BEST1, bestrophin 1, 7439

N. diseases: 292; N. variants: 152
Disease: Scleral staphyloma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0155359
Disease: Scleral staphyloma
Scleral staphyloma 		0.300 Biomarker disease GENOMICS_ENGLAND Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). 15452077 2004