| Category | Name | IntersectionWithQuery | PValue | GenesInTerm | GenesInQuery | GenesInTermInQuery | ID |
|---|---|---|---|---|---|---|---|
| GeneOntologyMolecularFunction | ABC-type transporter activity | 1.83e-04 | 49 | 45 | 3 | GO:0140359 | |
| GeneOntologyMolecularFunction | extracellular matrix constituent conferring elasticity | 3.23e-04 | 12 | 45 | 2 | GO:0030023 | |
| GeneOntologyMolecularFunction | structural molecule activity conferring elasticity | 4.44e-04 | 14 | 45 | 2 | GO:0097493 | |
| GeneOntologyBiologicalProcess | sequestering of TGFbeta in extracellular matrix | 2.78e-05 | 4 | 45 | 2 | GO:0035583 | |
| HumanPheno | Abnormal upper to lower segment ratio | 2.10e-05 | 3 | 14 | 2 | HP:0012772 | |
| Domain | FBN | 1.70e-05 | 3 | 45 | 2 | IPR011398 | |
| Domain | TB | 1.18e-04 | 7 | 45 | 2 | PF00683 | |
| Domain | ABC_transporter_CS | 1.40e-04 | 42 | 45 | 3 | IPR017871 | |
| Domain | - | 1.57e-04 | 8 | 45 | 2 | 3.90.290.10 | |
| Domain | TB | 2.02e-04 | 9 | 45 | 2 | PS51364 | |
| Domain | TB_dom | 2.02e-04 | 9 | 45 | 2 | IPR017878 | |
| Domain | ABC_tran | 2.10e-04 | 48 | 45 | 3 | PF00005 | |
| Domain | ABC_TRANSPORTER_2 | 2.10e-04 | 48 | 45 | 3 | PS50893 | |
| Domain | ABC_TRANSPORTER_1 | 2.23e-04 | 49 | 45 | 3 | PS00211 | |
| Domain | ABC_transporter-like | 2.37e-04 | 50 | 45 | 3 | IPR003439 | |
| Domain | EGF | 2.45e-04 | 235 | 45 | 5 | SM00181 | |
| Domain | ABC_A | 3.69e-04 | 12 | 45 | 2 | IPR026082 | |
| Domain | Growth_fac_rcpt_ | 5.35e-04 | 156 | 45 | 4 | IPR009030 | |
| Domain | VWD | 6.67e-04 | 16 | 45 | 2 | SM00216 | |
| Domain | VWF_type-D | 6.67e-04 | 16 | 45 | 2 | IPR001846 | |
| Domain | VWFD | 6.67e-04 | 16 | 45 | 2 | PS51233 | |
| Domain | VWD | 6.67e-04 | 16 | 45 | 2 | PF00094 | |
| Domain | PROTEIN_KINASE_TYR | 1.65e-03 | 97 | 45 | 3 | PS00109 | |
| Domain | Tyr_kinase_AS | 1.65e-03 | 97 | 45 | 3 | IPR008266 | |
| Domain | cEGF | 1.78e-03 | 26 | 45 | 2 | IPR026823 | |
| Domain | cEGF | 1.78e-03 | 26 | 45 | 2 | PF12662 | |
| Domain | Sugar_transporter_CS | 2.69e-03 | 32 | 45 | 2 | IPR005829 | |
| Domain | Kringle-like | 2.69e-03 | 32 | 45 | 2 | IPR013806 | |
| Domain | EGF-like_dom | 2.99e-03 | 249 | 45 | 4 | IPR000742 | |
| Domain | EGF-like_CS | 3.54e-03 | 261 | 45 | 4 | IPR013032 | |
| Domain | EGF_2 | 3.74e-03 | 265 | 45 | 4 | PS01186 | |
| Domain | AAA+_ATPase | 5.03e-03 | 144 | 45 | 3 | IPR003593 | |
| Domain | AAA | 5.03e-03 | 144 | 45 | 3 | SM00382 | |
| Pubmed | 1.69e-07 | 9 | 45 | 3 | 26122848 | ||
| Pubmed | 1.64e-06 | 2 | 45 | 2 | 12399449 | ||
| Pubmed | 1.64e-06 | 2 | 45 | 2 | 21851253 | ||
| Pubmed | 1.64e-06 | 2 | 45 | 2 | 12429739 | ||
| Pubmed | Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis. | 1.64e-06 | 2 | 45 | 2 | 24833718 | |
| Pubmed | 1.64e-06 | 2 | 45 | 2 | 30213786 | ||
| Pubmed | New Evidence Supporting the Role of FBN1 in the Development of Adolescent Idiopathic Scoliosis. | 1.64e-06 | 2 | 45 | 2 | 30044367 | |
| Pubmed | Material and mechanical properties of bones deficient for fibrillin-1 or fibrillin-2 microfibrils. | 1.64e-06 | 2 | 45 | 2 | 21440062 | |
| Pubmed | 1.64e-06 | 2 | 45 | 2 | 15131124 | ||
| Pubmed | 1.64e-06 | 2 | 45 | 2 | 24265020 | ||
| Pubmed | Fibrillin-1 and fibrillin-2 in human embryonic and early fetal development. | 1.64e-06 | 2 | 45 | 2 | 12524050 | |
| Pubmed | 1.64e-06 | 2 | 45 | 2 | 20529844 | ||
| Pubmed | Immunohistochemical expression of fibrillin-1 and fibrillin-2 during tooth development. | 1.64e-06 | 2 | 45 | 2 | 25524144 | |
| Pubmed | Microfibril structure masks fibrillin-2 in postnatal tissues. | 1.64e-06 | 2 | 45 | 2 | 20404337 | |
| Pubmed | 1.64e-06 | 2 | 45 | 2 | 23133647 | ||
| Pubmed | Fibrillln mutations in Marfan syndrome and related phenotypes. | 1.64e-06 | 2 | 45 | 2 | 8791520 | |
| Pubmed | 1.64e-06 | 2 | 45 | 2 | 8120105 | ||
| Pubmed | 1.64e-06 | 2 | 45 | 2 | 35419902 | ||
| Pubmed | Fibrillin genes map to regions of conserved mouse/human synteny on mouse chromosomes 2 and 18. | 1.64e-06 | 2 | 45 | 2 | 8307578 | |
| Pubmed | Fibrillins 1 and 2 perform partially overlapping functions during aortic development. | 1.64e-06 | 2 | 45 | 2 | 16407178 | |
| Pubmed | Fibrillin assembly: dimer formation mediated by amino-terminal sequences. | 1.64e-06 | 2 | 45 | 2 | 10504303 | |
| Pubmed | Linkage of Marfan syndrome and a phenotypically related disorder to two different fibrillin genes. | 1.64e-06 | 2 | 45 | 2 | 1852206 | |
| Pubmed | 1.64e-06 | 2 | 45 | 2 | 10359653 | ||
| Pubmed | Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. | 1.64e-06 | 2 | 45 | 2 | 7744963 | |
| Pubmed | 1.64e-06 | 2 | 45 | 2 | 26408953 | ||
| Pubmed | Arg-Gly-Asp-containing domains of fibrillins-1 and -2 distinctly regulate lung fibroblast migration. | 1.64e-06 | 2 | 45 | 2 | 18006876 | |
| Pubmed | 4.91e-06 | 3 | 45 | 2 | 10825173 | ||
| Pubmed | 4.91e-06 | 3 | 45 | 2 | 30201140 | ||
| Pubmed | 4.91e-06 | 3 | 45 | 2 | 10449920 | ||
| Pubmed | 4.91e-06 | 3 | 45 | 2 | 20855508 | ||
| Pubmed | 9.81e-06 | 4 | 45 | 2 | 12429738 | ||
| Pubmed | Human eye development is characterized by coordinated expression of fibrillin isoforms. | 9.81e-06 | 4 | 45 | 2 | 25406291 | |
| Pubmed | 9.81e-06 | 4 | 45 | 2 | 20729550 | ||
| Pubmed | Heparin/heparan sulfate controls fibrillin-1, -2 and -3 self-interactions in microfibril assembly. | 9.81e-06 | 4 | 45 | 2 | 25034023 | |
| Pubmed | 9.81e-06 | 4 | 45 | 2 | 16835936 | ||
| Pubmed | 1.63e-05 | 5 | 45 | 2 | 26601954 | ||
| Pubmed | 1.63e-05 | 5 | 45 | 2 | 17255108 | ||
| Pubmed | 1.63e-05 | 5 | 45 | 2 | 34411563 | ||
| Pubmed | 1.63e-05 | 5 | 45 | 2 | 12590922 | ||
| Pubmed | Development, composition, and structural arrangements of the ciliary zonule of the mouse. | 1.63e-05 | 5 | 45 | 2 | 23493297 | |
| Pubmed | 2.45e-05 | 6 | 45 | 2 | 7873879 | ||
| Pubmed | Regulation of limb patterning by extracellular microfibrils. | 3.42e-05 | 7 | 45 | 2 | 11470817 | |
| Pubmed | Putative functions of extracellular matrix glycoproteins in secondary palate morphogenesis. | 4.56e-05 | 8 | 45 | 2 | 23055981 | |
| Pubmed | Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway. | 4.56e-05 | 8 | 45 | 2 | 31201465 | |
| Pubmed | Targeting of bone morphogenetic protein growth factor complexes to fibrillin. | 4.56e-05 | 8 | 45 | 2 | 18339631 | |
| Pubmed | 5.86e-05 | 9 | 45 | 2 | 12122015 | ||
| Pubmed | 5.86e-05 | 9 | 45 | 2 | 38844137 | ||
| Pubmed | 7.32e-05 | 10 | 45 | 2 | 30738849 | ||
| Pubmed | The human ATP-binding cassette (ABC) transporter superfamily. | 7.32e-05 | 10 | 45 | 2 | 11435397 | |
| Pubmed | 1.07e-04 | 12 | 45 | 2 | 26405179 | ||
| Pubmed | 1.07e-04 | 12 | 45 | 2 | 36779913 | ||
| Pubmed | 1.27e-04 | 13 | 45 | 2 | 21574244 | ||
| Pubmed | Fv2 encodes a truncated form of the Stk receptor tyrosine kinase. | 1.27e-04 | 13 | 45 | 2 | 10508511 | |
| Pubmed | A Role for Mitochondrial Translation in Promotion of Viability in K-Ras Mutant Cells. | 2.04e-04 | 419 | 45 | 5 | 28700943 | |
| Pubmed | 2.20e-04 | 17 | 45 | 2 | 27779093 | ||
| Pubmed | Proteolysis of fibrillin-2 microfibrils is essential for normal skeletal development. | 2.47e-04 | 18 | 45 | 2 | 35503090 | |
| Pubmed | ADAMTS18-fibronectin interaction regulates the morphology of liver sinusoidal endothelial cells. | 2.47e-04 | 18 | 45 | 2 | 39040056 | |
| Pubmed | 3.72e-04 | 22 | 45 | 2 | 8894702 | ||
| Pubmed | Adamts18 modulates the development of the aortic arch and common carotid artery. | 5.22e-04 | 26 | 45 | 2 | 34189436 | |
| Pubmed | ADAMTS18 Deficiency Leads to Pulmonary Hypoplasia and Bronchial Microfibril Accumulation. | 6.96e-04 | 30 | 45 | 2 | 32882513 | |
| Pubmed | 6.96e-04 | 30 | 45 | 2 | 20301299 | ||
| Pubmed | 7.43e-04 | 31 | 45 | 2 | 25762570 | ||
| Pubmed | 9.48e-04 | 35 | 45 | 2 | 10984455 | ||
| Pubmed | 9.48e-04 | 35 | 45 | 2 | 25977363 | ||
| Pubmed | 1.00e-03 | 36 | 45 | 2 | 35167946 | ||
| Pubmed | Adamts18 Deficiency Causes Spontaneous SMG Fibrogenesis in Adult Mice. | 1.06e-03 | 37 | 45 | 2 | 34323105 | |
| Pubmed | The von Hippel-Lindau Cullin-RING E3 ubiquitin ligase regulates APOBEC3 cytidine deaminases. | 1.24e-03 | 40 | 45 | 2 | 34004371 | |
| Pubmed | 1.24e-03 | 40 | 45 | 2 | 30578393 | ||
| GeneFamily | Non-clustered protocadherins | 1.62e-04 | 12 | 29 | 2 | 21 | |
| GeneFamily | ATP binding cassette subfamily A | 2.23e-04 | 14 | 29 | 2 | 805 | |
| ToppCell | facs-Thymus-Thymus_Epithelium-18m-Lymphocytic|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation | 1.16e-06 | 184 | 45 | 5 | ea7a7e2bac46d4d2c31a5d576b38a032b5335062 | |
| ToppCell | facs-Thymus-Thymus_Epithelium-18m-Lymphocytic-thymocyte|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation | 1.16e-06 | 184 | 45 | 5 | 2cbed6462fea2622871bb7e49b0df3d984239281 | |
| ToppCell | facs-Thymus-Thymus_Epithelium-18m-Lymphocytic-proliferating_thymocyte;_DN_to_DP_transition,_dividing_(some_are_Cd8+/_Cd4+,_some_undergoing_VDJ_recombination)|Thymus / Spleen_Marrow_Thymus - method, tissue, subtissue, age, lineage, cell ontology and free annotation | 1.16e-06 | 184 | 45 | 5 | 2b19a8c5f823e00812908b23e66bb4e563278aff | |
| ToppCell | facs-Liver-Non-hepatocytes-3m-Endothelial-nan|Liver / Large_Intestine_Pancreas_Liver - method, tissue, subtissue, age, lineage, cell ontology and free annotation | 1.81e-05 | 155 | 45 | 4 | 8fdda4e3657ac56188ae88ed3caf145f4d9d1567 | |
| ToppCell | facs-Lung-Endomucin-24m-Lymphocytic-Natural_Killer_T_cell|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation | 2.00e-05 | 159 | 45 | 4 | 7619d0d49738dd08daf01b42664691a5323aa793 | |
| ToppCell | facs-Lung-Endomucin-24m-Lymphocytic-mature_NK_T_cell|Lung / Lung_Trachea - method, tissue, subtissue, age, lineage, cell ontology and free annotation | 2.00e-05 | 159 | 45 | 4 | 4000ed0d3b7d488722bcd0042fa2ff4405aaab82 | |
| ToppCell | facs-Lung-24m-Hematologic-lymphocytic-mature_NK_T_cell|24m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype | 2.37e-05 | 166 | 45 | 4 | 5e3b998d740b24f790fad37350d704ca0ea10b77 | |
| ToppCell | facs-Lung-24m-Hematologic-lymphocytic-mature_NK_T_cell-mature_NK_T_cell_l22|24m / method, tissue, age, lineage, sublineage, cell ontologies, cell type and subtype | 2.37e-05 | 166 | 45 | 4 | bcdaab49bde5beba750b76fdcc3781a3c12c4fff | |
| ToppCell | droplet-Fat-Scat-21m-Mesenchymal-nan|Fat / Fat_BAT_GAT_MAT_SCAT - method, tissue, subtissue, age, lineage, cell ontology and free annotation | 3.11e-05 | 178 | 45 | 4 | 5fc9f41609735b972a2cd0830182d13742cd5bf5 | |
| ToppCell | 10x5'v1-week_17-19-Myeloid_macrophage-stroma-monocytoid_macrophage|week_17-19 / cell types per 3 fetal stages;per 3',per 5' | 3.25e-05 | 180 | 45 | 4 | ba4c1fb55e8f1095bea6968417fefcf5f700926b | |
| ToppCell | Children_(3_yrs)-Immune-enucleated_erythrocyte-D032|Children_(3_yrs) / Lineage, Cell type, age group and donor | 3.39e-05 | 182 | 45 | 4 | 3fddadb2ff75013ec6eeb415872667a6bae1da2d | |
| Disease | connective tissue disease (implicated_via_orthology) | 6.51e-06 | 3 | 44 | 2 | DOID:65 (implicated_via_orthology) | |
| Disease | scoliosis (is_implicated_in) | 1.30e-05 | 4 | 44 | 2 | DOID:0060249 (is_implicated_in) | |
| Disease | Colorectal Carcinoma | 5.80e-04 | 702 | 44 | 6 | C0009402 | |
| Disease | Endogenous Hyperinsulinism | 6.90e-04 | 26 | 44 | 2 | C1257963 | |
| Disease | Exogenous Hyperinsulinism | 6.90e-04 | 26 | 44 | 2 | C1257964 | |
| Disease | Compensatory Hyperinsulinemia | 6.90e-04 | 26 | 44 | 2 | C1257965 | |
| Disease | Colorectal Neoplasms | 7.68e-04 | 277 | 44 | 4 | C0009404 | |
| Disease | Cleft palate, cleft lip | 7.89e-04 | 279 | 44 | 4 | EFO_0003959, HP_0000175 | |
| Disease | Hyperinsulinism | 8.01e-04 | 28 | 44 | 2 | C0020459 | |
| Disease | Uterine leiomyoma, breast carcinoma | 1.05e-03 | 32 | 44 | 2 | EFO_0000305, HP_0000131 | |
| Disease | ascending aortic diameter | 1.20e-03 | 140 | 44 | 3 | EFO_0021787 |
| Peptide | Gene | Start | Entry |
|---|---|---|---|
| PTAGMDPCSRHIVWN | 641 | Q8WWZ7 | |
| TMCPDVFRGPWGGSH | 226 | Q9BYV1 | |
| PSGAPRMHCSPDGEW | 241 | P21709 | |
| RMHCSPDGEWLVPVG | 246 | P21709 | |
| SFFEREHPGWVPGVC | 916 | P78363 | |
| MHCGAAFWGPITPQG | 976 | Q14692 | |
| WFIFHHVPTGPSVGM | 696 | Q8WUJ3 | |
| VLGHSDRCWMPQFPA | 946 | O14917 | |
| GSRHPPWARGCGMFT | 26 | Q8TD20 | |
| RWMHTFPVGPSGEAI | 616 | O75140 | |
| MHWGVGFASSRPCVV | 1 | Q5TGI0 | |
| PAWMFGDPHITTLDG | 4681 | Q99102 | |
| STFMPERWFPGSCHV | 256 | Q86WK9 | |
| GHVFTIEPMICEGGW | 321 | P53582 | |
| GPVHVLMSSCWEAEP | 451 | P42679 | |
| LDHMGCRPGEVCPWE | 1791 | Q6PRD1 | |
| DSHGPWCYTMDPRTP | 441 | Q2TV78 | |
| FMGCQEHVEPGPRWP | 556 | P51511 | |
| LCGEWPTMPHTIGCE | 246 | P28328 | |
| EAPLHMEGTSCPQGW | 1121 | Q96J66 | |
| FFNHGECTRVMWTPP | 196 | Q2PZI1 | |
| SPGMSVCWHPEETFK | 166 | Q8NFH4 | |
| ALGHSDRCWMPSFVP | 946 | Q9P2E7 | |
| DCVVTGQPMPSVRWF | 5146 | Q5VST9 | |
| WEAQVMVPGSRPCHG | 336 | Q5K4E3 | |
| GGHVEPWRTETFCPM | 1516 | Q9Y6R7 | |
| ATVGRAWGHPCEMCP | 211 | P35555 | |
| APAWHHFPPRCVDMG | 441 | O15169 | |
| ATIGRAWGHPCEMCP | 241 | P35556 | |
| VCAFWIPDSRGMPHV | 21 | Q13003 | |
| FLVGPDGVPVMHWFH | 186 | P59796 | |
| HPCFLRGMGDPVQSW | 326 | Q9Y6K5 | |
| FTHWNSDMPGRKPGC | 586 | P22897 | |
| APTGFHCLVWPDGEM | 76 | Q9NYQ3 | |
| WGMVCPAETPEGHAV | 506 | P30876 | |
| IPDFRGPHGVWTMEE | 61 | Q8N6T7 | |
| SGCRHPPGEMMRWAA | 331 | Q8NEG4 | |
| PRGPCWETMVGQEFV | 511 | Q8TDI8 | |
| GHGPEADVWSLGCVM | 236 | Q9H4B4 | |
| TTMETLGEHDPWYCP | 786 | Q13107 | |
| MKTFPEAGPHEGWSC | 86 | Q9UK11 | |
| PWIMGGEFPCQHSPE | 66 | Q9NYW8 | |
| LHSFCTPGMGPRTFW | 246 | Q86SX3 | |
| GPWMLEGEAPHQSCS | 126 | P51814 | |
| GPWEMVLVVHGFPSS | 61 | Q9BQ83 | |
| SLWGVPTVEDPHRMG | 1801 | Q9UPQ9 |