SLC25A4, solute carrier family 25 member 4, 291

N. diseases: 160; N. variants: 12
Disease: Muscle hypotonia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs886041081
rs886041081
Entrez Id: 291
Gene Symbol: SLC25A4
SLC25A4
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 CausalMutation CLINVAR Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number. 27693233 2016