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: 11333
Gene Symbol: PDAP1
PDAP1
Q13442 PDGFA associated protein 1 95 0.576 0.769 5.0E-02 0.300 limited 0 0
Entrez Id: 114902
Gene Symbol: C1QTNF5
C1QTNF5
Q9BXJ0 C1q and TNF related 5 45 0.663 0.346 0.84 0.300 strong 0 0
Entrez Id: 23287
Gene Symbol: AGTPBP1
AGTPBP1
Q9UPW5 ATP/GTP binding protein 1 Enzyme 63 0.650 0.538 0.42 0.200 None 0 0
Entrez Id: 6533
Gene Symbol: SLC6A6
SLC6A6
P31641 solute carrier family 6 member 6 Transporter 34 0.682 0.538 0.99 0.200 None 0 0
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
P50542 peroxisomal biogenesis factor 5 Transporter 174 0.561 0.731 5.6E-05 0.100 None 0 0
Entrez Id: 617
Gene Symbol: BCS1L
BCS1L
Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 172 0.534 0.808 4.7E-13 0.100 None 0 0
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
P35498 sodium voltage-gated channel alpha subunit 1 Ion channel 287 0.477 0.808 1.00 0.100 None 0 0
Entrez Id: 6341
Gene Symbol: SCO1
SCO1
O75880 synthesis of cytochrome C oxidase 1 Enzyme 71 0.638 0.769 2.2E-04 0.100 None 0 0
Entrez Id: 6389
Gene Symbol: SDHA
SDHA
P31040 succinate dehydrogenase complex flavoprotein subunit A Enzyme 246 0.517 0.731 2.6E-10 0.100 None 0 0
Entrez Id: 6390
Gene Symbol: SDHB
SDHB
P21912 succinate dehydrogenase complex iron sulfur subunit B Enzyme 316 0.474 0.846 2.4E-04 0.100 None 0 0
Entrez Id: 5828
Gene Symbol: PEX2
PEX2
P28328 peroxisomal biogenesis factor 2 152 0.582 0.654 2.6E-04 0.100 None 0 0
Entrez Id: 338917
Gene Symbol: VSX2
VSX2
P58304 visual system homeobox 2 24 0.695 0.462 1.6E-04 0.100 None 0 1
Entrez Id: 2937
Gene Symbol: GSS
GSS
P48637 glutathione synthetase Enzyme 73 0.626 0.731 1.8E-06 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: 326
Gene Symbol: AIRE
AIRE
O43918 autoimmune regulator 175 0.516 0.808 4.0E-12 0.100 None 0 0
Entrez Id: 55967
Gene Symbol: NDUFA12
NDUFA12
Q9UI09 NADH:ubiquinone oxidoreductase subunit A12 50 0.659 0.462 7.4E-05 0.100 None 0 0
Entrez Id: 3052
Gene Symbol: HCCS
HCCS
P53701 holocytochrome c synthase Enzyme 135 0.559 0.731 0.89 0.100 None 0 0
Entrez Id: 3033
Gene Symbol: HADH
HADH
Q16836 hydroxyacyl-CoA dehydrogenase 72 0.650 0.538 6.6E-05 0.100 None 0 0
Entrez Id: 3032
Gene Symbol: HADHB
HADHB
P55084 hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta Enzyme 101 0.619 0.692 1.5E-11 0.100 None 0 0
Entrez Id: 29954
Gene Symbol: POMT2
POMT2
Q9UKY4 protein O-mannosyltransferase 2 177 0.544 0.615 9.4E-12 0.100 None 0 0
Entrez Id: 29925
Gene Symbol: GMPPB
GMPPB
Q9Y5P6 GDP-mannose pyrophosphorylase B 158 0.578 0.538 8.4E-07 0.100 None 0 0
Entrez Id: 6392
Gene Symbol: SDHD
SDHD
O14521 succinate dehydrogenase complex subunit D Transporter 348 0.472 0.885 0.34 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: 2074
Gene Symbol: ERCC6
ERCC6
P0DP91 Q03468 ERCC excision repair 6, chromatin remodeling factor 257 0.507 0.808 5.2E-22 0.100 None 0 0
Entrez Id: 2071
Gene Symbol: ERCC3
ERCC3
P19447 ERCC excision repair 3, TFIIH core complex helicase subunit Enzyme 253 0.504 0.846 3.4E-11 0.100 None 0 0