|
Cardiac troponin I measurement
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Cardiac Troponin T and Troponin I in the General Population.
|
31014085 |
2019 |
|
Eosinophil count procedure
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
|
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 |
|
Familial Nonmedullary Thyroid Gland Carcinoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
The variant G534E is prevalent in the Spanish population (5.1%); however, p.E393Q is rare (< 1%) and none cosegregated with the FNMTC phenotype.
|
29895015 |
2018 |
|
Blood Protein Measurement
|
|
0.700 |
GeneticVariation
|
GWASCAT |
Genomic atlas of the human plasma proteome.
|
29875488 |
2018 |
|
familial non-medullary thyroid cancer
|
|
0.020 |
GeneticVariation
|
BEFREE |
In the case of HABP2 rs7080536 and familial non-medullary thyroid cancer, these factors led to the conclusion of an association that most data and our re-analysis fail to support, although larger studies from diverse populations will be needed to definitively determine its role.
|
28884020 |
2017 |
|
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 |
|
Malignant neoplasm of breast
|
|
0.010 |
GeneticVariation
|
BEFREE |
HABP2 p.G534E variant in patients with family history of thyroid and breast cancer.
|
28402931 |
2017 |
|
Breast Carcinoma
|
|
0.010 |
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 |
|
Familial Nonmedullary Thyroid Gland Carcinoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
Recently, the G534E variant of the HABP2 gene was reported as the underlying genetic defect in a large kindred with nonsyndromic familial nonmedullary thyroid cancer (FNMTC).
|
28222214 |
2017 |
|
Familial Nonmedullary Thyroid Cancer
|
|
0.020 |
GeneticVariation
|
BEFREE |
Recently, the G534E variant of the HABP2 gene was reported as the underlying genetic defect in a large kindred with nonsyndromic familial nonmedullary thyroid cancer (FNMTC).
|
28222214 |
2017 |
|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
A heterozygous germline variant in the HABP2 gene c.1601G > A (p.Gly534Glu), which negatively impacts its tumor suppressive activity in vitro, has been described in 4-14% of kindreds of European-American ancestry with familial papillary thyroid carcinoma (fPTC).
|
28089742 |
2017 |
|
Malignant neoplasm of thyroid
|
|
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 carcinoma
|
|
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
|
|
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 |
|
familial non-medullary thyroid cancer
|
|
0.020 |
GeneticVariation
|
BEFREE |
HABP2 G534E variation in familial non-medullary thyroid cancer: an Italian series.
|
27873212 |
2017 |
|
Familial (FPAH)
|
|
0.010 |
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 |
|
Eosinophil count procedure
|
|
0.700 |
GeneticVariation
|
GWASCAT |
The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease.
|
27863252 |
2016 |
|
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 carcinoma
|
|
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 |
|
Familial Nonmedullary Thyroid Gland Carcinoma
|
|
0.040 |
GeneticVariation
|
BEFREE |
Sanger sequencing was performed on peripheral blood DNA from probands from 37 Australian FNMTC kindreds to detect the G534E variant.
|
27530615 |
2016 |
|
Malignant neoplasm of thyroid
|
|
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 |
|
Neoplasms
|
|
0.020 |
GeneticVariation
|
BEFREE |
A recent study identified HABP2 as a tumor suppressor gene and identified a germline variant (G534E) in an extended FNMTC kindred.
|
27530615 |
2016 |
|
Fibrosis, Liver
|
|
0.030 |
GeneticVariation
|
BEFREE |
A single nucleotide polymorphism (G534E) in HABP2 leads to lower enzymatic activity and is associated with enhanced liver fibrosis in humans.
|
27462075 |
2016 |
|
Malignant neoplasm of thyroid
|
|
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 |