Nephropathy with pretibial epidermolysis bullosa and deafness
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Nephropathy with Pretibial Epidermolysis Bullosa and Deafness | C1836823 | CD151 | 29138120, 15265795 |
| NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8 | C4693587 | CRAT | 29395073 |
| NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2 (disorder) | C1857747 | PLA2G6 | 16783378, 30772976, 18799783, 29903433, 18570303 |
| Neurodegeneration with brain iron accumulation (NBIA) | C2931845 | WDR45 | 23435086 |
| PANK2 | 20629144 | ||
| NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7 | C4693583 | REPS1 | 29395073 |