Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
0.600 Biomarker disease GENOMICS_ENGLAND 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
0.600 Biomarker disease GENOMICS_ENGLAND Clinical and functional characterisation of the combined respiratory chain defect in two sisters due to autosomal recessive mutations in MTFMT. 23499752 2013
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
0.600 GeneticVariation disease UNIPROT Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
0.600 Biomarker disease GENOMICS_ENGLAND Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. 22499348 2012
Entrez Id: 123263
Gene Symbol: MTFMT
MTFMT
0.600 CausalMutation disease CLINVAR