| Disease ID | Disease name | Source of annotation with FLNA | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 305620 | FRONTOMETAPHYSEAL DYSPLASIA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | FLNA |
| 309350 | MELNICK-NEEDLES SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | FLNA |
| 300049 | PERIVENTRICULAR NODULAR HETEROTOPIA 1 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | FLNA |
| 300048 | INTESTINAL PSEUDOOBSTRUCTION, NEURONAL, CHRONIC IDIOPATHIC, X-LINKED | OMIM | link to OMIM | 1 | FLNA |
| 311300 | OTOPALATODIGITAL SYNDROME, TYPE I | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | FLNA |
| 300244 | TERMINAL OSSEOUS DYSPLASIA | ClinVar, OMIM | link to OMIM | 1 | FLNA |
| 314400 | CARDIAC VALVULAR DYSPLASIA, X-LINKED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | FLNA |
| 304120 | OTOPALATODIGITAL SYNDROME, TYPE II | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | FLNA |
| 300321 | FG SYNDROME 2 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | FLNA |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Proteoglycans in cancer | hsa05205 | 5.02 |
| Salmonella infection | hsa05132 | 6.29 |
| Focal adhesion | hsa04510 | 4.92 |
| MAPK signaling pathway | hsa04010 | 4.63 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| RHO GTPase Effectors | R-HSA-195258 | 4.94 |
| Platelet degranulation | R-HSA-114608 | 6.68 |
| Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
| Signaling by Rho GTPases | R-HSA-194315 | 4.43 |
| Cell junction organization | R-HSA-446728 | 6.51 |
| Cell-Cell communication | R-HSA-1500931 | 5.87 |
| GP1b-IX-V activation signalling | R-HSA-430116 | 9.66 |
| Cell-extracellular matrix interactions | R-HSA-446353 | 8.81 |
| Response to elevated platelet cytosolic Ca2+ | R-HSA-76005 | 6.59 |
| Hemostasis | R-HSA-109582 | 3.98 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| RHO GTPases activate PAKs | R-HSA-5627123 | 8.59 |
| GO term | GO ID | GO IC |
|---|---|---|
| nucleic acid binding | GO:0003676 | 1.44 |
| mu-type opioid receptor binding | GO:0031852 | 8.35 |
| enzyme binding | GO:0019899 | 2.27 |
| small GTPase binding | GO:0031267 | 4.13 |
| GTPase binding | GO:0051020 | 4.05 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| signal transducer activity | GO:0004871 | 2.28 |
| immunoglobulin receptor binding | GO:0034987 | 6.48 |
| Fc-gamma receptor I complex binding | GO:0034988 | 9.05 |
| G-protein coupled receptor binding | GO:0001664 | 4.18 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| Ral GTPase binding | GO:0017160 | 7.17 |
| glycoprotein binding | GO:0001948 | 5.11 |
| actin binding | GO:0003779 | 3.74 |
| protein complex binding | GO:0032403 | 3.09 |
| transcription factor binding | GO:0008134 | 3.46 |
| identical protein binding | GO:0042802 | 2.63 |
| protein homodimerization activity | GO:0042803 | 3.16 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| actin filament binding | GO:0051015 | 4.93 |
| Ras GTPase binding | GO:0017016 | 4.2 |
| SMAD binding | GO:0046332 | 5.45 |
| kinase binding | GO:0019900 | 3.32 |
| Rho GTPase binding | GO:0017048 | 5.36 |
| protein dimerization activity | GO:0046983 | 2.72 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| opioid receptor binding | GO:0031628 | 7.54 |
| Rac GTPase binding | GO:0048365 | 6.05 |
| RNA binding | GO:0003723 | 2.36 |
| protein binding | GO:0005515 | 0.46 |
| receptor binding | GO:0005102 | 2.43 |