MCID: ANG052
MIFTS: 8

Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15

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

Aliases & Classifications for Angelman Syndrome Due to Paternal Uniparental Disomy of...

MalaCards integrated aliases for Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15:

Name: Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 60
Upd(15)pat 60

Classifications:



External Ids:

ICD10 via Orphanet 35 Q93.5
Orphanet 60 ORPHA98795

Summaries for Angelman Syndrome Due to Paternal Uniparental Disomy of...

MalaCards based summary : Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15, also known as upd(15)pat, is related to angelman syndrome. An important gene associated with Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 is UBE3A (Ubiquitin Protein Ligase E3A).

Related Diseases for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Diseases in the Angelman Syndrome family:

Angelman Syndrome Due to a Point Mutation Angelman Syndrome Due to Imprinting Defect in 15q11-Q13
Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 Angelman Syndrome Due to Maternal 15q11q13 Deletion

Diseases related to Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 angelman syndrome 10.4

Symptoms & Phenotypes for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Drugs & Therapeutics for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Search Clinical Trials , NIH Clinical Center for Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15

Genetic Tests for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Anatomical Context for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Publications for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Articles related to Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15:

# Title Authors Year
1
Angelman syndrome due to paternal uniparental disomy of chromosome 15: a milder phenotype? ( 8030667 )
1994

Variations for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Expression for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Search GEO for disease gene expression data for Angelman Syndrome Due to Paternal Uniparental Disomy of Chromosome 15.

Pathways for Angelman Syndrome Due to Paternal Uniparental Disomy of...

GO Terms for Angelman Syndrome Due to Paternal Uniparental Disomy of...

Sources for Angelman Syndrome Due to Paternal Uniparental Disomy of...

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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