MCID: ANG058
MIFTS: 5

Angelman Syndrome Due to a Point Mutation

Categories: Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Angelman Syndrome Due to a Point Mutation

MalaCards integrated aliases for Angelman Syndrome Due to a Point Mutation:

Name: Angelman Syndrome Due to a Point Mutation 58

Characteristics:

Orphanet epidemiological data:

58
angelman syndrome due to a point mutation
Inheritance: Not applicable; Age of onset: Infancy;

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 33 Q93.5
Orphanet 58 ORPHA411511

Summaries for Angelman Syndrome Due to a Point Mutation

MalaCards based summary : Angelman Syndrome Due to a Point Mutation An important gene associated with Angelman Syndrome Due to a Point Mutation is UBE3A (Ubiquitin Protein Ligase E3A).

Related Diseases for Angelman Syndrome Due to a Point Mutation

Symptoms & Phenotypes for Angelman Syndrome Due to a Point Mutation

Drugs & Therapeutics for Angelman Syndrome Due to a Point Mutation

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Genetic Tests for Angelman Syndrome Due to a Point Mutation

Anatomical Context for Angelman Syndrome Due to a Point Mutation

Publications for Angelman Syndrome Due to a Point Mutation

Variations for Angelman Syndrome Due to a Point Mutation

Expression for Angelman Syndrome Due to a Point Mutation

Search GEO for disease gene expression data for Angelman Syndrome Due to a Point Mutation.

Pathways for Angelman Syndrome Due to a Point Mutation

GO Terms for Angelman Syndrome Due to a Point Mutation

Sources for Angelman Syndrome Due to a Point Mutation

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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