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 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 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 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 AlteredExpression disease BEFREE The results suggest that the expression level of CA IV may be important to maintain retina function in RP. 20450258 2010
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: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.210 Biomarker disease BEFREE Carbonic anhydrase IV inhibits colon cancer development by inhibiting the Wnt signalling pathway through targeting the WTAP-WT1-TBL1 axis. 26071132 2016
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: C0339525
Disease: Autosomal dominant retinitis pigmentosa
Autosomal dominant retinitis pigmentosa 		0.030 Biomarker disease BEFREE A search for disease gene linkage revealed that a locus for autosomal dominant retinitis pigmentosa (adRP) known as RP17 resided in that region, and Northern blot analysis showed that hDGK epsilon was expressed in human retina. 10571048 1999
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: C0006118
Disease: Brain Neoplasms
Brain Neoplasms 		0.010 Biomarker group BEFREE Using a murine orthotopic anaplastic astrocytoma model, ALTS1C1, this study showed that brain tumor edge had a very unique microenvironment, having higher microvascular density (MVD) and better vessel function than the tumor core, but on the other hand was also positive for hypoxia markers, such as pimonidazole (PIMO), hypoxia inducible factor-1α (HIF-1α), and carbonic anhydrase IV (CAIX). 31106146 2019
CUI: C0007131
Disease: Non-Small Cell Lung Carcinoma
Non-Small Cell Lung Carcinoma 		0.010 AlteredExpression disease BEFREE Downregulation of carbonic anhydrase IV contributes to promotion of cell proliferation and is associated with poor prognosis in non-small cell lung cancer. 29085519 2017
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 AlteredExpression disease BEFREE Similarly, decreased expression of ca4 mRNA in RCC was associated with poor survival. 9495349 1998
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 PosttranslationalModification disease BEFREE After a median follow-up of 49.3 months, multivariate analysis showed that the patients with CA4 hypermethylation had a recurrence of Stage II/III CRC. 26071132 2016
CUI: C0027059
Disease: Myocarditis
Myocarditis 		0.010 Biomarker disease BEFREE We explored in this study the impact of CAR4/7, a soluble CAR isoform, on CVB3-induced myocarditis in BALB/c mice. 16924471 2006
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.010 Biomarker group BEFREE Using a murine orthotopic anaplastic astrocytoma model, ALTS1C1, this study showed that brain tumor edge had a very unique microenvironment, having higher microvascular density (MVD) and better vessel function than the tumor core, but on the other hand was also positive for hypoxia markers, such as pimonidazole (PIMO), hypoxia inducible factor-1α (HIF-1α), and carbonic anhydrase IV (CAIX). 31106146 2019
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 AlteredExpression disease BEFREE Similarly, decreased expression of ca4 mRNA in RCC was associated with poor survival. 9495349 1998
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma 		0.010 Biomarker disease BEFREE Carbonic anhydrase IV inhibits colon cancer development by inhibiting the Wnt signalling pathway through targeting the WTAP-WT1-TBL1 axis. 26071132 2016
CUI: C1998028
Disease: Photoreceptor degeneration
Photoreceptor degeneration 		0.010 Biomarker disease BEFREE A novel mutation has been identified in CA4 that provides further evidence that impaired pH regulation may underlie photoreceptor degeneration in RP17. 17652713 2007