RP1, RP1 axonemal microtubule associated, 6101

N. diseases: 57; N. variants: 56
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
0.900 Biomarker disease MGD A murine RP1 missense mutation causes protein mislocalization and slowly progressive photoreceptor degeneration. 25088982 2014
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
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
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
0.900 GeneticVariation disease UNIPROT Next-generation genetic testing for retinitis pigmentosa. 22334370 2012
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
0.900 GeneticVariation disease UNIPROT Differential pattern of RP1 mutations in retinitis pigmentosa. 20664799 2010
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
0.900 GeneticVariation disease UNIPROT Molecular characterization of retinitis pigmentosa in Saudi Arabia. 19956407 2009
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
0.900 Biomarker disease MGD Essential and synergistic roles of RP1 and RP1L1 in rod photoreceptor axoneme and retinitis pigmentosa. 19657028 2009
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
0.900 GeneticVariation disease UNIPROT A novel missense RP1 mutation in retinitis pigmentosa. 15933747 2006
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
0.900 GeneticVariation disease UNIPROT Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. 15863674 2005
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
0.900 Biomarker disease GENOMICS_ENGLAND Novel association of RP1 gene mutations with autosomal recessive retinitis pigmentosa. 15863674 2005
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
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
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
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
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
0.900 GeneticVariation disease UNIPROT RP1 protein truncating mutations predominate at the RP1 adRP locus. 11095597 2000
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
0.900 GeneticVariation disease UNIPROT Mutations in the RP1 gene causing autosomal dominant retinitis pigmentosa. 10484783 1999
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
0.900 GeneticVariation disease UNIPROT Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. 10391211 1999
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
0.900 GeneticVariation disease CLINVAR Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa. 10391211 1999
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
0.900 CausalMutation disease CLINVAR
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
0.900 Biomarker disease GENOMICS_ENGLAND
CUI: C0220701
Disease: RETINITIS PIGMENTOSA 1
RETINITIS PIGMENTOSA 1
0.900 Biomarker disease CTD_human
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.500 CausalMutation disease CLINVAR Impact of whole exome sequencing among Iranian patients with autosomal recessive retinitis pigmentosa. 26497376 2015
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.500 GeneticVariation disease BEFREE Mutations in the RP1 gene can cause retinitis pigmentosa. 25088982 2014
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.500 CausalMutation 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
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.500 GeneticVariation disease LHGDN Variants of RP1 gene in Chinese patients with autosomal dominant retinitis pigmentosa. 18347624 2008
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.500 GeneticVariation disease LHGDN Retinitis pigmentosa: mutation analysis of RHO, PRPF31, RP1, and IMPDH1 genes in patients from India. 18552984 2008
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.500 GeneticVariation disease LHGDN Novel variants in the hotspot region of RP1 in South African patients with retinitis pigmentosa. 16568030 2006
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa
0.500 CausalMutation disease CLINVAR Three novel and the common Arg677Ter RP1 protein truncating mutations causing autosomal dominant retinitis pigmentosa in a Spanish population. 16597330 2006