|
OMIM |
Link |
Information gain |
01 |
|
tricarboxylic acid cycle, defect of
|
[NCBI]
|
0.003491
|
|
|
d-bifunctional protein deficiency
|
[NCBI]
|
0.00123079
|
|
|
3-@methylglutaconic aciduria, type i
|
[NCBI]
|
0.000964613
|
|
|
HSD17B4
|
[NCBI]
|
0.000578946
|
|
|
homocystinuria
|
[NCBI]
|
0.000546095
|
|
|
MLASA
|
[NCBI]
|
0.000427853
|
|
|
hyperphenylalaninemia with primapterinuria
|
[NCBI]
|
0.000395628
|
|
|
PCBD1
|
[NCBI]
|
0.000342909
|
|
|
urocanase deficiency
|
[NCBI]
|
0.00033576
|
|
|
3-@methylglutaconic aciduria, type iv
|
[NCBI]
|
0.00033576
|
|
|
3-@methylglutaconic aciduria, type iii
|
[NCBI]
|
0.000248787
|
|
|
porphyria, congenital erythropoietic
|
[NCBI]
|
0.000183315
|
|
|
homocysteinemia
|
[NCBI]
|
0.000162874
|
|
|
BTHS
|
[NCBI]
|
0.000157714
|
|
|
PUS1
|
[NCBI]
|
0.000157582
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
0.000152006
|
|
|
AUH
|
[NCBI]
|
0.000141292
|
|
|
HNF1A
|
[NCBI]
|
0.000136451
|
|
|
FH
|
[NCBI]
|
0.000124237
|
|
|
DKC1
|
[NCBI]
|
0.000118643
|
|
|
IRID1
|
[NCBI]
|
0.00011638
|
|
|
methylmalonic aciduria, cbla type
|
[NCBI]
|
9.36447e-05
|
|
|
ACO1
|
[NCBI]
|
8.79737e-05
|
|
|
sulfocysteinuria
|
[NCBI]
|
8.74295e-05
|
|
|
phosphoglycerate kinase 1 deficiency
|
[NCBI]
|
8.56892e-05
|
|
|
pearson marrow-pancreas syndrome
|
[NCBI]
|
8.56892e-05
|
|
|
cystathioninuria
|
[NCBI]
|
8.56892e-05
|
|
|
PCBD2
|
[NCBI]
|
8.53729e-05
|
|
|
CDG2C
|
[NCBI]
|
8.25686e-05
|
|
|
methionine adenosyltransferase deficiency
|
[NCBI]
|
7.9831e-05
|
|
|
DKC
|
[NCBI]
|
7.85787e-05
|
|
|
GMDS
|
[NCBI]
|
7.51493e-05
|
|
|
ALD
|
[NCBI]
|
6.85927e-05
|
|
|
methylmalonic aciduria due to methylmalonyl-coa mutase deficiency
|
[NCBI]
|
6.73568e-05
|
|
|
UROS
|
[NCBI]
|
4.80952e-05
|
|
|
AK1
|
[NCBI]
|
4.37729e-05
|
|
|
MAP4K5
|
[NCBI]
|
4.26577e-05
|
|
|
UGP1
|
[NCBI]
|
4.26577e-05
|
|
|
ZS
|
[NCBI]
|
4.18391e-05
|
|
|
ALAD
|
[NCBI]
|
3.92679e-05
|
|
|
HPS
|
[NCBI]
|
3.58329e-05
|
|
|
DNMAP1
|
[NCBI]
|
3.5236e-05
|
|
|
ACAA1
|
[NCBI]
|
3.24359e-05
|
|
|
PAM
|
[NCBI]
|
3.0192e-05
|
|
|
DYRK1B
|
[NCBI]
|
2.9267e-05
|
|
|
TSTA3
|
[NCBI]
|
2.9267e-05
|
|
|
AK3
|
[NCBI]
|
2.72957e-05
|
|
|
ACO2
|
[NCBI]
|
2.47318e-05
|
|
|
PLA2G4A
|
[NCBI]
|
2.42461e-05
|
|
|
MAT1A
|
[NCBI]
|
2.23213e-05
|
|
|
FOXC1
|
[NCBI]
|
2.14321e-05
|
|
|
HADHA
|
[NCBI]
|
2.11661e-05
|
|
|
PTS
|
[NCBI]
|
1.98022e-05
|
|
|
HDAC2
|
[NCBI]
|
1.90567e-05
|
|
|
TPI1
|
[NCBI]
|
1.74278e-05
|
|
|
SIRT1
|
[NCBI]
|
1.73022e-05
|
|
|
LIF
|
[NCBI]
|
1.71795e-05
|
|
|
AMACR
|
[NCBI]
|
1.66061e-05
|
|
|
tyrosinemia, type i
|
[NCBI]
|
1.49491e-05
|
|
|
DNMT1
|
[NCBI]
|
9.67576e-06
|
|
|
MAP2
|
[NCBI]
|
7.24197e-06
|
|
|
CYP1A1
|
[NCBI]
|
4.18916e-06
|
|
|
NGFB
|
[NCBI]
|
2.27191e-06
|
|
|
ACHE
|
[NCBI]
|
6.08352e-07
|
|
|
TH
|
[NCBI]
|
5.99569e-07
|
|
|
CHAT
|
[NCBI]
|
1.67803e-07
|
|
|
MBP
|
[NCBI]
|
3.57784e-08
|
|