Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856059
Disease: Mthfr Deficiency, Thermolabile Type
Mthfr Deficiency, Thermolabile Type 		0.300 Biomarker CLINGEN Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system. 27743313

2017
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856059
Disease: Mthfr Deficiency, Thermolabile Type
Mthfr Deficiency, Thermolabile Type 		0.300 Biomarker CLINGEN MTHFR: Addressing Genetic Counseling Dilemmas Using Evidence-Based Literature. 27130656

2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856059
Disease: Mthfr Deficiency, Thermolabile Type
Mthfr Deficiency, Thermolabile Type 		0.300 Biomarker CLINGEN Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. 25736335

2015
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856059
Disease: Mthfr Deficiency, Thermolabile Type
Mthfr Deficiency, Thermolabile Type 		0.300 Biomarker CLINGEN Life-threatening methylenetetrahydrofolate reductase (MTHFR) deficiency with extremely early onset: characterization of two novel mutations in compound heterozygous patients. 20356773

2010
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856059
Disease: Mthfr Deficiency, Thermolabile Type
Mthfr Deficiency, Thermolabile Type 		0.300 Biomarker CLINGEN Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency. 12733064

2003
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856059
Disease: Mthfr Deficiency, Thermolabile Type
Mthfr Deficiency, Thermolabile Type 		0.300 Biomarker CLINGEN Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. 11181567

2001
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856059
Disease: Mthfr Deficiency, Thermolabile Type
Mthfr Deficiency, Thermolabile Type 		0.300 Biomarker CLINGEN Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. 7920641

1994