Mucolipidosis
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MUCOLIPIDOSES | GNPTAB | Unknown | — | Disgenet | |
| GNPTG | Unknown | — | Disgenet | ||
| MCOLN1 | Unknown | CTD Disgenet | |||
| NEU1 | Unknown | — | Disgenet | ||
| MUCOLIPIDOSIS | GNPTAB | Causal | — | GenCC | |
| MUCOLIPIDOSIS II ALPHA BETA | GNPTAB | Unknown | — | Disgenet | |
| MUCOLIPIDOSIS II ALPHA/BETA | GNPTAB | Unknown | — | CTD HPO | |
| MUCOLIPIDOSIS III ALPHA BETA, ATYPICAL | GNPTAB | Unknown | — | Disgenet | |
| MUCOLIPIDOSIS III ALPHA/BETA | GNPTAB | Unknown | — | CTD HPO | |
| MUCOLIPIDOSIS III GAMMA | GNPTG | Unknown | — | CTD Disgenet HPO | |
| UNKL | Unknown | — | Disgenet | ||
| MUCOLIPIDOSIS IV | MCOLN1 | Unknown | — | HPO | |
| MUCOLIPIDOSIS TYPE II | GNPTAB | Causal | ClinVar GenCC Orphanet | ||
| MUCOLIPIDOSIS TYPE III ALPHA/BETA | GNPTAB | Unknown | Orphanet | ||
| MUCOLIPIDOSIS TYPE III GAMMA | GNPTG | Unknown | Orphanet | ||
| MUCOLIPIDOSIS TYPE III, ALPHA/BETA | GNPTAB | Unknown | ClinVar | ||
| MUCOLIPIDOSIS TYPE IV | MCOLN1 | Causal | ClinGen ClinVar Disgenet GenCC Orphanet | ||
| PNPLA6 | Unknown | — | Disgenet | ||
| TYPE I MUCOLIPIDOSIS | NEU1 | Unknown | — | Disgenet | |
| SGCB | Unknown | — | Disgenet | ||
| TYPE II MUCOLIPIDOSIS | GNPTAB | Unknown | — | Disgenet |