MCID: INT307
MIFTS: 7

Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Categories: Fetal diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

MalaCards integrated aliases for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation:

Name: Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation 60 6
Dyrk1a-Related Intellectual Disability Syndrome Due to a Point Mutation 60

Classifications:



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Summaries for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

MalaCards based summary : Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation, is also known as dyrk1a-related intellectual disability syndrome due to a point mutation. An important gene associated with Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation is DYRK1A (Dual Specificity Tyrosine Phosphorylation Regulated Kinase 1A).

Symptoms & Phenotypes for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Drugs & Therapeutics for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Search Clinical Trials , NIH Clinical Center for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Genetic Tests for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Anatomical Context for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Publications for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Variations for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

ClinVar genetic disease variations for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DYRK1A NM_001396.4(DYRK1A): c.1457G> A (p.Gly486Asp) single nucleotide variant Uncertain significance rs1555991030 GRCh37 Chromosome 21, 38877803: 38877803
2 DYRK1A NM_001396.4(DYRK1A): c.1457G> A (p.Gly486Asp) single nucleotide variant Uncertain significance rs1555991030 GRCh38 Chromosome 21, 37505500: 37505500

Expression for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Search GEO for disease gene expression data for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation.

Pathways for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

GO Terms for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Sources for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
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45 MeSH
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47 MGI
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63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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