Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.600 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.600 Biomarker disease GENOMICS_ENGLAND Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902 2015
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.600 GeneticVariation disease UNIPROT Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902 2015
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.600 GeneticVariation disease CLINVAR Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902 2015
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.600 CausalMutation disease CLINVAR Characterization and review of MTHFD1 deficiency: four new patients, cellular delineation and response to folic and folinic acid treatment. 25633902 2015
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.600 GeneticVariation disease UNIPROT Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. 21813566 2011
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.600 GeneticVariation disease CLINVAR Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband. 21813566 2011
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.600 GeneticVariation disease CLINVAR Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659 2017
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1
0.600 GeneticVariation disease UNIPROT Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659 2017