Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

GATA-BINDING PROTEIN 4
Synonyms

GATA4

ATRIOVENTRICULAR SEPTAL DEFECT 4

ATRIAL SEPTAL DEFECT 2

VENTRICULAR SEPTAL DEFECT 1

TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE

TETRALOGY OF FALLOT
ID

http://purl.bioontology.org/ontology/OMIM/600576
altLabel

GATA4

ATRIOVENTRICULAR SEPTAL DEFECT 4

ATRIAL SEPTAL DEFECT 2

VENTRICULAR SEPTAL DEFECT 1

TESTICULAR ANOMALIES WITH OR WITHOUT CONGENITAL HEART DISEASE

TETRALOGY OF FALLOT
cui

C1842778

C3280777

C0039685

C3280781

C3809858

C1414995
Gene Locus

8p23.1-p22
Gene Symbol

VSD1

GATA4

ASD2

TACHD

TOF
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/600576.0013

http://purl.bioontology.org/ontology/OMIM/600576.0018

http://purl.bioontology.org/ontology/OMIM/600576.0011

http://purl.bioontology.org/ontology/OMIM/600576.0016

http://purl.bioontology.org/ontology/OMIM/600576.0015

http://purl.bioontology.org/ontology/OMIM/600576.0014

http://purl.bioontology.org/ontology/OMIM/600576.0017

http://purl.bioontology.org/ontology/OMIM/600576.0010

http://purl.bioontology.org/ontology/OMIM/600576.0012

http://purl.bioontology.org/ontology/OMIM/600576.0009

http://purl.bioontology.org/ontology/OMIM/600576.0003

http://purl.bioontology.org/ontology/OMIM/600576.0005

http://purl.bioontology.org/ontology/OMIM/600576.0004

http://purl.bioontology.org/ontology/OMIM/600576.0001

http://purl.bioontology.org/ontology/OMIM/600576.0007

http://purl.bioontology.org/ontology/OMIM/600576.0006

http://purl.bioontology.org/ontology/OMIM/600576.0008

http://purl.bioontology.org/ontology/OMIM/600576.0002
MIMTYPEMEANING

Gene with known sequence
notation

600576
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

GATA-BINDING PROTEIN 4
tui

T047

T019

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/MESH/C538263 MESH CUI
http://purl.bioontology.org/ontology/MEDDRA/10016193 MEDDRA CUI
http://purl.bioontology.org/ontology/SNOMEDCT/86299006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/SCTSPA/86299006 SCTSPA CUI
http://purl.bioontology.org/ontology/ICD10/Q21.3 ICD10 CUI
http://purl.bioontology.org/ontology/RCD/P52.. RCD CUI
http://purl.bioontology.org/ontology/CSP/0724-9541 CRISP CUI
http://purl.bioontology.org/ontology/MDRFRE/10016192 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRGER/10016193 MDRGER CUI
http://purl.bioontology.org/ontology/MEDDRA/10016191 MEDDRA CUI
http://purl.bioontology.org/ontology/MEDDRA/10043384 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10043384 MDRGER CUI
http://purl.bioontology.org/ontology/MDRGER/10016192 MDRGER CUI
http://purl.bioontology.org/ontology/MESH/D013771 MESH CUI
http://purl.bioontology.org/ontology/LNC/LA19623-0 LOINC CUI
http://purl.bioontology.org/ontology/MDRGER/10016191 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10016193 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000002917 NDFRT CUI
http://purl.bioontology.org/ontology/MDRFRE/10016191 MDRFRE CUI
http://purl.bioontology.org/ontology/CST/TETRAL%20FALLOT COSTART CUI
http://purl.bioontology.org/ontology/MDRFRE/10043384 MDRFRE CUI
http://purl.bioontology.org/ontology/ICPC2P/K73013 ICPC2P CUI
http://purl.bioontology.org/ontology/ICD9CM/745.2 ICD9CM CUI
http://purl.bioontology.org/ontology/MSHFRE/D013771 MSHFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10016192 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q21.3 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/D4-31110 SNMI CUI
http://www.limics.org/hrdo/rdfns#gen_id_16104 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_122035 ORDO LOOM