Matches in Nanopublications for { ?s ?p ?o <http://rdf.disgenet.org/resource/nanopub/NP31268.RA5uEYOoT1DgscTLyAAUK66BZlz8NEZN4N68iEl6w2YBI130_provenance>. }
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- source_evidence_curated type ECO_0000205 NP31268.RA5uEYOoT1DgscTLyAAUK66BZlz8NEZN4N68iEl6w2YBI130_provenance.
- source_evidence_curated label "DisGeNET evidence - CURATED" NP31268.RA5uEYOoT1DgscTLyAAUK66BZlz8NEZN4N68iEl6w2YBI130_provenance.
- source_evidence_curated comment "Gene-disease associations manually curated." NP31268.RA5uEYOoT1DgscTLyAAUK66BZlz8NEZN4N68iEl6w2YBI130_provenance.
- NP31268.RA5uEYOoT1DgscTLyAAUK66BZlz8NEZN4N68iEl6w2YBI130_assertion description "[Autosomal recessive ichthyosis with hypotrichosis (ARIH) syndrome, which is characterized by congenital ichthyosis, abnormal hair and corneal involvement, has recently been shown in one consanguineous Israeli Arab family to be caused by a mutation in the ST14 gene, which encodes serine protease matriptase.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP31268.RA5uEYOoT1DgscTLyAAUK66BZlz8NEZN4N68iEl6w2YBI130_provenance.
- NP31268.RA5uEYOoT1DgscTLyAAUK66BZlz8NEZN4N68iEl6w2YBI130_assertion evidence source_evidence_curated NP31268.RA5uEYOoT1DgscTLyAAUK66BZlz8NEZN4N68iEl6w2YBI130_provenance.
- NP31268.RA5uEYOoT1DgscTLyAAUK66BZlz8NEZN4N68iEl6w2YBI130_assertion SIO_000772 18445049 NP31268.RA5uEYOoT1DgscTLyAAUK66BZlz8NEZN4N68iEl6w2YBI130_provenance.
- NP31268.RA5uEYOoT1DgscTLyAAUK66BZlz8NEZN4N68iEl6w2YBI130_assertion wasDerivedFrom ctd_human-20150221 NP31268.RA5uEYOoT1DgscTLyAAUK66BZlz8NEZN4N68iEl6w2YBI130_provenance.
- NP31268.RA5uEYOoT1DgscTLyAAUK66BZlz8NEZN4N68iEl6w2YBI130_assertion wasGeneratedBy ECO_0000218 NP31268.RA5uEYOoT1DgscTLyAAUK66BZlz8NEZN4N68iEl6w2YBI130_provenance.
- ctd_human-20150221 importedOn "2015-02-21" NP31268.RA5uEYOoT1DgscTLyAAUK66BZlz8NEZN4N68iEl6w2YBI130_provenance.