KL, klotho, 9365

N. diseases: 332; N. variants: 20
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908423
rs121908423
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C4693864
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
0.800 GeneticVariation UNIPROT A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
dbSNP: rs121908423
rs121908423
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C4693864
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 3
G 0.800 GeneticVariation CLINVAR A homozygous missense mutation in human KLOTHO causes severe tumoral calcinosis. 17710231 2007
dbSNP: rs472875
rs472875
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C1445957
Disease:
Serum total cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs472875
rs472875
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs472875
rs472875
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0428474
Disease:
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs649964
rs649964
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs649964
rs649964
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C1445957
Disease:
Serum total cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs649964
rs649964
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0428474
Disease:
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs121908423
rs121908423
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C4692564
Disease:
TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1
G 0.700 CausalMutation CLINVAR
dbSNP: rs139939367
rs139939367
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0009402
Disease:
Colorectal Carcinoma
0.700 GeneticVariation UNIPROT
dbSNP: rs650439
rs650439
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0020538
Disease:
Hypertensive disease
0.020 GeneticVariation BEFREE Five hundred and twenty-three patients with hypertension were analyzed for both the presence of rs650439 and onset of stroke. 30595559 2018
dbSNP: rs650439
rs650439
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0020538
Disease:
Hypertensive disease
0.020 GeneticVariation BEFREE Therefore, klotho SNP (rs650439) may influence on the progression of carotid atherosclerosis in patients with hypertension. 20345435 2010
dbSNP: rs36217263
rs36217263
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE The deletion of at least one copy of allele A of rs36217263 near Klotho showed statistically significant association with poor response to beta-blockers (dominant; odds ratio (OR) = 3.89; P = 0.017), adjusted for diabetes and dyslipidemia. 31350855 2020
dbSNP: rs36217263
rs36217263
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0020538
Disease:
Hypertensive disease
0.010 GeneticVariation BEFREE The genetic variant rs36217263 is associated with poor response to cardioselective beta-blockers, which may become a potential marker to aid in the management of hypertension. 31350855 2020
dbSNP: rs36217263
rs36217263
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0011847
Disease:
Diabetes
0.010 GeneticVariation BEFREE The deletion of at least one copy of allele A of rs36217263 near Klotho showed statistically significant association with poor response to beta-blockers (dominant; odds ratio (OR) = 3.89; P = 0.017), adjusted for diabetes and dyslipidemia. 31350855 2020
dbSNP: rs36217263
rs36217263
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0242339
Disease:
Dyslipidemias
0.010 GeneticVariation BEFREE The deletion of at least one copy of allele A of rs36217263 near Klotho showed statistically significant association with poor response to beta-blockers (dominant; odds ratio (OR) = 3.89; P = 0.017), adjusted for diabetes and dyslipidemia. 31350855 2020
dbSNP: rs1207568
rs1207568
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0451641
Disease:
Urolithiasis
0.010 GeneticVariation BEFREE We assessed the associations between two polymorphisms (G-395 A/rs1207568 and F352 V/rs9536314) and five parameters (urolithiasis, cognitive impairment, cardiovascular disease, cancer, and longevity) by calculating pooled odds ratios with 95% confidence intervals. 30633899 2019
dbSNP: rs495392
rs495392
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C1561643
Disease:
Chronic Kidney Diseases
0.010 GeneticVariation BEFREE The presence of the allele T of the SNP rs495392 of the Klotho gene is associated with a decrease in the odds of progression of atheromatosis in CKD patients. 30010839 2019
dbSNP: rs495392
rs495392
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE The presence of the allele T of the SNP rs495392 of the Klotho gene is associated with a decrease in the odds of progression of atheromatosis in CKD patients. 30010839 2019
dbSNP: rs562020
rs562020
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE Bivariate analysis showed that none of the 11 SNPs was associated with atheroma plaque prevalence, but 3 of them (rs495392, rs562020 and rs567170) showed association with atheromatosis progression. 30010839 2019
dbSNP: rs564481
rs564481
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0038013
Disease:
Ankylosing spondylitis
0.010 GeneticVariation BEFREE AS patients with PA showed an earlier age of disease onset (p=0.021), longer disease duration (p=0.020) and longer duration of AS symptoms from onset (p=0.034) than AS patients without PA. We found significant associations with the presence of PA at disease onset in 14 SNPs located in 10 genes: HLA-DQB2 (rs2857210 and rs9276615), HLA-DOB (rs2857151, rs2621332 and rs1383261), JAK2 (rs7857730), IL-23R (rs11209008 and rs10489630), CYP1B1 (rs1056836), NELL1 (rs8176786), KL (rs564481), and MEFV (rs224204), IL-2RB (rs743777) and IL-1A (rs1800587). 30299251 2019
dbSNP: rs564481
rs564481
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0238694
Disease:
Peripheral arthritis
0.010 GeneticVariation BEFREE AS patients with PA showed an earlier age of disease onset (p=0.021), longer disease duration (p=0.020) and longer duration of AS symptoms from onset (p=0.034) than AS patients without PA. We found significant associations with the presence of PA at disease onset in 14 SNPs located in 10 genes: HLA-DQB2 (rs2857210 and rs9276615), HLA-DOB (rs2857151, rs2621332 and rs1383261), JAK2 (rs7857730), IL-23R (rs11209008 and rs10489630), CYP1B1 (rs1056836), NELL1 (rs8176786), KL (rs564481), and MEFV (rs224204), IL-2RB (rs743777) and IL-1A (rs1800587). 30299251 2019
dbSNP: rs567170
rs567170
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0004153
Disease:
Atherosclerosis
0.010 GeneticVariation BEFREE Bivariate analysis showed that none of the 11 SNPs was associated with atheroma plaque prevalence, but 3 of them (rs495392, rs562020 and rs567170) showed association with atheromatosis progression. 30010839 2019
dbSNP: rs9536282
rs9536282
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C4551596
Disease:
Abnormal renal morphology
0.010 GeneticVariation BEFREE We found a significant association between renal malformation and the rs9536282 (<i>KL</i>) variant and between rs4646536 (<i>CYP27B1</i>) and low-BMD, these variants may have modest effects on these characteristics but contribute to the variability of the TS phenotype. 30887870 2019
dbSNP: rs9536314
rs9536314
Entrez Id: 9365
Gene Symbol: KL
KL
CUI: C0451641
Disease:
Urolithiasis
0.010 GeneticVariation BEFREE We assessed the associations between two polymorphisms (G-395 A/rs1207568 and F352 V/rs9536314) and five parameters (urolithiasis, cognitive impairment, cardiovascular disease, cancer, and longevity) by calculating pooled odds ratios with 95% confidence intervals. 30633899 2019