TGFB1, transforming growth factor beta 1, 7040

N. diseases: 179; N. variants: 27
Source: CURATED ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 GeneticVariation disease UNIPROT TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations. 15103729 2004
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 GeneticVariation disease UNIPROT Osteoclast formation was enhanced approximately 5-fold (P < 0.001) and bone resorption approximately 10-fold (P < 0.001) in CED patients, and the increase in osteoclast formation was inhibited by soluble TGFbeta type II receptor. 12843182 2003
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 GeneticVariation disease UNIPROT Our data indicate that the mutations in the signal peptide and latency-associated peptide facilitate TGF-beta1 signaling, thus causing Camurati-Engelmann disease. 12493741 2003
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease. 11062463 2000
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 GeneticVariation disease UNIPROT Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. 10973241 2000
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 GeneticVariation disease UNIPROT Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease. 11062463 2000
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 Biomarker disease CTD_human
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 Biomarker disease GENOMICS_ENGLAND
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.700 Biomarker disease CTD_human Self-assembled Micelle Interfering RNA for Effective and Safe Targeting of Dysregulated Genes in Pulmonary Fibrosis. 26817844 2016
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.700 Biomarker disease CTD_human Arsenic trioxide inhibits transforming growth factor-β1-induced fibroblast to myofibroblast differentiation in vitro and bleomycin induced lung fibrosis in vivo. 24762191 2014
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.700 Biomarker disease CTD_human Effect of 2-dodecyl-6-methoxycyclohexa-2,5-diene-1,4-dione, isolated from Averrhoa carambola L. (Oxalidaceae) roots, on advanced glycation end-product-mediated renal injury in type 2 diabetic KKAy mice. 23500658 2013
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.700 Biomarker disease CTD_human CTGF can be upregulated by TGF-beta1 and appears to play an important role in the development of pulmonary fibrosis. 19817698 2009
CUI: C0004096
Disease: Asthma
Asthma 		0.700 Biomarker disease CTD_human Association between a TGFbeta1 promoter polymorphism and the phenotype of aspirin-intolerant chronic urticaria in a Korean population. 19138248 2008
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 GermlineModifyingMutation disease ORPHANET These results demonstrate that TGFB1 is a modifier of CF lung disease and reveal a previously unrecognized beneficial effect of TGFB1 variants upon the pulmonary phenotype. 18424453 2008
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.700 Biomarker disease CTD_human Levels of cytokine in bronchoalveolar lavage (BAL) fluid in patients with pulmonary fibrosis due to sulfur mustard gas inhalation. 17266442 2007
CUI: C0004096
Disease: Asthma
Asthma 		0.700 Biomarker disease CTD_human Abnormal expression of TGF-beta1 is believed to play an important role in the pathogenesis of a number of chronic inflammatory and immune lung diseases, including asthma, chronic obstructive pulmonary disease, and pulmonary fibrosis. 16365456 2006
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.700 Biomarker disease CTD_human Abnormal expression of TGF-beta1 is believed to play an important role in the pathogenesis of a number of chronic inflammatory and immune lung diseases, including asthma, chronic obstructive pulmonary disease, and pulmonary fibrosis. 16365456 2006
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.700 Biomarker disease CTD_human Gene expression of cytokines and growth factors in the lungs after paraquat administration in mice. 16324872 2006
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.700 Biomarker disease CTD_human Fibrogenic cytokine levels in bronchoalveolar lavage aspirates 15 years after exposure to sulfur mustard. 15286001 2004
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0010674
Disease: Cystic Fibrosis
Cystic Fibrosis 		0.700 Biomarker disease CTD_human
CUI: C0016059
Disease: Fibrosis
Fibrosis 		0.600 Biomarker phenotype CTD_human Modelling cardiac fibrosis using three-dimensional cardiac microtissues derived from human embryonic stem cells. 30809271 2019
CUI: C0016059
Disease: Fibrosis
Fibrosis 		0.600 Biomarker phenotype CTD_human Galectin-3 contributes to vascular fibrosis in monocrotaline-induced pulmonary arterial hypertension rat model. 27870162 2017
CUI: C0016059
Disease: Fibrosis
Fibrosis 		0.600 Biomarker phenotype CTD_human Aspidin PB, a novel natural anti-fibrotic compound, inhibited fibrogenesis in TGF-β1-stimulated keloid fibroblasts via PI-3K/Akt and Smad signaling pathways. 26054450 2015