|
OMIM |
Link |
Information gain |
01 |
|
VRNI
|
[NCBI]
|
0.000542057
|
|
|
homocystinuria due to deficiency of n(5,10)-methylenetetrahydrofolate reductase activity
|
[NCBI]
|
0.000478726
|
|
|
DHFR
|
[NCBI]
|
0.000232793
|
|
|
neural tube defects, folate-sensitive
|
[NCBI]
|
0.000184829
|
|
|
acyl-coa dehydrogenase, medium-chain, deficiency of
|
[NCBI]
|
0.000170337
|
|
|
MTHFR
|
[NCBI]
|
0.000130448
|
|
|
metachromatic leukodystrophy
|
[NCBI]
|
0.000129684
|
|
|
2-@methylbutyryl-coa dehydrogenase deficiency
|
[NCBI]
|
0.00010869
|
|
|
mevalonic aciduria
|
[NCBI]
|
0.00010869
|
|
|
methemoglobinemia due to deficiency of methemoglobin reductase
|
[NCBI]
|
9.9684e-05
|
|
|
DAO
|
[NCBI]
|
9.72603e-05
|
|
|
ACHE
|
[NCBI]
|
9.54689e-05
|
|
|
lymphedema, hereditary, i
|
[NCBI]
|
8.86802e-05
|
|
|
IVD
|
[NCBI]
|
8.7265e-05
|
|
|
phosphoglycerate kinase 1 deficiency
|
[NCBI]
|
8.66826e-05
|
|
|
carnitine palmitoyltransferase ii deficiency, late-onset
|
[NCBI]
|
8.48679e-05
|
|
|
galactose epimerase deficiency
|
[NCBI]
|
8.32056e-05
|
|
|
gm1-gangliosidosis, type iii
|
[NCBI]
|
8.16721e-05
|
|
|
propionic acidemia
|
[NCBI]
|
8.0249e-05
|
|
|
IVA
|
[NCBI]
|
7.89216e-05
|
|
|
hurler-scheie syndrome
|
[NCBI]
|
7.89216e-05
|
|
|
HNMT
|
[NCBI]
|
7.86026e-05
|
|
|
mucopolysaccharidosis type iiia
|
[NCBI]
|
7.76778e-05
|
|
|
G6PD
|
[NCBI]
|
7.68701e-05
|
|
|
HIDS
|
[NCBI]
|
7.54034e-05
|
|
|
MADD
|
[NCBI]
|
7.15176e-05
|
|
|
mucopolysaccharidosis type vii
|
[NCBI]
|
6.82757e-05
|
|
|
homocysteinemia
|
[NCBI]
|
6.61544e-05
|
|
|
GAPDH
|
[NCBI]
|
6.34284e-05
|
|
|
ACADM
|
[NCBI]
|
6.32395e-05
|
|
|
sandhoff disease
|
[NCBI]
|
6.30633e-05
|
|
|
neuraminidase deficiency
|
[NCBI]
|
6.19525e-05
|
|
|
VEGF
|
[NCBI]
|
5.76601e-05
|
|
|
CPE
|
[NCBI]
|
5.73935e-05
|
|
|
galactosemia
|
[NCBI]
|
5.67759e-05
|
|
|
gaucher disease, type i
|
[NCBI]
|
5.17293e-05
|
|
|
UNG
|
[NCBI]
|
4.83466e-05
|
|
|
BLM
|
[NCBI]
|
4.69958e-05
|
|
|
ASL
|
[NCBI]
|
4.62099e-05
|
|
|
GPI
|
[NCBI]
|
4.57333e-05
|
|
|
BCHE
|
[NCBI]
|
4.53808e-05
|
|
|
H6PD
|
[NCBI]
|
4.30801e-05
|
|
|
TYMS
|
[NCBI]
|
4.27861e-05
|
|
|
IDUA
|
[NCBI]
|
4.12784e-05
|
|
|
SOD2
|
[NCBI]
|
4.03703e-05
|
|
|
PTPN20A
|
[NCBI]
|
3.90427e-05
|
|
|
GLYAT
|
[NCBI]
|
3.90427e-05
|
|
|
CPB2
|
[NCBI]
|
3.63412e-05
|
|
|
PRSS1
|
[NCBI]
|
3.46216e-05
|
|
|
GSTP1
|
[NCBI]
|
3.42264e-05
|
|
|
SOD1
|
[NCBI]
|
3.39981e-05
|
|
|
ADA
|
[NCBI]
|
3.39024e-05
|
|
|
PJS
|
[NCBI]
|
3.33061e-05
|
|
|
ornithine aminotransferase deficiency
|
[NCBI]
|
3.14799e-05
|
|
|
POLR2E
|
[NCBI]
|
3.08035e-05
|
|
|
PLCD3
|
[NCBI]
|
3.08035e-05
|
|
|
TSD
|
[NCBI]
|
3.06527e-05
|
|
|
GNMT
|
[NCBI]
|
3.06006e-05
|
|
|
HEXB
|
[NCBI]
|
2.97853e-05
|
|
|
LCAT
|
[NCBI]
|
2.97544e-05
|
|
|
porphyria cutanea tarda
|
[NCBI]
|
2.90255e-05
|
|
|
MODY
|
[NCBI]
|
2.80242e-05
|
|
|
MCM10
|
[NCBI]
|
2.76989e-05
|
|
|
PIGQ
|
[NCBI]
|
2.76989e-05
|
|
|
ACAD8
|
[NCBI]
|
2.76989e-05
|
|
|
ETFDH
|
[NCBI]
|
2.76989e-05
|
|
|
NAT1
|
[NCBI]
|
2.66151e-05
|
|
|
CEL
|
[NCBI]
|
2.642e-05
|
|
|
LPL
|
[NCBI]
|
2.57024e-05
|
|
|
POLR2I
|
[NCBI]
|
2.56857e-05
|
|
|
UPB1
|
[NCBI]
|
2.56857e-05
|
|
|
CDC37
|
[NCBI]
|
2.56857e-05
|
|
|
ETFB
|
[NCBI]
|
2.56857e-05
|
|
|
GLRX2
|
[NCBI]
|
2.56857e-05
|
|
|
POLR2F
|
[NCBI]
|
2.56857e-05
|
|
|
cortisol 11-beta-ketoreductase deficiency
|
[NCBI]
|
2.56729e-05
|
|
|
EGF
|
[NCBI]
|
2.52346e-05
|
|
|
MTHFD2
|
[NCBI]
|
2.41908e-05
|
|
|
ETFA
|
[NCBI]
|
2.41908e-05
|
|
|
ACADSB
|
[NCBI]
|
2.41908e-05
|
|
|
TPSB2
|
[NCBI]
|
2.30013e-05
|
|
|
KMO
|
[NCBI]
|
2.30013e-05
|
|
|
PCSK7
|
[NCBI]
|
2.30013e-05
|
|
|
DDO
|
[NCBI]
|
2.30013e-05
|
|
|
DPP7
|
[NCBI]
|
2.20135e-05
|
|
|
PTH
|
[NCBI]
|
2.19924e-05
|
|
|
PCBD1
|
[NCBI]
|
2.1169e-05
|
|
|
NT5C3
|
[NCBI]
|
2.1169e-05
|
|
|
TPSAB1
|
[NCBI]
|
2.1169e-05
|
|
|
VRK1
|
[NCBI]
|
2.1169e-05
|
|
|
CHIT1
|
[NCBI]
|
2.1169e-05
|
|
|
GCK
|
[NCBI]
|
2.10533e-05
|
|
|
PDE4A
|
[NCBI]
|
2.04318e-05
|
|
|
ARD1A
|
[NCBI]
|
2.04318e-05
|
|
|
TYR
|
[NCBI]
|
2.00516e-05
|
|
|
HAL
|
[NCBI]
|
1.97778e-05
|
|
|
EPHX2
|
[NCBI]
|
1.97778e-05
|
|
|
SULT1A3
|
[NCBI]
|
1.97778e-05
|
|
|
MAPK6
|
[NCBI]
|
1.97778e-05
|
|
|
APH
|
[NCBI]
|
1.91903e-05
|
|
|
ERAF
|
[NCBI]
|
1.86571e-05
|
|
|
ACP5
|
[NCBI]
|
1.83142e-05
|
|
|
LPO
|
[NCBI]
|
1.83029e-05
|
|
|
RNF7
|
[NCBI]
|
1.81691e-05
|
|
|
SULT1A1
|
[NCBI]
|
1.81691e-05
|
|
|
ATP5O
|
[NCBI]
|
1.81691e-05
|
|
|
ACAT1
|
[NCBI]
|
1.77194e-05
|
|
|
CDK5R1
|
[NCBI]
|
1.77194e-05
|
|
|
NCF2
|
[NCBI]
|
1.77194e-05
|
|
|
HTATIP
|
[NCBI]
|
1.73025e-05
|
|
|
PNPLA6
|
[NCBI]
|
1.7207e-05
|
|
|
LDHC
|
[NCBI]
|
1.69139e-05
|
|
|
GALE
|
[NCBI]
|
1.69139e-05
|
|
|
SGSH
|
[NCBI]
|
1.69139e-05
|
|
|
PANK2
|
[NCBI]
|
1.65503e-05
|
|
|
COMT
|
[NCBI]
|
1.59089e-05
|
|
|
ADSL
|
[NCBI]
|
1.58862e-05
|
|
|
PTS
|
[NCBI]
|
1.58862e-05
|
|
|
ACY1
|
[NCBI]
|
1.58862e-05
|
|
|
MAPK8IP1
|
[NCBI]
|
1.58862e-05
|
|
|
FLT4
|
[NCBI]
|
1.55813e-05
|
|
|
PCCB
|
[NCBI]
|
1.55813e-05
|
|
|
AOF2
|
[NCBI]
|
1.55813e-05
|
|
|
RPS6KA1
|
[NCBI]
|
1.55813e-05
|
|
|
ACACA
|
[NCBI]
|
1.55813e-05
|
|
|
G6PT1
|
[NCBI]
|
1.55813e-05
|
|
|
KLK3
|
[NCBI]
|
1.55743e-05
|
|
|
PLK1
|
[NCBI]
|
1.53948e-05
|
|
|
NNMT
|
[NCBI]
|
1.52921e-05
|
|
|
NEU1
|
[NCBI]
|
1.52921e-05
|
|
|
CTSD
|
[NCBI]
|
1.50171e-05
|
|
|
CPT2
|
[NCBI]
|
1.50171e-05
|
|
|
HSPCA
|
[NCBI]
|
1.50171e-05
|
|
|
ADAMTS13
|
[NCBI]
|
1.4755e-05
|
|
|
CF
|
[NCBI]
|
1.4517e-05
|
|
|
CPD
|
[NCBI]
|
1.45046e-05
|
|
|
APTX
|
[NCBI]
|
1.45046e-05
|
|
|
PINK1
|
[NCBI]
|
1.42651e-05
|
|
|
GSK3B
|
[NCBI]
|
1.40354e-05
|
|
|
CDK4
|
[NCBI]
|
1.3821e-05
|
|
|
ELA2
|
[NCBI]
|
1.38149e-05
|
|
|
MVK
|
[NCBI]
|
1.36029e-05
|
|
|
CES1
|
[NCBI]
|
1.33988e-05
|
|
|
POLR2A
|
[NCBI]
|
1.33988e-05
|
|
|
PRODH
|
[NCBI]
|
1.28285e-05
|
|
|
QTRT1
|
[NCBI]
|
1.21508e-05
|
|
|
PEPD
|
[NCBI]
|
1.21508e-05
|
|
|
FMO3
|
[NCBI]
|
1.21508e-05
|
|
|
MTCO2
|
[NCBI]
|
1.19939e-05
|
|
|
aspartylglucosaminuria
|
[NCBI]
|
1.19939e-05
|
|
|
TYRP1
|
[NCBI]
|
1.19939e-05
|
|
|
PHEX
|
[NCBI]
|
1.18415e-05
|
|
|
GK
|
[NCBI]
|
1.16933e-05
|
|
|
MTCO1
|
[NCBI]
|
1.16933e-05
|
|
|
TPI1
|
[NCBI]
|
1.15492e-05
|
|
|
CDA
|
[NCBI]
|
1.11388e-05
|
|
|
GLA
|
[NCBI]
|
1.0882e-05
|
|
|
DCT
|
[NCBI]
|
1.04035e-05
|
|
|
CTSC
|
[NCBI]
|
1.04035e-05
|
|
|
CDK5
|
[NCBI]
|
1.03076e-05
|
|
|
HDC
|
[NCBI]
|
1.00194e-05
|
|
|
FH
|
[NCBI]
|
9.86174e-06
|
|
|
CYP2D6
|
[NCBI]
|
9.86174e-06
|
|
|
GALT
|
[NCBI]
|
9.75996e-06
|
|
|
OTC
|
[NCBI]
|
9.56233e-06
|
|
|
LCN2
|
[NCBI]
|
8.84166e-06
|
|
|
protein c deficiency, congenital thrombotic disease due to
|
[NCBI]
|
8.43945e-06
|
|
|
ANG
|
[NCBI]
|
8.28746e-06
|
|
|
ARSA
|
[NCBI]
|
7.92731e-06
|
|
|
PD
|
[NCBI]
|
7.76524e-06
|
|
|
BTK
|
[NCBI]
|
6.98806e-06
|
|
|
homocystinuria
|
[NCBI]
|
6.71353e-06
|
|
|
SCD
|
[NCBI]
|
6.30689e-06
|
|
|
GUSB
|
[NCBI]
|
6.1637e-06
|
|
|
PG
|
[NCBI]
|
6.07083e-06
|
|
|
PC
|
[NCBI]
|
5.93522e-06
|
|
|
MAPK1
|
[NCBI]
|
5.89097e-06
|
|
|
ABCC1
|
[NCBI]
|
5.68635e-06
|
|
|
TPMT
|
[NCBI]
|
5.47262e-06
|
|
|
ACE
|
[NCBI]
|
5.1045e-06
|
|
|
TBP
|
[NCBI]
|
4.74767e-06
|
|
|
HMBS
|
[NCBI]
|
4.49213e-06
|
|
|
CAT
|
[NCBI]
|
4.28351e-06
|
|
|
ABP1
|
[NCBI]
|
4.00224e-06
|
|
|
CHAT
|
[NCBI]
|
3.34206e-06
|
|
|
DCK
|
[NCBI]
|
3.11166e-06
|
|
|
FAAH
|
[NCBI]
|
3.01134e-06
|
|
|
phenylketonuria
|
[NCBI]
|
2.67668e-06
|
|
|
PLG
|
[NCBI]
|
2.6075e-06
|
|
|
F3
|
[NCBI]
|
2.55976e-06
|
|
|
TH
|
[NCBI]
|
2.41843e-06
|
|
|
APRT
|
[NCBI]
|
2.31698e-06
|
|
|
AKR1B1
|
[NCBI]
|
2.31698e-06
|
|
|
XDH
|
[NCBI]
|
2.26067e-06
|
|
|
ACPP
|
[NCBI]
|
2.22715e-06
|
|
|
IAPP
|
[NCBI]
|
1.98969e-06
|
|
|
PI
|
[NCBI]
|
1.76314e-06
|
|
|
PTK2
|
[NCBI]
|
1.22263e-06
|
|
|
TPO
|
[NCBI]
|
1.08322e-06
|
|
|
PCNA
|
[NCBI]
|
7.53194e-07
|
|
|
GDNF
|
[NCBI]
|
3.26397e-07
|
|
|
CRC
|
[NCBI]
|
2.58179e-07
|
|
|
CYP1A1
|
[NCBI]
|
2.48997e-07
|
|
|
AHR
|
[NCBI]
|
2.0757e-07
|
|
|
TLR4
|
[NCBI]
|
1.80795e-07
|
|
|
MPO
|
[NCBI]
|
1.11896e-07
|
|
|
RNASE3
|
[NCBI]
|
1.54252e-08
|
|
|
FRAP1
|
[NCBI]
|
2.59006e-09
|
|