KL, klotho, 9365

N. diseases: 332; N. variants: 20
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.600 Biomarker disease MGD N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models. 25860694 2015
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.600 GermlineCausalMutation disease ORPHANET Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho). 22142751 2011
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.600 GermlineCausalMutation disease ORPHANET A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
CUI: C4693864
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 		0.600 GeneticVariation disease CLINVAR A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
CUI: C4693864
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 		0.600 GeneticVariation disease UNIPROT A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
CUI: C4693864
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3 		0.600 Biomarker disease GENOMICS_ENGLAND A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
CUI: C4692564
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 		0.600 CausalMutation disease CLINVAR
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.570 Biomarker disease BEFREE FGF23 and Klotho Levels are Independently Associated with Diabetic Foot Syndrome in Type 2 Diabetes Mellitus. 30987161 2019
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.570 AlteredExpression disease BEFREE Our results suggest that circulating Klotho level is a predictor of long-term macrovascular outcomes in patients with type 2 diabetes. 30048945 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.570 AlteredExpression disease BEFREE The effect of pentoxifylline on Klotho levels in patients with type 2 diabetes mellitus with chronic kidney disease (CKD) was assessed in a post hoc analysis of the Pentoxifylline for Renoprotection in Diabetic Nephropathy (PREDIAN) trial. 29866645 2018
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.570 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
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.570 Biomarker disease CTD_human Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease. 28869590 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.570 AlteredExpression disease BEFREE Serum levels of α-Klotho and β-Klotho are down-regulated in patients with T2DM. 27916483 2017
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.570 AlteredExpression disease BEFREE We investigated if sKlotho levels are decreased in type 2 diabetes and associate with MVD in the absence of diabetic nephropathy, and whether hyperglycemia affects renal Klotho production in vitro and in vivo. 23945089 2013
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.570 Biomarker disease RGD Renal expression of FGF23 in progressive renal disease of diabetes and the effect of ACE inhibitor. 23967103 2013
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.570 Biomarker disease BEFREE We performed a large case-control and family-based study to test the hypothesis that KL-VS is associated with type 2 diabetes in a UK Caucasian population. 16753056 2006
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.540 Biomarker disease BEFREE Inactivating autosomal recessive mutations in fibroblast growth factor 23 <i>(FGF23), klotho (KL) and polypeptide N-acetylgalactosaminotransferase 3 (GALNT3)</i> genes lead to a rare disorder, hyperphosphatemic familial tumoral calcinosis (HFTC). 30015621 2019
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.540 Biomarker disease BEFREE Inactivating mutations in FGF23, N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO (KL) have been reported as causing HFTC/HHS. 30226830 2018
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.540 GeneticVariation disease BEFREE Familial tumoral calcinosis (FTC)/hyperostosis-hyperphosphatemia syndrome (HHS) is a rare disorder caused by mutations in the genes encoding fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or KLOTHO. 27164190 2016
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.540 Biomarker disease BEFREE To date, recessive mutations have been described in three genes involving phosphate metabolism: FGF23, GALNT3, and α-Klotho, all of which result in the phenotypic presentation of hFTC. 25656441 2015
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.540 Biomarker disease MGD N-ethyl-N-Nitrosourea (ENU) induced mutations within the klotho gene lead to ectopic calcification and reduced lifespan in mouse models. 25860694 2015
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.540 GermlineCausalMutation disease ORPHANET Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho). 22142751 2011
CUI: C1876187
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL 		0.540 GermlineCausalMutation disease ORPHANET A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.400 Biomarker disease BEFREE Several pathogenic mechanisms such as inflammation-related endothelial dysfunction, mineral metabolism disorders, activation of the renin-angiotensin system, reduction of nitric oxide, lipid disorders, and the fibroblast growth factor 23-klotho axis are involved in the pathogenesis of atherosclerosis and arteriosclerosis, including VC. 31801144 2020
CUI: C0003850
Disease: Arteriosclerosis
Arteriosclerosis 		0.400 GeneticVariation disease BEFREE In predialysis stage 3-5 diabetic and nondiabetic CKD patients, CAVI levels and its relation to atherosclerosis-associated risk factors including monocyte-chemoattractant protein-1 (MCP-1), sclerostin, fibroblast growth factor-23 (FGF-23), Klotho, and 25-OH vitamin D were determined. 31773386 2020