Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007115
Disease: Malignant neoplasm of thyroid
Malignant neoplasm of thyroid
0.010 Biomarker disease BEFREE In conclusion, germline intronic PARP4 variants could be a risk factor for the development of TC, and PARP4P2 pseudogene variations associated with PARP4 down-regulation may confer susceptibility to develop multiple metachronous cancers. 31203137 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation group BEFREE Moreover, we found a rare variant (r.522C > A) within a PARP4 pseudogene (PARP4P2) in one patient with four primary tumors, and with a familial cancer history. 31203137 2019
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm
0.010 Biomarker disease BEFREE In conclusion, germline intronic PARP4 variants could be a risk factor for the development of TC, and PARP4P2 pseudogene variations associated with PARP4 down-regulation may confer susceptibility to develop multiple metachronous cancers. 31203137 2019
CUI: C0549473
Disease: Thyroid carcinoma
Thyroid carcinoma
0.010 Biomarker disease BEFREE In conclusion, germline intronic PARP4 variants could be a risk factor for the development of TC, and PARP4P2 pseudogene variations associated with PARP4 down-regulation may confer susceptibility to develop multiple metachronous cancers. 31203137 2019
CUI: C1333600
Disease: Hereditary Malignant Neoplasm
Hereditary Malignant Neoplasm
0.010 GeneticVariation disease BEFREE Moreover, we found a rare variant (r.522C > A) within a PARP4 pseudogene (PARP4P2) in one patient with four primary tumors, and with a familial cancer history. 31203137 2019