RNF113A, ring finger protein 113A, 7737

N. diseases: 127; N. variants: 5
Disease: Leigh Disease ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894885
rs104894885
Entrez Id: 4694;7737
Gene Symbol: NDUFA1;RNF113A
NDUFA1;RNF113A
CUI: C0023264
Disease:
Leigh Disease 		0.010 GeneticVariation BEFREE Two novel p.Gly8Arg and p.Arg37Ser hemizygous mutations in NDUFA1 were identified in two unrelated male patients presenting with Leigh's syndrome and with myoclonic epilepsy and developmental delay, respectively. 17262856 2007