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Online Mendelian Inheritance in Man
Last uploaded:
January 16, 2025
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| Id | http://purl.bioontology.org/ontology/OMIM/603324
http://purl.bioontology.org/ontology/OMIM/603324
|
|---|---|
| Preferred Name | GAP JUNCTION PROTEIN, BETA-3 |
| Synonyms |
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
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
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
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|
|---|---|
| prefLabel |
GAP JUNCTION PROTEIN, BETA-3
|
| Gene Symbol |
EKVP1
CX31
GJB3
DFNA2B
|
| notation |
603324
|
| Has allelic variant |
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|
| OMIM MimType Value |
star
|
| Semantic type UMLS property | |
| OMIM Entry Type |
1
|
| type | |
| MIMTYPEMEANING |
Gene with known sequence
|
| Gene Locus |
1p35.1
|
| Phenotype of |
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|
| tui |
T047
T028
|
| cui |
C2675236
C4551486
C1415078
C2673761
C3148751
|
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