Shprintzen-goldberg syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Shprintzen-Goldberg syndrome | 2462, C1321551 | SKI | Causal Pathogenic evidence from ClinVar | 12419246, 12857746, 23023332, 23103230, 24357594, 24736733 | ClinVar |
| FBN1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 8406497, 8563763, 9338588, 16333834, 30266093 | - | ||
| KIFBP | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |