| Disease ID | Disease name | Source of annotation with LRP5 | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 173900 | POLYCYSTIC KIDNEY DISEASE 1 | ClinVar | link to OMIM | 2 | PKD1, LRP5 |
| PS174050 | POLYCYSTIC LIVER DISEASE | ClinVar | link to OMIM | 3 | SEC63, PRKCSH, LRP5 |
| 144750 | ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT | OMIM, HUMSAVAR | link to OMIM | 1 | LRP5 |
| 601884 | BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | LRP5 |
| 259770 | OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | LRP5 |
| 607636 | VAN BUCHEM DISEASE, TYPE 2 | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | LRP5 |
| PS133780 | EXUDATIVE VITREORETINOPATHY | OMIM, HUMSAVAR | link to OMIM | 6 | NDP, TSPAN12, ZNF408, PRSS23, FZD4, LRP5 |
| 166710 | OSTEOPOROSIS | ClinVar, OMIM | link to OMIM | 7 | WNT1, CALCR, PDLIM4, COL1A1, COL1A2, VDR, LRP5 |
| PS607634 | OSTEOPETROSIS, AUTOSOMAL DOMINANT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 2 | LRP5, CLCN7 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Wnt signaling pathway | hsa04310 | 5.49 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Signaling by Wnt | R-HSA-195721 | 4.79 |
| misspliced LRP5 mutants have enhanced beta-catenin-dependent signaling | R-HSA-5339717 | 10.4 |
| RNF mutants show enhanced WNT signaling and proliferation | R-HSA-5340588 | 9.98 |
| Diseases of signal transduction | R-HSA-5663202 | 4.89 |
| Signaling by WNT in cancer | R-HSA-4791275 | 7.89 |
| disassembly of the destruction complex and recruitment of AXIN to the membrane | R-HSA-4641262 | 8.03 |
| Signal Transduction | R-HSA-162582 | 1.78 |
| TCF dependent signaling in response to WNT | R-HSA-201681 | 5.36 |
| regulation of FZD by ubiquitination | R-HSA-4641263 | 8.59 |
| negative regulation of TCF-dependent signaling by WNT ligand antagonists | R-HSA-3772470 | 9.08 |
| Disease | R-HSA-1643685 | 3.33 |
| GO term | GO ID | GO IC |
|---|---|---|
| toxin transporter activity | GO:0019534 | 7.95 |
| coreceptor activity involved in Wnt signaling pathway | GO:0071936 | 7.66 |
| protein binding | GO:0005515 | 0.46 |
| coreceptor activity involved in canonical Wnt signaling pathway | GO:1904928 | 9.05 |
| transporter activity | GO:0005215 | 2.57 |
| Wnt-activated receptor activity | GO:0042813 | 6.65 |
| molecular transducer activity | GO:0060089 | 2.32 |
| transmembrane signaling receptor activity | GO:0004888 | 2.57 |
| binding | GO:0005488 | 0.18 |
| signal transducer activity | GO:0004871 | 2.28 |
| Wnt-protein binding | GO:0017147 | 6.3 |
| signaling receptor activity | GO:0038023 | 2.49 |
| coreceptor activity | GO:0015026 | 6.1 |
| transmembrane receptor activity | GO:0099600 | 2.53 |
| receptor activity | GO:0004872 | 2.32 |