Prader-willi syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| PRADER-WILLI SYNDROME | HERC2 | Causal | — | CTD ClinVar Disgenet HPO | |
| MAGEL2 | Causal | CTD ClinVar Disgenet HPO | |||
| - | Unknown | — | HPO | ||
| MKRN3 | Unknown | — | CTD ClinVar Disgenet HPO | ||
| NDN | Unknown | — | Disgenet | ||
| NPAP1 | Unknown | — | CTD ClinVar HPO | ||
| SNRPN | Unknown | Disgenet GWAS catalog | |||
| PRADER-WILLI SYNDROME DUE TO IMPRINTING MUTATION | MAGEL2 | Unknown | Disgenet Orphanet | ||
| NDN | Unknown | Disgenet Orphanet | |||
| SNRPN | Unknown | Disgenet Orphanet | |||
| PRADER-WILLI SYNDROME DUE TO MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 15 | MAGEL2 | Unknown | Orphanet | ||
| NDN | Unknown | Orphanet | |||
| OCA2 | Unknown | Orphanet | |||
| SNRPN | Unknown | Orphanet | |||
| PRADER-WILLI SYNDROME DUE TO PATERNAL DELETION OF 15Q11Q13 TYPE 1 | MAGEL2 | Unknown | Disgenet Orphanet | ||
| NDN | Unknown | Disgenet Orphanet | |||
| OCA2 | Unknown | Disgenet Orphanet | |||
| SNRPN | Unknown | Disgenet Orphanet | |||
| PRADER-WILLI SYNDROME DUE TO PATERNAL DELETION OF 15Q11Q13 TYPE 2 | MAGEL2 | Unknown | Disgenet Orphanet | ||
| NDN | Unknown | Disgenet Orphanet | |||
| OCA2 | Unknown | Disgenet Orphanet | |||
| SNRPN | Unknown | Disgenet Orphanet | |||
| PRADER-WILLI SYNDROME DUE TO TRANSLOCATION | SNRPN | Unknown | Disgenet Orphanet | ||
| PRADER-WILLI-LIKE SYNDROME | MAGEL2 | Causal | — | Disgenet |