TSC2, TSC complex subunit 2, 7249

N. diseases: 410; N. variants: 317
Disease: Methylmalonic acidemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268583
Disease: Methylmalonic acidemia
Methylmalonic acidemia 		0.010 GeneticVariation phenotype BEFREE Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. 27748010 2017