Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.110 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		0.110 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019