Jeune syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| 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 | |||
| 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 | ||||
| IFT140 | Unknown | Orphanet | ||||
| IFT172 | Unknown | CTD, Orphanet | ||||
| IFT80 | Unknown | Orphanet | ||||
| KIAA0753 | Unknown | Orphanet | — | |||
| TTC21B | Unknown | CTD, GWAS catalog, Orphanet | ||||
| WDR19 | Unknown | Disgenet, Orphanet |