ATR, ATR serine/threonine kinase, 545

N. diseases: 321; N. variants: 38
Disease: Seckel syndrome 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
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
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		0.610 Biomarker disease CTD_human
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		0.610 CausalMutation disease CLINVAR
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		0.610 GeneticVariation disease CLINVAR
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		0.610 Biomarker disease GENOMICS_ENGLAND
CUI: C4551474
Disease: Seckel syndrome 1
Seckel syndrome 1 		0.610 Biomarker disease GENOMICS_ENGLAND