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: 4535
Gene Symbol: ND1
ND1
P03886 NADH dehydrogenase, subunit 1 (complex I) Enzyme 260 0.522 0.769 0.100 None 0 0
Entrez Id: 4536
Gene Symbol: ND2
ND2
P03891 MTND2 130 0.601 0.615 0.100 None 0 0
Entrez Id: 4537
Gene Symbol: ND3
ND3
P03897 NADH dehydrogenase, subunit 3 (complex I) 113 0.604 0.654 0.100 None 0 0
Entrez Id: 4576
Gene Symbol: TRNT
TRNT
tRNA 36 0.729 0.538 0.100 None 0 0
Entrez Id: 51594
Gene Symbol: NBAS
NBAS
A2RRP1 NBAS subunit of NRZ tethering complex 123 0.566 0.692 5.0E-43 0.100 None 0 0
Entrez Id: 6261
Gene Symbol: RYR1
RYR1
P21817 ryanodine receptor 1 Ion channel 320 0.489 0.808 1.6E-29 0.100 None 0 0
Entrez Id: 2731
Gene Symbol: GLDC
GLDC
P23378 glycine decarboxylase Enzyme 78 0.628 0.577 6.6E-28 0.110 None 1.000 1 0 1996 1996
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: 6833
Gene Symbol: ABCC8
ABCC8
Q09428 ATP binding cassette subfamily C member 8 Transporter 317 0.474 0.846 8.0E-24 0.100 None 0 0
Entrez Id: 1591
Gene Symbol: CYP24A1
CYP24A1
Q07973 cytochrome P450 family 24 subfamily A member 1 Enzyme 171 0.518 0.692 3.2E-23 0.100 None 0 0
Entrez Id: 4594
Gene Symbol: MMUT
MMUT
P22033 methylmalonyl-CoA mutase Enzyme 147 0.534 0.731 1.7E-22 0.100 None 0 0
Entrez Id: 1806
Gene Symbol: DPYD
DPYD
Q12882 dihydropyrimidine dehydrogenase Enzyme 249 0.493 0.846 3.4E-22 0.110 None 1.000 1 0 2018 2018
Entrez Id: 2998
Gene Symbol: GYS2
GYS2
P54840 glycogen synthase 2 43 0.686 0.462 9.8E-22 0.100 None 0 0
Entrez Id: 1585
Gene Symbol: CYP11B2
CYP11B2
P19099 cytochrome P450 family 11 subfamily B member 2 142 0.553 0.615 7.1E-19 0.100 None 0 0
Entrez Id: 55572
Gene Symbol: FOXRED1
FOXRED1
Q96CU9 FAD dependent oxidoreductase domain containing 1 Enzyme 91 0.633 0.462 2.0E-16 0.100 None 0 0
Entrez Id: 6584
Gene Symbol: SLC22A5
SLC22A5
O76082 solute carrier family 22 member 5 Transporter 103 0.608 0.731 5.3E-16 0.100 None 0 0
Entrez Id: 26136
Gene Symbol: TES
TES
Q9UGI8 testin LIM domain protein Cellular structure 67 0.604 0.692 1.0E-15 0.010 None 1.000 1 0 2017 2017
Entrez Id: 5095
Gene Symbol: PCCA
PCCA
P05165 propionyl-CoA carboxylase subunit alpha Enzyme 57 0.682 0.538 3.1E-15 0.100 None 0 0
Entrez Id: 37
Gene Symbol: ACADVL
ACADVL
P49748 acyl-CoA dehydrogenase very long chain Enzyme 87 0.653 0.654 4.2E-15 0.100 None 0 0
Entrez Id: 3712
Gene Symbol: IVD
IVD
P26440 isovaleryl-CoA dehydrogenase Enzyme 42 0.705 0.462 1.5E-14 0.100 None 0 1
Entrez Id: 4552
Gene Symbol: MTRR
MTRR
Q9UBK8 5-methyltetrahydrofolate-homocysteine methyltransferase reductase 207 0.502 0.808 2.2E-14 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: 166785
Gene Symbol: MMAA
MMAA
Q8IVH4 metabolism of cobalamin associated A 33 0.743 0.346 9.4E-13 0.100 None 0 0
Entrez Id: 5826
Gene Symbol: ABCD4
ABCD4
O14678 ATP binding cassette subfamily D member 4 Transporter 26 0.769 0.308 1.3E-12 0.100 None 0 0
Entrez Id: 33
Gene Symbol: ACADL
ACADL
P28330 acyl-CoA dehydrogenase long chain Enzyme 46 0.736 0.462 1.7E-12 0.100 None 0 0