Disorder "Tuberous sclerosis complex"
Found 1 record
Disorder information
Disorder name:
Tuberous sclerosis complex
Disoder ID:
OMIM entry:
Synonyms:
Tuberous sclerosis, Bourneville syndrome
Definition:
Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Altered expression of TSC(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| IFNG | IFNG:rs34079299 | Expressivity | Altered expression of TSC | P=0.02, by chi(2) analysis | The modifier gene plays a role in the variable expression of TSCmore | more |
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