Source: CLINGEN

Gene Uniprot Gene Full Name Protein Class pLI DSI g DPI g Num. diseases
BCS1L Q9Y276 BCS1 homolog, ubiquinol-cytochrome c reductase complex chaperone 4.7E-13 0.534 0.808 8
CDH1 P12830 cadherin 1 0.15 0.401 0.808 7
CDKN1B P46527 cyclin dependent kinase inhibitor 1B 0.62 0.409 0.769 7
COX15 Q7KZN9 cytochrome c oxidase assembly homolog COX15 1.1E-13 0.638 0.538 7
NDUFA1 O15239 NADH:ubiquinone oxidoreductase subunit A1 0.55 0.636 0.423 7
NDUFS3 O75489 NADH:ubiquinone oxidoreductase core subunit S3 5.8E-04 0.581 0.769 7
NDUFV1 P49821 NADH:ubiquinone oxidoreductase core subunit V1 6.4E-11 0.617 0.538 7
NDUFS4 O43181 NADH:ubiquinone oxidoreductase subunit S4 3.1E-04 0.587 0.808 7
NDUFV2 P19404 NADH:ubiquinone oxidoreductase core subunit V2 5.6E-03 0.610 0.500 7
PDHA1 P08559 pyruvate dehydrogenase E1 subunit alpha 1 0.99 0.581 0.538 7
SUCLG1 P53597 succinate-CoA ligase GDP/ADP-forming subunit alpha 4.8E-04 0.666 0.423 7
LRPPRC P42704 leucine rich pentatricopeptide repeat containing 2.3E-10 0.493 0.769 7
UQCRQ O14949 ubiquinol-cytochrome c reductase complex III subunit VII 4.8E-02 0.722 0.308 7
TACO1 Q9BSH4 translational activator of cytochrome c oxidase I 1.5E-03 0.647 0.577 7
TTC19 Q6DKK2 tetratricopeptide repeat domain 19 1.4E-08 0.663 0.385 7
PTCD3 Q96EY7 pentatricopeptide repeat domain 3 2.5E-22 0.769 0.192 7
NDUFA12 Q9UI09 NADH:ubiquinone oxidoreductase subunit A12 7.4E-05 0.659 0.462 7
PALB2 Q86YC2 partner and localizer of BRCA2 3.0E-19 0.485 0.769 7
GFM1 Q96RP9 G elongation factor mitochondrial 1 9.3E-13 0.623 0.692 7
NDUFS7 O75251 NADH:ubiquinone oxidoreductase core subunit S7 0.91 0.579 0.769 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
BARD1 Q99728 BRCA1 associated RING domain 1 1.4E-24 0.597 0.538 6
MYH9 P35579 myosin heavy chain 9 1.00 0.505 0.808 6