Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.950 CausalMutation CLINVAR

Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.950 GeneticVariation CLINVAR

Entrez Id: 100616530
Gene Symbol: C8orf37-AS1
C8orf37-AS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 GeneticVariation CLINVAR

Entrez Id: 100616530
Gene Symbol: C8orf37-AS1
C8orf37-AS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 CausalMutation CLINVAR

Entrez Id: 762
Gene Symbol: CA4
CA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.470 CausalMutation CLINVAR Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 15090652

2004
Entrez Id: 762
Gene Symbol: CA4
CA4
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.470 CausalMutation CLINVAR Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. 15563508

2005
Entrez Id: 64072
Gene Symbol: CDH23
CDH23
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.130 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 102723377
Gene Symbol: CDH23-AS1
CDH23-AS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.400 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 92211
Gene Symbol: CDHR1
CDHR1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.400 GeneticVariation CLINVAR

Entrez Id: 80184
Gene Symbol: CEP290
CEP290
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.150 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.490 GeneticVariation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.490 CausalMutation CLINVAR The efficacy of microarray screening for autosomal recessive retinitis pigmentosa in routine clinical practice. 25999674

2015
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.490 CausalMutation CLINVAR Mutation screening of multiple genes in Spanish patients with autosomal recessive retinitis pigmentosa by targeted resequencing. 22164218

2011
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.490 CausalMutation CLINVAR Mutation analysis of 272 Spanish families affected by autosomal recessive retinitis pigmentosa using a genotyping microarray. 21151602

2010
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.490 CausalMutation CLINVAR Whole genome sequencing in patients with retinitis pigmentosa reveals pathogenic DNA structural changes and NEK2 as a new disease gene. 24043777

2013
Entrez Id: 375298
Gene Symbol: CERKL
CERKL
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.490 CausalMutation CLINVAR Mutation of CERKL, a novel human ceramide kinase gene, causes autosomal recessive retinitis pigmentosa (RP26). 14681825

2004
Entrez Id: 755
Gene Symbol: CFAP410
CFAP410
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.110 GeneticVariation CLINVAR

Entrez Id: 1121
Gene Symbol: CHM
CHM
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.440 CausalMutation CLINVAR Molecular genetic analysis using targeted NGS analysis of 677 individuals with retinal dystrophy. 30718709

2019
Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.410 CausalMutation CLINVAR

Entrez Id: 1201
Gene Symbol: CLN3
CLN3
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.410 GeneticVariation CLINVAR Next generation sequencing-based molecular diagnosis of retinitis pigmentosa: identification of a novel genotype-phenotype correlation and clinical refinements. 24154662

2014
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.660 CausalMutation CLINVAR USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. 12080385

2002
Entrez Id: 7401
Gene Symbol: CLRN1
CLRN1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.660 GeneticVariation CLINVAR USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. 12080385

2002
Entrez Id: 116933
Gene Symbol: CLRN1-AS1
CLRN1-AS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 CausalMutation CLINVAR USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. 12080385

2002
Entrez Id: 116933
Gene Symbol: CLRN1-AS1
CLRN1-AS1
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.100 GeneticVariation CLINVAR USH3A transcripts encode clarin-1, a four-transmembrane-domain protein with a possible role in sensory synapses. 12080385

2002