|
OMIM |
Link |
Information gain |
01 |
|
pentosuria
|
[NCBI]
|
0.00272355
|
|
|
fanconi renotubular syndrome
|
[NCBI]
|
0.00122153
|
|
|
abdominal obesity-metabolic syndrome
|
[NCBI]
|
0.00105589
|
|
|
medium chain 3-ketoacyl-coa thiolase deficiency
|
[NCBI]
|
0.00101415
|
|
|
circulating adiponectin quantitative trait locus on chromosome 5
|
[NCBI]
|
0.00101415
|
|
|
tryptophanuria with dwarfism
|
[NCBI]
|
0.00101415
|
|
|
circulating adiponectin quantitative trait locus on chromosome 14
|
[NCBI]
|
0.00101415
|
|
|
hydroxykynureninuria
|
[NCBI]
|
0.000621736
|
|
|
thyroid hormonogenesis, genetic defect in, 4
|
[NCBI]
|
0.000590318
|
|
|
gout susceptibility 1
|
[NCBI]
|
0.000564232
|
|
|
carnitine deficiency, myopathic
|
[NCBI]
|
0.00052247
|
|
|
FEB1
|
[NCBI]
|
0.000462747
|
|
|
RA
|
[NCBI]
|
0.000206622
|
|
|
hyperpipecolatemia
|
[NCBI]
|
0.00014868
|
|
|
SLE
|
[NCBI]
|
0.00014353
|
|
|
maple syrup urine disease
|
[NCBI]
|
0.000136498
|
|
|
CDS
|
[NCBI]
|
0.000126245
|
|
|
sitosterolemia
|
[NCBI]
|
0.000124022
|
|
|
molybdenum cofactor deficiency
|
[NCBI]
|
0.000124022
|
|
|
cirrhosis, familial
|
[NCBI]
|
0.000119993
|
|
|
GH1
|
[NCBI]
|
0.000105456
|
|
|
OCRL
|
[NCBI]
|
9.87518e-05
|
|
|
hyperoxaluria, primary, type i
|
[NCBI]
|
9.7801e-05
|
|
|
glycogen storage disease v
|
[NCBI]
|
9.68782e-05
|
|
|
pyruvate kinase deficiency of red cells
|
[NCBI]
|
9.03413e-05
|
|
|
MCPHA
|
[NCBI]
|
8.82116e-05
|
|
|
patterson pseudoleprechaunism syndrome
|
[NCBI]
|
8.82116e-05
|
|
|
hyper-beta-alaninemia
|
[NCBI]
|
8.82116e-05
|
|
|
PPARD
|
[NCBI]
|
8.76667e-05
|
|
|
galactosemia
|
[NCBI]
|
8.43348e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
8.43348e-05
|
|
|
carotenemia, familial
|
[NCBI]
|
7.97469e-05
|
|
|
ceroid storage disease
|
[NCBI]
|
7.97469e-05
|
|
|
chorea, benign familial
|
[NCBI]
|
7.97469e-05
|
|
|
lathosterolosis
|
[NCBI]
|
7.42561e-05
|
|
|
GBA2
|
[NCBI]
|
7.36979e-05
|
|
|
ABCC6
|
[NCBI]
|
7.20854e-05
|
|
|
anemia, hypochromic microcytic
|
[NCBI]
|
7.01776e-05
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
6.98338e-05
|
|
|
SDS
|
[NCBI]
|
6.72068e-05
|
|
|
congenital disorder of glycosylation, type i/iix
|
[NCBI]
|
6.42341e-05
|
|
|
MRT1
|
[NCBI]
|
6.19279e-05
|
|
|
MOCS2
|
[NCBI]
|
5.99231e-05
|
|
|
PRKCH
|
[NCBI]
|
5.99231e-05
|
|
|
DDOST
|
[NCBI]
|
5.99231e-05
|
|
|
HCA2
|
[NCBI]
|
5.99137e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
5.84969e-05
|
|
|
hydrops-ectopic calcification-moth-eaten skeletal dysplasia
|
[NCBI]
|
5.81263e-05
|
|
|
acyl-coa dehydrogenase, short-chain, deficiency of
|
[NCBI]
|
5.81263e-05
|
|
|
dentinogenesis imperfecta, shields type iii
|
[NCBI]
|
5.81263e-05
|
|
|
sea-blue histiocyte disease
|
[NCBI]
|
5.65201e-05
|
|
|
gitelman syndrome
|
[NCBI]
|
5.65201e-05
|
|
|
gracile syndrome
|
[NCBI]
|
5.65201e-05
|
|
|
growth hormone insensitivity with immunodeficiency
|
[NCBI]
|
5.65201e-05
|
|
|
corticosterone methyloxidase type ii deficiency
|
[NCBI]
|
5.50618e-05
|
|
|
PEX5
|
[NCBI]
|
5.47276e-05
|
|
|
3-@methylcrotonyl-coa carboxylase 1 deficiency
|
[NCBI]
|
5.37269e-05
|
|
|
ACADM
|
[NCBI]
|
5.29068e-05
|
|
|
drug metabolism, poor, cyp2d6-related
|
[NCBI]
|
5.24962e-05
|
|
|
hemochromatosis, neonatal
|
[NCBI]
|
5.24962e-05
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
5.24962e-05
|
|
|
adenylyl cyclase, soluble
|
[NCBI]
|
5.13558e-05
|
|
|
CDG2C
|
[NCBI]
|
5.02908e-05
|
|
|
xanthinuria, type i
|
[NCBI]
|
5.02908e-05
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
4.92944e-05
|
|
|
osteoporosis, juvenile
|
[NCBI]
|
4.92944e-05
|
|
|
PHA1
|
[NCBI]
|
4.92944e-05
|
|
|
COMMD1
|
[NCBI]
|
4.885e-05
|
|
|
fructosuria
|
[NCBI]
|
4.885e-05
|
|
|
MOCS1
|
[NCBI]
|
4.885e-05
|
|
|
hyperlipoproteinemia, type i
|
[NCBI]
|
4.83578e-05
|
|
|
HSAN2
|
[NCBI]
|
4.83578e-05
|
|
|
SDHA
|
[NCBI]
|
4.68543e-05
|
|
|
GHR
|
[NCBI]
|
4.67698e-05
|
|
|
hartnup disorder
|
[NCBI]
|
4.66382e-05
|
|
|
BFLS
|
[NCBI]
|
4.66382e-05
|
|
|
thyroid hormonogenesis, genetic defect in, 2a
|
[NCBI]
|
4.66382e-05
|
|
|
CMDD
|
[NCBI]
|
4.58448e-05
|
|
|
hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
|
[NCBI]
|
4.58448e-05
|
|
|
pyruvate carboxylase deficiency
|
[NCBI]
|
4.43705e-05
|
|
|
BCS1L
|
[NCBI]
|
4.37767e-05
|
|
|
AQP7
|
[NCBI]
|
4.37767e-05
|
|
|
FSTL3
|
[NCBI]
|
4.25369e-05
|
|
|
MADA
|
[NCBI]
|
4.23937e-05
|
|
|
ALMS
|
[NCBI]
|
4.17876e-05
|
|
|
donohue syndrome
|
[NCBI]
|
4.17876e-05
|
|
|
IVA
|
[NCBI]
|
4.17876e-05
|
|
|
histidinemia
|
[NCBI]
|
4.17876e-05
|
|
|
ANKH
|
[NCBI]
|
4.1436e-05
|
|
|
GNB3
|
[NCBI]
|
4.04462e-05
|
|
|
CCAL2
|
[NCBI]
|
4.01014e-05
|
|
|
HFTC
|
[NCBI]
|
3.95784e-05
|
|
|
gaucher disease, type iii
|
[NCBI]
|
3.95784e-05
|
|
|
lactase persistence
|
[NCBI]
|
3.90729e-05
|
|
|
LAD
|
[NCBI]
|
3.90729e-05
|
|
|
CPT2
|
[NCBI]
|
3.87239e-05
|
|
|
SPR
|
[NCBI]
|
3.87239e-05
|
|
|
ASL
|
[NCBI]
|
3.87239e-05
|
|
|
HNFJ
|
[NCBI]
|
3.811e-05
|
|
|
CDSP
|
[NCBI]
|
3.811e-05
|
|
|
PEX7
|
[NCBI]
|
3.79644e-05
|
|
|
mannosidosis, alpha b, lysosomal
|
[NCBI]
|
3.6772e-05
|
|
|
CDPX2
|
[NCBI]
|
3.6772e-05
|
|
|
hypophosphatasia, infantile
|
[NCBI]
|
3.6772e-05
|
|
|
CYP2D6
|
[NCBI]
|
3.66025e-05
|
|
|
growth hormone insensitivity syndrome
|
[NCBI]
|
3.63514e-05
|
|
|
KL
|
[NCBI]
|
3.59867e-05
|
|
|
COH1
|
[NCBI]
|
3.44098e-05
|
|
|
pyruvate decarboxylase deficiency
|
[NCBI]
|
3.40503e-05
|
|
|
ACADS
|
[NCBI]
|
3.25122e-05
|
|
|
CDG1A
|
[NCBI]
|
3.2374e-05
|
|
|
PI
|
[NCBI]
|
3.20335e-05
|
|
|
hypophosphatemic rickets, x-linked dominant
|
[NCBI]
|
3.17539e-05
|
|
|
CLN3
|
[NCBI]
|
3.14535e-05
|
|
|
GCDH
|
[NCBI]
|
3.09734e-05
|
|
|
costello syndrome
|
[NCBI]
|
3.08709e-05
|
|
|
CTNS
|
[NCBI]
|
3.08709e-05
|
|
|
SCD
|
[NCBI]
|
3.06242e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
2.99619e-05
|
|
|
PKLR
|
[NCBI]
|
2.96471e-05
|
|
|
ornithine transcarbamylase deficiency, hyperammonemia due to
|
[NCBI]
|
2.92528e-05
|
|
|
GCCR
|
[NCBI]
|
2.90471e-05
|
|
|
GSR
|
[NCBI]
|
2.90471e-05
|
|
|
porphyria, acute intermittent
|
[NCBI]
|
2.90001e-05
|
|
|
ABL
|
[NCBI]
|
2.90001e-05
|
|
|
ADIPOQ
|
[NCBI]
|
2.87606e-05
|
|
|
CYP17A1
|
[NCBI]
|
2.87606e-05
|
|
|
ITGB2
|
[NCBI]
|
2.79496e-05
|
|
|
wolman disease
|
[NCBI]
|
2.65099e-05
|
|
|
FGF23
|
[NCBI]
|
2.52611e-05
|
|
|
WRN
|
[NCBI]
|
2.50931e-05
|
|
|
gaucher disease, type i
|
[NCBI]
|
2.50931e-05
|
|
|
protoporphyria, erythropoietic
|
[NCBI]
|
2.48793e-05
|
|
|
mucopolysaccharidosis type iva
|
[NCBI]
|
2.46941e-05
|
|
|
CF
|
[NCBI]
|
2.44011e-05
|
|
|
menkes disease
|
[NCBI]
|
2.366e-05
|
|
|
UCN
|
[NCBI]
|
2.34916e-05
|
|
|
thrombasthenia of glanzmann and naegeli
|
[NCBI]
|
2.31598e-05
|
|
|
ALD
|
[NCBI]
|
2.26962e-05
|
|
|
LS
|
[NCBI]
|
2.26779e-05
|
|
|
cortisol 11-beta-ketoreductase deficiency
|
[NCBI]
|
2.2145e-05
|
|
|
VEGF
|
[NCBI]
|
2.18192e-05
|
|
|
PPARG
|
[NCBI]
|
2.0266e-05
|
|
|
PPARA
|
[NCBI]
|
1.89605e-05
|
|
|
PMCH
|
[NCBI]
|
1.80725e-05
|
|
|
GAL
|
[NCBI]
|
1.74756e-05
|
|
|
BCHE
|
[NCBI]
|
1.74756e-05
|
|
|
ADCYAP1
|
[NCBI]
|
1.59683e-05
|
|
|
KSS
|
[NCBI]
|
1.56245e-05
|
|
|
EIG
|
[NCBI]
|
1.54483e-05
|
|
|
GPI
|
[NCBI]
|
1.3431e-05
|
|
|
INS
|
[NCBI]
|
1.1957e-05
|
|
|
PTH
|
[NCBI]
|
1.17645e-05
|
|
|
GHRH
|
[NCBI]
|
1.13527e-05
|
|
|
CP
|
[NCBI]
|
1.12757e-05
|
|
|
SLOS
|
[NCBI]
|
1.08393e-05
|
|
|
AD
|
[NCBI]
|
1.06696e-05
|
|
|
PXE
|
[NCBI]
|
1.03486e-05
|
|
|
CAT
|
[NCBI]
|
8.11479e-06
|
|
|
FRAP1
|
[NCBI]
|
6.76463e-06
|
|
|
BWS
|
[NCBI]
|
6.73266e-06
|
|
|
XDH
|
[NCBI]
|
6.42425e-06
|
|
|
APOB
|
[NCBI]
|
4.14197e-06
|
|
|
VDR
|
[NCBI]
|
2.17462e-06
|
|
|
ADA
|
[NCBI]
|
2.01341e-06
|
|
|
TNF
|
[NCBI]
|
1.82284e-06
|
|
|
NPPA
|
[NCBI]
|
1.65327e-06
|
|
|
PRL
|
[NCBI]
|
1.47664e-06
|
|
|
G6PD
|
[NCBI]
|
1.06974e-06
|
|
|
FMF
|
[NCBI]
|
1.03215e-06
|
|
|
F3
|
[NCBI]
|
1.00413e-06
|
|
|
CFTR
|
[NCBI]
|
7.07198e-07
|
|
|
MPO
|
[NCBI]
|
5.59403e-07
|
|
|
EPO
|
[NCBI]
|
5.57746e-07
|
|
|
APC
|
[NCBI]
|
5.04303e-07
|
|
|
GFAP
|
[NCBI]
|
4.19952e-07
|
|
|
TH
|
[NCBI]
|
2.95197e-07
|
|
|
ACHE
|
[NCBI]
|
2.84812e-07
|
|
|
APOE
|
[NCBI]
|
1.51519e-07
|
|
|
CRH
|
[NCBI]
|
8.32113e-08
|
|
|
NPY
|
[NCBI]
|
1.52647e-08
|
|