KLB, klotho beta, 152831

N. diseases: 53; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3899503
Disease: Congenital hypogonadotropic hypogonadism
Congenital hypogonadotropic hypogonadism 		0.310 Biomarker disease GENOMICS_ENGLAND
CUI: C0029928
Disease: Ovarian Diseases
Ovarian Diseases 		0.010 AlteredExpression group LHGDN Klotho expression in epithelial ovarian cancer and its association with insulin-like growth factors and disease progression. 18259951 2008
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.040 AlteredExpression disease BEFREE Here we show that βklotho expression is more consistently down-regulated in human and mouse hepatomas than FGFR4. 20657013 2010
CUI: C1262211
Disease: Diarrhoea predominant irritable bowel syndrome
Diarrhoea predominant irritable bowel syndrome 		0.020 GeneticVariation disease BEFREE Interaction tests of KLB rs17618244 with 3 nonsynonymous SNPs of fibroblast growth factor receptor 4 (FGFR4) revealed that rs1966265 (Val10Ile) and rs351855 (Gly388Arg) modulate rs1768244's association with colonic transit in IBS-D (P=.0025 and P=.0023, respectively). 21396369 2011
CUI: C0011847
Disease: Diabetes
Diabetes 		0.010 Biomarker disease BEFREE Mutations in Klotho/beta-Klotho or fgf19, -21, or -23 are associated with a number of human diseases, including autosomal dominant hypophosphatemic rickets, premature aging disorders, and diabetes. 21177529 2011
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.010 Biomarker group BEFREE Mutations in Klotho/beta-Klotho or fgf19, -21, or -23 are associated with a number of human diseases, including autosomal dominant hypophosphatemic rickets, premature aging disorders, and diabetes. 21177529 2011
CUI: C0342642
Disease: Autosomal dominant hypophosphatemic rickets
Autosomal dominant hypophosphatemic rickets 		0.010 Biomarker disease BEFREE Mutations in Klotho/beta-Klotho or fgf19, -21, or -23 are associated with a number of human diseases, including autosomal dominant hypophosphatemic rickets, premature aging disorders, and diabetes. 21177529 2011
CUI: C0348898
Disease: Irritable bowel syndrome with diarrhea
Irritable bowel syndrome with diarrhea 		0.010 GeneticVariation phenotype BEFREE A Klothoβ variant mediates protein stability and associates with colon transit in irritable bowel syndrome with diarrhea. 21396369 2011
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease BEFREE However, further studies are needed to explore the possibility that Klotho could be a novel therapeutic target to reduce obesity and related complications, and to determine whether and how Klotho might influence the regulation and function of a related protein, β-Klotho, which is also involved in energy metabolism. 22641000 2012
CUI: C0028754
Disease: Obesity
Obesity 		0.100 Biomarker disease BEFREE These results indicate that aberrantly elevated miR-34a in obesity attenuates hepatic FGF19 signaling by directly targeting βKL. 22988100 2012
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.040 Biomarker disease BEFREE The restricted tissue expression profile of KLB, together with the anti-proliferative effect observed with KLB-silencing, also qualifies it as a specific and potent therapeutic target for HCC patients. 22439738 2012
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 AlteredExpression group BEFREE Furthermore, we show that cancer cell lines harboring FGF19 copy number gain at the 11q13 amplicon are sensitive to NVP-BGJ398 only when concomitant expression of β-klotho occurs. 23002168 2012
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 AlteredExpression group BEFREE Furthermore, we show that cancer cell lines harboring FGF19 copy number gain at the 11q13 amplicon are sensitive to NVP-BGJ398 only when concomitant expression of β-klotho occurs. 23002168 2012
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast 		0.020 AlteredExpression disease BEFREE Quantitative real-time RT-PCR of ITGA7, SVEP1, TNS1, LPHN3, SEMA3G, KLB and MMP13 mRNA expression in breast cancer. 23317273 2012
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma 		0.020 AlteredExpression disease BEFREE Quantitative real-time RT-PCR of ITGA7, SVEP1, TNS1, LPHN3, SEMA3G, KLB and MMP13 mRNA expression in breast cancer. 23317273 2012
CUI: C1262211
Disease: Diarrhoea predominant irritable bowel syndrome
Diarrhoea predominant irritable bowel syndrome 		0.020 GeneticVariation disease BEFREE The purpose of this study was to test the hypothesis that colesevelam's slowing effects on CT in IBS-D patients is influenced by genetic variants in KLB and FGFR4. 22271411 2012
CUI: C0022104
Disease: Irritable Bowel Syndrome
Irritable Bowel Syndrome 		0.010 GeneticVariation disease BEFREE The second objective is to review pharmacogenetics in IBS, with the focus on cytochrome P-450 metabolism of drugs used in IBS, modulation of motor and sensory responses to serotonergic agents based on the 5-hydroxytryptamine (5-HT) transporter-linked polymorphic region (5-HTTLPR) and 5-HT(3) genetic variants, responses to a nonselective cannabinoid agonist (dronabinol) based on cannabinoid receptor (CNR1) and fatty acid amide hydrolase (FAAH) variation, and responses to a bile acid (sodium chenodeoxycholate) and bile acid binding (colesevelam) based on klothoβ (KLB) and fibroblast growth factor receptor 4 (FGFR4) variation. 22403795 2012
CUI: C0260037
Disease: Multiple tumors
Multiple tumors 		0.010 AlteredExpression phenotype BEFREE Quantitative real-time PCR analysis identified frequent elevation of KLB gene expression in HCC tumors relative to matched non-tumor tissue, with a more than two-fold increase correlating with development of multiple tumors in patients. 22439738 2012
CUI: C2711227
Disease: Steatohepatitis
Steatohepatitis 		0.010 Biomarker disease BEFREE After a meal, FGF19 is secreted from the ileum; binds to a hepatic membrane receptor complex, FGF19 receptor 4 and coreceptor β-Klotho (βKL); and mediates postprandial responses under physiological conditions, but hepatic responses to FGF19 signaling were shown to be impaired in patients with steatosis. 22988100 2012
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.060 Biomarker group BEFREE These data suggest βKlotho suppresses tumor growth in hepatocellular carcinoma. 23383245 2013
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.040 Biomarker disease BEFREE These data suggest βKlotho suppresses tumor growth in hepatocellular carcinoma. 23383245 2013
CUI: C0006826
Disease: Malignant Neoplasms
Malignant Neoplasms 		0.030 Biomarker group BEFREE βKlotho is a regulator in multiple metabolic processes, while its role in cancer remains unclear. 23383245 2013
CUI: C1306459
Disease: Primary malignant neoplasm
Primary malignant neoplasm 		0.030 Biomarker group BEFREE βKlotho is a regulator in multiple metabolic processes, while its role in cancer remains unclear. 23383245 2013
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.020 AlteredExpression disease BEFREE Consistent with these observations, KL and/or KLB were expressed in prostate cancer cells in vitro and in vivo, raising the possibility that additional endocrine FGFs may also exert biologic effects in prostate cancer. 23440425 2013
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.020 AlteredExpression disease BEFREE Consistent with these observations, KL and/or KLB were expressed in prostate cancer cells in vitro and in vivo, raising the possibility that additional endocrine FGFs may also exert biologic effects in prostate cancer. 23440425 2013