MCID: ATS051
MIFTS: 13

Autism Susceptibility 15 malady

Category: Genetic diseases (common)

Aliases & Classifications for Autism Susceptibility 15

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Aliases & Descriptions for Autism Susceptibility 15:

Name: Autism Susceptibility 15 51 12
Autism 15 69 26
 
Auts15 69

Classifications:



External Ids:

OMIM51 612100
MedGen36 C2677504
MeSH38 D001321

Summaries for Autism Susceptibility 15

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OMIM:51 Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is... (612100) more...

MalaCards based summary: Autism Susceptibility 15, is also known as autism 15 An important gene associated with Autism Susceptibility 15 is CNTNAP2 (Contactin Associated Protein-Like 2).

UniProtKB/Swiss-Prot:69 Autism 15: A complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation.

Related Diseases for Autism Susceptibility 15

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Symptoms for Autism Susceptibility 15

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Clinical features from OMIM:

612100

Drugs & Therapeutics for Autism Susceptibility 15

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of the Involvement of 15q11 - q13 Chromosome Region and CYFIP1 Gene in Autism. Attempt a Genotype-phenotype CorrelationCompletedNCT02862340

Search NIH Clinical Center for Autism Susceptibility 15

Genetic Tests for Autism Susceptibility 15

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Genetic tests related to Autism Susceptibility 15:

id Genetic test Affiliating Genes
1 Autism 1526

Anatomical Context for Autism Susceptibility 15

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Animal Models for Autism Susceptibility 15 or affiliated genes

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Publications for Autism Susceptibility 15

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Variations for Autism Susceptibility 15

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Clinvar genetic disease variations for Autism Susceptibility 15:

5
id Gene Variation Type Significance SNP ID Assembly Location
1CNTNAP2NM_014141.5(CNTNAP2): c.2099-26267A> GSNVrisk factorrs2710102GRCh37Chr 7, 147574390: 147574390
2CNTNAP2NM_014141.5(CNTNAP2): c.208+18133A> TSNVrisk factorrs7794745GRCh37Chr 7, 146489606: 146489606

Expression for genes affiliated with Autism Susceptibility 15

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Search GEO for disease gene expression data for Autism Susceptibility 15.

Pathways for genes affiliated with Autism Susceptibility 15

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GO Terms for genes affiliated with Autism Susceptibility 15

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Sources for Autism Susceptibility 15

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet