GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Pseudomyxoma Peritonei ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0033822
Disease: Pseudomyxoma Peritonei
Pseudomyxoma Peritonei 		0.040 Biomarker disease BEFREE PKA pathway, which also contains GNAS, is a major player of overproduction of mucin, which is the characteristic feature of PMP. 28426742 2017
CUI: C0033822
Disease: Pseudomyxoma Peritonei
Pseudomyxoma Peritonei 		0.040 GeneticVariation disease BEFREE Although frequent mutations in KRAS and/or GNAS genes have been reported, precise molecular mechanism underlying PMP remains to be elucidated. 27938333 2016
CUI: C0033822
Disease: Pseudomyxoma Peritonei
Pseudomyxoma Peritonei 		0.040 GeneticVariation disease BEFREE Our results indicate that KRAS mutations are evident in all and GNAS mutations in most of the PMPs, but BRAF V600E, PIK3CA and APC mutations are rare. 25274248 2015
CUI: C0033822
Disease: Pseudomyxoma Peritonei
Pseudomyxoma Peritonei 		0.040 GeneticVariation disease BEFREE These results suggested that KRAS and/or GNAS mutations are common genetic features of PMP, and that mutations in TP53 and/or genes related to the PI3K-AKT pathway may render malignant properties to PMP. 26475379 2015