Disease ID | Disease name | Source of annotation with ARHGAP31 | OMIM link | Number of associated genes | genes |
---|---|---|---|---|---|
PS100300 | ADAMS-OLIVER SYNDROME | ClinVar, OMIM | link to OMIM | 6 | NOTCH1, DLL4, EOGT, DOCK6, RBPJ, ARHGAP31 |
Download the gene annotation in CSV format
REACTOME pathway | REACTOME ID | REACTOME IC |
---|---|---|
Rho GTPase cycle | R-HSA-194840 | 6.04 |
Signaling by Rho GTPases | R-HSA-194315 | 4.43 |
Signal Transduction | R-HSA-162582 | 1.78 |
GO term | GO ID | GO IC |
---|---|---|
enzyme regulator activity | GO:0030234 | 2.85 |
GTPase activator activity | GO:0005096 | 4.11 |
SH3 domain binding | GO:0017124 | 4.98 |
GTPase regulator activity | GO:0030695 | 4.01 |
enzyme activator activity | GO:0008047 | 3.56 |
protein binding | GO:0005515 | 0.46 |
molecular function regulator | GO:0098772 | 2.51 |
nucleoside-triphosphatase regulator activity | GO:0060589 | 3.92 |
protein domain specific binding | GO:0019904 | 3.32 |
binding | GO:0005488 | 0.18 |