rs7080536, HABP2;NRAP

N. diseases: 27
Disease: Familial Nonmedullary Thyroid Gland Carcinoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Familial Nonmedullary Thyroid Gland Carcinoma
CUI: C3896673
Disease: 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
Familial Nonmedullary Thyroid Gland Carcinoma
CUI: C3896673
Disease: 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 Gland Carcinoma
CUI: C3896673
Disease: 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
Familial Nonmedullary Thyroid Gland Carcinoma
CUI: C3896673
Disease: 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