rs104894559, CA4

N. diseases: 3
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Retinitis Pigmentosa 17
CUI: C1833245
Disease: Retinitis Pigmentosa 17
0.820 GeneticVariation UNIPROT Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients. 20450258 2010
Retinitis Pigmentosa 17
CUI: C1833245
Disease: Retinitis Pigmentosa 17
0.820 GeneticVariation BEFREE Cell-specific differences in the processing of the R14W CAIV mutant associated with retinitis pigmentosa 17. 20626030 2010
Retinitis Pigmentosa 17
CUI: C1833245
Disease: Retinitis Pigmentosa 17
0.820 GeneticVariation BEFREE These properties are similar to those of R14W CA IV, the signal sequence variant found in the original patients with RP17. 19211803 2009
Retinitis Pigmentosa 17
CUI: C1833245
Disease: Retinitis Pigmentosa 17
0.820 GeneticVariation UNIPROT Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa. 17652713 2007
Retinitis Pigmentosa 17
CUI: C1833245
Disease: Retinitis Pigmentosa 17
0.820 GeneticVariation UNIPROT Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. 15563508 2005
Retinitis Pigmentosa 17
CUI: C1833245
Disease: Retinitis Pigmentosa 17
0.820 CausalMutation CLINVAR
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.710 CausalMutation CLINVAR Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. 15563508 2005
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.710 CausalMutation CLINVAR Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 15090652 2004
Retinitis Pigmentosa
CUI: C0035334
Disease: Retinitis Pigmentosa
0.710 GeneticVariation BEFREE In collaboration with scientists at the University of Cape Town (Rondebosch, South Africa), we recently showed that the R14W mutation in the signal sequence of CA IV, which they identified in patients with the retinitis pigmentosa (RP) 17 form of autosomal dominant RP, results in accumulation of unfolded protein in the endoplasmic reticulum (ER), leading to ER stress, the unfolded protein response, and apoptosis in a large fraction of transfected COS-7 cells expressing mutant, but not wild-type, CA IV. 15295099 2004
Behcet Syndrome
CUI: C0004943
Disease: Behcet Syndrome
0.010 GeneticVariation BEFREE The CAIV p.R14W sequence variant found in one of the patients with a BD phenotype is a benign polymorphism in a population of northern Sweden. 18344446 2008