SECISBP2, SECIS binding protein 2, 79048

N. diseases: 17; N. variants: 3
Disease: Thyroid Hormone Metabolism, Abnormal ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		0.730 GeneticVariation disease BEFREE SECISBP2 is an essential factor in selenoprotein synthesis, and its mutations result in a multiorgan syndrome, including abnormal thyroid hormone metabolism. 29882503 2018
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		0.730 Biomarker disease BEFREE Individuals with inherited defects in selenocysteine insertion sequence (SECIS)-binding protein 2 display a syndrome of selenoprotein-related defects including abnormal thyroid hormone metabolism, delayed bone maturation, and other more individual phenotypes. 21670677 2011
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		0.730 Biomarker disease GENOMICS_ENGLAND Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. 21084748 2010
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		0.730 GermlineCausalMutation disease ORPHANET Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X). 19602558 2009
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		0.730 Biomarker disease GENOMICS_ENGLAND Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. 16228000 2005
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		0.730 GeneticVariation disease UNIPROT Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. 16228000 2005
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		0.730 Biomarker disease GENOMICS_ENGLAND Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. 16228000 2005
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		0.730 GermlineCausalMutation disease ORPHANET Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. 16228000 2005
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		0.730 GeneticVariation disease BEFREE Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. 16228000 2005
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		0.730 Biomarker disease CTD_human
CUI: C1864761
Disease: Thyroid Hormone Metabolism, Abnormal
Thyroid Hormone Metabolism, Abnormal 		0.730 CausalMutation disease CLINVAR