Connective tissue disease
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Connective Tissue Diseases | C0009782 | ACTA2 | |
| ACVR1 | |||
| COL2A1 | |||
| COL5A1 | |||
| COL5A2 | |||
| COL9A2 | 12244547 | ||
| COL9A3 | 15551337 | ||
| COL11A1 | |||
| COL11A2 | 22246659 | ||
| FBN1 | |||
| SMAD3 | |||
| NOTCH1 | 16729972 | ||
| PKD1 | 22034641 | ||
| PKD2 | |||
| TGFBR2 | |||
| TPSAB1 | 27749843 | ||
| PRDM5 | 23680354 | ||
| STAMBPL1 | |||
| PIEZO2 | 24726473 | ||
| ZNF469 | 23680354 | ||
| SLC39A13 | 18985159, 22228435 | ||
| FLCN | 15805188 | ||
| Connective tissue disorder due to lysyl hydroxylase-3 deficiency | 300284 | PLOD3 | |
| EMILIN-1-related connective tissue disease | 485418 | EMILIN1 |