
[NCBI]
|
3.7219e-06
|
|
|
HP
|
[NCBI]
|
2.93592e-06
|
|
|
TS
|
[NCBI]
|
2.85454e-06
|
|
|
NF1
|
[NCBI]
|
2.71996e-06
|
|
|
PXE
|
[NCBI]
|
2.37096e-06
|
|
|
CD
|
[NCBI]
|
2.2237e-06
|
|
|
MJD
|
[NCBI]
|
1.52458e-06
|
|
|
CJD
|
[NCBI]
|
1.46108e-06
|
|
|
AFP
|
[NCBI]
|
1.2519e-06
|
|
|
FMF
|
[NCBI]
|
1.16755e-06
|
|
|
BDNF
|
[NCBI]
|
9.79289e-07
|
|
|
WAS
|
[NCBI]
|
6.95036e-07
|
|
|
RP
|
[NCBI]
|
6.13676e-07
|
|
|
TTR
|
[NCBI]
|
3.17709e-07
|
|
|
polycystic kidneys
|
[NCBI]
|
5.05418e-08
|
|
|
CF
|
[NCBI]
|
4.94451e-08
|
|
|
GTS
|
[NCBI]
|
2.25489e-09
|
|