DISEASES

Disease-gene associations mined from literature

Human genes for Bartter disease type 1

Bartter disease type 1 [DOID:0110142]

A Bartter disease that has_material_basis_in homozygous or compound heterozygous mutation in the sodium-potassium-chloride cotransporter-2 gene (SLC12A1) on chromosome 15q21.

Synonyms:  Bartter disease type 1,  DOID:0110142,  BARTS1,  Bartter syndrome type 1,  Bartter syndrome type 1 antenatal ...