Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Nibrin
Synonyms	AT-V1 AT-V2 NBS ATV NBS1
ID	http://www.limics.org/hrdo/rdfns#gen_id_16518
altLabel	AT-V1 AT-V2 NBS ATV NBS1
geneSymbol	NBN
id_Ensembl	ENSG00000104320
id_Genatlas	NBN
id_HGNC	7652
id_MIM	602667
id_Reactome	O60934
id_SwissProt	O60934
prefixIRI	hrdo:gen_id_16518
prefLabel	Nibrin
subClassOf	http://www.limics.org/hrdo/rdfns#gen_id_1

Delete	Subject	Author	Type	Created
No notes to display

Mapping To	Ontology	Source
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C21171	NCIT	LOOM
http://purl.obolibrary.org/obo/PR_000011014	PR	LOOM
http://purl.obolibrary.org/obo/PR_000011014	EFO	LOOM
http://purl.obolibrary.org/obo/PR_000011014	NIFSTD	LOOM
http://purl.obolibrary.org/obo/PR_000011014	OBA	LOOM
http://www.orpha.net/ORDO/Orphanet_123688	ORDO	LOOM
http://purl.bioontology.org/ontology/OMIM/602667	OMIM	LOOM
http://purl.obolibrary.org/obo/NCIT_C21171	BERO	LOOM