Source: CLINVAR ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
0.100 CausalMutation phenotype CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907 2014
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
0.100 CausalMutation phenotype CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147 2011