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- source_evidence_literature type ECO_0000212 NP243514.RA3A4j2AHdoNY_GWyEsike9eLyRKJaxrLRZWyxuPToeUo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP243514.RA3A4j2AHdoNY_GWyEsike9eLyRKJaxrLRZWyxuPToeUo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP243514.RA3A4j2AHdoNY_GWyEsike9eLyRKJaxrLRZWyxuPToeUo130_provenance.
- NP243514.RA3A4j2AHdoNY_GWyEsike9eLyRKJaxrLRZWyxuPToeUo130_assertion description "[Identification of mutations in the ATP binding cassette transporter 1 (ABCA1) gene in patients with Tangier disease, who exhibit reduced HDL cholesterol and apolipoprotein A1 concentrations and premature coronary atherosclerosis, has led us to hypothesise that ABCA1 could play a key role in the onset of premature CHD in FH.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP243514.RA3A4j2AHdoNY_GWyEsike9eLyRKJaxrLRZWyxuPToeUo130_provenance.
- NP243514.RA3A4j2AHdoNY_GWyEsike9eLyRKJaxrLRZWyxuPToeUo130_assertion evidence source_evidence_literature NP243514.RA3A4j2AHdoNY_GWyEsike9eLyRKJaxrLRZWyxuPToeUo130_provenance.
- NP243514.RA3A4j2AHdoNY_GWyEsike9eLyRKJaxrLRZWyxuPToeUo130_assertion SIO_000772 12624133 NP243514.RA3A4j2AHdoNY_GWyEsike9eLyRKJaxrLRZWyxuPToeUo130_provenance.
- NP243514.RA3A4j2AHdoNY_GWyEsike9eLyRKJaxrLRZWyxuPToeUo130_assertion wasDerivedFrom befree-20150227 NP243514.RA3A4j2AHdoNY_GWyEsike9eLyRKJaxrLRZWyxuPToeUo130_provenance.
- NP243514.RA3A4j2AHdoNY_GWyEsike9eLyRKJaxrLRZWyxuPToeUo130_assertion wasGeneratedBy ECO_0000203 NP243514.RA3A4j2AHdoNY_GWyEsike9eLyRKJaxrLRZWyxuPToeUo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP243514.RA3A4j2AHdoNY_GWyEsike9eLyRKJaxrLRZWyxuPToeUo130_provenance.