

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | melanin biosynthetic process (GO:0042438) | 6.83247900 |
| 2 | melanin metabolic process (GO:0006582) | 6.15242773 |
| 3 | secondary metabolite biosynthetic process (GO:0044550) | 5.29553904 |
| 4 | semaphorin-plexin signaling pathway (GO:0071526) | 3.48386162 |
| 5 | atrioventricular valve morphogenesis (GO:0003181) | 3.47265430 |
| 6 | mannose metabolic process (GO:0006013) | 3.44111324 |
| 7 | establishment of nucleus localization (GO:0040023) | 3.31532304 |
| 8 | cell migration involved in heart development (GO:0060973) | 3.21179580 |
| 9 | positive regulation of receptor recycling (GO:0001921) | 3.19464967 |
| 10 | axon extension involved in axon guidance (GO:0048846) | 3.14052485 |
| 11 | neuron projection extension involved in neuron projection guidance (GO:1902284) | 3.14052485 |
| 12 | regulation of NFAT protein import into nucleus (GO:0051532) | 3.09321686 |
| 13 | layer formation in cerebral cortex (GO:0021819) | 3.02096806 |
| 14 | cytoskeletal anchoring at plasma membrane (GO:0007016) | 3.00264052 |
| 15 | venous blood vessel morphogenesis (GO:0048845) | 2.97054830 |
| 16 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 2.96251308 |
| 17 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 2.94665487 |
| 18 | protein heterotrimerization (GO:0070208) | 2.92007961 |
| 19 | adherens junction assembly (GO:0034333) | 2.90357124 |
| 20 | negative regulation of cell size (GO:0045792) | 2.88826608 |
| 21 | peptidyl-lysine dimethylation (GO:0018027) | 2.85080680 |
| 22 | pre-miRNA processing (GO:0031054) | 2.84413003 |
| 23 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.83887429 |
| 24 | vascular endothelial growth factor signaling pathway (GO:0038084) | 2.77813722 |
| 25 | stress fiber assembly (GO:0043149) | 2.76474670 |
| 26 | protein localization to endosome (GO:0036010) | 2.75047343 |
| 27 | somatic stem cell division (GO:0048103) | 2.71617270 |
| 28 | negative regulation of cell killing (GO:0031342) | 2.69484701 |
| 29 | negative regulation of leukocyte mediated cytotoxicity (GO:0001911) | 2.69484701 |
| 30 | negative regulation of catenin import into nucleus (GO:0035414) | 2.69367083 |
| 31 | vascular endothelial growth factor receptor signaling pathway (GO:0048010) | 2.67763619 |
| 32 | positive regulation of myotube differentiation (GO:0010831) | 2.66174191 |
| 33 | positive regulation of histone deacetylation (GO:0031065) | 2.62549856 |
| 34 | substrate-dependent cell migration (GO:0006929) | 2.61683485 |
| 35 | insulin-like growth factor receptor signaling pathway (GO:0048009) | 2.61100892 |
| 36 | hippo signaling (GO:0035329) | 2.59709062 |
| 37 | sodium ion export (GO:0071436) | 2.57470320 |
| 38 | cell junction maintenance (GO:0034331) | 2.56414786 |
| 39 | plasma membrane repair (GO:0001778) | 2.56349289 |
| 40 | endothelial cell chemotaxis (GO:0035767) | 2.51441691 |
| 41 | dosage compensation (GO:0007549) | 2.51433685 |
| 42 | outer ear morphogenesis (GO:0042473) | 2.47441925 |
| 43 | chondroitin sulfate biosynthetic process (GO:0030206) | 2.47187458 |
| 44 | embryonic foregut morphogenesis (GO:0048617) | 2.45344075 |
| 45 | dermatan sulfate metabolic process (GO:0030205) | 2.45155108 |
| 46 | negative regulation of fatty acid transport (GO:2000192) | 2.44059810 |
| 47 | cell migration in hindbrain (GO:0021535) | 2.43484405 |
| 48 | regulation of ARF GTPase activity (GO:0032312) | 2.42984361 |
| 49 | apoptotic cell clearance (GO:0043277) | 2.42445798 |
| 50 | cortical actin cytoskeleton organization (GO:0030866) | 2.41544277 |
| 51 | regulation of extracellular matrix disassembly (GO:0010715) | 2.41492958 |
| 52 | basement membrane organization (GO:0071711) | 2.41173498 |
| 53 | heparan sulfate proteoglycan metabolic process (GO:0030201) | 2.40914769 |
| 54 | negative regulation of erythrocyte differentiation (GO:0045647) | 2.39835771 |
| 55 | establishment of apical/basal cell polarity (GO:0035089) | 2.38686630 |
| 56 | glucocorticoid receptor signaling pathway (GO:0042921) | 2.37561136 |
| 57 | NLS-bearing protein import into nucleus (GO:0006607) | 2.36562975 |
| 58 | apoptotic process involved in morphogenesis (GO:0060561) | 2.36182596 |
| 59 | outflow tract septum morphogenesis (GO:0003148) | 2.35957368 |
| 60 | histone H3-K9 demethylation (GO:0033169) | 2.35785923 |
| 61 | response to laminar fluid shear stress (GO:0034616) | 2.35273204 |
| 62 | response to fluid shear stress (GO:0034405) | 2.35252043 |
| 63 | cytoplasmic mRNA processing body assembly (GO:0033962) | 2.35240127 |
| 64 | anatomical structure regression (GO:0060033) | 2.35088601 |
| 65 | cell-substrate adherens junction assembly (GO:0007045) | 2.34725564 |
| 66 | focal adhesion assembly (GO:0048041) | 2.34725564 |
| 67 | tooth mineralization (GO:0034505) | 2.34032600 |
| 68 | collagen metabolic process (GO:0032963) | 2.33535981 |
| 69 | endodermal cell differentiation (GO:0035987) | 2.31689967 |
| 70 | developmental pigmentation (GO:0048066) | 2.30452319 |
| 71 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 2.30184625 |
| 72 | cellular response to vascular endothelial growth factor stimulus (GO:0035924) | 2.30114066 |
| 73 | skin morphogenesis (GO:0043589) | 2.29947132 |
| 74 | negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067) | 2.29156702 |
| 75 | chondrocyte proliferation (GO:0035988) | 2.28800817 |
| 76 | phagocytosis, recognition (GO:0006910) | 2.28377128 |
| 77 | heparan sulfate proteoglycan biosynthetic process (GO:0015012) | 2.28146157 |
| 78 | retina vasculature morphogenesis in camera-type eye (GO:0061299) | 2.28137652 |
| 79 | germ cell migration (GO:0008354) | 2.28025259 |
| 80 | positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr | 2.27483883 |
| 81 | negative regulation of granulocyte differentiation (GO:0030853) | 2.26389314 |
| 82 | cell-substrate junction assembly (GO:0007044) | 2.25329094 |
| 83 | negative regulation of mRNA splicing, via spliceosome (GO:0048025) | 2.25277413 |
| 84 | glial cell migration (GO:0008347) | 2.24465424 |
| 85 | collagen catabolic process (GO:0030574) | 2.24346398 |
| 86 | atrial septum morphogenesis (GO:0060413) | 2.24089497 |
| 87 | polarized epithelial cell differentiation (GO:0030859) | 2.23249798 |
| 88 | positive regulation of odontogenesis (GO:0042482) | 2.23058356 |
| 89 | establishment or maintenance of monopolar cell polarity (GO:0061339) | 2.22813946 |
| 90 | establishment of monopolar cell polarity (GO:0061162) | 2.22813946 |
| 91 | regulation of early endosome to late endosome transport (GO:2000641) | 2.22422820 |
| 92 | intracellular estrogen receptor signaling pathway (GO:0030520) | 2.22377360 |
| 93 | heart morphogenesis (GO:0003007) | 2.22256669 |
| 94 | lymph vessel development (GO:0001945) | 2.21972329 |
| 95 | bone trabecula formation (GO:0060346) | 2.21814722 |
| 96 | chondroitin sulfate catabolic process (GO:0030207) | 2.21781424 |
| 97 | cardiac myofibril assembly (GO:0055003) | 2.21598536 |
| 98 | negative regulation of smooth muscle cell migration (GO:0014912) | 2.20794770 |
| 99 | gastrulation with mouth forming second (GO:0001702) | 2.20615943 |
| 100 | paraxial mesoderm development (GO:0048339) | 2.20168474 |
| 101 | positive regulation of dendrite morphogenesis (GO:0050775) | 2.18714502 |
| 102 | protein targeting to plasma membrane (GO:0072661) | 2.18352477 |
| 103 | positive regulation of epithelial to mesenchymal transition (GO:0010718) | 2.17700805 |
| 104 | heterochromatin organization (GO:0070828) | 2.17689651 |
| 105 | endothelial cell morphogenesis (GO:0001886) | 2.16874840 |
| 106 | Wnt signaling pathway, planar cell polarity pathway (GO:0060071) | 2.16859839 |
| 107 | regulation of SMAD protein import into nucleus (GO:0060390) | 2.16642259 |
| 108 | cell migration involved in sprouting angiogenesis (GO:0002042) | 2.16588739 |
| 109 | extracellular matrix assembly (GO:0085029) | 2.16576502 |
| 110 | regulation of axon extension involved in axon guidance (GO:0048841) | 2.14771317 |
| 111 | adherens junction organization (GO:0034332) | 2.14490970 |
| 112 | positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:00360 | 2.14397484 |
| 113 | extracellular matrix disassembly (GO:0022617) | 2.13795589 |
| 114 | cell-cell junction maintenance (GO:0045217) | 2.13794587 |
| 115 | positive regulation of RNA splicing (GO:0033120) | 2.13460085 |
| 116 | convergent extension (GO:0060026) | 2.13424169 |
| 117 | dichotomous subdivision of an epithelial terminal unit (GO:0060600) | 2.13325143 |
| 118 | positive regulation of axon extension (GO:0045773) | 2.12252487 |
| 119 | myotube differentiation (GO:0014902) | 2.12177972 |
| 120 | endothelial tube morphogenesis (GO:0061154) | 2.12014501 |
| 121 | morphogenesis of an endothelium (GO:0003159) | 2.12014501 |
| 122 | heart valve morphogenesis (GO:0003179) | 2.11806611 |
| 123 | barbed-end actin filament capping (GO:0051016) | 2.11708661 |
| 124 | neural tube development (GO:0021915) | 2.11571003 |
| 125 | cardiac muscle cell proliferation (GO:0060038) | 2.11284091 |
| 126 | fibroblast migration (GO:0010761) | 2.11170462 |
| 127 | positive thymic T cell selection (GO:0045059) | 2.10961595 |
| 128 | regulation of translational fidelity (GO:0006450) | 2.10920642 |
| 129 | cerebellar Purkinje cell layer development (GO:0021680) | 2.10521779 |
| 130 | wound healing, spreading of epidermal cells (GO:0035313) | 2.10084121 |
| 131 | glomerular filtration (GO:0003094) | 2.09677698 |
| 132 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 2.09638277 |
| 133 | epithelial cell-cell adhesion (GO:0090136) | 2.09513153 |
| 134 | stress granule assembly (GO:0034063) | 2.09475837 |
| 135 | positive regulation of protein dephosphorylation (GO:0035307) | 2.08874629 |
| 136 | cellular response to monoamine stimulus (GO:0071868) | 2.08699870 |
| 137 | cellular response to catecholamine stimulus (GO:0071870) | 2.08699870 |
| 138 | Golgi transport vesicle coating (GO:0048200) | 2.08504613 |
| 139 | COPI coating of Golgi vesicle (GO:0048205) | 2.08504613 |
| 140 | protein-DNA complex disassembly (GO:0032986) | 2.08346186 |
| 141 | nucleosome disassembly (GO:0006337) | 2.08346186 |
| 142 | multicellular organismal macromolecule metabolic process (GO:0044259) | 2.08297430 |
| 143 | mitotic G1 DNA damage checkpoint (GO:0031571) | 2.08087898 |
| 144 | regulation of establishment of planar polarity (GO:0090175) | 2.07534542 |
| 145 | dermatan sulfate biosynthetic process (GO:0030208) | 2.07030643 |
| 146 | glomerular basement membrane development (GO:0032836) | 2.06998527 |
| 147 | negative regulation of chondrocyte differentiation (GO:0032331) | 2.06937568 |
| 148 | maternal placenta development (GO:0001893) | 2.06832755 |
| 149 | endocardial cushion morphogenesis (GO:0003203) | 2.06681720 |
| 150 | G-protein coupled acetylcholine receptor signaling pathway (GO:0007213) | 2.06648064 |
| 151 | glial cell proliferation (GO:0014009) | 2.06513957 |
| 152 | apoptotic process involved in development (GO:1902742) | 2.06479243 |
| 153 | receptor catabolic process (GO:0032801) | 2.06365285 |
| 154 | mRNA stabilization (GO:0048255) | 2.05825049 |
| 155 | RNA stabilization (GO:0043489) | 2.05825049 |
| 156 | epithelial cell differentiation involved in prostate gland development (GO:0060742) | 2.05054849 |
| 157 | collagen fibril organization (GO:0030199) | 2.04907588 |
| 158 | positive regulation of SMAD protein import into nucleus (GO:0060391) | 2.03974554 |
| 159 | syncytium formation by plasma membrane fusion (GO:0000768) | 2.03963959 |
| 160 | neural tube closure (GO:0001843) | 2.03661934 |
| 161 | positive regulation of blood vessel endothelial cell migration (GO:0043536) | 2.03604104 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 3.95466899 |
| 2 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 3.91565605 |
| 3 | MYC_22102868_ChIP-Seq_BL_Human | 3.21581369 |
| 4 | KDM2B_26808549_Chip-Seq_SUP-B15_Human | 3.04823738 |
| 5 | KDM2B_26808549_Chip-Seq_DND41_Human | 2.91794266 |
| 6 | EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 2.86218968 |
| 7 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 2.79268011 |
| 8 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.66576971 |
| 9 | TCF7_22412390_ChIP-Seq_EML_Mouse | 2.58917450 |
| 10 | EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 2.46340359 |
| 11 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 2.46154629 |
| 12 | KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 2.44052120 |
| 13 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 2.43520397 |
| 14 | ZFP281_27345836_Chip-Seq_ESCs_Mouse | 2.42646001 |
| 15 | VDR_21846776_ChIP-Seq_THP-1_Human | 2.36402029 |
| 16 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 2.36048843 |
| 17 | KDM2B_26808549_Chip-Seq_HPB-ALL_Human | 2.30417217 |
| 18 | KDM2B_26808549_Chip-Seq_K562_Human | 2.23742919 |
| 19 | KDM2B_26808549_Chip-Seq_JURKAT_Human | 2.19762021 |
| 20 | * DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 2.16818496 |
| 21 | LXR_22292898_ChIP-Seq_THP-1_Human | 2.07637744 |
| 22 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 2.00701643 |
| 23 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 1.87379760 |
| 24 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 1.83004013 |
| 25 | * RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.81717861 |
| 26 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.79446000 |
| 27 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.76584395 |
| 28 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.74880368 |
| 29 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.70887766 |
| 30 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.68077836 |
| 31 | EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 1.65660613 |
| 32 | STAT6_20620947_ChIP-Seq_CD4_POS_T_Human | 1.65192111 |
| 33 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 1.61267780 |
| 34 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.60299070 |
| 35 | UTX_26944678_Chip-Seq_JUKART_Human | 1.54063028 |
| 36 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.53842163 |
| 37 | RACK7_27058665_Chip-Seq_MCF-7_Human | 1.50722188 |
| 38 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.50473244 |
| 39 | CLOCK_20551151_ChIP-Seq_293T_Human | 1.50173033 |
| 40 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.48589396 |
| 41 | * UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.47022318 |
| 42 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 1.45727339 |
| 43 | * TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.45271800 |
| 44 | * TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.43670616 |
| 45 | VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human | 1.43110927 |
| 46 | SALL4_18804426_ChIP-ChIP_MESCs_Mouse | 1.42830479 |
| 47 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.42424657 |
| 48 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.42328250 |
| 49 | MAF_26560356_Chip-Seq_TH1_Human | 1.40489280 |
| 50 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.36382684 |
| 51 | * TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.35984810 |
| 52 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.34815444 |
| 53 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.34075462 |
| 54 | VDR_24763502_ChIP-Seq_THP-1_Human | 1.33905296 |
| 55 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.32921041 |
| 56 | * CTCF_27219007_Chip-Seq_Bcells_Human | 1.28042280 |
| 57 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 1.27155409 |
| 58 | SPI1_23127762_ChIP-Seq_K562_Human | 1.26316384 |
| 59 | CREB1_26743006_Chip-Seq_LNCaP_Human | 1.26095534 |
| 60 | ZIC3_20872845_ChIP-ChIP_MESCs_Mouse | 1.24890418 |
| 61 | TP53_22127205_ChIP-Seq_IMR90_Human | 1.24028725 |
| 62 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.21470653 |
| 63 | SMC1_22415368_ChIP-Seq_MEFs_Mouse | 1.20563333 |
| 64 | IKZF1_21737484_ChIP-ChIP_HCT116_Human | 1.20088292 |
| 65 | TET1_21490601_ChIP-Seq_MESCs_Mouse | 1.20079316 |
| 66 | ISL1_27105846_Chip-Seq_CPCs_Mouse | 1.19814799 |
| 67 | GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.19016103 |
| 68 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.18926350 |
| 69 | FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human | 1.18533200 |
| 70 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 1.18246731 |
| 71 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.18087414 |
| 72 | ATF3_27146783_Chip-Seq_COLON_Human | 1.17955921 |
| 73 | SMC3_22415368_ChIP-Seq_MEFs_Mouse | 1.16794210 |
| 74 | TFAP2A_17053090_ChIP-ChIP_MCF-7_Human | 1.14103028 |
| 75 | CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 1.13681994 |
| 76 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 1.13218519 |
| 77 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.13208413 |
| 78 | OLIG2_26023283_ChIP-Seq_AINV15_Mouse | 1.13087691 |
| 79 | RARB_27405468_Chip-Seq_BRAIN_Mouse | 1.12983666 |
| 80 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 1.12367628 |
| 81 | GATA1_19941827_ChIP-Seq_MEL_Mouse | 1.12093562 |
| 82 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.12061859 |
| 83 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.11815671 |
| 84 | E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human | 1.10840872 |
| 85 | SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.10495777 |
| 86 | WT1_25993318_ChIP-Seq_PODOCYTE_Human | 1.08449213 |
| 87 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.08231119 |
| 88 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.07908780 |
| 89 | MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human | 1.07206669 |
| 90 | FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human | 1.07157010 |
| 91 | NCOR1_26117541_ChIP-Seq_K562_Human | 1.06897901 |
| 92 | * TP53_23651856_ChIP-Seq_MEFs_Mouse | 1.06696231 |
| 93 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.06354543 |
| 94 | RING1B_27294783_Chip-Seq_NPCs_Mouse | 1.06302257 |
| 95 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.05693454 |
| 96 | TP53_20018659_ChIP-ChIP_R1E_Mouse | 1.05690256 |
| 97 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.03397625 |
| 98 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.03204473 |
| 99 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.03204473 |
| 100 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 1.03086339 |
| 101 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.02692296 |
| 102 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.02260574 |
| 103 | CTCF_27219007_Chip-Seq_ERYTHROID_Human | 1.02014941 |
| 104 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 1.00950609 |
| 105 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.00574107 |
| 106 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.00560467 |
| 107 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.00473525 |
| 108 | BCOR_27268052_Chip-Seq_Bcells_Human | 0.99974519 |
| 109 | RUNX1_20887958_ChIP-Seq_HPC-7_Mouse | 0.98969059 |
| 110 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 0.98621790 |
| 111 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 0.98621790 |
| 112 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 0.97575828 |
| 113 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 0.97188124 |
| 114 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 0.97176802 |
| 115 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 0.95816873 |
| 116 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 0.94892434 |
| 117 | SMC4_20622854_ChIP-Seq_HELA_Human | 0.94807875 |
| 118 | RUNX1_22412390_ChIP-Seq_EML_Mouse | 0.94279194 |
| 119 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 0.93843278 |
| 120 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 0.92920905 |
| 121 | P68_20966046_ChIP-Seq_HELA_Human | 0.92372682 |
| 122 | NANOG_18347094_ChIP-ChIP_MESCs_Mouse | 0.92352663 |
| 123 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 0.91619932 |
| 124 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 0.91460310 |
| 125 | * RING1B_27294783_Chip-Seq_ESCs_Mouse | 0.91095296 |
| 126 | MAF_26560356_Chip-Seq_TH2_Human | 0.89556484 |
| 127 | ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.89483139 |
| 128 | * BRD4_27068464_Chip-Seq_AML-cells_Mouse | 0.89194821 |
| 129 | * MITF_21258399_ChIP-Seq_MELANOMA_Human | 0.87536600 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0000372_irregular_coat_pigmentation | 4.35625253 |
| 2 | MP0005171_absent_coat_pigmentation | 3.40612730 |
| 3 | MP0003705_abnormal_hypodermis_morpholog | 3.38527027 |
| 4 | MP0005257_abnormal_intraocular_pressure | 2.96522338 |
| 5 | MP0005058_abnormal_lysosome_morphology | 2.95797461 |
| 6 | MP0008438_abnormal_cutaneous_collagen | 2.71433930 |
| 7 | MP0000569_abnormal_digit_pigmentation | 2.46409935 |
| 8 | MP0005623_abnormal_meninges_morphology | 2.43862210 |
| 9 | MP0000371_diluted_coat_color | 2.40895056 |
| 10 | MP0000733_abnormal_muscle_development | 2.24474144 |
| 11 | MP0005409_darkened_coat_color | 2.03235842 |
| 12 | MP0005076_abnormal_cell_differentiation | 2.00740453 |
| 13 | MP0010368_abnormal_lymphatic_system | 1.92150422 |
| 14 | MP0008961_abnormal_basal_metabolism | 1.87900475 |
| 15 | MP0010030_abnormal_orbit_morphology | 1.86778897 |
| 16 | MP0003279_aneurysm | 1.86215880 |
| 17 | MP0003122_maternal_imprinting | 1.83727592 |
| 18 | MP0009278_abnormal_bone_marrow | 1.81964732 |
| 19 | MP0009840_abnormal_foam_cell | 1.75540126 |
| 20 | MP0001849_ear_inflammation | 1.73204623 |
| 21 | MP0001348_abnormal_lacrimal_gland | 1.67317274 |
| 22 | MP0003878_abnormal_ear_physiology | 1.66597285 |
| 23 | MP0005377_hearing/vestibular/ear_phenot | 1.66597285 |
| 24 | MP0003172_abnormal_lysosome_physiology | 1.66023173 |
| 25 | MP0002653_abnormal_ependyma_morphology | 1.65282388 |
| 26 | MP0000003_abnormal_adipose_tissue | 1.63251666 |
| 27 | MP0003283_abnormal_digestive_organ | 1.60191995 |
| 28 | MP0002108_abnormal_muscle_morphology | 1.55998251 |
| 29 | MP0003385_abnormal_body_wall | 1.53005218 |
| 30 | MP0003091_abnormal_cell_migration | 1.52291126 |
| 31 | MP0003828_pulmonary_edema | 1.51882137 |
| 32 | MP0002254_reproductive_system_inflammat | 1.50894488 |
| 33 | MP0003566_abnormal_cell_adhesion | 1.50324906 |
| 34 | MP0004858_abnormal_nervous_system | 1.49478174 |
| 35 | MP0004272_abnormal_basement_membrane | 1.47589662 |
| 36 | MP0010352_gastrointestinal_tract_polyps | 1.45298692 |
| 37 | MP0002075_abnormal_coat/hair_pigmentati | 1.45227598 |
| 38 | MP0000537_abnormal_urethra_morphology | 1.44960859 |
| 39 | MP0003329_amyloid_beta_deposits | 1.44628950 |
| 40 | MP0000013_abnormal_adipose_tissue | 1.41757787 |
| 41 | MP0002089_abnormal_postnatal_growth/wei | 1.41705606 |
| 42 | MP0008260_abnormal_autophagy | 1.39466566 |
| 43 | MP0000534_abnormal_ureter_morphology | 1.39255098 |
| 44 | MP0000759_abnormal_skeletal_muscle | 1.34943309 |
| 45 | MP0003300_gastrointestinal_ulcer | 1.33103808 |
| 46 | MP0003303_peritoneal_inflammation | 1.32943236 |
| 47 | MP0006054_spinal_hemorrhage | 1.32159008 |
| 48 | MP0004808_abnormal_hematopoietic_stem | 1.31384190 |
| 49 | MP0002877_abnormal_melanocyte_morpholog | 1.30882195 |
| 50 | MP0002896_abnormal_bone_mineralization | 1.30664075 |
| 51 | MP0003115_abnormal_respiratory_system | 1.29352555 |
| 52 | MP0005248_abnormal_Harderian_gland | 1.28311104 |
| 53 | MP0004233_abnormal_muscle_weight | 1.28054486 |
| 54 | MP0004084_abnormal_cardiac_muscle | 1.27658158 |
| 55 | MP0009053_abnormal_anal_canal | 1.26230526 |
| 56 | MP0002933_joint_inflammation | 1.22242358 |
| 57 | MP0005023_abnormal_wound_healing | 1.21653796 |
| 58 | MP0001958_emphysema | 1.19380552 |
| 59 | MP0005595_abnormal_vascular_smooth | 1.18748783 |
| 60 | MP0005503_abnormal_tendon_morphology | 1.17970692 |
| 61 | MP0002060_abnormal_skin_morphology | 1.17403874 |
| 62 | MP0004197_abnormal_fetal_growth/weight/ | 1.16283397 |
| 63 | MP0003942_abnormal_urinary_system | 1.15827613 |
| 64 | MP0005375_adipose_tissue_phenotype | 1.15578925 |
| 65 | MP0000428_abnormal_craniofacial_morphol | 1.14946358 |
| 66 | MP0005390_skeleton_phenotype | 1.14219283 |
| 67 | MP0003436_decreased_susceptibility_to | 1.13938284 |
| 68 | MP0002998_abnormal_bone_remodeling | 1.13445058 |
| 69 | MP0004859_abnormal_synaptic_plasticity | 1.12968671 |
| 70 | MP0002925_abnormal_cardiovascular_devel | 1.10330488 |
| 71 | MP0005408_hypopigmentation | 1.07913160 |
| 72 | MP0001915_intracranial_hemorrhage | 1.07191760 |
| 73 | MP0005508_abnormal_skeleton_morphology | 1.06953219 |
| 74 | MP0000751_myopathy | 1.06861914 |
| 75 | MP0004130_abnormal_muscle_cell | 1.06836968 |
| 76 | MP0003121_genomic_imprinting | 1.06364425 |
| 77 | MP0001542_abnormal_bone_strength | 1.04871289 |
| 78 | MP0000767_abnormal_smooth_muscle | 1.04280608 |
| 79 | MP0001299_abnormal_eye_distance/ | 1.03977999 |
| 80 | MP0002932_abnormal_joint_morphology | 1.03020087 |
| 81 | MP0002084_abnormal_developmental_patter | 1.02389154 |
| 82 | MP0004510_myositis | 1.02381336 |
| 83 | MP0005174_abnormal_tail_pigmentation | 1.01387426 |
| 84 | MP0002938_white_spotting | 1.00860144 |
| 85 | MP0005275_abnormal_skin_tensile | 1.00523328 |
| 86 | MP0004036_abnormal_muscle_relaxation | 1.00233481 |
| 87 | MP0000749_muscle_degeneration | 0.99184488 |
| 88 | MP0005197_abnormal_uvea_morphology | 0.98890697 |
| 89 | MP0005451_abnormal_body_composition | 0.98530438 |
| 90 | MP0000747_muscle_weakness | 0.98053691 |
| 91 | MP0002295_abnormal_pulmonary_circulatio | 0.97324918 |
| 92 | MP0001324_abnormal_eye_pigmentation | 0.96451046 |
| 93 | MP0003935_abnormal_craniofacial_develop | 0.96242212 |
| 94 | MP0003191_abnormal_cellular_cholesterol | 0.96175717 |
| 95 | MP0000678_abnormal_parathyroid_gland | 0.95337793 |
| 96 | MP0002095_abnormal_skin_pigmentation | 0.94519232 |
| 97 | MP0003634_abnormal_glial_cell | 0.94454541 |
| 98 | MP0000015_abnormal_ear_pigmentation | 0.92948190 |
| 99 | MP0002092_abnormal_eye_morphology | 0.92588946 |
| 100 | MP0003567_abnormal_fetal_cardiomyocyte | 0.91871908 |
| 101 | MP0002396_abnormal_hematopoietic_system | 0.89117365 |
| 102 | MP0010630_abnormal_cardiac_muscle | 0.88821874 |
| 103 | MP0002697_abnormal_eye_size | 0.87289786 |
| 104 | MP0002085_abnormal_embryonic_tissue | 0.87250439 |
| 105 | MP0001533_abnormal_skeleton_physiology | 0.87151810 |
| 106 | MP0006138_congestive_heart_failure | 0.86454377 |
| 107 | MP0001186_pigmentation_phenotype | 0.85696481 |
| 108 | MP0003123_paternal_imprinting | 0.84473332 |
| 109 | MP0004087_abnormal_muscle_fiber | 0.84179320 |
| 110 | MP0010307_abnormal_tumor_latency | 0.83438237 |
| 111 | MP0003045_fibrosis | 0.83222954 |
| 112 | MP0003119_abnormal_digestive_system | 0.82577906 |
| 113 | MP0005369_muscle_phenotype | 0.81864400 |
| 114 | MP0002116_abnormal_craniofacial_bone | 0.81756775 |
| 115 | MP0005167_abnormal_blood-brain_barrier | 0.80686370 |
| 116 | MP0000350_abnormal_cell_proliferation | 0.79732403 |
| 117 | MP0003984_embryonic_growth_retardation | 0.79246018 |
| 118 | MP0002088_abnormal_embryonic_growth/wei | 0.79113460 |
| 119 | MP0000266_abnormal_heart_morphology | 0.78882191 |
| 120 | MP0002113_abnormal_skeleton_development | 0.78822978 |
| 121 | MP0002106_abnormal_muscle_physiology | 0.77425740 |
| 122 | MP0002269_muscular_atrophy | 0.77296416 |
| 123 | MP0002090_abnormal_vision | 0.77040695 |
| 124 | MP0005330_cardiomyopathy | 0.76817341 |
| 125 | MP0003861_abnormal_nervous_system | 0.76681523 |
| 126 | MP0000750_abnormal_muscle_regeneration | 0.75911814 |
| 127 | MP0005397_hematopoietic_system_phenotyp | 0.75222839 |
| 128 | MP0001545_abnormal_hematopoietic_system | 0.75222839 |
| 129 | MP0005670_abnormal_white_adipose | 0.75127739 |
| 130 | MP0002282_abnormal_trachea_morphology | 0.75022201 |
| 131 | MP0002249_abnormal_larynx_morphology | 0.74237479 |
| 132 | MP0002086_abnormal_extraembryonic_tissu | 0.74081500 |
| 133 | MP0008007_abnormal_cellular_replicative | 0.73804723 |
| 134 | MP0001175_abnormal_lung_morphology | 0.73264195 |
| 135 | MP0000163_abnormal_cartilage_morphology | 0.73066922 |
| 136 | MP0009384_cardiac_valve_regurgitation | 0.72239202 |
| 137 | MP0001614_abnormal_blood_vessel | 0.72092951 |
| 138 | MP0008770_decreased_survivor_rate | 0.71179177 |
| 139 | MP0005380_embryogenesis_phenotype | 0.70924789 |
| 140 | MP0001672_abnormal_embryogenesis/_devel | 0.70924789 |
| 141 | MP0000604_amyloidosis | 0.69894289 |
| 142 | MP0002127_abnormal_cardiovascular_syste | 0.69758477 |
| 143 | MP0002128_abnormal_blood_circulation | 0.69287901 |
| 144 | MP0001697_abnormal_embryo_size | 0.69059389 |
| 145 | MP0001730_embryonic_growth_arrest | 0.68868507 |
| 146 | MP0002114_abnormal_axial_skeleton | 0.67705404 |
| 147 | MP0005666_abnormal_adipose_tissue | 0.67325634 |
| 148 | MP0003453_abnormal_keratinocyte_physiol | 0.67214643 |
| 149 | MP0009250_abnormal_appendicular_skeleto | 0.66551068 |
| 150 | MP0000049_abnormal_middle_ear | 0.65676973 |
| 151 | MP0001243_abnormal_dermal_layer | 0.64853556 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Cerebral aneurysm (HP:0004944) | 4.12593287 |
| 2 | Hyperacusis (HP:0010780) | 3.71830543 |
| 3 | Protrusio acetabuli (HP:0003179) | 3.55977818 |
| 4 | Shallow orbits (HP:0000586) | 3.55372070 |
| 5 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 3.23277791 |
| 6 | Short 4th metacarpal (HP:0010044) | 3.23277791 |
| 7 | Bladder diverticulum (HP:0000015) | 3.21233509 |
| 8 | Cervical subluxation (HP:0003308) | 3.12864801 |
| 9 | Premature rupture of membranes (HP:0001788) | 3.04735747 |
| 10 | Renal duplication (HP:0000075) | 3.00017140 |
| 11 | Aortic aneurysm (HP:0004942) | 2.97975175 |
| 12 | Ulnar bowing (HP:0003031) | 2.83798237 |
| 13 | Spinal rigidity (HP:0003306) | 2.79888819 |
| 14 | Broad face (HP:0000283) | 2.75050719 |
| 15 | Obstructive sleep apnea (HP:0002870) | 2.73871095 |
| 16 | Round ear (HP:0100830) | 2.69927426 |
| 17 | Upper limb amyotrophy (HP:0009129) | 2.66841476 |
| 18 | Distal upper limb amyotrophy (HP:0007149) | 2.66841476 |
| 19 | Ankle contracture (HP:0006466) | 2.63400014 |
| 20 | Bowel diverticulosis (HP:0005222) | 2.60484455 |
| 21 | Elfin facies (HP:0004428) | 2.58073419 |
| 22 | Subacute progressive viral hepatitis (HP:0006572) | 2.54527459 |
| 23 | Vertebral compression fractures (HP:0002953) | 2.53193865 |
| 24 | Aortic dissection (HP:0002647) | 2.52075078 |
| 25 | Mitral valve prolapse (HP:0001634) | 2.51037883 |
| 26 | Hand muscle atrophy (HP:0009130) | 2.50944011 |
| 27 | Abnormality of the 4th metacarpal (HP:0010012) | 2.48124484 |
| 28 | Renovascular hypertension (HP:0100817) | 2.47178214 |
| 29 | Abnormality of dentin (HP:0010299) | 2.42129199 |
| 30 | Arterial tortuosity (HP:0005116) | 2.42104829 |
| 31 | Vascular tortuosity (HP:0004948) | 2.40532758 |
| 32 | Hypopigmentation of the fundus (HP:0007894) | 2.39918389 |
| 33 | Flat cornea (HP:0007720) | 2.38862058 |
| 34 | Joint stiffness (HP:0001387) | 2.38707660 |
| 35 | Dilatation of the ascending aorta (HP:0005111) | 2.38312100 |
| 36 | Stridor (HP:0010307) | 2.37516761 |
| 37 | Pointed chin (HP:0000307) | 2.36469454 |
| 38 | Ocular albinism (HP:0001107) | 2.35048872 |
| 39 | Abnormality of polysaccharide metabolism (HP:0011012) | 2.32898150 |
| 40 | Abnormality of glycosaminoglycan metabolism (HP:0004371) | 2.32898150 |
| 41 | Abnormality of mucopolysaccharide metabolism (HP:0011020) | 2.32898150 |
| 42 | Insomnia (HP:0100785) | 2.32254254 |
| 43 | Genu recurvatum (HP:0002816) | 2.29308361 |
| 44 | Overriding aorta (HP:0002623) | 2.29211378 |
| 45 | Dysostosis multiplex (HP:0000943) | 2.28758161 |
| 46 | Biconcave vertebral bodies (HP:0004586) | 2.28040988 |
| 47 | Urinary glycosaminoglycan excretion (HP:0003541) | 2.27797035 |
| 48 | Mucopolysacchariduria (HP:0008155) | 2.27797035 |
| 49 | Distal lower limb amyotrophy (HP:0008944) | 2.23435664 |
| 50 | Broad metatarsal (HP:0001783) | 2.20605234 |
| 51 | Spondylolisthesis (HP:0003302) | 2.19071457 |
| 52 | Aneurysm (HP:0002617) | 2.17215799 |
| 53 | Abnormality of skeletal muscle fiber size (HP:0012084) | 2.17111500 |
| 54 | Distal lower limb muscle weakness (HP:0009053) | 2.15623979 |
| 55 | Urethral obstruction (HP:0000796) | 2.14920499 |
| 56 | Turricephaly (HP:0000262) | 2.12966390 |
| 57 | Deviation of the hallux (HP:0010051) | 2.12811251 |
| 58 | Iris hypopigmentation (HP:0007730) | 2.11390276 |
| 59 | Hallux valgus (HP:0001822) | 2.11318600 |
| 60 | Disproportionate tall stature (HP:0001519) | 2.10108808 |
| 61 | Neoplasm of the heart (HP:0100544) | 2.08570809 |
| 62 | Peritonitis (HP:0002586) | 2.06981500 |
| 63 | Macroorchidism (HP:0000053) | 2.06660006 |
| 64 | Difficulty climbing stairs (HP:0003551) | 2.05264636 |
| 65 | Ulnar deviation of the wrist (HP:0003049) | 2.03749548 |
| 66 | Striae distensae (HP:0001065) | 2.01749488 |
| 67 | Enlarged penis (HP:0000040) | 2.01629484 |
| 68 | Aplasia/Hypoplasia of the macula (HP:0008059) | 2.01617443 |
| 69 | Scapular winging (HP:0003691) | 2.00140259 |
| 70 | Aortic regurgitation (HP:0001659) | 1.99982228 |
| 71 | J-shaped sella turcica (HP:0002680) | 1.98917482 |
| 72 | Narrow palate (HP:0000189) | 1.97571917 |
| 73 | Lymphangioma (HP:0100764) | 1.97278963 |
| 74 | Blue irides (HP:0000635) | 1.96867600 |
| 75 | Aplasia/Hypoplasia affecting the retina (HP:0008061) | 1.93940511 |
| 76 | Arnold-Chiari malformation (HP:0002308) | 1.93449288 |
| 77 | Atrophic scars (HP:0001075) | 1.90112588 |
| 78 | Blue sclerae (HP:0000592) | 1.89833826 |
| 79 | Wrist flexion contracture (HP:0001239) | 1.89506227 |
| 80 | Abnormality of glycolipid metabolism (HP:0010969) | 1.89143772 |
| 81 | Abnormality of liposaccharide metabolism (HP:0010968) | 1.89143772 |
| 82 | Abnormality of glycosphingolipid metabolism (HP:0004343) | 1.89143772 |
| 83 | Increased density of long bones (HP:0006392) | 1.88218211 |
| 84 | Persistence of primary teeth (HP:0006335) | 1.86289930 |
| 85 | Hyperextensible skin (HP:0000974) | 1.85371274 |
| 86 | Easy fatigability (HP:0003388) | 1.81375698 |
| 87 | Absent frontal sinuses (HP:0002688) | 1.81071706 |
| 88 | Trigonocephaly (HP:0000243) | 1.81071257 |
| 89 | Centrally nucleated skeletal muscle fibers (HP:0003687) | 1.79692244 |
| 90 | Ectopia lentis (HP:0001083) | 1.79575717 |
| 91 | Aortic valve stenosis (HP:0001650) | 1.78775610 |
| 92 | Neonatal short-limb short stature (HP:0008921) | 1.78154830 |
| 93 | Thin ribs (HP:0000883) | 1.77908808 |
| 94 | Increased cerebral lipofuscin (HP:0011813) | 1.77897335 |
| 95 | Bicuspid aortic valve (HP:0001647) | 1.77702212 |
| 96 | Asymmetry of the thorax (HP:0001555) | 1.77034260 |
| 97 | Increased nuchal translucency (HP:0010880) | 1.76788039 |
| 98 | Asymmetric septal hypertrophy (HP:0001670) | 1.76655858 |
| 99 | Wide anterior fontanel (HP:0000260) | 1.76345026 |
| 100 | Supernumerary ribs (HP:0005815) | 1.75047182 |
| 101 | Generalized amyotrophy (HP:0003700) | 1.74090241 |
| 102 | Abnormality of the lower motor neuron (HP:0002366) | 1.73946575 |
| 103 | Broad thumb (HP:0011304) | 1.73880116 |
| 104 | Soft skin (HP:0000977) | 1.73777496 |
| 105 | Joint laxity (HP:0001388) | 1.70367466 |
| 106 | Thin bony cortex (HP:0002753) | 1.69763026 |
| 107 | Inguinal hernia (HP:0000023) | 1.68952674 |
| 108 | Deformed sella turcica (HP:0002681) | 1.67483119 |
| 109 | Elbow flexion contracture (HP:0002987) | 1.67139904 |
| 110 | Slender build (HP:0001533) | 1.67119407 |
| 111 | Long toe (HP:0010511) | 1.66799877 |
| 112 | Infantile muscular hypotonia (HP:0008947) | 1.66140960 |
| 113 | Mitral regurgitation (HP:0001653) | 1.65759816 |
| 114 | Hypoplasia of the iris (HP:0007676) | 1.64907452 |
| 115 | Narrow nasal bridge (HP:0000446) | 1.64544323 |
| 116 | Astrocytoma (HP:0009592) | 1.64089874 |
| 117 | Abnormality of the astrocytes (HP:0100707) | 1.64089874 |
| 118 | Wormian bones (HP:0002645) | 1.63982939 |
| 119 | Natal tooth (HP:0000695) | 1.63902736 |
| 120 | Short nail (HP:0001799) | 1.63716755 |
| 121 | Flexion contracture of toe (HP:0005830) | 1.63160478 |
| 122 | Joint contractures involving the joints of the feet (HP:0100492) | 1.63160478 |
| 123 | Annular pancreas (HP:0001734) | 1.63089792 |
| 124 | Pulmonary artery stenosis (HP:0004415) | 1.63071138 |
| 125 | Aplasia of the musculature (HP:0100854) | 1.62486369 |
| 126 | Abnormality of the radial head (HP:0003995) | 1.62009504 |
| 127 | Exostoses (HP:0100777) | 1.61634254 |
| 128 | Type 1 muscle fiber predominance (HP:0003803) | 1.60928689 |
| 129 | Camptodactyly of toe (HP:0001836) | 1.59836495 |
| 130 | Sacral dimple (HP:0000960) | 1.59479044 |
| 131 | Mildly elevated creatine phosphokinase (HP:0008180) | 1.59350993 |
| 132 | Spinal muscular atrophy (HP:0007269) | 1.57060916 |
| 133 | Long eyelashes (HP:0000527) | 1.56147894 |
| 134 | Dislocated radial head (HP:0003083) | 1.56040317 |
| 135 | Generalized hypotonia (HP:0001290) | 1.53928168 |
| 136 | Hypoventilation (HP:0002791) | 1.53835018 |
| 137 | Increased connective tissue (HP:0009025) | 1.53236599 |
| 138 | Fragile skin (HP:0001030) | 1.52695863 |
| 139 | Megalocornea (HP:0000485) | 1.52399975 |
| 140 | Broad ribs (HP:0000885) | 1.51939240 |
| 141 | Broad phalanges of the hand (HP:0009768) | 1.51633816 |
| 142 | Lower limb amyotrophy (HP:0007210) | 1.51047300 |
| 143 | Fibroma (HP:0010614) | 1.50953266 |
| 144 | Increased variability in muscle fiber diameter (HP:0003557) | 1.50712545 |
| 145 | Long palpebral fissure (HP:0000637) | 1.50167606 |
| 146 | Broad palm (HP:0001169) | 1.50050878 |
| 147 | Supranuclear gaze palsy (HP:0000605) | 1.49379173 |
| 148 | Skin tags (HP:0010609) | 1.48975144 |
| 149 | Hematochezia (HP:0002573) | 1.47136617 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TRIB3 | 4.65257009 |
| 2 | PKN2 | 4.53796016 |
| 3 | MAP3K10 | 3.37785965 |
| 4 | EEF2K | 3.19247749 |
| 5 | RIPK1 | 3.01091394 |
| 6 | SMG1 | 2.33324674 |
| 7 | PDGFRA | 2.28135258 |
| 8 | CDK12 | 2.24115396 |
| 9 | BMX | 2.16666089 |
| 10 | ICK | 2.12330579 |
| 11 | TGFBR2 | 1.80925269 |
| 12 | PTK6 | 1.79289863 |
| 13 | CAMK1G | 1.72461571 |
| 14 | PRPF4B | 1.71740969 |
| 15 | SIK2 | 1.71380078 |
| 16 | KSR1 | 1.69200668 |
| 17 | MAP2K3 | 1.67574192 |
| 18 | TTN | 1.66481136 |
| 19 | TYRO3 | 1.66106756 |
| 20 | CAMK1D | 1.65004045 |
| 21 | EPHB2 | 1.62945918 |
| 22 | MST1R | 1.60375894 |
| 23 | DDR2 | 1.58645840 |
| 24 | LATS2 | 1.53828909 |
| 25 | PAK6 | 1.50842694 |
| 26 | PAK4 | 1.50775361 |
| 27 | MAP3K11 | 1.49007142 |
| 28 | PAK2 | 1.41084605 |
| 29 | PRKD3 | 1.37733807 |
| 30 | EPHA3 | 1.37311821 |
| 31 | MTOR | 1.36473792 |
| 32 | ERN1 | 1.35475778 |
| 33 | MAP4K1 | 1.24293627 |
| 34 | TAOK1 | 1.23132541 |
| 35 | MAP3K6 | 1.20725359 |
| 36 | DMPK | 1.19972802 |
| 37 | SIK1 | 1.19775464 |
| 38 | ALK | 1.18737988 |
| 39 | IRAK3 | 1.18313080 |
| 40 | MAP3K3 | 1.18159758 |
| 41 | SCYL2 | 1.12205050 |
| 42 | MARK3 | 1.10385003 |
| 43 | CAMKK1 | 1.06886914 |
| 44 | RET | 1.05267356 |
| 45 | MAP3K9 | 1.04332120 |
| 46 | TESK1 | 1.03607651 |
| 47 | SIK3 | 1.02770930 |
| 48 | PDGFRB | 1.02760291 |
| 49 | RPS6KL1 | 1.01941490 |
| 50 | RPS6KC1 | 1.01941490 |
| 51 | PTK2 | 1.01639009 |
| 52 | KSR2 | 0.98421422 |
| 53 | BRD4 | 0.96509762 |
| 54 | MAPK7 | 0.95424225 |
| 55 | PDPK1 | 0.93298039 |
| 56 | MOS | 0.90763446 |
| 57 | MET | 0.90756448 |
| 58 | MUSK | 0.86699822 |
| 59 | LRRK2 | 0.84851610 |
| 60 | MAPK12 | 0.84624480 |
| 61 | RPS6KA6 | 0.84113364 |
| 62 | MAP2K2 | 0.82511373 |
| 63 | FGFR1 | 0.81907214 |
| 64 | FGFR4 | 0.80461228 |
| 65 | MARK2 | 0.80419951 |
| 66 | LIMK1 | 0.79573439 |
| 67 | MAP3K7 | 0.77149144 |
| 68 | TNK2 | 0.75768480 |
| 69 | NTRK1 | 0.74379999 |
| 70 | LATS1 | 0.73261636 |
| 71 | MARK1 | 0.73013865 |
| 72 | CLK1 | 0.72342402 |
| 73 | NTRK2 | 0.71815351 |
| 74 | PRKCH | 0.70880807 |
| 75 | HIPK2 | 0.69564446 |
| 76 | ERBB2 | 0.66356479 |
| 77 | EPHB1 | 0.65659618 |
| 78 | BLK | 0.63651528 |
| 79 | MINK1 | 0.62998510 |
| 80 | ZAP70 | 0.62646096 |
| 81 | FGFR2 | 0.62502246 |
| 82 | NEK1 | 0.62480802 |
| 83 | ILK | 0.62388220 |
| 84 | HCK | 0.60801205 |
| 85 | CDK9 | 0.60469913 |
| 86 | PRKD2 | 0.60364015 |
| 87 | ROCK1 | 0.60220499 |
| 88 | KIT | 0.59966318 |
| 89 | MYLK | 0.58548406 |
| 90 | CDC42BPA | 0.58495775 |
| 91 | STK10 | 0.57372382 |
| 92 | KDR | 0.56223633 |
| 93 | MAP3K1 | 0.55682356 |
| 94 | TSSK6 | 0.55089050 |
| 95 | CAMK4 | 0.55035412 |
| 96 | CDK6 | 0.54388849 |
| 97 | TAOK2 | 0.53864671 |
| 98 | ITK | 0.53846681 |
| 99 | FGFR3 | 0.53610597 |
| 100 | PAK3 | 0.53197629 |
| 101 | MAPKAPK3 | 0.53059199 |
| 102 | EPHA2 | 0.52386309 |
| 103 | NEK2 | 0.52250009 |
| 104 | RPS6KA2 | 0.49305899 |
| 105 | PRKD1 | 0.49134691 |
| 106 | MAP3K13 | 0.48879596 |
| 107 | PRKAA1 | 0.48787632 |
| 108 | PRKG2 | 0.48425699 |
| 109 | UHMK1 | 0.47427670 |
| 110 | CSF1R | 0.47125521 |
| 111 | MAPK4 | 0.47057253 |
| 112 | MAP2K1 | 0.46956199 |
| 113 | DYRK1B | 0.46197164 |
| 114 | CHUK | 0.45456625 |
| 115 | MAPK11 | 0.45398835 |
| 116 | PDK1 | 0.45227472 |
| 117 | RPS6KB2 | 0.43461883 |
| 118 | SRC | 0.43443057 |
| 119 | TBK1 | 0.42701530 |
| 120 | TYK2 | 0.41214207 |
| 121 | CSNK1A1L | 0.40628643 |
| 122 | CAMK1 | 0.40428991 |
| 123 | RPS6KA1 | 0.40398021 |
| 124 | PTK2B | 0.40370970 |
| 125 | TGFBR1 | 0.40321199 |
| 126 | JAK3 | 0.40046641 |
| 127 | STK38 | 0.39771560 |
| 128 | PRKAA2 | 0.39366288 |
| 129 | PIM2 | 0.39291856 |
| 130 | MAPK1 | 0.38711403 |
| 131 | FLT3 | 0.37878217 |
| 132 | CDK4 | 0.37630133 |
| 133 | MAPK8 | 0.37018991 |
| 134 | TIE1 | 0.37018632 |
| 135 | MAPK15 | 0.35747402 |
| 136 | STK11 | 0.35046384 |
| 137 | AKT2 | 0.34578913 |
| 138 | MAPK9 | 0.34122543 |
| 139 | CDK18 | 0.33477831 |
| 140 | CDK7 | 0.32472450 |
| 141 | MAP3K8 | 0.31895187 |
| 142 | INSR | 0.31528190 |
| 143 | CDK15 | 0.31264536 |
| 144 | CDK11A | 0.30191999 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Other glycan degradation_Homo sapiens_hsa00511 | 2.50323154 |
| 2 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 1.92419317 |
| 3 | Notch signaling pathway_Homo sapiens_hsa04330 | 1.84179559 |
| 4 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.77302707 |
| 5 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.74053925 |
| 6 | Basal cell carcinoma_Homo sapiens_hsa05217 | 1.61195130 |
| 7 | Colorectal cancer_Homo sapiens_hsa05210 | 1.59947097 |
| 8 | Glioma_Homo sapiens_hsa05214 | 1.49978688 |
| 9 | Focal adhesion_Homo sapiens_hsa04510 | 1.48427253 |
| 10 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 1.45601383 |
| 11 | Adherens junction_Homo sapiens_hsa04520 | 1.45535975 |
| 12 | Endometrial cancer_Homo sapiens_hsa05213 | 1.44298036 |
| 13 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 1.43931281 |
| 14 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 1.43607217 |
| 15 | Renal cell carcinoma_Homo sapiens_hsa05211 | 1.40710910 |
| 16 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 1.39546044 |
| 17 | mTOR signaling pathway_Homo sapiens_hsa04150 | 1.34919174 |
| 18 | Melanogenesis_Homo sapiens_hsa04916 | 1.34546185 |
| 19 | Axon guidance_Homo sapiens_hsa04360 | 1.32094137 |
| 20 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 1.30740542 |
| 21 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 1.30176337 |
| 22 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 1.27422043 |
| 23 | Hippo signaling pathway_Homo sapiens_hsa04390 | 1.27242228 |
| 24 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.27130571 |
| 25 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 1.25808249 |
| 26 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 1.24421975 |
| 27 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 1.24119388 |
| 28 | VEGF signaling pathway_Homo sapiens_hsa04370 | 1.23510776 |
| 29 | Viral myocarditis_Homo sapiens_hsa05416 | 1.21485618 |
| 30 | Pancreatic cancer_Homo sapiens_hsa05212 | 1.19710036 |
| 31 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 1.18353920 |
| 32 | Osteoclast differentiation_Homo sapiens_hsa04380 | 1.17921696 |
| 33 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.17036299 |
| 34 | ECM-receptor interaction_Homo sapiens_hsa04512 | 1.16755444 |
| 35 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.14232371 |
| 36 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 1.13692263 |
| 37 | Prion diseases_Homo sapiens_hsa05020 | 1.12749082 |
| 38 | ErbB signaling pathway_Homo sapiens_hsa04012 | 1.12527952 |
| 39 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.11350269 |
| 40 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 1.10078797 |
| 41 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.09042216 |
| 42 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.09025761 |
| 43 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 1.07205510 |
| 44 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 1.06039819 |
| 45 | HTLV-I infection_Homo sapiens_hsa05166 | 1.03764237 |
| 46 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.01327039 |
| 47 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.99845820 |
| 48 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.99389930 |
| 49 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.97957380 |
| 50 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.97442328 |
| 51 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.96429664 |
| 52 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.95638050 |
| 53 | Pathways in cancer_Homo sapiens_hsa05200 | 0.95236982 |
| 54 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.95088024 |
| 55 | Amoebiasis_Homo sapiens_hsa05146 | 0.94622818 |
| 56 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.94040056 |
| 57 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.93999234 |
| 58 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 0.92604499 |
| 59 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.92145249 |
| 60 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.91929993 |
| 61 | Gap junction_Homo sapiens_hsa04540 | 0.91929183 |
| 62 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.90537795 |
| 63 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.90495369 |
| 64 | Endocytosis_Homo sapiens_hsa04144 | 0.89756917 |
| 65 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.89617064 |
| 66 | Platelet activation_Homo sapiens_hsa04611 | 0.89617062 |
| 67 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.88802443 |
| 68 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.87077645 |
| 69 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.87007030 |
| 70 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.85336400 |
| 71 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.85305673 |
| 72 | Bladder cancer_Homo sapiens_hsa05219 | 0.84829151 |
| 73 | Hepatitis B_Homo sapiens_hsa05161 | 0.84697474 |
| 74 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.84688620 |
| 75 | Melanoma_Homo sapiens_hsa05218 | 0.83188040 |
| 76 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.82366256 |
| 77 | Prostate cancer_Homo sapiens_hsa05215 | 0.82316656 |
| 78 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.81627142 |
| 79 | Lysine degradation_Homo sapiens_hsa00310 | 0.80774181 |
| 80 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.80738212 |
| 81 | Malaria_Homo sapiens_hsa05144 | 0.79631965 |
| 82 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.79003441 |
| 83 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.77398106 |
| 84 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.77014993 |
| 85 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.76629371 |
| 86 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.75015214 |
| 87 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.74996462 |
| 88 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.73655112 |
| 89 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.73542568 |
| 90 | Shigellosis_Homo sapiens_hsa05131 | 0.73233745 |
| 91 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.73075579 |
| 92 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.71905722 |
| 93 | Apoptosis_Homo sapiens_hsa04210 | 0.70909635 |
| 94 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.70767049 |
| 95 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.69919782 |
| 96 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.68454254 |
| 97 | Salmonella infection_Homo sapiens_hsa05132 | 0.68439844 |
| 98 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.67866560 |
| 99 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 0.67673038 |
| 100 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.67285657 |
| 101 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.67189145 |
| 102 | Lysosome_Homo sapiens_hsa04142 | 0.67096443 |
| 103 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.66755780 |
| 104 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.66751531 |
| 105 | Leishmaniasis_Homo sapiens_hsa05140 | 0.66215042 |
| 106 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.65952021 |
| 107 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.65583180 |
| 108 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.65192534 |
| 109 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.64901640 |
| 110 | Thyroid cancer_Homo sapiens_hsa05216 | 0.62664708 |
| 111 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.61894792 |
| 112 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.61590952 |
| 113 | Tuberculosis_Homo sapiens_hsa05152 | 0.60703735 |
| 114 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.60677591 |
| 115 | Insulin resistance_Homo sapiens_hsa04931 | 0.60598703 |
| 116 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.57577117 |
| 117 | Pertussis_Homo sapiens_hsa05133 | 0.55032005 |
| 118 | Phagosome_Homo sapiens_hsa04145 | 0.54348104 |

