CA13, carbonic anhydrase 13, 377677

N. diseases: 21; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement
0.100 GeneticVariation phenotype GWASCAT Co-regulatory networks of human serum proteins link genetics to disease. 30072576 2018
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension
0.020 GeneticVariation phenotype BEFREE Plasma MMP-9 concentrations were not affected by genotypes or haplotypes in HP and PE groups, except for the g.-90(CA)13-25 polymorphism: GH patients with the LH genotype for this polymorphism have higher MMP-9 levels than those with other genotypes. 21769110 2012
CUI: C0852036
Disease: Pregnancy associated hypertension
Pregnancy associated hypertension
0.020 GeneticVariation phenotype BEFREE For the g.-90(CA)13-25 polymorphism, no significant differences were found in genotype and allele distributions when PE or GH groups were compared with HP group. 20211160 2010
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.020 Biomarker group BEFREE FISH 13, resulting in a haploinsufficiency of RB1 and other genes mapping to chromosome 13, as well as activation of IGF1R, appears to have an amplifying effect on cell cycle gene expression, thus providing a molecular explanation for the dire outcome of patients with CA 13 compared with those with other CAs. 12531801 2003
CUI: C0008626
Disease: Congenital chromosomal disease
Congenital chromosomal disease
0.020 Biomarker group BEFREE Long-term follow-up on Total Therapy I revealed, with a median follow-up of about 10 years, median durations of event-free survival (EFS) and overall survival (OS) of 37 and 80 mos in the 88% of patients lacking cytogenetic abnormalities (CA) of chromosome 13 compared to only 28 and 34 mos in those with CA 13. 12430877 2002
CUI: C0279672
Disease: Cervical Adenocarcinoma
Cervical Adenocarcinoma
0.010 Biomarker disease BEFREE Seventy-six patients with newly diagnosed uterine cervical cancer (UCC) were studied prior to treatment, including 20 with poorly differentiated (Grade 3) CSC, 23 with moderately differentiated (Grade 2) CSC, 17 with well-differentiated (Grade 1) CSC, and 16 with CA (13 with poorly differentiated (Grade 3) CA and 3 with moderately differentiated (Grade 2) CA). 31071471 2019
CUI: C4048328
Disease: cervical cancer
cervical cancer
0.010 GeneticVariation disease BEFREE Seventy-six patients with newly diagnosed uterine cervical cancer (UCC) were studied prior to treatment, including 20 with poorly differentiated (Grade 3) CSC, 23 with moderately differentiated (Grade 2) CSC, 17 with well-differentiated (Grade 1) CSC, and 16 with CA (13 with poorly differentiated (Grade 3) CA and 3 with moderately differentiated (Grade 2) CA). 31071471 2019
CUI: C0007102
Disease: Malignant tumor of colon
Malignant tumor of colon
0.010 Biomarker disease BEFREE Flow cytometry was used for quantitation of mutation rates at a CA13 microsatellite in human colon cancer (HCT116) cells that had been stably transfected with pIREShyg2-enhanced green fluorescent protein/CA13, a reporter for frameshift mutations. 25429050 2015
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 Biomarker phenotype BEFREE The results showed that the distributions of CA13-/CA13-genotypes were significantly higher in the patients with lymph node metastasis (P<0.05) and distant metastasis (P<0.001); there was a significant difference between NPC patients with stage I+II and those with stage III+IV regarding CA13+/CA13-(P<0.001) and CA13-/CA13- genotypes (P<0.001); further analysis showed a more pronounced difference between NPC patients with stage I+II+III and those with stage IV for CA13-/CA13-genotype (P<0.001), whereas no difference was found for CA13+/CA13- genotype (P=0.790). 26261644 2015
Secondary malignant neoplasm of lymph node
0.010 Biomarker disease BEFREE The results showed that the distributions of CA13-/CA13-genotypes were significantly higher in the patients with lymph node metastasis (P<0.05) and distant metastasis (P<0.001); there was a significant difference between NPC patients with stage I+II and those with stage III+IV regarding CA13+/CA13-(P<0.001) and CA13-/CA13- genotypes (P<0.001); further analysis showed a more pronounced difference between NPC patients with stage I+II+III and those with stage IV for CA13-/CA13-genotype (P<0.001), whereas no difference was found for CA13+/CA13- genotype (P=0.790). 26261644 2015
CUI: C0699790
Disease: Colon Carcinoma
Colon Carcinoma
0.010 Biomarker disease BEFREE Flow cytometry was used for quantitation of mutation rates at a CA13 microsatellite in human colon cancer (HCT116) cells that had been stably transfected with pIREShyg2-enhanced green fluorescent protein/CA13, a reporter for frameshift mutations. 25429050 2015
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.010 Biomarker disease BEFREE The results showed that the distributions of CA13-/CA13-genotypes were significantly higher in the patients with lymph node metastasis (P<0.05) and distant metastasis (P<0.001); there was a significant difference between NPC patients with stage I+II and those with stage III+IV regarding CA13+/CA13-(P<0.001) and CA13-/CA13- genotypes (P<0.001); further analysis showed a more pronounced difference between NPC patients with stage I+II+III and those with stage IV for CA13-/CA13-genotype (P<0.001), whereas no difference was found for CA13+/CA13- genotype (P=0.790). 26261644 2015
OSSIFICATION OF THE POSTERIOR LONGITUDINAL LIGAMENT OF SPINE
0.010 Biomarker disease BEFREE The numbers of microsatellites (CA(13) and CA(15)) were significantly changed in the OPLL patients. 23061992 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 Biomarker disease BEFREE Although no relation between plasma IGF-I levels and IGF-I genotypes was found, women who carried the genotypes containing the (CA)17 or (CA)19 allele were associated with a significantly decreased (OR = 0.80, 95% CI: 0.64-1.00) or increased (OR = 1.23, 95% CI: 1.04-1.47) risk of breast cancer, respectively, and women who carried the genotypes containing any of the 4 rare alleles, (CA)11, (CA)13, (CA)16 and (CA)23, were associated with a nonsignificantly increased risk of breast cancer (OR = 1.92, 95% CI: 0.92-4.02) compared to those who did not carry the specific alleles. 15386404 2005
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis
0.010 GeneticVariation disease BEFREE Men carriers of I1(761)*CA13, which is in strong linkage disequilibrium with the 3'(325)*A, have increased susceptibility (P=0.050; OR: 2.22, 95% CI: 0.98-5.40), while men carriers of I1(761)*CA12 have decreased susceptibility (P=0.022; OR: 0.46, 95% CI: 0.23-0.90) to MS in the USA. 15674394 2005
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.010 GeneticVariation disease BEFREE An association between c.1092+3607(CA)(13-27) and c.172(CAG)(8-34) repeat polymorphisms of the ER-beta and AR genes and knee OA was found in individuals of Greek descent. 16098017 2005
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 Biomarker disease BEFREE To assess if a polymorphism (PM) of the microsatellite (CA(13-27)) in the promoter region of Matrix Metalloproteinase 9 (MMP-9) was associated with the exudative form of age-related macular degeneration (AMD) and to its risk factors. 15834245 2005
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 Biomarker disease BEFREE Although no relation between plasma IGF-I levels and IGF-I genotypes was found, women who carried the genotypes containing the (CA)17 or (CA)19 allele were associated with a significantly decreased (OR = 0.80, 95% CI: 0.64-1.00) or increased (OR = 1.23, 95% CI: 1.04-1.47) risk of breast cancer, respectively, and women who carried the genotypes containing any of the 4 rare alleles, (CA)11, (CA)13, (CA)16 and (CA)23, were associated with a nonsignificantly increased risk of breast cancer (OR = 1.92, 95% CI: 0.92-4.02) compared to those who did not carry the specific alleles. 15386404 2005
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma
0.010 Biomarker disease BEFREE Although present in considerably fewer patients, CA 13 imparted more rapid relapse (61% at 3 years) and death (43% at 3 years) than FISH 13 (38% and 35%; P = 0.02 and 0.1 respectively) and should be part of the initial work-up of patients with MM. 12492575 2003
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE CA 13 was detected in 14% and significantly correlated with FISH 13 (present in 51%), tumour burden, proliferative activity and lactic dehydrogenase (LDH). 12492575 2003
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.010 Biomarker disease BEFREE When we used these markers in a HA lineage where the mother was a carrier according to coagulation factor assays, carrier diagnosis was possible using CA-13, the HindIII RFLP, and the BclI RFLP. 11927134 2002
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 GeneticVariation disease BEFREE We therefore conducted a case-control study of a microsatellite marker with five alleles (CA13-CA17) in intron 4 of TNFRSF1B in 1006 well-characterized white patients with angiographically confirmed CAD and a control group of 183 healthy subjects. 11357933 2001
CUI: C0025202
Disease: melanoma
melanoma
0.010 Biomarker disease BEFREE Microsatellite analysis of melanoma lesions using (CA)13 oligonucleotides as an internal probe. 10995892 2000