Jeune syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| ASPHYXIA NEONATORUM | BMP1 | Unknown | GWAS catalog | ||
| BRINP1 | Unknown | GWAS catalog | |||
| CARD16 | Unknown | GWAS catalog | |||
| CAT | Unknown | CTD Disgenet | |||
| CLDN24 | Unknown | GWAS catalog | |||
| COL1A1 | Unknown | — | Disgenet | ||
| GSTM1 | Unknown | — | Disgenet | ||
| KAZN | Unknown | GWAS catalog | |||
| KHDRBS3 | Unknown | GWAS catalog | |||
| LIN28B | Unknown | GWAS catalog | |||
| LUZP2 | Unknown | GWAS catalog | |||
| MAP3K14 | Unknown | GWAS catalog | |||
| OR4E2 | Unknown | GWAS catalog | |||
| PSEN1 | Unknown | CTD Disgenet | |||
| PSEN2 | Unknown | CTD Disgenet | |||
| PTGS2 | Unknown | CTD Disgenet | |||
| RASGEF1B | Unknown | GWAS catalog | |||
| SEMA6D | Unknown | GWAS catalog | |||
| SOD1 | Unknown | CTD Disgenet | |||
| SOD2 | Unknown | CTD Disgenet | |||
| THADA | Unknown | GWAS catalog | |||
| ZCCHC7 | Unknown | GWAS catalog | |||
| ZFR | Unknown | GWAS catalog | |||
| ZNF787 | Unknown | GWAS catalog | |||
| ASPHYXIATING THORACIC DYSPLASIA JEUNE | 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 | ||
| ASPHYXIATING THORACIC DYSTROPHY 2 | IFT80 | Causal | CTD ClinGen ClinVar Disgenet | ||
| ASPHYXIATING THORACIC DYSTROPHY 3 | DYNC2H1 | Causal | ClinGen ClinVar Disgenet | ||
| ASPHYXIATING THORACIC DYSTROPHY 4 | TTC21B | Causal | — | ClinVar GenCC | |
| ASPHYXIATING THORACIC DYSTROPHY 5 | WDR19 | Causal | ClinVar GenCC | ||
| JEUNE SYNDROME | CEP120 | Unknown | CTD Orphanet | ||
| DYNC2H1 | Unknown | GWAS catalog Orphanet | |||
| DYNC2I1 | Unknown | GWAS catalog Orphanet | |||
| DYNC2I2 | Unknown | GWAS catalog Orphanet | |||
| DYNC2LI1 | Unknown | GWAS catalog Orphanet | |||
| GRK2 | Unknown | — | GenCC |