ATM, ATM serine/threonine kinase, 472

N. diseases: 684; N. variants: 974
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease BEFREE Taken together, <i>t</i>RA combined with an ATM inhibitor can greatly enhance the anti-angiogenic activity of SerRS under UV irradiation and could be a better strategy in protecting skin from angiogenesis-associated skin damage and melanoma caused by UV radiation. 31766690 2019
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Loss-of-function melanocortin 1 receptor (MC1R) polymorphisms are common in UV-sensitive fair-skinned individuals and are associated with blunted cAMP second messenger signalling and higher lifetime risk of melanoma because of diminished ability of melanocytes to cope with UV damage. cAMP signalling positions melanocytes to resist UV injury by upregulating synthesis of UV-blocking eumelanin pigment and by enhancing the repair of UV-induced DNA damage. cAMP enhances melanocyte nucleotide excision repair (NER), the genome maintenance pathway responsible for the removal of mutagenic UV photolesions, through cAMP-activated protein kinase (protein kinase A)-mediated phosphorylation of the ataxia telangiectasia-mutated and Rad3-related (ATR) protein on the S435 residue. 28094871 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease GWASCAT Two-stage genome-wide association study identifies a novel susceptibility locus associated with melanoma. 28212542 2017
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE A novel ATM-dependent checkpoint defect distinct from loss of function mutation promotes genomic instability in melanoma. 26854966 2016
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Finally, rs1801516, located on the ATM gene, showed a trend towards a protective role in MM similar to the one firstly described in a GWAS study. 23537197 2013
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease BEFREE Transcripts associated with BRCA1, BRCA2, ATM and CHEK2 showed altered expression in melanoma cell lines after cisplatin treatment. 23940574 2013
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease CTD_human Genome-wide association study identifies three new melanoma susceptibility loci. 21983787 2011
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease GWASDB Genome-wide association study identifies three new melanoma susceptibility loci. 21983787 2011
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease GWASCAT Genome-wide association study identifies three new melanoma susceptibility loci. 21983787 2011
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease BEFREE Like human melanomas, we showed that murine melanomas also express the AT1 receptor. 19771429 2010
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE Pretreatment of several melanoma lines just before gamma-irradiation with the inhibitor of ATM kinase KU-55933 suppressed p53 and nuclear factor-kappaB (NF-kappaB) activation but notably increased radiation-induced DR5 surface expression, down-regulated cFLIP (caspase-8 inhibitor) levels, and substantially enhanced exogenous TRAIL-induced apoptosis. 19351839 2009
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE In line with efforts to identify genes that are key regulators of the disease and as such, may prove valuable targets for adjuvant and neo-adjuvant therapy of melanomas, we previously reported the presence of Serial Analysis of Gene Expression (SAGE) tags, corresponding to the Ataxia Telangiectasia Mutated (ATM) gene, in SAGE libraries generated from tissues representing primary and metastatic melanomas. 19684476 2009
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease BEFREE Multifactorially adjusted hazard ratios for ATM Ser49Cys heterozygotes versus noncarriers were 1.2 (95% CI, 0.9 to 1.5) for cancer overall, 0.8 (95% CI, 0.3 to 2.0) for breast cancer, 4.8 (95% CI, 2.2 to 11) for melanoma, 2.3 (95% CI, 1.1 to 5.0) for prostate cancer, and 3.4 (95% CI, 1.1 to 11) for cancer of the oral cavity/pharynx. 18565893 2008
CUI: C0025202
Disease: melanoma
melanoma
0.500 AlteredExpression disease BEFREE Here, we demonstrate that tyrosinase which is commonly overexpressed in melanoma activates the bioflavonoid quercetin (Qct) and promotes an ataxia telangiectasia mutated (ATM)-dependent DNA damage response. 18791269 2008
CUI: C0025202
Disease: melanoma
melanoma
0.500 Biomarker disease BEFREE Ataxia telangiectasia-mutated gene is a possible biomarker for discrimination of infiltrative deep penetrating nevi and metastatic vertical growth phase melanoma. 18006941 2007
CUI: C0025202
Disease: melanoma
melanoma
0.500 GeneticVariation disease CLINVAR