TGFB1, transforming growth factor beta 1, 7040

N. diseases: 1558; N. variants: 50
Disease: Camurati-Engelmann Syndrome ×
Source: ALL
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 BEFREE Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. 10973241 2000
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 Biomarker disease BEFREE Camurati-Engelmann disease (CED [MIM 131300]), or progressive diaphyseal dysplasia, is an autosomal dominant sclerosing bone dysplasia characterized by progressive bone formation along the periosteal and endosteal surfaces at the diaphyseal and metaphyseal regions of long bones and cranial hyperostosis, particularly at the skull base. 10631145 2000
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 GeneticVariation disease BEFREE 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 CausalMutation disease CLINVAR
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 Biomarker disease HPO
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