Disease ID | Disease name | Source of annotation with ACTN1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS231200 | BLEEDING DISORDER, PLATELET-TYPE | ClinVar, OMIM, HUMSAVAR | link to OMIM | 21 | NBEAL2, ANO6, GP1BA, ITGA2, GFI1B, ITGA2B, PLAU, PRKACG, P2RY12, ACTN1, TBXAS1, P2RX1, GP6, CD36, SLFN14, ITGB3, GP9, GP1BB, RASGRP2, TBXA2R, MYH9 |
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KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Systemic lupus erythematosus | hsa05322 | 5.95 |
Viral carcinogenesis | hsa05203 | 5.08 |
Tight junction | hsa04530 | 5.53 |
Leukocyte transendothelial migration | hsa04670 | 5.74 |
Amoebiasis | hsa05146 | 5.82 |
Focal adhesion | hsa04510 | 4.92 |
Adherens junction | hsa04520 | 6.26 |
Arrhythmogenic right ventricular cardiomyopathy (ARVC) | hsa05412 | 6.32 |
Regulation of actin cytoskeleton | hsa04810 | 4.9 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Platelet degranulation | R-HSA-114608 | 6.68 |
Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
Regulation of cytoskeletal remodeling and cell spreading by IPP complex components | R-HSA-446388 | 9.98 |
Cell junction organization | R-HSA-446728 | 6.51 |
Response to elevated platelet cytosolic Ca2+ | R-HSA-76005 | 6.59 |
Cell-Cell communication | R-HSA-1500931 | 5.87 |
Extracellular matrix organization | R-HSA-1474244 | 4.91 |
Cell-extracellular matrix interactions | R-HSA-446353 | 8.81 |
Syndecan interactions | R-HSA-3000170 | 8.23 |
Non-integrin membrane-ECM interactions | R-HSA-3000171 | 7.1 |
Hemostasis | R-HSA-109582 | 3.98 |
Nephrin interactions | R-HSA-373753 | 8.46 |
GO term | GO ID | GO IC |
---|---|---|
vinculin binding | GO:0017166 | 7.34 |
macromolecular complex binding | GO:0044877 | 2.61 |
binding | GO:0005488 | 0.18 |
nucleic acid binding | GO:0003676 | 1.44 |
ion channel binding | GO:0044325 | 5.02 |
heterocyclic compound binding | GO:1901363 | 1.06 |
cation binding | GO:0043169 | 1.4 |
transcription coactivator activity | GO:0003713 | 4.04 |
transcription cofactor activity | GO:0003712 | 3.44 |
ion binding | GO:0043167 | 1.36 |
actin binding | GO:0003779 | 3.74 |
calcium ion binding | GO:0005509 | 3.17 |
transcription factor activity, transcription factor binding | GO:0000989 | 3.36 |
transcription factor activity, protein binding | GO:0000988 | 3.35 |
protein complex binding | GO:0032403 | 3.09 |
metal ion binding | GO:0046872 | 1.41 |
identical protein binding | GO:0042802 | 2.63 |
protein homodimerization activity | GO:0042803 | 3.16 |
integrin binding | GO:0005178 | 5.07 |
actin filament binding | GO:0051015 | 4.93 |
ligand-dependent nuclear receptor transcription coactivator activity | GO:0030374 | 5.77 |
cell adhesion molecule binding | GO:0050839 | 4.5 |
protein dimerization activity | GO:0046983 | 2.72 |
cytoskeletal protein binding | GO:0008092 | 3.02 |
organic cyclic compound binding | GO:0097159 | 1.05 |
double-stranded RNA binding | GO:0003725 | 5.58 |
RNA binding | GO:0003723 | 2.36 |
protein binding | GO:0005515 | 0.46 |
receptor binding | GO:0005102 | 2.43 |