Disease-gene associations mined from literature

Human genes for Fanconi renotubular syndrome 5

Fanconi renotubular syndrome 5 [DOID:0080761]

A Fanconi syndrome that is characterized by proximal renotubular dysfunction from birth, followed by progressive kidney disease and pulmonary fibrosis and that has_material_basis_in homozygous mutation in the NDUFAF6 gene on chromosome 8q22.

Synonyms:  Fanconi renotubular syndrome 5,  DOID:0080761,  Acadian-variant Fanconi syndrome,  Acadianvariant Fanconi syndrome,  Acadian-variant Fanconi disease ...