Skeletal dysplasia
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| CHST3-RELATED SKELETAL DYSPLASIA | CHST3 | Unknown | Orphanet | |||
| SKELETAL DYSPLASIA | COL1A2 | Causal | — | Disgenet | ||
| COPB1 | Causal | — | Disgenet | |||
| GALNS | Causal | — | Disgenet | |||
| TRPV4 | Causal | — | Disgenet | |||
| ANKH | Unknown | — | Disgenet, GenCC | |||
| CHST3 | Unknown | — | Disgenet | |||
| COL1A1 | Unknown | — | Disgenet | |||
| COL5A1 | Unknown | — | Disgenet | |||
| CTSK | Unknown | — | Disgenet | |||
| DYNC2H1 | Unknown | — | Disgenet | |||
| FGFR3 | Unknown | — | Disgenet | |||
| INPP5E | Unknown | — | Disgenet | |||
| LOXL4 | Unknown | — | Disgenet, GenCC | |||
| MSGN1 | Unknown | — | Disgenet, GenCC | — | ||
| PRMT7 | Unknown | — | Disgenet | |||
| SEMA3A | Unknown | Disgenet, GWAS catalog | ||||
| SEMA3D | Unknown | GWAS catalog | ||||
| SLC26A2 | Unknown | GenCC | ||||
| TMEM53 | Unknown | GenCC | — | |||
| TP63 | Unknown | — | Disgenet | |||
| UXS1 | Unknown | — | Disgenet, GenCC | |||
| 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 | |||
| SKELETAL DYSPLASIA, T-CELL IMMUNODEFICIENCY, DEVELOPMENTAL DELAY SYNDROME | EXTL3 | Unknown | — | Disgenet | ||
| SKELETAL DYSPLASIA-T-CELL IMMUNODEFICIENCY-DEVELOPMENTAL DELAY SYNDROME | EXTL3 | Unknown | Orphanet |