| Disease ID | Source | Name | Description |
| 203780 | OMIM | Alport syndrome 2, autosomal recessive (ATS2) | A syndrome characterized by progressive glomerulonephritis, glomerular basement membrane defects, renal failure, sensorineural deafness and specific eye abnormalities (lenticonous and macular flecks). The disorder shows considerable heterogeneity in that families differ in the age of end-stage renal disease and the occurrence of deafness. The disease is caused by variants affecting the gene represented in this entry. |
| 141200 | OMIM | Hematuria, benign familial (BFH) | An autosomal dominant condition characterized by non-progressive isolated microscopic hematuria that does not result in renal failure. It is characterized pathologically by thinning of the glomerular basement membrane. The disease is caused by variants affecting the gene represented in this entry. |