rs7080536
|
HABP2;NRAP
|
THYROID CANCER, NONMEDULLARY, 5
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs7080536
|
HABP2;NRAP
|
Eosinophil count procedure
|
|
0.700 |
GeneticVariation |
GWASCAT |
Leveraging Polygenic Functional Enrichment to Improve GWAS Power.
|
30595370 |
2019 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
Familial Nonmedullary Thyroid Gland Carcinoma
|
|
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 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
Malignant neoplasm of thyroid
|
|
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 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
Thyroid carcinoma
|
|
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 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
Thyroid carcinoma
|
|
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 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
Fibrosis, Liver
|
|
0.030 |
GeneticVariation |
BEFREE |
A single nucleotide polymorphism (G534E, Marburg I, MI-SNP) in the gene encoding FSAP (HABP2) leads to lower enzymatic activity and is associated with enhanced liver fibrosis in humans.
|
22989567 |
2013 |
rs7080536
|
HABP2;NRAP
|
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 |
rs7080536
|
HABP2;NRAP
|
Fibrosis, Liver
|
|
0.030 |
GeneticVariation |
BEFREE |
The G534E variant of FSAP is a risk locus for HCV-induced liver fibrosis and cirrhosis by determining PDGF-BB-mediated hepatic stellate cell proliferation through a single amino acid substitution in FSAP.
|
19105210 |
2009 |