Spondylometaphyseal dysplasia
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE TYPE | PAM16 | Causal | Orphanet, ClinVar, Disgenet | — | ||
| SPONDYLOMETAPHYSEAL DYSPLASIA | FN1 | Causal | — | Disgenet | ||
| SPONDYLOMETAPHYSEAL DYSPLASIA - SUTCLIFFE TYPE |
|
COL2A1 | Causal | — | ClinVar | |
| FN1 | Causal | — | ClinVar | |||
| SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY | PLCB3 | Causal | ClinVar, GWAS catalog, HPO | |||
| SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE | TRPV4 | Causal | CTD, ClinVar, Disgenet, HPO, Orphanet | |||
| SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE | PRKG2 | Causal | — | ClinVar, Disgenet, HPO | ||
| SPONDYLOMETAPHYSEAL DYSPLASIA, SCHMIDT TYPE | COL2A1 | Causal | ClinVar, GWAS catalog, Orphanet | |||
| SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE | GPX4 | Causal | CTD, ClinVar, Disgenet, HPO, Orphanet | |||
| SPONDYLOMETAPHYSEAL DYSPLASIA-CONE-ROD DYSTROPHY SYNDROME | PCYT1A | Causal | ClinGen, ClinVar, GWAS catalog, Orphanet |