Source: ALL
Gene UniProt Gene Full Name Protein Class N. diseases g DSI g DPI g pLI Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 686
Gene Symbol: BTD
BTD
P43251 biotinidase Enzyme 90 0.628 0.654 1.5E-07 0.100 None 0 0
Entrez Id: 6927
Gene Symbol: HNF1A
HNF1A
P20823 HNF1 homeobox A Nucleic acid binding 292 0.478 0.846 0.96 0.100 None 0 0
Entrez Id: 6948
Gene Symbol: TCN2
TCN2
P20062 transcobalamin 2 104 0.578 0.615 1.0E-06 0.100 None 0 0
Entrez Id: 593
Gene Symbol: BCKDHA
BCKDHA
P12694 branched chain keto acid dehydrogenase E1 subunit alpha 45 0.695 0.423 9.8E-09 0.100 None 0 0
Entrez Id: 4700
Gene Symbol: NDUFA6
NDUFA6
P56556 NADH:ubiquinone oxidoreductase subunit A6 Enzyme 57 0.711 0.346 1.3E-04 0.100 None 0 0
Entrez Id: 10560
Gene Symbol: SLC19A2
SLC19A2
O60779 solute carrier family 19 member 2 Transporter 70 0.636 0.692 4.3E-04 0.100 None 0 0
Entrez Id: 2203
Gene Symbol: FBP1
FBP1
P09467 fructose-bisphosphatase 1 Enzyme 125 0.575 0.692 7.9E-02 0.100 None 0 0
Entrez Id: 229
Gene Symbol: ALDOB
ALDOB
P05062 aldolase, fructose-bisphosphate B 80 0.623 0.538 7.9E-07 0.100 None 0 0
Entrez Id: 23400
Gene Symbol: ATP13A2
ATP13A2
Q9NQ11 ATPase cation transporting 13A2 160 0.566 0.577 9.0E-09 0.100 None 0 0
Entrez Id: 2561
Gene Symbol: GABRB2
GABRB2
P47870 gamma-aminobutyric acid type A receptor subunit beta2 Ion channel 89 0.619 0.500 0.85 0.100 None 0 0
Entrez Id: 25915
Gene Symbol: NDUFAF3
NDUFAF3
Q9BU61 NADH:ubiquinone oxidoreductase complex assembly factor 3 101 0.650 0.577 5.3E-03 0.100 None 0 0
Entrez Id: 2592
Gene Symbol: GALT
GALT
P07902 galactose-1-phosphate uridylyltransferase Enzyme 87 0.612 0.654 2.1E-06 0.100 None 0 0
Entrez Id: 25974
Gene Symbol: MMACHC
MMACHC
Q9Y4U1 metabolism of cobalamin associated C 76 0.644 0.615 1.1E-13 0.100 None 0 0
Entrez Id: 2643
Gene Symbol: GCH1
GCH1
P30793 GTP cyclohydrolase 1 Enzyme 254 0.511 0.846 0.90 0.100 None 0 0
Entrez Id: 2653
Gene Symbol: GCSH
GCSH
P23434 glycine cleavage system protein H 34 0.760 0.385 1.6E-03 0.100 None 0 0
Entrez Id: 2710
Gene Symbol: GK
GK
P32189 glycerol kinase Kinase 55 0.656 0.577 0.99 0.100 None 0 0
Entrez Id: 27247
Gene Symbol: NFU1
NFU1
Q9UMS0 NFU1 iron-sulfur cluster scaffold 25 0.769 0.231 4.1E-06 0.100 None 0 0
Entrez Id: 27249
Gene Symbol: MMADHC
MMADHC
Q9H3L0 metabolism of cobalamin associated D 36 0.751 0.385 2.1E-05 0.100 None 0 0
Entrez Id: 29078
Gene Symbol: NDUFAF4
NDUFAF4
Q9P032 NADH:ubiquinone oxidoreductase complex assembly factor 4 63 0.686 0.385 0.55 0.100 None 0 0
Entrez Id: 291
Gene Symbol: SLC25A4
SLC25A4
P12235 solute carrier family 25 member 4 Transporter 160 0.568 0.692 0.45 0.100 None 0 0
Entrez Id: 29110
Gene Symbol: TBK1
TBK1
Q9UHD2 TANK binding kinase 1 Kinase 207 0.513 0.846 7.5E-02 0.100 None 0 0
Entrez Id: 1967
Gene Symbol: EIF2B1
EIF2B1
Q14232 eukaryotic translation initiation factor 2B subunit alpha 62 0.663 0.538 7.6E-05 0.100 None 0 0
Entrez Id: 1807
Gene Symbol: DPYS
DPYS
Q14117 dihydropyrimidinase Enzyme 63 0.621 0.577 2.8E-11 0.100 None 0 0
Entrez Id: 10165
Gene Symbol: SLC25A13
SLC25A13
Q9UJS0 solute carrier family 25 member 13 Transporter 109 0.617 0.500 1.3E-24 0.100 None 0 0
Entrez Id: 11232
Gene Symbol: POLG2
POLG2
Q9UHN1 DNA polymerase gamma 2, accessory subunit Enzyme 158 0.558 0.769 1.5E-10 0.100 None 0 0