Disease ID | Disease name | Source of annotation with SHANK2 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS209850 | AUTISM, SUSCEPTIBLITY TO | ClinVar, OMIM | link to OMIM | 13 | CNTNAP2, PTCHD1, NLGN3, EN2, MET, MECP2, SHANK2, TMLHE, SLC9A9, CHD8, NLGN4X, EIF4E, RPL10 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Glutamatergic synapse | hsa04724 | 5.84 |
GO term | GO ID | GO IC |
---|---|---|
protein binding | GO:0005515 | 0.46 |
receptor signaling complex scaffold activity | GO:0030159 | 6.6 |
SH3 domain binding | GO:0017124 | 4.98 |
ionotropic glutamate receptor binding | GO:0035255 | 6.56 |
structural molecule activity | GO:0005198 | 3.1 |
protein complex scaffold | GO:0032947 | 5.5 |
GKAP/Homer scaffold activity | GO:0030160 | 8.64 |
receptor binding | GO:0005102 | 2.43 |
glutamate receptor binding | GO:0035254 | 6.13 |
protein domain specific binding | GO:0019904 | 3.32 |
binding | GO:0005488 | 0.18 |