Source: CLINVAR

Gene Gene Full Name DSI g DPI g pLI Disease Type Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		bestrophin 1 0.465 0.885 1.8E-12
CUI: C0339510
Disease: Vitelliform Macular Dystrophy
Vitelliform Macular Dystrophy 		disease 1.000 None 0.972 6 30 1993 2019
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		bestrophin 1 0.465 0.885 1.8E-12
CUI: C3888198
Disease: BESTROPHINOPATHY, AUTOSOMAL RECESSIVE
BESTROPHINOPATHY, AUTOSOMAL RECESSIVE 		disease 0.800 strong 0.970 8 15 2000 2019
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		bestrophin 1 0.465 0.885 1.8E-12
CUI: C3888099
Disease: Autosomal dominant vitreoretinochoroidopathy
Autosomal dominant vitreoretinochoroidopathy 		disease 0.800 strong 1.000 0 4 2004 2018
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		bestrophin 1 0.465 0.885 1.8E-12
CUI: C2750789
Disease: RETINITIS PIGMENTOSA, CONCENTRIC (disorder)
RETINITIS PIGMENTOSA, CONCENTRIC (disorder) 		disease 0.700 strong 1.000 0 4 2004 2009
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		bestrophin 1 0.465 0.885 1.8E-12
CUI: C2674009
Disease: Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 		disease 0.600 None 1.000 0 1 2004 2004
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		bestrophin 1 0.465 0.885 1.8E-12
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		disease 0.430 strong 1.000 1 3 2009 2019
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		bestrophin 1 0.465 0.885 1.8E-12
CUI: C0854723
Disease: Retinal Dystrophies
Retinal Dystrophies 		group 0.130 None 1.000 1 1 2009 2016
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		bestrophin 1 0.465 0.885 1.8E-12
CUI: C0730292
Disease: Macular dystrophy
Macular dystrophy 		disease 0.110 None 1.000 1 2 2019 2019
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		bestrophin 1 0.465 0.885 1.8E-12
CUI: C1855465
Disease: STARGARDT DISEASE 1 (disorder)
STARGARDT DISEASE 1 (disorder) 		disease 0.100 None 1.000 1 1 2019 2019
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		bestrophin 1 0.465 0.885 1.8E-12
CUI: C0234632
Disease: Reduced visual acuity
Reduced visual acuity 		phenotype 0.100 None 0 1
Entrez Id: 7439
Gene Symbol: BEST1
BEST1 		bestrophin 1 0.465 0.885 1.8E-12
CUI: C1839025
Disease: Decreased light- and dark-adapted electroretinogram amplitude
Decreased light- and dark-adapted electroretinogram amplitude 		phenotype 0.100 None 0 1