ATP5F1D, ATP synthase F1 subunit delta, 513

N. diseases: 69; N. variants: 2
Disease: Thickened nuchal skin fold ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836940
Disease: Thickened nuchal skin fold
Thickened nuchal skin fold 		0.100 CausalMutation phenotype CLINVAR Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder. 29478781 2018