|
OMIM |
Link |
Information gain |
01 |
|
asparagus, specific smell hypersensitivity
|
[NCBI]
|
0.00275058
|
|
|
AVP
|
[NCBI]
|
0.00207091
|
|
|
beta-aminoisobutyric acid, urinary excretion of
|
[NCBI]
|
0.00181336
|
|
|
tryptophanuria with dwarfism
|
[NCBI]
|
0.00136729
|
|
|
valinemia
|
[NCBI]
|
0.00105678
|
|
|
methionine malabsorption syndrome
|
[NCBI]
|
0.00105678
|
|
|
hydroxykynureninuria
|
[NCBI]
|
0.000939888
|
|
|
iminoglycinuria
|
[NCBI]
|
0.000807956
|
|
|
cerebellar ataxia and hypogonadotropic hypogonadism
|
[NCBI]
|
0.000807956
|
|
|
myopathy with deficiency of succinate dehydrogenase and aconitase
|
[NCBI]
|
0.000726199
|
|
|
osteolysis, hereditary, of carpal bones with nephropathy
|
[NCBI]
|
0.000642417
|
|
|
SRS
|
[NCBI]
|
0.00062574
|
|
|
MCKD1
|
[NCBI]
|
0.000549946
|
|
|
hartnup disorder
|
[NCBI]
|
0.000364888
|
|
|
megaloblastic anemia 1
|
[NCBI]
|
0.00030883
|
|
|
pseudohermaphroditism, incomplete male, type i
|
[NCBI]
|
0.000296917
|
|
|
xanthinuria, type i
|
[NCBI]
|
0.000242987
|
|
|
hyperlysinemia
|
[NCBI]
|
0.000223847
|
|
|
histidinemia
|
[NCBI]
|
0.000198349
|
|
|
dent disease 1
|
[NCBI]
|
0.000193464
|
|
|
indolylacroyl glycinuria with mental retardation
|
[NCBI]
|
0.000175345
|
|
|
hydroxyprolinemia
|
[NCBI]
|
0.000175345
|
|
|
beeturia
|
[NCBI]
|
0.000175345
|
|
|
gynecomastia, familial
|
[NCBI]
|
0.000175345
|
|
|
RA
|
[NCBI]
|
0.000171389
|
|
|
WFS1
|
[NCBI]
|
0.000170796
|
|
|
OCRL
|
[NCBI]
|
0.000167786
|
|
|
hyperoxaluria, primary, type i
|
[NCBI]
|
0.000164935
|
|
|
blue diaper syndrome
|
[NCBI]
|
0.000136126
|
|
|
corticosteroid-binding globulin deficiency
|
[NCBI]
|
0.000136126
|
|
|
fertile eunuch syndrome
|
[NCBI]
|
0.000136126
|
|
|
maple syrup urine disease
|
[NCBI]
|
0.000124137
|
|
|
NSIAD
|
[NCBI]
|
0.000121359
|
|
|
myasthenia, limb-girdle, familial
|
[NCBI]
|
0.000121359
|
|
|
cortisone reductase deficiency
|
[NCBI]
|
0.000121359
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
0.000115803
|
|
|
CVG/MR
|
[NCBI]
|
0.000111789
|
|
|
RTADR
|
[NCBI]
|
0.000111789
|
|
|
renal tubular acidosis, distal, autosomal dominant
|
[NCBI]
|
0.000111789
|
|
|
bile acid synthesis defect, congenital, 4
|
[NCBI]
|
0.000104688
|
|
|
cystathioninuria
|
[NCBI]
|
0.000104688
|
|
|
reifenstein syndrome
|
[NCBI]
|
0.000104688
|
|
|
GGM
|
[NCBI]
|
9.90415e-05
|
|
|
TMAU
|
[NCBI]
|
9.90415e-05
|
|
|
NPPA
|
[NCBI]
|
9.6804e-05
|
|
|
orotic aciduria i
|
[NCBI]
|
9.4388e-05
|
|
|
cirrhosis, familial
|
[NCBI]
|
9.43552e-05
|
|
|
hyperprolinemia, type i
|
[NCBI]
|
9.43552e-05
|
|
|
renal tubular acidosis, distal, with progressive nerve deafness
|
[NCBI]
|
9.03517e-05
|
|
|
polycystic kidneys
|
[NCBI]
|
8.71268e-05
|
|
|
hemoglobin--variants for which the chain carrying the mutation is unknown or uncertain
|
[NCBI]
|
8.68588e-05
|
|
|
denys-drash syndrome
|
[NCBI]
|
8.09821e-05
|
|
|
NSHPT
|
[NCBI]
|
8.09821e-05
|
|
|
PHA1
|
[NCBI]
|
8.09821e-05
|
|
|
CF
|
[NCBI]
|
8.01369e-05
|
|
|
PHA2
|
[NCBI]
|
7.84608e-05
|
|
|
bladder cancer
|
[NCBI]
|
7.84608e-05
|
|
|
lipoid congenital adrenal hyperplasia
|
[NCBI]
|
7.84608e-05
|
|
|
BFH
|
[NCBI]
|
7.84608e-05
|
|
|
argininosuccinic aciduria
|
[NCBI]
|
7.6155e-05
|
|
|
FBS
|
[NCBI]
|
7.6155e-05
|
|
|
methionine adenosyltransferase deficiency
|
[NCBI]
|
7.6155e-05
|
|
|
gm1-gangliosidosis, type ii
|
[NCBI]
|
7.6155e-05
|
|
|
diabetes insipidus, neurohypophyseal type
|
[NCBI]
|
7.40313e-05
|
|
|
GCE
|
[NCBI]
|
7.40313e-05
|
|
|
AIS
|
[NCBI]
|
7.21296e-05
|
|
|
alpha-methylacetoacetic aciduria
|
[NCBI]
|
7.20638e-05
|
|
|
crigler-najjar syndrome
|
[NCBI]
|
6.85175e-05
|
|
|
diarrhea 1, secretory chloride, congenital
|
[NCBI]
|
6.85175e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
6.76477e-05
|
|
|
CCAL2
|
[NCBI]
|
6.69079e-05
|
|
|
diabetes insipidus, nephrogenic, x-linked
|
[NCBI]
|
6.5391e-05
|
|
|
FIH
|
[NCBI]
|
6.5391e-05
|
|
|
exostoses, multiple, type i
|
[NCBI]
|
6.25978e-05
|
|
|
mucopolysaccharidosis type vi
|
[NCBI]
|
6.1306e-05
|
|
|
AQP2
|
[NCBI]
|
6.06555e-05
|
|
|
HYPP
|
[NCBI]
|
5.89014e-05
|
|
|
PCTT
|
[NCBI]
|
5.77785e-05
|
|
|
ehlers-danlos syndrome, type i
|
[NCBI]
|
5.77785e-05
|
|
|
porphyria, acute intermittent
|
[NCBI]
|
5.56708e-05
|
|
|
HHC1
|
[NCBI]
|
5.28058e-05
|
|
|
MSD
|
[NCBI]
|
5.19192e-05
|
|
|
AMACR
|
[NCBI]
|
4.83594e-05
|
|
|
CLN3
|
[NCBI]
|
4.71785e-05
|
|
|
AQP3
|
[NCBI]
|
4.60811e-05
|
|
|
protoporphyria, erythropoietic
|
[NCBI]
|
4.41228e-05
|
|
|
VEGF
|
[NCBI]
|
4.27778e-05
|
|
|
danubian endemic familial nephropathy
|
[NCBI]
|
4.26131e-05
|
|
|
porphyria cutanea tarda
|
[NCBI]
|
4.20089e-05
|
|
|
APS1
|
[NCBI]
|
4.14554e-05
|
|
|
LPI
|
[NCBI]
|
4.08974e-05
|
|
|
KCNK5
|
[NCBI]
|
3.88877e-05
|
|
|
LNS
|
[NCBI]
|
3.87912e-05
|
|
|
APRT
|
[NCBI]
|
3.70261e-05
|
|
|
SLC2A2
|
[NCBI]
|
3.58058e-05
|
|
|
LHX6
|
[NCBI]
|
3.51276e-05
|
|
|
KRT20
|
[NCBI]
|
3.41658e-05
|
|
|
KLK3
|
[NCBI]
|
3.29436e-05
|
|
|
SLC14A2
|
[NCBI]
|
3.26886e-05
|
|
|
fructosuria
|
[NCBI]
|
3.26886e-05
|
|
|
CDLS1
|
[NCBI]
|
3.22923e-05
|
|
|
LS
|
[NCBI]
|
3.1921e-05
|
|
|
APOA4
|
[NCBI]
|
3.0877e-05
|
|
|
AQP1
|
[NCBI]
|
3.06915e-05
|
|
|
SPP1
|
[NCBI]
|
3.01531e-05
|
|
|
TAAR1
|
[NCBI]
|
2.94351e-05
|
|
|
AMN
|
[NCBI]
|
2.82373e-05
|
|
|
BBS
|
[NCBI]
|
2.732e-05
|
|
|
ALD
|
[NCBI]
|
2.61676e-05
|
|
|
leber optic atrophy
|
[NCBI]
|
2.56313e-05
|
|
|
TNF
|
[NCBI]
|
2.42195e-05
|
|
|
3-@beta-hydroxysteroid dehydrogenase, type ii, deficiency of
|
[NCBI]
|
2.35715e-05
|
|
|
AOAH
|
[NCBI]
|
2.35715e-05
|
|
|
SLC12A3
|
[NCBI]
|
2.30251e-05
|
|
|
SPAM1
|
[NCBI]
|
2.30251e-05
|
|
|
HLA-B
|
[NCBI]
|
2.30251e-05
|
|
|
CA2
|
[NCBI]
|
2.16038e-05
|
|
|
HSD11B1
|
[NCBI]
|
2.16038e-05
|
|
|
CA1
|
[NCBI]
|
2.1188e-05
|
|
|
CUBN
|
[NCBI]
|
2.1188e-05
|
|
|
isoniazid inactivation
|
[NCBI]
|
2.07958e-05
|
|
|
PTH
|
[NCBI]
|
2.03332e-05
|
|
|
CPM
|
[NCBI]
|
1.91133e-05
|
|
|
coproporphyria
|
[NCBI]
|
1.80137e-05
|
|
|
H6PD
|
[NCBI]
|
1.77645e-05
|
|
|
AVPR2
|
[NCBI]
|
1.75243e-05
|
|
|
PSCA
|
[NCBI]
|
1.75243e-05
|
|
|
FOLH1
|
[NCBI]
|
1.72923e-05
|
|
|
PCI
|
[NCBI]
|
1.34321e-05
|
|
|
HLA-A
|
[NCBI]
|
1.33068e-05
|
|
|
IGFALS
|
[NCBI]
|
1.22793e-05
|
|
|
EGF
|
[NCBI]
|
1.18017e-05
|
|
|
PG
|
[NCBI]
|
1.13074e-05
|
|
|
NGFB
|
[NCBI]
|
9.57487e-06
|
|
|
HPRT1
|
[NCBI]
|
9.5337e-06
|
|
|
RNASE2
|
[NCBI]
|
9.02518e-06
|
|
|
UCN
|
[NCBI]
|
7.87722e-06
|
|
|
PRL
|
[NCBI]
|
7.67869e-06
|
|
|
PTHLH
|
[NCBI]
|
6.38218e-06
|
|
|
TP53
|
[NCBI]
|
6.13992e-06
|
|
|
SLE
|
[NCBI]
|
5.35744e-06
|
|
|
ACE
|
[NCBI]
|
4.97664e-06
|
|
|
OXT
|
[NCBI]
|
4.71583e-06
|
|
|
TLR2
|
[NCBI]
|
4.3533e-06
|
|
|
PCNA
|
[NCBI]
|
4.1693e-06
|
|
|
AKR1B1
|
[NCBI]
|
4.10709e-06
|
|
|
ADM
|
[NCBI]
|
3.87585e-06
|
|
|
MBP
|
[NCBI]
|
3.85084e-06
|
|
|
AR
|
[NCBI]
|
3.70674e-06
|
|
|
ACPP
|
[NCBI]
|
3.50802e-06
|
|
|
RNASE3
|
[NCBI]
|
3.41042e-06
|
|
|
ALB
|
[NCBI]
|
3.32893e-06
|
|
|
TTR
|
[NCBI]
|
2.04151e-06
|
|
|
CAT
|
[NCBI]
|
1.80111e-06
|
|
|
MUC1
|
[NCBI]
|
1.38272e-06
|
|
|
GAL
|
[NCBI]
|
1.36654e-06
|
|
|
MPO
|
[NCBI]
|
8.08895e-07
|
|
|
CJD
|
[NCBI]
|
4.69072e-07
|
|
|
ADCYAP1
|
[NCBI]
|
2.13824e-07
|
|
|
EPO
|
[NCBI]
|
1.97055e-07
|
|
|
TG
|
[NCBI]
|
1.25853e-07
|
|
|
GNRH1
|
[NCBI]
|
3.63448e-08
|
|
|
CEACAM5
|
[NCBI]
|
2.86133e-08
|
|