Disorder "Medullary thyroid carcinoma"
Found 1 record
Disorder information
Disorder name:
Medullary thyroid carcinoma
Disoder ID:
Synonyms:
familial medullary thyroid carcinoma,thyroid medullary carcinoma
Definition:
The presence of a medullary carcinoma of the thyroid gland.
Modifier statisitcs
Record:
1
Gene:
1
Variant:
1
Reference:
1
Effect type:
Expressivity(1)
Modifier effect:
Risk factor(1)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
RET | RET:c.2071G>C(p.Gly691Arg) | Expressivity | Risk factor | Gene activity study | The RET-G691S non-synonymous polymorphism enhances in vitro the oncogenic activity of RET-S891Amore | more |
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