http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0#head
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0#assertion
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0#provenance
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0#assertion
http://rdf.disgenet.org/resource/gda/DGN2d0268a2f488b7daf37ea74e35beac2d
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/6768
http://rdf.disgenet.org/resource/gda/DGN2d0268a2f488b7daf37ea74e35beac2d
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C1835851
http://rdf.disgenet.org/resource/gda/DGN2d0268a2f488b7daf37ea74e35beac2d
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001121
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0#provenance
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0#assertion
http://purl.org/dc/terms/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.
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0#assertion
http://purl.org/ontology/wi/core#evidence
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/18445049
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/CTD_human
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000218
http://rdf.disgenet.org/v5.0.0/void/CTD_human
http://purl.org/pav/importedOn
2017-01-25
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://purl.obolibrary.org/obo/ECO_0000205
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#comment
Gene-disease associations manually curated.
http://rdf.disgenet.org/v5.0.0/void/source_evidence_curated
http://www.w3.org/2000/01/rdf-schema#label
DisGeNET evidence - CURATED
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0
http://purl.org/dc/terms/created
2017-10-17T13:16:27+02:00
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP983116.RApFOFPDB9n-62jklVuzyFc9wNrxI7-YhWbb0SRE8JXz0
http://purl.org/pav/version
v5.0.0.0
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://purl.org/pav/version
v5.0.0