Spondylometaphyseal dysplasia
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA MEGARBANE TYPE | PAM16 | Unknown | — | Disgenet | — | |
| AUTOSOMAL RECESSIVE SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE TYPE | PAM16 | Causal | Orphanet, ClinVar, Disgenet | — | ||
| SPONDYLOMETAPHYSEAL DYSPLASIA | FN1 | Causal | — | Disgenet | ||
| ACP5 | Unknown | — | Disgenet | |||
| COL2A1 | Unknown | Disgenet, GWAS catalog | ||||
| PLCB3 | Unknown | Disgenet, GWAS catalog | ||||
| PRKG2 | Unknown | — | Disgenet | |||
| TONSL | Unknown | — | Disgenet | — | ||
| SPONDYLOMETAPHYSEAL DYSPLASIA - SUTCLIFFE TYPE |
|
COL2A1 | Causal | — | ClinVar | |
| FN1 | Causal | — | ClinVar | |||
| SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY | PCYT1A | Unknown | — | CTD, Disgenet, HPO | ||
| SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY SYNDROME | PCYT1A | Unknown | — | Disgenet | ||
| SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY | PLCB3 | Causal | ClinVar, GWAS catalog, HPO | |||
| SPONDYLOMETAPHYSEAL DYSPLASIA WITH DENTINOGENESIS IMPERFECTA | TRIP11 | Unknown | — | Disgenet | ||
| SPONDYLOMETAPHYSEAL DYSPLASIA, 'CORNER FRACTURE' TYPE | COL2A1 | Unknown | Orphanet | |||
| FN1 | Unknown | ClinGen, GWAS catalog, Orphanet | ||||
| SPONDYLOMETAPHYSEAL DYSPLASIA, ALGERIAN TYPE | COL2A1 | Unknown | — | Disgenet, HPO | ||
| SPONDYLOMETAPHYSEAL DYSPLASIA, AXIAL | CFAP410 | Unknown | — | Disgenet, HPO | — | |
| SPONDYLOMETAPHYSEAL DYSPLASIA, CORNEAL DYSTROPHY SYNDROME | PLCB3 | Unknown | — | Disgenet | ||
| SPONDYLOMETAPHYSEAL DYSPLASIA, CORNER FRACTURE TYPE | ATIC | Unknown | — | Disgenet | ||
| COL2A1 | Unknown | — | Disgenet, HPO | |||
| FN1 | Unknown | — | Disgenet, HPO | |||
| SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE | TRPV4 | Causal | CTD, ClinVar, Disgenet, HPO, Orphanet | |||
| SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE | PAM16 | Unknown | — | HPO | — | |
| SPONDYLOMETAPHYSEAL DYSPLASIA, PAGNAMENTA TYPE | PRKG2 | Causal | — | ClinVar, Disgenet, HPO | ||
| SDR42E1 | Unknown | — | Disgenet | — | ||
| 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 | |||
| SPONDYLOMETAPHYSEAL DYSPLASIA-CORNEAL DYSTROPHY SYNDROME | PLCB3 | Unknown | Orphanet |