Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0017638
Disease: Glioma
Glioma 		0.320 GeneticVariation disease BEFREE Mutations in the critical chromatin modifier ATRX and mutations in CIC and FUBP1, which are potent regulators of cell growth, have been discovered in specific subtypes of gliomas, the most common type of primary malignant brain tumors. 22869205 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE One of these tumors also had a deleterious mutation in FUBP1. 24086756 2013
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 GeneticVariation group BEFREE Among other changes, we found that the CIC gene (homolog of the Drosophila gene capicua) on chromosome 19q was somatically mutated in six cases and that the FUBP1 gene [encoding far-upstream element (FUSE) binding protein] on chromosome 1p was somatically mutated in two tumors. 21817013 2011
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.080 GeneticVariation disease BEFREE CIC and FUBP1 mutations occurred frequently in oligodendrogliomas (46% and 24%, respectively) but rarely in astrocytomas or oligoastrocytomas ( more than 10%). 22869205 2012
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.080 GeneticVariation disease BEFREE The meeting consisted of 3 scientific sessions ranging from neuropathology of IDH1 mutations; CIC, ATRX, and FUBP1 mutations in oligodendrogliomas and astrocytomas; and IDH1 mutations as therapeutic targets. 23373454 2013
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.080 GeneticVariation disease BEFREE Using this approach, we detected a to-date undescribed FUBP1 mutation in an oligodendroglioma. 24117486 2014
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.080 GeneticVariation disease BEFREE Causal genetic changes in oligodendrogliomas (OD) with 1p/19q co-deletion include mutations in IDH1, IDH2, CIC, FUBP1, TERT promoter and NOTCH1. 25694352 2015
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.080 GeneticVariation disease BEFREE Our data confirm CIC and FUBP1 mutations in oligodendrogliomas and demonstrate the presence of these mutations in oligoastrocytomas. 22588899 2012
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.080 GeneticVariation disease BEFREE Next-generation molecular biology technologies have recently identified recurrent CIC and FUBP1 point mutations in 1p/19q codeleted and IDH-mutated oligodendrogliomas. 22913971 2012
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.080 GeneticVariation disease BEFREE Examination of 27 additional oligodendrogliomas revealed 12 and 3 more tumors with mutations of CIC and FUBP1, respectively, 58% of which were predicted to result in truncations of the encoded proteins. 21817013 2011
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.080 GeneticVariation disease BEFREE Our data confirm CIC and FUBP1 mutations in oligodendrogliomas and demonstrate the presence of these mutations in oligoastrocytomas. 22588899 2012
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.080 GeneticVariation disease BEFREE Using this approach, we detected a to-date undescribed FUBP1 mutation in an oligodendroglioma. 24117486 2014
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.080 GeneticVariation disease BEFREE Causal genetic changes in oligodendrogliomas (OD) with 1p/19q co-deletion include mutations in IDH1, IDH2, CIC, FUBP1, TERT promoter and NOTCH1. 25694352 2015
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.080 GeneticVariation disease BEFREE Examination of 27 additional oligodendrogliomas revealed 12 and 3 more tumors with mutations of CIC and FUBP1, respectively, 58% of which were predicted to result in truncations of the encoded proteins. 21817013 2011
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.080 GeneticVariation disease BEFREE Next-generation molecular biology technologies have recently identified recurrent CIC and FUBP1 point mutations in 1p/19q codeleted and IDH-mutated oligodendrogliomas. 22913971 2012
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.080 GeneticVariation disease BEFREE The meeting consisted of 3 scientific sessions ranging from neuropathology of IDH1 mutations; CIC, ATRX, and FUBP1 mutations in oligodendrogliomas and astrocytomas; and IDH1 mutations as therapeutic targets. 23373454 2013
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.080 GeneticVariation disease BEFREE CIC and FUBP1 mutations occurred frequently in oligodendrogliomas (46% and 24%, respectively) but rarely in astrocytomas or oligoastrocytomas ( more than 10%). 22869205 2012
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		0.030 GeneticVariation disease BEFREE Mutations in CIC and FUBP1 contribute to human oligodendroglioma. 21817013 2011
CUI: C0279070
Disease: Adult Oligodendroglioma
Adult Oligodendroglioma 		0.030 GeneticVariation disease BEFREE Using this approach, we detected a to-date undescribed FUBP1 mutation in an oligodendroglioma. 24117486 2014
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		0.030 GeneticVariation disease BEFREE Using this approach, we detected a to-date undescribed FUBP1 mutation in an oligodendroglioma. 24117486 2014
CUI: C0280475
Disease: Childhood Oligodendroglioma
Childhood Oligodendroglioma 		0.030 GeneticVariation disease BEFREE Mutations in CIC and FUBP1 contribute to human oligodendroglioma. 21817013 2011
CUI: C0334590
Disease: Anaplastic Oligodendroglioma
Anaplastic Oligodendroglioma 		0.020 GeneticVariation disease BEFREE These findings confirm that IDH, CIC, FUBP1 mutations and rs55705857 genotype are common in AO. 28388591 2017
CUI: C0002878
Disease: Anemia, Hemolytic
Anemia, Hemolytic 		0.010 GeneticVariation disease BEFREE We have identified a new mutation in the FBP (fructose 1,6-bisphosphate) aldolase A gene in a child with suspected haemolytic anaemia associated with myopathic symptoms at birth and with a subsequent diagnosis of arthrogryposis multiplex congenita and pituitary ectopia. 14766013 2004
CUI: C0003886
Disease: Arthrogryposis
Arthrogryposis 		0.010 GeneticVariation disease BEFREE We have identified a new mutation in the FBP (fructose 1,6-bisphosphate) aldolase A gene in a child with suspected haemolytic anaemia associated with myopathic symptoms at birth and with a subsequent diagnosis of arthrogryposis multiplex congenita and pituitary ectopia. 14766013 2004
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 GeneticVariation disease BEFREE CIC and FUBP1 mutations occurred frequently in oligodendrogliomas (46% and 24%, respectively) but rarely in astrocytomas or oligoastrocytomas ( more than 10%). 22869205 2012