Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
0.950 GeneticVariation disease BEFREE The same mutation has been described in unrelated patients with non-syndromic cone-rod dystrophy and other C8orf37 changes were found in individuals with retinitis pigmentosa. 26854863 2016
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
0.950 GeneticVariation disease BEFREE Mutations in C8ORF37 were previously associated with severe autosomal recessive retinal dystrophies (retinitis pigmentosa RP64 and cone-rod dystrophy CORD16) but not BBS. 27008867 2016
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
0.950 GeneticVariation disease BEFREE Recessive C8orf37 mutations have been identified in early to adolescent-onset arRP and arCRD with macular involvement. 25113443 2016
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
0.950 GeneticVariation disease BEFREE In this report, we describe C8orf37 mutations that cause retinal dystrophy in two families of Pakistani origin, contributing further data on the phenotype and the spectrum of mutations in this form of retinitis pigmentosa. 25802487 2015
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
0.950 GeneticVariation disease BEFREE Eight patients--four diagnosed with retinitis pigmentosa (RP) and four with cone-rod dystrophy (CRD), carrying causal C8orf37 mutations--were clinically evaluated, including extensive medical history taking, slit-lamp biomicroscopy, ophthalmoscopy, kinetic perimetry, electroretinography (ERG), spectral-domain optical coherence tomography (SD-OCT), autofluorescence (AF) imaging, and fundus photography. 23788369 2013
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
0.950 GermlineCausalMutation disease ORPHANET Mutations in C8orf37, encoding a ciliary protein, are associated with autosomal-recessive retinal dystrophies with early macular involvement. 22177090 2012
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
0.950 CausalMutation disease CLINVAR
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
0.950 Biomarker disease HPO
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
0.950 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
0.950 Biomarker disease CTD_human
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
0.950 Biomarker disease MGD
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
0.950 GeneticVariation disease CLINVAR
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
0.900 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 GeneticVariation disease BEFREE In this work, we have generated an induced pluripotent stem cell (iPSC) line derived from a RP patient with two heterozygous mutations in the cGMP-specific phosphodiesterase 6A alpha subunit (PDE6A) gene. 30685614 2019
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 CausalMutation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
0.900 GeneticVariation disease CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
0.900 Biomarker disease BEFREE Using the Pde6b <sup>rd10/rd10</sup> mouse model of RP, we investigated the effects of daily intraperitoneal administration of VP3.15, a small-molecule heterocyclic GSK-3 inhibitor. 29661219 2018
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
0.900 GeneticVariation disease BEFREE To evaluate the progression of retinitis pigmentosa (RP) caused by mutations in either PDE6A or PDE6B by measuring the progressive constriction of the hyperautofluorescent ring and shortening of the ellipsoid zone (EZ)-line width. 30153077 2018
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 GeneticVariation disease BEFREE To report the co-existence of novel biallelic PDE6A mutations and heterozygous RPGR mutation in a Chinese female patient with retinitis pigmentosa (RP), and to analyze the intrafamilial phenotypic diversity. 30289068 2018
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 GeneticVariation disease BEFREE To evaluate the progression of retinitis pigmentosa (RP) caused by mutations in either PDE6A or PDE6B by measuring the progressive constriction of the hyperautofluorescent ring and shortening of the ellipsoid zone (EZ)-line width. 30153077 2018
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 GeneticVariation disease BEFREE By using targeted NGS method, we identified a compound heterozygous mutation in PDE6A gene that is associated with RP in a Chinese family. 29693493 2018
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 Biomarker disease BEFREE Gene therapy successfully delays degeneration in a mouse model of PDE6A-linked retinitis pigmentosa (RP 43). 29212391 2017
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 Biomarker disease BEFREE Gene Supplementation Rescues Rod Function and Preserves Photoreceptor and Retinal Morphology in Dogs, Leading the Way Towards Treating Human PDE6A-Retinitis Pigmentosa. 29212382 2017
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B
0.900 GeneticVariation disease BEFREE In particular, pharmacological activation of S1R was recently shown to rescue cones in the rd10 mouse, a rod Pde6b mutant that recapitulates the RP pathology of autonomous rod degeneration followed by secondary death of cones. 28927431 2017
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A
0.900 Biomarker disease BEFREE Gene Therapy in a Large Animal Model of PDE6A-Retinitis Pigmentosa. 28676737 2017