Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs587777016
rs587777016
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
CUI: C3809165
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		0.800 GeneticVariation UNIPROT Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy. 23462291 2013
dbSNP: rs587777016
rs587777016
Entrez Id: 200205
Gene Symbol: IBA57
IBA57
CUI: C3809165
Disease:
MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 3 		C 0.800 CausalMutation CLINVAR