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- source_evidence_literature type ECO_0000212 NP687280.RAry3-Gb5nC2NcIGOsscJ3OqoLBIuFYhP_EFnsXShOXI0130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP687280.RAry3-Gb5nC2NcIGOsscJ3OqoLBIuFYhP_EFnsXShOXI0130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP687280.RAry3-Gb5nC2NcIGOsscJ3OqoLBIuFYhP_EFnsXShOXI0130_provenance.
- NP687280.RAry3-Gb5nC2NcIGOsscJ3OqoLBIuFYhP_EFnsXShOXI0130_assertion description "[Although mutations in eight different genes (EDNRB, EDN3, ECE1, SOX10, RET, GDNF, NTN, SIP1) have been identified in affected individuals, it is now clear that RET and EDNRB are the primary genes implicated in the etiology of HSCR.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP687280.RAry3-Gb5nC2NcIGOsscJ3OqoLBIuFYhP_EFnsXShOXI0130_provenance.
- NP687280.RAry3-Gb5nC2NcIGOsscJ3OqoLBIuFYhP_EFnsXShOXI0130_assertion evidence source_evidence_literature NP687280.RAry3-Gb5nC2NcIGOsscJ3OqoLBIuFYhP_EFnsXShOXI0130_provenance.
- NP687280.RAry3-Gb5nC2NcIGOsscJ3OqoLBIuFYhP_EFnsXShOXI0130_assertion SIO_000772 16618617 NP687280.RAry3-Gb5nC2NcIGOsscJ3OqoLBIuFYhP_EFnsXShOXI0130_provenance.
- NP687280.RAry3-Gb5nC2NcIGOsscJ3OqoLBIuFYhP_EFnsXShOXI0130_assertion wasDerivedFrom befree-20150227 NP687280.RAry3-Gb5nC2NcIGOsscJ3OqoLBIuFYhP_EFnsXShOXI0130_provenance.
- NP687280.RAry3-Gb5nC2NcIGOsscJ3OqoLBIuFYhP_EFnsXShOXI0130_assertion wasGeneratedBy ECO_0000203 NP687280.RAry3-Gb5nC2NcIGOsscJ3OqoLBIuFYhP_EFnsXShOXI0130_provenance.
- befree-20150227 importedOn "2015-02-27" NP687280.RAry3-Gb5nC2NcIGOsscJ3OqoLBIuFYhP_EFnsXShOXI0130_provenance.