COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 AlteredExpression disease BEFREE Molecular biology has been valuable in showing dermatofibrosarcoma protuberans and infantile fibrosarcoma that are characterized by COL1A1-PDGFB and ETV6-NTRK3 rearrangements respectively. 30187166 2019
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 Biomarker disease BEFREE Dermatofibrosarcoma protuberans is underlined by recurrent collagen type I alpha 1 chain-platelet-derived growth factor B chain (COL1A1-PDGFB) fusions but ~ 4% of typical dermatofibrosarcoma protuberans remain negative for this translocation in routine molecular screening. 29955147 2018
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 AlteredExpression disease BEFREE Application of COL1A1-PDGFB fusion gene detection by fluorescence in situ hybridization in biopsy tissue of dermatofibrosarcoma protuberans. 28150334 2017
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 GeneticVariation disease BEFREE Dermatofibrosarcoma protuberans is characterized by a specific translocation t(17;22)(q22;q13) leading to the formation of COL1A1-PDGFB fusion transcripts. 27806849 2016
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 GeneticVariation disease BEFREE Cytogenetically, most dermatofibrosarcoma protuberans are characterized by chromosomal rearrangements resulting in the collagen type-1 alpha 1 (COL1A1)-platelet-derived growth factor β (PDGFB) fusion gene. 25081750 2015
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 GeneticVariation disease BEFREE Atrophic dermatofibrosarcoma protuberans with the fusion gene COL1A1-PDGFB detected by RT-PCR using only a single primer pair. 26261653 2015
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 Biomarker disease BEFREE A rapid and efficient newly established method to detect COL1A1-PDGFB gene fusion in dermatofibrosarcoma protuberans. 22842571 2012
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 GeneticVariation disease BEFREE Identification of t(17;22)(q22;q13) (COL1A1/PDGFB) in dermatofibrosarcoma protuberans by fluorescence in situ hybridization in paraffin-embedded tissue microarrays. 21111450 2011
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 Biomarker disease BEFREE Genomic gains of COL1A1-PDFGB occur in the histologic evolution of giant cell fibroblastoma into dermatofibrosarcoma protuberans. 18069662 2008
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 Biomarker disease BEFREE Dermatofibrosarcoma protuberans COL1A1-PDGFB fusion is identified in virtually all dermatofibrosarcoma protuberans cases when investigated by newly developed multiplex reverse transcription polymerase chain reaction and fluorescence in situ hybridization assays. 17950782 2008
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 GeneticVariation disease LHGDN Dermatofibrosarcoma protuberans COL1A1-PDGFB fusion is identified in virtually all dermatofibrosarcoma protuberans cases when investigated by newly developed multiplex reverse transcription polymerase chain reaction and fluorescence in situ hybridization assays. 17950782 2008
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 GeneticVariation disease BEFREE Complex t(5;8) involving the CSPG2 and PTK2B genes in a case of dermatofibrosarcoma protuberans without the COL1A1-PDGFB fusion. 18253748 2008
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 GeneticVariation disease BEFREE A novel fusion gene of collagen type I alpha 1 (exon 31) and platelet-derived growth factor B-chain (exon 2) in dermatofibrosarcoma protuberans. 17478383 2007
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 AlteredExpression disease BEFREE Detection of COL1A1-PDGFB fusion transcripts and PDGFB/PDGFRB mRNA expression in dermatofibrosarcoma protuberans. 17431412 2007
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 GeneticVariation disease BEFREE Essentially no difference in the copy number of COL1A1-PDGFB fusion gene was observed between dermatofibrosarcoma protuberans areas of classic dermatofibrosarcoma protuberans and dermatofibrosarcoma protuberans areas of fibrosarcomatous dermatofibrosarcoma protuberans (median PDGFB copy gain of 1.8 versus 1.7, respectively, P=0.36). 16980946 2006
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 GeneticVariation disease BEFREE Fusion of the collagen type I a 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been pointed out in dermatofibrosarcoma protuberans. 16040406 2005
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 GeneticVariation disease BEFREE The novel fusion partners appear well suited to drive USP6 transcription in the bone/mesenchymal context: osteomodulin is expressed strongly in osteoblastic lineages, and the COL1A1 promoter has an oncogenic role in the mesenchymal cancer dermatofibrosarcoma protuberans. 15735689 2005
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 GeneticVariation disease BEFREE Fusion of the collagen type I alpha 1 (COL1A1) gene with the platelet-derived growth factor B-chain (PDGFB) gene has been pointed out in dermatofibrosarcoma protuberans (DFSP). 14643521 2003
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 GeneticVariation disease BEFREE Dermatofibrosarcoma protuberans of the vulva and groin: detection of COL1A1-PDGFB fusion transcripts by RT-PCR. 12641779 2003
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 GeneticVariation disease BEFREE Dermatofibrosarcoma protuberans with COL1A1 (exon 18) -PDGFB (exon 2) fusion transcript. 12786837 2003
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 GeneticVariation disease LHGDN COLIA1-PDGFB gene fusion in dermatofibrosarcoma protuberans. molecular analysis of a case with an unusual large marker containing sequences from chromosomes 7, 8, 17, 21, and 22. 12127408 2002
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 GeneticVariation disease BEFREE Because COL1A1 exon 29 has been involved previously in gene fusion with PDGFB exon 2 in several cases of adult or infantile DP presenting either t(17;22) or ring chromosomes, our results support the concept that DP, GCF, and BT are morphologic variants of a same entity, rather than distinct tumors. 12034531 2002
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 Biomarker disease LHGDN Because COL1A1 exon 29 has been involved previously in gene fusion with PDGFB exon 2 in several cases of adult or infantile DP presenting either t(17;22) or ring chromosomes, our results support the concept that DP, GCF, and BT are morphologic variants of a same entity, rather than distinct tumors. 12034531 2002
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 AlteredExpression disease BEFREE These results strongly suggest that the COL1A1-PDGFB chimeric gene expression associated with DP, induces tumours formation through production of mature PDGFB, in an autocrine or paracrine way. 11420709 2001
CUI: C0206647
Disease: Dermatofibrosarcoma
Dermatofibrosarcoma
0.100 AlteredExpression disease BEFREE Expression of COL1A1-PDGFB fusion transcripts in superficial adult fibrosarcoma suggests a close relationship to dermatofibrosarcoma protuberans. 11329146 2001