Disease ID | Disease name | Source of annotation with ACAN | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
165800 | OSTEOCHONDRITIS DISSECANS, SHORT STATURE, AND EARLY-ONSET OSTEOARTHRITIS | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | ACAN |
608361 | SPONDYLOEPIPHYSEAL DYSPLASIA, KIMBERLEY TYPE | ClinVar, OMIM | link to OMIM | 1 | ACAN |
612813 | SPONDYLOEPIMETAPHYSEAL DYSPLASIA, AGGRECAN TYPE | OMIM, HUMSAVAR | link to OMIM | 1 | ACAN |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Keratan sulfate degradation | R-HSA-2022857 | 9.28 |
Keratan sulfate biosynthesis | R-HSA-2022854 | 8.18 |
Metabolism of carbohydrates | R-HSA-71387 | 4.93 |
Keratan sulfate/keratin metabolism | R-HSA-1638074 | 7.89 |
Defective CHST6 causes MCDC1 | R-HSA-3656225 | 9.98 |
Defective B4GALT1 causes B4GALT1-CDG (CDG-2d) | R-HSA-3656244 | 9.98 |
Diseases associated with glycosaminoglycan metabolism | R-HSA-3560782 | 7.77 |
Degradation of the extracellular matrix | R-HSA-1474228 | 6.11 |
ECM proteoglycans | R-HSA-3000178 | 6.75 |
Extracellular matrix organization | R-HSA-1474244 | 4.91 |
Metabolism | R-HSA-1430728 | 2.34 |
Glycosaminoglycan metabolism | R-HSA-1630316 | 6.04 |
Diseases of glycosylation | R-HSA-3781865 | 6.89 |
Disease | R-HSA-1643685 | 3.33 |
GO term | GO ID | GO IC |
---|---|---|
cation binding | GO:0043169 | 1.4 |
extracellular matrix structural constituent | GO:0005201 | 5.37 |
metal ion binding | GO:0046872 | 1.41 |
carbohydrate derivative binding | GO:0097367 | 2.03 |
carbohydrate binding | GO:0030246 | 4.17 |
ion binding | GO:0043167 | 1.36 |
glycosaminoglycan binding | GO:0005539 | 4.42 |
hyaluronic acid binding | GO:0005540 | 6.6 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
structural molecule activity | GO:0005198 | 3.1 |
calcium ion binding | GO:0005509 | 3.17 |