Marfan syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| MARFAN SYNDROME | FBN1 | Causal | CTD ClinGen ClinVar Disgenet GWAS catalog HPO | ||
| LTBP2 | Causal | — | Disgenet | ||
| TGFB2 | Causal | — | CTD Disgenet | ||
| TGFBR1 | Causal | — | CTD Disgenet | ||
| TGFBR2 | Causal | CTD Disgenet | |||
| ACTA2 | Unknown | — | CTD | ||
| ARIH1 | Unknown | — | CTD | ||
| BGN | Unknown | — | CTD | ||
| CAT | Unknown | CTD Disgenet | |||
| COL1A1 | Unknown | — | CTD | ||
| COL2A1 | Unknown | — | Disgenet | ||
| COL3A1 | Unknown | — | CTD Disgenet | ||
| COL5A1 | Unknown | — | CTD Disgenet | ||
| COL5A2 | Unknown | — | Disgenet | ||
| FBN2 | Unknown | — | CTD Disgenet | ||
| FLNA | Unknown | — | Disgenet | ||
| HCN4 | Unknown | — | CTD | ||
| HEY2 | Unknown | — | CTD | ||
| IPO8 | Unknown | — | CTD | ||
| JAG1 | Unknown | — | CTD | ||
| LAMC1 | Unknown | CTD Disgenet | |||
| LOX | Unknown | — | CTD | ||
| LTBP3 | Unknown | — | CTD | ||
| MAT2A | Unknown | — | CTD | ||
| MFAP5 | Unknown | — | CTD | ||
| MMP2 | Unknown | CTD Disgenet | |||
| MMP9 | Unknown | CTD Disgenet | |||
| MYH11 | Unknown | — | CTD Disgenet | ||
| MYLK | Unknown | — | CTD Disgenet | ||
| NOS2 | Unknown | CTD Disgenet | |||
| NOTCH1 | Unknown | — | CTD Disgenet | ||
| NPR3 | Unknown | — | CTD | ||
| PMEPA1 | Unknown | — | CTD | ||
| PRKG1 | Unknown | — | CTD | ||
| SLC2A10 | Unknown | — | CTD | ||
| SMAD2 | Unknown | — | CTD | ||
| SMAD3 | Unknown | — | CTD | ||
| SMAD4 | Unknown | — | CTD | ||
| SOD1 | Unknown | CTD Disgenet | |||
| SOD2 | Unknown | CTD Disgenet | |||
| TGFB3 | Unknown | — | CTD | ||
| THSD4 | Unknown | — | CTD | ||
| YY1AP1 | Unknown | — | CTD | ||
| MARFAN SYNDROME TYPE 1 | FBN1 | Unknown | — | Orphanet | |
| MARFAN SYNDROME TYPE 2 | TGFBR1 | Unknown | Disgenet Orphanet | ||
| TGFBR2 | Unknown | — | Disgenet Orphanet | ||
| MARFAN SYNDROME, TYPE I | FBN1 | Unknown | — | Disgenet |