Skeletal dysplasia
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| SKELETAL DYSPLASIA | COL1A2 | Causal | — | Disgenet | ||
| COPB1 | Causal | — | Disgenet | |||
| GALNS | Causal | — | Disgenet | |||
| TRPV4 | Causal | — | Disgenet | |||
| SKELETAL DYSPLASIA AND PROGRESSIVE CENTRAL NERVOUS SYSTEM DEGENERATION, LETHAL | TRPV4 | Causal | — | Disgenet | ||
| SKELETAL DYSPLASIA WITH ACANTHOSIS NIGRICANS | FGFR3 | Causal | — | Disgenet | ||
| SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE | CSGALNACT1 | Causal | ClinGen, Disgenet, GWAS catalog, HPO |