Disorder "Autism spectrum disorder"
Found 1 record
Disorder information
Disorder name:
Autism spectrum disorder
Disoder ID:
Definition:
A pervasive developmental disorder that is a spectrum of psychological conditions. the disease has_symptom widespread abnormalities of social interactions and communication, has_symptom severely restricted interests and has_symptom highly repetitive behavior.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered severity(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| CNTNAP2 | CNTNAP2:c.824A-G(p.H275R) | Expressivity | Altered severity | Pedigree analysis | The polymorphism is associated with the disease severity.more | more |
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