rs760031382, PAX5

N. diseases: 5
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Neoplasms
CUI: C0027651
Disease: Neoplasms
0.010 GeneticVariation BEFREE The absence of mutant IDH1 R132H protein expression in AG may help further distinguish this unique neoplasm from diffuse glioma. 22445362 2012
Glioma
CUI: C0017638
Disease: Glioma
0.010 GeneticVariation BEFREE Mutations of isocitrate dehydrogenase-1 gene (IDH1), most commonly resulting in replacement of arginine at position 132 by histidine (R132H), have been described in World Health Organization grade II and III diffuse gliomas and secondary glioblastoma. 22445362 2012
Diffuse Glioma
CUI: C4289690
Disease: Diffuse Glioma
0.010 GeneticVariation BEFREE IDH1 R132H mutation has been described as a common molecular signature of grade II and III diffuse gliomas and secondary glioblastoma; however, AG, which exhibits some features of diffuse glioma, has not been evaluated. 22445362 2012
Angiocentric glioma
CUI: C2363903
Disease: Angiocentric glioma
0.010 GeneticVariation BEFREE IDH1 R132H mutation has been described as a common molecular signature of grade II and III diffuse gliomas and secondary glioblastoma; however, AG, which exhibits some features of diffuse glioma, has not been evaluated. 22445362 2012
Glioblastoma, IDH-Mutant
CUI: C1519214
Disease: Glioblastoma, IDH-Mutant
0.010 GeneticVariation BEFREE IDH1 R132H mutation has been described as a common molecular signature of grade II and III diffuse gliomas and secondary glioblastoma; however, AG, which exhibits some features of diffuse glioma, has not been evaluated. 22445362 2012