Disorder "Chronic Kidney Disease"
Found 2 records
Disorder information
Disorder name:
Chronic Kidney Disease 
Disoder ID:
Synonyms:
CKD,CRF,chronic kidney failure,chronic renal disease,chronic renal failure syndrome,renal failure - chronic 
Definition:
Functional anomaly of the kidney persisting for at least three months. 
Modifier statisitcs
Record:
Gene:
Variant:
Reference:
Effect type:
Expressivity(2)  
Modifier effect:
Altered risk of CKD(1) ,Altered severity(1)  
Modifier gene Variant Effect type Modifier effect Evidence Effect PubMed ID
REN REN:c.493-131A>C Expressivity  Altered risk of CKD  OR=4.80; 95 % CI:1.30-17.82; P=0.019  The rs1464816 polymorphism in REN is associated with CKD progression in ADPKD.more more
ACE ACE:c.1665T>C(p.Phe555Phe) Expressivity  Altered severity  Assessment of genotype–phenotype associations  ACE rs4362 contributed to the advancement of CKD.more more
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