Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

GAP JUNCTION PROTEIN, BETA-2

Synonyms

KERATODERMA, PALMOPLANTAR, WITH DEAFNESS

ID

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

altLabel

KERATODERMA, PALMOPLANTAR, WITH DEAFNESS

DEAFNESS, AUTOSOMAL RECESSIVE 1A

GJB2

KERATITIS-ICHTHYOSIS-DEAFNESS SYNDROME, AUTOSOMAL DOMINANT

BART-PUMPHREY SYNDROME

GAP JUNCTION PROTEIN, 26-KD

DEAFNESS, DIGENIC, GJB2/GJB6

CX26

VOHWINKEL SYNDROME

DEAFNESS, DIGENIC, GJB2/GJB3

CONNEXIN 26

DEAFNESS, AUTOSOMAL DOMINANT 3A

HYSTRIX-LIKE ICHTHYOSIS WITH DEAFNESS

cui

C2675750

C2673759

C1865234

C2673760

C0265964

C1835672

C1415077

C2673761

C0265336

C0266004

Gene Locus

13q11-q12

Gene Symbol

GJB2

BAPS

PPK

DFNA3A

CX26

HID

KID

DFNB1A

Has allelic variant

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

MIMTYPEMEANING

Gene with known sequence

notation

121011

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

GAP JUNCTION PROTEIN, BETA-2

tui

T047

T019

T028

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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C567277 MESH CUI
http://purl.bioontology.org/ontology/MESH/C567134 MESH CUI
http://purl.bioontology.org/ontology/MESH/C566528 MESH CUI
http://purl.bioontology.org/ontology/MESH/C567134 MESH CUI
http://purl.bioontology.org/ontology/RCD/X50Ib RCD CUI
http://purl.bioontology.org/ontology/SCTSPA/722203001 SCTSPA CUI
http://purl.bioontology.org/ontology/LNC/LP33150-1 LOINC CUI
http://purl.bioontology.org/ontology/MESH/C567134 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/2625009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/1271009 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SNMI/D4-40136 SNMI CUI
http://purl.bioontology.org/ontology/SNOMEDCT/24559001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/24559001 SCTSPA CUI
http://purl.bioontology.org/ontology/MESH/C536457 MESH CUI
http://purl.bioontology.org/ontology/SNOMEDCT/722203001 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/C536152 MESH CUI
http://purl.bioontology.org/ontology/MESH/C536168 MESH CUI
http://purl.bioontology.org/ontology/SNMI/D4-01135 SNMI CUI
http://purl.bioontology.org/ontology/SCTSPA/2625009 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X50IK RCD CUI
http://purl.bioontology.org/ontology/MESH/C537210 MESH CUI
http://purl.bioontology.org/ontology/SCTSPA/1271009 SCTSPA CUI
http://purl.bioontology.org/ontology/RCD/X50Ir RCD CUI
http://purl.bioontology.org/ontology/SNMI/D4-41410 SNMI CUI
http://www.orpha.net/ORDO/Orphanet_122129 ORDO LOOM
http://www.ncbi.nlm.nih.gov/gene/14619 NIFSTD LOOM