Orphanet Rare Disease Ontology

Last uploaded: July 3, 2024

Preferred Name	gap junction protein beta 6
Synonyms	connexin 30 EDH HED CX30
ID	http://www.orpha.net/ORDO/Orphanet_122142
alternative_term	connexin 30 EDH HED CX30
hasDbXref	OMIM:604418 ClinVar:GJB6 Ensembl:ENSG00000121742 Reactome:O95452 SwissProt:O95452 Genatlas:GJB6 HGNC:4288 IUPHAR:717
label	gap junction protein beta 6
prefixIRI	ORDO:Orphanet_122142
prefLabel	gap junction protein beta 6
symbol	GJB6
subClassOf	http://www.orpha.net/ORDO/Orphanet_410298

Delete	Subject	Author	Type	Created
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Mapping To	Ontology	Source
http://www.limics.org/hrdo/rdfns#gen_id_16133	HRDO	LOOM
http://www.ncbi.nlm.nih.gov/gene/14623	NIFSTD	LOOM
http://purl.bioontology.org/ontology/OMIM/604418	OMIM	LOOM