rs7080536, HABP2;NRAP

N. diseases: 27
Disease: Thyroid Neoplasm ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.040 GeneticVariation BEFREE Recently, the G534E variant in the HABP2 gene has been suggested as causative mutation for familial thyroid cancer, but other studies gave contradictory results. 27873212 2017
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.040 GeneticVariation BEFREE Heterozygosity for the G534E variant in HABP2 was present in 7.6 % of Busselton Health Study participants (N = 4634, unknown disease status) and 9.3 % of TwinsUK participants (N = 1195, no history of thyroid cancer). 27530615 2016
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.040 GeneticVariation BEFREE These results are consistent with HABP2 G534E being a susceptibility gene in a subgroup of FNMTC, providing important diagnostic implications for this hereditary thyroid cancer. 26832773 2016
Thyroid Neoplasm
CUI: C0040136
Disease: Thyroid Neoplasm
0.040 GeneticVariation BEFREE The G534E variant has also been reported to occur in about 4.7% of cases of the Thyroid Cancer Genome Atlas (TCGA) database. 26906432 2016