PACC1, proton activated chloride channel 1, 55248

N. diseases: 100; N. variants: 2
Disease: Optic Atrophy 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0338508
Disease: Optic Atrophy 1
Optic Atrophy 1 		0.010 GeneticVariation disease BEFREE Focusing on the genetic interval of approximately 1 Mb between markers D3S3669 and D3S3562 we established a sequence-ready PAC contig which covers the OPA1 locus containing the gene causing autosomal dominant optic atrophy (ADOA; OMIM*165500). 11313765 2001