Disease core ontology applied to Rare Diseases

Last uploaded: February 7, 2014

Preferred Name	Gap junction protein, beta 6
Synonyms	DFNA3 EDH HED ED2 CX30
ID	http://www.limics.org/hrdo/rdfns#gen_id_16133
altLabel	DFNA3 EDH HED ED2 CX30
geneSymbol	GJB6
id_Ensembl	ENSG00000121742
id_Genatlas	GJB6
id_HGNC	4288
id_MIM	604418
id_Reactome	O95452
id_SwissProt	O95452
prefixIRI	hrdo:gen_id_16133
prefLabel	Gap junction protein, beta 6
subClassOf	http://www.limics.org/hrdo/rdfns#gen_id_1

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.orpha.net/ORDO/Orphanet_122142	ORDO	LOOM
http://www.ncbi.nlm.nih.gov/gene/14623	NIFSTD	LOOM
http://purl.bioontology.org/ontology/OMIM/604418	OMIM	LOOM