ABHD12, abhydrolase domain containing 12, 26090

N. diseases: 60; N. variants: 19
Disease: Retinal Dystrophies ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 CausalMutation group CLINVAR Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3. 22938382 2012
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		0.100 GeneticVariation group CLINVAR