| Disease ID | Disease name | Source of annotation with GPC6 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 258315 | OMODYSPLASIA 1 | ClinVar, OMIM | link to OMIM | 1 | GPC6 |
Download the gene annotation in CSV format
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Defective B3GAT3 causes JDSSDHD | R-HSA-3560801 | 8.66 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| Defective EXT2 causes exostoses 2 | R-HSA-3656237 | 9.28 |
| Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
| Chondroitin sulfate/dermatan sulfate metabolism | R-HSA-1793185 | 7.34 |
| HS-GAG degradation | R-HSA-2024096 | 8.52 |
| Diseases associated with glycosaminoglycan metabolism | R-HSA-3560782 | 7.77 |
| Defective B4GALT7 causes EDS, progeroid type | R-HSA-3560783 | 8.66 |
| Defective EXT1 causes exostoses 1, TRPS2 and CHDS | R-HSA-3656253 | 9.28 |
| HS-GAG biosynthesis | R-HSA-2022928 | 8.03 |
| Metabolism | R-HSA-1430728 | 2.34 |
| A tetrasaccharide linker sequence is required for GAG synthesis | R-HSA-1971475 | 8.28 |
| Retinoid metabolism and transport | R-HSA-975634 | 7.59 |
| Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
| Heparan sulfate/heparin (HS-GAG) metabolism | R-HSA-1638091 | 7.2 |
| Diseases of glycosylation | R-HSA-3781865 | 6.89 |
| Disease | R-HSA-1643685 | 3.33 |
| Visual phototransduction | R-HSA-2187338 | 6.44 |
| GO term | GO ID | GO IC |
|---|---|---|
| sulfur compound binding | GO:1901681 | 4.32 |
| glycoprotein binding | GO:0001948 | 5.11 |
| coreceptor activity involved in Wnt signaling pathway | GO:0071936 | 7.66 |
| coreceptor activity involved in Wnt signaling pathway, planar cell polarity pathway | GO:1904929 | 7.95 |
| carbohydrate derivative binding | GO:0097367 | 2.03 |
| molecular transducer activity | GO:0060089 | 2.32 |
| heparan sulfate proteoglycan binding | GO:0043395 | 6.85 |
| proteoglycan binding | GO:0043394 | 6.34 |
| receptor activity | GO:0004872 | 2.32 |
| signal transducer activity | GO:0004871 | 2.28 |
| signaling receptor activity | GO:0038023 | 2.49 |
| coreceptor activity | GO:0015026 | 6.1 |
| binding | GO:0005488 | 0.18 |