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Browse result for Autosomal dominant pseudohypoaldosteronism
※ introduction A pseudohypoaldosteronism characterized by Salt wasting resulting from renal unresponsiveness to mineralocorticoids that has_material_basis_in heterozygous mutation in the NR3C2 gene on chromosome 4q31.
Reference
DiseaseOntology: Autosomal dominant pseudohypoaldosteronism
Reference
DiseaseOntology: Autosomal dominant pseudohypoaldosteronism
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD03865 | P08235 | 4306 | NR3C2 | Mineralocorticoid receptor | Homo sapiens |
| PTMD06599 | Q13618 | 8452 | CUL3 | Cullin-3 | Homo sapiens |
