Disease ID | Disease name | Source of annotation with GDF3 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS118100 | KLIPPEL-FEIL SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 4 | MEOX1, GDF3, GDF6, MYO18B |
PS251600 | MICROPHTHALMIA, ISOLATED | ClinVar, OMIM, HUMSAVAR | link to OMIM | 7 | MFRP, ALDH1A3, RAX, GDF3, GDF6, VSX2, PRSS56 |
PS300345 | MICROPHTHALMIA, ISOLATED, WITH COLOBOMA | ClinVar, OMIM, HUMSAVAR | link to OMIM | 8 | TENM3, RBP4, GDF6, SHH, STRA6, GDF3, ABCB6, VSX2 |
120200 | COLOBOMA, OCULAR, AUTOSOMAL DOMINANT | ClinVar | link to OMIM | 4 | GDF3, YAP1, FIBP, PAX6 |
Download the gene annotation in CSV format
GO term | GO ID | GO IC |
---|---|---|
cytokine receptor binding | GO:0005126 | 4.14 |
cytokine activity | GO:0005125 | 4.34 |
growth factor activity | GO:0008083 | 4.66 |
transforming growth factor beta receptor binding | GO:0005160 | 5.81 |
enzyme binding | GO:0019899 | 2.27 |
protein kinase binding | GO:0019901 | 3.44 |
kinase binding | GO:0019900 | 3.32 |
binding | GO:0005488 | 0.18 |
protein binding | GO:0005515 | 0.46 |
receptor binding | GO:0005102 | 2.43 |