Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 GeneticVariation UNIPROT TGFB1 mutations in four new families with Camurati-Engelmann disease: confirmation of independently arising LAP-domain-specific mutations. 15103729

2004
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 GeneticVariation 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
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 GeneticVariation 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
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 GeneticVariation UNIPROT Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease. 10973241

2000
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
CUI: C0011989
Disease: Camurati-Engelmann Syndrome
Camurati-Engelmann Syndrome 		0.800 GeneticVariation UNIPROT Mutations in the gene encoding the latency-associated peptide of TGF-beta 1 cause Camurati-Engelmann disease. 11062463

2000