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:
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 |
---|---|---|---|---|---|---|
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 |
Total 2,Each Page
,Jump To
Page