rs113488022, BRAF

N. diseases: 490
Disease: ACTH-Secreting Pituitary Adenoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ACTH-Secreting Pituitary Adenoma
CUI: C1306214
Disease: ACTH-Secreting Pituitary Adenoma
0.010 GeneticVariation BEFREE Here, we report recurrent mutations in the deubiquitinase gene USP48 (predominantly encoding p.M415I or p.M415V; 21/91 subjects) and BRAF (encoding p.V600E; 15/91 subjects) in corticotroph adenomas with wild-type USP8. 30093687 2018