MTHFR, methylenetetrahydrofolate reductase, 4524

N. diseases: 985; N. variants: 137
Source: ALL
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 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
CUI: C0036341
Disease: Schizophrenia
Schizophrenia 		0.500 Biomarker disease HPO
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.500 Biomarker group HPO
CUI: C0080178
Disease: Spina Bifida
Spina Bifida 		0.500 Biomarker disease HPO
CUI: C0149871
Disease: Deep Vein Thrombosis
Deep Vein Thrombosis 		0.500 Biomarker disease HPO
CUI: C1866558
Disease: Neural tube defect, folate-sensitive
Neural tube defect, folate-sensitive 		0.500 Biomarker disease CTD_human
CUI: C0025312
Disease: Meningomyelocele
Meningomyelocele 		0.470 SusceptibilityMutation disease CLINVAR
CUI: C0002902
Disease: Anencephaly
Anencephaly 		0.440 Biomarker disease HPO
CUI: C0036572
Disease: Seizures
Seizures 		0.440 Biomarker phenotype HPO
CUI: C0034065
Disease: Pulmonary Embolism
Pulmonary Embolism 		0.400 Biomarker disease HPO
CUI: C4017062
Disease: HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY
HOMOCYSTINURIA DUE TO MTHFR DEFICIENCY 		0.400 CausalMutation disease CLINVAR
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
THROMBOPHILIA DUE TO THROMBIN DEFECT 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0151945
Disease: Thrombosis of cerebral veins
Thrombosis of cerebral veins 		0.200 Biomarker disease HPO
CUI: C0019880
Disease: Homocystinuria
Homocystinuria 		0.170 Biomarker disease HPO
CUI: C0233514
Disease: Abnormal behavior
Abnormal behavior 		0.170 Biomarker phenotype HPO
CUI: C0030554
Disease: Paresthesia
Paresthesia 		0.110 Biomarker phenotype HPO
CUI: C0557874
Disease: Global developmental delay
Global developmental delay 		0.110 Biomarker disease HPO
CUI: C0001403
Disease: Addison Disease
Addison Disease 		0.100 Biomarker disease HPO
CUI: C0011253
Disease: Delusions
Delusions 		0.100 Biomarker disease HPO
CUI: C0018524
Disease: Hallucinations
Hallucinations 		0.100 Biomarker disease HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0027562
Disease: Negativism
Negativism 		0.100 Biomarker phenotype HPO
CUI: C0040038
Disease: Thromboembolism
Thromboembolism 		0.100 Biomarker phenotype HPO