GNAS, GNAS complex locus, 2778

N. diseases: 536; N. variants: 61
Disease: Medulloblastoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.020 GeneticVariation disease BEFREE Herein, we report a case of a patient with a novel nonsense mutation in the GNAS gene, who presented with concurrent PLOC and medulloblastoma. 24517547 2014
CUI: C0025149
Disease: Medulloblastoma
Medulloblastoma 		0.020 Biomarker disease BEFREE Ablation of the single Gnas gene in anatomically distinct progenitors in mice is sufficient to induce Shh-associated medulloblastomas, which recapitulate their human counterparts. 25150496 2014