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: 5264
Gene Symbol: PHYH
PHYH 		O14832 phytanoyl-CoA 2-hydroxylase 65 0.659 0.577 2.4E-06 0.100 None 0 0
Entrez Id: 6687
Gene Symbol: SPG7
SPG7 		Q9UQ90 SPG7 matrix AAA peptidase subunit, paraplegin Enzyme 419 0.436 0.885 2.0E-36 0.100 None 0 1
Entrez Id: 5521
Gene Symbol: PPP2R2B
PPP2R2B 		Q00005 protein phosphatase 2 regulatory subunit Bbeta Enzyme 86 0.601 0.577 0.98 0.100 None 0 0
Entrez Id: 7345
Gene Symbol: UCHL1
UCHL1 		P09936 ubiquitin C-terminal hydrolase L1 Enzyme 260 0.482 0.885 0.99 0.100 None 0 0
Entrez Id: 7507
Gene Symbol: XPA
XPA 		P23025 XPA, DNA damage recognition and repair factor Nucleic acid binding 209 0.520 0.846 7.9E-05 0.100 None 0 2
Entrez Id: 7515
Gene Symbol: XRCC1
XRCC1 		P18887 X-ray repair cross complementing 1 410 0.421 0.923 6.3E-09 0.100 None 0 0
Entrez Id: 9517
Gene Symbol: SPTLC2
SPTLC2 		O15270 serine palmitoyltransferase long chain base subunit 2 Enzyme 29 0.736 0.346 0.78 0.100 None 0 0
Entrez Id: 79628
Gene Symbol: SH3TC2
SH3TC2 		Q8TF17 SH3 domain and tetratricopeptide repeats 2 55 0.666 0.385 8.3E-16 0.100 None 0 2
Entrez Id: 8398
Gene Symbol: PLA2G6
PLA2G6 		O60733 phospholipase A2 group VI Enzyme modulator 350 0.476 0.846 2.5E-10 0.100 None 0 1
Entrez Id: 5981
Gene Symbol: RFC1
RFC1 		P35251 replication factor C subunit 1 144 0.541 0.808 0.97 0.100 None 0 0
Entrez Id: 57704
Gene Symbol: GBA2
GBA2 		Q9HCG7 glucosylceramidase beta 2 79 0.636 0.654 2.0E-20 0.100 None 0 0
Entrez Id: 5428
Gene Symbol: POLG
POLG 		P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.100 None 0 0
Entrez Id: 547
Gene Symbol: KIF1A
KIF1A 		Q12756 kinesin family member 1A Cellular structure 187 0.559 0.692 1.00 0.100 None 0 0
Entrez Id: 55157
Gene Symbol: DARS2
DARS2 		Q6PI48 aspartyl-tRNA synthetase 2, mitochondrial Enzyme 92 0.638 0.577 9.8E-13 0.100 None 0 2
Entrez Id: 55699
Gene Symbol: IARS2
IARS2 		Q9NSE4 isoleucyl-tRNA synthetase 2, mitochondrial Enzyme 95 0.590 0.654 8.1E-02 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: 55775
Gene Symbol: TDP1
TDP1 		Q9NUW8 tyrosyl-DNA phosphodiesterase 1 Enzyme 70 0.612 0.538 1.3E-17 0.100 None 0 0
Entrez Id: 5611
Gene Symbol: DNAJC3
DNAJC3 		Q13217 DnaJ heat shock protein family (Hsp40) member C3 38 0.670 0.577 1.7E-02 0.100 None 0 0
Entrez Id: 57410
Gene Symbol: SCYL1
SCYL1 		Q96KG9 SCY1 like pseudokinase 1 Kinase 104 0.582 0.769 2.5E-08 0.100 None 0 0
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1 		O95831 apoptosis inducing factor mitochondria associated 1 Enzyme 205 0.527 0.769 1.00 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: 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: 2583
Gene Symbol: B4GALNT1
B4GALNT1 		Q00973 beta-1,4-N-acetyl-galactosaminyltransferase 1 67 0.644 0.615 3.9E-05 0.100 None 0 0
Entrez Id: 2581
Gene Symbol: GALC
GALC 		P54803 galactosylceramidase 99 0.604 0.615 5.2E-15 0.100 None 0 0
Entrez Id: 246243
Gene Symbol: RNASEH1
RNASEH1 		O60930 ribonuclease H1 52 0.711 0.462 1.1E-02 0.100 None 0 0