CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Li-Fraumeni Syndrome 2 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND Constitutional mutations of the CHEK2 gene are a risk factor for MDS, but not for de novo AML. 29902706 2018
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		0.700 GeneticVariation disease UNIPROT Destabilization of CHK2 by a missense mutation associated with Li-Fraumeni Syndrome. 11719428 2001
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		0.700 Biomarker disease CTD_human
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		0.700 CausalMutation disease CLINVAR
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		0.700 GeneticVariation disease CLINVAR
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C1836482
Disease: Li-Fraumeni Syndrome 2
Li-Fraumeni Syndrome 2 		0.700 Biomarker disease GENOMICS_ENGLAND