Lipoyltransferase deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Lipoyl transferase 1 deficiency | 401862 | LIPT1 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| LIPOYLTRANSFERASE 1 DEFICIENCY | C4225379 | LIPT1 | Causal Pathogenic evidence from ClinVar | 24256811, 24341803, 24777537, 29681092 | ClinVar |
| MITD1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 24341803 | - | ||
| Lipoyl transferase 2 deficiency | 447795 | LIPT2 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |