Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/nanopublications.trig#NP615340.RAegpoh9u2AMaaHYFYADM_8bqtly3sUHXRiFaO8W1ljvk130_provenance>. }
Showing items 1 to 9 of
9
with 100 items per page.
- source_evidence_literature type ECO_0000212 NP615340.RAegpoh9u2AMaaHYFYADM_8bqtly3sUHXRiFaO8W1ljvk130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP615340.RAegpoh9u2AMaaHYFYADM_8bqtly3sUHXRiFaO8W1ljvk130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP615340.RAegpoh9u2AMaaHYFYADM_8bqtly3sUHXRiFaO8W1ljvk130_provenance.
- NP615340.RAegpoh9u2AMaaHYFYADM_8bqtly3sUHXRiFaO8W1ljvk130_assertion description "[Hypoparathyroidism-retardation-dysmorphism (HRD) or Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive (AR) inherited condition, characterized by congenital hypoparathyroidism (hypoPTH), retardation, seizures, and a typical facial dysmorphism, consisting of prominent forehead, deep-set eyes, and abnormal external ears.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP615340.RAegpoh9u2AMaaHYFYADM_8bqtly3sUHXRiFaO8W1ljvk130_provenance.
- NP615340.RAegpoh9u2AMaaHYFYADM_8bqtly3sUHXRiFaO8W1ljvk130_assertion evidence source_evidence_literature NP615340.RAegpoh9u2AMaaHYFYADM_8bqtly3sUHXRiFaO8W1ljvk130_provenance.
- NP615340.RAegpoh9u2AMaaHYFYADM_8bqtly3sUHXRiFaO8W1ljvk130_assertion SIO_000772 16470743 NP615340.RAegpoh9u2AMaaHYFYADM_8bqtly3sUHXRiFaO8W1ljvk130_provenance.
- NP615340.RAegpoh9u2AMaaHYFYADM_8bqtly3sUHXRiFaO8W1ljvk130_assertion wasDerivedFrom befree-20140225 NP615340.RAegpoh9u2AMaaHYFYADM_8bqtly3sUHXRiFaO8W1ljvk130_provenance.
- NP615340.RAegpoh9u2AMaaHYFYADM_8bqtly3sUHXRiFaO8W1ljvk130_assertion wasGeneratedBy ECO_0000203 NP615340.RAegpoh9u2AMaaHYFYADM_8bqtly3sUHXRiFaO8W1ljvk130_provenance.
- befree-20140225 importedOn "2014-02-25" NP615340.RAegpoh9u2AMaaHYFYADM_8bqtly3sUHXRiFaO8W1ljvk130_provenance.