chr12:21507893:> Detail (hg19)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr12:21,507,893-21,532,914 |
| hg38 | chr12:21,354,959-21,379,980 |
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 |
|---|---|---|---|---|---|
| <0.001 | Malignant tumor of cervix | We aims to investigate the radiosensitizing effect of an IAP inhibitor AT-406 on... | BeFree | 25168470 | Detail |
| 0.001 | colorectal carcinoma | NA | BeFree | Detail | |
| <0.001 | Coronary Arteriosclerosis | Activation of NOD1 by DAP contributes to myocardial ischemia/reperfusion injury ... | BeFree | 25608996 | Detail |
| 0.003 | Cessation of life | NA | LHGDN | Detail | |
| 0.004 | Diabetes | We report that a deficit in UCHL1 accelerated the onset of diabetes in hIAPP tra... | BeFree | 24879150 | Detail |
| 0.011 | diabetes mellitus | We report that a deficit in UCHL1 accelerated the onset of diabetes in hIAPP tra... | BeFree,GAD,LHGDN | 24879150 | Detail |
| 0.120 | Diabetes Mellitus, Experimental | NA | CTD_human | Detail | |
| <0.001 | Diabetes Mellitus, Insulin-Dependent | NA | BeFree | Detail | |
| 0.183 | Diabetes Mellitus, Non-Insulin-Dependent | The islet in type 2 diabetes mellitus (T2DM) is characterized by a deficit in β-... | BeFree,CTD_human,GAD,LHGDN | 24879150 | Detail |
| 0.183 | Diabetes Mellitus, Non-Insulin-Dependent | Human islet amyloid polypeptide (IAPP) is the major component of pancreatic amyl... | BeFree,CTD_human,GAD,LHGDN | 24928165 | Detail |
| 0.183 | Diabetes Mellitus, Non-Insulin-Dependent | Thus, BACE2 inhibition may be useful to recover insulin secretion in hIAPP-INS1E... | BeFree,CTD_human,GAD,LHGDN | 25342134 | Detail |
| 0.183 | Diabetes Mellitus, Non-Insulin-Dependent | These data provide the first in vivo evidence—using a transgenic mouse model wit... | BeFree,CTD_human,GAD,LHGDN | 25491100 | Detail |
| 0.003 | Diabetic Nephropathy | NA | LHGDN | Detail | |
| <0.001 | eclampsia | NA | BeFree | Detail | |
| <0.001 | epilepsy | NA | BeFree | Detail | |
| <0.001 | absence epilepsy | NA | BeFree | Detail | |
| <0.001 | glioblastoma | NA | BeFree | Detail | |
| <0.001 | Glucagonoma | NA | BeFree | Detail | |
| <0.001 | Hodgkin Disease | NA | BeFree | Detail | |
| 0.001 | hyperglycemia | Aggregation of human IAPP was associated with marked upregulation of proinflamma... | BeFree | 25491100 | Detail |
| <0.001 | hyperlipoproteinemia type III | NA | BeFree | Detail | |
| 0.003 | Hypertensive disease | NA | BeFree,LHGDN | Detail | |
| 0.002 | insulinoma | NA | BeFree | Detail | |
| 0.002 | Kidney Failure, Chronic | NA | GAD | Detail | |
| <0.001 | leiomyosarcoma | NA | BeFree | Detail | |
| <0.001 | leukemia | NA | BeFree | Detail | |
| <0.001 | chronic lymphocytic leukemia | NA | BeFree | Detail | |
| <0.001 | Leukemia, Lymphocytic, Acute, L1 | NA | BeFree | Detail | |
| <0.001 | Leukemia, Myelocytic, Acute | NA | BeFree | Detail | |
| <0.001 | myeloid leukemia | NA | BeFree | Detail | |
| <0.001 | Liver diseases | NA | BeFree | Detail | |
| <0.001 | lymphoma | NA | BeFree | Detail | |
| <0.001 | Lymphoma, Follicular | NA | BeFree | Detail | |
| 0.001 | Malignant neoplasm of stomach | NA | BeFree | Detail | |
| <0.001 | melanoma | NA | BeFree | Detail | |
| <0.001 | multiple myeloma | NA | BeFree | Detail | |
| <0.001 | spinal muscular atrophy | NA | BeFree | Detail | |
| <0.001 | Neck Neoplasms | NA | BeFree | Detail | |
| 0.002 | Neoplasm Metastasis | NA | BeFree | Detail | |
| 0.003 | obesity | IL-1Ra limited Il1a, Il1b, Tnf and Ccl2 expression in islets from obese hIAPP(Tg... | BeFree | 25491100 | Detail |
| 0.003 | obesity | The combinatorial peptidergic therapy of islet amyloid polypeptide (IAPP) and le... | BeFree | 25817008 | Detail |
| <0.001 | peritonitis | NA | BeFree | Detail | |
| <0.001 | Pituitary Neoplasms | NA | BeFree | Detail | |
| <0.001 | rhabdomyosarcoma | Our results identify IGF2BP1 as a critical translational regulator of cIAP1-medi... | BeFree | 24704827 | Detail |
| 0.120 | gastric ulcer | NA | CTD_human | Detail | |
| <0.001 | B-Cell Lymphomas | NA | BeFree | Detail | |
| <0.001 | gestational diabetes | NA | BeFree | Detail | |
| <0.001 | Myocardial Ischemia | Activation of NOD1 by DAP contributes to myocardial ischemia/reperfusion injury ... | BeFree | 25608996 | Detail |
| <0.001 | Prion Diseases | NA | BeFree | Detail | |
| 0.002 | Tumor Progression | NA | BeFree | Detail | |
| <0.001 | Neuroendocrine Tumors | NA | BeFree | Detail | |
| <0.001 | Adult Acute Myeloblastic Leukemia | NA | BeFree | Detail | |
| <0.001 | Reactive systemic amyloidosis | NA | BeFree | Detail | |
| <0.001 | Fibrillation | NA | BeFree | Detail | |
| <0.001 | pancreatic carcinoma | NA | BeFree | Detail | |
| <0.001 | Medullary carcinoma of thyroid | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of lung | NA | BeFree | Detail | |
| <0.001 | Mucosa-Associated Lymphoid Tissue Lymphoma | NA | BeFree | Detail | |
| <0.001 | Impaired glucose tolerance | In the Tg2576 AD mouse model, IAPP plasma levels were not significantly elevated... | BeFree | 25387341 | Detail |
| <0.001 | recurrent childhood acute lymphoblastic leukemia | NA | BeFree | Detail | |
| <0.001 | inflammatory breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Metastatic melanoma | NA | BeFree | Detail | |
| <0.001 | Liver and Intrahepatic Biliary Tract Carcinoma | NA | BeFree | Detail | |
| <0.001 | Transitional cell carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Congenital Disorders of Glycosylation | NA | BeFree | Detail | |
| <0.001 | cervix carcinoma | We aims to investigate the radiosensitizing effect of an IAP inhibitor AT-406 on... | BeFree | 25168470 | Detail |
| <0.001 | Maturity onset diabetes mellitus in young | NA | BeFree | Detail | |
| <0.001 | MRSA - Methicillin resistant Staphylococcus aureus infection | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of liver | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of pancreas | NA | BeFree | Detail | |
| <0.001 | prediabetes syndrome | In the Tg2576 AD mouse model, IAPP plasma levels were not significantly elevated... | BeFree | 25387341 | Detail |
| <0.001 | Malignant neoplasm of prostate | This study shows that BIRC6-based dual IAP-targeting ASOs represent potential no... | BeFree | 25071009 | Detail |
| 0.001 | Hematologic Neoplasms | NA | BeFree | Detail | |
| 0.002 | body mass | NA | GAD | Detail | |
| 0.002 | Carcinogenesis | The signals of carcinogenesis modulate the central control points of the apoptot... | BeFree | 25013758 | Detail |
| <0.001 | Leukemogenesis | NA | BeFree | Detail | |
| <0.001 | prostate carcinoma | This study shows that BIRC6-based dual IAP-targeting ASOs represent potential no... | BeFree | 25071009 | Detail |
| <0.001 | Hashimoto Disease | NA | BeFree | Detail | |
| <0.001 | breast carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of lung | NA | BeFree | Detail | |
| <0.001 | Secondary malignant neoplasm of lymph node | NA | BeFree | Detail | |
| <0.001 | nephronophthisis | NA | BeFree | Detail | |
| <0.001 | colon carcinoma | NA | BeFree | Detail | |
| 0.001 | stomach carcinoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of bladder | NA | BeFree | Detail | |
| <0.001 | Observation of Neuromuscular Block | NA | BeFree | Detail | |
| <0.001 | Myasthenic Syndromes, Congenital | The use of salbutamol and ephedrine alone or combined with pyridostigmine or 3,4... | BeFree | 25159927 | Detail |
| <0.001 | Myasthenic Syndromes, Congenital | The benefit of salbutamol and ephedrine alone or combined with pyridostigmine or... | BeFree | 25305004 | Detail |
| <0.001 | malignant pleural mesothelioma | NA | BeFree | Detail | |
| <0.001 | Becker muscular dystrophy | NA | BeFree | Detail | |
| <0.001 | Squamous cell carcinoma of the head and neck | NA | BeFree | Detail | |
| <0.001 | sarcoma | NA | BeFree | Detail | |
| <0.001 | Carcinoma of urinary bladder, superficial | NA | BeFree | Detail | |
| <0.001 | thyroid lymphoma | NA | BeFree | Detail | |
| 0.001 | colorectal cancer | NA | BeFree | Detail | |
| <0.001 | Non-Neoplastic Disorder | NA | BeFree | Detail | |
| <0.001 | Idiopathic Pulmonary Fibrosis | NA | BeFree | Detail | |
| <0.001 | lateral meningocele syndrome | NA | BeFree | Detail | |
| <0.001 | AMYOTROPHIC LATERAL SCLEROSIS 1 | NA | BeFree | Detail | |
| 0.002 | liver carcinoma | Here, we identify a novel synergistic induction of cell death by the combination... | BeFree | 25917078 | Detail |
| <0.001 | Nasopharyngeal carcinoma | NA | BeFree | Detail | |
| 0.006 | Plaque, Amyloid | Human islet amyloid polypeptide (IAPP) is the major component of pancreatic amyl... | BeFree | 24928165 | Detail |
| 0.006 | Plaque, Amyloid | These diseases are marked by extracellular amyloid deposits of islet amyloid pol... | BeFree | 25387341 | Detail |
| 0.006 | Plaque, Amyloid | These data provide the first in vivo evidence—using a transgenic mouse model wit... | BeFree | 25491100 | Detail |
| <0.001 | AA amyloidosis | NA | BeFree | Detail | |
| <0.001 | Triple Negative Breast Neoplasms | NA | BeFree | Detail | |
| <0.001 | Alzheimer's disease | Islet amyloid polypeptide (IAPP): a second amyloid in Alzheimer's disease. | BeFree | 25387341 | Detail |
| 0.004 | amyloidosis | NA | BeFree,LHGDN | Detail | |
| <0.001 | Anorexia | NA | BeFree | Detail | |
| <0.001 | arthritis | NA | BeFree | Detail | |
| <0.001 | azoospermia | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of urinary bladder | NA | BeFree | Detail | |
| <0.001 | Malignant neoplasm of breast | NA | BeFree | Detail | |
| <0.001 | Carcinoma, Ehrlich Tumor | NA | BeFree | Detail | |
| <0.001 | Non-small cell lung carcinoma | NA | BeFree | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| We aims to investigate the radiosensitizing effect of an IAP inhibitor AT-406 on cervical cancer cel... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Activation of NOD1 by DAP contributes to myocardial ischemia/reperfusion injury via multiple signali... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We report that a deficit in UCHL1 accelerated the onset of diabetes in hIAPP transgenic mice, due to... | DisGeNET | Detail |
| We report that a deficit in UCHL1 accelerated the onset of diabetes in hIAPP transgenic mice, due to... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The islet in type 2 diabetes mellitus (T2DM) is characterized by a deficit in β-cells and increased ... | DisGeNET | Detail |
| Human islet amyloid polypeptide (IAPP) is the major component of pancreatic amyloid deposits in type... | DisGeNET | Detail |
| Thus, BACE2 inhibition may be useful to recover insulin secretion in hIAPP-INS1E defective cells and... | DisGeNET | Detail |
| These data provide the first in vivo evidence—using a transgenic mouse model with amyloid deposits r... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Aggregation of human IAPP was associated with marked upregulation of proinflammatory gene expression... | 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 |
| IL-1Ra limited Il1a, Il1b, Tnf and Ccl2 expression in islets from obese hIAPP(Tg/0) mice, suggesting... | DisGeNET | Detail |
| The combinatorial peptidergic therapy of islet amyloid polypeptide (IAPP) and leptin (LEP) analogues... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Our results identify IGF2BP1 as a critical translational regulator of cIAP1-mediated apoptotic resis... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Activation of NOD1 by DAP contributes to myocardial ischemia/reperfusion injury via multiple signali... | 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 |
| In the Tg2576 AD mouse model, IAPP plasma levels were not significantly elevated at an age where the... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We aims to investigate the radiosensitizing effect of an IAP inhibitor AT-406 on cervical cancer cel... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| In the Tg2576 AD mouse model, IAPP plasma levels were not significantly elevated at an age where the... | DisGeNET | Detail |
| This study shows that BIRC6-based dual IAP-targeting ASOs represent potential novel therapeutic agen... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| The signals of carcinogenesis modulate the central control points of the apoptotic pathways, includi... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| This study shows that BIRC6-based dual IAP-targeting ASOs represent potential novel therapeutic agen... | 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 use of salbutamol and ephedrine alone or combined with pyridostigmine or 3,4-DAP is increasingly... | DisGeNET | Detail |
| The benefit of salbutamol and ephedrine alone or combined with pyridostigmine or 3,4-DAP is increasi... | 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 |
| Here, we identify a novel synergistic induction of cell death by the combination of the Smac mimetic... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Human islet amyloid polypeptide (IAPP) is the major component of pancreatic amyloid deposits in type... | DisGeNET | Detail |
| These diseases are marked by extracellular amyloid deposits of islet amyloid polypeptide (IAPP) in t... | DisGeNET | Detail |
| These data provide the first in vivo evidence—using a transgenic mouse model with amyloid deposits r... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| Islet amyloid polypeptide (IAPP): a second amyloid in Alzheimer's disease. | 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
- hg19
- Position
- chr12:21,507,893-21,532,914
- Variant Type
- snv
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