MCID: ANG058
MIFTS: 6

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 60

Characteristics:

Orphanet epidemiological data:

60
angelman syndrome due to a point mutation
Inheritance: Not applicable; Age of onset: Infancy;

Classifications:

Orphanet: 60  
Rare neurological diseases


External Ids:

ICD10 via Orphanet 35 Q93.5
Orphanet 60 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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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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
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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