Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

GAP JUNCTION PROTEIN, ALPHA-1

Synonyms

SYNDACTYLY, TYPE III

ID

http://purl.bioontology.org/ontology/OMIM/121014

altLabel

SYNDACTYLY, TYPE III

ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 3

OCULODENTODIGITAL DYSPLASIA, AUTOSOMAL RECESSIVE

CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL RECESSIVE

CX43

GJA1

HEART CONNEXIN

GAP JUNCTION PROTEIN, 43-KD

PALMOPLANTAR KERATODERMA AND CONGENITAL ALOPECIA 1

OCULODENTODIGITAL DYSPLASIA

CONNEXIN 43

cui

C0812437

C2749477

C2931244

C1861366

C1415068

C4479619

C4304669

Gene Locus

5q22.31

Gene Symbol

CMDR

EKVP3

HSS

ODOD

SDTY3

GJA1

ODDD

CX43

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/121014.0017

http://purl.bioontology.org/ontology/OMIM/121014.0016

http://purl.bioontology.org/ontology/OMIM/121014.0014

http://purl.bioontology.org/ontology/OMIM/121014.0010

http://purl.bioontology.org/ontology/OMIM/121014.0013

http://purl.bioontology.org/ontology/OMIM/121014.0018

http://purl.bioontology.org/ontology/OMIM/121014.0011

http://purl.bioontology.org/ontology/OMIM/121014.0015

http://purl.bioontology.org/ontology/OMIM/121014.0019

http://purl.bioontology.org/ontology/OMIM/121014.0024

http://purl.bioontology.org/ontology/OMIM/121014.0022

http://purl.bioontology.org/ontology/OMIM/121014.0020

http://purl.bioontology.org/ontology/OMIM/121014.0023

http://purl.bioontology.org/ontology/OMIM/121014.0025

http://purl.bioontology.org/ontology/OMIM/121014.0021

http://purl.bioontology.org/ontology/OMIM/121014.0003

http://purl.bioontology.org/ontology/OMIM/121014.0008

http://purl.bioontology.org/ontology/OMIM/121014.0009

http://purl.bioontology.org/ontology/OMIM/121014.0005

http://purl.bioontology.org/ontology/OMIM/121014.0006

http://purl.bioontology.org/ontology/OMIM/121014.0004

http://purl.bioontology.org/ontology/OMIM/121014.0007

MIMTYPEMEANING

Gene with known sequence

notation

121014

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

GAP JUNCTION PROTEIN, ALPHA-1

tui

T047

T019

T028

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