|
OMIM |
Link |
Information gain |
01 |
|
spinal muscular atrophy, childhood, proximal, autosomal dominant
|
[NCBI]
|
0.00277021
|
|
|
hypertrophia musculorum vera
|
[NCBI]
|
0.00277021
|
|
|
AMCN
|
[NCBI]
|
0.00192174
|
|
|
fructose intolerance, hereditary
|
[NCBI]
|
0.00140255
|
|
|
ALDOA
|
[NCBI]
|
0.000631237
|
|
|
GAPDH
|
[NCBI]
|
0.000196096
|
|
|
ALDOC
|
[NCBI]
|
0.000165109
|
|
|
spinal muscular atrophy, proximal, adult, autosomal dominant
|
[NCBI]
|
0.000138528
|
|
|
native american myopathy
|
[NCBI]
|
0.000130792
|
|
|
DMD
|
[NCBI]
|
0.000126935
|
|
|
mitochondrial myopathy
|
[NCBI]
|
0.000116652
|
|
|
LGMD1A
|
[NCBI]
|
0.000116652
|
|
|
creatine phosphokinase, elevated serum
|
[NCBI]
|
0.000113393
|
|
|
GPI
|
[NCBI]
|
0.000105618
|
|
|
phosphoglycerate kinase 1 deficiency
|
[NCBI]
|
0.000100032
|
|
|
myoclonic epilepsy of lafora
|
[NCBI]
|
9.41467e-05
|
|
|
SMA3
|
[NCBI]
|
9.05629e-05
|
|
|
argininemia
|
[NCBI]
|
8.56263e-05
|
|
|
carnitine palmitoyltransferase ii deficiency, late-onset
|
[NCBI]
|
8.47572e-05
|
|
|
glycogen storage disease iii
|
[NCBI]
|
8.47572e-05
|
|
|
glycogen storage disease v
|
[NCBI]
|
8.01512e-05
|
|
|
BMD
|
[NCBI]
|
7.94681e-05
|
|
|
citrullinemia, classic
|
[NCBI]
|
7.63356e-05
|
|
|
HAE
|
[NCBI]
|
6.89509e-05
|
|
|
MHS1
|
[NCBI]
|
6.85365e-05
|
|
|
SMAX1
|
[NCBI]
|
5.28532e-05
|
|
|
G6PD
|
[NCBI]
|
4.5468e-05
|
|
|
TSD
|
[NCBI]
|
4.20827e-05
|
|
|
DDX1
|
[NCBI]
|
3.37899e-05
|
|
|
temporal arteritis
|
[NCBI]
|
3.11582e-05
|
|
|
ZNF224
|
[NCBI]
|
2.91732e-05
|
|
|
fructosuria
|
[NCBI]
|
2.67468e-05
|
|
|
SNX9
|
[NCBI]
|
2.50874e-05
|
|
|
phosphoglycerate mutase, muscle, deficiency of
|
[NCBI]
|
2.32909e-05
|
|
|
DMD
|
[NCBI]
|
2.31209e-05
|
|
|
SIX1
|
[NCBI]
|
2.28058e-05
|
|
|
SORD
|
[NCBI]
|
2.23615e-05
|
|
|
SLE
|
[NCBI]
|
2.15558e-05
|
|
|
EYA1
|
[NCBI]
|
1.83706e-05
|
|
|
RBP4
|
[NCBI]
|
1.72921e-05
|
|
|
HPX
|
[NCBI]
|
1.71322e-05
|
|
|
AK1
|
[NCBI]
|
1.66802e-05
|
|
|
glycogen storage disease ixa
|
[NCBI]
|
1.65379e-05
|
|
|
TPI1
|
[NCBI]
|
1.60048e-05
|
|
|
RA
|
[NCBI]
|
1.5137e-05
|
|
|
PGK1
|
[NCBI]
|
1.40323e-05
|
|
|
NP
|
[NCBI]
|
1.36192e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
1.35405e-05
|
|
|
ADA
|
[NCBI]
|
1.3056e-05
|
|
|
GPT
|
[NCBI]
|
1.20057e-05
|
|
|
HNF1A
|
[NCBI]
|
1.16194e-05
|
|
|
PABPC1
|
[NCBI]
|
1.16194e-05
|
|
|
ASS
|
[NCBI]
|
1.08821e-05
|
|
|
homocystinuria
|
[NCBI]
|
1.07917e-05
|
|
|
ESD
|
[NCBI]
|
1.03638e-05
|
|
|
PPIA
|
[NCBI]
|
1.01244e-05
|
|
|
TNC
|
[NCBI]
|
9.23981e-06
|
|
|
EGF
|
[NCBI]
|
6.884e-06
|
|
|
PLG
|
[NCBI]
|
6.75438e-06
|
|
|
PRL
|
[NCBI]
|
4.79389e-06
|
|
|
AFP
|
[NCBI]
|
4.59662e-06
|
|
|
HP
|
[NCBI]
|
3.42671e-06
|
|
|
ALB
|
[NCBI]
|
2.77581e-06
|
|
|
GFAP
|
[NCBI]
|
2.57047e-06
|
|
|
VEGF
|
[NCBI]
|
2.55564e-06
|
|
|
TH
|
[NCBI]
|
1.2543e-06
|
|
|
HGF
|
[NCBI]
|
1.22561e-06
|
|
|
CEACAM5
|
[NCBI]
|
7.9489e-11
|
|