| Category | Name | IntersectionWithQuery | PValue | GenesInTerm | GenesInQuery | GenesInTermInQuery | ID |
|---|---|---|---|---|---|---|---|
| GeneOntologyMolecularFunction | GTPase activator activity | TBC1D3E TBC1D3 TBC1D3H TBC1D3L TBC1D3D ARHGAP30 TBC1D3C TBC1D3B TBC1D3I TBC1D3G TBC1D3K TBC1D3F | 1.93e-08 | 279 | 102 | 12 | GO:0005096 |
| GeneOntologyMolecularFunction | nucleoside-triphosphatase regulator activity | TBC1D3E TBC1D3 TBC1D3H TBC1D3L TBC1D3D ARHGEF18 ARHGAP30 TBC1D3C TBC1D3B GNA13 TBC1D3I TBC1D3G TBC1D3K TBC1D3F | 2.98e-07 | 507 | 102 | 14 | GO:0060589 |
| GeneOntologyMolecularFunction | GTPase regulator activity | TBC1D3E TBC1D3 TBC1D3H TBC1D3L TBC1D3D ARHGEF18 ARHGAP30 TBC1D3C TBC1D3B GNA13 TBC1D3I TBC1D3G TBC1D3K TBC1D3F | 2.98e-07 | 507 | 102 | 14 | GO:0030695 |
| GeneOntologyMolecularFunction | molecular function activator activity | SEMA6C TBC1D3E TBC1D3 TBC1D3H TBC1D3L TBC1D3D WNT1 ARHGAP30 IL31 SEMA3G TBC1D3C TBC1D3B FBN1 FBN2 LRRC26 TBC1D3I TBC1D3G AGRN TBC1D3K TBC1D3F | 3.59e-06 | 1233 | 102 | 20 | GO:0140677 |
| GeneOntologyMolecularFunction | calcium ion binding | PCDHGB5 LRP1B CD93 FBN1 FBN2 MEGF8 PCDHGB4 LRP4 AGRN FBN3 NOTCH2 NOTCH4 RAB11FIP3 | 1.13e-04 | 749 | 102 | 13 | GO:0005509 |
| GeneOntologyMolecularFunction | enzyme activator activity | TBC1D3E TBC1D3 TBC1D3H TBC1D3L TBC1D3D ARHGAP30 TBC1D3C TBC1D3B TBC1D3I TBC1D3G TBC1D3K TBC1D3F | 1.30e-04 | 656 | 102 | 12 | GO:0008047 |
| GeneOntologyBiologicalProcess | activation of GTPase activity | TBC1D3E TBC1D3 TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B PIP5K1A TBC1D3I TBC1D3G TBC1D3K TBC1D3F | 2.05e-13 | 109 | 101 | 12 | GO:0090630 |
| GeneOntologyBiologicalProcess | positive regulation of GTPase activity | TBC1D3E TBC1D3 TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B PIP5K1A TBC1D3I TBC1D3G AGRN TBC1D3K TBC1D3F | 2.10e-10 | 244 | 101 | 13 | GO:0043547 |
| GeneOntologyBiologicalProcess | regulation of GTPase activity | TBC1D3E TBC1D3 TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B PIP5K1A TBC1D3I TBC1D3G AGRN TBC1D3K TBC1D3F | 9.81e-09 | 335 | 101 | 13 | GO:0043087 |
| GeneOntologyBiologicalProcess | positive regulation of hydrolase activity | TBC1D3E TBC1D3 TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B PIP5K1A TBC1D3I TBC1D3G AGRN TBC1D3K TBC1D3F | 9.77e-07 | 499 | 101 | 13 | GO:0051345 |
| GeneOntologyBiologicalProcess | positive regulation of receptor clustering | 1.98e-06 | 19 | 101 | 4 | GO:1903911 | |
| GeneOntologyBiologicalProcess | positive regulation of molecular function | TBC1D3E TRAF2 TBC1D3 TBC1D3H TBC1D3L TBC1D3D WNT1 WRAP53 TBC1D3C TBC1D3B FBN1 LRRC26 LRP5 PIP5K1A PLCL1 TBC1D3I TBC1D3G AGRN NOTCH2 TBC1D3K TBC1D3F | 4.76e-06 | 1430 | 101 | 21 | GO:0044093 |
| GeneOntologyBiologicalProcess | positive regulation of catalytic activity | TBC1D3E TRAF2 TBC1D3 TBC1D3H TBC1D3L TBC1D3D WRAP53 TBC1D3C TBC1D3B FBN1 PIP5K1A TBC1D3I TBC1D3G AGRN NOTCH2 TBC1D3K TBC1D3F | 9.67e-06 | 1028 | 101 | 17 | GO:0043085 |
| GeneOntologyBiologicalProcess | regulation of receptor clustering | 1.17e-05 | 29 | 101 | 4 | GO:1903909 | |
| GeneOntologyBiologicalProcess | positive regulation of skeletal muscle acetylcholine-gated channel clustering | 2.43e-05 | 12 | 101 | 3 | GO:1904395 | |
| GeneOntologyBiologicalProcess | regulation of skeletal muscle acetylcholine-gated channel clustering | 4.97e-05 | 15 | 101 | 3 | GO:1904393 | |
| GeneOntologyBiologicalProcess | branching morphogenesis of an epithelial tube | 5.42e-05 | 198 | 101 | 7 | GO:0048754 | |
| GeneOntologyBiologicalProcess | sequestering of TGFbeta in extracellular matrix | 1.42e-04 | 4 | 101 | 2 | GO:0035583 | |
| GeneOntologyBiologicalProcess | skeletal muscle acetylcholine-gated channel clustering | 1.42e-04 | 21 | 101 | 3 | GO:0071340 | |
| GeneOntologyBiologicalProcess | morphogenesis of a branching epithelium | 1.62e-04 | 236 | 101 | 7 | GO:0061138 | |
| GeneOntologyBiologicalProcess | postsynaptic membrane organization | 1.64e-04 | 56 | 101 | 4 | GO:0001941 | |
| GeneOntologyBiologicalProcess | epithelial tube morphogenesis | 2.25e-04 | 421 | 101 | 9 | GO:0060562 | |
| GeneOntologyBiologicalProcess | morphogenesis of a branching structure | 2.80e-04 | 258 | 101 | 7 | GO:0001763 | |
| GeneOntologyBiologicalProcess | regulation of hydrolase activity | TBC1D3E TBC1D3 TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B PIP5K1A TBC1D3I TBC1D3G AGRN TBC1D3K TBC1D3F | 3.52e-04 | 878 | 101 | 13 | GO:0051336 |
| GeneOntologyCellularComponent | microfibril | 3.02e-05 | 13 | 101 | 3 | GO:0001527 | |
| GeneOntologyCellularComponent | postsynaptic recycling endosome membrane | 3.42e-04 | 6 | 101 | 2 | GO:0098944 | |
| HumanPheno | Kyphoscoliosis | 8.91e-06 | 196 | 29 | 8 | HP:0002751 | |
| HumanPheno | Blue sclerae | 2.52e-05 | 108 | 29 | 6 | HP:0000592 | |
| HumanPheno | Kyphosis | 5.87e-05 | 510 | 29 | 11 | HP:0002808 | |
| HumanPheno | Abnormal upper to lower segment ratio | 9.36e-05 | 3 | 29 | 2 | HP:0012772 | |
| HumanPheno | Mandibular pain | 9.36e-05 | 3 | 29 | 2 | HP:0200025 | |
| HumanPheno | Abnormal sclera morphology | 1.14e-04 | 141 | 29 | 6 | HP:0000591 | |
| HumanPheno | Abnormal hip bone morphology | TMEM67 ZNF407 ZNF469 FBN1 FBN2 MEGF8 SCN9A LRP4 LRP5 CEP152 AGRN HEATR3 | 1.15e-04 | 653 | 29 | 12 | HP:0003272 |
| HumanPheno | Abnormal cortical bone morphology | 1.31e-04 | 90 | 29 | 5 | HP:0003103 | |
| Domain | TBC | TBC1D3E TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B TBC1D3I TBC1D3G TBC1D3K TBC1D3F | 7.61e-14 | 49 | 99 | 10 | SM00164 |
| Domain | RabGAP-TBC | TBC1D3E TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B TBC1D3I TBC1D3G TBC1D3K TBC1D3F | 1.77e-13 | 53 | 99 | 10 | PF00566 |
| Domain | TBC_RABGAP | TBC1D3E TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B TBC1D3I TBC1D3G TBC1D3K TBC1D3F | 2.64e-13 | 55 | 99 | 10 | PS50086 |
| Domain | Rab-GTPase-TBC_dom | TBC1D3E TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B TBC1D3I TBC1D3G TBC1D3K TBC1D3F | 2.64e-13 | 55 | 99 | 10 | IPR000195 |
| Domain | EGF-like_Ca-bd_dom | LRP1B CD93 FBN1 FBN2 MEGF8 LRP4 LRP5 AGRN FBN3 NOTCH2 NOTCH4 | 5.42e-11 | 124 | 99 | 11 | IPR001881 |
| Domain | EGF_CA | 1.16e-10 | 99 | 99 | 10 | PS01187 | |
| Domain | EGF_CA | 7.49e-10 | 86 | 99 | 9 | PF07645 | |
| Domain | EGF_CA | 9.29e-10 | 122 | 99 | 10 | SM00179 | |
| Domain | EGF_Ca-bd_CS | 2.22e-09 | 97 | 99 | 9 | IPR018097 | |
| Domain | ASX_HYDROXYL | 2.91e-09 | 100 | 99 | 9 | PS00010 | |
| Domain | cEGF | 4.02e-09 | 26 | 99 | 6 | IPR026823 | |
| Domain | cEGF | 4.02e-09 | 26 | 99 | 6 | PF12662 | |
| Domain | EGF_3 | SSPOP LRP1B CD93 FBN1 FBN2 MEGF8 LRP4 LRP5 AGRN FBN3 NOTCH2 NOTCH4 | 4.19e-09 | 235 | 99 | 12 | PS50026 |
| Domain | EGF | LRP1B CD93 FBN1 FBN2 FCGBP MEGF8 LRP4 LRP5 AGRN FBN3 NOTCH2 NOTCH4 | 4.19e-09 | 235 | 99 | 12 | SM00181 |
| Domain | EGF-type_Asp/Asn_hydroxyl_site | 4.90e-09 | 106 | 99 | 9 | IPR000152 | |
| Domain | EGF-like_dom | LRP1B CD93 FBN1 FBN2 FCGBP MEGF8 LRP4 LRP5 AGRN FBN3 NOTCH2 NOTCH4 | 8.02e-09 | 249 | 99 | 12 | IPR000742 |
| Domain | Growth_fac_rcpt_ | 1.02e-08 | 156 | 99 | 10 | IPR009030 | |
| Domain | EGF_1 | SSPOP LRP1B FBN1 FBN2 MEGF8 LRP4 LRP5 USH2A AGRN FBN3 NOTCH2 NOTCH4 | 1.05e-08 | 255 | 99 | 12 | PS00022 |
| Domain | EGF_2 | SSPOP LRP1B CD93 FBN1 FBN2 MEGF8 LRP4 LRP5 AGRN FBN3 NOTCH2 NOTCH4 | 1.61e-08 | 265 | 99 | 12 | PS01186 |
| Domain | EGF-like_CS | LRP1B CD93 FBN1 FBN2 MEGF8 LRP4 LRP5 AGRN FBN3 NOTCH2 NOTCH4 | 1.37e-07 | 261 | 99 | 11 | IPR013032 |
| Domain | FBN | 1.44e-07 | 3 | 99 | 3 | IPR011398 | |
| Domain | EGF | 3.51e-07 | 126 | 99 | 8 | PF00008 | |
| Domain | TB | 4.98e-06 | 7 | 99 | 3 | PF00683 | |
| Domain | LDLRA_1 | 5.40e-06 | 48 | 99 | 5 | PS01209 | |
| Domain | LDLRA_2 | 5.99e-06 | 49 | 99 | 5 | PS50068 | |
| Domain | - | 7.94e-06 | 8 | 99 | 3 | 3.90.290.10 | |
| Domain | TB | 1.19e-05 | 9 | 99 | 3 | PS51364 | |
| Domain | TB_dom | 1.19e-05 | 9 | 99 | 3 | IPR017878 | |
| Domain | hEGF | 1.38e-05 | 28 | 99 | 4 | PF12661 | |
| Domain | Ldl_recept_b | 5.04e-05 | 14 | 99 | 3 | PF00058 | |
| Domain | LDLRB | 5.04e-05 | 14 | 99 | 3 | PS51120 | |
| Domain | - | 5.30e-05 | 39 | 99 | 4 | 2.120.10.30 | |
| Domain | LDLR_class-A_CS | 5.86e-05 | 40 | 99 | 4 | IPR023415 | |
| Domain | LY | 6.28e-05 | 15 | 99 | 3 | SM00135 | |
| Domain | LDLR_classB_rpt | 6.28e-05 | 15 | 99 | 3 | IPR000033 | |
| Domain | Ldl_recept_a | 9.37e-05 | 45 | 99 | 4 | PF00057 | |
| Domain | - | 1.02e-04 | 46 | 99 | 4 | 4.10.400.10 | |
| Domain | 6-blade_b-propeller_TolB-like | 1.02e-04 | 46 | 99 | 4 | IPR011042 | |
| Domain | LDrepeatLR_classA_rpt | 1.31e-04 | 49 | 99 | 4 | IPR002172 | |
| Domain | LDLa | 1.31e-04 | 49 | 99 | 4 | SM00192 | |
| Domain | Notch | 1.66e-04 | 4 | 99 | 2 | IPR008297 | |
| Domain | NODP | 1.66e-04 | 4 | 99 | 2 | PF07684 | |
| Domain | Notch_NODP_dom | 1.66e-04 | 4 | 99 | 2 | IPR011656 | |
| Domain | Notch_NOD_dom | 1.66e-04 | 4 | 99 | 2 | IPR010660 | |
| Domain | NOD | 1.66e-04 | 4 | 99 | 2 | PF06816 | |
| Domain | NOD | 1.66e-04 | 4 | 99 | 2 | SM01338 | |
| Domain | NODP | 1.66e-04 | 4 | 99 | 2 | SM01339 | |
| Domain | LNR | 2.75e-04 | 5 | 99 | 2 | PS50258 | |
| Domain | EGF_LAM_2 | 5.29e-04 | 30 | 99 | 3 | PS50027 | |
| Domain | EGF_LAM_1 | 5.29e-04 | 30 | 99 | 3 | PS01248 | |
| Domain | Notch_dom | 5.74e-04 | 7 | 99 | 2 | IPR000800 | |
| Domain | Notch | 5.74e-04 | 7 | 99 | 2 | PF00066 | |
| Domain | NL | 5.74e-04 | 7 | 99 | 2 | SM00004 | |
| Domain | PSI | 6.41e-04 | 32 | 99 | 3 | PF01437 | |
| Domain | Plexin_repeat | 6.41e-04 | 32 | 99 | 3 | IPR002165 | |
| Domain | Laminin_EGF | 8.36e-04 | 35 | 99 | 3 | PF00053 | |
| Domain | EGF_Lam | 8.36e-04 | 35 | 99 | 3 | SM00180 | |
| Domain | Laminin_EGF | 1.07e-03 | 38 | 99 | 3 | IPR002049 | |
| Domain | Cys-rich_flank_reg_C | 1.34e-03 | 90 | 99 | 4 | IPR000483 | |
| Domain | LRRCT | 1.34e-03 | 90 | 99 | 4 | SM00082 | |
| Domain | Fol_N | 1.48e-03 | 11 | 99 | 2 | IPR003645 | |
| Domain | FOLN | 1.48e-03 | 11 | 99 | 2 | SM00274 | |
| Domain | PSI | 1.63e-03 | 44 | 99 | 3 | IPR016201 | |
| Domain | TIL | 1.77e-03 | 12 | 99 | 2 | PF01826 | |
| Domain | C8 | 1.77e-03 | 12 | 99 | 2 | PF08742 | |
| Domain | PSI | 1.86e-03 | 46 | 99 | 3 | SM00423 | |
| Domain | - | 1.97e-03 | 333 | 99 | 7 | 2.130.10.10 | |
| Domain | WD40/YVTN_repeat-like_dom | 2.04e-03 | 335 | 99 | 7 | IPR015943 | |
| Domain | Unchr_dom_Cys-rich | 2.09e-03 | 13 | 99 | 2 | IPR014853 | |
| Domain | C8 | 2.09e-03 | 13 | 99 | 2 | SM00832 | |
| Domain | LRR_8 | 2.17e-03 | 171 | 99 | 5 | PF13855 | |
| Domain | TIL_dom | 2.43e-03 | 14 | 99 | 2 | IPR002919 | |
| Domain | Leu-rich_rpt_typical-subtyp | 2.52e-03 | 177 | 99 | 5 | IPR003591 | |
| Domain | LRR_TYP | 2.52e-03 | 177 | 99 | 5 | SM00369 | |
| Domain | SOLCAR | 2.79e-03 | 53 | 99 | 3 | PS50920 | |
| Domain | - | 2.79e-03 | 53 | 99 | 3 | 1.50.40.10 | |
| Domain | Mitochondrial_sb/sol_carrier | 2.79e-03 | 53 | 99 | 3 | IPR018108 | |
| Domain | Mito_carr | 2.79e-03 | 53 | 99 | 3 | PF00153 | |
| Domain | Mt_carrier_dom | 2.79e-03 | 53 | 99 | 3 | IPR023395 | |
| Domain | VWD | 3.18e-03 | 16 | 99 | 2 | SM00216 | |
| Domain | VWF_type-D | 3.18e-03 | 16 | 99 | 2 | IPR001846 | |
| Domain | VWFD | 3.18e-03 | 16 | 99 | 2 | PS51233 | |
| Domain | VWD | 3.18e-03 | 16 | 99 | 2 | PF00094 | |
| Domain | VWC_out | 4.48e-03 | 19 | 99 | 2 | SM00215 | |
| Domain | Semaphorin | 4.97e-03 | 20 | 99 | 2 | IPR027231 | |
| Pathway | WP_17Q12_COPY_NUMBER_VARIATION_SYNDROME | TBC1D3E TBC1D3 TBC1D3H TBC1D3L TBC1D3C TBC1D3B TBC1D3I TBC1D3G TBC1D3K | 1.15e-09 | 99 | 69 | 9 | M46448 |
| Pubmed | TBC1D3, a hominoid oncoprotein, is encoded by a cluster of paralogues located on chromosome 17q12. | TBC1D3E TBC1D3 TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B TBC1D3I TBC1D3G TBC1D3K TBC1D3F | 9.90e-29 | 11 | 104 | 11 | 16863688 |
| Pubmed | DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. | TBC1D3E TBC1D3 TBC1D3H TBC1D3D LINC02693 TBC1D3B TBC1D3G TBC1D3F | 6.22e-11 | 74 | 104 | 8 | 16625196 |
| Pubmed | Heparin/heparan sulfate controls fibrillin-1, -2 and -3 self-interactions in microfibril assembly. | 1.04e-07 | 4 | 104 | 3 | 25034023 | |
| Pubmed | PRC17, a novel oncogene encoding a Rab GTPase-activating protein, is amplified in prostate cancer. | 1.04e-07 | 4 | 104 | 3 | 12359748 | |
| Pubmed | 1.04e-07 | 4 | 104 | 3 | 8406013 | ||
| Pubmed | 2.59e-07 | 5 | 104 | 3 | 12604796 | ||
| Pubmed | 2.59e-07 | 5 | 104 | 3 | 20383322 | ||
| Pubmed | 2.59e-07 | 5 | 104 | 3 | 8471161 | ||
| Pubmed | Targeting TRIM37-driven centrosome dysfunction in 17q23-amplified breast cancer. | 1.43e-06 | 184 | 104 | 7 | 32908313 | |
| Pubmed | 1.44e-06 | 8 | 104 | 3 | 18957220 | ||
| Pubmed | 4.21e-06 | 11 | 104 | 3 | 24639464 | ||
| Pubmed | A dual-activity topoisomerase complex regulates mRNA translation and turnover. | SEMA6C ZNF628 ICE1 WRAP53 EFNA2 MEGF8 PKD1 LRP4 LRP5 HMGXB3 AGRN NOTCH2 CD276 RAB11FIP3 | 5.48e-06 | 1105 | 104 | 14 | 35748872 |
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 12399449 | ||
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 21851253 | ||
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 12429739 | ||
| Pubmed | New Evidence Supporting the Role of FBN1 in the Development of Adolescent Idiopathic Scoliosis. | 8.86e-06 | 2 | 104 | 2 | 30044367 | |
| Pubmed | Material and mechanical properties of bones deficient for fibrillin-1 or fibrillin-2 microfibrils. | 8.86e-06 | 2 | 104 | 2 | 21440062 | |
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 15131124 | ||
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 11532344 | ||
| Pubmed | Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development. | 8.86e-06 | 2 | 104 | 2 | 12524050 | |
| Pubmed | Microfibril structure masks fibrillin-2 in postnatal tissues. | 8.86e-06 | 2 | 104 | 2 | 20404337 | |
| Pubmed | Fibrillln mutations in Marfan syndrome and related phenotypes. | 8.86e-06 | 2 | 104 | 2 | 8791520 | |
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 8120105 | ||
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 35419902 | ||
| Pubmed | Fibrillin genes map to regions of conserved mouse/human synteny on mouse chromosomes 2 and 18. | 8.86e-06 | 2 | 104 | 2 | 8307578 | |
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 21115638 | ||
| Pubmed | Fibrillin assembly: dimer formation mediated by amino-terminal sequences. | 8.86e-06 | 2 | 104 | 2 | 10504303 | |
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 15221638 | ||
| Pubmed | Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. | 8.86e-06 | 2 | 104 | 2 | 7744963 | |
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 26408953 | ||
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 16973609 | ||
| Pubmed | Arg-Gly-Asp-containing domains of fibrillins-1 and -2 distinctly regulate lung fibroblast migration. | 8.86e-06 | 2 | 104 | 2 | 18006876 | |
| Pubmed | Lrp4 is a retrograde signal for presynaptic differentiation at neuromuscular synapses. | 8.86e-06 | 2 | 104 | 2 | 22854782 | |
| Pubmed | Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. | 8.86e-06 | 2 | 104 | 2 | 24833718 | |
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 24265020 | ||
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 20529844 | ||
| Pubmed | Immunohistochemical expression of fibrillin-1 and fibrillin-2 during tooth development. | 8.86e-06 | 2 | 104 | 2 | 25524144 | |
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 9576833 | ||
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 23133647 | ||
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 23587900 | ||
| Pubmed | Fibrillins 1 and 2 perform partially overlapping functions during aortic development. | 8.86e-06 | 2 | 104 | 2 | 16407178 | |
| Pubmed | Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. | 8.86e-06 | 2 | 104 | 2 | 1852206 | |
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 10359653 | ||
| Pubmed | 8.86e-06 | 2 | 104 | 2 | 20643108 | ||
| Pubmed | 2.65e-05 | 3 | 104 | 2 | 10825173 | ||
| Pubmed | 2.65e-05 | 3 | 104 | 2 | 24071006 | ||
| Pubmed | 2.65e-05 | 3 | 104 | 2 | 30201140 | ||
| Pubmed | 2.65e-05 | 3 | 104 | 2 | 24244707 | ||
| Pubmed | Differential expression of Notch genes in human osteoblastic cells. | 2.65e-05 | 3 | 104 | 2 | 11836628 | |
| Pubmed | 2.65e-05 | 3 | 104 | 2 | 21969364 | ||
| Pubmed | Diversity of human copy number variation and multicopy genes. | 2.65e-05 | 3 | 104 | 2 | 21030649 | |
| Pubmed | 2.65e-05 | 3 | 104 | 2 | 11956231 | ||
| Pubmed | 2.65e-05 | 3 | 104 | 2 | 7571419 | ||
| Pubmed | 2.65e-05 | 3 | 104 | 2 | 30404864 | ||
| Pubmed | 2.65e-05 | 3 | 104 | 2 | 11823422 | ||
| Pubmed | Notch signaling: cell fate control and signal integration in development. | 2.65e-05 | 3 | 104 | 2 | 10221902 | |
| Pubmed | 2.65e-05 | 3 | 104 | 2 | 20855508 | ||
| Pubmed | MESD is essential for apical localization of megalin/LRP2 in the visceral endoderm. | 3.32e-05 | 21 | 104 | 3 | 21337463 | |
| Pubmed | 5.29e-05 | 4 | 104 | 2 | 22696217 | ||
| Pubmed | 5.29e-05 | 4 | 104 | 2 | 12429738 | ||
| Pubmed | Prognostic roles of mRNA expression of notch receptors in non-small cell lung cancer. | 5.29e-05 | 4 | 104 | 2 | 28061457 | |
| Pubmed | 5.29e-05 | 4 | 104 | 2 | 24145721 | ||
| Pubmed | Bone overgrowth-associated mutations in the LRP4 gene impair sclerostin facilitator function. | 5.29e-05 | 4 | 104 | 2 | 21471202 | |
| Pubmed | 5.29e-05 | 4 | 104 | 2 | 20069356 | ||
| Pubmed | Expression and clinical significance of Notch receptors in human renal cell carcinoma. | 5.29e-05 | 4 | 104 | 2 | 19404845 | |
| Pubmed | 5.29e-05 | 4 | 104 | 2 | 28669409 | ||
| Pubmed | Human eye development is characterized by coordinated expression of fibrillin isoforms. | 5.29e-05 | 4 | 104 | 2 | 25406291 | |
| Pubmed | 5.29e-05 | 4 | 104 | 2 | 20729550 | ||
| Pubmed | 5.29e-05 | 4 | 104 | 2 | 11466531 | ||
| Pubmed | 5.29e-05 | 4 | 104 | 2 | 24151014 | ||
| Pubmed | 5.29e-05 | 4 | 104 | 2 | 11401408 | ||
| Pubmed | 5.29e-05 | 4 | 104 | 2 | 37356721 | ||
| Pubmed | 5.29e-05 | 4 | 104 | 2 | 11336703 | ||
| Pubmed | 5.29e-05 | 4 | 104 | 2 | 16835936 | ||
| Pubmed | Notch as a mediator of cell fate determination in hematopoiesis: evidence and speculation. | 5.29e-05 | 4 | 104 | 2 | 10194420 | |
| Pubmed | Functional conservation of mouse Notch receptor family members. | 5.29e-05 | 4 | 104 | 2 | 8898100 | |
| Pubmed | 5.29e-05 | 4 | 104 | 2 | 15064719 | ||
| Pubmed | 5.29e-05 | 4 | 104 | 2 | 11459941 | ||
| Pubmed | Shh Plays an Inhibitory Role in Cusp Patterning by Regulation of Sostdc1. | 5.29e-05 | 4 | 104 | 2 | 30325689 | |
| Pubmed | Mutational analysis of NOTCH1, 2, 3 and 4 genes in common solid cancers and acute leukemias. | 5.29e-05 | 4 | 104 | 2 | 18184405 | |
| Pubmed | Notch signaling in the mammalian central nervous system: insights from mouse mutants. | 5.29e-05 | 4 | 104 | 2 | 15917835 | |
| Pubmed | 5.29e-05 | 4 | 104 | 2 | 23444212 | ||
| Pubmed | Deregulated expression of Notch receptors in human hepatocellular carcinoma. | 5.29e-05 | 4 | 104 | 2 | 17920003 | |
| Pubmed | 8.80e-05 | 5 | 104 | 2 | 26601954 | ||
| Pubmed | Expression patterns of Notch receptors and their ligands Jagged and Delta in human placenta. | 8.80e-05 | 5 | 104 | 2 | 21726900 | |
| Pubmed | Cell autonomous and non-cell autonomous functions of Otx2 in patterning the rostral brain. | 8.80e-05 | 5 | 104 | 2 | 10477297 | |
| Pubmed | 8.80e-05 | 5 | 104 | 2 | 20547088 | ||
| Pubmed | 8.80e-05 | 5 | 104 | 2 | 21124806 | ||
| Pubmed | Head inducer Dickkopf-1 is a ligand for Wnt coreceptor LRP6. | 8.80e-05 | 5 | 104 | 2 | 11448771 | |
| Pubmed | Agrin-Lrp4-Ror2 signaling regulates adult hippocampal neurogenesis in mice. | 8.80e-05 | 5 | 104 | 2 | 31268420 | |
| Pubmed | 8.80e-05 | 5 | 104 | 2 | 12590922 | ||
| Pubmed | 8.80e-05 | 5 | 104 | 2 | 23675950 | ||
| Pubmed | 8.80e-05 | 5 | 104 | 2 | 11101851 | ||
| Pubmed | 8.80e-05 | 5 | 104 | 2 | 12242712 | ||
| Pubmed | 8.80e-05 | 5 | 104 | 2 | 17255108 | ||
| Pubmed | 8.80e-05 | 5 | 104 | 2 | 15882997 | ||
| Pubmed | 8.80e-05 | 5 | 104 | 2 | 34411563 | ||
| Pubmed | 8.80e-05 | 5 | 104 | 2 | 27118257 | ||
| Pubmed | 8.80e-05 | 5 | 104 | 2 | 12121999 | ||
| Pubmed | Development, composition, and structural arrangements of the ciliary zonule of the mouse. | 8.80e-05 | 5 | 104 | 2 | 23493297 | |
| Interaction | IGFL3 interactions | 9.02e-08 | 75 | 100 | 7 | int:IGFL3 | |
| Interaction | NTN5 interactions | 1.07e-07 | 24 | 100 | 5 | int:NTN5 | |
| Interaction | ZFP41 interactions | 3.79e-07 | 57 | 100 | 6 | int:ZFP41 | |
| Cytoband | Ensembl 112 genes in cytogenetic band chr17q12 | TBC1D3E TBC1D3 TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B TBC1D3I TBC1D3G TBC1D3K TBC1D3F | 4.98e-14 | 149 | 104 | 11 | chr17q12 |
| Cytoband | 17q12 | 3.27e-06 | 99 | 104 | 5 | 17q12 | |
| Cytoband | 2q35 | 7.88e-04 | 79 | 104 | 3 | 2q35 | |
| GeneFamily | Low density lipoprotein receptors | 1.12e-05 | 13 | 63 | 3 | 634 | |
| GeneFamily | Aminopeptidases|CD molecules | 1.57e-03 | 17 | 63 | 2 | 104 | |
| GeneFamily | Immunoglobulin like domain containing|Semaphorins | 2.18e-03 | 20 | 63 | 2 | 736 | |
| CoexpressionAtlas | Mesoderm Day 15_vs_Mesoderm Day 30-Confounder_removed-fold2.0_adjp0.05 | TBC1D3 TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B TBC1D3G TBC1D3K TBC1D3F | 4.45e-10 | 90 | 101 | 9 | PCBC_ratio_MESO-15_vs_MESO-30_cfr-2X-p05 |
| CoexpressionAtlas | Mesoderm Day 5-reprogram_OSKM-L_vs_Mesoderm Day 5-reprogram_NA-Confounder_removed-fold2.0_adjp0.05 | TBC1D3 TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B FBN2 TBC1D3G AGRN FBN3 TBC1D3K TBC1D3F | 9.55e-09 | 281 | 101 | 12 | PCBC_ratio_MESO-5_from-OSKM-L_vs_MESO-5_from-ESC_cfr-2X-p05 |
| CoexpressionAtlas | Mesoderm Day 5-method_mRNA_vs_Mesoderm Day 5-method_NA-Confounder_removed-fold2.0_adjp0.05 | TBC1D3 TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B FBN2 TBC1D3G AGRN FBN3 TBC1D3K TBC1D3F | 9.55e-09 | 281 | 101 | 12 | PCBC_ratio_MESO-5_from-mRNA_vs_MESO-5_from-ESC_cfr-2X-p05 |
| CoexpressionAtlas | Endoderm Differentiated Cells-method_mRNA_vs_Endoderm Differentiated Cells-method_NA-Confounder_removed-fold2.0_adjp0.05 | TBC1D3 TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B VENTX TBC1D3G TBC1D3K TBC1D3F | 7.25e-08 | 213 | 101 | 10 | PCBC_ratio_DE_from-mRNA_vs_DE_from-ESC_cfr-2X-p05 |
| CoexpressionAtlas | Endoderm Differentiated Cells-reprogram_OSKM-L_vs_Endoderm Differentiated Cells-reprogram_NA-Confounder_removed-fold2.0_adjp0.05 | TBC1D3 TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B VENTX TBC1D3G TBC1D3K TBC1D3F | 7.25e-08 | 213 | 101 | 10 | PCBC_ratio_DE_from-OSKM-L_vs_DE_from-ESC_cfr-2X-p05 |
| CoexpressionAtlas | DE cord blood_vs_DE blastocyst-Confounder_removed-fold2.0_adjp0.05 | TBC1D3 TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B VENTX TBC1D3G TBC1D3K TBC1D3F | 2.38e-07 | 242 | 101 | 10 | PCBC_ratio_DE cord blood_vs_DE blastocyst_cfr-2X-p05 |
| CoexpressionAtlas | Mesoderm Day 5_vs_Pluripotent Stem Cells-Confounder_removed-fold2.0_adjp0.05 | ZDHHC2 SEMA6C TBC1D3 TBC1D3H TBC1D3L TBC1D3D TRO WDR27 TBC1D3C TBC1D3B VENTX EFNA2 FBN2 TBC1D3G AGRN FBN3 TBC1D3K TBC1D3F RAB11FIP3 | 1.84e-06 | 1153 | 101 | 19 | PCBC_ratio_MESO-5_vs_SC_cfr-2X-p05 |
| CoexpressionAtlas | Ectoderm Differentiated Cells_vs_Pluripotent Stem Cells-Confounder_removed-fold2.0_adjp0.05 | SEMA6C TBC1D3 TBC1D3H TBC1D3L TBC1D3D WNT1 TRO WDR27 TBC1D3C TBC1D3B EFNA2 FBN1 FBN2 PKD1 TBC1D3G AGRN FBN3 NOTCH2 TBC1D3K TBC1D3F | 1.61e-05 | 1466 | 101 | 20 | PCBC_ratio_ECTO_vs_SC_cfr-2X-p05 |
| CoexpressionAtlas | Mesoderm Day 5_vs_Endoderm Differentiated Cells-Confounder_removed-fold2.0_adjp0.05 | TBC1D3 TBC1D3H TBC1D3L TBC1D3D TBC1D3C TBC1D3B TBC1D3G TBC1D3K TBC1D3F | 2.22e-05 | 320 | 101 | 9 | PCBC_ratio_MESO-5_vs_DE_cfr-2X-p05 |
| CoexpressionAtlas | DevelopingLowerUrinaryTract_e14.5_ urethra_emap-30892_k-means-cluster#5_top-relative-expression-ranked_500 | 7.90e-05 | 149 | 101 | 6 | gudmap_developingLowerUrinaryTract_e14.5_ urethra_500_k5 | |
| CoexpressionAtlas | Mesoderm Day 15_vs_Mesoderm Day 5-Confounder_removed-fold2.0_adjp0.05 | TBC1D3 TBC1D3H TBC1D3L TBC1D3D ICAM3 TBC1D3C TBC1D3B FBN1 SLC10A1 CHPT1 LRP4 TBC1D3G MVK TBC1D3K TBC1D3F | 1.27e-04 | 1049 | 101 | 15 | PCBC_ratio_MESO-15_vs_MESO-5_cfr-2X-p05 |
| Disease | connective tissue disease (implicated_via_orthology) | 2.93e-08 | 3 | 92 | 3 | DOID:65 (implicated_via_orthology) | |
| Disease | scoliosis (is_implicated_in) | 5.75e-05 | 4 | 92 | 2 | DOID:0060249 (is_implicated_in) | |
| Disease | autosomal dominant polycystic kidney disease (is_implicated_in) | 5.75e-05 | 4 | 92 | 2 | DOID:898 (is_implicated_in) | |
| Disease | insomnia, insomnia measurement | 5.75e-05 | 4 | 92 | 2 | EFO_0004698, EFO_0007876 | |
| Disease | polycystic liver disease (implicated_via_orthology) | 2.00e-04 | 7 | 92 | 2 | DOID:0050770 (implicated_via_orthology) | |
| Disease | Familial thoracic aortic aneurysm and aortic dissection | 6.14e-04 | 53 | 92 | 3 | C4707243 | |
| Disease | Connective Tissue Diseases | 7.33e-04 | 13 | 92 | 2 | C0009782 | |
| Disease | autosomal dominant polycystic kidney disease (implicated_via_orthology) | 8.54e-04 | 14 | 92 | 2 | DOID:898 (implicated_via_orthology) | |
| Disease | hip bone size | 1.11e-03 | 65 | 92 | 3 | EFO_0004844 | |
| Disease | Myasthenic Syndromes, Congenital, Slow Channel | 1.12e-03 | 16 | 92 | 2 | C0751885 | |
| Disease | autosomal recessive polycystic kidney disease (implicated_via_orthology) | 1.12e-03 | 16 | 92 | 2 | DOID:0110861 (implicated_via_orthology) | |
| Disease | Congenital Myasthenic Syndromes, Postsynaptic | 1.27e-03 | 17 | 92 | 2 | C0751883 | |
| Disease | cancer (implicated_via_orthology) | 1.54e-03 | 268 | 92 | 5 | DOID:162 (implicated_via_orthology) | |
| Disease | Congenital Myasthenic Syndromes, Presynaptic | 1.59e-03 | 19 | 92 | 2 | C0751884 | |
| Disease | CCL4 measurement | 1.76e-03 | 20 | 92 | 2 | EFO_0004751 | |
| Disease | rheumatoid arthritis, anti-citrullinated protein antibody seropositivity, rheumatoid factor seropositivity measurement | 2.00e-03 | 170 | 92 | 4 | EFO_0000685, EFO_0007791, EFO_0007837 | |
| Disease | leptin measurement | 2.10e-03 | 81 | 92 | 3 | EFO_0005000 | |
| Disease | Myasthenic Syndromes, Congenital | 2.54e-03 | 24 | 92 | 2 | C0751882 | |
| Disease | systemic scleroderma (is_implicated_in) | 2.54e-03 | 24 | 92 | 2 | DOID:418 (is_implicated_in) | |
| Disease | Crohn's disease | 2.60e-03 | 441 | 92 | 6 | EFO_0000384 | |
| Disease | mental development measurement | 2.75e-03 | 25 | 92 | 2 | EFO_0008230 |
| Peptide | Gene | Start | Entry |
|---|---|---|---|
| CSSEPCGFSSNGLIE | 351 | Q13569 | |
| PLCEFSSSPCSQGAR | 541 | Q9BYV9 | |
| LLQGTFSGPSSCPLC | 301 | Q6ZSZ5 | |
| LSAGAIENACLPCSG | 1246 | O94986 | |
| CALQALIDSCAGPGS | 281 | Q9ULA0 | |
| GCTECGARFSQPSAL | 436 | Q9H116 | |
| RSADGLTASCLCPAT | 261 | O00468 | |
| GPLCDSLCFNTQGSF | 436 | Q9NPY3 | |
| ATLCCSFSPEPGFSL | 46 | Q5ZPR3 | |
| GATPLFNACCSGSAA | 131 | Q8WXH4 | |
| SFIAGGCATFLCQPL | 206 | Q9UBX3 | |
| LFGTCTNSPGSFQCL | 1981 | Q75N90 | |
| CNLRLPGSSDCAASA | 1186 | P78312 | |
| LASSCAGACGTSFPD | 26 | Q6HA08 | |
| QAFCTFGSRLVSPGC | 411 | Q5T6C5 | |
| CILGSAEGTLCASPN | 451 | Q5T481 | |
| LCNGQLGCSDPAFLT | 406 | O75154 | |
| FCDLFPLLGLSCSST | 191 | Q6IF36 | |
| DILCGDSSGALFPLC | 776 | Q9UN71 | |
| FLCAPLTGATSDCLG | 101 | Q14728 | |
| NTFSCLCLPGFTGDK | 931 | Q04721 | |
| INSFSCLCPVGFTGS | 1006 | Q04721 | |
| SVLGRPTCSCALGFT | 4266 | Q9NZR2 | |
| GLAFPTGCSLNNCAA | 216 | P50579 | |
| SRTAAGSCPECQGSL | 981 | Q96JA1 | |
| GQPSGSLDSECASIC | 36 | A8MXD5 | |
| LSCNKLTTLPSDFCG | 46 | Q96AG4 | |
| GIFTCTPSAGLSFCD | 666 | Q5VTL7 | |
| SLSSGCPAGCRLSFN | 186 | A8MQB3 | |
| EDNGGCSHLCLLSPS | 301 | O75197 | |
| CGSSCFQSPGNLVTL | 31 | Q5VYM1 | |
| STQCLLCSSPLFKGG | 746 | Q12766 | |
| GTCRPFAGSLADSCL | 16 | A8MUP2 | |
| LRGPESCSLGCAQAT | 2111 | Q7Z7M0 | |
| RLACVLGTPCFSSGQ | 131 | Q6ZWI9 | |
| LSVCFPGCLLTSGEA | 11 | Q14344 | |
| SSNGFQPCLALLCSP | 376 | Q8N594 | |
| LCGDSSGALFPLCNS | 776 | Q9Y5G0 | |
| LCSFLLGLGDSCFNT | 356 | O43934 | |
| CSEPLIELCSSGASG | 166 | Q99755 | |
| GGSLFVNCSTDCPSS | 46 | P32942 | |
| GTFLGLCSLLTGCES | 216 | Q9H999 | |
| CGCSPGGNLSNVFSL | 96 | Q14973 | |
| FLLLNSCPGGCSDTS | 61 | Q5W5W9 | |
| FSECGGQLFSPLCLS | 401 | Q7Z4Q2 | |
| GPSTSVLFLFCCLGG | 6 | Q6EBC2 | |
| PGTAADLSRCQGCAS | 11 | Q9Y2F5 | |
| ASSCGCTFQGLQLAP | 796 | Q9Y6R7 | |
| FALSGESCLPLASCG | 1176 | Q9Y6R7 | |
| FCGLLSSPTGPLSSC | 2661 | Q9Y6R7 | |
| FDLCLGGGNLSILCS | 3891 | Q9Y6R7 | |
| FKCLCPEGFSLSSSG | 2036 | P35555 | |
| LCFSLTCPLGSGSPE | 101 | O95931 | |
| FNACSQGSPSCAELL | 141 | Q8WWX0 | |
| LCLFGAALCLTGSQA | 11 | Q6UWN5 | |
| TSNNSCSSPGGCRLF | 186 | O43921 | |
| TTDADCLGGICLPSS | 31 | Q8IUC1 | |
| SCSPGTCQNLEGSFR | 2026 | P35556 | |
| TPGSFSCECQRGFSL | 2591 | P35556 | |
| CLGSTTSCAFPGLIS | 546 | Q6UWX4 | |
| SGLAACGACVFTNPL | 6 | Q3KQZ1 | |
| DSLTLCSGACPKASS | 241 | P0C7I6 | |
| INLFGNPLTCSCDLS | 306 | Q8WUT4 | |
| LCGAAQPSSASFACL | 231 | P98161 | |
| QFVLAPSCCSLDSAG | 581 | Q7Z6I6 | |
| SRSCACSEPNILTGG | 181 | Q5HYA8 | |
| CSEPNILTGGLCFSS | 186 | Q5HYA8 | |
| CTSAGCTSSEPFLGQ | 3661 | O75445 | |
| PSCLFSGDLLFLSGC | 246 | Q8N490 | |
| AFPCCLSGFNISEGL | 1631 | O60522 | |
| HSLCFSPDGSQLFCG | 281 | Q9BUR4 | |
| SRALCSPSQLSCGSG | 2461 | A2VEC9 | |
| SPSQLSCGSGECLSA | 2466 | A2VEC9 | |
| GTEILLPCTFSSCFG | 46 | Q8IWT1 | |
| DALLCGFSTDSGQCP | 311 | Q15858 | |
| SGPCLCGLHLESSQF | 531 | B9A6J9 | |
| FPEPCANGGTCLSLS | 31 | Q99466 | |
| PGSTCIDRVGSFSCL | 366 | Q99466 | |
| FLCGSISGTCSTLLF | 31 | Q96DW6 | |
| TNSCSPLGELFDHGC | 121 | Q8WUD6 | |
| SGPCLCGLHLESSQF | 531 | A6NDS4 | |
| SGPCLCGLHLESSQF | 531 | P0C7X1 | |
| FCLASILSSGPQNCA | 56 | Q12933 | |
| GAFSGPCASACLLFL | 236 | Q7RTY3 | |
| QLACLSCGLSKAPSS | 1056 | Q15111 | |
| NLGLSACKGACPSSA | 571 | Q9H0M4 | |
| CGSRQLPSSVGLACF | 101 | Q8N377 | |
| NLCFGGPPSTSACFS | 1166 | Q12816 | |
| SGPCLCGLHLESSQF | 531 | A6NER0 | |
| TSCGFDCLETSIGAP | 361 | Q03426 | |
| CLPGDSCSSSDSLIF | 311 | Q9H2V7 | |
| LLACGTNSFSPVCRS | 136 | Q9H3T2 | |
| SGPCLCGLHLESSQF | 531 | A0A087X179 | |
| CEVCAASFRSGPGLS | 2446 | Q96JG9 | |
| AGRACNSSSPALDGC | 311 | P04628 | |
| LLACGTGAFQPTCAL | 131 | Q9NS98 | |
| SGPCLCGLHLESSQF | 531 | A0A087WVF3 | |
| SLGDGCSFPTCLVNQ | 286 | Q9UIJ5 | |
| RSCLTGNPFGTSACL | 261 | Q9NVR7 | |
| FLSDCTVGGTCLPNA | 116 | Q9C0G0 | |
| DLSLIPNSACGCLSS | 301 | A2RRH5 | |
| CLFTLSLDGSGPLTS | 316 | Q8NA23 | |
| TGLAAPSLDTTGCCN | 701 | Q9H6R7 | |
| SGPCLCGLHLESSQF | 531 | Q6DHY5 | |
| SGPCLCGLHLESSQF | 531 | Q8IZP1 | |
| CSGCSFLAKTPEGLS | 111 | Q9H4I2 | |
| LACSPNGASFVCSAA | 501 | A4D1P6 | |
| SGPCLCGLHLESSQF | 531 | A0A087X1G2 | |
| EALASAGASCCGQPL | 211 | O95231 | |
| SGPCLCGLHLESSQF | 531 | A0A087WXS9 | |
| SGPCLCGLHLESSQF | 531 | Q6IPX1 | |
| FRCGSCDGSFPQLAS | 386 | Q5EBL2 | |
| SLASCLALGSGLTAC | 276 | Q2I0M4 | |
| FSCTCPTGINLLSDG | 1026 | O75096 |