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Basic Information
Gene Symbol
GJB3
Target ID
TCMT01838
Protein Name
gap junction protein beta 3
Synonyms
EKV, CX31, DFNA2, EKVP1, DFNA2B
Map Location
1p34.3
Type Of Gene
protein coding
Uniprot ID
O75712
Gene ID
2707
Ensembl ID
ENSG00000188910
HGNC ID
HGNC:4285
Related Diseases
ID
Disease
Source
TCMD17868
PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1
MalaCards;DisGeNET
TCMD18236
Patchy palmoplantar keratoderma
DisGeNET
TCMD18330
Pendred Syndrome
MalaCards
TCMD18481
Peripheral Neuropathy
DisGeNET
TCMD19332
Prelingual Deafness
DisGeNET
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