| Disease ID | Source | Name | Description |
| 236800 | OMIM | Hydroxykynureninuria (HYXKY) | An inborn error of amino acid metabolism characterized by massive urinary excretion of large amounts of kynurenine, 3-hydroxykynurenine and xanthurenic acid. Affected individuals manifest renal tubular dysfunction, metabolic acidosis, psychomotor retardation, non-progressive encephalopathy, and muscular hypertonia. The disease is caused by variants affecting the gene represented in this entry. |
| 617661 | OMIM | Vertebral, cardiac, renal, and limb defects syndrome 2 (VCRL2) | An autosomal recessive congenital malformation syndrome characterized by vertebral segmentation abnormalities, congenital cardiac defects, renal defects, and distal mild limb defects. The disease is caused by variants affecting the gene represented in this entry. |