|
OMIM |
Link |
Information gain |
01 |
|
methylmalonic aciduria and homocystinuria, cbld type
|
[NCBI]
|
0.00681001
|
|
|
opticocochleodentate degeneration
|
[NCBI]
|
0.00264194
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
0.00164282
|
|
|
d-bifunctional protein deficiency
|
[NCBI]
|
0.000617333
|
|
|
porphyria, congenital erythropoietic
|
[NCBI]
|
0.000598205
|
|
|
methylmalonic aciduria, cbla type
|
[NCBI]
|
0.000538607
|
|
|
DCT
|
[NCBI]
|
0.000469164
|
|
|
methylmalonic aciduria and homocystinuria, cblc type
|
[NCBI]
|
0.000449948
|
|
|
MUT
|
[NCBI]
|
0.000325184
|
|
|
P4HB
|
[NCBI]
|
0.000264994
|
|
|
PDIA3
|
[NCBI]
|
0.000183561
|
|
|
methylmalonyl-coa epimerase deficiency
|
[NCBI]
|
0.000128429
|
|
|
CSCI
|
[NCBI]
|
0.000128429
|
|
|
IDI1
|
[NCBI]
|
0.000114931
|
|
|
peroxisomal acyl-coa oxidase deficiency
|
[NCBI]
|
0.000103316
|
|
|
RHN
|
[NCBI]
|
0.000100472
|
|
|
PTGDS
|
[NCBI]
|
9.08566e-05
|
|
|
phosphoglycerate kinase 1 deficiency
|
[NCBI]
|
8.99809e-05
|
|
|
EHHADH
|
[NCBI]
|
8.45957e-05
|
|
|
RA
|
[NCBI]
|
8.35863e-05
|
|
|
galactose epimerase deficiency
|
[NCBI]
|
8.16698e-05
|
|
|
homocysteinemia
|
[NCBI]
|
6.95032e-05
|
|
|
TPI1
|
[NCBI]
|
6.91775e-05
|
|
|
DJS
|
[NCBI]
|
6.52619e-05
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
6.41872e-05
|
|
|
PTGIS
|
[NCBI]
|
6.41526e-05
|
|
|
PDIA6
|
[NCBI]
|
6.21796e-05
|
|
|
LSS
|
[NCBI]
|
6.21796e-05
|
|
|
MTP
|
[NCBI]
|
5.16517e-05
|
|
|
HSD17B4
|
[NCBI]
|
4.92673e-05
|
|
|
TYRP1
|
[NCBI]
|
4.30005e-05
|
|
|
DCI
|
[NCBI]
|
4.22711e-05
|
|
|
PDIA2
|
[NCBI]
|
4.22711e-05
|
|
|
PECI
|
[NCBI]
|
3.48495e-05
|
|
|
ERP29
|
[NCBI]
|
3.48495e-05
|
|
|
ZNF136
|
[NCBI]
|
3.48495e-05
|
|
|
ichthyosis, x-linked
|
[NCBI]
|
3.35291e-05
|
|
|
RRH
|
[NCBI]
|
3.20496e-05
|
|
|
MCEE
|
[NCBI]
|
3.20496e-05
|
|
|
ZNF133
|
[NCBI]
|
3.20496e-05
|
|
|
ZNF140
|
[NCBI]
|
3.20496e-05
|
|
|
CYP8B1
|
[NCBI]
|
3.20496e-05
|
|
|
PPARA
|
[NCBI]
|
3.10915e-05
|
|
|
P4HA2
|
[NCBI]
|
3.0232e-05
|
|
|
RGR
|
[NCBI]
|
2.88809e-05
|
|
|
prostaglandin d2 synthase, hematopoietic
|
[NCBI]
|
2.78046e-05
|
|
|
C8G
|
[NCBI]
|
2.78046e-05
|
|
|
P4HA1
|
[NCBI]
|
2.691e-05
|
|
|
LCN1
|
[NCBI]
|
2.34163e-05
|
|
|
diphosphoglycerate mutase deficiency of erythrocyte
|
[NCBI]
|
2.3006e-05
|
|
|
MPI
|
[NCBI]
|
2.19369e-05
|
|
|
LRAT
|
[NCBI]
|
2.19369e-05
|
|
|
GALE
|
[NCBI]
|
2.16237e-05
|
|
|
3-@beta-hydroxysteroid dehydrogenase, type ii, deficiency of
|
[NCBI]
|
2.05291e-05
|
|
|
ACOX1
|
[NCBI]
|
1.92228e-05
|
|
|
GPI
|
[NCBI]
|
1.90606e-05
|
|
|
ADK
|
[NCBI]
|
1.83381e-05
|
|
|
transcobalamin ii deficiency
|
[NCBI]
|
1.63357e-05
|
|
|
RHCE
|
[NCBI]
|
1.61188e-05
|
|
|
porphyria cutanea tarda
|
[NCBI]
|
1.48959e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
1.45717e-05
|
|
|
CYP19A1
|
[NCBI]
|
1.44169e-05
|
|
|
LCN2
|
[NCBI]
|
1.39792e-05
|
|
|
TYR
|
[NCBI]
|
1.22763e-05
|
|
|
PAEP
|
[NCBI]
|
1.22268e-05
|
|
|
IDE
|
[NCBI]
|
1.15384e-05
|
|
|
PPIA
|
[NCBI]
|
1.11279e-05
|
|
|
MITF
|
[NCBI]
|
1.11279e-05
|
|
|
TNC
|
[NCBI]
|
1.02325e-05
|
|
|
EGF
|
[NCBI]
|
9.77469e-06
|
|
|
KCNH2
|
[NCBI]
|
8.37067e-06
|
|
|
G6PD
|
[NCBI]
|
6.91425e-06
|
|
|
APOB
|
[NCBI]
|
1.84198e-06
|
|
|
ADA
|
[NCBI]
|
1.06331e-06
|
|
|
KLK3
|
[NCBI]
|
6.05579e-07
|
|
|
CCK
|
[NCBI]
|
3.59591e-07
|
|
|
PCNA
|
[NCBI]
|
3.57227e-07
|
|
|
LPL
|
[NCBI]
|
4.70033e-08
|
|