loading...| Preferred Name |
GAP JUNCTION PROTEIN, BETA-3 |
|
| Synonyms |
DEAFNESS, AUTOSOMAL RECESSIVE |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/603324 |
|
| altLabel |
DEAFNESS, AUTOSOMAL RECESSIVE ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 1 CX31 GAP JUNCTION PROTEIN, 31-KD DEAFNESS, AUTOSOMAL DOMINANT 2B DEAFNESS, AUTOSOMAL DOMINANT, WITH PERIPHERAL NEUROPATHY DEAFNESS, DIGENIC, GJB2/GJB3 GJB3 CONNEXIN 31 |
|
| cui |
C2675236 C4551486 C1415078 C1846647 C2673761 C3148751 |
|
| Gene Locus |
1p35.1 |
|
| Gene Symbol |
EKVP1 CX31 GJB3 DFNA2B |
|
| Has allelic variant |
http://purl.bioontology.org/ontology/OMIM/603324.0010 http://purl.bioontology.org/ontology/OMIM/603324.0012 http://purl.bioontology.org/ontology/OMIM/603324.0011 http://purl.bioontology.org/ontology/OMIM/603324.0008 http://purl.bioontology.org/ontology/OMIM/603324.0005 http://purl.bioontology.org/ontology/OMIM/603324.0006 http://purl.bioontology.org/ontology/OMIM/603324.0004 http://purl.bioontology.org/ontology/OMIM/603324.0002 http://purl.bioontology.org/ontology/OMIM/603324.0001 http://purl.bioontology.org/ontology/OMIM/603324.0007 |
|
| MIMTYPEMEANING |
Gene with known sequence and phenotype |
|
| notation |
603324 |
|
| OMIM Entry Type |
4 |
|
| OMIM MimType Value |
plus |
|
| prefLabel |
GAP JUNCTION PROTEIN, BETA-3 |
|
| tui |
T047 T028 |