http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ#head
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ
http://www.nanopub.org/nschema#hasAssertion
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ#assertion
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ
http://www.nanopub.org/nschema#hasProvenance
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ#provenance
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ
http://www.nanopub.org/nschema#hasPublicationInfo
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://www.nanopub.org/nschema#Nanopublication
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ#assertion
http://rdf.disgenet.org/resource/gda/DGN0b0cf9db9591e86ee511eed2a745efcc
http://semanticscience.org/resource/SIO_000628
http://identifiers.org/ncbigene/4976
http://rdf.disgenet.org/resource/gda/DGN0b0cf9db9591e86ee511eed2a745efcc
http://semanticscience.org/resource/SIO_000628
http://linkedlifedata.com/resource/umls/id/C0338508
http://rdf.disgenet.org/resource/gda/DGN0b0cf9db9591e86ee511eed2a745efcc
http://www.w3.org/1999/02/22-rdf-syntax-ns#type
http://semanticscience.org/resource/SIO_001122
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ#provenance
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ#assertion
http://purl.org/dc/terms/description
[Autosomal dominant optic atrophy (ADOA, OMIM 165500), an inherited optic neuropathy that leads to retinal ganglion cell degeneration and reduced visual acuity during the early decades of life, is mainly associated with mutations in the OPA1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ#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/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ#assertion
http://semanticscience.org/resource/SIO_000772
http://identifiers.org/pubmed/19325939
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ#assertion
http://www.w3.org/ns/prov#wasDerivedFrom
http://rdf.disgenet.org/v5.0.0/void/UNIPROT
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ#assertion
http://www.w3.org/ns/prov#wasGeneratedBy
http://purl.obolibrary.org/obo/ECO_0000218
http://rdf.disgenet.org/v5.0.0/void/UNIPROT
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/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ#publicationInfo
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ
http://purl.org/dc/terms/created
2017-10-17T13:15:07+02:00
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ
http://purl.org/dc/terms/rights
http://opendatacommons.org/licenses/odbl/1.0/
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ
http://purl.org/dc/terms/rightsHolder
http://rdf.disgenet.org/v5.0.0/void/IBIGroup
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ
http://purl.org/dc/terms/subject
http://semanticscience.org/resource/SIO_000983
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ
http://purl.org/net/provenance/ns#usedData
http://rdf.disgenet.org/v5.0.0/void/disgenetv3.0rdf
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0001-5999-6269
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-7534-7661
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0002-9383-528X
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ
http://purl.org/pav/authoredBy
http://orcid.org/0000-0003-1244-7654
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ
http://purl.org/pav/createdBy
http://orcid.org/0000-0003-0169-8159
http://rdf.disgenet.org/resource/nanopub/NP775895.RApEMKnFqYHwDKIHRZNZ3bq0hdSE8TjDSVnZsyRhAbYXQ
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