Disorder "Melanoma"
Found 34 records
Disorder information
Disorder name:
Melanoma
Disoder ID:
Definition:
The presence of a melanoma, a malignant cancer originating from pigment producing melanocytes. Melanoma can originate from the skin or the pigmented layers of the eye (the uvea).
Modifier statisitcs
Record:
34
Gene:
3
Variant:
34
Reference:
3
Effect type:
Penetrance(20)
,Expressivity(14)
Modifier effect:
Altered incidence(14)
,Risk factor(14)
,Prevention of disease(6)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| CDKN2A | CDKN2A:c.del67-71 | Expressivity | Risk factor | Pedigree analysis | Increased melanoma riskmore | more |
| CDKN2A:FS102-119X | Expressivity | Risk factor | Pedigree analysis | Increased melanoma riskmore | more | |
| CDKN2A:p.Asn731Lys | Expressivity | Risk factor | Pedigree analysis | Increased melanoma riskmore | more | |
| CDKN2A:p.Leu62Pro | Expressivity | Risk factor | Pedigree analysis | Increased melanoma riskmore | more |