| Gene | Associated with ROBINOW SYNDROME in | Link to HGNC | Cytogenetic band | Number of associated diseases | Associated diseases |
|---|---|---|---|---|---|
| DVL3 | ClinVar, OMIM | HGNC link | 3q27.1 | 1 | PS268310 |
| WNT5A | ClinVar, OMIM, HUMSAVAR | HGNC link | 3p14.3 | 1 | PS268310 |
| DVL1 | OMIM | HGNC link | 1p36.33 | 1 | PS268310 |
| ROR2 | ClinVar, OMIM, HUMSAVAR | HGNC link | 9q22.31 | 2 | 113000, PS268310 |
Download the disease annotation in CSV format
| regulated gene | associated to this disease | # TFs | TFs | # TFs associated with this disease | TFs associated with this disease |
|---|---|---|---|---|---|
| WNT5A | YES | 3 | HOXB7, CUX1, PITX2 | 0 |
| Gene1 | Gene2 | Direct Interaction | Number of shared interactors | Shared genes in interaction |
|---|---|---|---|---|
| DVL3 | DVL1 | Yes | 24 | WWOX, CSNK1E, SSX2IP, NUMA1, XPO1, RASSF10, CSNK1D, CEP135, CEP128, AXIN1, WWTR1, DVL3, DAB2, CTNNB1, LRRK2, CEP19, RASSF9, CEP44, DVL1, CYLD, CSNK2A1, HUWE1, DVL2, ITCH |
| DVL3 | ROR2 | No | 2 | NTRK1, NXF1 |
| DVL1 | ROR2 | No | 1 | TMEM17 |
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
Direct interactions graph
Interactions graph (direct and indirect interactions, when direct are not available)
| KEGG term | KEGG term ID | IC | Number of genes with the same term | Genes |
|---|---|---|---|---|
| Signaling pathways regulating pluripotency of stem cells | hsa04550 | 5.6 | 3 | DVL1, DVL3, WNT5A |
| Pathways in cancer | hsa05200 | 3.98 | 3 | DVL1, DVL3, WNT5A |
| Basal cell carcinoma | hsa05217 | 6.79 | 3 | DVL1, DVL3, WNT5A |
| Hippo signaling pathway | hsa04390 | 5.37 | 3 | DVL1, DVL3, WNT5A |
| Melanogenesis | hsa04916 | 5.97 | 3 | DVL1, DVL3, WNT5A |
| HTLV-I infection | hsa05166 | 4.59 | 3 | DVL1, DVL3, WNT5A |
| Wnt signaling pathway | hsa04310 | 5.49 | 3 | DVL1, DVL3, WNT5A |
| Notch signaling pathway | hsa04330 | 7.12 | 2 | DVL3, DVL1 |
| Term | New enriched term | IC | P value | Genes |
|---|---|---|---|---|
| Signaling pathways regulating pluripotency of stem cells (hsa04550) | - | 5.6 | 0.0 | DVL1, DVL3, WNT5A, ROR2 |
| Cancers: Specific types | NEW | 4.1 | 0.003 | DVL1, DVL3, WNT5A, ROR2 |
| Proteoglycans in cancer (hsa05205) | NEW | 5.02 | 0.0 | DVL1, DVL3, WNT5A, ROR2 |
| Infectious diseases: Viral | NEW | 3.29 | 0.022 | DVL1, DVL3, WNT5A |
| Pathways in cancer (hsa05200) | - | 3.98 | 0.005 | DVL1, DVL3, WNT5A, ROR2 |
| Basal cell carcinoma (hsa05217) | - | 6.79 | 0.0 | DVL1, DVL3, WNT5A, ROR2 |
| Notch signaling pathway (hsa04330) | - | 7.12 | 0.011 | DVL3, DVL1 |
| Hedgehog signaling pathway (hsa04340) | NEW | 7.01 | 0.019 | WNT5A, ROR2 |
| Hippo signaling pathway (hsa04390) | - | 5.37 | 0.0 | DVL1, DVL3, WNT5A, ROR2 |
| Endocrine system | NEW | 3.26 | 0.024 | DVL1, DVL3, WNT5A |
| Cellular community | NEW | 3.57 | 0.02 | DVL1, DVL3, WNT5A, ROR2 |
| Melanogenesis (hsa04916) | - | 5.97 | 0.0 | DVL1, DVL3, WNT5A, ROR2 |
| HTLV-I infection (hsa05166) | - | 4.59 | 0.001 | DVL1, DVL3, WNT5A, ROR2 |
| Wnt signaling pathway (hsa04310) | - | 5.49 | 0.0 | DVL1, DVL3, WNT5A, ROR2 |
| REACTOME term | REACTOME term ID | IC | Number of genes with the same term | Genes |
|---|---|---|---|---|
| beta-catenin independent WNT signaling | R-HSA-3858494 | 5.83 | 4 | DVL1, DVL3, WNT5A, ROR2 |
| Signaling by Wnt | R-HSA-195721 | 4.79 | 4 | DVL1, DVL3, WNT5A, ROR2 |
| PCP/CE pathway | R-HSA-4086400 | 6.47 | 4 | DVL1, DVL3, WNT5A, ROR2 |
| Signal Transduction | R-HSA-162582 | 1.78 | 4 | DVL1, DVL3, WNT5A, ROR2 |
| TCF dependent signaling in response to WNT | R-HSA-201681 | 5.36 | 3 | DVL1, DVL3, WNT5A |
| RHO GTPase Effectors | R-HSA-195258 | 4.94 | 2 | DVL3, DVL1 |
| negative regulation of TCF-dependent signaling by DVL-interacting proteins | R-HSA-5368598 | 10.66 | 2 | DVL3, DVL1 |
| Signaling by Rho GTPases | R-HSA-194315 | 4.43 | 2 | DVL3, DVL1 |
| RHO GTPases Activate Formins | R-HSA-5663220 | 6.01 | 2 | DVL3, DVL1 |
| WNT mediated activation of DVL | R-HSA-201688 | 9.98 | 2 | DVL3, DVL1 |
| WNT5A-dependent internalization of FZD2, FZD5 and ROR2 | R-HSA-5140745 | 10.66 | 2 | WNT5A, ROR2 |
| disassembly of the destruction complex and recruitment of AXIN to the membrane | R-HSA-4641262 | 8.03 | 2 | DVL3, DVL1 |
| degradation of DVL | R-HSA-4641258 | 7.18 | 2 | DVL3, DVL1 |
| GO | IC | Number of genes with the same GO | Genes |
|---|---|---|---|
| G-protein coupled receptor binding (GO:0001664) | 4.18 | 4 | DVL1, DVL3, WNT5A, ROR2 |
| receptor binding (GO:0005102) | 2.43 | 4 | DVL1, DVL3, WNT5A, ROR2 |
| binding (GO:0005488) | 0.18 | 4 | DVL1, DVL3, WNT5A, ROR2 |
| protein binding (GO:0005515) | 0.46 | 4 | DVL1, DVL3, WNT5A, ROR2 |
| frizzled binding (GO:0005109) | 6.1 | 4 | DVL1, DVL3, WNT5A, ROR2 |
| enzyme binding (GO:0019899) | 2.27 | 2 | DVL3, DVL1 |
| organic cyclic compound binding (GO:0097159) | 1.05 | 2 | WNT5A, ROR2 |
| Rac GTPase binding (GO:0048365) | 6.05 | 2 | DVL3, DVL1 |
| Rho GTPase binding (GO:0017048) | 5.36 | 2 | DVL3, DVL1 |
| Ras GTPase binding (GO:0017016) | 4.2 | 2 | DVL3, DVL1 |
| small GTPase binding (GO:0031267) | 4.13 | 2 | DVL3, DVL1 |
| GTPase binding (GO:0051020) | 4.05 | 2 | DVL3, DVL1 |
| beta-catenin binding (GO:0008013) | 5.3 | 2 | DVL3, DVL1 |
| signal transducer activity (GO:0004871) | 2.28 | 2 | WNT5A, ROR2 |
| heterocyclic compound binding (GO:1901363) | 1.06 | 2 | WNT5A, ROR2 |
| Term | New enriched term | IC | P value | Genes |
|---|---|---|---|---|
| phosphotransferase activity, alcohol group as acceptor (GO:0016773) | NEW | 3.08 | 0.022 | DVL1, DVL3, WNT5A, ROR2 |
| kinase activity (GO:0016301) | NEW | 2.93 | 0.034 | DVL1, DVL3, WNT5A, ROR2 |
| RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228) | NEW | 3.98 | 0.023 | DVL1, DVL3, WNT5A |
| RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982) | NEW | 3.94 | 0.024 | DVL1, DVL3, WNT5A |
| frizzled binding (GO:0005109) | - | 6.1 | 0.0 | DVL1, DVL3, WNT5A, ROR2 |
| PDZ domain binding (GO:0030165) | NEW | 5.22 | 0.002 | DVL1, DVL3, WNT5A |
| protein kinase activity (GO:0004672) | NEW | 3.27 | 0.012 | DVL1, DVL3, WNT5A, ROR2 |
| Wnt-protein binding (GO:0017147) | NEW | 6.3 | 0.006 | WNT5A, ROR2 |
| G-protein coupled receptor binding (GO:0001664) | - | 4.18 | 0.0 | DVL1, DVL3, WNT5A, ROR2 |
| receptor binding (GO:0005102) | - | 2.43 | 0.002 | DVL1, DVL3, WNT5A, ROR2 |
| Term | New enriched term | IC | P value | Genes |
|---|---|---|---|---|
| clathrin-coated vesicle membrane (GO:0030665) | - | 5.6 | 0.005 | WNT5A, ROR2 |
| receptor complex (GO:0043235) | NEW | 4.01 | 0.036 | DVL1, DVL3, WNT5A |
| endocytic vesicle membrane (GO:0030666) | - | 4.82 | 0.037 | WNT5A, ROR2 |
| lateral plasma membrane (GO:0016328) | NEW | 5.89 | 0.016 | DVL3, DVL1 |
| coated vesicle membrane (GO:0030662) | - | 5.0 | 0.024 | WNT5A, ROR2 |
| organelle lumen (GO:0043233) | NEW | 3.05 | 0.015 | DVL1, DVL3, WNT5A, ROR2 |
| apicolateral plasma membrane (GO:0016327) | NEW | 7.03 | 0.001 | DVL3, DVL1 |
| clathrin-coated endocytic vesicle membrane (GO:0030669) | - | 6.09 | 0.002 | WNT5A, ROR2 |
| membrane-enclosed lumen (GO:0031974) | NEW | 3.05 | 0.02 | DVL1, DVL3, WNT5A, ROR2 |
| intracellular organelle lumen (GO:0070013) | NEW | 3.05 | 0.011 | DVL1, DVL3, WNT5A, ROR2 |
| cell cortex (GO:0005938) | NEW | 4.78 | 0.014 | DVL3, DVL1 |