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- source_evidence_literature type ECO_0000212 NP183872.RARJWWr6VwxyjnVY4FDTtU14kW6ycTJHRV-BD71iMRK_0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP183872.RARJWWr6VwxyjnVY4FDTtU14kW6ycTJHRV-BD71iMRK_0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP183872.RARJWWr6VwxyjnVY4FDTtU14kW6ycTJHRV-BD71iMRK_0130_provenance.
- NP183872.RARJWWr6VwxyjnVY4FDTtU14kW6ycTJHRV-BD71iMRK_0130_assertion description "[In a group of 121 case families (mother, father, and proband with DS and AVSD) and 122 control families (mother, father, and proband with DS and no CHD), tag SNPs were genotyped in and around five folate pathway genes: 5,10-methylenetetrahyrdofolate reductase (MTHFR), methionine synthase (MTR), methionine synthase reductase (MTRR), cystathionine beta-synthase (CBS), and the reduced folate carrier (SLC19A1, RFC1).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP183872.RARJWWr6VwxyjnVY4FDTtU14kW6ycTJHRV-BD71iMRK_0130_provenance.
- NP183872.RARJWWr6VwxyjnVY4FDTtU14kW6ycTJHRV-BD71iMRK_0130_assertion evidence source_evidence_literature NP183872.RARJWWr6VwxyjnVY4FDTtU14kW6ycTJHRV-BD71iMRK_0130_provenance.
- NP183872.RARJWWr6VwxyjnVY4FDTtU14kW6ycTJHRV-BD71iMRK_0130_assertion SIO_000772 20718043 NP183872.RARJWWr6VwxyjnVY4FDTtU14kW6ycTJHRV-BD71iMRK_0130_provenance.
- NP183872.RARJWWr6VwxyjnVY4FDTtU14kW6ycTJHRV-BD71iMRK_0130_assertion wasDerivedFrom gad-20150221 NP183872.RARJWWr6VwxyjnVY4FDTtU14kW6ycTJHRV-BD71iMRK_0130_provenance.
- NP183872.RARJWWr6VwxyjnVY4FDTtU14kW6ycTJHRV-BD71iMRK_0130_assertion wasGeneratedBy ECO_0000203 NP183872.RARJWWr6VwxyjnVY4FDTtU14kW6ycTJHRV-BD71iMRK_0130_provenance.
- gad-20150221 importedOn "2015-02-21" NP183872.RARJWWr6VwxyjnVY4FDTtU14kW6ycTJHRV-BD71iMRK_0130_provenance.