Craniodiaphyseal dysplasia
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| CRANIODIAPHYSEAL DYSPLASIA | SOST | Unknown | Disgenet, GWAS catalog, Orphanet | |||
| SP7 | Unknown | Disgenet, Orphanet | — | |||
| CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT | SOST | Causal | CTD, ClinVar, Disgenet, GWAS catalog, HPO | |||
| CRANIOECTODERMAL DYSPLASIA | IFT122 | Causal | CTD, Disgenet, Orphanet | |||
| IFT140 | Causal | — | Disgenet | |||
| WDR19 | Causal | CTD, Disgenet, Orphanet | ||||
| WDR35 | Causal | CTD, Disgenet, Orphanet | ||||
| CILK1 | Unknown | — | Disgenet | — | ||
| IFT43 | Unknown | CTD, Disgenet, Orphanet | ||||
| IFT52 | Unknown | Disgenet, Orphanet | ||||
| Cranioectodermal dysplasia 1 | IFT122 | Causal | ClinGen, ClinVar, Disgenet, GWAS catalog, HPO | |||
| IFT43 | Unknown | — | Disgenet | |||
| WDR19 | Unknown | — | Disgenet | |||
| WDR35 | Unknown | — | Disgenet | |||
| CRANIOECTODERMAL DYSPLASIA 2 | SPAG17 | Causal | — | Disgenet | — | |
| WDR35 | Causal | ClinGen, ClinVar, Disgenet, HPO | ||||
| CRANIOECTODERMAL DYSPLASIA 3 | IFT43 | Causal | ClinVar, Disgenet, HPO | |||
| CRANIOECTODERMAL DYSPLASIA 4 | WDR19 | Causal | ClinVar, Disgenet, GWAS catalog, HPO | |||
| CRANIOECTODERMAL DYSPLASIA 5 | IFT140 | Unknown | — | ClinVar |