MCID: ANG058
MIFTS: 6

Angelman Syndrome Due to a Point Mutation

Categories: Neuronal diseases, Rare diseases, Genetic diseases, Fetal 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 56

Characteristics:

Orphanet epidemiological data:

56
angelman syndrome due to a point mutation
Inheritance: Not applicable; Age of onset: Infancy;

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

Orphanet 56 ORPHA411511
ICD10 via Orphanet 34 Q93.5

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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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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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