MCID: THC007
MIFTS: 9

Thoc6 Intellectual Disability Syndrome

Aliases & Classifications for Thoc6 Intellectual Disability Syndrome

MalaCards integrated aliases for Thoc6 Intellectual Disability Syndrome:

Name: Thoc6 Intellectual Disability Syndrome 25
Beaulieu-Boycott-Innes Syndrome 25

Summaries for Thoc6 Intellectual Disability Syndrome

MalaCards based summary : Thoc6 Intellectual Disability Syndrome, also known as beaulieu-boycott-innes syndrome, is related to beaulieu-boycott-innes syndrome and cleft palate, isolated. An important gene associated with Thoc6 Intellectual Disability Syndrome is THOC6 (THO Complex 6).

GeneReviews: NBK560442

Related Diseases for Thoc6 Intellectual Disability Syndrome

Graphical network of the top 20 diseases related to Thoc6 Intellectual Disability Syndrome:



Diseases related to Thoc6 Intellectual Disability Syndrome

Symptoms & Phenotypes for Thoc6 Intellectual Disability Syndrome

Drugs & Therapeutics for Thoc6 Intellectual Disability Syndrome

Search Clinical Trials , NIH Clinical Center for Thoc6 Intellectual Disability Syndrome

Genetic Tests for Thoc6 Intellectual Disability Syndrome

Anatomical Context for Thoc6 Intellectual Disability Syndrome

Publications for Thoc6 Intellectual Disability Syndrome

Articles related to Thoc6 Intellectual Disability Syndrome:

(showing 19, show less)
# Title Authors PMID Year
1
The first reported case of Beaulieu-Boycott-Innes syndrome caused by two novel mutations in THOC6 gene in a Chinese infant. 61 25
32282736 2020
2
First report of THOC6 related intellectual disability (Beaulieu Boycott Innes syndrome) in two siblings from India. 61 25
31421288 2020
3
Clinical and functional characterization of recurrent missense variants implicated in THOC6-related intellectual disability. 61 25
30476144 2019
4
Novel CNS malformations and skeletal anomalies in a patient with Beaulieu-boycott-Innes syndrome. 61 25
30238602 2018
5
Beaulieu-Boycott-Innes syndrome: an intellectual disability syndrome with characteristic facies. 25 61
27295358 2016
6
Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing. 25
31231135 2019
7
Comparison of clinical parameters with whole exome sequencing analysis results of autosomal recessive patients; a center experience. 25
30426380 2019
8
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases. 25
30293248 2018
9
The THO Complex Coordinates Transcripts for Synapse Development and Dopamine Neuron Survival. 25
30146163 2018
10
Parental influence on human germline de novo mutations in 1,548 trios from Iceland. 25
28959963 2017
11
Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping. 25
27102954 2017
12
Confirming the candidacy of THOC6 in the etiology of intellectual disability. 25
26739162 2016
13
The THO complex regulates pluripotency gene mRNA export and controls embryonic stem cell self-renewal and somatic cell reprogramming. 25
24315442 2013
14
Intellectual disability associated with a homozygous missense mutation in THOC6. 25
23621916 2013
15
Identification of mRNAs that are spliced but not exported to the cytoplasm in the absence of THOC5 in mouse embryo fibroblasts. 25
21525145 2011
16
A novel autosomal recessive malformation syndrome associated with developmental delay and distinctive facies maps to 16ptel in the Hutterite population. 25
20503307 2010
17
Recruitment of the human TREX complex to mRNA during splicing. 25
15998806 2005
18
THOC6 Intellectual Disability Syndrome 61
32790266 2020
19
Proteinuria in Two Sisters with Beaulieu-Boycott-Innes Syndrome, A Case Report. 61
32655027 2020

Variations for Thoc6 Intellectual Disability Syndrome

Expression for Thoc6 Intellectual Disability Syndrome

Search GEO for disease gene expression data for Thoc6 Intellectual Disability Syndrome.

Pathways for Thoc6 Intellectual Disability Syndrome

GO Terms for Thoc6 Intellectual Disability Syndrome

Sources for Thoc6 Intellectual Disability Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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