rs104894559, CA4

N. diseases: 3
Disease: Retinitis Pigmentosa 17 ×
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