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: 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: 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: 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: 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: 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: 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: 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
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: 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: 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: 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 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 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: C0009398
Disease: Color vision defect
Color vision defect 		0.100 Biomarker phenotype HPO
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.100 Biomarker disease HPO
CUI: C0017601
Disease: Glaucoma
Glaucoma 		0.100 Biomarker disease HPO
CUI: C0018777
Disease: Conductive hearing loss
Conductive hearing loss 		0.100 Biomarker disease HPO
CUI: C0018784
Disease: Sensorineural Hearing Loss (disorder)
Sensorineural Hearing Loss (disorder) 		0.100 Biomarker disease HPO
CUI: C0020459
Disease: Hyperinsulinism
Hyperinsulinism 		0.100 Biomarker disease HPO
CUI: C0020619
Disease: Hypogonadism
Hypogonadism 		0.100 Biomarker disease HPO
CUI: C0022578
Disease: Keratoconus
Keratoconus 		0.100 Biomarker disease HPO
CUI: C0028077
Disease: Nyctalopia
Nyctalopia 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease HPO
CUI: C0029089
Disease: Ophthalmoplegia
Ophthalmoplegia 		0.100 Biomarker phenotype HPO