Silver-russell syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SILVER-RUSSELL SYNDROME | CDKN1C | Unknown | — | GenCC | |
| CSH1 | Unknown | CTD | |||
| FOXP2 | Unknown | CTD | |||
| GH2 | Unknown | CTD | |||
| IGF2 | Unknown | CTD | |||
| SILVER-RUSSELL SYNDROME 1 | HMGA2 | Causal | — | Disgenet | |
| IGF2 | Causal | — | ClinVar Disgenet HPO | ||
| PLAG1 | Causal | — | Disgenet | ||
| - | Unknown | — | HPO | ||
| DLK1 | Unknown | — | Disgenet | ||
| INS-IGF2 | Unknown | — | Disgenet | ||
| SILVER-RUSSELL SYNDROME 3 | IGF2 | Causal | ClinGen ClinVar Disgenet GWAS catalog HPO | ||
| INS-IGF2 | Unknown | — | Disgenet | ||
| SILVER-RUSSELL SYNDROME 4 | PLAG1 | Causal | ClinVar Disgenet GWAS catalog HPO | ||
| SILVER-RUSSELL SYNDROME 5 | HMGA2 | Causal | — | ClinGen ClinVar Disgenet GenCC HPO | |
| SILVER-RUSSELL SYNDROME DUE TO 11P15 MICRODUPLICATION | IGF2 | Unknown | Disgenet Orphanet | ||
| SILVER-RUSSELL SYNDROME DUE TO A POINT MUTATION | CDKN1C | Unknown | Disgenet Orphanet | ||
| HMGA2 | Unknown | Disgenet Orphanet | |||
| IGF2 | Unknown | Disgenet Orphanet | |||
| PLAG1 | Unknown | Disgenet Orphanet | |||
| SILVER-RUSSELL SYNDROME DUE TO AN IMPRINTING DEFECT OF 11P15 | IGF2 | Unknown | Disgenet Orphanet | ||
| SILVER-RUSSELL SYNDROME DUE TO MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME 7 | GRB10 | Unknown | Orphanet |