| Disease ID | Disease name | Source of annotation with HNF1B | OMIM link | Number of associated genes | genes |
|---|---|---|---|---|---|
| 137920 | RENAL CYSTS AND DIABETES SYNDROME | ClinVar, OMIM, HUMSAVAR | link to OMIM | 1 | HNF1B |
| 144700 | RENAL CELL CARCINOMA, NONPAPILLARY | OMIM | link to OMIM | 7 | VHL, DIRC2, RNF139, HNF1A, OGG1, HNF1B, FLCN |
| 125853 | DIABETES MELLITUS, NONINSULIN-DEPENDENT | ClinVar, OMIM, HUMSAVAR | link to OMIM | 33 | SLC2A2, HNF4A, TCF7L2, SLC30A8, GPD2, PAX4, PTPN1, SLC2A4, ABCC8, HMGA1, LIPC, NEUROD1, CDKAL1, WFS1, PPARG, RETN, AKT2, IRS2, IL6, IRS1, GCGR, CAPN10, IGF2BP2, INSR, PDX1, MTNR1B, GCK, HNF1B, HNF1A, MAPK8IP1, ENPP1, PPP1R3A, KCNJ11 |
Download the gene annotation in CSV format
| KEGG pathway | KEGG ID | KEGG IC |
|---|---|---|
| Maturity onset diabetes of the young | hsa04950 | 8.07 |
| REACTOME pathway | REACTOME ID | REACTOME IC |
|---|---|---|
| Regulation of gene expression in early pancreatic precursor cells | R-HSA-210747 | 9.98 |
| Regulation of gene expression in late stage (branching morphogenesis) pancreatic bud precursor cells | R-HSA-210744 | 10.18 |
| Regulation of beta-cell development | R-HSA-186712 | 7.98 |
| Developmental Biology | R-HSA-1266738 | 3.48 |
| GO term | GO ID | GO IC |
|---|---|---|
| transcription regulatory region DNA binding | GO:0044212 | 3.03 |
| protein binding | GO:0005515 | 0.46 |
| sequence-specific DNA binding | GO:0043565 | 2.79 |
| transcription factor activity, sequence-specific DNA binding | GO:0003700 | 2.65 |
| organic cyclic compound binding | GO:0097159 | 1.05 |
| DNA binding | GO:0003677 | 1.92 |
| nucleic acid binding transcription factor activity | GO:0001071 | 2.65 |
| transcription factor activity, RNA polymerase II distal enhancer sequence-specific binding | GO:0003705 | 5.23 |
| core promoter proximal region DNA binding | GO:0001159 | 3.82 |
| regulatory region nucleic acid binding | GO:0001067 | 3.03 |
| identical protein binding | GO:0042802 | 2.63 |
| macromolecular complex binding | GO:0044877 | 2.61 |
| binding | GO:0005488 | 0.18 |
| nucleic acid binding | GO:0003676 | 1.44 |
| regulatory region DNA binding | GO:0000975 | 3.03 |
| protein complex binding | GO:0032403 | 3.09 |
| protein dimerization activity | GO:0046983 | 2.72 |
| protein heterodimerization activity | GO:0046982 | 3.64 |
| heterocyclic compound binding | GO:1901363 | 1.06 |
| RNA polymerase II transcription factor activity, sequence-specific DNA binding | GO:0000981 | 3.29 |
| protein homodimerization activity | GO:0042803 | 3.16 |