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: C0001948
Disease: Alcohol consumption
Alcohol consumption
0.100 GeneticVariation phenotype GWASCAT Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study. 28485404 2017
CUI: C2607914
Disease: Allergic rhinitis (disorder)
Allergic rhinitis (disorder)
0.010 GeneticVariation disease BEFREE The present study was performed to evaluate the potential association between specific single nucleotide polymorphisms (SNPs) in the TNFSF4 and BKL genes with susceptibility to AR in Chinese subjects. 28713926 2017
CUI: C0238461
Disease: Anaplastic thyroid carcinoma
Anaplastic thyroid carcinoma
0.010 Biomarker disease BEFREE The aim of this study was to assess FGF19, FGFR4 and βKL concentrations in a group of 36 patients with papillary thyroid cancer (PTC), 11 patients with follicular thyroid cancer (FTC), 9 patients with anaplastic thyroid cancer (ATC) and a group of 19 subjects with multinodular nontoxic goiter (MNG). 29438906 2018
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: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia
0.010 AlteredExpression disease BEFREE We determined that βKlotho expression was significantly decreased in PCa tissues compared with benign prostatic hyperplasia (BPH) tissues, and low βKlotho expression was associated with a high Gleason score of PCa. 29749458 2018
CUI: C0005845
Disease: Blood urea nitrogen measurement
Blood urea nitrogen measurement
0.100 GeneticVariation phenotype GWASCAT A catalog of genetic loci associated with kidney function from analyses of a million individuals. 31152163 2019
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.020 Biomarker disease BEFREE KLB interacts with FGFR4 to induce apoptosis and inhibit the proliferation of hepatoma cells, and KLA has been demonstrated to be a tumor suppressor in human breast cancer; however, little is known regarding the role of KLB in breast cancer. 29344186 2017
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: C0236734
Disease: Caffeine related disorders
Caffeine related disorders
0.010 Biomarker group BEFREE Sub-phenotype analyses targeting the alcohol, caffeine and sweetener components of beverages yielded additional loci: (i) four loci for bitter alcoholic beverages (GCKR, KLB, ADH1B and AGBL2); (ii) five loci for bitter non-alcoholic beverages (ANXA9, AHR, POR, CYP1A1/2 and CSDC2); (iii) 10 loci for coffee; six novel loci (SEC16B, TMEM18, OR8U8, AKAP6, MC4R and SPECC1L-ADORA2A); (iv) FTO for SSBs. 31046077 2019
CUI: C0596263
Disease: Carcinogenesis
Carcinogenesis
0.010 Biomarker phenotype BEFREE Several studies have investigated the role of βKlotho, an FGF/FGFR signaling co‑receptor in tumorigenesis. 29749458 2018
CUI: C0220748
Disease: Cartilage-hair hypoplasia
Cartilage-hair hypoplasia
0.010 Biomarker disease BEFREE We thus hypothesized that the metabolic FGF21/KLB/FGFR1 pathway is involved in CHH Genetic screening of 334 CHH patients identified seven heterozygous loss-of-function <i>KLB</i> mutations in 13 patients (4%). 28754744 2017
CUI: C0268318
Disease: Cholestasis of pregnancy
Cholestasis of pregnancy
0.010 AlteredExpression disease BEFREE In this study, our aim was to investigate the circulating FGF-19 and β-klotho levels in intrahepatic cholestasis of pregnancy (ICP) cases. 30697260 2019
Congenital hypogonadotropic hypogonadism
0.310 Biomarker disease GENOMICS_ENGLAND KLB, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 28754744 2017
Congenital hypogonadotropic hypogonadism
0.310 Biomarker disease GENOMICS_ENGLAND
Congenital hypogonadotropic hypogonadism
0.310 GeneticVariation disease BEFREE <i>KLB</i>, encoding β-Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism. 28754744 2017
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
Diabetes Mellitus, Non-Insulin-Dependent
0.030 AlteredExpression disease BEFREE In WAT, overweight/obesity with and without type 2 diabetes led to reduced expression of KLB, but increased FGFR1c expression. 28721439 2017
Diabetes Mellitus, Non-Insulin-Dependent
0.030 AlteredExpression disease BEFREE Our findings indicate that serum Klotho levels were associated with the development of T2DM, and long-term control of blood glucose will be beneficial in ameliorating changes to α-Klotho and β-Klotho levels in patients with T2DM and complications. 30042059 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.030 AlteredExpression disease BEFREE Serum levels of α-Klotho and β-Klotho are down-regulated in patients with T2DM. 27916483 2017
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.020 GeneticVariation phenotype BEFREE Variants in KLB and FGFR4 genes (that determine the functional re-uptake of BA in the portal circulation by hepatocytes) are also demonstrated to be associated with (75)SeHCAT retention, confirming a second potential mechanism for the development of BA diarrhea. 27018117 2016
CUI: C0011991
Disease: Diarrhea
Diarrhea
0.020 GeneticVariation phenotype BEFREE Thus exome sequencing identified additional variants in KLB and FGFR4 associated with bile acids or colonic transit in IBS-D. 24200957 2014
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
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: C0206682
Disease: Follicular thyroid carcinoma
Follicular thyroid carcinoma
0.010 Biomarker disease BEFREE The aim of this study was to assess FGF19, FGFR4 and βKL concentrations in a group of 36 patients with papillary thyroid cancer (PTC), 11 patients with follicular thyroid cancer (FTC), 9 patients with anaplastic thyroid cancer (ATC) and a group of 19 subjects with multinodular nontoxic goiter (MNG). 29438906 2018