GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 GeneticVariation group BEFREE As the P2RY8 locus is modified in several other types of cancer in addition to GCB-DLBCL and Burkitt lymphoma, we speculate that GGG might have organizing and growth-regulatory roles in multiple human tissues. 30842656 2019
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 GeneticVariation group BEFREE The incomplete phenocopy of Gα13- and S1PR2 deficiency led us to discover that P2RY8, an orphan receptor that is mutated in GCB-DLBCL and another germinal centre B-cell-derived malignancy, Burkitt's lymphoma, also represses germinal centre B-cell growth and promotes confinement via Gα13. 25274307 2014
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 Biomarker group BEFREE Our strain of mice, with inducible deficiency of β-glucocerebrosidase in haematopoietic cells and a high frequency of sporadic lethal B cell malignancies, faithfully recapitulates human Gaucher's disease: it serves as a tractable model to investigate the putative role of bioactive sphingolipids in the control of B cell proliferation and the pathogenesis of myelomatosis-the most prevalent human cancer associated with this disorder. 23775597 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 GeneticVariation group BEFREE This paper describes the use of N-GBA arrays designed to scan the sequence of a 33 base region of exon 8 of the p53 gene (codons 272-282) encompassing a hot spot for mutations associated with the development of cancer. 9396817 1997
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm
0.050 Biomarker group BEFREE Both the FNAB and TRUS-GCB undergraded the cancer by one WHO grade in about 35-40% of cases. 7833004 1994