DISEASES

Disease-gene associations mined from literature

Human genes for nephronophthisis 1

Nephronophthisis 1 [DOID:0111112]

A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13.

Synonyms:  nephronophthisis 1,  DOID:0111112,  NPH1,  juvenile nephronophthisis 1