DIO2, iodothyronine deiodinase 2, 1734

N. diseases: 79; N. variants: 10
Disease: Intellectual Disability ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 Biomarker group BEFREE The SECIS element of DIO2 was sequenced in 387 patients with unexplained intellectual disability using a predefined pattern of thyroid function tests. 30423129 2019
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 GeneticVariation group BEFREE The DIO2 gene was genotyped by using five haplotype-tagging single-nucleotide polymorphisms (SNPs) in 157 Chinese MR high-density family pedigrees, including 452 nuclear families and >1460 persons. 22048657 2012
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 GeneticVariation group BEFREE We conclude that allelic variation in the DIO2 gene may affect the amount of T3 available and in an iodine-deficient environment may partly determine overall risk of MR. 15286152 2004
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.030 GeneticVariation group LHGDN We conclude that allelic variation in the DIO2 gene may affect the amount of T3 available and in an iodine-deficient environment may partly determine overall risk of MR. 15286152 2004