Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 57521
Gene Symbol: RPTOR
RPTOR
0.010 GeneticVariation disease BEFREE Concurrent TSC2 and RPTOR mutations were present in two cases (1 sporadic and 1 neurofibromatosis type-1-associated). 29973652 2018