chr13:33016423:> Detail (hg38)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr13:33,590,561-33,640,280 |
| hg38 | chr13:33,016,423-33,066,143 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
[No Data.]
Prediction
[No Data.]
ClinVar
| Clinical Significance | |
| Review star | [No Data.] |
| Show details | |
Links
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.006 | Cardiovascular Diseases | NA | BeFree,GAD | Detail | |
| <0.001 | Malignant tumor of cervix | NA | BeFree | Detail | |
| <0.001 | Cognition Disorders | Thus, increasing wild-type klotho levels or activities improves synaptic and cog... | BeFree | 25673831 | Detail |
| <0.001 | colitis | NA | BeFree | Detail | |
| <0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| 0.002 | Connective Tissue Diseases | NA | GAD | Detail | |
| 0.006 | Coronary Arteriosclerosis | NA | BeFree,GAD | Detail | |
| 0.002 | Coronary heart disease | NA | BeFree | Detail | |
| <0.001 | Dehydration | NA | BeFree | Detail | |
| <0.001 | Diabetes | Klotho expression was suppressed in the diabetic rats, but was increased by rAAV... | BeFree | 25695625 | Detail |
| <0.001 | diabetes mellitus | Klotho expression was suppressed in the diabetic rats, but was increased by rAAV... | BeFree | 25695625 | Detail |
| 0.080 | Diabetes Mellitus, Non-Insulin-Dependent | NA | BeFree,RGD | Detail | |
| 0.080 | Diabetic Nephropathy | NA | BeFree,RGD | Detail | |
| 0.120 | Pathological accumulation of air in tissues | NA | CTD_human | Detail | |
| <0.001 | External exotoses | NA | BeFree | Detail | |
| 0.002 | Fetal Diseases | NA | GAD | Detail | |
| <0.001 | Hodgkin Disease | NA | BeFree | Detail | |
| <0.001 | Huntington disease | NA | BeFree | Detail | |
| 0.123 | hypercalcemia | NA | BeFree,CTD_human,GAD | Detail | |
| 0.002 | Hypercalciuria | NA | GAD | Detail | |
| <0.001 | hyperinsulinism | NA | BeFree | Detail | |
| 0.080 | Hyperlipidemia | NA | RGD | Detail | |
| 0.080 | Hyperparathyroidism, Secondary | NA | BeFree,RGD | Detail | |
| 0.086 | Hypertensive disease | NA | BeFree,GAD,RGD | Detail | |
| 0.120 | infertility | NA | CTD_human | Detail | |
| 0.009 | Inflammation | NA | GAD | Detail | |
| 0.001 | ischemia | NA | BeFree | Detail | |
| <0.001 | Kidney Calculi | NA | BeFree | Detail | |
| 0.121 | Kidney Diseases | NA | BeFree,CTD_human | Detail | |
| 0.001 | Kidney Failure, Acute | NA | BeFree | Detail | |
| 0.090 | Kidney Failure, Chronic | We studied 40 patients with CKD on conservative treatment (group A), 44 patients... | BeFree,GAD,LHGDN,RGD | 25766835 | Detail |
| <0.001 | Leg Ulcer | NA | BeFree | Detail | |
| <0.001 | Leukemia, Myelocytic, Acute | Transfection of the mimic miR-126-5p into the AML cell line, KG-1, resulted in a... | BeFree | 25759982 | Detail |
| <0.001 | liver cirrhosis | NA | BeFree | Detail | |
| <0.001 | Liver neoplasms | NA | BeFree | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | Metabolic Diseases | NA | BeFree | Detail | |
| <0.001 | multiple sclerosis | NA | BeFree | Detail | |
| 0.002 | Musculoskeletal Diseases | NA | GAD | Detail | |
| <0.001 | Neoplasm Metastasis | NA | BeFree | Detail | |
| <0.001 | lipoid nephrosis | NA | BeFree | Detail | |
| <0.001 | obesity | NA | BeFree | Detail | |
| 0.006 | Degenerative polyarthritis | NA | BeFree,GAD,LHGDN | Detail | |
| 0.003 | Bone necrosis | NA | LHGDN | Detail | |
| 0.121 | osteoporosis | NA | BeFree,CTD_human | Detail | |
| <0.001 | ovarian carcinoma | NA | BeFree | Detail | |
| <0.001 | Parathyroid Diseases | NA | BeFree | Detail | |
| <0.001 | Pituitary Diseases | NA | BeFree | Detail | |
| 0.002 | Pregnancy Complications, Hematologic | NA | GAD | Detail | |
| 0.003 | priapism | NA | BeFree,GAD | Detail | |
| <0.001 | Protein Deficiency | The Klotho protein deficiency is known to participate in premature aging. | BeFree | 25601466 | Detail |
| <0.001 | pulmonary emphysema | NA | BeFree | Detail | |
| 0.001 | kidney failure | NA | BeFree | Detail | |
| 0.080 | retinitis pigmentosa | NA | RGD | Detail | |
| 0.122 | Dermatologic disorders | NA | CTD_human,GAD | Detail | |
| <0.001 | spondylosis | NA | BeFree | Detail | |
| 0.005 | Cerebrovascular accident | NA | GAD | Detail | |
| 0.002 | Tobacco use disorder | NA | GAD | Detail | |
| <0.001 | ureteral obstruction | NA | BeFree | Detail | |
| <0.001 | Polycystic Kidney, Autosomal Dominant | NA | BeFree | Detail | |
| <0.001 | essential hypertension | NA | BeFree | Detail | |
| 0.123 | Hyperphosphatemia (disorder) | NA | BeFree,CTD_human | Detail | |
| <0.001 | Left Ventricular Hypertrophy | NA | BeFree | Detail | |
| <0.001 | Small cell carcinoma of lung | NA | BeFree | Detail | |
| 0.002 | Lumbar spondylosis | NA | GAD | Detail | |
| 0.009 | Premature Birth | NA | GAD | Detail | |
| <0.001 | renal fibrosis | NA | BeFree | Detail | |
| <0.001 | Myocardial Ischemia | NA | BeFree | Detail | |
| <0.001 | Hypertrophy of kidney | Klotho gene delivery ameliorates renal hypertrophy and fibrosis in streptozotoci... | BeFree | 25695625 | Detail |
| 0.003 | Hyperparathyroidism, Primary | NA | BeFree,LHGDN | Detail | |
| 0.124 | Premature aging syndrome | The Klotho protein deficiency is known to participate in premature aging. | BeFree,CTD_human | 25601466 | Detail |
| 0.002 | Memory impairment | NA | GAD | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Renal interstitial fibrosis | NA | BeFree | Detail | |
| 0.003 | coronary stenosis | NA | BeFree,GAD | Detail | |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | Hearing problem | NA | BeFree | Detail | |
| <0.001 | parathyroid adenoma | NA | BeFree | Detail | |
| <0.001 | Tumoral calcinosis | NA | BeFree | Detail | |
| <0.001 | Osteoarthritis of the hand | NA | BeFree | Detail | |
| <0.001 | Adenocarcinoma of pancreas | NA | BeFree | Detail | |
| <0.001 | Phosphate Diabetes | NA | BeFree | Detail | |
| <0.001 | cervix carcinoma | NA | BeFree | Detail | |
| <0.001 | Papillary serous cystadenocarcinoma | Klotho mRNA levels were reduced in 16 of 19 EOC cell lines and immunohistochemis... | BeFree | 25827069 | Detail |
| <0.001 | Impaired cognition | Whether anti-aging factors such as klotho can counteract cognitive decline is un... | BeFree | 24813892 | Detail |
| <0.001 | Growth Hormone-Secreting Pituitary Adenoma | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of prostate | Our findings suggested that the C1548T polymorphism of KL gene is associated wit... | BeFree | 25120167 | Detail |
| 0.082 | Chronic Kidney Insufficiency | Serum klotho: relation to fibroblast growth factor-23 and other regulators of ph... | BeFree,RGD | 25766835 | Detail |
| <0.001 | Osteoarthritis of distal interphalangeal joint | NA | BeFree | Detail | |
| 0.005 | Osteoarthritis, Knee | NA | BeFree,GAD,LHGDN | Detail | |
| 0.080 | Metabolic syndrome X | NA | BeFree,RGD | Detail | |
| <0.001 | Neurodegenerative Disorders | In this regard, the GHRH-GH-IGF-1/Insulin, TOR-S6K1,NAD(+)-Sirtuin, P53, Klotho ... | BeFree | 25038521 | Detail |
| <0.001 | Neurodegenerative Disorders | Whether klotho can counteract deficits related to neurodegenerative diseases, su... | BeFree | 25673831 | Detail |
| <0.001 | Toxic nephropathy | NA | BeFree | Detail | |
| <0.001 | Carcinogenesis | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | Our findings suggested that the C1548T polymorphism of KL gene is associated wit... | BeFree | 25120167 | Detail |
| <0.001 | Epithelial ovarian cancer | Reduced expression and growth inhibitory activity of the aging suppressor klotho... | BeFree | 25827069 | Detail |
| 0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| <0.001 | Dissecting aneurysm of the thoracic aorta | NA | BeFree | Detail | |
| <0.001 | Hypophosphatemic Rickets, X-Linked Dominant | NA | BeFree | Detail | |
| 0.001 | Endothelial dysfunction | NA | BeFree | Detail | |
| 0.002 | Cardiomyopathies | NA | GAD | Detail | |
| <0.001 | Renal ischaemia | NA | BeFree | Detail | |
| <0.001 | Vascular inflammations | NA | BeFree | Detail | |
| 0.003 | Ischemic stroke | NA | BeFree,GAD | Detail | |
| 0.002 | Acute coronary syndrome | NA | GAD | Detail | |
| <0.001 | Malignant neoplasm of ovary | NA | BeFree | Detail | |
| <0.001 | Aortic valve disorder | NA | BeFree | Detail | |
| <0.001 | large cell neuroendocrine carcinoma | NA | BeFree | Detail | |
| 0.002 | Systemic arterial pressure | NA | GAD | Detail | |
| <0.001 | Atypical Ductal Breast Hyperplasia | NA | BeFree | Detail | |
| <0.001 | Invasive Carcinoma | NA | BeFree | Detail | |
| <0.001 | Large Cell Lung Neuroendocrine Carcinoma | NA | BeFree | Detail | |
| <0.001 | Ovarian Serous Adenocarcinoma | Klotho mRNA levels were reduced in 16 of 19 EOC cell lines and immunohistochemis... | BeFree | 25827069 | Detail |
| <0.001 | hypervitaminosis D | NA | BeFree | Detail | |
| 0.003 | Mammary Neoplasms | NA | BeFree,LHGDN | Detail | |
| <0.001 | Hepatocarcinogenesis | NA | BeFree | Detail | |
| <0.001 | colorectal cancer | NA | BeFree | Detail | |
| 0.005 | Chronic Kidney Diseases | The clinical benefit of FGF23 and Klotho measurements remain uncertain, neverthe... | BeFree | 25498378 | Detail |
| 0.005 | Chronic Kidney Diseases | Serum klotho: relation to fibroblast growth factor-23 and other regulators of ph... | BeFree | 25766835 | Detail |
| 0.080 | Renal Insufficiency | NA | BeFree,RGD | Detail | |
| <0.001 | Glomerulonephritis, Minimal Change | NA | BeFree | Detail | |
| <0.001 | NEPHROLITHIASIS, CALCIUM OXALATE | NA | BeFree | Detail | |
| 0.120 | Coronary artery disease, susceptibility to | NA | CLINVAR | Detail | |
| 0.080 | Emphysema, Hereditary Pulmonary | NA | MGD | Detail | |
| 0.360 | TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL | NA | CTD_human,ORPHANET,UNIPROT | Detail | |
| <0.001 | Osteophyte | NA | BeFree | Detail | |
| 0.122 | coronary artery disease | NA | BeFree,CTD_human | Detail | |
| 0.002 | Memory Impairment Adverse Event | NA | GAD | Detail | |
| <0.001 | liver carcinoma | NA | BeFree | Detail | |
| <0.001 | Cardio-Renal Syndrome | NA | BeFree | Detail | |
| <0.001 | Chronic kidney disease stage 5 | NA | BeFree | Detail | |
| <0.001 | Ischemic Cerebrovascular Accident | NA | BeFree | Detail | |
| <0.001 | Vitamin D-Resistant Rickets, X-Linked | NA | BeFree | Detail | |
| <0.001 | Rickets, X-Linked Hypophosphatemic | NA | BeFree | Detail | |
| 0.002 | Infection | NA | GAD | Detail | |
| <0.001 | acromegaly | NA | BeFree | Detail | |
| <0.001 | adenoma | NA | BeFree | Detail | |
| <0.001 | Alzheimer's disease | Thus, increasing wild-type klotho levels or activities improves synaptic and cog... | BeFree | 25673831 | Detail |
| 0.001 | Anemia, Sickle Cell | NA | BeFree | Detail | |
| <0.001 | Angina Pectoris, Variant | NA | BeFree | Detail | |
| 0.123 | arteriosclerosis | NA | BeFree,CTD_human | Detail | |
| <0.001 | rheumatoid arthritis | NA | BeFree | Detail | |
| 0.007 | atherosclerosis | NA | BeFree,GAD,LHGDN | Detail | |
| <0.001 | Bone Diseases | NA | BeFree | Detail | |
| 0.004 | Malignant neoplasm of breast | NA | BeFree,GAD | Detail | |
| 0.123 | calcinosis | NA | BeFree,CTD_human,GAD | Detail | |
| <0.001 | Malignant tumor of colon | NA | BeFree | Detail | |
| <0.001 | renal cell carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Thus, increasing wild-type klotho levels or activities improves synaptic and cognitive functions, an... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Klotho expression was suppressed in the diabetic rats, but was increased by rAAV.mKL delivery. rAAV.... | DisGeNET | Detail |
| Klotho expression was suppressed in the diabetic rats, but was increased by rAAV.mKL delivery. rAAV.... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We studied 40 patients with CKD on conservative treatment (group A), 44 patients with end-stage rena... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Transfection of the mimic miR-126-5p into the AML cell line, KG-1, resulted in a decrease in the sen... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The Klotho protein deficiency is known to participate in premature aging. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Klotho gene delivery ameliorates renal hypertrophy and fibrosis in streptozotocin-induced diabetic r... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The Klotho protein deficiency is known to participate in premature aging. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Klotho mRNA levels were reduced in 16 of 19 EOC cell lines and immunohistochemistry analysis reveale... | DisGeNET | Detail |
| Whether anti-aging factors such as klotho can counteract cognitive decline is unknown. | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our findings suggested that the C1548T polymorphism of KL gene is associated with the prostate cance... | DisGeNET | Detail |
| Serum klotho: relation to fibroblast growth factor-23 and other regulators of phosphate metabolism i... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In this regard, the GHRH-GH-IGF-1/Insulin, TOR-S6K1,NAD(+)-Sirtuin, P53, Klotho and APOE pathways ha... | DisGeNET | Detail |
| Whether klotho can counteract deficits related to neurodegenerative diseases, such as AD, is unknown... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our findings suggested that the C1548T polymorphism of KL gene is associated with the prostate cance... | DisGeNET | Detail |
| Reduced expression and growth inhibitory activity of the aging suppressor klotho in epithelial ovari... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Klotho mRNA levels were reduced in 16 of 19 EOC cell lines and immunohistochemistry analysis reveale... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The clinical benefit of FGF23 and Klotho measurements remain uncertain, nevertheless, the FGF23-Klot... | DisGeNET | Detail |
| Serum klotho: relation to fibroblast growth factor-23 and other regulators of phosphate metabolism i... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Thus, increasing wild-type klotho levels or activities improves synaptic and cognitive functions, an... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- Genome
- hg38
- Position
- chr13:33,016,423-33,066,143
- Variant Type
- snv
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