Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
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Preferred Name

GATA-BINDING PROTEIN 6
Synonyms

HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES
ID

http://purl.bioontology.org/ontology/OMIM/601656
altLabel

HEART DEFECTS, CONGENITAL, AND OTHER CONGENITAL ANOMALIES

PERSISTENT TRUNCUS ARTERIOSUS

ATRIOVENTRICULAR SEPTAL DEFECT 5

GATA6

TETRALOGY OF FALLOT

ATRIAL SEPTAL DEFECT 9
cui

C0041207

C1414996

C3280939

C0039685

C4012454

C3280943
Gene Locus

18q11.1-q11.2
Gene Symbol

AVSD5

ASD9

PACHD

GATA6
Has allelic variant

http://purl.bioontology.org/ontology/OMIM/601656.0005

http://purl.bioontology.org/ontology/OMIM/601656.0008

http://purl.bioontology.org/ontology/OMIM/601656.0001

http://purl.bioontology.org/ontology/OMIM/601656.0004

http://purl.bioontology.org/ontology/OMIM/601656.0003

http://purl.bioontology.org/ontology/OMIM/601656.0007

http://purl.bioontology.org/ontology/OMIM/601656.0006

http://purl.bioontology.org/ontology/OMIM/601656.0002

http://purl.bioontology.org/ontology/OMIM/601656.0009

http://purl.bioontology.org/ontology/OMIM/601656.0014

http://purl.bioontology.org/ontology/OMIM/601656.0013

http://purl.bioontology.org/ontology/OMIM/601656.0011

http://purl.bioontology.org/ontology/OMIM/601656.0010

http://purl.bioontology.org/ontology/OMIM/601656.0012
MIMTYPEMEANING

Gene with known sequence
notation

601656
OMIM Entry Type

1
OMIM MimType Value

star
prefLabel

GATA-BINDING PROTEIN 6
tui

T047

T019

T028
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Delete Mapping To Ontology Source
http://purl.bioontology.org/ontology/SCTSPA/787779000 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10059207 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q20.0 ICD10CM CUI
http://purl.bioontology.org/ontology/SNMI/D4-31400 SNMI CUI
http://purl.bioontology.org/ontology/MDRFRE/10059207 MDRFRE CUI
http://purl.bioontology.org/ontology/MDRFRE/10044703 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000003024 NDFRT CUI
http://purl.bioontology.org/ontology/MDRGER/10059207 MDRGER CUI
http://purl.bioontology.org/ontology/SCTSPA/61959006 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10044703 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10044703 MDRGER CUI
http://purl.bioontology.org/ontology/SNOMEDCT/61959006 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MESH/D014339 MESH CUI
http://purl.bioontology.org/ontology/MSHFRE/D014339 MSHFRE CUI
http://purl.bioontology.org/ontology/SNOMEDCT/787779000 SNOMEDCT CUI
http://purl.bioontology.org/ontology/ICD9CM/745.0 ICD9CM CUI
http://purl.bioontology.org/ontology/RCD/XaC2P RCD CUI
http://purl.bioontology.org/ontology/ICD10/Q20.0 ICD10 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_20796 HRDO LOOM
http://www.orpha.net/ORDO/Orphanet_291853 ORDO LOOM