Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital pes cavus
CUI: C0728829
Disease: Congenital pes cavus
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