Gene table of MTHFR : methylenetetrahydrofolate reductase

Gene-disease associations table

Disease ID	Disease name	Source of annotation with MTHFR	OMIM link	Number of associated genes	genes
181500	SCHIZOPHRENIA	OMIM	link to OMIM	17	COMT, DISC2, MTHFR, DISC1, SYN2, MC4R, DAO, AKT1, HTR2A, APOL2, APOL4, SETD1A, CHI3L1, DTNBP1, RTN4R, DRD3, DAOA
601634	NEURAL TUBE DEFECTS, FOLATE-SENSITIVE	OMIM	link to OMIM	4	MTHFD1, MTRR, MTR, MTHFR
606764	GASTROINTESTINAL STROMAL TUMOR	ClinVar	link to OMIM	10	SDHB, SLC19A1, MTHFR, SDHC, FOLR1, MTRR, KIT, PDGFRA, SHMT1, MTR
236250	HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY	ClinVar, OMIM, HUMSAVAR	link to OMIM	1	MTHFR
PS188050	THROMBOPHILIA	OMIM	link to OMIM	13	HRG, SERPIND1, F5, MTHFR, SERPINC1, THBD, F2, PROS1, PLAT, F9, HABP2, F13A1, PROC

Associated genes in ENSEMBL

Associated proteins - SwissProt Accession ID

Associated PDB IDs

Cytogenetic Band

Tandem repeats annotation

Transcription regulation as annotated in TRRUST

Associated KEGG pathways

Associated REACTOME pathways

REACTOME pathway	REACTOME ID	REACTOME IC
Metabolism of vitamins and cofactors	R-HSA-196854	6.54
Metabolism of water-soluble vitamins and cofactors	R-HSA-196849	6.54
Metabolism	R-HSA-1430728	2.34
Metabolism of folate and pterines	R-HSA-196757	9.81

Associated GO terms for Molecular function

GO term	GO ID	GO IC
coenzyme binding	GO:0050662	4.53
NADP binding	GO:0050661	5.93
flavin adenine dinucleotide binding	GO:0050660	5.41
modified amino acid binding	GO:0072341	5.56
organic cyclic compound binding	GO:0097159	1.05
oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor	GO:0016646	6.79
oxidoreductase activity, acting on the CH-NH group of donors	GO:0016645	6.41
methylenetetrahydrofolate reductase (NAD(P)H) activity	GO:0004489	9.74
small molecule binding	GO:0036094	1.89
catalytic activity	GO:0003824	1.05
cofactor binding	GO:0048037	4.16
binding	GO:0005488	0.18
protein binding	GO:0005515	0.46
protein complex binding	GO:0032403	3.09
macromolecular complex binding	GO:0044877	2.61
nucleotide binding	GO:0000166	1.96
heterocyclic compound binding	GO:1901363	1.06
nucleoside phosphate binding	GO:1901265	1.96
oxidoreductase activity	GO:0016491	3.12