Short rib dysplasia-polydactyly syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SHORT RIB DYSPLASIA | CEP120 | Unknown | — | Disgenet | |
| DYNC2H1 | Unknown | — | Disgenet | ||
| DYNC2I1 | Unknown | — | Disgenet | ||
| DYNC2I2 | Unknown | — | Disgenet | ||
| DYNC2LI1 | Unknown | — | Disgenet | ||
| DYNLT2B | Unknown | — | Disgenet | ||
| IFT140 | Unknown | — | Disgenet | ||
| IFT172 | Unknown | — | Disgenet | ||
| IFT52 | Unknown | — | Disgenet | ||
| INTU | Unknown | — | Disgenet | ||
| KIAA0586 | Unknown | — | Disgenet | ||
| KIAA0753 | Unknown | — | Disgenet | ||
| NEK1 | Unknown | — | Disgenet | ||
| TTC21B | Unknown | — | Disgenet | ||
| WDR19 | Unknown | — | Disgenet | ||
| WDR35 | Unknown | — | Disgenet | ||
| SHORT RIB POLYDACTYLY SYNDROME TYPE 5 | WDR35 | Unknown | — | Disgenet | |
| SHORT RIB-POLYDACTYLY SYNDROME | CILK1 | Causal | — | Disgenet | |
| DYNC2H1 | Causal | CTD Disgenet | |||
| FLVCR1 | Causal | — | Disgenet | ||
| IFT43 | Causal | — | Disgenet | ||
| IFT52 | Causal | — | CTD Disgenet | ||
| INTU | Causal | — | Disgenet | ||
| NEK1 | Causal | CTD Disgenet | |||
| WDR35 | Causal | — | CTD Disgenet | ||
| CEP120 | Unknown | — | CTD | ||
| DYNC2I1 | Unknown | — | CTD | ||
| DYNC2I2 | Unknown | — | CTD | ||
| DYNC2LI1 | Unknown | — | CTD | ||
| DYNLT2B | Unknown | — | CTD | ||
| IFT140 | Unknown | — | CTD | ||
| IFT172 | Unknown | — | CTD | ||
| IFT81 | Unknown | — | Disgenet | ||
| KIAA0586 | Unknown | — | CTD | ||
| TTC21B | Unknown | — | CTD | ||
| SHORT RIB-POLYDACTYLY SYNDROME TYPE 5 | WDR35 | Unknown | Orphanet | ||
| SHORT RIB-POLYDACTYLY SYNDROME, BEEMER TYPE | DYNC2H1 | Unknown | — | Disgenet | |
| EVC2 | Unknown | — | Disgenet | ||
| IFT80 | Unknown | — | Disgenet | ||
| NEK1 | Unknown | — | Disgenet | ||
| TTC21B | Unknown | — | Disgenet | ||
| WDR19 | Unknown | — | Disgenet | ||
| SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE | IFT122 | Unknown | Orphanet | ||
| IFT80 | Unknown | Orphanet | |||
| SHORT RIB-POLYDACTYLY SYNDROME, MAJEWSKI TYPE | DYNC2H1 | Unknown | GWAS catalog Orphanet | ||
| NEK1 | Unknown | Disgenet Orphanet | |||
| TRAF3IP1 | Unknown | Disgenet Orphanet | |||
| SHORT RIB-POLYDACTYLY SYNDROME, SALDINO-NOONAN TYPE | DYNC2H1 | Unknown | Orphanet | ||
| SHORT RIB-POLYDACTYLY SYNDROME, VERMA-NAUMOFF TYPE | DYNC2H1 | Unknown | CTD Disgenet GWAS catalog Orphanet | ||
| DYNC2I1 | Unknown | Disgenet GWAS catalog Orphanet |