| Disease ID | Disease name | Source of annotation with DIAPH1 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 616632 | SEIZURES, CORTICAL BLINDNESS, AND MICROCEPHALY SYNDROME | ClinVar, OMIM | link to OMIM | 1 | DIAPH1 |
| PS124900 | DEAFNESS, AUTOSOMAL DOMINANT | ClinVar, OMIM | link to OMIM | 33 | GJB2, DIAPH1, DFNA5, CEACAM16, CRYM, CCDC50, GJB3, KCNQ4, POU4F3, SLC17A8, MYO1A, TBC1D24, MYO7A, COL11A2, MIR96, GJB6, OSBPL2, TMC1, MYO6, P2RX2, EYA4, ACTG1, HOMER2, SIX1, WFS1, KITLG, DIABLO, COCH, TECTA, MYH9, MYH14, TNC, GRHL2 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Shigellosis | hsa05131 | 6.74 |
| Focal adhesion | hsa04510 | 4.92 |
| Regulation of actin cytoskeleton | hsa04810 | 4.9 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| RHO GTPase Effectors | R-HSA-195258 | 4.94 |
| RHO GTPases Activate Formins | R-HSA-5663220 | 6.01 |
| Signaling by Rho GTPases | R-HSA-194315 | 4.43 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| GO term | GO ID | GO IC |
|---|---|---|
| Rho GTPase binding | GO:0017048 | 5.36 |
| nucleic acid binding | GO:0003676 | 1.44 |
| cytoskeletal protein binding | GO:0008092 | 3.02 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| poly(A) RNA binding | GO:0044822 | 2.69 |
| receptor binding | GO:0005102 | 2.43 |
| enzyme binding | GO:0019899 | 2.27 |
| Ras GTPase binding | GO:0017016 | 4.2 |
| actin binding | GO:0003779 | 3.74 |
| small GTPase binding | GO:0031267 | 4.13 |
| GTPase binding | GO:0051020 | 4.05 |
| binding | GO:0005488 | 0.18 |
| protein binding | GO:0005515 | 0.46 |
| ion channel binding | GO:0044325 | 5.02 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| RNA binding | GO:0003723 | 2.36 |