Source: ALL
Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.600 | GeneticVariation | disease | CLINVAR | Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. | 27707659 | 2017 | ||||
|
0.600 | GeneticVariation | disease | UNIPROT | Precision Molecular Diagnosis Defines Specific Therapy in Combined Immunodeficiency with Megaloblastic Anemia Secondary to MTHFD1 Deficiency. | 27707659 | 2017 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.600 | Biomarker | disease | GENOMICS_ENGLAND |