rs201431517, MTFMT

N. diseases: 17
Disease: Bilateral striatal necrosis ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Bilateral striatal necrosis
CUI: C4013993
Disease: Bilateral striatal necrosis
0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907 2014
Bilateral striatal necrosis
CUI: C4013993
Disease: Bilateral striatal necrosis
0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147 2011