|
OMIM |
Link |
Information gain |
01 |
|
spinal muscular atrophy, childhood, proximal, autosomal dominant
|
[NCBI]
|
0.00125716
|
|
|
diaphragmatic hernia, congenital
|
[NCBI]
|
0.00119917
|
|
|
RNANC
|
[NCBI]
|
0.00117162
|
|
|
MRX42
|
[NCBI]
|
0.000946691
|
|
|
urogenital adysplasia, hereditary
|
[NCBI]
|
0.000918329
|
|
|
ACG1A
|
[NCBI]
|
0.00091109
|
|
|
SLE
|
[NCBI]
|
0.000834867
|
|
|
MRX1
|
[NCBI]
|
0.000762223
|
|
|
CF
|
[NCBI]
|
0.000757508
|
|
|
HD
|
[NCBI]
|
0.000634213
|
|
|
acromelic frontonasal dysostosis
|
[NCBI]
|
0.000584069
|
|
|
costovertebral segmentation anomalies
|
[NCBI]
|
0.000520411
|
|
|
POADS
|
[NCBI]
|
0.000520411
|
|
|
pena-shokeir syndrome, type i
|
[NCBI]
|
0.000484221
|
|
|
cerebral palsy, ataxic, autosomal recessive
|
[NCBI]
|
0.000473422
|
|
|
spondyloepiphyseal dysplasia tarda, autosomal dominant
|
[NCBI]
|
0.000473422
|
|
|
APC
|
[NCBI]
|
0.000447039
|
|
|
jejunal atresia
|
[NCBI]
|
0.00043625
|
|
|
peho syndrome
|
[NCBI]
|
0.00043625
|
|
|
OFD4
|
[NCBI]
|
0.00043625
|
|
|
SPG5A
|
[NCBI]
|
0.000405566
|
|
|
TAPVR1
|
[NCBI]
|
0.000405566
|
|
|
intestinal atresia, multiple
|
[NCBI]
|
0.000405566
|
|
|
spinocerebellar ataxia 29
|
[NCBI]
|
0.000356867
|
|
|
short rib-polydactyly syndrome, type iv
|
[NCBI]
|
0.000356867
|
|
|
constricting bands, congenital
|
[NCBI]
|
0.000356867
|
|
|
gonadal dysgenesis, xy type
|
[NCBI]
|
0.000336917
|
|
|
OFC1
|
[NCBI]
|
0.00033549
|
|
|
OTSC1
|
[NCBI]
|
0.000319105
|
|
|
HFM
|
[NCBI]
|
0.000312465
|
|
|
DYT2
|
[NCBI]
|
0.00030304
|
|
|
anencephaly
|
[NCBI]
|
0.00030304
|
|
|
ST8
|
[NCBI]
|
0.00028843
|
|
|
FEB1
|
[NCBI]
|
0.00028843
|
|
|
AIC
|
[NCBI]
|
0.000262726
|
|
|
thrombocytopenia-absent radius syndrome
|
[NCBI]
|
0.000212792
|
|
|
CFTR
|
[NCBI]
|
0.000209456
|
|
|
EEC1
|
[NCBI]
|
0.000189469
|
|
|
diabetes mellitus, transient neonatal, 1
|
[NCBI]
|
0.000189469
|
|
|
TS
|
[NCBI]
|
0.000187386
|
|
|
FSHMD1A
|
[NCBI]
|
0.000185322
|
|
|
AS
|
[NCBI]
|
0.000169078
|
|
|
FRNS
|
[NCBI]
|
0.000163576
|
|
|
DMD
|
[NCBI]
|
0.000147399
|
|
|
polycystic kidneys
|
[NCBI]
|
0.000136621
|
|
|
RB1
|
[NCBI]
|
0.000135616
|
|
|
MAFD2
|
[NCBI]
|
0.000123939
|
|
|
IP
|
[NCBI]
|
0.000119358
|
|
|
HSAS
|
[NCBI]
|
0.000118901
|
|
|
omphalocele
|
[NCBI]
|
0.000115139
|
|
|
SHFM1
|
[NCBI]
|
0.000112054
|
|
|
gastric cancer
|
[NCBI]
|
0.00011093
|
|
|
hypertelorism with esophageal abnormality and hypospadias
|
[NCBI]
|
0.000108375
|
|
|
SMA1
|
[NCBI]
|
0.000104999
|
|
|
thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness
|
[NCBI]
|
0.000102246
|
|
|
arthrogryposis, ectodermal dysplasia, cleft lip/palate, and developmental delay
|
[NCBI]
|
0.000102246
|
|
|
tetra-amelia with ectodermal dysplasia and lacrimal duct abnormalities
|
[NCBI]
|
0.000102246
|
|
|
fitzsimmons-guilbert syndrome
|
[NCBI]
|
0.000102246
|
|
|
hydrocephalus, tall stature, joint laxity, and kyphoscoliosis
|
[NCBI]
|
0.000102246
|
|
|
mental retardation syndrome, belgian type
|
[NCBI]
|
0.000102246
|
|
|
frontonasal dysplasia with alar clefts
|
[NCBI]
|
0.000102246
|
|
|
retinal nonattachment and falciform detachment
|
[NCBI]
|
0.000102246
|
|
|
HEMB
|
[NCBI]
|
0.000100503
|
|
|
BMD
|
[NCBI]
|
9.64715e-05
|
|
|
BHC
|
[NCBI]
|
8.81138e-05
|
|
|
AFD1
|
[NCBI]
|
8.54666e-05
|
|
|
AMC
|
[NCBI]
|
8.52227e-05
|
|
|
VWS
|
[NCBI]
|
8.09441e-05
|
|
|
OFD1
|
[NCBI]
|
8.06882e-05
|
|
|
MNS
|
[NCBI]
|
8.06882e-05
|
|
|
MKS1
|
[NCBI]
|
7.79677e-05
|
|
|
thalamic degeneration, symmetric infantile
|
[NCBI]
|
7.45944e-05
|
|
|
hernia, anterior diaphragmatic
|
[NCBI]
|
7.45944e-05
|
|
|
coxoauricular syndrome
|
[NCBI]
|
7.45944e-05
|
|
|
hydrops fetalis, idiopathic
|
[NCBI]
|
7.45944e-05
|
|
|
muscular dystrophy, scapulohumeral
|
[NCBI]
|
7.45944e-05
|
|
|
lowry-maclean syndrome
|
[NCBI]
|
7.45944e-05
|
|
|
slipped femoral capital epiphyses
|
[NCBI]
|
7.45944e-05
|
|
|
fibromuscular dysplasia of arteries
|
[NCBI]
|
7.45944e-05
|
|
|
MCOPCT3
|
[NCBI]
|
7.45944e-05
|
|
|
chorea, benign familial
|
[NCBI]
|
7.45944e-05
|
|
|
NHS
|
[NCBI]
|
7.45349e-05
|
|
|
GLC3A
|
[NCBI]
|
7.45349e-05
|
|
|
UCMD
|
[NCBI]
|
7.45349e-05
|
|
|
SMN1
|
[NCBI]
|
7.34608e-05
|
|
|
CHAC
|
[NCBI]
|
7.27001e-05
|
|
|
RP
|
[NCBI]
|
7.15105e-05
|
|
|
PMD
|
[NCBI]
|
6.46784e-05
|
|
|
AD
|
[NCBI]
|
6.44926e-05
|
|
|
DTGA1
|
[NCBI]
|
6.42333e-05
|
|
|
tracheoesophageal fistula with or without esophageal atresia
|
[NCBI]
|
6.42333e-05
|
|
|
fetal akinesia syndrome, x-linked
|
[NCBI]
|
6.42333e-05
|
|
|
scalp defects and postaxial polydactyly
|
[NCBI]
|
6.42333e-05
|
|
|
muscular dystrophy, hemizygous lethal type
|
[NCBI]
|
6.42333e-05
|
|
|
BOR1
|
[NCBI]
|
6.33544e-05
|
|
|
dystrophia myotonica 1
|
[NCBI]
|
6.13315e-05
|
|
|
NHS
|
[NCBI]
|
6.07809e-05
|
|
|
FPLD2
|
[NCBI]
|
5.94961e-05
|
|
|
brachydactyly-ectrodactyly with fibular aplasia or hypoplasia
|
[NCBI]
|
5.75475e-05
|
|
|
neuropathy, ataxia, and retinitis pigmentosa
|
[NCBI]
|
5.75475e-05
|
|
|
rett syndrome, atypical, cdkl5-related
|
[NCBI]
|
5.75475e-05
|
|
|
TS
|
[NCBI]
|
5.75475e-05
|
|
|
lactase deficiency, congenital
|
[NCBI]
|
5.75475e-05
|
|
|
SPG3A
|
[NCBI]
|
5.71526e-05
|
|
|
RTT
|
[NCBI]
|
5.26221e-05
|
|
|
porencephaly, familial
|
[NCBI]
|
5.26073e-05
|
|
|
pseudodiastrophic dysplasia
|
[NCBI]
|
5.26073e-05
|
|
|
wildervanck syndrome
|
[NCBI]
|
5.26073e-05
|
|
|
microcephaly with spastic quadriplegia
|
[NCBI]
|
5.26073e-05
|
|
|
ichthyosis, lamellar, autosomal dominant
|
[NCBI]
|
5.26073e-05
|
|
|
schneckenbecken dysplasia
|
[NCBI]
|
5.26073e-05
|
|
|
BRCA1
|
[NCBI]
|
5.1767e-05
|
|
|
autism
|
[NCBI]
|
5.00095e-05
|
|
|
RSTS
|
[NCBI]
|
4.91829e-05
|
|
|
STHAG1
|
[NCBI]
|
4.86951e-05
|
|
|
ectodermal dysplasia, hypohidrotic, with immune deficiency
|
[NCBI]
|
4.86951e-05
|
|
|
severe combined immunodeficiency, autosomal recessive, t cell-negative, b cell-positive, nk cell-negative
|
[NCBI]
|
4.86951e-05
|
|
|
neural tube defects, x-linked
|
[NCBI]
|
4.86951e-05
|
|
|
serpentine fibula-polycystic kidney syndrome
|
[NCBI]
|
4.86951e-05
|
|
|
leber optic atrophy
|
[NCBI]
|
4.66305e-05
|
|
|
cerebral palsy, spastic, symmetric, autosomal recessive
|
[NCBI]
|
4.54624e-05
|
|
|
hypospadias, autosomal
|
[NCBI]
|
4.54624e-05
|
|
|
atrial septal defect with atrioventricular conduction defects
|
[NCBI]
|
4.54624e-05
|
|
|
pancreas, annular
|
[NCBI]
|
4.54624e-05
|
|
|
polymicrogyria, bilateral frontoparietal
|
[NCBI]
|
4.54624e-05
|
|
|
PKD1
|
[NCBI]
|
4.50368e-05
|
|
|
UBE3A
|
[NCBI]
|
4.48154e-05
|
|
|
osteogenesis imperfecta, type iia
|
[NCBI]
|
4.43123e-05
|
|
|
TSD
|
[NCBI]
|
4.40592e-05
|
|
|
ACH
|
[NCBI]
|
4.3682e-05
|
|
|
ATXN8OS
|
[NCBI]
|
4.29241e-05
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
4.27124e-05
|
|
|
deafness, autosomal recessive
|
[NCBI]
|
4.27124e-05
|
|
|
spinal muscular atrophy, proximal, adult, autosomal dominant
|
[NCBI]
|
4.27124e-05
|
|
|
BPP
|
[NCBI]
|
4.27124e-05
|
|
|
PD
|
[NCBI]
|
4.26757e-05
|
|
|
CCM
|
[NCBI]
|
4.21456e-05
|
|
|
ARPKD
|
[NCBI]
|
4.07859e-05
|
|
|
EDM4
|
[NCBI]
|
4.03235e-05
|
|
|
CPAF
|
[NCBI]
|
4.03235e-05
|
|
|
PDP
|
[NCBI]
|
4.03235e-05
|
|
|
SPG10
|
[NCBI]
|
4.03235e-05
|
|
|
HMI
|
[NCBI]
|
4.02111e-05
|
|
|
MTM1
|
[NCBI]
|
4.01295e-05
|
|
|
RS1
|
[NCBI]
|
3.86002e-05
|
|
|
NR0B1
|
[NCBI]
|
3.83033e-05
|
|
|
BPES
|
[NCBI]
|
3.82471e-05
|
|
|
LGMD2E
|
[NCBI]
|
3.82148e-05
|
|
|
hydrocephalus
|
[NCBI]
|
3.82148e-05
|
|
|
GJB2
|
[NCBI]
|
3.74548e-05
|
|
|
DAZ
|
[NCBI]
|
3.66665e-05
|
|
|
feingold syndrome
|
[NCBI]
|
3.63299e-05
|
|
|
coloboma, ocular
|
[NCBI]
|
3.63299e-05
|
|
|
DGI1
|
[NCBI]
|
3.63299e-05
|
|
|
ichthyosis vulgaris
|
[NCBI]
|
3.63299e-05
|
|
|
RP2
|
[NCBI]
|
3.54607e-05
|
|
|
abdominal muscles, absence of, with urinary tract abnormality and cryptorchidism
|
[NCBI]
|
3.46281e-05
|
|
|
plasminogen deficiency, type i
|
[NCBI]
|
3.46281e-05
|
|
|
MCDC1
|
[NCBI]
|
3.46281e-05
|
|
|
gaucher disease, type ii
|
[NCBI]
|
3.46281e-05
|
|
|
phenylketonuria
|
[NCBI]
|
3.43755e-05
|
|
|
PLP1
|
[NCBI]
|
3.41636e-05
|
|
|
PWS
|
[NCBI]
|
3.34316e-05
|
|
|
CDH1
|
[NCBI]
|
3.33742e-05
|
|
|
OPD1
|
[NCBI]
|
3.30786e-05
|
|
|
NCIE1
|
[NCBI]
|
3.30786e-05
|
|
|
PXE
|
[NCBI]
|
3.27759e-05
|
|
|
LGMD2I
|
[NCBI]
|
3.16579e-05
|
|
|
anemia, dyserythropoietic congenital, type i
|
[NCBI]
|
3.16579e-05
|
|
|
NDUFA8
|
[NCBI]
|
3.14689e-05
|
|
|
NDUFS7
|
[NCBI]
|
3.14689e-05
|
|
|
TSC2
|
[NCBI]
|
3.12902e-05
|
|
|
LRRK2
|
[NCBI]
|
3.09774e-05
|
|
|
MCPH1
|
[NCBI]
|
3.03476e-05
|
|
|
CTHM
|
[NCBI]
|
3.03476e-05
|
|
|
NDUFB6
|
[NCBI]
|
2.94518e-05
|
|
|
robinow syndrome, autosomal recessive
|
[NCBI]
|
2.91329e-05
|
|
|
pseudoxanthoma elasticum, forme fruste
|
[NCBI]
|
2.91329e-05
|
|
|
MKKS
|
[NCBI]
|
2.80019e-05
|
|
|
CORD2
|
[NCBI]
|
2.80019e-05
|
|
|
NDUFV1
|
[NCBI]
|
2.7953e-05
|
|
|
frank-ter haar syndrome
|
[NCBI]
|
2.7953e-05
|
|
|
fragile x mental retardation syndrome
|
[NCBI]
|
2.74123e-05
|
|
|
BGS
|
[NCBI]
|
2.69447e-05
|
|
|
camurati-engelmann disease
|
[NCBI]
|
2.69447e-05
|
|
|
weaver syndrome
|
[NCBI]
|
2.69447e-05
|
|
|
NDUFS1
|
[NCBI]
|
2.67595e-05
|
|
|
SLOS
|
[NCBI]
|
2.66503e-05
|
|
|
CBAVD
|
[NCBI]
|
2.59531e-05
|
|
|
KAL2
|
[NCBI]
|
2.59531e-05
|
|
|
bethlem myopathy
|
[NCBI]
|
2.59531e-05
|
|
|
COL1A1
|
[NCBI]
|
2.57747e-05
|
|
|
VPS13A
|
[NCBI]
|
2.57677e-05
|
|
|
NDUFS8
|
[NCBI]
|
2.57677e-05
|
|
|
masa syndrome
|
[NCBI]
|
2.50201e-05
|
|
|
pfeiffer syndrome
|
[NCBI]
|
2.414e-05
|
|
|
CDPX1
|
[NCBI]
|
2.414e-05
|
|
|
osteogenesis imperfecta, type iii
|
[NCBI]
|
2.414e-05
|
|
|
DGS
|
[NCBI]
|
2.40283e-05
|
|
|
DSG4
|
[NCBI]
|
2.35202e-05
|
|
|
CXORF5
|
[NCBI]
|
2.23915e-05
|
|
|
FFI
|
[NCBI]
|
2.21384e-05
|
|
|
OCRL
|
[NCBI]
|
2.18996e-05
|
|
|
SCDO1
|
[NCBI]
|
2.17692e-05
|
|
|
hemophilia a
|
[NCBI]
|
2.14652e-05
|
|
|
CRC
|
[NCBI]
|
2.11567e-05
|
|
|
FDH
|
[NCBI]
|
2.10562e-05
|
|
|
AHC
|
[NCBI]
|
2.10562e-05
|
|
|
ehlers-danlos syndrome, type iv, autosomal dominant
|
[NCBI]
|
2.10562e-05
|
|
|
SEDC
|
[NCBI]
|
2.10562e-05
|
|
|
CPX
|
[NCBI]
|
2.10562e-05
|
|
|
gaucher disease, type iii
|
[NCBI]
|
2.10562e-05
|
|
|
PKHD1
|
[NCBI]
|
2.06326e-05
|
|
|
SMA2
|
[NCBI]
|
2.03766e-05
|
|
|
SLC26A2
|
[NCBI]
|
2.0265e-05
|
|
|
VHL
|
[NCBI]
|
2.00528e-05
|
|
|
USH2A
|
[NCBI]
|
1.99192e-05
|
|
|
AFP
|
[NCBI]
|
1.98253e-05
|
|
|
DFNB1
|
[NCBI]
|
1.97279e-05
|
|
|
GLDC
|
[NCBI]
|
1.9593e-05
|
|
|
DMD
|
[NCBI]
|
1.95338e-05
|
|
|
POF1
|
[NCBI]
|
1.91077e-05
|
|
|
SPDA1
|
[NCBI]
|
1.91077e-05
|
|
|
HR
|
[NCBI]
|
1.8712e-05
|
|
|
leiomyomatosis and renal cell cancer, hereditary
|
[NCBI]
|
1.8514e-05
|
|
|
STGD1
|
[NCBI]
|
1.8514e-05
|
|
|
SLC25A20
|
[NCBI]
|
1.79481e-05
|
|
|
PMM2
|
[NCBI]
|
1.79481e-05
|
|
|
STL1
|
[NCBI]
|
1.7945e-05
|
|
|
NKX2E
|
[NCBI]
|
1.77145e-05
|
|
|
MTM1
|
[NCBI]
|
1.74901e-05
|
|
|
RBS
|
[NCBI]
|
1.73991e-05
|
|
|
SGBS1
|
[NCBI]
|
1.68747e-05
|
|
|
CD40LG
|
[NCBI]
|
1.64839e-05
|
|
|
PGL1
|
[NCBI]
|
1.63705e-05
|
|
|
HCH
|
[NCBI]
|
1.58853e-05
|
|
|
IKBKG
|
[NCBI]
|
1.57904e-05
|
|
|
GDXY
|
[NCBI]
|
1.56295e-05
|
|
|
ABCC6
|
[NCBI]
|
1.54732e-05
|
|
|
coproporphyria
|
[NCBI]
|
1.54732e-05
|
|
|
HIGM1
|
[NCBI]
|
1.5418e-05
|
|
|
walker-warburg syndrome
|
[NCBI]
|
1.5418e-05
|
|
|
OCA2
|
[NCBI]
|
1.5418e-05
|
|
|
mitochondrial complex i deficiency
|
[NCBI]
|
1.5418e-05
|
|
|
campomelic dysplasia
|
[NCBI]
|
1.5418e-05
|
|
|
ASPA
|
[NCBI]
|
1.5321e-05
|
|
|
TPI1
|
[NCBI]
|
1.51729e-05
|
|
|
SMA3
|
[NCBI]
|
1.49675e-05
|
|
|
CLN3
|
[NCBI]
|
1.49675e-05
|
|
|
kartagener syndrome
|
[NCBI]
|
1.49675e-05
|
|
|
MDLS
|
[NCBI]
|
1.49675e-05
|
|
|
nijmegen breakage syndrome
|
[NCBI]
|
1.45329e-05
|
|
|
CDG1A
|
[NCBI]
|
1.45329e-05
|
|
|
ATS
|
[NCBI]
|
1.45329e-05
|
|
|
BCNS
|
[NCBI]
|
1.44849e-05
|
|
|
aHUS
|
[NCBI]
|
1.41134e-05
|
|
|
MTATP6
|
[NCBI]
|
1.41112e-05
|
|
|
COL7A1
|
[NCBI]
|
1.38747e-05
|
|
|
MJD
|
[NCBI]
|
1.35289e-05
|
|
|
FLNA
|
[NCBI]
|
1.33244e-05
|
|
|
FOP
|
[NCBI]
|
1.33164e-05
|
|
|
RPGR
|
[NCBI]
|
1.28244e-05
|
|
|
KCNQ1
|
[NCBI]
|
1.26366e-05
|
|
|
PKD2
|
[NCBI]
|
1.2545e-05
|
|
|
BIRC1
|
[NCBI]
|
1.21937e-05
|
|
|
JAK3
|
[NCBI]
|
1.21937e-05
|
|
|
EDMD
|
[NCBI]
|
1.18718e-05
|
|
|
DYT1
|
[NCBI]
|
1.15385e-05
|
|
|
SCS
|
[NCBI]
|
1.15385e-05
|
|
|
sotos syndrome
|
[NCBI]
|
1.15385e-05
|
|
|
ARSA
|
[NCBI]
|
1.14047e-05
|
|
|
NPS
|
[NCBI]
|
1.09017e-05
|
|
|
CMT1B
|
[NCBI]
|
1.09017e-05
|
|
|
LCT
|
[NCBI]
|
1.05911e-05
|
|
|
BTK
|
[NCBI]
|
1.04061e-05
|
|
|
mucopolysaccharidosis type ii
|
[NCBI]
|
1.03459e-05
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
1.03459e-05
|
|
|
HHT
|
[NCBI]
|
1.03021e-05
|
|
|
down syndrome
|
[NCBI]
|
1.03021e-05
|
|
|
NF2
|
[NCBI]
|
1.03021e-05
|
|
|
MHS1
|
[NCBI]
|
1.00152e-05
|
|
|
DRPLA
|
[NCBI]
|
9.91318e-06
|
|
|
AIRE
|
[NCBI]
|
9.83349e-06
|
|
|
WS1
|
[NCBI]
|
9.73653e-06
|
|
|
CLS
|
[NCBI]
|
9.73653e-06
|
|
|
TYR
|
[NCBI]
|
9.67353e-06
|
|
|
MYOC
|
[NCBI]
|
9.41768e-06
|
|
|
WAS
|
[NCBI]
|
9.2269e-06
|
|
|
ED1
|
[NCBI]
|
9.20245e-06
|
|
|
FBN1
|
[NCBI]
|
9.17426e-06
|
|
|
CFH
|
[NCBI]
|
8.80802e-06
|
|
|
MAPT
|
[NCBI]
|
8.63463e-06
|
|
|
von willebrand disease
|
[NCBI]
|
8.50852e-06
|
|
|
HOS
|
[NCBI]
|
7.99004e-06
|
|
|
HMBS
|
[NCBI]
|
7.67281e-06
|
|
|
MECP2
|
[NCBI]
|
7.63812e-06
|
|
|
prostate cancer
|
[NCBI]
|
7.54912e-06
|
|
|
CES
|
[NCBI]
|
7.54912e-06
|
|
|
porphyria variegata
|
[NCBI]
|
7.13086e-06
|
|
|
gaucher disease, type i
|
[NCBI]
|
7.13086e-06
|
|
|
CHH
|
[NCBI]
|
7.13086e-06
|
|
|
PSEN1
|
[NCBI]
|
7.0849e-06
|
|
|
apc gene
|
[NCBI]
|
6.93417e-06
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
6.92976e-06
|
|
|
MEN2A
|
[NCBI]
|
6.92976e-06
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
6.54281e-06
|
|
|
TTR
|
[NCBI]
|
6.4641e-06
|
|
|
AT
|
[NCBI]
|
6.41457e-06
|
|
|
CMT1A
|
[NCBI]
|
6.35663e-06
|
|
|
EGFR
|
[NCBI]
|
6.21905e-06
|
|
|
PMP22
|
[NCBI]
|
6.1983e-06
|
|
|
menkes disease
|
[NCBI]
|
6.17513e-06
|
|
|
glycogen storage disease ii
|
[NCBI]
|
6.17513e-06
|
|
|
COMP
|
[NCBI]
|
5.93098e-06
|
|
|
PRNP
|
[NCBI]
|
5.88414e-06
|
|
|
FMR1
|
[NCBI]
|
5.70186e-06
|
|
|
PSACH
|
[NCBI]
|
5.6573e-06
|
|
|
PLG
|
[NCBI]
|
5.46368e-06
|
|
|
IS1
|
[NCBI]
|
5.41125e-06
|
|
|
lynch syndrome i
|
[NCBI]
|
5.33304e-06
|
|
|
PSORS1
|
[NCBI]
|
4.73075e-06
|
|
|
KLK3
|
[NCBI]
|
4.57641e-06
|
|
|
PI
|
[NCBI]
|
4.38577e-06
|
|
|
LS
|
[NCBI]
|
4.31632e-06
|
|
|
ACHE
|
[NCBI]
|
4.09175e-06
|
|
|
LDLR
|
[NCBI]
|
3.70831e-06
|
|
|
FTD
|
[NCBI]
|
3.30296e-06
|
|
|
BWS
|
[NCBI]
|
3.14829e-06
|
|
|
fabry disease
|
[NCBI]
|
3.03201e-06
|
|
|
WT1
|
[NCBI]
|
2.83344e-06
|
|
|
WHS
|
[NCBI]
|
2.73778e-06
|
|
|
CD
|
[NCBI]
|
2.73778e-06
|
|
|
G6PD
|
[NCBI]
|
2.69585e-06
|
|
|
MFS
|
[NCBI]
|
2.69348e-06
|
|
|
IDDM
|
[NCBI]
|
2.38072e-06
|
|
|
FRDA
|
[NCBI]
|
1.75942e-06
|
|
|
AR
|
[NCBI]
|
1.501e-06
|
|
|
SMS
|
[NCBI]
|
1.43372e-06
|
|
|
MS
|
[NCBI]
|
1.37373e-06
|
|
|
MODY
|
[NCBI]
|
8.25891e-07
|
|
|
HBB
|
[NCBI]
|
4.83164e-07
|
|
|
SHH
|
[NCBI]
|
2.75194e-07
|
|
|
SMAX1
|
[NCBI]
|
2.69412e-07
|
|
|
CPI
|
[NCBI]
|
2.56243e-07
|
|
|
AIS
|
[NCBI]
|
8.24215e-08
|
|
|
APOE
|
[NCBI]
|
8.06523e-08
|
|
|
ALD
|
[NCBI]
|
6.56196e-12
|
|