Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		0.700 Biomarker GENOMICS_ENGLAND

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		0.700 GermlineCausalMutation ORPHANET

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1856061
Disease: Methylenetetrahydrofolate reductase deficiency
Methylenetetrahydrofolate reductase deficiency 		0.700 Biomarker CTD_human

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.500 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.500 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.500 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.500 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		0.500 Biomarker CTD_human

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		0.470 SusceptibilityMutation CLINVAR

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0002902
Disease: Anencephaly
Anencephaly 		0.440 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0036572
Disease: Seizures
Seizures 		0.440 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism 		0.400 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C4017062
Disease: HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY 		0.400 CausalMutation CLINVAR

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
THROMBOPHILIA DUE TO THROMBIN DEFECT 		0.300 Biomarker GENOMICS_ENGLAND

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.200 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		0.170 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.170 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0030554
Disease: Paresthesia
Paresthesia 		0.110 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0001403
Disease: Addison Disease
Addison Disease 		0.100 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0011253
Disease: Delusions
Delusions 		0.100 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0018524
Disease: Hallucinations
Hallucinations 		0.100 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0027562
Disease: Negativism
Negativism 		0.100 Biomarker HPO

Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR
CUI: C0040038
Disease: Thromboembolism
Thromboembolism 		0.100 Biomarker HPO