PEX6, peroxisomal biogenesis factor 6, 5190

N. diseases: 232; N. variants: 58
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1849094
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 3 		0.300 GermlineCausalMutation disease ORPHANET Genes for spinocerebellar ataxia with blindness and deafness (SCABD/SCAR3, MIM# 271250 and SCABD2). 26669662 2016