USP48, ubiquitin specific peptidase 48, 84196

N. diseases: 18; N. variants: 3
Disease: Pituitary-dependent Cushing's disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0221406
Disease: Pituitary-dependent Cushing's disease
Pituitary-dependent Cushing's disease 		0.020 GeneticVariation disease BEFREE Our analyses clearly indicate that somatic mutations in the deubiquitinases are the key drivers in CD, namely USP8 (36.5%) and USP48 (13.3%). 31717455 2019
CUI: C0221406
Disease: Pituitary-dependent Cushing's disease
Pituitary-dependent Cushing's disease 		0.020 GeneticVariation disease BEFREE Identification of recurrent USP48 and BRAF mutations in Cushing's disease. 30093687 2018