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:
Gene:
Variant:
Reference:
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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