BAP1, BRCA1 associated protein 1, 8314

N. diseases: 299; N. variants: 72
Disease: Nonnuclear polymorphic congenital cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3888391
Disease: Nonnuclear polymorphic congenital cataract
Nonnuclear polymorphic congenital cataract 		0.010 GeneticVariation disease BEFREE The most frequently mutated genes in EH-PCC were KRAS (47.4 %), TP53 (23.7 %) and ARID1A (15.8 %); in IH-PCC were KRAS (22.2 %), PBRM1 (16.7 %), and PIK3CA (16.7 %); and in ICC were IDH1 (17.1 %), NRAS (17.1 %), and BAP1 (14.3 %). 26717940 2016