Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.750 GeneticVariation disease UNIPROT In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors. 26796962 2016
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.750 GeneticVariation disease UNIPROT PRPH2 (Peripherin/RDS) mutations associated with different macular dystrophies in a Spanish population: a new mutation. 20213611 2011
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.750 GeneticVariation disease BEFREE Patients with AVMD carried a PRPH2 mutation in 10.5% of cases and did not carry a BEST1 mutation. 21269699 2011
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.750 GeneticVariation disease BEFREE To describe an Italian family in which two separate phenotypes (retinitis pigmentosa and adult onset vitelliform macular dystrophy) are associated with an identical mutation (S212G) in the peripherin/RDS gene. 18050133 2008
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.750 GeneticVariation disease UNIPROT High prevalence of mutations in peripherin/RDS in autosomal dominant macular dystrophies in a Spanish population. 17653047 2007
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.750 Biomarker disease BEFREE Mutations in the genes encoding peripherin/RDS and VMD2 have been previously reported in some subjects with AVMD. 16885924 2006
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.750 GeneticVariation disease UNIPROT A novel RDS/peripherin gene mutation associated with diverse macular phenotypes. 15370544 2004
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.750 GeneticVariation disease BEFREE We describe a frameshift null mutation in the RDS/Peripherin gene associated with a relatively severe manifestation of adult-onset foveomacular dystrophy in affected family members. 12566026 2003
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.750 GermlineCausalMutation disease ORPHANET Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. 10854112 2000
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.750 GeneticVariation disease BEFREE To assess the frequency of peripherin/RDS mutations in the clinically heterogeneous group of AVMD, we analyzed the entire coding region of the gene in 28 unrelated patients. 9338584 1997
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.750 GeneticVariation disease UNIPROT Thus, our results demonstrate that a significant portion of AVMD patients (18%) carry point mutations in peripherin/RDS, suggesting that this gene is frequently involved in the pathogenesis of this macular disorder. 9338584 1997
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.750 GermlineCausalMutation disease ORPHANET Thus, our results demonstrate that a significant portion of AVMD patients (18%) carry point mutations in peripherin/RDS, suggesting that this gene is frequently involved in the pathogenesis of this macular disorder. 9338584 1997
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.750 Biomarker disease CTD_human
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.750 CausalMutation disease CLINVAR
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.750 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2
0.750 GeneticVariation disease CLINVAR
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.660 GeneticVariation disease BEFREE AVMD induced by p.Ile38Ser BEST1 mutation is a mild form of BVMD. 28831140 2017
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.660 GeneticVariation disease BEFREE Mutations in BEST1 cause five distinct retinal degenerative diseases, including adult vitelliform macular dystrophy (AVMD), autosomal recessive bestrophinopathy (ARB), autosomal dominant vitreoretinochoroidopathy (ADVIRC), and retinitis pigmentosa (RP). 24560797 2014
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.660 Biomarker disease BEFREE To evaluate a genetic approach of BEST1 and PRPH2 screening according to age of onset, family history, and Arden ratio in patients with juvenile vitelliform macular dystrophy (VMD2) or adult-onset vitelliform macular dystrophy (AVMD), which are characterized by autofluorescent deposits. 21269699 2011
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.660 GeneticVariation disease BEFREE Mutations in the hBest1 (VMD2) gene are linked to various kinds of macular degeneration, including Best vitelliform macular dystrophy (BVMD) and adult-onset vitelliform macular dystrophy (AVMD). 17898294 2007
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.660 Biomarker disease BEFREE Mutations in the genes encoding peripherin/RDS and VMD2 have been previously reported in some subjects with AVMD. 16885924 2006
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.660 GermlineCausalMutation disease ORPHANET Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. 10854112 2000
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.660 GeneticVariation disease BEFREE Mutations in the VMD2 gene are associated with juvenile-onset vitelliform macular dystrophy (Best disease) and adult vitelliform macular dystrophy but not age-related macular degeneration. 10854112 2000
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.660 Biomarker disease CTD_human
Entrez Id: 7439
Gene Symbol: BEST1
BEST1
0.660 Biomarker disease GENOMICS_ENGLAND