Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019

Preferred Name	GAP JUNCTION PROTEIN, BETA-6
Synonyms	CX30
ID	http://purl.bioontology.org/ontology/OMIM/604418
altLabel	CX30 DEAFNESS, DIGENIC, GJB2/GJB6 ECTODERMAL DYSPLASIA, HIDROTIC GJB6 CONNEXIN 30 DEAFNESS, AUTOSOMAL DOMINANT 3B (1 family) ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE DEAFNESS, AUTOSOMAL RECESSIVE 1B
cui	C1415081 C2675235 C0162361 C2673760 C4016886
Gene Locus	13q12
Gene Symbol	DFNB1B CX30 DFNA3B HED2 ECTD2 GJB6
Has allelic variant	http://purl.bioontology.org/ontology/OMIM/604418.0005 http://purl.bioontology.org/ontology/OMIM/604418.0003 http://purl.bioontology.org/ontology/OMIM/604418.0004 http://purl.bioontology.org/ontology/OMIM/604418.0001 http://purl.bioontology.org/ontology/OMIM/604418.0006 http://purl.bioontology.org/ontology/OMIM/604418.0002
MIMTYPEMEANING	Gene with known sequence
notation	604418
OMIM Entry Type	1
OMIM MimType Value	star
prefLabel	GAP JUNCTION PROTEIN, BETA-6
tui	T028 T033 T047

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Mapping To	Ontology	Source
http://purl.bioontology.org/ontology/MESH/C567134	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/MESH/D004476	Medical Subject Headings	CUI
http://purl.bioontology.org/ontology/LNC/LP31866-4	Logical Observation Identifier Names and Codes	CUI
http://purl.bioontology.org/ontology/MESH/C567213	Medical Subject Headings	CUI