ATP6, ATP synthase F0 subunit 6, 4508

N. diseases: 226; N. variants: 80
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.110 GeneticVariation disease BEFREE The molecular pathogenic mechanism of the human mitochondrial diseases neurogenic ataxia and retinitis pigmentosa and maternally inherited Leigh syndrome was determined in cultured human cells harboring homoplasmic T8993G/T8993C point mutations in the mitochondrial ATP6 gene, which encodes subunit 6 of the F1F0-ATP synthase. 17121862 2007
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.110 Biomarker disease HPO