rs201431517, MTFMT

N. diseases: 17
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neurodegeneration Due To Cerebral Folate Transport Deficiency
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.700 CausalMutation CLINVAR Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. 24461907 2014
Neurodegeneration Due To Cerebral Folate Transport Deficiency
CUI: C2751584
Disease: Neurodegeneration Due To Cerebral Folate Transport Deficiency
0.700 CausalMutation CLINVAR Mutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translation. 21907147 2011