| Disease ID | Disease name | Source of annotation with PFN1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| PS105400 | AMYOTROPHIC LATERAL SCLEROSIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 27 | CHCHD10, FIG4, ERBB4, SQSTM1, ATXN2, UBQLN2, DCTN1, FUS, NEFH, PFN1, VAPB, MATR3, ALS2, TBK1, SPG11, TARDBP, TUBA4A, SIGMAR1, SOD1, CHMP2B, PRPH, ANG, VCP, OPTN, C9orf72, HNRNPA1, SETX |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Salmonella infection | hsa05132 | 6.29 |
| Rap1 signaling pathway | hsa04015 | 4.97 |
| Shigellosis | hsa05131 | 6.74 |
| Regulation of actin cytoskeleton | hsa04810 | 4.9 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| RHO GTPase Effectors | R-HSA-195258 | 4.94 |
| RHO GTPases Activate Formins | R-HSA-5663220 | 6.01 |
| Signaling by Robo receptor | R-HSA-376176 | 7.98 |
| Platelet degranulation | R-HSA-114608 | 6.68 |
| PCP/CE pathway | R-HSA-4086400 | 6.47 |
| beta-catenin independent WNT signaling | R-HSA-3858494 | 5.83 |
| Response to elevated platelet cytosolic Ca2+ | R-HSA-76005 | 6.59 |
| Signaling by Rho GTPases | R-HSA-194315 | 4.43 |
| Signaling by Wnt | R-HSA-195721 | 4.79 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Axon guidance | R-HSA-422475 | 3.93 |
| Hemostasis | R-HSA-109582 | 3.98 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
| GO term | GO ID | GO IC |
|---|---|---|
| ATPase regulator activity | GO:0060590 | 6.34 |
| enzyme binding | GO:0019899 | 2.27 |
| small GTPase binding | GO:0031267 | 4.13 |
| GTPase binding | GO:0051020 | 4.05 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| molecular function regulator | GO:0098772 | 2.51 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| nucleoside phosphate binding | GO:1901265 | 1.96 |
| actin binding | GO:0003779 | 3.74 |
| proline-rich region binding | GO:0070064 | 6.79 |
| adenyl-nucleotide exchange factor activity | GO:0000774 | 7.44 |
| phospholipid binding | GO:0005543 | 3.91 |
| phosphatidylinositol-4,5-bisphosphate binding | GO:0005546 | 5.81 |
| nucleotide binding | GO:0000166 | 1.96 |
| phosphatidylinositol bisphosphate binding | GO:1902936 | 5.79 |
| purine nucleotide binding | GO:0017076 | 2.19 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| Rho GTPase binding | GO:0017048 | 5.36 |
| enzyme regulator activity | GO:0030234 | 2.85 |
| lipid binding | GO:0008289 | 3.26 |
| Ras GTPase binding | GO:0017016 | 4.2 |
| small molecule binding | GO:0036094 | 1.89 |
| actin monomer binding | GO:0003785 | 6.48 |
| phosphatidylinositol phosphate binding | GO:1901981 | 5.05 |
| nucleoside-triphosphatase regulator activity | GO:0060589 | 3.92 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| phosphatidylinositol binding | GO:0035091 | 4.47 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| adenyl nucleotide binding | GO:0030554 | 2.4 |
| RNA binding | GO:0003723 | 2.36 |
| protein binding | GO:0005515 | 0.46 |
| receptor binding | GO:0005102 | 2.43 |