Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C2750789
Disease: RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
RETINITIS PIGMENTOSA, CONCENTRIC (disorder) 		0.700 GeneticVariation UNIPROT Missense mutations in a retinal pigment epithelium protein, bestrophin-1, cause retinitis pigmentosa. 19853238

2009
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C2750789
Disease: RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
RETINITIS PIGMENTOSA, CONCENTRIC (disorder) 		0.700 Biomarker GENOMICS_ENGLAND Mutations of VMD2 splicing regulators cause nanophthalmos and autosomal dominant vitreoretinochoroidopathy (ADVIRC). 15452077

2004
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C2750789
Disease: RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
RETINITIS PIGMENTOSA, CONCENTRIC (disorder) 		0.700 CausalMutation CLINVAR

Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C2750789
Disease: RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
RETINITIS PIGMENTOSA, CONCENTRIC (disorder) 		0.700 Biomarker CTD_human