rs55819519, TP53

N. diseases: 40
Disease: Brain Neoplasms ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.020 GeneticVariation BEFREE Cytosolic isocitrate dehydrogenase 1 (IDH1) with an R132H mutation in brain tumors loses its enzymatic activity for catalyzing isocitrate to α-ketoglutarate (α-KG) and acquires new activity whereby it converts α-KG to 2-hydroxyglutarate. 24077277 2013
Brain Neoplasms
CUI: C0006118
Disease: Brain Neoplasms
0.020 GeneticVariation BEFREE A total of 343 brain tumors were studied for IDH1 and IDH2 mutations by direct sequencing and for protein expression by immunohistochemistry with mIDH1(R132H) antibody. 21643842 2011