Disorder "Renal Cell Carcinoma"
Found 2 records
Disorder information
Disorder name:
Renal Cell Carcinoma
Disoder ID:
OMIM entry:
Synonyms:
RCC,adenocarcinoma of kidney,hypernephroma
Definition:
A type of carcinoma of the kidney with origin in the epithelium of the proximal convoluted renal tubule.
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
1
Effect type:
Expressivity(2)
Modifier effect:
Risk factor(2)
| Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
|---|---|---|---|---|---|---|
| MMP3 | MMP3:c.133A>G(p.Lys45Glu) | Expressivity | Risk factor | OR=1.45, 95% CI: 1.01-2.10 | Variants of MMP1 and MMP3 were significant modifiers of RCC risk (and risks of retinal angioma and cerebellar haemangioblastoma) in VHL disease patients.more | more |
| MMP1 | MMP1:c.-1673del | Expressivity | Risk factor | P=0.017, OR=1.49, 95% CI: 1.06-2.08 | Variants of MMP1 and MMP3 were significant modifiers of RCC risk (and risks of retinal angioma and cerebellar haemangioblastoma) in VHL disease patients.more | more |
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