Gene: MTHFD1 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1 		0.120 Biomarker disease HPO
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1 		0.120 Biomarker disease BEFREE Methylenetetrahydrofolate dehydrogenase (MTHFD1) deficiency has recently been reported to cause a folate-responsive syndrome displaying a phenotype that includes megaloblastic anemia and severe combined immunodeficiency. 27707659 2017
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1 		0.120 Biomarker disease BEFREE These results provide evidence that impaired nuclear de novo dTMP biosynthesis can lead to both megaloblastic anemia and SCID in MTHFD1 deficiency. 25548164 2015