MRD27
MCID: ATS422
MIFTS: 13

Autosomal Dominant Non-Syndromic Intellectual Disability 27 (MRD27)

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Non-Syndromic Intellectual Disability 27

MalaCards integrated aliases for Autosomal Dominant Non-Syndromic Intellectual Disability 27:

Name: Autosomal Dominant Non-Syndromic Intellectual Disability 27 12 15
Autosomal Dominant Mental Retardation 27 12
Mrd27 12

Classifications:



External Ids:

Disease Ontology 12 DOID:0070057

Summaries for Autosomal Dominant Non-Syndromic Intellectual Disability 27

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of SOX11 on chromosome 2p25.2.

MalaCards based summary : Autosomal Dominant Non-Syndromic Intellectual Disability 27, also known as autosomal dominant mental retardation 27, is related to coffin-siris syndrome 9 and mental retardation, autosomal dominant 30. An important gene associated with Autosomal Dominant Non-Syndromic Intellectual Disability 27 is LARP7 (La Ribonucleoprotein 7, Transcriptional Regulator). Related phenotypes are Increased Nanog expression and Increased Nanog expression

Related Diseases for Autosomal Dominant Non-Syndromic Intellectual Disability 27

Graphical network of the top 20 diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 27:



Diseases related to Autosomal Dominant Non-Syndromic Intellectual Disability 27

Symptoms & Phenotypes for Autosomal Dominant Non-Syndromic Intellectual Disability 27

GenomeRNAi Phenotypes related to Autosomal Dominant Non-Syndromic Intellectual Disability 27 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased Nanog expression GR00371-A-1 9.1 CIC
2 Increased Nanog expression GR00371-A-2 9.1 CIC SOX11
3 Increased Nanog expression GR00371-A-3 9.1 CIC
4 Increased Nanog expression GR00371-A-4 9.1 SOX11
5 Increased Nanog expression GR00371-A-5 9.1 CIC

Drugs & Therapeutics for Autosomal Dominant Non-Syndromic Intellectual Disability 27

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Non-Syndromic Intellectual Disability 27

Genetic Tests for Autosomal Dominant Non-Syndromic Intellectual Disability 27

Anatomical Context for Autosomal Dominant Non-Syndromic Intellectual Disability 27

Publications for Autosomal Dominant Non-Syndromic Intellectual Disability 27

Variations for Autosomal Dominant Non-Syndromic Intellectual Disability 27

Expression for Autosomal Dominant Non-Syndromic Intellectual Disability 27

Search GEO for disease gene expression data for Autosomal Dominant Non-Syndromic Intellectual Disability 27.

Pathways for Autosomal Dominant Non-Syndromic Intellectual Disability 27

GO Terms for Autosomal Dominant Non-Syndromic Intellectual Disability 27

Cellular components related to Autosomal Dominant Non-Syndromic Intellectual Disability 27 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.02 SOX11 SHOX LARP7 CIC ANKRD11

Biological processes related to Autosomal Dominant Non-Syndromic Intellectual Disability 27 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 skeletal system development GO:0001501 8.62 SOX11 SHOX

Sources for Autosomal Dominant Non-Syndromic Intellectual Disability 27

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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