Disorder "Dent disease"
Found 2 records
Disorder information
Disorder name:
Dent disease 
Disoder ID:
OMIM entry:
Synonyms:
Dent's disease, Dent disease 1, Dent disease 2 
Definition:
A renal tubular transport disease that is characterized by tubular proteinuria, hypercalciuria, calcium nephrolithiasis, nephrocalcinosis and chronic kidney failure and has_material_basis_in x-linked recessive inheritance of mutations in the clcn5 gene or ocrl1 gene. 
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
SCNN1B SCNN1B:rs781393829 Expressivity  Risk factor  Assessment of genotype–phenotype associations  Modify the phenotypemore more
SCNN1A SCNN1A:rs59142484 Expressivity  Risk factor  Assessment of genotype–phenotype associations  Modify the phenotypemore more
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