rs867410737, ATP5F1D

N. diseases: 45
Disease: Cafe-au-Lait Spots ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cafe-au-Lait Spots
CUI: C0221263
Disease: Cafe-au-Lait Spots
0.700 CausalMutation CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018