RPAIN, RPA interacting protein, 84268

N. diseases: 60; N. variants: 8
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1555532484
rs1555532484
Entrez Id: 708;84268
Gene Symbol: C1QBP;RPAIN
C1QBP;RPAIN
CUI: C4540209
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 		0.800 GeneticVariation UNIPROT Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies. 28942965 2017
dbSNP: rs1555532484
rs1555532484
Entrez Id: 708;84268
Gene Symbol: C1QBP;RPAIN
C1QBP;RPAIN
CUI: C4540209
Disease:
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 33 		A 0.800 CausalMutation CLINVAR