@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix orcid: <
http://orcid.org/
> .
@prefix this: <
http://rdf.disgenet.org/resource/nanopub/NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/resource/nanopub/
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/resource/gda/
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v3.0.0/void/
> .
dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_head
{
this:
np:hasAssertion
dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion
;
np:hasProvenance
dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance
;
np:hasPublicationInfo
dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion
a
np:Assertion
.
dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance
a
np:Provenance
.
dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion
{
miriam-gene:3892
a
ncit:C16612
.
lld:C0546966
a
ncit:C7057
.
dgn-gda:DGNe4fc7ae9fbe838cd9401f95f59be37a5
sio:SIO_000628
miriam-gene:3892
,
lld:C0546966
;
a
sio:SIO_001122
.
}
dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_provenance
{
dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_assertion
dcterms:description
"[Several cases of monilethrix have been linked to the type II keratin gene cluster on chromosome 12q13 and causative heterozygous mutations of a highly conserved glutamic acid residue (Glu 410 Lys and Glu 410 Asp) in the helix termination motif of the type II hair keratin hHb6 have recently been identified in monilethrix patients of two unrelated families.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_curated
;
sio:SIO_000772
miriam-pubmed:9402962
;
prov:wasDerivedFrom
dgn-void:uniprot-20150221
;
prov:wasGeneratedBy
eco:ECO_0000218
.
dgn-void:source_evidence_curated
a
eco:ECO_0000205
;
rdfs:comment
"Gene-disease associations manually curated."@en ;
rdfs:label
"DisGeNET evidence - CURATED"@en .
dgn-void:uniprot-20150221
pav:importedOn
"2015-02-21"^^
xsd:date
.
}
dgn-np:NP281.RAQSU76TidkEjXiC7GrtoG6vy_p8Kq3Tyish7ZJWvvMTA130_publicationInfo
{
this:
dcterms:created
"2015-08-25T14:37:42+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetv3.0rdf
;
pav:authoredBy
orcid:0000-0001-5999-6269
,
orcid:0000-0002-7534-7661
,
orcid:0000-0002-9383-528X
,
orcid:0000-0003-0169-8159
,
orcid:0000-0003-1244-7654
;
pav:createdBy
orcid:0000-0003-0169-8159
;
pav:version
"v3.0.0.0" .
dgn-void:disgenetv3.0rdf
pav:version
"v3.0.0" .
}