Orphanet Rare Disease Ontology

Last uploaded: December 13, 2023

Preferred Name	gap junction protein beta 2
Synonyms	CX26
ID	http://www.orpha.net/ORDO/Orphanet_122129
alternative_term	CX26 NSRD1 connexin 26
hasDbXref	Reactome:P29033 SwissProt:P29033 Genatlas:GJB2 Ensembl:ENSG00000165474 OMIM:121011 HGNC:4284 IUPHAR:716
label	gap junction protein beta 2
prefixIRI	ORDO:Orphanet_122129
prefLabel	gap junction protein beta 2
symbol	GJB2
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/OMIM/121011	OMIM	LOOM
	http://www.ncbi.nlm.nih.gov/gene/14619	NIFSTD	LOOM