|
OMIM |
Link |
Information gain |
01 |
|
cerebrohepatorenal syndrome, variant types
|
[NCBI]
|
0.00224712
|
|
|
carnitine palmitoyltransferase ii deficiency, late-onset
|
[NCBI]
|
0.0018488
|
|
|
red cell phospholipid defect with hemolysis
|
[NCBI]
|
0.00175075
|
|
|
carnitine deficiency, myopathic
|
[NCBI]
|
0.00154489
|
|
|
RCDP2
|
[NCBI]
|
0.000835657
|
|
|
RCDP1
|
[NCBI]
|
0.000631414
|
|
|
CGL2
|
[NCBI]
|
0.000615198
|
|
|
lecithin:cholesterol acyltransferase deficiency
|
[NCBI]
|
0.00058767
|
|
|
alpha-methylacetoacetic aciduria
|
[NCBI]
|
0.000524096
|
|
|
CGL1
|
[NCBI]
|
0.00051268
|
|
|
refsum disease, infantile form
|
[NCBI]
|
0.000470917
|
|
|
GNPAT
|
[NCBI]
|
0.00046174
|
|
|
HSAN1
|
[NCBI]
|
0.000446466
|
|
|
LRAT
|
[NCBI]
|
0.000443622
|
|
|
DBT
|
[NCBI]
|
0.000418578
|
|
|
ZS
|
[NCBI]
|
0.000303046
|
|
|
SPTLC1
|
[NCBI]
|
0.000286269
|
|
|
LCAT
|
[NCBI]
|
0.000256637
|
|
|
AGPAT2
|
[NCBI]
|
0.000227166
|
|
|
adrenoleukodystrophy, autosomal neonatal form
|
[NCBI]
|
0.000202652
|
|
|
DGAT1
|
[NCBI]
|
0.000182652
|
|
|
SCZD
|
[NCBI]
|
0.000182022
|
|
|
RBP1
|
[NCBI]
|
0.000181523
|
|
|
carnitine palmitoyltransferase i deficiency
|
[NCBI]
|
0.000180739
|
|
|
maple syrup urine disease
|
[NCBI]
|
0.000171192
|
|
|
d-bifunctional protein deficiency
|
[NCBI]
|
0.000154151
|
|
|
PIGT
|
[NCBI]
|
0.00015135
|
|
|
PBD
|
[NCBI]
|
0.000137633
|
|
|
TGD
|
[NCBI]
|
0.000129772
|
|
|
BTHS
|
[NCBI]
|
0.000121896
|
|
|
GART
|
[NCBI]
|
0.000118265
|
|
|
AGPAT1
|
[NCBI]
|
0.000113478
|
|
|
DLST
|
[NCBI]
|
0.000101437
|
|
|
SPTLC2
|
[NCBI]
|
0.000101437
|
|
|
BAAT
|
[NCBI]
|
0.000101437
|
|
|
ZDHHC8
|
[NCBI]
|
0.000101437
|
|
|
FHCA
|
[NCBI]
|
9.83633e-05
|
|
|
SH3GLB1
|
[NCBI]
|
9.54673e-05
|
|
|
NAIC
|
[NCBI]
|
9.26374e-05
|
|
|
CMT2B
|
[NCBI]
|
8.8081e-05
|
|
|
RCDP3
|
[NCBI]
|
8.8081e-05
|
|
|
gamma-glutamylcysteine synthetase deficiency, hemolytic anemia due to
|
[NCBI]
|
8.42972e-05
|
|
|
hyperpipecolatemia
|
[NCBI]
|
8.10627e-05
|
|
|
congenital hemidysplasia with ichthyosiform erythroderma and limb defects
|
[NCBI]
|
8.10627e-05
|
|
|
creatine phosphokinase, elevated serum
|
[NCBI]
|
8.10627e-05
|
|
|
hypoalphalipoproteinemia, primary
|
[NCBI]
|
7.82387e-05
|
|
|
sea-blue histiocyte disease
|
[NCBI]
|
7.82387e-05
|
|
|
GLYAT
|
[NCBI]
|
7.56287e-05
|
|
|
NMT1
|
[NCBI]
|
7.56287e-05
|
|
|
ZDHHC9
|
[NCBI]
|
7.56287e-05
|
|
|
MOGAT1
|
[NCBI]
|
7.56287e-05
|
|
|
NMT2
|
[NCBI]
|
7.56287e-05
|
|
|
CPT1A
|
[NCBI]
|
7.33382e-05
|
|
|
MTHFD1
|
[NCBI]
|
7.21903e-05
|
|
|
cardiofaciocutaneous syndrome
|
[NCBI]
|
7.14405e-05
|
|
|
succinyl-coa:3-oxoacid coa transferase deficiency
|
[NCBI]
|
7.14405e-05
|
|
|
ZDHHC17
|
[NCBI]
|
6.54078e-05
|
|
|
MOGAT2
|
[NCBI]
|
6.54078e-05
|
|
|
PIGK
|
[NCBI]
|
6.54078e-05
|
|
|
glutathione synthetase deficiency
|
[NCBI]
|
6.47635e-05
|
|
|
costello syndrome
|
[NCBI]
|
6.33703e-05
|
|
|
ATIC
|
[NCBI]
|
6.07908e-05
|
|
|
GPAA1
|
[NCBI]
|
6.07908e-05
|
|
|
GSTP1
|
[NCBI]
|
6.02955e-05
|
|
|
CF
|
[NCBI]
|
5.88189e-05
|
|
|
SH3GL2
|
[NCBI]
|
5.76227e-05
|
|
|
LYPLA3
|
[NCBI]
|
5.5196e-05
|
|
|
FED
|
[NCBI]
|
5.46165e-05
|
|
|
FPLD2
|
[NCBI]
|
5.28922e-05
|
|
|
gm1-gangliosidosis, type i
|
[NCBI]
|
5.20801e-05
|
|
|
PEX6
|
[NCBI]
|
5.01318e-05
|
|
|
PXMP3
|
[NCBI]
|
4.5792e-05
|
|
|
APOB
|
[NCBI]
|
4.54627e-05
|
|
|
NS1
|
[NCBI]
|
4.42124e-05
|
|
|
BTD
|
[NCBI]
|
4.34114e-05
|
|
|
TYMS
|
[NCBI]
|
4.16042e-05
|
|
|
biotinidase deficiency
|
[NCBI]
|
4.11823e-05
|
|
|
FPGS
|
[NCBI]
|
3.96948e-05
|
|
|
LPGAT1
|
[NCBI]
|
3.78028e-05
|
|
|
LIPT1
|
[NCBI]
|
3.78028e-05
|
|
|
SPTLC3
|
[NCBI]
|
3.78028e-05
|
|
|
lysophosphatidic acid acyltransferase-zeta
|
[NCBI]
|
3.78028e-05
|
|
|
HRASLS5
|
[NCBI]
|
3.78028e-05
|
|
|
PIGS
|
[NCBI]
|
3.78028e-05
|
|
|
DGAT2
|
[NCBI]
|
3.78028e-05
|
|
|
PIGW
|
[NCBI]
|
3.78028e-05
|
|
|
CDC91L1
|
[NCBI]
|
3.78028e-05
|
|
|
MOGAT3
|
[NCBI]
|
3.78028e-05
|
|
|
porphyria, acute intermittent
|
[NCBI]
|
3.58722e-05
|
|
|
NPC1
|
[NCBI]
|
3.44933e-05
|
|
|
danubian endemic familial nephropathy
|
[NCBI]
|
3.28999e-05
|
|
|
VEGF
|
[NCBI]
|
3.18184e-05
|
|
|
GOLGA7
|
[NCBI]
|
3.03838e-05
|
|
|
ARV1
|
[NCBI]
|
3.03838e-05
|
|
|
GLY B+
|
[NCBI]
|
3.03838e-05
|
|
|
HHAT
|
[NCBI]
|
3.03838e-05
|
|
|
PAICS
|
[NCBI]
|
2.75865e-05
|
|
|
PNPLA4
|
[NCBI]
|
2.75865e-05
|
|
|
ACAA1
|
[NCBI]
|
2.75865e-05
|
|
|
MYL6
|
[NCBI]
|
2.75865e-05
|
|
|
ADPN
|
[NCBI]
|
2.75865e-05
|
|
|
OSBPL8
|
[NCBI]
|
2.57715e-05
|
|
|
STRA6
|
[NCBI]
|
2.57715e-05
|
|
|
TJP2
|
[NCBI]
|
2.4423e-05
|
|
|
MTHFD2
|
[NCBI]
|
2.4423e-05
|
|
|
OCLN
|
[NCBI]
|
2.4423e-05
|
|
|
ABCD3
|
[NCBI]
|
2.4423e-05
|
|
|
AGPS
|
[NCBI]
|
2.4423e-05
|
|
|
SOAT2
|
[NCBI]
|
2.33494e-05
|
|
|
SCD
|
[NCBI]
|
2.29749e-05
|
|
|
AYTL2
|
[NCBI]
|
2.24573e-05
|
|
|
SYNJ1
|
[NCBI]
|
2.24573e-05
|
|
|
PLB1
|
[NCBI]
|
2.24573e-05
|
|
|
IL10RB
|
[NCBI]
|
2.16943e-05
|
|
|
RARRES1
|
[NCBI]
|
2.10278e-05
|
|
|
CRAT
|
[NCBI]
|
2.10278e-05
|
|
|
BCKDHB
|
[NCBI]
|
2.10278e-05
|
|
|
RAB7
|
[NCBI]
|
2.04361e-05
|
|
|
BSCL2
|
[NCBI]
|
2.04361e-05
|
|
|
GSS
|
[NCBI]
|
1.94214e-05
|
|
|
MEF2C
|
[NCBI]
|
1.89793e-05
|
|
|
AOAH
|
[NCBI]
|
1.89793e-05
|
|
|
CTBP1
|
[NCBI]
|
1.89793e-05
|
|
|
BID
|
[NCBI]
|
1.81933e-05
|
|
|
ACAT1
|
[NCBI]
|
1.81933e-05
|
|
|
SOAT1
|
[NCBI]
|
1.81933e-05
|
|
|
PNPLA2
|
[NCBI]
|
1.75103e-05
|
|
|
DHFR
|
[NCBI]
|
1.73328e-05
|
|
|
TNF
|
[NCBI]
|
1.70773e-05
|
|
|
NCOA1
|
[NCBI]
|
1.69067e-05
|
|
|
EBP
|
[NCBI]
|
1.66293e-05
|
|
|
HSD17B4
|
[NCBI]
|
1.6366e-05
|
|
|
PEX7
|
[NCBI]
|
1.58767e-05
|
|
|
PRL
|
[NCBI]
|
1.56412e-05
|
|
|
CPT2
|
[NCBI]
|
1.54298e-05
|
|
|
CARM1
|
[NCBI]
|
1.54298e-05
|
|
|
RPE65
|
[NCBI]
|
1.50187e-05
|
|
|
NPC1
|
[NCBI]
|
1.44581e-05
|
|
|
PPT1
|
[NCBI]
|
1.26855e-05
|
|
|
PEMT
|
[NCBI]
|
1.23255e-05
|
|
|
ACADS
|
[NCBI]
|
1.22111e-05
|
|
|
EGF
|
[NCBI]
|
1.18452e-05
|
|
|
CTSC
|
[NCBI]
|
1.17782e-05
|
|
|
isoniazid inactivation
|
[NCBI]
|
1.14769e-05
|
|
|
ARF1
|
[NCBI]
|
1.11021e-05
|
|
|
RASA1
|
[NCBI]
|
1.10218e-05
|
|
|
APOD
|
[NCBI]
|
9.63697e-06
|
|
|
B2M
|
[NCBI]
|
9.3789e-06
|
|
|
CEACAM5
|
[NCBI]
|
7.77306e-06
|
|
|
ALD
|
[NCBI]
|
7.18902e-06
|
|
|
TLR4
|
[NCBI]
|
6.44344e-06
|
|
|
PCNA
|
[NCBI]
|
5.74106e-06
|
|
|
PSEN1
|
[NCBI]
|
5.73826e-06
|
|
|
DBI
|
[NCBI]
|
5.6581e-06
|
|
|
DCK
|
[NCBI]
|
4.44792e-06
|
|
|
SHH
|
[NCBI]
|
3.25176e-06
|
|
|
EGFR
|
[NCBI]
|
3.18851e-06
|
|
|
HD
|
[NCBI]
|
1.66903e-06
|
|
|
HP
|
[NCBI]
|
1.20334e-06
|
|
|
TG
|
[NCBI]
|
1.17873e-06
|
|
|
APOE
|
[NCBI]
|
7.20047e-07
|
|
|
ACHE
|
[NCBI]
|
5.25514e-07
|
|
|
FRAP1
|
[NCBI]
|
4.39004e-07
|
|
|
GAPDH
|
[NCBI]
|
1.54145e-07
|
|
|
CHAT
|
[NCBI]
|
1.31141e-08
|
|
|
LPL
|
[NCBI]
|
7.16517e-11
|
|