Disorder "Nephropathy"
Found 2 records
Disorder information
Disorder name:
Nephropathy
Disoder ID:
Definition:
A nonspecific term referring to disease or damage of the kidneys.
Modifier statisitcs
Record:
2
Gene:
2
Variant:
2
Reference:
2
Effect type:
Expressivity(2)
Modifier effect:
Altered severity(1)
,Risk factor(1)
Modifier gene | Variant | Effect type | Modifier effect | Evidence | Effect | PubMed ID |
---|---|---|---|---|---|---|
NOS3 | NOS3:c.894T>G(p.Asp298Glu) | Expressivity | Risk factor | HR=1.843, 95% CI: 1.088 - 3.119, P=0.023 | 894GT genotype is a risk factor for DN progression and 894TT genotype is a risk factor for major cardiovascular eventmore | more |
HBEGF | HBEGF:rs13385 | Expressivity | Altered severity | P=0.035 | The polymorphism is associated with disease severity in CFHR5 nephropathy.more | more |
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