| Disease ID | Disease name | Source of annotation with FBN1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS142623 | HIRSCHSPRUNG DISEASE | ClinVar | link to OMIM | 21 | TSC2, THBS4, PTCH1, NTF3, EDN3, AHNAK, ZHX2, GFRA1, KDR, PLAU, IRAK3, FBN1, RET, CNTN5, DPYD, GDNF, EDNRB, CREBBP, SEMA3D, FAT3, POLR2F |
| 102370 | ACROMICRIC DYSPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | FBN1 |
| PS231050 | GELEOPHYSIC DYSPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | ADAMTSL2, FBN1 |
| PS277600 | WEILL-MARCHESANI SYNDROME | OMIM | link to OMIM | 4 | LTBP2, ADAMTS10, FBN1, ADAMTS17 |
| 154700 | MARFAN SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 8 | NOTCH1, LTBP2, FBN2, FBN1, COL5A1, COL5A2, MYH11, COL3A1 |
| 184900 | STIFF SKIN SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | FBN1 |
| 604308 | MASS SYNDROME | OMIM | link to OMIM | 1 | FBN1 |
| 616914 | MARFAN LIPODYSTROPHY SYNDROME | ClinVar, OMIM | link to OMIM | 1 | FBN1 |
| 129600 | ECTOPIA LENTIS 1, ISOLATED, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | LTBP2, FBN1 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Elastic fibre formation | R-HSA-1566948 | 7.49 |
| Integrin cell surface interactions | R-HSA-216083 | 6.57 |
| Extracellular matrix organization | R-HSA-1474244 | 4.91 |
| Molecules associated with elastic fibres | R-HSA-2129379 | 7.73 |
| Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
| GO term | GO ID | GO IC |
|---|---|---|
| integrin binding | GO:0005178 | 5.07 |
| extracellular matrix structural constituent | GO:0005201 | 5.37 |
| metal ion binding | GO:0046872 | 1.41 |
| cation binding | GO:0043169 | 1.4 |
| extracellular matrix constituent conferring elasticity | GO:0030023 | 7.95 |
| ion binding | GO:0043167 | 1.36 |
| cell adhesion molecule binding | GO:0050839 | 4.5 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| protein complex binding | GO:0032403 | 3.09 |
| receptor binding | GO:0005102 | 2.43 |
| structural molecule activity | GO:0005198 | 3.1 |
| structural molecule activity conferring elasticity | GO:0097493 | 7.66 |
| calcium ion binding | GO:0005509 | 3.17 |