Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Experimental Organism Basal Cell Carcinoma
0.030 GeneticVariation phenotype BEFREE The clinical spectrum differs between SUFU and PTCH1 mutation carriers, and BCC incidence is much lower in SUFU mutation carriers. 29186568 2018
Experimental Organism Basal Cell Carcinoma
0.030 GeneticVariation phenotype BEFREE Eighty-five percent of the BCCs harbored mutations in Hh pathway genes (PTCH1, 73% or SMO, 20% (P = 6.6 × 10(-8)) and SUFU, 8%) and in TP53 (61%). 26950094 2016
Experimental Organism Basal Cell Carcinoma
0.030 GeneticVariation phenotype BEFREE None of the BCCs showed LOH at markers flanking the SUFUH locus. 15656799 2005