COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Sarcoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.040 Biomarker group BEFREE CD34 was diffusely positive in all 3 of the COL1A1-PDGFB fusion sarcomas. 30877273 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.040 Biomarker group BEFREE The presence of COL1A1-USP6 gene rearrangement in MO/FOPD links these lesions to other USP6-driven tumors and represents a very useful supportive marker, which may help to avoid overdiagnosis of MO/FOPD as a sarcoma. 30946936 2019
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.040 GeneticVariation group BEFREE Nothing is known about the status of the COL1A1-PDGFB chimaeric gene in the pleomorphic areas of DFSP-PleoSarc (formerly known as DFSP-malignant fibrous sarcoma). 16731589 2007
CUI: C1261473
Disease: Sarcoma
Sarcoma 		0.040 GeneticVariation group LHGDN Analysis of polymorphisms of the vitamin D receptor, estrogen receptor, and collagen Ialpha1 genes and their relationship with height in children with bone cancer. 14528100 2003