Disease ID | Disease name | Source of annotation with GP1BA | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
258660 | NONARTERITIC ANTERIOR ISCHEMIC OPTIC NEUROPATHY, SUSCEPTIBILITY TO | ClinVar, OMIM | link to OMIM | 1 | GP1BA |
153670 | BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | GP1BA |
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 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Platelet activation | hsa04611 | 5.66 |
ECM-receptor interaction | hsa04512 | 6.09 |
Hematopoietic cell lineage | hsa04640 | 6.18 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Platelet Aggregation (Plug Formation) | R-HSA-76009 | 7.77 |
Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
GP1b-IX-V activation signalling | R-HSA-430116 | 9.66 |
Intrinsic Pathway of Fibrin Clot Formation | R-HSA-140837 | 8.52 |
Platelet Adhesion to exposed collagen | R-HSA-75892 | 9.08 |
Formation of Fibrin Clot (Clotting Cascade) | R-HSA-140877 | 7.7 |
Hemostasis | R-HSA-109582 | 3.98 |
GO term | GO ID | GO IC |
---|---|---|
kinase inhibitor activity | GO:0019210 | 5.25 |
G-protein coupled receptor activity | GO:0004930 | 2.95 |
signaling receptor activity | GO:0038023 | 2.49 |
kinase regulator activity | GO:0019207 | 4.5 |
protein binding | GO:0005515 | 0.46 |
protein kinase regulator activity | GO:0019887 | 4.6 |
thrombin receptor activity | GO:0015057 | 8.13 |
enzyme regulator activity | GO:0030234 | 2.85 |
protein kinase inhibitor activity | GO:0004860 | 5.28 |
molecular transducer activity | GO:0060089 | 2.32 |
transmembrane signaling receptor activity | GO:0004888 | 2.57 |
peptide receptor activity | GO:0001653 | 4.84 |
G-protein coupled peptide receptor activity | GO:0008528 | 4.86 |
binding | GO:0005488 | 0.18 |
signal transducer activity | GO:0004871 | 2.28 |
enzyme inhibitor activity | GO:0004857 | 3.78 |
molecular function regulator | GO:0098772 | 2.51 |
transmembrane receptor activity | GO:0099600 | 2.53 |
receptor activity | GO:0004872 | 2.32 |