AUTS15
MCID: ATS051
MIFTS: 14

Autism Susceptibility 15 (AUTS15) malady

Categories: Genetic diseases

Aliases & Classifications for Autism Susceptibility 15

Aliases & Descriptions for Autism Susceptibility 15:

Name: Autism Susceptibility 15 54 13
Autism 15 66 29
Auts15 66

Classifications:



External Ids:

OMIM 54 612100
MedGen 40 C2677504
MeSH 42 D001321

Summaries for Autism Susceptibility 15

OMIM : 54 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 : 66 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

Symptoms & Phenotypes for Autism Susceptibility 15

Clinical features from OMIM:

612100

Drugs & Therapeutics for Autism Susceptibility 15

Interventional clinical trials:


id Name Status NCT ID Phase
1 Study of the Involvement of 15q11 - q13 Chromosome Region and CYFIP1 Gene in Autism. Attempt a Genotype-phenotype Correlation Completed NCT02862340

Search NIH Clinical Center for Autism Susceptibility 15

Genetic Tests for Autism Susceptibility 15

Genetic tests related to Autism Susceptibility 15:

id Genetic test Affiliating Genes
1 Autism 15 29

Anatomical Context for Autism Susceptibility 15

Publications for Autism Susceptibility 15

Variations for Autism Susceptibility 15

ClinVar genetic disease variations for Autism Susceptibility 15:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CNTNAP2 NM_014141.5(CNTNAP2): c.2099-26267A> G single nucleotide variant risk factor rs2710102 GRCh37 Chromosome 7, 147574390: 147574390
2 CNTNAP2 NM_014141.5(CNTNAP2): c.208+18133A> T single nucleotide variant risk factor rs7794745 GRCh37 Chromosome 7, 146489606: 146489606
3 CNTNAP2 NM_014141.5(CNTNAP2): c.2606T> C (p.Ile869Thr) single nucleotide variant risk factor rs121908445 GRCh37 Chromosome 7, 147844634: 147844634

Expression for Autism Susceptibility 15

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

Pathways for Autism Susceptibility 15

GO Terms for Autism Susceptibility 15

Sources for Autism Susceptibility 15

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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