Online Mendelian Inheritance in Man - GAP JUNCTION PROTEIN, BETA-1 - Classes | NCBO BioPortal

Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024

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Preferred Name	GAP JUNCTION PROTEIN, BETA-1
Synonyms	GJB1 CX32 DEJERINE-SOTTAS NEUROPATHY CONNEXIN 32 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 LIVER CONNEXIN GAP JUNCTION PROTEIN, 32-KD
ID	http://purl.bioontology.org/ontology/OMIM/304040
altLabel	GJB1 CX32 DEJERINE-SOTTAS NEUROPATHY CONNEXIN 32 CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1 LIVER CONNEXIN GAP JUNCTION PROTEIN, 32-KD
cui	C0011195 C1415076 C0393808
Gene Locus	Xq13.1
Gene Symbol	CMTX1 CX32 GJB1
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/304040.0001 http://purl.bioontology.org/ontology/OMIM/304040.0004 http://purl.bioontology.org/ontology/OMIM/304040.0009 http://purl.bioontology.org/ontology/OMIM/304040.0008 http://purl.bioontology.org/ontology/OMIM/304040.0002 http://purl.bioontology.org/ontology/OMIM/304040.0007 http://purl.bioontology.org/ontology/OMIM/304040.0006 http://purl.bioontology.org/ontology/OMIM/304040.0005 http://purl.bioontology.org/ontology/OMIM/304040.0003 http://purl.bioontology.org/ontology/OMIM/304040.0020 http://purl.bioontology.org/ontology/OMIM/304040.0022 http://purl.bioontology.org/ontology/OMIM/304040.0021 http://purl.bioontology.org/ontology/OMIM/304040.0011 http://purl.bioontology.org/ontology/OMIM/304040.0013 http://purl.bioontology.org/ontology/OMIM/304040.0017 http://purl.bioontology.org/ontology/OMIM/304040.0012 http://purl.bioontology.org/ontology/OMIM/304040.0015 http://purl.bioontology.org/ontology/OMIM/304040.0018 http://purl.bioontology.org/ontology/OMIM/304040.0010 http://purl.bioontology.org/ontology/OMIM/304040.0016 http://purl.bioontology.org/ontology/OMIM/304040.0014 http://purl.bioontology.org/ontology/OMIM/304040.0019
MIMTYPEMEANING	Gene with known sequence
notation	304040
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	GAP JUNCTION PROTEIN, BETA-1
tui	T047 T028

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Delete	Mapping To	Ontology	Source
	http://purl.bioontology.org/ontology/SNMI/DA-44010	SNMI	CUI
	http://purl.bioontology.org/ontology/MESH/D000097002	MESH	CUI
	http://purl.bioontology.org/ontology/SCTSPA/763455008	SCTSPA	CUI
	http://purl.bioontology.org/ontology/SCTSPA/111499002	SCTSPA	CUI
	http://purl.bioontology.org/ontology/RCD/F3600	RCD	CUI
	http://purl.bioontology.org/ontology/CSP/2042-7637	CRISP	CUI
	http://purl.bioontology.org/ontology/MESH/D015417	MESH	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/111499002	SNOMEDCT	CUI
	http://purl.bioontology.org/ontology/ICD10CM/G60.0	ICD10CM	CUI
	http://purl.bioontology.org/ontology/MSHFRE/D015417	MSHFRE	CUI
	http://purl.bioontology.org/ontology/MSHFRE/D000097002	MSHFRE	CUI
	http://purl.bioontology.org/ontology/LNC/LP32672-5	LOINC	CUI
	http://purl.bioontology.org/ontology/MESH/C535919	MESH	CUI
	http://purl.bioontology.org/ontology/SNOMEDCT/763455008	SNOMEDCT	CUI
	http://www.orpha.net/ORDO/Orphanet_122124	ORDO	LOOM