Aortic valve disease
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| AORTIC VALVE CALCIFICATION | TP53 | Unknown | — | Disgenet | |
| TREM2 | Unknown | GWAS catalog | |||
| TREML2 | Unknown | GWAS catalog | |||
| AORTIC VALVE DISEASE | CEP85L | Unknown | GWAS catalog | ||
| FADS1 | Unknown | GWAS catalog | |||
| FADS2 | Unknown | GWAS catalog | |||
| FTO | Unknown | GWAS catalog | |||
| IL6 | Unknown | GWAS catalog | |||
| LPA | Unknown | GWAS catalog | |||
| MECOM | Unknown | GWAS catalog | |||
| SLC35F1 | Unknown | GWAS catalog | |||
| TECRL | Unknown | GWAS catalog | |||
| AORTIC VALVE DISEASE 1 | NOTCH1 | Causal | CTD ClinVar Disgenet HPO | ||
| SMAD6 | Causal | — | Disgenet | ||
| TBX20 | Causal | — | Disgenet | ||
| COL5A1 | Unknown | — | Disgenet | ||
| FBN3 | Unknown | — | Disgenet | ||
| GATA5 | Unknown | — | Disgenet | ||
| KLF12 | Unknown | — | Disgenet | ||
| MGP | Unknown | — | Disgenet | ||
| ROBO4 | Unknown | — | Disgenet | ||
| ZNF626 | Unknown | — | Disgenet | ||
| AORTIC VALVE DISEASE 2 | SMAD6 | Causal | — | CTD ClinVar Disgenet GenCC HPO | |
| TBX5 | Causal | — | Disgenet | ||
| FTO | Unknown | — | Disgenet | ||
| NKX2-5 | Unknown | — | Disgenet | ||
| AORTIC VALVE DISEASE 3 | ROBO4 | Causal | ClinGen ClinVar Disgenet GWAS catalog HPO | ||
| AORTIC VALVE INSUFFICIENCY | CCN2 | Unknown | CTD Disgenet | ||
| COL1A1 | Unknown | CTD Disgenet | |||
| COL3A1 | Unknown | CTD Disgenet | |||
| FBN1 | Unknown | — | Disgenet | ||
| FN1 | Unknown | CTD Disgenet | |||
| FSTL1 | Unknown | CTD Disgenet | |||
| LOX | Unknown | CTD Disgenet | |||
| MBL2 | Unknown | — | Disgenet | ||
| NPPA | Unknown | CTD Disgenet | |||
| NPPB | Unknown | CTD Disgenet | |||
| TGFB1 | Unknown | CTD Disgenet | |||
| TGFB2 | Unknown | CTD Disgenet | |||
| TIMP1 | Unknown | CTD Disgenet | |||
| AORTIC VALVE, CALCIFICATION OF | AKT1 | Unknown | CTD | ||
| NOTCH1 | Unknown | CTD | |||
| SLC20A1 | Unknown | CTD | |||
| TP53 | Unknown | CTD |