(Q18025986)

English

GJB1

protein-coding gene in the species Homo sapiens

CMTX
CMTX1
CX32
gap junction protein beta 1

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No description defined

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Statements

1 reference

1 reference

1 reference

Gap junction protein beta 1

1 reference

6 July 2017

Charcot–Marie–Tooth disease

0 references

Charcot-Marie-Tooth disease X-linked dominant 1

1 reference

stated in

Open _targets Platform

retrieved

24 August 2023

reference URL

https://platform.open_targets.org/evidence/ENSG00000169562/Orphanet_101075

based on heuristic

inferred from an Open _targets association score over 0.7

chromosome

human X chromosome

genomic assembly

genome assembly GRCh38

Genome assembly GRCh37

1 reference

genome assembly GRCh38

Genome assembly GRCh37

1 reference

70435044

Genome assembly GRCh37

1 reference

71212811

genome assembly GRCh38

1 reference

70445366

Genome assembly GRCh37

1 reference

71225516

genome assembly GRCh38

1 reference

Xq13.1

1 reference

15 May 2022

137

1 reference

15 May 2022

PBB GE GJB1 204973 at fs.png
732 × 530; 11 KB

0 references

2 references

137

https://omabrowser.org/oma/vps/P08034/

2 references

137

https://omabrowser.org/oma/vps/P08034/

1 reference

137

1

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169562

C1 segment

series ordinal

2

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169562

body of pancreas

series ordinal

3

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169562

mucosa of transverse colon

series ordinal

4

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169562

inferior ganglion of vagus nerve

series ordinal

5

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169562

gallbladder

series ordinal

6

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169562

olfactory bulb

series ordinal

7

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169562

subthalamic nucleus

series ordinal

8

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169562

substantia nigra

series ordinal

9

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169562

inferior olivary nucleus

series ordinal

10

1 reference

7 June 2024

https://www.bgee.org/gene/ENSG00000169562

exact match

http://identifiers.org/ncbigene/2705

1 reference

stated in

Identifiers.org

reference URL

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000069

Identifiers

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Ensembl transcript ID

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

1 reference

0 references

1 reference

15 May 2022

1 reference

15 May 2022

1 reference

Online Mendelian Inheritance in Man

19 August 2019

1 reference

26 January 2022

https://docs.openalex.org/download-snapshot/snapshot-data-format

UMLS CUI

C1415076

1 reference

based on heuristic

inferred by common HGNC mappings on source and on Wikidata

stated in

UMLS 2023

retrieved

15 June 2023

Sitelinks

Wikipedia(3 entries)

bswiki GJB1
enwiki GJB1
ukwiki GJB1

(Q18025986)

GJB1

Statements

Identifiers

Sitelinks

Wikipedia(3 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)