Congenital contractural arachnodactyly
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Congenital contractural arachnodactyly | 115, C0220668 | FBN2 | Causal Pathogenic evidence from ClinVar | 3495735, 4750422, 7493032, 8900230, 9106527, 9714438, 9737771, 10797416, 11285249, 11470817, 11754102, 16677079, 18767143, 19006240, 20799338, 25834781, 25975422, 27196565, 29907982, 30675029 | ClinVar |
| FBN1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |