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: 120227
Gene Symbol: CYP2R1
CYP2R1
Q6VVX0 cytochrome P450 family 2 subfamily R member 1 139 0.563 0.731 3.8E-10 0.100 None 0 0
Entrez Id: 6514
Gene Symbol: SLC2A2
SLC2A2
P11168 solute carrier family 2 member 2 Transporter 123 0.572 0.692 3.4E-08 0.100 None 0 0
Entrez Id: 55768
Gene Symbol: NGLY1
NGLY1
Q96IV0 N-glycanase 1 Enzyme 149 0.601 0.654 1.5E-13 0.100 None 0 0
Entrez Id: 2184
Gene Symbol: FAH
FAH
P16930 fumarylacetoacetate hydrolase 78 0.612 0.538 4.0E-17 0.100 None 0 0
Entrez Id: 2110
Gene Symbol: ETFDH
ETFDH
Q16134 electron transfer flavoprotein dehydrogenase Enzyme 59 0.678 0.462 2.8E-13 0.100 None 0 0
Entrez Id: 2109
Gene Symbol: ETFB
ETFB
P38117 electron transfer flavoprotein subunit beta Enzyme 49 0.711 0.538 1.7E-02 0.100 None 0 0
Entrez Id: 2108
Gene Symbol: ETFA
ETFA
P13804 electron transfer flavoprotein subunit alpha Enzyme 195 0.508 0.731 2.9E-03 0.100 None 0 0
Entrez Id: 1716
Gene Symbol: DGUOK
DGUOK
Q16854 deoxyguanosine kinase Kinase 112 0.593 0.500 3.7E-07 0.100 None 0 0
Entrez Id: 1594
Gene Symbol: CYP27B1
CYP27B1
O15528 cytochrome P450 family 27 subfamily B member 1 Enzyme 229 0.502 0.769 1.9E-07 0.100 None 0 0
Entrez Id: 1497
Gene Symbol: CTNS
CTNS
O60931 cystinosin, lysosomal cystine transporter 88 0.628 0.538 3.1E-04 0.100 None 0 0
Entrez Id: 6569
Gene Symbol: SLC34A1
SLC34A1
Q06495 solute carrier family 34 member 1 Transporter 73 0.619 0.423 8.9E-27 0.100 None 0 0