Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1333993
Disease: hereditary paraganglioma
hereditary paraganglioma
0.010 GeneticVariation disease BEFREE Because the protein phosphatase 2 regulatory subunit A beta isoform gene (PPP2R1B) maps within the critical region of hereditary paraganglioma (PGL1) on chromosomal band 11q23, we characterized its genomic structure and evaluated it as a candidate gene for PGL1.PPP2R1B has 15 exons spanning approx.27kb genomic distance. 9795170 1998