rs7080536, HABP2;NRAP

N. diseases: 27
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Cardiac troponin I measurement
CUI: C0883409
Disease: Cardiac troponin I measurement
0.700 GeneticVariation GWASCAT Cardiac Troponin T and Troponin I in the General Population. 31014085 2019
Eosinophil count procedure
CUI: C0200638
Disease: Eosinophil count procedure
0.700 GeneticVariation GWASCAT Leveraging Polygenic Functional Enrichment to Improve GWAS Power. 30595370 2019
Blood Protein Measurement
CUI: C2985280
Disease: Blood Protein Measurement
0.700 GeneticVariation GWASCAT Genomic atlas of the human plasma proteome. 29875488 2018
Eosinophil count procedure
CUI: C0200638
Disease: 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 CANCER, NONMEDULLARY, 5
CUI: C4225292
Disease: THYROID CANCER, NONMEDULLARY, 5
0.700 GeneticVariation UNIPROT
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
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
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
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
Malignant neoplasm of thyroid
CUI: C0007115
Disease: 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
CUI: C0549473
Disease: 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
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
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
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
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
Malignant neoplasm of thyroid
CUI: C0007115
Disease: 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
Malignant neoplasm of thyroid
CUI: C0007115
Disease: 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
Thyroid carcinoma
CUI: C0549473
Disease: 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
Thyroid carcinoma
CUI: C0549473
Disease: 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
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
Malignant neoplasm of thyroid
CUI: C0007115
Disease: 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
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
Thyroid carcinoma
CUI: C0549473
Disease: 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