Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

GAP JUNCTION PROTEIN, BETA-1

Synonyms

DEJERINE-SOTTAS NEUROPATHY

ID

http://purl.bioontology.org/ontology/OMIM/304040

altLabel

DEJERINE-SOTTAS NEUROPATHY

CHARCOT-MARIE-TOOTH DISEASE, X-LINKED DOMINANT, 1

CX32

CONNEXIN 32

GJB1

GAP JUNCTION PROTEIN, 32-KD

LIVER CONNEXIN

cui

C1415076

C0011195

C0393808

Gene Locus

Xq13.1

Gene Symbol

CX32

CMTX1

GJB1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/304040.0003

http://purl.bioontology.org/ontology/OMIM/304040.0007

http://purl.bioontology.org/ontology/OMIM/304040.0009

http://purl.bioontology.org/ontology/OMIM/304040.0016

http://purl.bioontology.org/ontology/OMIM/304040.0008

http://purl.bioontology.org/ontology/OMIM/304040.0011

http://purl.bioontology.org/ontology/OMIM/304040.0004

http://purl.bioontology.org/ontology/OMIM/304040.0020

http://purl.bioontology.org/ontology/OMIM/304040.0012

http://purl.bioontology.org/ontology/OMIM/304040.0013

http://purl.bioontology.org/ontology/OMIM/304040.0006

http://purl.bioontology.org/ontology/OMIM/304040.0005

http://purl.bioontology.org/ontology/OMIM/304040.0017

http://purl.bioontology.org/ontology/OMIM/304040.0019

http://purl.bioontology.org/ontology/OMIM/304040.0018

http://purl.bioontology.org/ontology/OMIM/304040.0010

http://purl.bioontology.org/ontology/OMIM/304040.0022

http://purl.bioontology.org/ontology/OMIM/304040.0021

http://purl.bioontology.org/ontology/OMIM/304040.0002

http://purl.bioontology.org/ontology/OMIM/304040.0001

http://purl.bioontology.org/ontology/OMIM/304040.0014

http://purl.bioontology.org/ontology/OMIM/304040.0015

MIMTYPEMEANING

Gene with known sequence

notation

304040

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

GAP JUNCTION PROTEIN, BETA-1

tui

T028

T047

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/D015417 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/LNC/LP32672-5 Logical Observation Identifier Names and Codes CUI
http://purl.bioontology.org/ontology/MESH/C535919 Medical Subject Headings CUI
http://purl.bioontology.org/ontology/ICD10CM/G60.0 International Classification of Diseases, Version 10 - Clinical Modification CUI