MCID: INT307
MIFTS: 7

Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

Categories: Neuronal diseases, Fetal diseases, Rare diseases, Mental 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 59 6
Dyrk1a-Related Intellectual Disability Syndrome Due to a Point Mutation 59

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).

Related Diseases for Intellectual Disability Syndrome Due to a Dyrk1a Point Mutation

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 GRCh37 Chromosome 21, 38877803: 38877803
2 DYRK1A NM_001396.4(DYRK1A): c.1457G> A (p.Gly486Asp) single nucleotide variant Uncertain significance 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
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46 MGI
49 NCI
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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