MCID: ATS051
MIFTS: 13

Autism Susceptibility 15 malady

Category: Genetic diseases (common)

Aliases & Classifications for Autism Susceptibility 15

About this section

Aliases & Descriptions for Autism Susceptibility 15:

Name: Autism Susceptibility 15 52 12
Autism 15 70 27
 
Auts15 70

Classifications:



External Ids:

OMIM52 612100
MedGen37 C2677504
MeSH39 D001321

Summaries for Autism Susceptibility 15

About this section
OMIM:52 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:70 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

About this section

Symptoms & Phenotypes for Autism Susceptibility 15

About this section


Clinical features from OMIM:

612100

Drugs & Therapeutics for Autism Susceptibility 15

About this section

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

About this section

Genetic tests related to Autism Susceptibility 15:

id Genetic test Affiliating Genes
1 Autism 1527

Anatomical Context for Autism Susceptibility 15

About this section

Publications for Autism Susceptibility 15

About this section

Variations for Autism Susceptibility 15

About this section

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

About this section
Search GEO for disease gene expression data for Autism Susceptibility 15.

Pathways for genes affiliated with Autism Susceptibility 15

About this section

GO Terms for genes affiliated with Autism Susceptibility 15

About this section

Sources for Autism Susceptibility 15

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet