Source: CLINGEN

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
NDUFA12 Q9UI09 NADH:ubiquinone oxidoreductase subunit A12 7.4E-05 0.659 0.462 7
NDUFA2 O43678 NADH:ubiquinone oxidoreductase subunit A2 Enzyme 0.77 0.617 0.577 7
NDUFA9 Q16795 NADH:ubiquinone oxidoreductase subunit A9 Enzyme 4.8E-03 0.653 0.385 7
NDUFS1 P28331 NADH:ubiquinone oxidoreductase core subunit S1 Enzyme 6.6E-11 0.595 0.692 7
NDUFS3 O75489 NADH:ubiquinone oxidoreductase core subunit S3 5.8E-04 0.581 0.769 7
NDUFS4 O43181 NADH:ubiquinone oxidoreductase subunit S4 3.1E-04 0.587 0.808 7
NDUFS7 O75251 NADH:ubiquinone oxidoreductase core subunit S7 0.91 0.579 0.769 7
NDUFS8 O00217 NADH:ubiquinone oxidoreductase core subunit S8 Enzyme 0.17 0.636 0.538 7
NDUFV1 P49821 NADH:ubiquinone oxidoreductase core subunit V1 6.4E-11 0.617 0.538 7
NDUFV2 P19404 NADH:ubiquinone oxidoreductase core subunit V2 5.6E-03 0.610 0.500 7
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 7
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538 7
PET100 P0DJ07 PET100 cytochrome c oxidase chaperone 3.6E-04 0.650 0.577 7
PET117 Q6UWS5 PET117 cytochrome c oxidase chaperone 3.2E-02 0.769 0.154 7
PMS2 P54278 PMS1 homolog 2, mismatch repair system component Nucleic acid binding 4.5E-27 0.484 0.808 7
PTCD3 Q96EY7 pentatricopeptide repeat domain 3 2.5E-22 0.769 0.192 7
SCN10A Q9Y5Y9 sodium voltage-gated channel alpha subunit 10 Ion channel 9.9E-38 0.566 0.692 7
SCN1B Q07699 sodium voltage-gated channel beta subunit 1 Ion channel 0.10 0.575 0.538 7
SCN2B O60939 sodium voltage-gated channel beta subunit 2 Ion channel 1.7E-03 0.678 0.192 7
SCN3B Q9NY72 sodium voltage-gated channel beta subunit 3 Ion channel 5.1E-02 0.686 0.269 7
SCO2 O43819 synthesis of cytochrome C oxidase 2 Enzyme 7.5E-07 0.479 0.846 7
SLC19A3 Q9BZV2 solute carrier family 19 member 3 Transporter 0.10 0.610 0.692 7
SUCLA2 Q9P2R7 succinate-CoA ligase ADP-forming subunit beta Enzyme 2.3E-03 0.566 0.654 7
SUCLG1 P53597 succinate-CoA ligase GDP/ADP-forming subunit alpha 4.8E-04 0.666 0.423 7