Disorder "Familial Adenomatous Polyposis"
Found 2 records
Disorder information
Disorder name:
Familial Adenomatous Polyposis
Disoder ID:
Synonyms:
enteroaggregative E.coli infection,adenomatous polyposis of the colon
Definition:
An autosomal dominant disease that is has material basis in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer.
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
2
Effect type:
Expressivity(1)
,Penetrance(1)
Modifier effect:
Altered incidence(1)
,Risk factor(1)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| ATP5F1A | ATP5F1A:c.-3678C>T | Expressivity | Risk factor | HR=13.79, 95% CI:2.36-80.64, P=0.004 | SNP rs2578189 were at increased risk of CRCmore | more |
| APC | APC:c.5945delA | Penetrance | Altered incidence | Pedigree analysis | APC germline mutation (5945delA) display marked phenotypic variability, in particular regarding the occurrence of extracolonic disease that segregates in several branches of the family tree.more | more |
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