RAP1GAP, RAP1 GTPase activating protein, 5909

N. diseases: 63; N. variants: 4
Disease: Tuberous Sclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0041341
Disease: Tuberous Sclerosis
Tuberous Sclerosis 		0.010 GeneticVariation disease BEFREE Individuals with tuberous sclerosis complex (TSC) develop astrocytoma-like tumors resulting from mutations in the TSC2 protein, tuberin, which is hypothesized to function as a Rap1 GTPase activating protein (GAP). 12469204 2003