Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Distal sensory impairment
CUI: C1847584
Disease: Distal sensory impairment
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