Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
0.700 CausalMutation CLINVAR Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. 29571850 2018