Mitochondrial dna depletion syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| MITOCHONDRIAL DNA DEPLETION SYNDROME 1 | TYMP | Causal | CTD, HPO, ClinVar, Disgenet | |||
| MITOCHONDRIAL DNA DEPLETION SYNDROME 11 | MGME1 | Causal | CTD, ClinVar, Disgenet, HPO | — | ||
| MITOCHONDRIAL DNA DEPLETION SYNDROME 13 | FBXL4 | Causal | CTD, HPO, ClinVar, GWAS catalog | |||
| MITOCHONDRIAL DNA DEPLETION SYNDROME 17 | MRM2 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| MITOCHONDRIAL DNA DEPLETION SYNDROME 18 | SLC25A21 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| MITOCHONDRIAL DNA DEPLETION SYNDROME 19 | SLC25A10 | Causal | — | ClinVar, Disgenet, GenCC, HPO | ||
| MITOCHONDRIAL DNA DEPLETION SYNDROME 4B | EDAR | Causal | — | Disgenet | ||
| POLG | Causal | CTD, Disgenet, HPO, ClinVar | ||||
| MITOCHONDRIAL DNA DEPLETION SYNDROME 8A | RRM2B | Causal | CTD, Disgenet, HPO, ClinVar, GWAS catalog | |||
| MITOCHONDRIAL DNA DEPLETION SYNDROME 9 | SUCLG1 | Causal | CTD, Disgenet, HPO, ClinVar, GenCC | |||
| MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH METHYLMALONIC ACIDURIA | SUCLA2 | Causal | ClinVar, Disgenet, Orphanet | |||
| MITOCHONDRIAL DNA DEPLETION SYNDROME, MYOPATHIC FORM | TK2 | Causal | ClinVar, Disgenet, GenCC, Orphanet |