CA8, carbonic anhydrase 8, 767

N. diseases: 87; N. variants: 7
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma 		0.010 Biomarker disease BEFREE Here, we found the differential mRNA expression and copy number variation (CNV) of Carbonic anhydrase-related protein VIII (CA8) gene in RCC through integrated bioinformatics analysis of TCGA database, which was confirmed in 5 cases of samples collected from RCC patients who underwent radical nephrectomy by analysis of CA8 mRNA and protein levels using RT-PCR immunohistochemical assay. 31715371 2020
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 Biomarker disease BEFREE Here, we found the differential mRNA expression and copy number variation (CNV) of Carbonic anhydrase-related protein VIII (CA8) gene in RCC through integrated bioinformatics analysis of TCGA database, which was confirmed in 5 cases of samples collected from RCC patients who underwent radical nephrectomy by analysis of CA8 mRNA and protein levels using RT-PCR immunohistochemical assay. 31715371 2020
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma 		0.010 AlteredExpression disease BEFREE Previously, we have shown a significant increase in the expression of carbonic anhydrase VIII (CA8) in SK-N-SH-MJD78 cells, which are human neuroblastoma cells overexpressing mutant ataxin-3 with 78 glutamine repeats. 31157458 2019
CUI: C0700095
Disease: Central neuroblastoma
Central neuroblastoma 		0.010 AlteredExpression disease BEFREE Previously, we have shown a significant increase in the expression of carbonic anhydrase VIII (CA8) in SK-N-SH-MJD78 cells, which are human neuroblastoma cells overexpressing mutant ataxin-3 with 78 glutamine repeats. 31157458 2019
CUI: C4086165
Disease: Childhood Neuroblastoma
Childhood Neuroblastoma 		0.010 AlteredExpression disease BEFREE Previously, we have shown a significant increase in the expression of carbonic anhydrase VIII (CA8) in SK-N-SH-MJD78 cells, which are human neuroblastoma cells overexpressing mutant ataxin-3 with 78 glutamine repeats. 31157458 2019
CUI: C0004114
Disease: Astrocytoma
Astrocytoma 		0.010 Biomarker disease BEFREE There are no reports on CARPs in human astrocytomas or oligodendroglial tumors. 29792187 2018
CUI: C0028945
Disease: oligodendroglioma
oligodendroglioma 		0.010 Biomarker disease BEFREE In WHO grade II-IV astrocytomas, CARPs were associated with molecular events related to more benign behavior, which was the case with CARP VIII in oligodendrogliomas and oligoastrocytomas as well. 29792187 2018
CUI: C0162672
Disease: MERRF Syndrome
MERRF Syndrome 		0.010 PosttranslationalModification disease BEFREE Furthermore, our data indicate that chromatin structure may be involved in the expression of hCA8 gene in MERRF cybrids. 29407793 2018
CUI: C0751396
Disease: Well Differentiated Oligodendroglioma
Well Differentiated Oligodendroglioma 		0.010 Biomarker disease BEFREE In WHO grade II-IV astrocytomas, CARPs were associated with molecular events related to more benign behavior, which was the case with CARP VIII in oligodendrogliomas and oligoastrocytomas as well. 29792187 2018
CUI: C1854369
Disease: Spinocerebellar ataxia 14
Spinocerebellar ataxia 14 		0.010 GeneticVariation disease BEFREE Carbonic anhydrase related protein 8 (Car8) encoding CAR8 and Itpr1 encoding IP3R1were identified as upregulated genes in one of SCA14 mouse model. 28554312 2018
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 Biomarker group BEFREE Cationic arginine-rich and poly-arginine peptides (referred to as CARPs) have potent neuroprotective properties in in vitro excitotoxicity and in vivo models of stroke. 29177102 2017
CUI: C0563625
Disease: Agnosia for Pain
Agnosia for Pain 		0.010 Biomarker disease BEFREE Our work quantifies for the first time analgesia and antihyperalgesia in an inflammatory pain model after DRG transduction by CA8 gene therapy. 28902707 2017
CUI: C0029463
Disease: Osteosarcoma
Osteosarcoma 		0.010 AlteredExpression disease BEFREE In the present study, we observed increased expression of CA8 in more aggressive types of human osteosarcoma (OS) cells and found that CA8 expression is correlated with disease stages, such that more intense expression occurs in the disease late stage. 26711783 2016
CUI: C0585442
Disease: Osteosarcoma of bone
Osteosarcoma of bone 		0.010 AlteredExpression disease BEFREE In the present study, we observed increased expression of CA8 in more aggressive types of human osteosarcoma (OS) cells and found that CA8 expression is correlated with disease stages, such that more intense expression occurs in the disease late stage. 26711783 2016
CUI: C1332986
Disease: Childhood Osteosarcoma
Childhood Osteosarcoma 		0.010 AlteredExpression disease BEFREE In the present study, we observed increased expression of CA8 in more aggressive types of human osteosarcoma (OS) cells and found that CA8 expression is correlated with disease stages, such that more intense expression occurs in the disease late stage. 26711783 2016
CUI: C0013384
Disease: Dyskinetic syndrome
Dyskinetic syndrome 		0.010 GeneticVariation disease BEFREE Knockdown of the ca8 gene results in an abnormal movement pattern in zebrafish. 24794067 2014
CUI: C0699791
Disease: Stomach Carcinoma
Stomach Carcinoma 		0.010 GeneticVariation disease BEFREE It displayed that the TT genotype of rs2297882 in the CARP gene was associated with an increased risk of gastric carcinoma. 24870804 2014
CUI: C0948444
Disease: Mitochondrial DNA mutation
Mitochondrial DNA mutation 		0.010 GeneticVariation disease BEFREE Effects of carbonic anhydrase-related protein VIII on human cells harbouring an A8344G mitochondrial DNA mutation. 24476000 2014
CUI: C0025362
Disease: Mental Retardation
Mental Retardation 		0.010 GeneticVariation disease BEFREE Recent reports have shown that mutations in the CA8 gene are associated with mental retardation and ataxia in humans and ataxia in mice. 23087022 2013
CUI: C0403559
Disease: Dialysis disequilibrium syndrome
Dialysis disequilibrium syndrome 		0.010 GeneticVariation disease BEFREE We define the neurological characteristics of familial cases from multiple branches of a large consanguineous family with cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome type 3 caused by a mutation in the recently cloned CA8 gene. 21812104 2011
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		0.010 Biomarker disease BEFREE CARP abnormalities may be involved in the pathogenesis of HCM. 19608031 2009
CUI: C0029456
Disease: Osteoporosis
Osteoporosis 		0.010 GeneticVariation disease BEFREE Nucleotide variations in genes encoding carbonic anhydrase 8 and 10 associated with femoral bone mineral density in Japanese female with osteoporosis. 19172221 2009
CUI: C1449563
Disease: Cardiomyopathy, Familial Idiopathic
Cardiomyopathy, Familial Idiopathic 		0.010 GeneticVariation disease BEFREE On the basis of genetic and functional analysis of CARP mutations, we have identified ANKRD1 as a new gene associated with DCM, accounting for approximately 2% of cases. 19525294 2009
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon 		0.010 Biomarker disease BEFREE Further, small interfering RNA (siRNA)-mediated knockdown of CA-RP VIII revealed significant inhibition in cell proliferation and colony formation of a colon cancer cell line HCT116, which showed high endogenous expression of CA-RP VIII. 17219437 2007
CUI: C0009375
Disease: Colonic Neoplasms
Colonic Neoplasms 		0.010 AlteredExpression group LHGDN Carbonic anhydrase-related protein VIII promotes colon cancer cell growth. 17219437 2007