Disease: 3-@METHYLGLUTACONIC ACIDURIA, TYPE V ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs137854888
rs137854888
Entrez Id: 131118
Gene Symbol: DNAJC19
DNAJC19
CUI: C1857776
Disease:
3-@METHYLGLUTACONIC ACIDURIA, TYPE V 		G 0.700 CausalMutation CLINVAR Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition. 16055927 2006