Disease ID | Disease name | Source of annotation with GP6 | 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 |
---|---|---|
Platelet activation | hsa04611 | 5.66 |
ECM-receptor interaction | hsa04512 | 6.09 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Platelet Adhesion to exposed collagen | R-HSA-75892 | 9.08 |
Platelet activation, signaling and aggregation | R-HSA-76002 | 5.15 |
GPVI-mediated activation cascade | R-HSA-114604 | 7.18 |
Hemostasis | R-HSA-109582 | 3.98 |
Cell surface interactions at the vascular wall | R-HSA-202733 | 6.32 |
GO term | GO ID | GO IC |
---|---|---|
signaling receptor activity | GO:0038023 | 2.49 |
signal transducer activity | GO:0004871 | 2.28 |
molecular transducer activity | GO:0060089 | 2.32 |
transmembrane signaling receptor activity | GO:0004888 | 2.57 |
macromolecular complex binding | GO:0044877 | 2.61 |
receptor activity | GO:0004872 | 2.32 |
protein binding | GO:0005515 | 0.46 |
protein complex binding | GO:0032403 | 3.09 |
collagen binding | GO:0005518 | 5.58 |
transmembrane receptor activity | GO:0099600 | 2.53 |
binding | GO:0005488 | 0.18 |