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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



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD03865P082354306
NR3C2
Mineralocorticoid receptor
Homo sapiens
PTMD06599Q136188452
CUL3
Cullin-3
Homo sapiens