CA4, carbonic anhydrase 4, 762

N. diseases: 45; N. variants: 4
Disease: Retinitis Pigmentosa 17 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104894559
rs104894559
Entrez Id: 762
Gene Symbol: CA4
CA4
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
dbSNP: rs104894559
rs104894559
Entrez Id: 762
Gene Symbol: CA4
CA4
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
dbSNP: rs104894559
rs104894559
Entrez Id: 762
Gene Symbol: CA4
CA4
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
dbSNP: rs104894559
rs104894559
Entrez Id: 762
Gene Symbol: CA4
CA4
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
dbSNP: rs104894559
rs104894559
Entrez Id: 762
Gene Symbol: CA4
CA4
CUI: C1833245
Disease:
Retinitis Pigmentosa 17 		0.820 GeneticVariation UNIPROT Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. 15563508 2005
dbSNP: rs104894559
rs104894559
Entrez Id: 762
Gene Symbol: CA4
CA4
CUI: C1833245
Disease:
Retinitis Pigmentosa 17 		T 0.820 CausalMutation CLINVAR
dbSNP: rs1245199379
rs1245199379
Entrez Id: 762
Gene Symbol: CA4
CA4
CUI: C1833245
Disease:
Retinitis Pigmentosa 17 		0.700 GeneticVariation UNIPROT Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients. 20450258 2010
dbSNP: rs1245199379
rs1245199379
Entrez Id: 762
Gene Symbol: CA4
CA4
CUI: C1833245
Disease:
Retinitis Pigmentosa 17 		0.700 GeneticVariation UNIPROT Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa. 17652713 2007
dbSNP: rs1245199379
rs1245199379
Entrez Id: 762
Gene Symbol: CA4
CA4
CUI: C1833245
Disease:
Retinitis Pigmentosa 17 		0.700 GeneticVariation UNIPROT Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. 15563508 2005
dbSNP: rs121434551
rs121434551
Entrez Id: 762
Gene Symbol: CA4
CA4
CUI: C1833245
Disease:
Retinitis Pigmentosa 17 		A 0.700 CausalMutation CLINVAR
dbSNP: rs121434552
rs121434552
Entrez Id: 762
Gene Symbol: CA4
CA4
CUI: C1833245
Disease:
Retinitis Pigmentosa 17 		A 0.700 CausalMutation CLINVAR