Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 22932
Gene Symbol: POMZP3
POMZP3 		0.300 Biomarker disease GENOMICS_ENGLAND Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. 28041643 2017
Entrez Id: 5149
Gene Symbol: PDE6H
PDE6H 		0.110 Biomarker disease HPO
Entrez Id: 83394
Gene Symbol: PITPNM3
PITPNM3 		0.100 Biomarker disease HPO
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.160 CausalMutation disease CLINVAR
Entrez Id: 1261
Gene Symbol: CNGA3
CNGA3 		0.140 GeneticVariation disease CLINVAR Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia. 18521937 2008
Entrez Id: 5961
Gene Symbol: PRPH2
PRPH2 		0.120 CausalMutation disease CLINVAR
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		0.120 GeneticVariation disease CLINVAR An assessment of the apex microarray technology in genotyping patients with Leber congenital amaurosis and early-onset severe retinal dystrophy. 18055820 2007
Entrez Id: 3000
Gene Symbol: GUCY2D
GUCY2D 		0.120 CausalMutation disease CLINVAR
Entrez Id: 84100
Gene Symbol: ARL6
ARL6 		0.100 CausalMutation disease CLINVAR
Entrez Id: 9364
Gene Symbol: RAB28
RAB28 		0.100 CausalMutation disease CLINVAR New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy. 25356532 2015
Entrez Id: 57010
Gene Symbol: CABP4
CABP4 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 9364
Gene Symbol: RAB28
RAB28 		0.100 CausalMutation disease CLINVAR Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy. 23746546 2013
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.100 GeneticVariation disease CLINVAR A photoreceptor cell-specific ATP-binding transporter gene (ABCR) is mutated in recessive Stargardt macular dystrophy. 9054934 1997
Entrez Id: 583
Gene Symbol: BBS2
BBS2 		0.100 CausalMutation disease CLINVAR
Entrez Id: 64802
Gene Symbol: NMNAT1
NMNAT1 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410 		0.100 GeneticVariation disease CLINVAR
Entrez Id: 26504
Gene Symbol: CNNM4
CNNM4 		0.100 CausalMutation disease CLINVAR
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.100 CausalMutation disease CLINVAR Mutations in the ABCA4 (ABCR) gene are the major cause of autosomal recessive cone-rod dystrophy. 10958761 2000
Entrez Id: 26090
Gene Symbol: ABHD12
ABHD12 		0.100 CausalMutation disease CLINVAR
Entrez Id: 375298
Gene Symbol: CERKL
CERKL 		0.100 CausalMutation disease CLINVAR
Entrez Id: 79644
Gene Symbol: SRD5A3
SRD5A3 		0.100 CausalMutation disease CLINVAR
Entrez Id: 24
Gene Symbol: ABCA4
ABCA4 		0.100 GeneticVariation disease CLINVAR Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies. 24265693 2013
Entrez Id: 129880
Gene Symbol: BBS5
BBS5 		0.100 GeneticVariation disease CLINVAR Comparative genomics identifies a flagellar and basal body proteome that includes the BBS5 human disease gene. 15137946 2004
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.160 GeneticVariation disease BEFREE This report describes the clinical course and visual prognosis in two families with cone dystrophy due to RPGR mutations in the 3' terminal region of ORF15. 21866333 2011
Entrez Id: 6103
Gene Symbol: RPGR
RPGR 		0.160 GeneticVariation disease BEFREE The exon ORF15 of RP GTPase regulator (RPGR) is a mutation hot spot for X-linked RP and one form of cone dystrophy. 27620828 2016