ACVR1, activin A receptor type 1, 90

N. diseases: 144; N. variants: 15
Disease: Posterior subcapsular cataract ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0858617
Disease: Posterior subcapsular cataract
Posterior subcapsular cataract 		0.010 Biomarker disease BEFREE Trp53(CKO) and Acvr1;Trp53(DCKO) (double conditional knockout), but not Acvr1(CKO), lenses developed abnormal collections of cells at the posterior of the lens that resembled posterior subcapsular cataracts. 21504908 2011