Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
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
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
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
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
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
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
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
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
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
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.600 Biomarker disease GENOMICS_ENGLAND
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.600 GeneticVariation disease CLINVAR Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659 2017
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
0.600 GeneticVariation disease UNIPROT Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. 27707659 2017
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
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