CA4, carbonic anhydrase 4, 762

N. diseases: 45; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		0.740 GeneticVariation disease BEFREE Missense mutations in the carbonic anhydrase IV (CA IV) gene have been identified in patients with an autosomal dominant form of retinitis pigmentosa (RP17). 19211803 2009
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		0.740 GeneticVariation disease BEFREE Finally, a possible link to the retinitis pigmentosa 17 allele (RP17) at distal 17q was excluded by demonstration of multiple independent segregation events in two RP17 kindreds. 10783262 2000
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		0.740 GeneticVariation disease UNIPROT Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa. 17652713 2007
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		0.740 GeneticVariation disease BEFREE Cell-specific differences in the processing of the R14W CAIV mutant associated with retinitis pigmentosa 17. 20626030 2010
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		0.740 GeneticVariation disease UNIPROT Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients. 20450258 2010
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		0.740 GeneticVariation disease UNIPROT Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration. 15563508 2005
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		0.740 GeneticVariation disease BEFREE Chemical chaperones protect from effects of apoptosis-inducing mutation in carbonic anhydrase IV identified in retinitis pigmentosa 17. 15295099 2004
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.470 GeneticVariation disease BEFREE Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 15090652 2004
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.470 GeneticVariation disease LHGDN Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa. 17652713 2007
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.470 GeneticVariation disease BEFREE Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa. 17652713 2007
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.470 GeneticVariation disease BEFREE These experiments suggest a promising approach to treatment of RP17 that might delay the onset or possibly prevent this autosomal dominant form of RP. 15295099 2004
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.470 GeneticVariation disease BEFREE In order to determine the prevalence of rhodopsin alterations in southern French populations, we examined 52 unrelated patients/families with autosomal dominant RP (adRP=29), RP simplex (6), or unclassified RP (17). 10521250 1999
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.470 GeneticVariation disease BEFREE Retinitis pigmentosa locus on 17q (RP17): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes. 9385361 1997
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.470 GeneticVariation disease LHGDN Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 15090652 2004
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.470 GeneticVariation disease BEFREE Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV. 19211803 2009
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		0.030 GeneticVariation disease BEFREE Refinement of the RP17 locus for autosomal dominant retinitis pigmentosa, construction of a YAC contig and investigation of the candidate gene retinal fascin. 10234509 1999
CUI: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		0.030 GeneticVariation disease BEFREE A total of 96 patients with simplex RP and adRP of Chinese ethnicity were screened for mutations in the eight coding exons of the CA4 gene by bidirectional sequencing. 17652713 2007
CUI: C0004943
Disease: Behcet Syndrome
Behcet Syndrome 		0.010 GeneticVariation disease 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
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		0.740 Biomarker disease GENOMICS_ENGLAND
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		0.740 Biomarker disease CTD_human
CUI: C1833245
Disease: Retinitis Pigmentosa 17
Retinitis Pigmentosa 17 		0.740 Biomarker disease GENOMICS_ENGLAND Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 15090652 2004
CUI: C0035334
Disease: Retinitis Pigmentosa
Retinitis Pigmentosa 		0.470 Biomarker disease GENOMICS_ENGLAND Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 15090652 2004
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa. 15090652 2004
CUI: C0015397
Disease: Disorder of eye
Disorder of eye 		0.300 Biomarker group GENOMICS_ENGLAND