Source: CURATED

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 GeneticVariation ORPHANET Although CHEK2 is no longer recognized as a major determinant of the Li-Fraumeni syndrome, a hereditary condition predisposing to cancer at multiple sites, it cannot be ruled out that mutations of this gene play a role in malignancies arising in peculiar multi-cancer families. 21562711

2011
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 Biomarker CTD_human Our observations support the functional significance of CHK2 mutations in rare cases of LFS and suggest that such mutations may substitute for inactivation of TP53. 11719428

2001
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 GeneticVariation ORPHANET Our observations support the functional significance of CHK2 mutations in rare cases of LFS and suggest that such mutations may substitute for inactivation of TP53. 11719428

2001
Entrez Id: 11200
Gene Symbol: CHEK2
CHEK2
CUI: C0085390
Disease: Li-Fraumeni Syndrome
Li-Fraumeni Syndrome 		0.700 Biomarker CTD_human Heterozygous germ line hCHK2 mutations in Li-Fraumeni syndrome. 10617473

1999