MCID: ATS350
MIFTS: 9

Autism Spectrum Disorder Susceptibility, Chd8-Related

Categories: Genetic diseases

Aliases & Classifications for Autism Spectrum Disorder Susceptibility, Chd8-Related

MalaCards integrated aliases for Autism Spectrum Disorder Susceptibility, Chd8-Related:

Name: Autism Spectrum Disorder Susceptibility, Chd8-Related 24
Autism, Susceptibility to, 18 24 29 13
Auts18 24

Classifications:



Summaries for Autism Spectrum Disorder Susceptibility, Chd8-Related

MalaCards based summary : Autism Spectrum Disorder Susceptibility, Chd8-Related, also known as autism, susceptibility to, 18, is related to autism 18. An important gene associated with Autism Spectrum Disorder Susceptibility, Chd8-Related is CHD8 (Chromodomain Helicase DNA Binding Protein 8).

Related Diseases for Autism Spectrum Disorder Susceptibility, Chd8-Related

Diseases in the Autism Susceptibility 15 family:

Autism Susceptibility 16 Autism Susceptibility 17
Autism Spectrum Disorder Susceptibility, Chd8-Related Autism Spectrum Disorder Susceptibility, Kmt5b-Related

Diseases related to Autism Spectrum Disorder Susceptibility, Chd8-Related via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 autism 18 10.8

Symptoms & Phenotypes for Autism Spectrum Disorder Susceptibility, Chd8-Related

Drugs & Therapeutics for Autism Spectrum Disorder Susceptibility, Chd8-Related

Search Clinical Trials , NIH Clinical Center for Autism Spectrum Disorder Susceptibility, Chd8-Related

Genetic Tests for Autism Spectrum Disorder Susceptibility, Chd8-Related

Genetic tests related to Autism Spectrum Disorder Susceptibility, Chd8-Related:

id Genetic test Affiliating Genes
1 Autism, Susceptibility to, 18 29
2 Autism Spectrum Disorder Susceptibility, Chd8-Related 24 CHD8

Anatomical Context for Autism Spectrum Disorder Susceptibility, Chd8-Related

Publications for Autism Spectrum Disorder Susceptibility, Chd8-Related

Variations for Autism Spectrum Disorder Susceptibility, Chd8-Related

ClinVar genetic disease variations for Autism Spectrum Disorder Susceptibility, Chd8-Related:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 CHD8 NM_020920.3(CHD8): c.4429dupT (p.Tyr1477Leufs) duplication Pathogenic rs886043086 GRCh37 Chromosome 14, 21863195: 21863195
2 CHD8 NM_001170629.1(CHD8): c.6518C> A (p.Ser2173Ter) single nucleotide variant Pathogenic rs781575717 GRCh38 Chromosome 14, 21392760: 21392760
3 CHD8 NM_001170629.1(CHD8): c.6103C> T (p.Arg2035Ter) single nucleotide variant Pathogenic/Likely pathogenic rs1131691627 GRCh37 Chromosome 14, 21861851: 21861851
4 CHD8 NM_001170629.1(CHD8): c.347delC (p.Thr116Asnfs) deletion Pathogenic rs1135401763 GRCh38 Chromosome 14, 21431297: 21431297
5 CHD8 NM_020920.3(CHD8): c.2887C> T (p.Arg963Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 14, 21402494: 21402494

Expression for Autism Spectrum Disorder Susceptibility, Chd8-Related

Search GEO for disease gene expression data for Autism Spectrum Disorder Susceptibility, Chd8-Related.

Pathways for Autism Spectrum Disorder Susceptibility, Chd8-Related

GO Terms for Autism Spectrum Disorder Susceptibility, Chd8-Related

Sources for Autism Spectrum Disorder Susceptibility, Chd8-Related

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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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