HABP2, hyaluronan binding protein 2, 3026

N. diseases: 88; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4225292
Disease: THYROID CANCER, NONMEDULLARY, 5
THYROID CANCER, NONMEDULLARY, 5 		0.600 Biomarker disease GENOMICS_ENGLAND Segregation and expression analyses of hyaluronan-binding protein 2 (HABP2): insights from a large series of familial non-medullary thyroid cancers and literature review. 28222214 2017
CUI: C4225292
Disease: THYROID CANCER, NONMEDULLARY, 5
THYROID CANCER, NONMEDULLARY, 5 		0.600 GeneticVariation disease UNIPROT Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer. 26222560 2015
CUI: C4225292
Disease: THYROID CANCER, NONMEDULLARY, 5
THYROID CANCER, NONMEDULLARY, 5 		0.600 GeneticVariation disease UNIPROT Marburg I polymorphism of factor VII--activating protease: a prominent risk predictor of carotid stenosis. 12578864 2003
CUI: C4225292
Disease: THYROID CANCER, NONMEDULLARY, 5
THYROID CANCER, NONMEDULLARY, 5 		0.600 Biomarker disease CTD_human
CUI: C4552766
Disease: Miscarriage
Miscarriage 		0.310 GeneticVariation disease BEFREE Polymorphism in HABP2 showed no significant difference in women with recurrent miscarriage compared to fertile women, except for rs1157916 minor A allele that was more prevalent among RM patients (p = 0.058). 30143058 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.310 Biomarker disease BEFREE We conclude that FSAP Marburg-I genotyping may be used to determine the risk for thromboembolic disorders in patients with suspected thrombophilia and known DVT or PE. 22421107 2012
CUI: C4552766
Disease: Miscarriage
Miscarriage 		0.310 Biomarker disease CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.310 Biomarker disease CTD_human
CUI: C0000786
Disease: Spontaneous abortion
Spontaneous abortion 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C0000822
Disease: Abortion, Tubal
Abortion, Tubal 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C3830362
Disease: Early Pregnancy Loss
Early Pregnancy Loss 		0.300 Biomarker phenotype CTD_human Gene expression in cultured endometrium from women with different outcomes following IVF. 18539642 2008
CUI: C3160733
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT
THROMBOPHILIA DUE TO THROMBIN DEFECT 		0.300 Biomarker phenotype GENOMICS_ENGLAND
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.240 GeneticVariation disease BEFREE Indeed, affected individuals not carrying HABP2<sup>G534E</sup> were identified, and the variant was present also in members without thyroid cancer. 28222214 2017
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.240 GeneticVariation disease 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
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.240 GeneticVariation disease 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
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.240 GeneticVariation disease BEFREE Here, we report a germline variant of HABP2 in seven affected members of a kindred with familial nonmedullary thyroid cancer and in 4.7% of 423 patients with thyroid cancer. 26222560 2015
CUI: C0040136
Disease: Thyroid Neoplasm
Thyroid Neoplasm 		0.240 Biomarker disease RGD Lac color inhibits development of rat thyroid carcinomas through targeting activation of plasma hyaluronan-binding protein. 22715430 2012
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.210 GeneticVariation phenotype BEFREE We found rs11246050 in NLRP6 (dominant model, OR/95% CI: 2.028/1.091-3.769, p = 0.025), rs2286742 and rs3740530 in HABP2 (recessive model, OR/95% CI: 9.644/1.307-71.16, p = 0.026 and 3.989/1.413-11.26, p = 0.009), rs2736098 in TERT (recessive model, OR/95% CI: 2.322/1.028-5.242. p = 0.042) and rs62054619 in GAS8-AS1 (recessive model, OR/95% CI: 2.219/1.067-4.617, p = 0.033) were associated with the risk of PTC. rs1137282 in KRAS (dominant model, OR/95% CI: 0.5430/0.3192-0.9236, p = 0.024), rs1347591 and rs4461062 in NUP93 (dominant model, OR/95% CI: 0.6121/0.4128-0.9076, p = 0.015 and 0.6156/0.4157-0.9117, p = 0.015) were associated with low risk of distant metastatic disease in PTC patients. rs33954691 in TERT was associated with the risk of RR-PTC under dominant model (OR/95% CI: 3.161/1.596-6.262). 30826992 2019
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.210 Therapeutic phenotype RGD Capsular invasive carcinomas (CICs) and lung metastases were decreased by LC treatment and accompanied by transcript downregulation on angiogenesis and PHBP-related tissue proteolysis in CICs. 22715430 2012
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.210 Biomarker disease BEFREE FSAP was observed prominently in alveolar epithelial cells as well as microvascular endothelial cells of the lung parenchyma and was markedly increased at the early phase of bleomycin-induced pulmonary fibrosis, but decreased at the late stage, particularly during the pulmonary fibrosis. 20818495 2010
CUI: C0034069
Disease: Pulmonary Fibrosis
Pulmonary Fibrosis 		0.210 Biomarker disease RGD FSAP was observed prominently in alveolar epithelial cells as well as microvascular endothelial cells of the lung parenchyma and was markedly increased at the early phase of bleomycin-induced pulmonary fibrosis, but decreased at the late stage, particularly during the pulmonary fibrosis. 20818495 2010
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.180 GeneticVariation disease BEFREE We found rs11246050 in NLRP6 (dominant model, OR/95% CI: 2.028/1.091-3.769, p = 0.025), rs2286742 and rs3740530 in HABP2 (recessive model, OR/95% CI: 9.644/1.307-71.16, p = 0.026 and 3.989/1.413-11.26, p = 0.009), rs2736098 in TERT (recessive model, OR/95% CI: 2.322/1.028-5.242. p = 0.042) and rs62054619 in GAS8-AS1 (recessive model, OR/95% CI: 2.219/1.067-4.617, p = 0.033) were associated with the risk of PTC. rs1137282 in KRAS (dominant model, OR/95% CI: 0.5430/0.3192-0.9236, p = 0.024), rs1347591 and rs4461062 in NUP93 (dominant model, OR/95% CI: 0.6121/0.4128-0.9076, p = 0.015 and 0.6156/0.4157-0.9117, p = 0.015) were associated with low risk of distant metastatic disease in PTC patients. rs33954691 in TERT was associated with the risk of RR-PTC under dominant model (OR/95% CI: 3.161/1.596-6.262). 30826992 2019
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.180 GeneticVariation disease BEFREE Letter regarding the article: "Multiple HABP2 variants in familial papillary thyroid carcinoma: Contribution of a group of "thyroid-checked" controls" by Kern et al. 28779995 2018
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.180 GeneticVariation disease 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
CUI: C0238463
Disease: Papillary thyroid carcinoma
Papillary thyroid carcinoma 		0.180 GeneticVariation disease BEFREE Multiple HABP2 variants in familial papillary thyroid carcinoma: Contribution of a group of "thyroid-checked" controls. 28089742 2017