Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 GeneticVariation disease UNIPROT Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. 15863674 2005
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 GeneticVariation disease UNIPROT A novel missense RP1 mutation in retinitis pigmentosa. 15933747 2006
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 GeneticVariation disease UNIPROT Molecular characterization of retinitis pigmentosa in Saudi Arabia. 19956407 2009
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 GeneticVariation disease UNIPROT Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. 10484783 1999
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 GeneticVariation disease UNIPROT RP1 and autosomal dominant rod-cone dystrophy: novel mutations, a review of published variants, and genotype-phenotype correlation. 22052604 2012
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 GeneticVariation disease UNIPROT RP1 protein truncating mutations predominate at the RP1 adRP locus. 11095597 2000
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 GeneticVariation disease UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 GeneticVariation disease UNIPROT Differential pattern of RP1 mutations in retinitis pigmentosa. 20664799 2010
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 GeneticVariation disease UNIPROT Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. 10391211 1999
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 GeneticVariation disease CLINVAR Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. 10391211 1999
Entrez Id: 6010
Gene Symbol: RHO
RHO 		0.010 GeneticVariation disease BEFREE The two known loci for ADCA type I (spinal cerebellar ataxia 1 and 2) were excluded, as were candidate loci, retinitis pigmentosa 1 locus (RP1) and the genes for rhodopsin and peripherin-rds, responsible for autosomal dominant retinitis pigmentosa. 8154871 1994
Entrez Id: 23203
Gene Symbol: PMPCA
PMPCA 		0.010 GeneticVariation disease BEFREE The two known loci for ADCA type I (spinal cerebellar ataxia 1 and 2) were excluded, as were candidate loci, retinitis pigmentosa 1 locus (RP1) and the genes for rhodopsin and peripherin-rds, responsible for autosomal dominant retinitis pigmentosa. 8154871 1994
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 Biomarker disease GENOMICS_ENGLAND Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. 15863674 2005
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 Biomarker disease MGD Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. 19657028 2009
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 Biomarker disease MGD Disruption of the Rp1 gene in mice causes misorientation of outer segment discs, suggesting a role for RP1 in outer segment organization. 15269252 2004
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 Biomarker disease MGD Progressive photoreceptor degeneration, outer segment dysplasia, and rhodopsin mislocalization in mice with targeted disruption of the retinitis pigmentosa-1 (Rp1) gene. 11960024 2002
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 Biomarker disease MGD A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration. 25088982 2014
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 6101
Gene Symbol: RP1
RP1 		0.900 Biomarker disease CTD_human
Entrez Id: 5145
Gene Symbol: PDE6A
PDE6A 		0.200 Biomarker disease MGD
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B 		0.200 Biomarker disease RGD Alterations in NMDA receptor expression during retinal degeneration in the RCS rat. 11925013 2002
Entrez Id: 285331
Gene Symbol: CCDC66
CCDC66 		0.200 Biomarker disease MGD
Entrez Id: 10283
Gene Symbol: CWC27
CWC27 		0.200 Biomarker disease MGD
Entrez Id: 5158
Gene Symbol: PDE6B
PDE6B 		0.200 Biomarker disease MGD
Entrez Id: 157657
Gene Symbol: C8orf37
C8orf37 		0.200 Biomarker disease MGD