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: 5428
Gene Symbol: POLG
POLG
P54098 DNA polymerase gamma, catalytic subunit Enzyme 462 0.457 0.846 2.1E-09 0.100 None 1.000 41 1 2001 2018
Entrez Id: 823
Gene Symbol: CAPN1
CAPN1
P07384 calpain 1 Enzyme 165 0.539 0.808 5.9E-10 0.100 None 0 1
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: 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: 6575
Gene Symbol: SLC20A2
SLC20A2
Q08357 solute carrier family 20 member 2 Transporter 104 0.638 0.577 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: 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: 1600
Gene Symbol: DAB1
DAB1
O75553 DAB adaptor protein 1 Signaling 81 0.626 0.615 1.00 0.100 None 0 0
Entrez Id: 5159
Gene Symbol: PDGFRB
PDGFRB
P09619 platelet derived growth factor receptor beta Kinase 492 0.416 0.846 0.90 0.100 None 0 0
Entrez Id: 5155
Gene Symbol: PDGFB
PDGFB
P01127 platelet derived growth factor subunit B Signaling 301 0.488 0.846 0.77 0.100 None 0 0
Entrez Id: 50484
Gene Symbol: RRM2B
RRM2B
Q7LG56 ribonucleotide reductase regulatory TP53 inducible subunit M2B Enzyme 238 0.527 0.769 2.4E-03 0.100 None 0 0
Entrez Id: 3748
Gene Symbol: KCNC3
KCNC3
Q14003 potassium voltage-gated channel subfamily C member 3 Ion channel 58 0.705 0.462 0.21 0.100 None 0 0
Entrez Id: 2911
Gene Symbol: GRM1
GRM1
Q13255 glutamate metabotropic receptor 1 G-protein coupled receptor 172 0.528 0.808 0.14 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
Entrez Id: 23345
Gene Symbol: SYNE1
SYNE1
Q8NF91 spectrin repeat containing nuclear envelope protein 1 237 0.511 0.846 3.2E-52 0.100 None 0 1
Entrez Id: 9897
Gene Symbol: WASHC5
WASHC5
Q12768 WASH complex subunit 5 Transporter 129 0.572 0.615 8.3E-18 0.100 None 0 0