Disease ID | Disease name | Source of annotation with CNTNAP1 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS253310 | LETHAL CONGENITAL CONTRACTURE SYNDROME | ClinVar, OMIM | link to OMIM | 9 | MYBPC1, ZBTB42, ERBB3, GLE1, ADGRG6, CNTNAP1, DNM2, PIP5K1C, ADCY6 |
Download the gene annotation in CSV format
KEGG pathway | KEGG ID | KEGG IC |
---|---|---|
Cell adhesion molecules (CAMs) | hsa04514 | 5.36 |
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Neurofascin interactions | R-HSA-447043 | 10.18 |
Axon guidance | R-HSA-422475 | 3.93 |
L1CAM interactions | R-HSA-373760 | 6.19 |
Developmental Biology | R-HSA-1266738 | 3.48 |
GO term | GO ID | GO IC |
---|---|---|
SH3/SH2 adaptor activity | GO:0005070 | 5.79 |
protein binding, bridging | GO:0030674 | 4.68 |
molecular transducer activity | GO:0060089 | 2.32 |
SH3 domain binding | GO:0017124 | 4.98 |
signaling adaptor activity | GO:0035591 | 5.43 |
receptor activity | GO:0004872 | 2.32 |
protein binding | GO:0005515 | 0.46 |
binding, bridging | GO:0060090 | 4.57 |
protein domain specific binding | GO:0019904 | 3.32 |
binding | GO:0005488 | 0.18 |