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 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 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 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 Molecular characterization of retinitis pigmentosa in Saudi Arabia. 19956407 2009
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 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 Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. 15863674 2005
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 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 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 Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. 10484783 1999
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: 6101
Gene Symbol: RP1
RP1 		0.900 CausalMutation disease CLINVAR
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: 9131
Gene Symbol: AIFM1
AIFM1 		0.200 Therapeutic disease RGD Inhibitory peptide of mitochondrial μ-calpain protects against photoreceptor degeneration in rhodopsin transgenic S334ter and P23H rats. 23951212 2013
Entrez Id: 9365
Gene Symbol: KL
KL 		0.200 Biomarker disease RGD Retinitis Pigmentosa: over-expression of anti-ageing protein Klotho in degenerating photoreceptors. 23796581 2013
Entrez Id: 5728
Gene Symbol: PTEN
PTEN 		0.200 ModifyingMutation disease RGD ER stress in retinal degeneration in S334ter Rho rats. 22432009 2012
Entrez Id: 4502
Gene Symbol: MT2A
MT2A 		0.200 Biomarker disease RGD Altered expression of metallothionein-I and -II and their receptor megalin in inherited photoreceptor degeneration. 20357188 2010
Entrez Id: 4803
Gene Symbol: NGF
NGF 		0.200 Biomarker disease RGD Nerve growth factor in the developing and adult lacrimal glands of rat with and without inherited retinitis pigmentosa. 20595895 2010
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: 7401
Gene Symbol: CLRN1
CLRN1 		0.200 Biomarker disease RGD Usher syndrome type III: revised genomic structure of the USH3 gene and identification of novel mutations. 12145752 2002