Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA
617780C4540434MONDO:0060611
MTHFD1 Causal
19033438 21813566 25548164 25633902 27707659
CTD, ClinVar, Disgenet, HPO, ClinGen
All2 Causal1 Unknown1
Related Diseases Diseases that share the most curated genes with Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia.
5 View disease cluster →
Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency 1 shared geneMTHFD1 Related via 1 shared gene including MTHFD1. Neural tube defects, folate-sensitive 1 shared geneMTHFD1 Related via 1 shared gene including MTHFD1. Cardiac valvular dysplasia 1 shared geneMTHFD1 Related via 1 shared gene including MTHFD1. Down syndrome 1 shared geneMTHFD1 Related via 1 shared gene including MTHFD1. Neural tube defect 2 shared genesZBTB25, MTHFD1 Related via 2 shared genes including ZBTB25, MTHFD1.