Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.040 GeneticVariation BEFREE Two HABP2 variants (p.E393Q and p.G534E) were identified in the index patient from one family with papillary thyroid carcinoma (PTC) (follicular variant). 29895015 2018
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.040 GeneticVariation BEFREE Five of 170 healthy Brazilian individuals with no family history of BC or PTC and three of 50 sporadic PTC presented the p.G534E. 28402931 2017
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.040 GeneticVariation BEFREE The HABP2 G534E variant (rs7080536) was genotyped in blood DNA from 179 PTC families (one affected individual per family), 1160 sporadic PTC cases and 1395 controls. 26745718 2016
Papillary thyroid carcinoma
CUI: C0238463
Disease: Papillary thyroid carcinoma
0.040 GeneticVariation BEFREE The overall prevalence of HABP2 G534E was six per 43 (14.0%) PTC patients from the 29 kindreds and four per 29 (13.8%) kindreds. 26832773 2016