Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2980
Gene Symbol: GUCA2A
GUCA2A 		0.010 GeneticVariation group BEFREE Reanalysis of Association of Pro50Leu Substitution in Guanylate Cyclase Activating Protein-1 With Dominant Retinal Dystrophy. 31804667 2019
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		0.010 GeneticVariation group BEFREE Novel deleterious variants in IDH3B and ARL6 were identified, supporting their involvement in RD. 31736247 2020
Entrez Id: 3420
Gene Symbol: IDH3B
IDH3B 		0.010 GeneticVariation group BEFREE Novel deleterious variants in IDH3B and ARL6 were identified, supporting their involvement in RD. 31736247 2020
Entrez Id: 9445
Gene Symbol: ITM2B
ITM2B 		0.120 Biomarker group BEFREE This cellular model will provide a powerful tool to study this retinal dystrophy and better understand the role of ITM2B. 31731182 2019
Entrez Id: 2978
Gene Symbol: GUCA1A
GUCA1A 		0.120 GeneticVariation group BEFREE Characterization of GUCA1A-associated dominant cone/cone-rod dystrophy: low prevalence among Japanese patients with inherited retinal dystrophies. 31728034 2019
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		0.110 Biomarker group BEFREE GUCY2D-LCA is a severe early-onset retinal dystrophy associated with very poor VA from birth. 31704230 2020
Entrez Id: 6120
Gene Symbol: RPE
RPE 		0.010 GeneticVariation group BEFREE Among retinal degenerative diseases, impairment of some RPE genes engenders a spectrum of conditions ranging from stationary visual defects to very severe forms of retinal dystrophies in which the RPE dysfunction leads to photoreceptors cell death and consecutive irreversible vision loss. 31654386 2019
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.500 Biomarker group BEFREE RPE65-associated Leber congenital amaurosis (LCA) is one of highly heterogeneous, early onset, severe retinal dystrophies with at least 130 gene mutation sites identified. 31572124 2019
Entrez Id: 6121
Gene Symbol: RPE65
RPE65 		0.500 GeneticVariation group BEFREE Efficacy, Safety, and Durability of Voretigene Neparvovec-rzyl in RPE65 Mutation-Associated Inherited Retinal Dystrophy: Results of Phase 1 and 3 Trials. 31443789 2019
Entrez Id: 145226
Gene Symbol: RDH12
RDH12 		0.460 Biomarker group BEFREE <b>Conclusions</b>: Choroidal neovascularization may be a unique occurrence in <i>RDH12-</i>associated retinal dystrophy. 31424981 2019
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1 		0.180 GeneticVariation group BEFREE To report the clinical and molecular findings in patients with retinal dystrophy associated with the c.783G>A variant in CDHR1. 31387115 2019
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		0.200 GeneticVariation group BEFREE Two homozygous missense mutations in the crumbs homolog 1 (CRB1) gene, which is known to cause severe retinal dystrophies, were found to be related to the phenotype of the two arRP families. 31322236 2019
Entrez Id: 6597
Gene Symbol: SMARCA4
SMARCA4 		0.010 GeneticVariation group BEFREE Retinal dystrophy in an individual carrying a de novo missense variant of SMARCA4. 30973214 2019
Entrez Id: 80216
Gene Symbol: ALPK1
ALPK1 		0.100 GeneticVariation group CLINVAR ALPK1 missense pathogenic variant in five families leads to ROSAH syndrome, an ocular multisystem autosomal dominant disorder. 30967659 2019
Entrez Id: 57709
Gene Symbol: SLC7A14
SLC7A14 		0.010 GeneticVariation group BEFREE Phenotypic variability of SLC7A14 mutations in patients with inherited retinal dystrophy. 30924391 2019
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.110 GeneticVariation group BEFREE Mutations in the RP1 gene are associated with a broad spectrum of progressive retinal dystrophies. 30913292 2019
Entrez Id: 3920
Gene Symbol: LAMP2
LAMP2 		0.010 Biomarker group BEFREE Retinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epithelium. 30836785 2019
Entrez Id: 23418
Gene Symbol: CRB1
CRB1 		0.200 CausalMutation group CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 CausalMutation group CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 GeneticVariation group CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1 		0.180 GeneticVariation group CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.110 GeneticVariation group CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		0.100 GeneticVariation group CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 84140
Gene Symbol: FAM161A
FAM161A 		0.100 CausalMutation group CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709 2019
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.200 Biomarker group BEFREE ABCA4-associated disease, a recessive retinal dystrophy, is hallmarked by a large proportion of patients with only one pathogenic ABCA4 variant, suggestive for missing heritability. 30670881 2019