CHEK2, checkpoint kinase 2, 11200

N. diseases: 297; N. variants: 261
Disease: Thyroid carcinoma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.130 GeneticVariation disease BEFREE Correction to: Absence of EIF1AX, PPM1D, and CHEK2 mutations reported in Thyroid Cancer Genome Atlas (TCGA) in a large series of thyroid cancer. 31240458 2019
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.130 Biomarker disease BEFREE Except for a rare A113_splice site mutation in EIF1AX, other recently described somatic mutations in EIF1AX, PPM1D, and CHEK2 were absent in this large series of patients with TC from a different racial group (Saudi Arabia). 30269267 2019
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.130 GeneticVariation disease BEFREE These results suggest that CHEK2 mutations predispose to thyroid cancer, familial aggregations of breast and thyroid cancer and to double primary cancers of the breast and thyroid. 25583358 2015
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma 		0.130 CausalMutation disease CLINVAR