Spondylocostal dysostosis
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| SPONDYLOCOSTAL DYSOSTOSIS 1, AUTOSOMAL RECESSIVE | DLL3 | Causal | ClinVar, Disgenet, HPO | |||
| SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE | HES7 | Causal | — | Disgenet | ||
| LFNG | Causal | — | Disgenet | |||
| MESP2 | Causal | ClinVar, Disgenet, HPO | — | |||
| SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE | LFNG | Causal | ClinVar, Disgenet, HPO | |||
| SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE | HES7 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| SPONDYLOCOSTAL DYSOSTOSIS 5 | TBX6 | Causal | CTD, ClinVar, Disgenet, HPO | — |