TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Disease: neurological disability ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs863223921
rs863223921
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C0848771
Disease:
neurological disability 		0.010 GeneticVariation BEFREE A female with significant neurological disability was compound heterozygous for p.(Arg323Gln) and p.(Asn399Ser) variants in Twinkle (C10orf2). 26970254 2017