KLHL2, kelch like family member 2, 11275

N. diseases: 18; N. variants: 1
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021704
Disease: Intelligence
Intelligence
0.100 GeneticVariation phenotype GWASCAT Study of 300,486 individuals identifies 148 independent genetic loci influencing general cognitive function. 29844566 2018
CUI: C0275518
Disease: Acute infectious disease
Acute infectious disease
0.020 Biomarker group BEFREE We used mice deficient in all three immunoproteasome subunits (triple-knockout [TKO] mice) to determine whether immunoproteasome activity is essential for control of MAV-1 replication or inflammatory responses to acute infection. 31092582 2019
CUI: C0032285
Disease: Pneumonia
Pneumonia
0.020 AlteredExpression disease BEFREE Histological evidence of pulmonary inflammation was similar in B6 and lpr mice, but lung mRNA levels and airway proinflammatory cytokine concentrations were lower in MAV-1-infected lpr mice compared to infected B6 mice. 29908447 2018
CUI: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections
0.020 Biomarker group BEFREE FasL and Fas expression were increased in the lungs of C57BL/6 (B6) mice during MAV-1 respiratory infection. 29908447 2018
CUI: C0275518
Disease: Acute infectious disease
Acute infectious disease
0.020 AlteredExpression group BEFREE We detected MAV-1 in adipose tissue during acute MAV-1 infection, but we did not detect virus-induced increases in adipose tissue cytokine expression or histological evidence of adipose tissue inflammation during acute infection. 29141203 2018
CUI: C3714636
Disease: Pneumonitis
Pneumonitis
0.020 AlteredExpression disease BEFREE Histological evidence of pulmonary inflammation was similar in B6 and lpr mice, but lung mRNA levels and airway proinflammatory cytokine concentrations were lower in MAV-1-infected lpr mice compared to infected B6 mice. 29908447 2018
CUI: C0014038
Disease: Encephalitis
Encephalitis
0.020 Biomarker disease BEFREE The findings highlight the complex nature of encephalitis and suggests that IL-1 has a protective effect for the development of MAV-1-induced encephalitis. 27903802 2017
CUI: C0014038
Disease: Encephalitis
Encephalitis
0.020 AlteredExpression disease BEFREE These results indicate that increased MMP activity in the brains of MAV-1-infected susceptible mice may be due to MMP activity produced by endothelial cells, astrocytes, and microglia, which in turn may contribute to BBB disruption and encephalitis in susceptible mice.<b>IMPORTANCE</b> RNA and DNA viruses can cause encephalitis; in some cases, this is accompanied by MMP-mediated disruption of the BBB. 28053109 2017
CUI: C0032285
Disease: Pneumonia
Pneumonia
0.020 Biomarker disease BEFREE CD8 T cells promote MAV-1-induced pulmonary inflammation via a mechanism that is independent of direct antiviral effects. 28410483 2017
CUI: C0035243
Disease: Respiratory Tract Infections
Respiratory Tract Infections
0.020 Biomarker group BEFREE We used mouse adenovirus type 1 (MAV-1) to define CD8 T cell contributions to the pathogenesis of adenovirus respiratory infection. 28410483 2017
CUI: C0679427
Disease: myeloblastosis
myeloblastosis
0.020 Biomarker disease BEFREE Myeloblastosis-associated virus 2 (MAV-2) is a highly tumorigenic simple avian retrovirus. 28768863 2017
CUI: C3714636
Disease: Pneumonitis
Pneumonitis
0.020 Biomarker disease BEFREE CD8 T cells promote MAV-1-induced pulmonary inflammation via a mechanism that is independent of direct antiviral effects. 28410483 2017
CUI: C0679427
Disease: myeloblastosis
myeloblastosis
0.020 Biomarker disease BEFREE The molecularly cloned myeloblastosis-associated virus type-1(N) (MAV-1(N)) strain induces specifically nephroblastomas in chicken. 14599793 2003
CUI: C0028754
Disease: Obesity
Obesity
0.010 Biomarker disease BEFREE Our data indicate that MAV-1 is not associated with obesity in infected mice. 29141203 2018
CUI: C0023903
Disease: Liver neoplasms
Liver neoplasms
0.010 Biomarker group BEFREE Here we report the results of molecular analyses of MAV-2-induced liver tumors that fall into three classes: hepatic hemangiosarcomas (HHSs), intrahepatic cholangiocarcinomas (ICCs), and hepatocellular carcinomas (HCCs). 28768863 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 Biomarker group BEFREE The structures of truncated <i>EGFR</i> and <i>RON</i> closely mimic the structures of oncogenic variants of these genes frequently found in human tumors (<i>EGFRvIII</i> and <i>sfRON</i>).<b>IMPORTANCE</b> These data describe the mechanisms of oncogenesis induced in chickens by the MAV-2 retrovirus. 28768863 2017
CUI: C0243010
Disease: Viral Encephalitis
Viral Encephalitis
0.010 Biomarker group BEFREE MAV-1 produces viral encephalitis in its natural host, providing a good model for studying factors involved in encephalitis development. 27903802 2017
CUI: C0345905
Disease: Intrahepatic Cholangiocarcinoma
Intrahepatic Cholangiocarcinoma
0.010 Biomarker disease BEFREE Here we report the results of molecular analyses of MAV-2-induced liver tumors that fall into three classes: hepatic hemangiosarcomas (HHSs), intrahepatic cholangiocarcinomas (ICCs), and hepatocellular carcinomas (HCCs). 28768863 2017
CUI: C1449844
Disease: Pseudohypoaldosteronism, Type II
Pseudohypoaldosteronism, Type II
0.010 GeneticVariation disease BEFREE Mutations in KLHL2 have not been reported in patients with PHAII, suggesting that KLHL2 plays a different physiological role than that played by KLHL3 in the kidney. 28414128 2017
CUI: C1842981
Disease: NEUROTICISM
NEUROTICISM
0.010 AlteredExpression disease BEFREE The temporal expression analysis revealed that the neuroticism-associated genes were divided into three expression patterns: KLHL2, CELF4 and CRHR1 were preferentially expressed during postnatal stages; PTPRD, ELAVL2 and MFHAS1 were expressed during prenatal stages; and the other three genes were not expressed during specific life stages. 28433457 2017
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma
0.010 Biomarker disease BEFREE Here we report the results of molecular analyses of MAV-2-induced liver tumors that fall into three classes: hepatic hemangiosarcomas (HHSs), intrahepatic cholangiocarcinomas (ICCs), and hepatocellular carcinomas (HCCs). 28768863 2017
Hyperkalemic Mineralocorticoid Resistance
0.010 GeneticVariation disease BEFREE Mutations in KLHL2 have not been reported in patients with PHAII, suggesting that KLHL2 plays a different physiological role than that played by KLHL3 in the kidney. 28414128 2017
CUI: C0041296
Disease: Tuberculosis
Tuberculosis
0.010 Biomarker disease BEFREE MAV_2450, a polyketide synthase homologue to Mycobacterium tuberculosis pks12, was identified. 19745033 2010
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.010 Biomarker disease BEFREE The results obtained indicated that deletions of the LTRs resulted in a modification of the pathogenic spectrum of MAV-1(N) and a decreased efficiency for nephroblastoma induction. 14599793 2003