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Orphanet Rare Disease Ontology
Last uploaded:
December 4, 2024
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| Id | http://www.orpha.net/ORDO/Orphanet_122124
http://www.orpha.net/ORDO/Orphanet_122124
|
|---|---|
| Preferred Name | gap junction protein beta 1 |
| Synonyms |
CX32
connexin 32
Charcot-Marie-Tooth neuropathy, X-linked
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
gap junction protein beta 1
|
|---|---|
| prefLabel |
gap junction protein beta 1
|
| hasDbXref |
Ensembl:ENSG00000169562
Reactome:P08034
SwissProt:P08034
Genatlas:GJB1
ClinVar:GJB1
OMIM:304040
HGNC:4283
IUPHAR:723
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|
| alternative_term |
CX32
connexin 32
Charcot-Marie-Tooth neuropathy, X-linked
|
| prefixIRI |
ORDO:Orphanet_122124
|
| symbol |
GJB1
|
| subClassOf | |
| type |
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