THOC2, THO complex 2, 57187

N. diseases: 59; N. variants: 9
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.700 GeneticVariation disease UNIPROT THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. 26166480 2015
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.700 Biomarker disease GENOMICS_ENGLAND THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. 26166480 2015
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.700 GermlineCausalMutation disease ORPHANET THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. 26166480 2015
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.700 Biomarker disease GENOMICS_ENGLAND A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. 19377476 2009
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.700 Biomarker disease CTD_human
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.700 GeneticVariation disease CLINVAR
CUI: C0796218
Disease: MENTAL RETARDATION, X-LINKED 12
MENTAL RETARDATION, X-LINKED 12 		0.700 CausalMutation disease CLINVAR
CUI: C0796242
Disease: MENTAL RETARDATION, X-LINKED 35
MENTAL RETARDATION, X-LINKED 35 		0.300 GermlineCausalMutation disease ORPHANET THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. 26166480 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 GeneticVariation group BEFREE Previously we implicated four missense variants in the X-linked THOC2 gene in intellectual disability (ID). 29851191 2018
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 GeneticVariation group BEFREE Here, we report that variants in THOC2, which encodes a subunit of the highly conserved TREX mRNA-export complex, cause syndromic intellectual disability (ID). 26166480 2015
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 GeneticVariation group BEFREE A novel human gene, TRPC5, was cloned from the region of Xq23 that contains loci for nonsyndromic mental retardation (MRX47 and MRX35) and two genes, DCX and HPAK3, implicated in two X-linked disorders (LISX and MRX30). 10493832 1999
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 GeneticVariation group BEFREE Therefore, the gene causing MR in this family can be considered to be a new, independent MRX locus (MRX35). 8825049 1996
CUI: C3714756
Disease: Intellectual Disability
Intellectual Disability 		0.140 Biomarker group HPO
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease BEFREE In MRX12, prematurity or low birth weight, hypotelorism and short stature were seen in several affected males. 1605217 1992
CUI: C0013336
Disease: Dwarfism
Dwarfism 		0.110 Biomarker disease HPO
CUI: C0003467
Disease: Anxiety
Anxiety 		0.100 Biomarker disease HPO
CUI: C0011581
Disease: Depressive disorder
Depressive disorder 		0.100 Biomarker disease HPO
CUI: C0017639
Disease: Gliosis
Gliosis 		0.100 Biomarker phenotype HPO
CUI: C0020534
Disease: Orbital separation excessive
Orbital separation excessive 		0.100 Biomarker phenotype HPO
CUI: C0025958
Disease: Microcephaly
Microcephaly 		0.100 Biomarker disease HPO
CUI: C0026106
Disease: Mild Mental Retardation
Mild Mental Retardation 		0.100 Biomarker disease HPO
CUI: C0026351
Disease: Moderate intellectual disability
Moderate intellectual disability 		0.100 Biomarker disease HPO
CUI: C0026827
Disease: Muscle hypotonia
Muscle hypotonia 		0.100 Biomarker phenotype HPO
CUI: C0027051
Disease: Myocardial Infarction
Myocardial Infarction 		0.100 Biomarker disease HPO
CUI: C0028738
Disease: Nystagmus
Nystagmus 		0.100 Biomarker disease HPO