Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 Biomarker disease CTD_human
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 CausalMutation disease CLINVAR
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.430 Biomarker disease CTD_human
Entrez Id: 3617
Gene Symbol: IMPG1
IMPG1
0.330 Biomarker disease CTD_human
Entrez Id: 50939
Gene Symbol: IMPG2
IMPG2
0.310 Biomarker disease CTD_human
Entrez Id: 2495
Gene Symbol: FTH1
FTH1
0.100 CausalMutation disease CLINVAR
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.100 Biomarker disease BEFREE 194 DMD and 35 BMD patients were registered. 25612904 2015
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 GeneticVariation disease UNIPROT Best's macular dystrophy (BMD), also known as vitelliform macular degeneration type 2 (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration with mainly juvenile onset. 10394929 1999
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 Biomarker disease BEFREE Best's macular dystrophy (BMD), also known as vitelliform macular degeneration type 2 (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration with mainly juvenile onset. 10394929 1999
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 GeneticVariation disease UNIPROT Vitelliform macular dystrophy (VMD2, Best disease, MIM153700) is an early onset, autosomal, dominant macular degeneration characterized by the deposition of lipofuscin-like material within and below the retinal pigment epithelium (RPE); it is associated with degeneration of the RPE and overlying photoreceptors. 10453731 1999
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 GeneticVariation disease BEFREE Vitelliform macular dystrophy (VMD2, Best disease, MIM153700) is an early onset, autosomal, dominant macular degeneration characterized by the deposition of lipofuscin-like material within and below the retinal pigment epithelium (RPE); it is associated with degeneration of the RPE and overlying photoreceptors. 10453731 1999
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 GeneticVariation disease BEFREE Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. 11449320 2001
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 GeneticVariation disease UNIPROT Best's vitelliform macular dystrophy caused by a new mutation (Val89Ala) in the VMD2 gene. 11449320 2001
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 GeneticVariation disease BEFREE Best macular dystrophy (BMD) is an autosomal dominant retinopathy caused by mutations in the VMD2 gene that encodes a chloride channel in the basolateral membrane of the retinal pigment epithelium (RPE). 12565808 2003
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 GeneticVariation disease BEFREE Best vitelliform macular dystrophy (BMD) is an autosomal dominant inherited macular degenerative disease caused by mutations in the gene BEST1 (formerly VMD2). 17477921 2007
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 GeneticVariation disease BEFREE Best vitelliform macular dystrophy (BVMD) is an autosomal dominant hereditary retinal disease caused by BEST1 gene mutations. 27031371 2017
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 GeneticVariation disease BEFREE Best vitelliform macular dystrophy (VMD) is an autosomal dominant inherited dystrophy, most frequently caused by mutations in the BEST1 gene. 29664989 2018
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 GeneticVariation disease UNIPROT Best macular dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration characterized by an abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. 9662395 1998
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 Biomarker disease BEFREE Best macular dystrophy (BMD), also known as vitelliform macular dystrophy (VMD2; OMIM 153700), is an autosomal dominant form of macular degeneration characterized by an abnormal accumulation of lipofuscin within and beneath the retinal pigment epithelium cells. 9662395 1998
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 GeneticVariation disease BEFREE VMD2 mutations in vitelliform macular dystrophy (Best disease) and other maculopathies. 10737974 2000
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 GeneticVariation disease BEFREE VMD2 encodes bestrophin, a transmembrane protein located at the basolateral membrane of the RPE, that is also mutated in Best macular dystrophy. 15452077 2004
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 Biomarker disease GENOMICS_ENGLAND VMD2 encodes bestrophin, a transmembrane protein located at the basolateral membrane of the RPE, that is also mutated in Best macular dystrophy. 15452077 2004
Entrez Id: 1756
Gene Symbol: DMD
DMD
0.100 Biomarker disease BEFREE Dystrophin was analysed by mixing in increasing proportions (from 0% to 100%) aliquots of solubilised muscle from BMD patients with a qualitatively abnormal dystrophin and a normal male control. 1640426 1992
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
1.000 Biomarker disease BEFREE Bestrophin-1 (Best-1) is an integral membrane protein, defects in which cause Best vitelliform macular dystrophy. 16600174 2006