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- source_evidence_literature type ECO_0000212 NP764349.RAkXIYxbzIMeGLSMygK_H4Q2vrq1pDK1iEL3arSTJpxMo130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP764349.RAkXIYxbzIMeGLSMygK_H4Q2vrq1pDK1iEL3arSTJpxMo130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP764349.RAkXIYxbzIMeGLSMygK_H4Q2vrq1pDK1iEL3arSTJpxMo130_provenance.
- NP764349.RAkXIYxbzIMeGLSMygK_H4Q2vrq1pDK1iEL3arSTJpxMo130_assertion description "[Blood samples were collected from 23 probands and 13 affected family members from 23 genetically unrelated Indian families (22 diagnosed as OCA and 1 diagnosed as OA) and analyzed by bidirectional DNA sequencing of the classic OCA genes--tyrosinase (TYR, or oculocutaneous albinism IA), pink eyed dilution (P; or oculocutaneous albinism II (OCA2]), tyrosinase-related protein 1 (TYRP1), solute carrier family 45, member 2 (SLC45A2; or membrane-associated transporter protein [MATP])--and the OA1 gene, G protein-coupled receptor 143 (GPR143).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP764349.RAkXIYxbzIMeGLSMygK_H4Q2vrq1pDK1iEL3arSTJpxMo130_provenance.
- NP764349.RAkXIYxbzIMeGLSMygK_H4Q2vrq1pDK1iEL3arSTJpxMo130_assertion evidence source_evidence_literature NP764349.RAkXIYxbzIMeGLSMygK_H4Q2vrq1pDK1iEL3arSTJpxMo130_provenance.
- NP764349.RAkXIYxbzIMeGLSMygK_H4Q2vrq1pDK1iEL3arSTJpxMo130_assertion SIO_000772 20806075 NP764349.RAkXIYxbzIMeGLSMygK_H4Q2vrq1pDK1iEL3arSTJpxMo130_provenance.
- NP764349.RAkXIYxbzIMeGLSMygK_H4Q2vrq1pDK1iEL3arSTJpxMo130_assertion wasDerivedFrom befree-20150227 NP764349.RAkXIYxbzIMeGLSMygK_H4Q2vrq1pDK1iEL3arSTJpxMo130_provenance.
- NP764349.RAkXIYxbzIMeGLSMygK_H4Q2vrq1pDK1iEL3arSTJpxMo130_assertion wasGeneratedBy ECO_0000203 NP764349.RAkXIYxbzIMeGLSMygK_H4Q2vrq1pDK1iEL3arSTJpxMo130_provenance.
- befree-20150227 importedOn "2015-02-27" NP764349.RAkXIYxbzIMeGLSMygK_H4Q2vrq1pDK1iEL3arSTJpxMo130_provenance.