Online Mendelian Inheritance in Man

Last uploaded: January 29, 2019
Preferred Name

GAP JUNCTION PROTEIN, BETA-2

Synonyms

DEAFNESS, DIGENIC, GJB2/GJB6

ID

http://purl.bioontology.org/ontology/OMIM/121011

altLabel

DEAFNESS, DIGENIC, GJB2/GJB6

GJB2

DEAFNESS, AUTOSOMAL DOMINANT 3A

RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE

GAP JUNCTION PROTEIN, 26-KD

HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS

KERATODERMA, PALMOPLANTAR, WITH DEAFNESS

VOHWINKEL SYNDROME

CONNEXIN 26

KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT

DEAFNESS, DIGENIC, GJB2/GJB3

CX26

KNUCKLE PADS, LEUKONYCHIA, AND SENSORINEURAL DEAFNESS

DEAFNESS, AUTOSOMAL RECESSIVE 1A

cui

C1835672

C1865234

C4015968

C2673760

C2675750

C1415077

C0265336

C0266004

C0265964

C2673761

C2673759

Gene Locus

13q11-q12

Gene Symbol

DFNB1A

HID

GJB2

PPK

DFNA3A

KID

CX26

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/121011.0024

http://purl.bioontology.org/ontology/OMIM/121011.0022

http://purl.bioontology.org/ontology/OMIM/121011.0004

http://purl.bioontology.org/ontology/OMIM/121011.0002

http://purl.bioontology.org/ontology/OMIM/121011.0016

http://purl.bioontology.org/ontology/OMIM/121011.0035

http://purl.bioontology.org/ontology/OMIM/121011.0015

http://purl.bioontology.org/ontology/OMIM/121011.0028

http://purl.bioontology.org/ontology/OMIM/121011.0042

http://purl.bioontology.org/ontology/OMIM/121011.0008

http://purl.bioontology.org/ontology/OMIM/121011.0029

http://purl.bioontology.org/ontology/OMIM/121011.0009

http://purl.bioontology.org/ontology/OMIM/121011.0036

http://purl.bioontology.org/ontology/OMIM/121011.0037

http://purl.bioontology.org/ontology/OMIM/121011.0017

http://purl.bioontology.org/ontology/OMIM/121011.0013

http://purl.bioontology.org/ontology/OMIM/121011.0040

http://purl.bioontology.org/ontology/OMIM/121011.0020

http://purl.bioontology.org/ontology/OMIM/121011.0005

http://purl.bioontology.org/ontology/OMIM/121011.0001

http://purl.bioontology.org/ontology/OMIM/121011.0032

http://purl.bioontology.org/ontology/OMIM/121011.0031

http://purl.bioontology.org/ontology/OMIM/121011.0012

http://purl.bioontology.org/ontology/OMIM/121011.0014

http://purl.bioontology.org/ontology/OMIM/121011.0033

http://purl.bioontology.org/ontology/OMIM/121011.0018

http://purl.bioontology.org/ontology/OMIM/121011.0034

http://purl.bioontology.org/ontology/OMIM/121011.0025

http://purl.bioontology.org/ontology/OMIM/121011.0026

http://purl.bioontology.org/ontology/OMIM/121011.0006

http://purl.bioontology.org/ontology/OMIM/121011.0038

http://purl.bioontology.org/ontology/OMIM/121011.0007

http://purl.bioontology.org/ontology/OMIM/121011.0039

http://purl.bioontology.org/ontology/OMIM/121011.0019

http://purl.bioontology.org/ontology/OMIM/121011.0027

http://purl.bioontology.org/ontology/OMIM/121011.0010

http://purl.bioontology.org/ontology/OMIM/121011.0011

http://purl.bioontology.org/ontology/OMIM/121011.0030

http://purl.bioontology.org/ontology/OMIM/121011.0041

http://purl.bioontology.org/ontology/OMIM/121011.0021

http://purl.bioontology.org/ontology/OMIM/121011.0023

http://purl.bioontology.org/ontology/OMIM/121011.0003

MIMTYPEMEANING

Gene with known sequence

notation

121011

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

GAP JUNCTION PROTEIN, BETA-2

tui

T028

T019

T033

T047

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