Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 Biomarker disease GENOMICS_ENGLAND White matter involvement in a family with a novel PDGFB mutation. 27227165 2016
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 GeneticVariation disease UNIPROT Functional Characterization of Germline Mutations in PDGFB and PDGFRB in Primary Familial Brain Calcification. 26599395 2015
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 Biomarker disease GENOMICS_ENGLAND Brain calcification process and phenotypes according to age and sex: Lessons from SLC20A2, PDGFB, and PDGFRB mutation carriers. 26129893 2015
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 Biomarker disease GENOMICS_ENGLAND First Japanese family with primary familial brain calcification due to a mutation in the PDGFB gene: an exome analysis study. 25211641 2015
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 GeneticVariation disease UNIPROT Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. 23913003 2013
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 Biomarker disease CTD_human
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3809645
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5
BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 5 		0.700 CausalMutation disease CLINVAR
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 GeneticVariation disease BEFREE Recent advancements in cancer genetics and molecular biology methods have elucidated the COL1A1-PDGFB fusion gene, some novel fusion gene variants and pathways related to DFSP pathogenesis that have resulted in the evolution of cutaneous sarcoma diagnosis and treatment. 30874910 2019
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 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: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 GeneticVariation disease BEFREE In attendees, t(17;22) COL1A1-PDGFB FISH testing for classic cases of DFSP is appropriately not being used by respondents. 30155908 2018
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 GeneticVariation disease BEFREE The high frequency of PDGFB rearrangement in vulvar DFSP provides a useful exploit in diagnostically challenging cases and genetic evidence of probable clinical response to targeted therapeutics in cases of locally advanced or metastatic tumors. 29140881 2018
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 Biomarker disease BEFREE Little is known regarding oncoproteins other than platelet-derived growth factor subunit B in dermatofibrosarcoma protuberans (DFSP). 29792909 2018
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 GeneticVariation disease BEFREE Hyalinized zones with cracking artifact, mimicking giant cell fibroblastoma, were present in a 44 (30%) of cases; however FISH for PDGFB gene rearrangement was negative in five tested cases. 28059097 2017
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 GeneticVariation disease BEFREE This is one of the few studies to demonstrate the value of FISH analysis of the COL1A1-PDGFB gene, which could validate complicated and suspected diagnoses in the routine biopsy of DFSP. 28150334 2017
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 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: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 Biomarker disease BEFREE With the development of cytogenetic and molecular biology techniques, the detection of fusion transcripts of the collagen type 1a1 (COL1A1) and platelet-derived growth factor-BB (PDGFB) genes has been recognized as a reliable and valuable molecular tool for the diagnosis of DFSPs. 26261653 2015
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 Biomarker disease BEFREE Dermatofibrosarcoma protuberans (DFSP) is an aggressive PDGFB-dependent cutaneous sarcoma characterized by infiltrative growth and frequent local recurrences. 25852058 2015
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 Biomarker disease BEFREE Although COL1A1/PDGFB fusion gene was identified in the tumor cells recently, not all of the cases were positive for the fusion gene, and further researches are still needed to clarify the pathogenesis of DFSP. 24525843 2014
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 Biomarker disease BEFREE COL1A1-PDGFB gene fusion is frequent in DFSP, rendering tumor cell proliferation and survival dependent on PDGFRβ (platelet-derived growth factor receptor β) signaling. 24173542 2014
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 Biomarker disease BEFREE Molecular characterisation showed the absence of COL1A1-PDGFB fusion transcripts in cases 1, 3 and 4, excluded diagnosis of giant cell fibroblastoma in all cases. 24108432 2014
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 GeneticVariation disease BEFREE The most remarkable cytogenetic feature of DFSP is the chromosomal translocation t(17;22)(q22;q13), causing a fusion of the platelet-derived growth factor beta chain (PDGFB) gene at 22q13, and the collagen type 1 alpha 1 (COL1A1) at 17q22. 23207290 2013
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 AlteredExpression disease BEFREE The COL1A1-PDGFB fusion protein activates the PDGFB receptor and resultant constitutive activation of PDGFR receptor is essential in the pathogenesis of DFSP. 23922791 2013
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 GeneticVariation disease BEFREE PDGFB rearrangement in dermatofibrosarcoma protuberans: correlation with clinicopathologic characteristics and clinical implications. 23347652 2013
CUI: C3693482
Disease: Giant Cell Fibroblastoma
Giant Cell Fibroblastoma 		0.600 GeneticVariation disease BEFREE Differentiating dermatofibrosarcoma protuberans (DFSP) from other dermatofibromas using CD34 immunohistochemistry alone is difficult; therefore, fluorescence in situ hybridisation (FISH) analysis is often employed to identify typical COL1A1-PDGFB fusion or gene rearrangement. 22523339 2012