chr11:108093531:> Detail (hg19) (ATM)

Information

Genome

Assembly Position
hg19 chr11:108,093,531-108,239,829
hg38 chr11:108,222,804-108,369,102 

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
0.008 squamous cell carcinoma NA BeFree,LHGDN Detail
0.120 Cardiomyopathy, Dilated NA CTD_human Detail
<0.001 hypertrophic cardiomyopathy NA BeFree Detail
0.001 Cardiovascular Diseases NA BeFree Detail
<0.001 cerebellar ataxia NA BeFree Detail
<0.001 Cerebellar Diseases NA BeFree Detail
<0.001 cerebral infarction NA BeFree Detail
<0.001 brain ischemia NA BeFree Detail
0.002 Malignant tumor of cervix 8-ADEQ‑induced G₂/M arrest is mediated by the activation of both Chk1/2-Cdc25 an... BeFree 25812484 Detail
0.002 Malignant tumor of cervix However, the upregulation of miR-18a suppressed the level of ataxia-telangiectas... BeFree 25963391 Detail
0.003 cholangitis NA LHGDN Detail
<0.001 Primary biliary cirrhosis NA BeFree Detail
0.002 Chromosome Aberrations NA GAD Detail
0.005 Congenital chromosomal disease There was significant increase in unstable CA yields for both ATM mutation carri... BeFree 24681528 Detail
0.005 Congenital chromosomal disease A robust response to ODN+IL-15 was positively linked to presence of chromosomal ... BeFree 26136429 Detail
0.005 Congenital chromosomal disease However, like FXS alleles, FRDA alleles show significantly elevated levels of ch... BeFree 26379101 Detail
0.006 Colonic Neoplasms NA BeFree,LHGDN Detail
0.002 colorectal carcinoma NA BeFree Detail
0.008 Colorectal Neoplasms NA BeFree,GAD,LHGDN Detail
0.001 Coronary Arteriosclerosis NA BeFree Detail
<0.001 Coronary heart disease NA BeFree Detail
0.120 adenoid cystic carcinoma NA CTD_human Detail
0.003 Cessation of life NA LHGDN Detail
<0.001 Mental Depression NA BeFree Detail
<0.001 depressive disorder NA BeFree Detail
<0.001 scleroderma NA BeFree Detail
<0.001 Diabetes NA BeFree Detail
<0.001 diabetes mellitus NA BeFree Detail
<0.001 Diabetes Mellitus, Insulin-Dependent NA BeFree Detail
0.001 Diabetes Mellitus, Non-Insulin-Dependent NA BeFree Detail
0.009 DNA Damage NA GAD Detail
<0.001 dystonia NA BeFree Detail
0.003 Endometrial Neoplasms NA LHGDN Detail
<0.001 endometrial hyperplasia ATM might be a promising indicator for endometrial hyperplasia and cancer. BeFree 25608836 Detail
<0.001 Esophageal Neoplasms NA BeFree Detail
<0.001 Exanthema NA BeFree Detail
0.005 Fanconi anemia NA BeFree,LHGDN Detail
0.125 Fibrosis NA CTD_human,GAD Detail
<0.001 gastritis NA BeFree Detail
<0.001 gingivitis NA BeFree Detail
0.005 glioblastoma High resistance to X-rays and therapeutic carbon ions in glioblastoma cells bear... BeFree,LHGDN 24991884 Detail
0.005 glioblastoma Immunohistochemical analysis of 7 biomarkers on a series of 21 PIGCTs (germinoma... BeFree,LHGDN 25066726 Detail
0.012 Glioma MutL homolog 1 contributes to temozolomide-induced autophagy via ataxia-telangie... BeFree,GAD,LHGDN 25646660 Detail
<0.001 Focal glomerulosclerosis Angiotensin II, acting through its AT1 receptor, plays a critical role in genera... BeFree 26551740 Detail
<0.001 Heart failure NA BeFree Detail
<0.001 congestive heart failure NA BeFree Detail
<0.001 Hemophilia A NA BeFree Detail
<0.001 hepatitis NA BeFree Detail
<0.001 hepatitis A NA BeFree Detail
<0.001 hepatitis C NA BeFree Detail
0.001 Herpes Simplex Infections NA BeFree Detail
0.001 HIV Infections DNA damage signaling proteins including ATR, ATM and BRCA1 contribute to multipl... BeFree 25879655 Detail
0.008 Hodgkin Disease NA BeFree,GAD,LHGDN Detail
<0.001 Huntington disease A novel manganese-dependent ATM-p53 signaling pathway is selectively impaired in... BeFree 25489053 Detail
0.008 Hypertensive disease NA BeFree,GAD Detail
<0.001 Hypertension, Renovascular NA BeFree Detail
<0.001 Immunologic Deficiency Syndromes NA BeFree Detail
0.080 Insulin resistance NA RGD Detail
<0.001 ischemia NA BeFree Detail
0.001 Kidney Diseases Angiotensin II, acting through its AT1 receptor, plays a critical role in genera... BeFree 26551740 Detail
<0.001 Kidney Failure, Acute NA BeFree Detail
<0.001 Kidney Failure, Chronic The ATC haplotype of TLR3 was associated with a decreased risk of ESRD. BeFree 25171218 Detail
<0.001 Language Disorders NA BeFree Detail
0.017 leukemia Germline ATM inactivation causes ataxia-telangiectasia (A-T) syndrome with sever... BeFree,GAD,LHGDN 25721125 Detail
0.275 chronic lymphocytic leukemia The role of ATM mutations and 11q deletions in disease progression in chronic ly... BeFree,CTD_human,GAD,LHGDN,ORPHANET 23906020 Detail
0.275 chronic lymphocytic leukemia ATM mutation rather than BIRC3 deletion and/or mutation predicts reduced surviva... BeFree,CTD_human,GAD,LHGDN,ORPHANET 24584352 Detail
0.275 chronic lymphocytic leukemia Evidence suggests that tumor suppressor genes other than ATM are likely to be in... BeFree,CTD_human,GAD,LHGDN,ORPHANET 24686393 Detail
0.275 chronic lymphocytic leukemia The B-CLL fluorescence in situ hybridization (FISH) panel comprised ATM, CEP12, ... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25301672 Detail
0.275 chronic lymphocytic leukemia In contrast, NOTCH1 or K/N-RAS mutated CLL displayed normal responses in p53/ATM... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25371178 Detail
0.275 chronic lymphocytic leukemia The in vitro treatment of primary B-CLL cells with the activator of p53 Nutlin-3... BeFree,CTD_human,GAD,LHGDN,ORPHANET 25587027 Detail
0.275 chronic lymphocytic leukemia A robust response to ODN+IL-15 was positively linked to presence of chromosomal ... BeFree,CTD_human,GAD,LHGDN,ORPHANET 26136429 Detail
<0.001 lymphoid leukemia NA BeFree Detail
0.002 Acute lymphocytic leukemia NA BeFree Detail
<0.001 Leukemia, Lymphocytic, Acute, L1 NA BeFree Detail
0.004 Leukemia, Myelocytic, Acute NA BeFree,LHGDN Detail
0.002 myeloid leukemia NA GAD Detail
<0.001 Myeloid Leukemia, Chronic NA BeFree Detail
<0.001 prolymphocytic leukemia NA BeFree Detail
<0.001 Leukemia, T-Cell NA BeFree Detail
<0.001 Adult T-Cell Lymphoma/Leukemia NA BeFree Detail
0.003 Leukemia, T-Cell, Chronic NA BeFree Detail
<0.001 Leukoplakia NA BeFree Detail
0.003 Leukoplakia, Oral NA BeFree,LHGDN Detail
<0.001 liver cirrhosis NA BeFree Detail
0.003 Biliary cirrhosis NA LHGDN Detail
<0.001 Liver diseases NA BeFree Detail
<0.001 Liver neoplasms NA BeFree Detail
0.002 Chronic Obstructive Airway Disease NA GAD Detail
0.008 Lung Neoplasms NA BeFree,GAD,LHGDN Detail
0.002 colorectal carcinoma Further SNPs associated with CRC risk included several previously reported to be... BeFree 17000706 Detail
0.004 colorectal cancer Further SNPs associated with CRC risk included several previously reported to be... BeFree 17000706 Detail
0.001 Lupus Erythematosus, Systemic NA BeFree Detail
0.008 lymphoma Although EμCyclinD1 is not sufficient to induce lymphomas, EμCyclinD1 accelerate... BeFree,GAD 25676421 Detail
0.006 Lymphoma, Non-Hodgkin While the findings generated here warrant independent validation, the results of... BeFree,GAD,LHGDN 25010664 Detail
<0.001 lymphopenia Aberrant TCRδ rearrangement underlies the T-cell lymphocytopenia and t(12;14) tr... BeFree 25721125 Detail
0.001 Lymphoproliferative Disorders NA BeFree Detail
<0.001 Machado-Joseph disease We report that persistent accumulation of DNA damage/strand breaks and chronic a... BeFree 25590633 Detail
0.006 Malignant neoplasm of stomach There was inverse correlation between miR-181a and ATM protein expression in gas... BeFree,GAD 24531888 Detail
0.006 Malignant neoplasm of stomach Loss-of-function variants in ATM confer risk of gastric cancer. BeFree,GAD 26098866 Detail
0.002 Animal Mammary Neoplasms NA GAD Detail
0.246 melanoma NA BeFree,CTD_human,GAD,GWASCAT Detail
0.002 Meningeal Neoplasms NA GAD Detail
0.006 meningioma NA BeFree,GAD,LHGDN Detail
<0.001 Metabolic Diseases NA BeFree Detail
<0.001 microcephaly NA BeFree Detail
0.005 Mouth Neoplasms NA GAD Detail
0.003 multiple myeloma NA BeFree,LHGDN Detail
0.122 myocardial infarction NA BeFree,CTD_human Detail
0.003 Neoplasm Metastasis ATM mRNA was associated with poor metastasis-free survival (MFS) (P=0.00012) on ... BeFree 25742469 Detail
0.002 Neoplasms, Radiation-Induced NA GAD Detail
0.001 nervous system disorder NA BeFree Detail
0.001 neuroblastoma NA BeFree Detail
<0.001 obesity NA BeFree Detail
0.003 osteosarcoma Selenite activates the ATM kinase-dependent DNA repair pathway in human osteosar... BeFree,LHGDN 25862479 Detail
0.002 ovarian carcinoma The wild-type p53-induced phosphatase 1 (WIP1) is a serine/threonine phosphatase... BeFree 25658463 Detail
0.002 ovarian carcinoma The expression patterns of the key DNA damage response-related proteins, ataxia-... BeFree 26124337 Detail
<0.001 Ovarian Diseases NA BeFree Detail
0.127 Pancreatic Neoplasm NA BeFree,CTD_human,GAD Detail
<0.001 pancytopenia NA BeFree Detail
0.120 Peripheral neuropathy NA CTD_human Detail
<0.001 Phenylketonurias NA BeFree Detail
<0.001 pneumonia NA BeFree Detail
<0.001 Adenomatous Polyposis Coli NA BeFree Detail
0.083 Precancerous Conditions NA BeFree,GAD,RGD Detail
<0.001 Preleukemia NA BeFree Detail
0.120 Prenatal Exposure Delayed Effects NA CTD_human Detail
<0.001 proctitis NA BeFree Detail
0.128 Prostatic Neoplasms NA BeFree,CTD_human,GAD,LHGDN Detail
<0.001 Protein Deficiency NA BeFree Detail
<0.001 psoriasis NA BeFree Detail
<0.001 pulmonary emphysema NA BeFree Detail
<0.001 kidney failure NA BeFree Detail
0.003 rhabdomyosarcoma NA BeFree,LHGDN Detail
0.006 schizophrenia NA BeFree,GAD,LHGDN Detail
<0.001 Skin Neoplasms NA BeFree Detail
<0.001 hereditary spherocytosis NA BeFree Detail
0.080 status epilepticus NA RGD Detail
0.120 Stomach Neoplasms NA BeFree,CTD_human Detail
<0.001 sudden infant death syndrome NA BeFree Detail
<0.001 hereditary hemorrhagic telangiectasia NA BeFree Detail
0.004 telangiectasis NA BeFree,LHGDN Detail
<0.001 thalassemia NA BeFree Detail
<0.001 Thromboembolism Venous thromboembolism [TE] is a multifactorial disease and antithrombin deficie... BeFree 24966143 Detail
<0.001 thymoma NA BeFree Detail
0.003 Thyroid Neoplasm NA BeFree,GAD Detail
<0.001 tuberculosis NA BeFree Detail
<0.001 ureteral obstruction ATM activation (pATM(Ser1981)) increased 4-fold in the tubulointerstitial region... BeFree 25480384 Detail
<0.001 Vesico-Ureteral Reflux NA BeFree Detail
<0.001 Virus Diseases NA BeFree Detail
0.004 B-Cell Lymphomas Mechanisms that can promote peripheral B-cell lymphoma in ATM-deficient mice. BeFree,LHGDN 24913718 Detail
0.004 B-Cell Lymphomas Early B-cell-specific inactivation of ATM synergizes with ectopic CyclinD1 expre... BeFree,LHGDN 25676421 Detail
0.003 diffuse large B-cell lymphoma NA BeFree,GAD Detail
<0.001 Lymphoma, Large-Cell, Follicular NA BeFree Detail
<0.001 Immunoblastic Large-Cell Lymphoma NA BeFree Detail
<0.001 T-Cell Lymphoma In humans, ATM deficiency predisposes to B- and T-cell lymphomas, but in mice it... BeFree 24913718 Detail
<0.001 T-Cell Lymphoma Germline ATM inactivation causes ataxia-telangiectasia (A-T) syndrome with sever... BeFree 25721125 Detail
0.120 Lymphoma, T-Cell, Cutaneous NA CTD_human Detail
0.120 peripheral T-cell lymphoma NA BeFree,CTD_human Detail
<0.001 severe combined immunodeficiency NA BeFree Detail
<0.001 Li-Fraumeni syndrome NA BeFree Detail
<0.001 Polyendocrinopathies, Autoimmune NA BeFree Detail
0.002 essential hypertension NA BeFree Detail
<0.001 acute leukemia NA BeFree Detail
0.120 cataract NA CTD_human Detail
<0.001 benign neoplasm NA BeFree Detail
<0.001 Epstein-Barr Virus Infections NA BeFree Detail
0.002 Left Ventricular Hypertrophy NA BeFree Detail
0.002 Small cell carcinoma of lung NA GAD Detail
<0.001 renal fibrosis Furthermore, TGF-β1/ATM-initiated paracrine factor secretion by dysfunctional re... BeFree 25480384 Detail
<0.001 Myocardial Ischemia NA BeFree Detail
<0.001 Adenocarcinoma of lung (disorder) NA BeFree Detail
<0.001 esophageal carcinoma The present study aimed to explore the effects of ATDC gene silencing on the gro... BeFree 25491629 Detail
<0.001 hypertensive heart disease NA BeFree Detail
<0.001 Malignant neoplasm of mouth NA BeFree Detail
<0.001 Malignant neoplasm of pharynx NA BeFree Detail
<0.001 Malignant neoplasm of testis NA BeFree Detail
<0.001 Malignant neoplasm of brain NA BeFree Detail
<0.001 Exudative retinopathy NA BeFree Detail
<0.001 secondary hypertension NA BeFree Detail
0.080 Liver Failure, Acute This assay of ATM promoter activity identified biological agents capable of cont... BeFree,RGD 24927134 Detail
<0.001 Agenesis of corpus callosum NA BeFree Detail
0.002 Tumor Progression The clinical significances of p-ATR and p-ATM protein expression were evaluated ... BeFree 26124337 Detail
<0.001 follicular adenoma NA BeFree Detail
<0.001 Anaplastic carcinoma NA BeFree Detail
0.002 Radiation Pneumonitis NA GAD Detail
<0.001 Lichen Planus, Oral However, haplotype ATA extracted from 1082G/A, -819C/T, -592C/A polymorphisms of... BeFree 26221924 Detail
<0.001 adrenal cortical adenoma NA BeFree Detail
<0.001 Follicular thyroid carcinoma NA BeFree Detail
<0.001 adrenocortical carcinoma NA BeFree Detail
<0.001 Medullary carcinoma NA BeFree Detail
<0.001 mucoepidermoid carcinoma NA BeFree Detail
<0.001 Cervical Intraepithelial Neoplasia NA BeFree Detail
<0.001 Neuroendocrine Tumors Recent data has also revealed the potential relevance of transcription factors s... BeFree 24375390 Detail
<0.001 Lip and oral cavity carcinoma NA BeFree Detail
<0.001 childhood Hodgkin's lymphoma NA BeFree Detail
<0.001 Comedone NA BeFree Detail
<0.001 alpha 1-antitrypsin deficiency NA BeFree Detail
<0.001 Premature aging syndrome NA BeFree Detail
<0.001 Ataxic NA BeFree Detail
<0.001 Neurologic Symptoms Even before the identification of ATM mutations, it was clear that other disease... BeFree 25038946 Detail
0.002 pancreatic carcinoma NA BeFree Detail
<0.001 Anaplastic thyroid carcinoma Genetically engineered models of papillary and undifferentiated (anaplastic) thy... BeFree 24295207 Detail
0.002 Papillary thyroid carcinoma Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of... BeFree 25196645 Detail
<0.001 Congenital posterior urethral valves NA BeFree Detail
<0.001 Fibrosis, Liver NA BeFree Detail
0.021 Malignant neoplasm of lung Effect of single nucleotide polymorphism Rs189037 in ATM gene on risk of lung ca... BeFree,GAD 25541996 Detail
0.021 Malignant neoplasm of lung Ataxia-telangiectasia mutated (ATM) participates in the regulation of ionizing r... BeFree,GAD 26269117 Detail
<0.001 age related macular degeneration NA BeFree Detail
<0.001 Isochromosomes NA BeFree Detail
<0.001 Mucosa-Associated Lymphoid Tissue Lymphoma NA BeFree Detail
0.120 Ventricular Dysfunction, Left NA CTD_human Detail
0.001 Cerebellar degeneration NA BeFree Detail
<0.001 Acute respiratory failure NA BeFree Detail
<0.001 Seckel syndrome NA BeFree Detail
0.002 Chronic Periodontitis In this longitudinal clinical study, we observed that neither the outcome of non... BeFree 24033189 Detail
<0.001 Xeroderma pigmentosum, group A NA BeFree Detail
<0.001 Spastic syndrome NA BeFree Detail
<0.001 Eales disease NA BeFree Detail
<0.001 Shwachman syndrome NA BeFree Detail
<0.001 antithrombin III deficiency Venous thromboembolism [TE] is a multifactorial disease and antithrombin deficie... BeFree 24966143 Detail
<0.001 Non-small cell lung cancer metastatic Herein we identified a KRAS Q22K mutation and frameshift mutations in the genes ... BeFree 25964588 Detail
<0.001 Cancer of Head and Neck NA BeFree Detail
<0.001 Squamous cell carcinoma of esophagus Especially, the ACC, ACT, and ATC haplotypes derived from the TBX21 gene would i... BeFree 25577251 Detail
<0.001 Squamous cell carcinoma of esophagus Associations of ATM Polymorphisms With Survival in Advanced Esophageal Squamous ... BeFree 26094126 Detail
<0.001 Conventional (Clear Cell) Renal Cell Carcinoma NA BeFree Detail
<0.001 Solid tumour NA BeFree Detail
<0.001 stage, cervical cancer NA BeFree Detail
<0.001 stage, prostate cancer NA BeFree Detail
<0.001 diffuse astrocytoma NA BeFree Detail
0.001 bilateral breast cancer NA BeFree Detail
<0.001 Infantile Refsum Disease (disorder) NA BeFree Detail
0.002 cervix carcinoma Resveratrol analogue (E)-8-acetoxy-2-[2-(3,4-diacetoxyphenyl)ethenyl]-quinazolin... BeFree 25812484 Detail
0.002 cervix carcinoma However, the upregulation of miR-18a suppressed the level of ataxia-telangiectas... BeFree 25963391 Detail
<0.001 Restenosis NA BeFree Detail
<0.001 Superficial ulcer NA BeFree Detail
0.246 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse A synthetic lethal screen reveals enhanced sensitivity to ATR inhibitor treatmen... BeFree,CLINVAR,ORPHANET 25232030 Detail
0.246 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse Together these findings define a synergistic function of ATM and CyclinD1 in pre... BeFree,CLINVAR,ORPHANET 25676421 Detail
0.246 Malignant lymphoma, lymphocytic, intermediate differentiation, diffuse Whether adjusted for MCL International Prognostic Index (MIPI) or not, deletions... BeFree,CLINVAR,ORPHANET 26022239 Detail
<0.001 Thyroid associated opthalmopathies NA BeFree Detail
0.123 Breast Cancer, Familial However, only about 20% of familial breast cancer is attributed to mutations in ... BeFree,CLINVAR 25736863 Detail
0.004 Malignant neoplasm of pancreas NA BeFree,GAD Detail
0.011 Malignant neoplasm of prostate Moreover, aberrations of BRCA2, BRCA1, and ATM were observed at substantially hi... BeFree,GAD 26000489 Detail
0.011 Malignant neoplasm of prostate In addition, it was recently shown that aberrations in DNA repair genes, such as... BeFree,GAD 26210103 Detail
<0.001 Hematologic Neoplasms NA BeFree Detail
<0.001 Pancreatitis, Alcoholic The odds ratio of people having one ATA haplotype was 6.233 (95% CI, 0.739-52.54... BeFree 24835349 Detail
<0.001 Progressive cerebellar ataxia NA BeFree Detail
<0.001 Dystonia Disorders NA BeFree Detail
<0.001 Isolated cervical dystonia NA BeFree Detail
<0.001 Dystonia, Diurnal NA BeFree Detail
0.005 Nijmegen breakage syndrome NA BeFree Detail
<0.001 Chronic Kidney Insufficiency NA BeFree Detail
<0.001 Undifferentiated inflammatory oligoarthritis NA BeFree Detail
0.002 Trisomy 12 NA BeFree Detail
0.004 endometrial carcinoma ATM expression was negatively correlated with pathological grades in type I endo... BeFree,GAD 25608836 Detail
0.004 endometrial carcinoma We sought to validate the clinicopathologic implications and prognostic signific... BeFree,GAD 26144601 Detail
<0.001 Recurrent tumor NA BeFree Detail
<0.001 Peritoneal Fibrosis NA BeFree Detail
0.002 Neurodegenerative Disorders NA BeFree Detail
<0.001 Hepatitis C, Chronic NA BeFree Detail
<0.001 Fluid overload NA BeFree Detail
<0.001 Malignant neoplasm of esophagus NA BeFree Detail
0.002 Thyroid carcinoma Our results suggest that genetic polymorphisms of ATM may play an important role... BeFree 25196645 Detail
0.002 Thyroid carcinoma Inhibition of HMGA expression in thyroid cancer cells reduces levels of ATM prot... BeFree 25409711 Detail
<0.001 Malignant glioma NA BeFree Detail
<0.001 Multisystem disorder NA BeFree Detail
<0.001 Factor V Leiden mutation ATD co-occurred with the factor-V-Leiden mutation in one and the prothrombin G20... BeFree 24966143 Detail
<0.001 Squamous cell carcinoma of mouth NA BeFree Detail
<0.001 Osteosarcoma of bone Selenite activates the ATM kinase-dependent DNA repair pathway in human osteosar... BeFree 25862479 Detail
0.014 Carcinogenesis ATM may be a protective factor in endometrial carcinogenesis with the progestero... BeFree 25608836 Detail
0.014 Carcinogenesis Since the ATM-dependent cell-cycle checkpoint is an important block to carcinoge... BeFree 25868131 Detail
0.002 subcutaneous fibrosis NA GAD Detail
0.003 Leukemogenesis Together these findings define a synergistic function of ATM and CyclinD1 in pre... BeFree 25676421 Detail
<0.001 Lymphoid neoplasm NA BeFree Detail
0.007 prostate carcinoma Moreover, aberrations of BRCA2, BRCA1, and ATM were observed at substantially hi... BeFree 26000489 Detail
0.007 prostate carcinoma In addition, it was recently shown that aberrations in DNA repair genes, such as... BeFree 26210103 Detail
0.001 Hereditary Breast and Ovarian Cancer Syndrome NA BeFree Detail
0.003 Epithelial ovarian cancer Ataxia-Telangiectasia and RAD3-Related and Ataxia-Telangiectasia-Mutated Protein... BeFree,GAD 26124337 Detail
0.047 breast carcinoma Here, we address two related questions: (1) are some rare MRN variants intermedi... BeFree 24894818 Detail
0.047 breast carcinoma Previously, it was reported that TGFβ downregulates the expression of ataxia tel... BeFree 25103497 Detail
0.047 breast carcinoma Targeting BRCA1-BER deficient cells by blockade of ATM and DNA-PKcs could be a p... BeFree 25205036 Detail
0.047 breast carcinoma Low nuclear ATM protein level was significantly associated with aggressive breas... BeFree 25425972 Detail
0.047 breast carcinoma Finally, miR-203 may be responsible for downregulation of ATM in breast cancers. BeFree 25742469 Detail
0.047 breast carcinoma In women of Adygei Republic, ATA/GCA gaplotypes are associated with high risk fa... BeFree 25778657 Detail
0.047 breast carcinoma Oxidative stress shapes breast cancer phenotype through chronic activation of AT... BeFree 25862169 Detail
0.047 breast carcinoma Notch1 and ATM activation are inversely correlated in human breast cancers, and ... BeFree 25895060 Detail
0.047 breast carcinoma Low ATM protein expression in malignant tumor as well as cancer-associated strom... BeFree 25935535 Detail
0.047 breast carcinoma WBC's DNA was the focus of several case-control studies at both genome wide and ... BeFree 26076810 Detail
0.005 Carcinoma of lung Effect of single nucleotide polymorphism Rs189037 in ATM gene on risk of lung ca... BeFree 25541996 Detail
0.005 Carcinoma of lung Ataxia-telangiectasia mutated (ATM) participates in the regulation of ionizing r... BeFree 26269117 Detail
<0.001 Malignant neoplasm of gastrointestinal tract NA BeFree Detail
<0.001 Secondary malignant neoplasm of lymph node NA BeFree Detail
0.001 colon carcinoma NA BeFree Detail
0.003 stomach carcinoma There was inverse correlation between miR-181a and ATM protein expression in gas... BeFree 24531888 Detail
0.003 stomach carcinoma Loss-of-function variants in ATM confer risk of gastric cancer. BeFree 26098866 Detail
0.001 Carcinoma of bladder In contrast, a bladder cancer cell line cotreated with ATM and replication inhib... BeFree 25043304 Detail
0.001 Carcinoma of bladder The ATM inhibitor KU55933 sensitizes radioresistant bladder cancer cells with DA... BeFree 25585815 Detail
0.001 Central neuroblastoma NA BeFree Detail
<0.001 Dissecting aneurysm of the thoracic aorta NA BeFree Detail
<0.001 Microalbuminuria NA BeFree Detail
<0.001 Idiopathic polypoidal choroidal vasculopathy NA BeFree Detail
<0.001 Cerebellar atrophy NA BeFree Detail
<0.001 Varicella zoster NA BeFree Detail
<0.001 Pharyngeal Carcinoma NA BeFree Detail
<0.001 Brain Tumor, Primary NA BeFree Detail
<0.001 Classical phenylketonuria NA BeFree Detail
<0.001 adult acute lymphocytic leukemia NA BeFree Detail
<0.001 Multiple Sclerosis, Relapsing-Remitting NA BeFree Detail
<0.001 Spots on skin NA BeFree Detail
<0.001 Invasive breast carcinoma NA BeFree Detail
<0.001 Pancreatic carcinoma resectable NA BeFree Detail
<0.001 Testicular malignant germ cell tumor NA BeFree Detail
<0.001 Acute GVH disease Because of almost absolute linkage disequilibrium observed among all 5 SNPs, ass... BeFree 25759145 Detail
<0.001 Chronic graft-versus-host disease NA BeFree Detail
<0.001 Intraepithelial Neoplasia NA BeFree Detail
0.002 Carcinoma, Pancreatic Ductal NA GAD Detail
<0.001 Cerebral Ischemia NA BeFree Detail
0.003 ovarian neoplasm NA BeFree,LHGDN Detail
<0.001 precancerous lesions NA BeFree Detail
<0.001 Ischemic stroke NA BeFree Detail
<0.001 Acute coronary syndrome Autoantibodies targeting AT1 receptor from patients with acute coronary syndrome... BeFree 25762441 Detail
<0.001 Colorectal cancer metastatic NA BeFree Detail
<0.001 Polyomavirus Infections NA BeFree Detail
0.001 Contralateral breast cancer NA BeFree Detail
<0.001 Invasive Ductal Breast Carcinoma NA BeFree Detail
0.007 Malignant neoplasm of ovary The wild-type p53-induced phosphatase 1 (WIP1) is a serine/threonine phosphatase... BeFree,GAD 25658463 Detail
0.007 Malignant neoplasm of ovary The expression patterns of the key DNA damage response-related proteins, ataxia-... BeFree,GAD 26124337 Detail
0.002 Squamous cell carcinoma of the head and neck NA BeFree Detail
<0.001 Ductal Carcinoma NA BeFree Detail
<0.001 sarcoma NA BeFree Detail
<0.001 attention deficit hyperactivity disorder By applying the ICSNPathway analysis to the ADHD GWAS data, 11 candidate SNPs, 6... BeFree 24531918 Detail
<0.001 Persistent infection NA BeFree Detail
<0.001 Atypical teratoid/rhabdoid tumor NA BeFree Detail
<0.001 Chronic leukemia (category) NA BeFree Detail
<0.001 Precursor B-cell lymphoblastic leukemia NA BeFree Detail
<0.001 Neuropathy ataxia and retinis pigmentosa Selenite increased the activity of ATM kinase in NARP cybrids and Rho0 cells wit... BeFree 25862479 Detail
<0.001 Aggressive Non-Hodgkin Lymphoma NA BeFree Detail
<0.001 Hereditary Nonpolyposis Colorectal Cancer NA BeFree Detail
<0.001 indolent lymphoma NA BeFree Detail
<0.001 pancreatic ductal adenocarcinoma NA BeFree Detail
0.003 Sporadic Breast Carcinoma Clinicopathological significance of ATM-Chk2 expression in sporadic breast cance... BeFree 25425972 Detail
0.003 Sporadic Breast Carcinoma ATM has a major role in the double-strand break repair pathway dysregulation in ... BeFree 25742469 Detail
<0.001 Thymic Lymphoma ATM(-/-) mice recapitulate lymphocytopenia of A-T patients and routinely succumb... BeFree 25721125 Detail
<0.001 differentiated thyroid gland carcinoma Common variants at the 9q22.33, 14q13.3 and ATM loci, and risk of differentiated... BeFree 25879635 Detail
<0.001 Marginal Zone B-Cell Lymphoma NA BeFree Detail
<0.001 Conn Syndrome NA BeFree Detail
0.207 Mammary Neoplasms We used qRT-PCR assay to quantify mRNA levels of ATM gene in 454 breast tumours ... BeFree,CTD_human,GAD,LHGDN 25742469 Detail
<0.001 Primary Glioblastoma NA BeFree Detail
<0.001 Cancer Cell Growth NA BeFree Detail
<0.001 Tumor Angiogenesis NA BeFree Detail
0.004 colorectal cancer NA BeFree,GAD Detail
<0.001 Rash and Dermatitis Adverse Event Associated with Chemoradiation Four tagSNPs of ATM were genotyped in 412 individuals with clinical stage III or... BeFree 26094126 Detail
<0.001 Chronic Kidney Diseases NA BeFree Detail
<0.001 Glioblastoma multiforme NA BeFree Detail
<0.001 Cirrhosis NA BeFree Detail
<0.001 Pyothorax-Associated Lymphoma NA BeFree Detail
<0.001 Aggressive periodontitis, generalized NA BeFree Detail
<0.001 Meningioma, benign, no ICD-O subtype NA BeFree Detail
<0.001 Azoospermia, Nonobstructive NA BeFree Detail
<0.001 Dopa-responsive dystonia NA BeFree Detail
0.001 Ataxia-telangiectasia-like disorder Western blot assay demonstrated total loss of MRE11 and reduction of ATM-depende... BeFree 24733832 Detail
<0.001 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia NA BeFree Detail
0.001 uterine corpus cancer ATM expression was negatively correlated with pathological grades in type I endo... BeFree 25608836 Detail
0.001 uterine corpus cancer We sought to validate the clinicopathologic implications and prognostic signific... BeFree 26144601 Detail
0.002 coronary artery disease NA BeFree Detail
<0.001 Parvovirus B19 (disease) NA BeFree Detail
0.002 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma We conclude that CHK1 is critical for T-ALL proliferation and viability by downm... BeFree 25132270 Detail
0.002 Precursor T-Cell Lymphoblastic Leukemia-Lymphoma We discuss the implications of these findings for the etiology and therapy of T-... BeFree 25486566 Detail
0.003 Precursor Cell Lymphoblastic Leukemia Lymphoma NA BeFree,LHGDN Detail
<0.001 Leukemia, B-Cell NA BeFree Detail
<0.001 Mesial temporal sclerosis NA BeFree Detail
0.121 liver carcinoma NA BeFree,CTD_human Detail
<0.001 Prothrombin G20210A mutation ATD co-occurred with the factor-V-Leiden mutation in one and the prothrombin G20... BeFree 24966143 Detail
<0.001 SPHEROCYTOSIS, TYPE 1 (disorder) NA BeFree Detail
0.001 Pancreatic carcinoma, familial NA BeFree Detail
<0.001 Nasopharyngeal carcinoma NA BeFree Detail
<0.001 Early-Stage Breast Carcinoma To test this hypothesis, we investigated 1406 ER(+) early-stage breast cancers w... BeFree 25111287 Detail
<0.001 Early-Stage Breast Carcinoma Our study was designed to investigate the influence of ATM protein in both tumor... BeFree 25935535 Detail
<0.001 Laryngopharyngeal Cancer NA BeFree Detail
<0.001 Ischemic Cerebrovascular Accident NA BeFree Detail
0.003 myelodysplastic syndrome NA BeFree,LHGDN Detail
0.002 FANCONI ANEMIA, COMPLEMENTATION GROUP A (disorder) NA BeFree Detail
<0.001 alpha-1-Antitrypsin Deficiency, Autosomal Recessive NA BeFree Detail
<0.001 Triple Negative Breast Neoplasms NA BeFree Detail
<0.001 Autosomal recessive primary microcephaly NA BeFree Detail
0.003 Infection NA LHGDN Detail
<0.001 Pneumonitis NA BeFree Detail
<0.001 Hodgkin's disease in children NA BeFree Detail
<0.001 Lymphoblastic leukemia in children NA BeFree Detail
0.001 Radiation Damage NA BeFree Detail
<0.001 adenocarcinoma NA BeFree Detail
0.002 adenoma In particular, MLH1, ATM and FHIT gene promoters were found to be significantly ... BeFree 25091577 Detail
<0.001 Adrenal Gland Neoplasms NA BeFree Detail
<0.001 alpha-Thalassemia Recent data has also revealed the potential relevance of transcription factors s... BeFree 24375390 Detail
<0.001 Alzheimer's disease We studied the ability of the AT1 receptor antagonist losartan to cure or preven... BeFree 24807206 Detail
<0.001 anemia NA BeFree Detail
0.005 Anoxia NA LHGDN Detail
0.001 arteriosclerosis NA BeFree Detail
<0.001 arthritis NA BeFree Detail
<0.001 rheumatoid arthritis NA BeFree Detail
0.001 asthma To validate the association, we enrolled a second cohort comprising AERD (n = 26... BeFree 25536158 Detail
<0.001 Astrocytoma NA BeFree Detail
0.003 Ataxia NA BeFree Detail
0.709 ataxia telangiectasia The characterized defect in AT is a mutation in the ataxia telangiectasia mutate... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 24568663 Detail
0.709 ataxia telangiectasia High-throughput screens using ATM promoter activation will be helpful for therap... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 24927134 Detail
0.709 ataxia telangiectasia Ataxia telangiectasia is a neurodegenerative inherited disease with chromosomal ... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 24970375 Detail
0.709 ataxia telangiectasia Increased radioresistance to X-rays as well as carbon ions was observed in gliob... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 24991884 Detail
0.709 ataxia telangiectasia Loss of ataxia telangiectasia mutated (ATM) kinase, a key factor of the DNA dama... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25032865 Detail
0.709 ataxia telangiectasia There has been significant progress in understanding why cancer and immunodefici... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25038946 Detail
0.709 ataxia telangiectasia Among the plethora of signal and effector proteins involved in DDR, three relate... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25138084 Detail
0.709 ataxia telangiectasia Dysfunction in Ataxia-telangiectasia mutated (ATM), a central component of the D... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25692705 Detail
0.709 ataxia telangiectasia Germline ATM inactivation causes ataxia-telangiectasia (A-T) syndrome with sever... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25721125 Detail
0.709 ataxia telangiectasia Using western blotting it was shown that GA inhibited the protein expressions of... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25862863 Detail
0.709 ataxia telangiectasia Ataxia telangiectasia (AT) is caused by a mutation in the ataxia-telangiectasia-... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25868131 Detail
0.709 ataxia telangiectasia Differently, trichostatin-A post-treatment causing hyperacetylation of histone t... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 25942615 Detail
0.709 ataxia telangiectasia Androgen receptor (AR) plays a role in maintaining telomere stability in prostat... BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,ORPHANET,UNIPROT 26336104 Detail
0.002 atherosclerosis NA BeFree Detail
<0.001 Tooth Attrition NA BeFree Detail
<0.001 autistic disorder NA BeFree Detail
0.001 beta thalassemia NA BeFree Detail
0.008 Malignant neoplasm of urinary bladder In contrast, a bladder cancer cell line cotreated with ATM and replication inhib... BeFree,GAD 25043304 Detail
0.008 Malignant neoplasm of urinary bladder The ATM inhibitor KU55933 sensitizes radioresistant bladder cancer cells with DA... BeFree,GAD 25585815 Detail
0.120 Bladder Neoplasm NA CTD_human Detail
<0.001 Blast Phase NA BeFree Detail
0.004 Bloom syndrome NA BeFree,LHGDN Detail
0.006 Brain Neoplasms NA BeFree,GAD Detail
0.128 Malignant neoplasm of breast Here, we address two related questions: (1) are some rare MRN variants intermedi... BeFree,GAD 24894818 Detail
0.128 Malignant neoplasm of breast Previously, it was reported that TGFβ downregulates the expression of ataxia tel... BeFree,GAD 25103497 Detail
0.128 Malignant neoplasm of breast Targeting BRCA1-BER deficient cells by blockade of ATM and DNA-PKcs could be a p... BeFree,GAD 25205036 Detail
0.128 Malignant neoplasm of breast Low nuclear ATM protein level was significantly associated with aggressive breas... BeFree,GAD 25425972 Detail
0.128 Malignant neoplasm of breast Finally, miR-203 may be responsible for downregulation of ATM in breast cancers. BeFree,GAD 25742469 Detail
0.128 Malignant neoplasm of breast In women of Adygei Republic, ATA/GCA gaplotypes are associated with high risk fa... BeFree,GAD 25778657 Detail
0.128 Malignant neoplasm of breast Oxidative stress shapes breast cancer phenotype through chronic activation of AT... BeFree,GAD 25862169 Detail
0.128 Malignant neoplasm of breast Notch1 and ATM activation are inversely correlated in human breast cancers, and ... BeFree,GAD 25895060 Detail
0.128 Malignant neoplasm of breast Low ATM protein expression in malignant tumor as well as cancer-associated strom... BeFree,GAD 25935535 Detail
0.128 Malignant neoplasm of breast WBC's DNA was the focus of several case-control studies at both genome wide and ... BeFree,GAD 26076810 Detail
<0.001 Cachexia NA BeFree Detail
0.001 Malignant tumor of colon NA BeFree Detail
0.001 Malignant neoplasm of endometrium ATM expression was negatively correlated with pathological grades in type I endo... BeFree 25608836 Detail
0.001 Malignant neoplasm of endometrium We sought to validate the clinicopathologic implications and prognostic signific... BeFree 26144601 Detail
0.001 Malignant neoplasm of thyroid Our results suggest that genetic polymorphisms of ATM may play an important role... BeFree 25196645 Detail
0.001 Malignant neoplasm of thyroid Inhibition of HMGA expression in thyroid cancer cells reduces levels of ATM prot... BeFree 25409711 Detail
<0.001 Bronchioloalveolar Adenocarcinoma NA BeFree Detail
0.004 Non-small cell lung carcinoma NA BeFree,GAD Detail
0.047 breast carcinoma A polymorphism at codon 655 (ATC/isoleucine to GTC/valine [Ile655Val], rs1801200... BeFree 17687647 Detail
0.002 Carcinoma, Papillary NA GAD Detail
0.128 Malignant neoplasm of breast A polymorphism at codon 655 (ATC/isoleucine to GTC/valine [Ile655Val], rs1801200... BeFree 17687647 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
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8-ADEQ‑induced G₂/M arrest is mediated by the activation of both Chk1/2-Cdc25 and p53-p21CIP1/WAF1 v... DisGeNET Detail
However, the upregulation of miR-18a suppressed the level of ataxia-telangiectasia mutated and atten... DisGeNET Detail
NA DisGeNET Detail
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There was significant increase in unstable CA yields for both ATM mutation carrier and A-T LCLs at 1... DisGeNET Detail
A robust response to ODN+IL-15 was positively linked to presence of chromosomal anomalies (trisomy-1... DisGeNET Detail
However, like FXS alleles, FRDA alleles show significantly elevated levels of chromosome abnormaliti... DisGeNET Detail
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ATM might be a promising indicator for endometrial hyperplasia and cancer. DisGeNET Detail
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High resistance to X-rays and therapeutic carbon ions in glioblastoma cells bearing dysfunctional AT... DisGeNET Detail
Immunohistochemical analysis of 7 biomarkers on a series of 21 PIGCTs (germinomas and other subtypes... DisGeNET Detail
MutL homolog 1 contributes to temozolomide-induced autophagy via ataxia-telangiectasia mutated in gl... DisGeNET Detail
Angiotensin II, acting through its AT1 receptor, plays a critical role in generation of proteinuria ... DisGeNET Detail
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DNA damage signaling proteins including ATR, ATM and BRCA1 contribute to multiple steps in the HIV-1... DisGeNET Detail
NA DisGeNET Detail
A novel manganese-dependent ATM-p53 signaling pathway is selectively impaired in patient-based neuro... DisGeNET Detail
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Angiotensin II, acting through its AT1 receptor, plays a critical role in generation of proteinuria ... DisGeNET Detail
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The ATC haplotype of TLR3 was associated with a decreased risk of ESRD. DisGeNET Detail
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Germline ATM inactivation causes ataxia-telangiectasia (A-T) syndrome with severe lymphocytopenia an... DisGeNET Detail
The role of ATM mutations and 11q deletions in disease progression in chronic lymphocytic leukemia. DisGeNET Detail
ATM mutation rather than BIRC3 deletion and/or mutation predicts reduced survival in 11q-deleted chr... DisGeNET Detail
Evidence suggests that tumor suppressor genes other than ATM are likely to be involved in CLL with d... DisGeNET Detail
The B-CLL fluorescence in situ hybridization (FISH) panel comprised ATM, CEP12, D13S25, and TP53 pro... DisGeNET Detail
In contrast, NOTCH1 or K/N-RAS mutated CLL displayed normal responses in p53/ATM target gene inducti... DisGeNET Detail
The in vitro treatment of primary B-CLL cells with the activator of p53 Nutlin-3 induced the transcr... DisGeNET Detail
A robust response to ODN+IL-15 was positively linked to presence of chromosomal anomalies (trisomy-1... DisGeNET Detail
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Further SNPs associated with CRC risk included several previously reported to be associated with can... DisGeNET Detail
Further SNPs associated with CRC risk included several previously reported to be associated with can... DisGeNET Detail
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Although EμCyclinD1 is not sufficient to induce lymphomas, EμCyclinD1 accelerates the kinetics and i... DisGeNET Detail
While the findings generated here warrant independent validation, the results of our large study sug... DisGeNET Detail
Aberrant TCRδ rearrangement underlies the T-cell lymphocytopenia and t(12;14) translocation associat... DisGeNET Detail
NA DisGeNET Detail
We report that persistent accumulation of DNA damage/strand breaks and chronic activation of the ser... DisGeNET Detail
There was inverse correlation between miR-181a and ATM protein expression in gastric cancer and norm... DisGeNET Detail
Loss-of-function variants in ATM confer risk of gastric cancer. DisGeNET Detail
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ATM mRNA was associated with poor metastasis-free survival (MFS) (P=0.00012) on univariate analysis. DisGeNET Detail
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Selenite activates the ATM kinase-dependent DNA repair pathway in human osteosarcoma cells with mito... DisGeNET Detail
The wild-type p53-induced phosphatase 1 (WIP1) is a serine/threonine phosphatase that negatively reg... DisGeNET Detail
The expression patterns of the key DNA damage response-related proteins, ataxia-telangiectasia and t... DisGeNET Detail
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Venous thromboembolism [TE] is a multifactorial disease and antithrombin deficiency [ATD] constitute... DisGeNET Detail
NA DisGeNET Detail
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ATM activation (pATM(Ser1981)) increased 4-fold in the tubulointerstitial region of the unilateral u... DisGeNET Detail
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Mechanisms that can promote peripheral B-cell lymphoma in ATM-deficient mice. DisGeNET Detail
Early B-cell-specific inactivation of ATM synergizes with ectopic CyclinD1 expression to promote pre... DisGeNET Detail
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In humans, ATM deficiency predisposes to B- and T-cell lymphomas, but in mice it leads only to thymi... DisGeNET Detail
Germline ATM inactivation causes ataxia-telangiectasia (A-T) syndrome with severe lymphocytopenia an... DisGeNET Detail
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Furthermore, TGF-β1/ATM-initiated paracrine factor secretion by dysfunctional renal epithelium promo... DisGeNET Detail
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The present study aimed to explore the effects of ATDC gene silencing on the growth and proliferatio... DisGeNET Detail
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This assay of ATM promoter activity identified biological agents capable of controlling cellular DNA... DisGeNET Detail
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The clinical significances of p-ATR and p-ATM protein expression were evaluated in terms of tumor pr... DisGeNET Detail
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However, haplotype ATA extracted from 1082G/A, -819C/T, -592C/A polymorphisms of IL-10 were more pre... DisGeNET Detail
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Recent data has also revealed the potential relevance of transcription factors such as death domain-... DisGeNET Detail
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Even before the identification of ATM mutations, it was clear that other diseases with different gen... DisGeNET Detail
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Genetically engineered models of papillary and undifferentiated (anaplastic) thyroid carcinoma (PTC ... DisGeNET Detail
Single nucleotide polymorphisms of ataxia telangiectasia mutated and the risk of papillary thyroid c... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Effect of single nucleotide polymorphism Rs189037 in ATM gene on risk of lung cancer in Chinese: a c... DisGeNET Detail
Ataxia-telangiectasia mutated (ATM) participates in the regulation of ionizing radiation-induced cel... DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
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In this longitudinal clinical study, we observed that neither the outcome of nonsurgical periodontal... DisGeNET Detail
NA DisGeNET Detail
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Venous thromboembolism [TE] is a multifactorial disease and antithrombin deficiency [ATD] constitute... DisGeNET Detail
Herein we identified a KRAS Q22K mutation and frameshift mutations in the genes encoding serine/thre... DisGeNET Detail
NA DisGeNET Detail
Especially, the ACC, ACT, and ATC haplotypes derived from the TBX21 gene would increase the suscepti... DisGeNET Detail
Associations of ATM Polymorphisms With Survival in Advanced Esophageal Squamous Cell Carcinoma Patie... DisGeNET Detail
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Resveratrol analogue (E)-8-acetoxy-2-[2-(3,4-diacetoxyphenyl)ethenyl]-quinazoline induces G₂/M cell ... DisGeNET Detail
However, the upregulation of miR-18a suppressed the level of ataxia-telangiectasia mutated and atten... DisGeNET Detail
NA DisGeNET Detail
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A synthetic lethal screen reveals enhanced sensitivity to ATR inhibitor treatment in mantle cell lym... DisGeNET Detail
Together these findings define a synergistic function of ATM and CyclinD1 in pre-GC B-cell prolifera... DisGeNET Detail
Whether adjusted for MCL International Prognostic Index (MIPI) or not, deletions of RB1, CDKN2A, TP5... DisGeNET Detail
NA DisGeNET Detail
However, only about 20% of familial breast cancer is attributed to mutations in BRCA1 and BRCA2, whi... DisGeNET Detail
NA DisGeNET Detail
Moreover, aberrations of BRCA2, BRCA1, and ATM were observed at substantially higher frequencies (19... DisGeNET Detail
In addition, it was recently shown that aberrations in DNA repair genes, such as BRCA2 and ATM, are ... DisGeNET Detail
NA DisGeNET Detail
The odds ratio of people having one ATA haplotype was 6.233 (95% CI, 0.739-52.547) in healthy volunt... DisGeNET Detail
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ATM expression was negatively correlated with pathological grades in type I endometrial cancer. DisGeNET Detail
We sought to validate the clinicopathologic implications and prognostic significance of ATR (ataxia ... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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NA DisGeNET Detail
Our results suggest that genetic polymorphisms of ATM may play an important role in the development ... DisGeNET Detail
Inhibition of HMGA expression in thyroid cancer cells reduces levels of ATM protein, the main cellul... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
ATD co-occurred with the factor-V-Leiden mutation in one and the prothrombin G20210A mutation in two... DisGeNET Detail
NA DisGeNET Detail
Selenite activates the ATM kinase-dependent DNA repair pathway in human osteosarcoma cells with mito... DisGeNET Detail
ATM may be a protective factor in endometrial carcinogenesis with the progesterone pathway. DisGeNET Detail
Since the ATM-dependent cell-cycle checkpoint is an important block to carcinogenesis, such inactiva... DisGeNET Detail
NA DisGeNET Detail
Together these findings define a synergistic function of ATM and CyclinD1 in pre-GC B-cell prolifera... DisGeNET Detail
NA DisGeNET Detail
Moreover, aberrations of BRCA2, BRCA1, and ATM were observed at substantially higher frequencies (19... DisGeNET Detail
In addition, it was recently shown that aberrations in DNA repair genes, such as BRCA2 and ATM, are ... DisGeNET Detail
NA DisGeNET Detail
Ataxia-Telangiectasia and RAD3-Related and Ataxia-Telangiectasia-Mutated Proteins in Epithelial Ovar... DisGeNET Detail
Here, we address two related questions: (1) are some rare MRN variants intermediate-risk breast canc... DisGeNET Detail
Previously, it was reported that TGFβ downregulates the expression of ataxia telangiectasia-mutated ... DisGeNET Detail
Targeting BRCA1-BER deficient cells by blockade of ATM and DNA-PKcs could be a promising strategy in... DisGeNET Detail
Low nuclear ATM protein level was significantly associated with aggressive breast cancer including l... DisGeNET Detail
Finally, miR-203 may be responsible for downregulation of ATM in breast cancers. DisGeNET Detail
In women of Adygei Republic, ATA/GCA gaplotypes are associated with high risk factors for breast can... DisGeNET Detail
Oxidative stress shapes breast cancer phenotype through chronic activation of ATM-dependent signalin... DisGeNET Detail
Notch1 and ATM activation are inversely correlated in human breast cancers, and inactivation of ATM ... DisGeNET Detail
Low ATM protein expression in malignant tumor as well as cancer-associated stroma are independent pr... DisGeNET Detail
WBC's DNA was the focus of several case-control studies at both genome wide and candidate gene level... DisGeNET Detail
Effect of single nucleotide polymorphism Rs189037 in ATM gene on risk of lung cancer in Chinese: a c... DisGeNET Detail
Ataxia-telangiectasia mutated (ATM) participates in the regulation of ionizing radiation-induced cel... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
There was inverse correlation between miR-181a and ATM protein expression in gastric cancer and norm... DisGeNET Detail
Loss-of-function variants in ATM confer risk of gastric cancer. DisGeNET Detail
In contrast, a bladder cancer cell line cotreated with ATM and replication inhibitors progressed mor... DisGeNET Detail
The ATM inhibitor KU55933 sensitizes radioresistant bladder cancer cells with DAB2IP gene defect. DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
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Because of almost absolute linkage disequilibrium observed among all 5 SNPs, association of 2 major ... DisGeNET Detail
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Autoantibodies targeting AT1 receptor from patients with acute coronary syndrome upregulate proinfla... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
The wild-type p53-induced phosphatase 1 (WIP1) is a serine/threonine phosphatase that negatively reg... DisGeNET Detail
The expression patterns of the key DNA damage response-related proteins, ataxia-telangiectasia and t... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
By applying the ICSNPathway analysis to the ADHD GWAS data, 11 candidate SNPs, 6 genes that included... DisGeNET Detail
NA DisGeNET Detail
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Selenite increased the activity of ATM kinase in NARP cybrids and Rho0 cells without concomitant inc... DisGeNET Detail
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Clinicopathological significance of ATM-Chk2 expression in sporadic breast cancers: a comprehensive ... DisGeNET Detail
ATM has a major role in the double-strand break repair pathway dysregulation in sporadic breast carc... DisGeNET Detail
ATM(-/-) mice recapitulate lymphocytopenia of A-T patients and routinely succumb to thymic lymphomas... DisGeNET Detail
Common variants at the 9q22.33, 14q13.3 and ATM loci, and risk of differentiated thyroid cancer in t... DisGeNET Detail
NA DisGeNET Detail
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We used qRT-PCR assay to quantify mRNA levels of ATM gene in 454 breast tumours from patients with k... DisGeNET Detail
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Four tagSNPs of ATM were genotyped in 412 individuals with clinical stage III or IV ESCC receiving r... DisGeNET Detail
NA DisGeNET Detail
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Western blot assay demonstrated total loss of MRE11 and reduction of ATM-dependent phosphorylation; ... DisGeNET Detail
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ATM expression was negatively correlated with pathological grades in type I endometrial cancer. DisGeNET Detail
We sought to validate the clinicopathologic implications and prognostic significance of ATR (ataxia ... DisGeNET Detail
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We conclude that CHK1 is critical for T-ALL proliferation and viability by downmodulating replicatio... DisGeNET Detail
We discuss the implications of these findings for the etiology and therapy of T-ALLs associated with... DisGeNET Detail
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ATD co-occurred with the factor-V-Leiden mutation in one and the prothrombin G20210A mutation in two... DisGeNET Detail
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To test this hypothesis, we investigated 1406 ER(+) early-stage breast cancers with 20 years' long-t... DisGeNET Detail
Our study was designed to investigate the influence of ATM protein in both tumor and cancer-associat... DisGeNET Detail
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In particular, MLH1, ATM and FHIT gene promoters were found to be significantly hypermethylated in r... DisGeNET Detail
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Recent data has also revealed the potential relevance of transcription factors such as death domain-... DisGeNET Detail
We studied the ability of the AT1 receptor antagonist losartan to cure or prevent AD hallmarks in ag... DisGeNET Detail
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To validate the association, we enrolled a second cohort comprising AERD (n = 264), NC (n = 238) and... DisGeNET Detail
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The characterized defect in AT is a mutation in the ataxia telangiectasia mutated (ATM) gene. DisGeNET Detail
High-throughput screens using ATM promoter activation will be helpful for therapeutic development in... DisGeNET Detail
Ataxia telangiectasia is a neurodegenerative inherited disease with chromosomal instability and hype... DisGeNET Detail
Increased radioresistance to X-rays as well as carbon ions was observed in glioblastoma cells exhibi... DisGeNET Detail
Loss of ataxia telangiectasia mutated (ATM) kinase, a key factor of the DNA damage response (DDR) pa... DisGeNET Detail
There has been significant progress in understanding why cancer and immunodeficiency occur in ataxia... DisGeNET Detail
Among the plethora of signal and effector proteins involved in DDR, three related kinases ATM (ataxi... DisGeNET Detail
Dysfunction in Ataxia-telangiectasia mutated (ATM), a central component of the DNA repair machinery,... DisGeNET Detail
Germline ATM inactivation causes ataxia-telangiectasia (A-T) syndrome with severe lymphocytopenia an... DisGeNET Detail
Using western blotting it was shown that GA inhibited the protein expressions of MDC1, O(6)-methylgu... DisGeNET Detail
Ataxia telangiectasia (AT) is caused by a mutation in the ataxia-telangiectasia-mutated (ATM) gene; ... DisGeNET Detail
Differently, trichostatin-A post-treatment causing hyperacetylation of histone tails and reducing th... DisGeNET Detail
Androgen receptor (AR) plays a role in maintaining telomere stability in prostate cancer cells, as A... DisGeNET Detail
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In contrast, a bladder cancer cell line cotreated with ATM and replication inhibitors progressed mor... DisGeNET Detail
The ATM inhibitor KU55933 sensitizes radioresistant bladder cancer cells with DAB2IP gene defect. DisGeNET Detail
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Here, we address two related questions: (1) are some rare MRN variants intermediate-risk breast canc... DisGeNET Detail
Previously, it was reported that TGFβ downregulates the expression of ataxia telangiectasia-mutated ... DisGeNET Detail
Targeting BRCA1-BER deficient cells by blockade of ATM and DNA-PKcs could be a promising strategy in... DisGeNET Detail
Low nuclear ATM protein level was significantly associated with aggressive breast cancer including l... DisGeNET Detail
Finally, miR-203 may be responsible for downregulation of ATM in breast cancers. DisGeNET Detail
In women of Adygei Republic, ATA/GCA gaplotypes are associated with high risk factors for breast can... DisGeNET Detail
Oxidative stress shapes breast cancer phenotype through chronic activation of ATM-dependent signalin... DisGeNET Detail
Notch1 and ATM activation are inversely correlated in human breast cancers, and inactivation of ATM ... DisGeNET Detail
Low ATM protein expression in malignant tumor as well as cancer-associated stroma are independent pr... DisGeNET Detail
WBC's DNA was the focus of several case-control studies at both genome wide and candidate gene level... DisGeNET Detail
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ATM expression was negatively correlated with pathological grades in type I endometrial cancer. DisGeNET Detail
We sought to validate the clinicopathologic implications and prognostic significance of ATR (ataxia ... DisGeNET Detail
Our results suggest that genetic polymorphisms of ATM may play an important role in the development ... DisGeNET Detail
Inhibition of HMGA expression in thyroid cancer cells reduces levels of ATM protein, the main cellul... DisGeNET Detail
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A polymorphism at codon 655 (ATC/isoleucine to GTC/valine [Ile655Val], rs1801200) in the transmembra... DisGeNET Detail
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A polymorphism at codon 655 (ATC/isoleucine to GTC/valine [Ile655Val], rs1801200) in the transmembra... 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
-
dbSNP
rs1801200 dbSNP
Genome
hg19
Position
chr11:108,093,531-108,239,829
Variant Type
snv
Variant (CIViC) (CIViC Variant)
LOSS-OF-FUNCTION
Variant URL (CIViC Variant)
https://civic.genome.wustl.edu/links/variants/2236
Genome browser