Online Mendelian Inheritance in Man

Last uploaded: August 28, 2024
Preferred Name

TRANSFORMING GROWTH FACTOR, BETA-1
Synonyms

TGFB1

CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF

INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY

CAMURATI-ENGELMANN DISEASE

TGFB

BREAST CANCER, INVASIVE, SUSCEPTIBILITY TO

TGF-BETA

ID

http://purl.bioontology.org/ontology/OMIM/190180

altLabel

TGFB1

CYSTIC FIBROSIS LUNG DISEASE, MODIFIER OF

INFLAMMATORY BOWEL DISEASE, IMMUNODEFICIENCY, AND ENCEPHALOPATHY

CAMURATI-ENGELMANN DISEASE

TGFB

BREAST CANCER, INVASIVE, SUSCEPTIBILITY TO

TGF-BETA

cui

C1366557

C1968974

C4748708

C4016407

C0011989

Gene Locus

19q13.1

Gene Symbol

CED

IBDIMDE

DPD1

TGFB1

Has allelic variant

http://purl.bioontology.org/ontology/OMIM/190180.0002

http://purl.bioontology.org/ontology/OMIM/190180.0001

http://purl.bioontology.org/ontology/OMIM/190180.0009

http://purl.bioontology.org/ontology/OMIM/190180.0005

http://purl.bioontology.org/ontology/OMIM/190180.0004

http://purl.bioontology.org/ontology/OMIM/190180.0006

http://purl.bioontology.org/ontology/OMIM/190180.0007

http://purl.bioontology.org/ontology/OMIM/190180.0008

http://purl.bioontology.org/ontology/OMIM/190180.0003

http://purl.bioontology.org/ontology/OMIM/190180.0010

MIMTYPEMEANING

Gene with known sequence

notation

190180

OMIM Entry Type

1

OMIM MimType Value

star

prefLabel

TRANSFORMING GROWTH FACTOR, BETA-1

tui

T047

T033

T028

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Mapping To Ontology Source
http://purl.bioontology.org/ontology/ICD10/Q78.3 ICD10 CUI
http://purl.bioontology.org/ontology/MDRGER/10088278 MDRGER CUI
http://purl.bioontology.org/ontology/SNMI/D4-00A70 SNMI CUI
http://purl.bioontology.org/ontology/RCD/X70BJ RCD CUI
http://purl.bioontology.org/ontology/MDRGER/10087147 MDRGER CUI
http://purl.bioontology.org/ontology/MDRFRE/10087147 MDRFRE CUI
http://purl.bioontology.org/ontology/RCD/PG58. RCD CUI
http://purl.bioontology.org/ontology/MEDDRA/10087147 MEDDRA CUI
http://purl.bioontology.org/ontology/MESH/D003966 MESH CUI
http://purl.bioontology.org/ontology/MDRFRE/10087161 MDRFRE CUI
http://purl.bioontology.org/ontology/NDFRT/N0000000962 NDFRT CUI
http://purl.bioontology.org/ontology/SNOMEDCT/34643004 SNOMEDCT CUI
http://purl.bioontology.org/ontology/MDRFRE/10088278 MDRFRE CUI
http://purl.bioontology.org/ontology/MEDDRA/10088278 MEDDRA CUI
http://purl.bioontology.org/ontology/ICD10CM/Q78.3 ICD10CM CUI
http://purl.bioontology.org/ontology/SCTSPA/34643004 SCTSPA CUI
http://purl.bioontology.org/ontology/MEDDRA/10087161 MEDDRA CUI
http://purl.bioontology.org/ontology/MDRGER/10087161 MDRGER CUI
http://purl.bioontology.org/ontology/ICD10/Q78.3 ICD10 CUI
http://purl.bioontology.org/ontology/MSHFRE/D003966 MSHFRE CUI
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.467.960.720.100 RH-MESH LOOM
http://purl.org/skeletome/bonedysplasia#P000168 BDO LOOM
http://purl.obolibrary.org/obo/NCIT_C20457 BERO LOOM
http://www.semanticweb.org/admin/ontologies/2022/7/MIO:01811 MIO LOOM
http://www.semanticweb.org/zchero/ontologies/2023/11/SepsisOntology#Transforming_Growth_Factor_Beta-1 SEPON LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D23.529.374.687.100 RH-MESH LOOM
http://purl.obolibrary.org/obo/MESH_D053773 BERO LOOM
http://purl.obolibrary.org/obo/dinto_2570 DINTO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D23.529.960.720.100 RH-MESH LOOM
http://purl.bioontology.org/ontology/LNC/MTHU026386 LOINC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.644.276.374.687.100 RH-MESH LOOM
http://purl.bioontology.org/ontology/RXNORM/1426465 RXNORM LOOM
http://purl.uniprot.org/uniprot/P01137 FTC LOOM
http://purl.jp/bio/4/id/200906046599341559 IOBC LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C20457 NCIT LOOM
http://purl.bioontology.org/ontology/MESH/D053773 MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.467.374.687.100 RH-MESH LOOM
http://www.limics.org/hrdo/rdfns#gen_id_15606 HRDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.776.467.942.800.720.100 RH-MESH LOOM
http://purl.bioontology.org/ontology/SNOMEDCT/708710005 SNOMEDCT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D23.529.942.800.720.100 RH-MESH LOOM
http://www.phoc.org.cn/pmo/class/PMO_00021546 PMAPP-PMO LOOM
http://purl.bioontology.org/ontology/LNC/LP64930-8 LOINC LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D053773 RH-MESH LOOM
http://www.orpha.net/ORDO/Orphanet_120047 ORDO LOOM
http://purl.obolibrary.org/obo/OMIT_0025582 OMIT LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.644.276.963.720.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D12.644.276.954.800.720.100 RH-MESH LOOM