Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Sensorimotor neuropathy
CUI: C1112256
Disease: Sensorimotor neuropathy
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