ATR, ATR serine/threonine kinase, 545

N. diseases: 321; N. variants: 38
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 GeneticVariation disease BEFREE Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome. 30199583 2018
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 GeneticVariation disease BEFREE Altogether these data elucidate the molecular mechanisms of the ATR c.2101A>G mutation and identify two potential complementary RNA-based therapies for Seckel syndrome. 27639833 2017
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 Biomarker disease BEFREE Mutations in ATR(ataxia telangiectasia and RAD3-related) cause Seckel syndrome (ATR-SS), a microcephalic primordial dwarfism disorder. 26908596 2016
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 GeneticVariation disease BEFREE Mutations in ATR, which also functions during replication, can cause Seckel syndrome, a clinically related disorder. 23516378 2013
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 GeneticVariation disease BEFREE However, the only human genetic ATR defect reported so far is a hypomorphic splicing mutation identified in five related individuals with Seckel syndrome. 23111928 2013
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 Biomarker disease BEFREE Coupled with the identification of further ATR-deficient patients, our findings allow a spectrum of clinical features that can be ascribed to the ATR-ATRIP deficient sub-class of Seckel Syndrome. 23144622 2012
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 GeneticVariation disease BEFREE Previously, autosomal-recessive loss-of-function mutations in ATR have been demonstrated in Seckel syndrome, a developmental disorder. 22341969 2012
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 Biomarker disease BEFREE Microcephalic osteodysplastic primordial dwarfism type II protein PCNT and Seckel syndrome (also characterized by severe microcephaly) protein ATR are also centrosomal proteins. 21633703 2011
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 Biomarker disease BEFREE Seckel syndrome is associated with defective ATR dependent DNA damage signalling. 19643772 2010
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 Biomarker disease BEFREE We highlight a previous study from our laboratory demonstrating that UV-exposed, ATR-deficient Seckel syndrome fibroblasts, like XPV fibroblasts, manifest strong attenuation of GG-NER uniquely in S phase populations. 20457011 2010
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 GeneticVariation disease BEFREE Although primary microcephaly can be caused by mutations in microcephalin (MCPH1), cells from patients with Seckel syndrome and MOPD II harbor mutations in ataxia telangiectasia and Rad3 related (ATR) or pericentrin (PCNT), leading to disturbed ATR signaling. 19546241 2009
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 GeneticVariation disease BEFREE Recently, more sophisticated mouse models have been published including a conditional ATR-knockdown system and by modelling the human ATR-Seckel syndrome-causative mutation. 19782648 2009
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 GeneticVariation disease BEFREE Furthermore, we find that cells of individuals with Seckel syndrome due to mutations in PCNT (PCNT-Seckel) have defects in ATR-dependent checkpoint signaling, providing the first evidence linking a structural centrosomal protein with DNA damage signaling. 18157127 2008
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 GeneticVariation disease BEFREE While NBS shares overlapping characteristics with ataxia telangiectasia, it also has features overlapping with ATR-Seckel (ATR: ataxia-telangiectasia and Rad3-related protein) syndrome, a subclass of Seckel syndrome mutated in ATR. 15616588 2005
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 GermlineCausalMutation disease ORPHANET A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. 12640452 2003
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 Biomarker disease MGD
CUI: C0265202
Disease: Seckel syndrome
Seckel syndrome
0.800 Biomarker disease GENOMICS_ENGLAND
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
0.700 GermlineCausalMutation disease ORPHANET Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome. 22341969 2012
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
0.700 GeneticVariation disease UNIPROT Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome. 22341969 2012
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
0.700 Biomarker disease GENOMICS_ENGLAND Ultrastructure and three-dimensional organization of the telangiectases of hereditary hemorrhagic telangiectasia. 2212727 1990
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
0.700 Biomarker disease CTD_human
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
0.700 Biomarker disease GENOMICS_ENGLAND
CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
0.700 CausalMutation disease CLINVAR
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1
0.610 AlteredExpression disease BEFREE However, homozygous SCKL1 mice that retain the neo cassette used for targeting have an estimated 66-82% reduction in total Atr protein levels due to missplicing into the neo cassette. 19504344 2009
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1
0.610 Biomarker disease GENOMICS_ENGLAND A splicing mutation affecting expression of ataxia-telangiectasia and Rad3-related protein (ATR) results in Seckel syndrome. 12640452 2003