Disease ID | Disease name | Source of annotation with AMELX | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS104500 | AMELOGENESIS IMPERFECTA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 12 | C4orf26, AMELX, MMP20, SLC24A4, DLX3, FAM83H, ITGB6, FAM20A, WDR72, KLK4, LAMB3, ENAM |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
extracellular matrix structural constituent | GO:0005201 | 5.37 |
growth factor activity | GO:0008083 | 4.66 |
GO:0030021 | 8.13 | |
structural molecule activity | GO:0005198 | 3.1 |
hydroxyapatite binding | GO:0046848 | 8.13 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
GO:0030345 | 8.13 | |
receptor binding | GO:0005102 | 2.43 |
identical protein binding | GO:0042802 | 2.63 |