Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1 		0.600 GeneticVariation disease UNIPROT Confirmation of the R653Q polymorphism of the trifunctional C1-synthase enzyme as a maternal risk for neural tube defects in the Irish population. 16552426 2006
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1 		0.600 GeneticVariation disease UNIPROT A polymorphism, R653Q, in the trifunctional enzyme methylenetetrahydrofolate dehydrogenase/methenyltetrahydrofolate cyclohydrolase/formyltetrahydrofolate synthetase is a maternal genetic risk factor for neural tube defects: report of the Birth Defects Research Group. 12384833 2002
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1 		0.600 GeneticVariation disease UNIPROT Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects. 9611072 1998
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1 		0.600 Biomarker disease CTD_human
Entrez Id: 4522
Gene Symbol: MTHFD1
MTHFD1 		0.600 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4552
Gene Symbol: MTRR
MTRR 		0.500 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4548
Gene Symbol: MTR
MTR 		0.500 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.500 Biomarker disease MGD Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition. 11181567 2001
Entrez Id: 4548
Gene Symbol: MTR
MTR 		0.500 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 4552
Gene Symbol: MTRR
MTRR 		0.500 Biomarker disease CTD_human
Entrez Id: 4524
Gene Symbol: MTHFR
MTHFR 		0.500 Biomarker disease CTD_human
Entrez Id: 4548
Gene Symbol: MTR
MTR 		0.500 Biomarker disease CTD_human
Entrez Id: 25902
Gene Symbol: MTHFD1L
MTHFD1L 		0.200 Biomarker disease MGD Deletion of Mthfd1l causes embryonic lethality and neural tube and craniofacial defects in mice. 23267094 2013
Entrez Id: 5077
Gene Symbol: PAX3
PAX3 		0.200 Biomarker disease MGD Identification of a novel nonsense mutation on the Pax3 gene in ENU-derived white belly spotting mice and its genetic interaction with c-Kit. 20095975 2010
Entrez Id: 4040
Gene Symbol: LRP6
LRP6 		0.200 Biomarker disease MGD Crooked tail (Cd) model of human folate-responsive neural tube defects is mutated in Wnt coreceptor lipoprotein receptor-related protein 6. 16126904 2005
Entrez Id: 4040
Gene Symbol: LRP6
LRP6 		0.200 Biomarker disease MGD Crooked tail (Cd) models human folate-responsive neural tube defects. 10545599 1999
Entrez Id: 57216
Gene Symbol: VANGL2
VANGL2 		0.200 Biomarker disease MGD Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defects. 9545534 1998
Entrez Id: 4040
Gene Symbol: LRP6
LRP6 		0.200 Biomarker disease MGD Genes and genotypes affecting the teeth of the mouse. 5893447 1965