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:
Gene:
Variant:
Reference:
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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