SECISBP2, SECIS binding protein 2, 79048

N. diseases: 17; N. variants: 3
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002514
Disease: Amino Acid Metabolism, Inborn Errors
Amino Acid Metabolism, Inborn Errors 		0.300 Biomarker group CTD_human Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. 16228000 2005
CUI: C0750905
Disease: Amino Acid Metabolism, Inherited Disorders
Amino Acid Metabolism, Inherited Disorders 		0.300 Biomarker disease CTD_human Mutations in SECISBP2 result in abnormal thyroid hormone metabolism. 16228000 2005
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.010 Biomarker disease BEFREE This study analysed 12 single-nucleotide polymorphisms (SNPs) in selenoprotein genes [glutathione peroxidase 1 (GPX1), GPX4, 15 kDa selenoprotein (SEP15), selenoprotein S (SELS), selenoprotein P (SEPP1) and thioredoxin reductase 2 (TXNRD2)] and in genes that code for a key protein in Se incorporation [SECIS-binding protein 2 (SBP2)] and in antioxidant defence [superoxide dismutase 2 (SOD2)] in relation to sporadic CRC incidence. 20378690 2010
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis 		0.010 AlteredExpression disease BEFREE There was lower GPX1 and GPX4 mRNA expression and SBP2 protein expression in damaged cartilage than in smooth cartilage from the same OA sample, and hsa-miR-181a-5p expression on the contrary. 30286747 2018
CUI: C0541764
Disease: Delayed bone age
Delayed bone age 		0.100 Biomarker phenotype HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.100 Biomarker disease HPO
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver 		0.010 AlteredExpression disease BEFREE The only novel protein with regard to liver fibrosis depicting a unidirectional expression pattern in both animal models was Sbp2. 17109383 2006
CUI: C0018273
Disease: Growth Disorders
Growth Disorders 		0.300 Biomarker group CTD_human Clinical and molecular characterization of a novel selenocysteine insertion sequence-binding protein 2 (SBP2) gene mutation (R128X). 19602558 2009
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.020 GeneticVariation disease BEFREE Mutations in the selenocysteine insertion sequence-binding protein 2 gene lead to a multisystem selenoprotein deficiency disorder in humans. 21084748 2010
CUI: C0162429
Disease: Malnutrition
Malnutrition 		0.020 Biomarker disease BEFREE Partial SBP2 deficiency syndrome manifests characteristic thyroid function tests. 31826256 2019
CUI: C0026848
Disease: Myopathy
Myopathy 		0.020 GeneticVariation group BEFREE Mutations in SBP2 impinge on biosynthesis of a subset of selenoproteins and lead to a syndrome including hormonal, neurological, immunological symptoms as well as myopathy. 22708491 2012
CUI: C0026848
Disease: Myopathy
Myopathy 		0.020 GeneticVariation group BEFREE Pathologically, reduced expression of selenoproteins has been directly linked with the congenital muscle disease referred to as selenoprotein N (SEPN)-related myopathy and with thyroid-hormone metabolism defects (deficiency of deiodinases due to genetic defects in SBP2). 19905883 2010
CUI: C1535926
Disease: Neurodevelopmental Disorders
Neurodevelopmental Disorders 		0.010 Biomarker group BEFREE Pathogenic mutations in selenocysteine synthase (SEPSECS) cause neurodevelopmental disorders, but also other factors epistatic to selenoprotein biosynthesis, such as SECIS-binding protein 2 (SECISBP2) and tRNA<sup>[Ser]Sec</sup>, are known to cause complex disorders. 27473727 2016
CUI: C0586553
Disease: Raised TSH level
Raised TSH level 		0.100 Biomarker phenotype HPO
CUI: C0238421
Disease: Selenium deficiency
Selenium deficiency 		0.010 Biomarker disease BEFREE Their inferred Sec incorporation efficiencies did not correlate well with their SECIS-SBP2 binding affinities, suggesting the existence of additional factors determining the hierarchy of selenoprotein synthesis under selenium deficiency. 28178267 2017
CUI: C0349588
Disease: Short stature
Short stature 		0.100 Biomarker phenotype HPO
CUI: C2919142
Disease: Short Stature, CTCAE
Short Stature, CTCAE 		0.100 Biomarker phenotype HPO
CUI: C0040128
Disease: Thyroid Diseases
Thyroid Diseases 		0.010 GeneticVariation group BEFREE In 2005, we reported the first mutations in the SBP2 gene in two families in which the probands presented with transient growth retardation associated with abnormal thyroid function tests. 19769464 2010
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 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 CausalMutation disease CLINVAR
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 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