ABHD12, abhydrolase domain containing 12, 26090

N. diseases: 60; N. variants: 19
Disease: Usher Syndrome, Type III ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		0.020 GeneticVariation disease BEFREE A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. 30974196 2019
CUI: C1568248
Disease: Usher Syndrome, Type III
Usher Syndrome, Type III 		0.020 GeneticVariation disease BEFREE 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