Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Presenilin 1
Synonyms	AD3
ID	http://www.limics.org/hrdo/rdfns#gen_id_15160
altLabel	AD3 S182 PS1 FAD
geneSymbol	PSEN1
id_Ensembl	ENSG00000080815
id_Genatlas	PSEN1
id_HGNC	9508
id_MIM	104311
id_Reactome	P49768
id_SwissProt	P49768
prefixIRI	hrdo:gen_id_15160
prefLabel	Presenilin 1
subClassOf	http://www.limics.org/hrdo/rdfns#gen_id_1

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C95117	NCIT	LOOM
http://purl.jp/bio/4/id/200906041793701653	IOBC	LOOM
http://purl.obolibrary.org/obo/MESH_D053764	BERO	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D053764	RH-MESH	LOOM
http://purl.obolibrary.org/obo/PR_000013344	PR	LOOM
http://purl.obolibrary.org/obo/PR_000013344	NIFSTD	LOOM
http://www.orpha.net/ORDO/Orphanet_118099	ORDO	LOOM
http://purl.bioontology.org/ontology/MESH/D053764	MESH	LOOM
http://purl.obolibrary.org/obo/NCIT_C95117	BERO	LOOM
http://purl.bioontology.org/ontology/OMIM/104311	OMIM	LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.543.696.500	RH-MESH	LOOM
http://www.phoc.org.cn/pmo/class/PMO_00023526	PMAPP-PMO	LOOM
http://id.nlm.nih.gov/mesh/D053764	MDM	LOOM
http://purl.obolibrary.org/obo/IMR_0100731	HOIP	LOOM
http://purl.obolibrary.org/obo/IMR_0100731	TXPO	LOOM
http://doe-generated-ontology.com/OntoAD#C0299212	ONTOAD	LOOM
http://www.ncbi.nlm.nih.gov/gene/19164	NIFSTD	LOOM
http://purl.obolibrary.org/obo/OMIT_0025573	OMIT	LOOM