Overview
- Term
- skeletal dysplasia
- HPO
- -
- OMIM
- -
- In SaudiVarKB
- 49 articles, 49 mentions
Co-reported genes
Genes named in the same articles as skeletal dysplasia. Co-mention, not a proven association.
and 13 more
Variants in these articles
Variants reported in articles that mention skeletal dysplasia; the gene is shown only when the link was confirmed by dbSNP or LitVar2.
| Variant | Gene | Articles |
|---|---|---|
| C19F | - | 1 |
| IVS15+3G>T | - | 1 |
| c.1075G>A | - | 1 |
| c.1138G>A | - | 1 |
| c.1205T>A | - | 1 |
| c.2257dup | - | 1 |
| c.244-29A>G | - | 1 |
| c.3153dupC | - | 1 |
| c.354_357delinsCACTC | - | 1 |
| c.9041G>T | - | 1 |
| c.95_96insT | - | 1 |
| p.Ala199Pro | CEP120 | 1 |
| p.Arg3014Ile | - | 1 |
| p.E359K | - | 1 |
| p.Gly380Arg | - | 1 |
| p.I650T | - | 1 |
| p.Leu20* | - | 1 |
| p.Leu402Ter | - | 1 |
| p.S991N | - | 1 |
| p.W33Lfs | - | 1 |
Saudi regions
| Region | Articles |
|---|---|
| Riyadh | 1 |