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.199G>C(p.Gly67Arg) | Penetrance | Prevention of disease | Pedigree analysis | Improve the risk of melanomamore | more |
| CDKN2A:c.245_246delGCinsTT(p.Ala68Leu) | Expressivity | Risk factor | Pedigree analysis | Increased melanoma riskmore | more | |
| CDKN2A:c.249A>G(p.Gly83Gly) | Penetrance | Prevention of disease | Pedigree analysis | Improve the risk of melanomamore | more | |
| CDKN2A:c.301G>C(p.Gly101Arg) | Expressivity | Risk factor | Pedigree analysis | Increased melanoma riskmore | more | |
| CDKN2A:c.339G>C(p.Pro113Pro) | Penetrance | Prevention of disease | Pedigree analysis | Improve the risk of melanomamore | more | |
| CDKN2A:c.340C>A(p.Pro114Thr) | Penetrance | Prevention of disease | Pedigree analysis | Improve the risk of melanomamore | more | |
| CDKN2A:c.377T>A(p.Val126Asp) | Expressivity | Risk factor | Pedigree analysis | Increased melanoma riskmore | more | |
| CDKN2A:c.47_50del(p.Leu16fs) | Expressivity | Risk factor | Pedigree analysis | Increased melanoma riskmore | more | |
| CDKN2A:c.67G>T(p.Gly23Cys) | Expressivity | Risk factor | Pedigree analysis | Increased melanoma riskmore | more | |
| CDKN2A:c.71G>T(p.Arg24Leu) | Expressivity | Risk factor | Pedigree analysis | Increased melanoma riskmore | more |