loading...| Preferred Name | GAP JUNCTION PROTEIN, BETA-6 | |
| Synonyms |
DEAFNESS, AUTOSOMAL DOMINANT 3B CONNEXIN 30 ECTODERMAL DYSPLASIA, HIDROTIC ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE DEAFNESS, DIGENIC, GJB2/GJB6 DEAFNESS, AUTOSOMAL RECESSIVE 1B CX30 GJB6 |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/604418 |
|
| altLabel |
DEAFNESS, AUTOSOMAL DOMINANT 3B CONNEXIN 30 ECTODERMAL DYSPLASIA, HIDROTIC ECTODERMAL DYSPLASIA 2, CLOUSTON TYPE DEAFNESS, DIGENIC, GJB2/GJB6 DEAFNESS, AUTOSOMAL RECESSIVE 1B CX30 GJB6 |
|
| cui |
C1415081 C2673760 C0162361 C2675235 C2675237 |
|
| Gene Locus |
13q12 |
|
| Gene Symbol |
CX30 DFNA3B HED2 GJB6 DFNB1B ECTD2 |
|
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/604418.0002 http://purl.bioontology.org/ontology/OMIM/604418.0003 http://purl.bioontology.org/ontology/OMIM/604418.0005 http://purl.bioontology.org/ontology/OMIM/604418.0004 |
|
| MIMTYPEMEANING |
Gene with known sequence |
|
| notation |
604418 |
|
| OMIM Entry Type |
1 |
|
| OMIM MimType Value |
star |
|
| prefLabel |
GAP JUNCTION PROTEIN, BETA-6 |
|
| tui |
T047 T028 |