MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 192; N. variants: 93
Disease: Methylenetetrahydrofolate reductase deficiency ×
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		0.700 Biomarker disease CLINGEN Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system. 27743313 2017
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		0.700 Biomarker disease CLINGEN Rare mutations in the MTHFR gene have been associated with autosomal recessive MTHFR deficiency leading to homocystinuria. 27130656 2016
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		0.700 Biomarker disease CLINGEN Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. 25736335 2015
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		0.700 Biomarker disease CLINGEN Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients. 20356773 2010
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		0.700 Biomarker disease CLINGEN Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency. 12733064 2003
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		0.700 Biomarker disease CLINGEN To investigate the in vivo pathogenetic mechanisms of MTHFR deficiency, we generated mice with a knockout of MTHFR: Plasma total homocysteine levels in heterozygous and homozygous knockout mice are 1.6- and 10-fold higher than those in wild-type littermates, respectively. 11181567 2001
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		0.700 Biomarker disease CLINGEN Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. 7920641 1994
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		0.700 GermlineCausalMutation disease ORPHANET
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		0.700 Biomarker disease CTD_human