

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | cell-cell junction maintenance (GO:0045217) | 5.19375622 |
| 2 | neuronal action potential propagation (GO:0019227) | 4.58556655 |
| 3 | angiotensin maturation (GO:0002003) | 4.47929476 |
| 4 | peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800) | 4.21056300 |
| 5 | cell junction maintenance (GO:0034331) | 4.08749714 |
| 6 | myelination in peripheral nervous system (GO:0022011) | 4.03523376 |
| 7 | peripheral nervous system axon ensheathment (GO:0032292) | 4.03523376 |
| 8 | adhesion of symbiont to host (GO:0044406) | 4.03211341 |
| 9 | ensheathment of neurons (GO:0007272) | 3.97771699 |
| 10 | axon ensheathment (GO:0008366) | 3.97771699 |
| 11 | barbed-end actin filament capping (GO:0051016) | 3.97070688 |
| 12 | detection of temperature stimulus involved in sensory perception of pain (GO:0050965) | 3.82772630 |
| 13 | detection of temperature stimulus involved in sensory perception (GO:0050961) | 3.82772630 |
| 14 | detection of temperature stimulus (GO:0016048) | 3.82582160 |
| 15 | peptidyl-tyrosine autophosphorylation (GO:0038083) | 3.62691734 |
| 16 | cell migration involved in heart development (GO:0060973) | 3.62644664 |
| 17 | cell adhesion mediated by integrin (GO:0033627) | 3.52700532 |
| 18 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 3.48079436 |
| 19 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 3.41933691 |
| 20 | myelination (GO:0042552) | 3.39602922 |
| 21 | central nervous system myelination (GO:0022010) | 3.32087266 |
| 22 | axon ensheathment in central nervous system (GO:0032291) | 3.32087266 |
| 23 | cGMP-mediated signaling (GO:0019934) | 3.26917863 |
| 24 | myelin maintenance (GO:0043217) | 3.25145684 |
| 25 | enteric nervous system development (GO:0048484) | 3.25136322 |
| 26 | keratan sulfate catabolic process (GO:0042340) | 3.24587158 |
| 27 | collagen fibril organization (GO:0030199) | 3.23010401 |
| 28 | hemidesmosome assembly (GO:0031581) | 3.17551390 |
| 29 | fatty acid elongation (GO:0030497) | 3.16340869 |
| 30 | extracellular fibril organization (GO:0043206) | 3.12297331 |
| 31 | peripheral nervous system neuron development (GO:0048935) | 3.11945433 |
| 32 | regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081) | 3.11227748 |
| 33 | regulation of calcineurin-NFAT signaling cascade (GO:0070884) | 3.09739386 |
| 34 | vascular endothelial growth factor signaling pathway (GO:0038084) | 3.07849510 |
| 35 | skin morphogenesis (GO:0043589) | 3.05751050 |
| 36 | regulation of extracellular matrix disassembly (GO:0010715) | 3.04673591 |
| 37 | extracellular matrix assembly (GO:0085029) | 3.03110560 |
| 38 | neurofilament cytoskeleton organization (GO:0060052) | 3.02909153 |
| 39 | membrane raft organization (GO:0031579) | 3.01769202 |
| 40 | basement membrane organization (GO:0071711) | 2.95320507 |
| 41 | collagen catabolic process (GO:0030574) | 2.94467843 |
| 42 | response to lipoprotein particle (GO:0055094) | 2.88823403 |
| 43 | myelin assembly (GO:0032288) | 2.88481513 |
| 44 | regulation of pigment cell differentiation (GO:0050932) | 2.86519352 |
| 45 | collagen metabolic process (GO:0032963) | 2.86404284 |
| 46 | protein heterotrimerization (GO:0070208) | 2.83045526 |
| 47 | glycosphingolipid catabolic process (GO:0046479) | 2.81757700 |
| 48 | positive regulation of receptor recycling (GO:0001921) | 2.81337311 |
| 49 | apoptotic cell clearance (GO:0043277) | 2.79695884 |
| 50 | multicellular organismal catabolic process (GO:0044243) | 2.77465103 |
| 51 | multicellular organismal macromolecule metabolic process (GO:0044259) | 2.76137122 |
| 52 | dermatan sulfate biosynthetic process (GO:0030208) | 2.74269514 |
| 53 | NADH metabolic process (GO:0006734) | 2.64698122 |
| 54 | cellular response to vascular endothelial growth factor stimulus (GO:0035924) | 2.63302156 |
| 55 | glycolipid catabolic process (GO:0019377) | 2.61157392 |
| 56 | negative regulation of leukocyte chemotaxis (GO:0002689) | 2.60801857 |
| 57 | glomerular filtration (GO:0003094) | 2.59854021 |
| 58 | multicellular organismal metabolic process (GO:0044236) | 2.59310351 |
| 59 | regulation of membrane protein ectodomain proteolysis (GO:0051043) | 2.58418461 |
| 60 | positive regulation of mitochondrial calcium ion concentration (GO:0051561) | 2.58218973 |
| 61 | fibril organization (GO:0097435) | 2.58071669 |
| 62 | cellular response to cadmium ion (GO:0071276) | 2.56163647 |
| 63 | peptidyl-proline hydroxylation (GO:0019511) | 2.55508838 |
| 64 | stress fiber assembly (GO:0043149) | 2.53747437 |
| 65 | response to water (GO:0009415) | 2.52839467 |
| 66 | cytoskeletal anchoring at plasma membrane (GO:0007016) | 2.52730339 |
| 67 | dermatan sulfate metabolic process (GO:0030205) | 2.51839210 |
| 68 | positive regulation of p38MAPK cascade (GO:1900745) | 2.50991806 |
| 69 | fat-soluble vitamin biosynthetic process (GO:0042362) | 2.50984719 |
| 70 | negative regulation of smooth muscle cell migration (GO:0014912) | 2.50855218 |
| 71 | extracellular matrix disassembly (GO:0022617) | 2.50637148 |
| 72 | chondroitin sulfate catabolic process (GO:0030207) | 2.50539129 |
| 73 | protein targeting to plasma membrane (GO:0072661) | 2.49798657 |
| 74 | positive regulation of membrane protein ectodomain proteolysis (GO:0051044) | 2.47749941 |
| 75 | sequestering of extracellular ligand from receptor (GO:0035581) | 2.45316066 |
| 76 | regulation of early endosome to late endosome transport (GO:2000641) | 2.44048862 |
| 77 | regulation of integrin-mediated signaling pathway (GO:2001044) | 2.43653324 |
| 78 | protein retention in ER lumen (GO:0006621) | 2.43188222 |
| 79 | endodermal cell differentiation (GO:0035987) | 2.42693733 |
| 80 | blood vessel maturation (GO:0001955) | 2.42592655 |
| 81 | type B pancreatic cell proliferation (GO:0044342) | 2.41990209 |
| 82 | cellular response to nitric oxide (GO:0071732) | 2.41678787 |
| 83 | amyloid precursor protein metabolic process (GO:0042982) | 2.41573862 |
| 84 | response to methylmercury (GO:0051597) | 2.41115606 |
| 85 | renal filtration (GO:0097205) | 2.40404604 |
| 86 | negative regulation of protein localization to cell surface (GO:2000009) | 2.38176869 |
| 87 | cholesterol biosynthetic process (GO:0006695) | 2.37682748 |
| 88 | protein localization to endosome (GO:0036010) | 2.37408279 |
| 89 | positive regulation of macrophage cytokine production (GO:0060907) | 2.36445686 |
| 90 | positive regulation of pseudopodium assembly (GO:0031274) | 2.36293012 |
| 91 | adhesion of symbiont to host cell (GO:0044650) | 2.35979132 |
| 92 | virion attachment to host cell (GO:0019062) | 2.35979132 |
| 93 | regulation of mononuclear cell migration (GO:0071675) | 2.35889033 |
| 94 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 2.34750456 |
| 95 | sterol biosynthetic process (GO:0016126) | 2.34556622 |
| 96 | phagocytosis, engulfment (GO:0006911) | 2.33597416 |
| 97 | long-chain fatty-acyl-CoA biosynthetic process (GO:0035338) | 2.33426390 |
| 98 | positive regulation by symbiont of host defense response (GO:0052509) | 2.33160937 |
| 99 | modulation by symbiont of host defense response (GO:0052031) | 2.33160937 |
| 100 | modulation by organism of immune response of other organism involved in symbiotic interaction (GO:00 | 2.33160937 |
| 101 | modulation by organism of defense response of other organism involved in symbiotic interaction (GO:0 | 2.33160937 |
| 102 | positive regulation by organism of defense response of other organism involved in symbiotic interact | 2.33160937 |
| 103 | modulation by symbiont of host immune response (GO:0052553) | 2.33160937 |
| 104 | glomerular basement membrane development (GO:0032836) | 2.33146292 |
| 105 | negative regulation of chondrocyte differentiation (GO:0032331) | 2.32276458 |
| 106 | behavioral response to pain (GO:0048266) | 2.31335988 |
| 107 | negative regulation of calcium ion transport into cytosol (GO:0010523) | 2.31209345 |
| 108 | vascular endothelial growth factor receptor signaling pathway (GO:0048010) | 2.31149048 |
| 109 | peptide catabolic process (GO:0043171) | 2.31030838 |
| 110 | sodium ion export (GO:0071436) | 2.30473577 |
| 111 | cellular response to nicotine (GO:0071316) | 2.30251261 |
| 112 | negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315) | 2.29045630 |
| 113 | glial cell migration (GO:0008347) | 2.27965967 |
| 114 | membrane budding (GO:0006900) | 2.27878492 |
| 115 | plasma membrane repair (GO:0001778) | 2.27504200 |
| 116 | fructose metabolic process (GO:0006000) | 2.27023868 |
| 117 | lipoprotein transport (GO:0042953) | 2.25916757 |
| 118 | neuronal action potential (GO:0019228) | 2.25891694 |
| 119 | regulation of pseudopodium assembly (GO:0031272) | 2.25027985 |
| 120 | endothelial cell chemotaxis (GO:0035767) | 2.24028501 |
| 121 | extracellular matrix organization (GO:0030198) | 2.23778081 |
| 122 | negative regulation of protein autophosphorylation (GO:0031953) | 2.23656572 |
| 123 | long-chain fatty-acyl-CoA metabolic process (GO:0035336) | 2.23648055 |
| 124 | regulation of amyloid precursor protein catabolic process (GO:1902991) | 2.23637687 |
| 125 | cyclooxygenase pathway (GO:0019371) | 2.23503115 |
| 126 | negative regulation of nitric oxide biosynthetic process (GO:0045019) | 2.22891719 |
| 127 | retina vasculature morphogenesis in camera-type eye (GO:0061299) | 2.22630883 |
| 128 | extracellular structure organization (GO:0043062) | 2.22536151 |
| 129 | mesenchymal-epithelial cell signaling (GO:0060638) | 2.21793241 |
| 130 | import into cell (GO:0098657) | 2.21698244 |
| 131 | negative regulation of homotypic cell-cell adhesion (GO:0034111) | 2.20664236 |
| 132 | vitamin A metabolic process (GO:0006776) | 2.19799263 |
| 133 | neutrophil activation involved in immune response (GO:0002283) | 2.19538734 |
| 134 | regulation of vitamin metabolic process (GO:0030656) | 2.19365966 |
| 135 | wound healing, spreading of epidermal cells (GO:0035313) | 2.19318252 |
| 136 | Golgi transport vesicle coating (GO:0048200) | 2.19173742 |
| 137 | COPI coating of Golgi vesicle (GO:0048205) | 2.19173742 |
| 138 | negative regulation of amyloid precursor protein catabolic process (GO:1902992) | 2.19100721 |
| 139 | mitochondrial calcium ion homeostasis (GO:0051560) | 2.18802212 |
| 140 | actin filament capping (GO:0051693) | 2.18172792 |
| 141 | cortical actin cytoskeleton organization (GO:0030866) | 2.18144444 |
| 142 | cellular response to thyroid hormone stimulus (GO:0097067) | 2.18120473 |
| 143 | regulation of guanylate cyclase activity (GO:0031282) | 2.17174435 |
| 144 | regulation of lipoprotein metabolic process (GO:0050746) | 2.16868049 |
| 145 | chondrocyte proliferation (GO:0035988) | 2.16211823 |
| 146 | glycosylceramide metabolic process (GO:0006677) | 2.15319983 |
| 147 | negative regulation of dendrite morphogenesis (GO:0050774) | 2.15211378 |
| 148 | transcytosis (GO:0045056) | 2.15022433 |
| 149 | Leydig cell differentiation (GO:0033327) | 2.14610261 |
| 150 | regulation of smooth muscle cell migration (GO:0014910) | 2.14260585 |
| 151 | response to copper ion (GO:0046688) | 2.13429135 |
| 152 | positive regulation of potassium ion transmembrane transporter activity (GO:1901018) | 2.13336753 |
| 153 | cellular component maintenance (GO:0043954) | 2.12704689 |
| 154 | nerve growth factor signaling pathway (GO:0038180) | 2.12328456 |
| 155 | actin filament depolymerization (GO:0030042) | 2.11540250 |
| 156 | ceramide catabolic process (GO:0046514) | 2.11215984 |
| 157 | long-chain fatty acid biosynthetic process (GO:0042759) | 2.10932887 |
| 158 | hormone catabolic process (GO:0042447) | 2.10792054 |
| 159 | eosinophil chemotaxis (GO:0048245) | 2.09944874 |
| 160 | axon development (GO:0061564) | 2.09865983 |
| 161 | protein hydroxylation (GO:0018126) | 2.09561479 |
| 162 | semaphorin-plexin signaling pathway (GO:0071526) | 2.08421185 |
| 163 | negative regulation of platelet activation (GO:0010544) | 2.08338055 |
| 164 | positive regulation of smooth muscle cell migration (GO:0014911) | 2.08215378 |
| 165 | positive regulation of extracellular matrix organization (GO:1903055) | 2.07682921 |
| 166 | substrate adhesion-dependent cell spreading (GO:0034446) | 2.06369896 |
| 167 | cellular response to reactive nitrogen species (GO:1902170) | 2.04932960 |
| 168 | epithelial cell-cell adhesion (GO:0090136) | 2.04261890 |
| 169 | negative regulation of vascular permeability (GO:0043116) | 2.03875054 |
| 170 | lipopolysaccharide biosynthetic process (GO:0009103) | 2.03651996 |
| 171 | positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316) | 2.03441118 |
| 172 | positive regulation of endothelial cell apoptotic process (GO:2000353) | 2.00629255 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 3.76410951 |
| 2 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 3.03433914 |
| 3 | * CDX2_19796622_ChIP-Seq_MESCs_Mouse | 2.66309229 |
| 4 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 2.59205216 |
| 5 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 2.23371635 |
| 6 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 2.06036627 |
| 7 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 2.03904756 |
| 8 | * PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 2.03609761 |
| 9 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 2.01824522 |
| 10 | CJUN_26792858_Chip-Seq_BT549_Human | 1.97628391 |
| 11 | * SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 1.94693166 |
| 12 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.89968201 |
| 13 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.88050286 |
| 14 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 1.87337135 |
| 15 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 1.82177126 |
| 16 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 1.82177126 |
| 17 | * SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 1.77248370 |
| 18 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.76077816 |
| 19 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.72634819 |
| 20 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.72634819 |
| 21 | * TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 1.68783826 |
| 22 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.68384993 |
| 23 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 1.67706193 |
| 24 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.66419615 |
| 25 | * EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.65860186 |
| 26 | * MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.64642695 |
| 27 | SOX2_20726797_ChIP-Seq_SW620_Human | 1.58091266 |
| 28 | * SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 1.56469394 |
| 29 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.54661409 |
| 30 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.53248121 |
| 31 | CLOCK_20551151_ChIP-Seq_293T_Human | 1.52289630 |
| 32 | Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse | 1.51615808 |
| 33 | * TBX20_22080862_ChIP-Seq_HEART_Mouse | 1.50924561 |
| 34 | * TBX20_22328084_ChIP-Seq_HEART_Mouse | 1.50924561 |
| 35 | CDX2_20551321_ChIP-Seq_CACO-2_Human | 1.50892827 |
| 36 | * SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.50390397 |
| 37 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.49575061 |
| 38 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.48704915 |
| 39 | * SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.48004890 |
| 40 | BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 1.47394132 |
| 41 | * EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.42880219 |
| 42 | CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse | 1.42749333 |
| 43 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.42617895 |
| 44 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.42077002 |
| 45 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.36983985 |
| 46 | BRD4_25478319_ChIP-Seq_HGPS_Human | 1.36684370 |
| 47 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.36668581 |
| 48 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.36587247 |
| 49 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.35405030 |
| 50 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.34388405 |
| 51 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 1.34247494 |
| 52 | NR3C1_23031785_ChIP-Seq_PC12_Mouse | 1.34186477 |
| 53 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.33842431 |
| 54 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.33612187 |
| 55 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.23703206 |
| 56 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.22371287 |
| 57 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.20679337 |
| 58 | SMC1_22415368_ChIP-Seq_MEFs_Mouse | 1.18853386 |
| 59 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.18658104 |
| 60 | NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human | 1.18579914 |
| 61 | LXR_22158963_ChIP-Seq_LIVER_Mouse | 1.18492764 |
| 62 | JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.18421793 |
| 63 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.18017472 |
| 64 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.16439883 |
| 65 | * CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.15752299 |
| 66 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 1.14520087 |
| 67 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 1.13994774 |
| 68 | * EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 1.13318939 |
| 69 | * RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.13093280 |
| 70 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.12106610 |
| 71 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 1.11470127 |
| 72 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.10587073 |
| 73 | VDR_24787735_ChIP-Seq_THP-1_Human | 1.09926013 |
| 74 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.09460678 |
| 75 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.09241663 |
| 76 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.08858357 |
| 77 | WT1_25993318_ChIP-Seq_PODOCYTE_Human | 1.08835571 |
| 78 | TP53_16413492_ChIP-PET_HCT116_Human | 1.08608805 |
| 79 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.06402968 |
| 80 | SA1_22415368_ChIP-Seq_MEFs_Mouse | 1.05545752 |
| 81 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.05410613 |
| 82 | TP63_23658742_ChIP-Seq_EP156T_Human | 1.03562546 |
| 83 | EGR1_19032775_ChIP-ChIP_M12_Human | 1.02591026 |
| 84 | * EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.02475990 |
| 85 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 1.00956160 |
| 86 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.00902564 |
| 87 | IRF8_21731497_ChIP-ChIP_J774_Mouse | 1.00688265 |
| 88 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 1.00411177 |
| 89 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 1.00312465 |
| 90 | RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human | 1.00227235 |
| 91 | * PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.99403858 |
| 92 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 0.98273830 |
| 93 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 0.98273830 |
| 94 | * RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 0.98189469 |
| 95 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 0.97425353 |
| 96 | IRF8_27001747_Chip-Seq_BMDM_Mouse | 0.97188192 |
| 97 | ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 0.95546246 |
| 98 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 0.95541424 |
| 99 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 0.95151963 |
| 100 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 0.94737182 |
| 101 | GATA1_22025678_ChIP-Seq_K562_Human | 0.94455296 |
| 102 | LXR_22292898_ChIP-Seq_THP-1_Human | 0.93338434 |
| 103 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 0.93245631 |
| 104 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 0.92700352 |
| 105 | * SUZ12_27294783_Chip-Seq_ESCs_Mouse | 0.91368123 |
| 106 | * ELK3_25401928_ChIP-Seq_HUVEC_Human | 0.91239090 |
| 107 | KLF5_25053715_ChIP-Seq_YYC3_Human | 0.90983932 |
| 108 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 0.90691516 |
| 109 | BCAT_22108803_ChIP-Seq_LS180_Human | 0.90419458 |
| 110 | * SMC3_22415368_ChIP-Seq_MEFs_Mouse | 0.89659268 |
| 111 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 0.89633037 |
| 112 | * KDM2B_26808549_Chip-Seq_K562_Human | 0.89333621 |
| 113 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.89230120 |
| 114 | SMAD4_21799915_ChIP-Seq_A2780_Human | 0.89016636 |
| 115 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 0.88704563 |
| 116 | * SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse | 0.87790180 |
| 117 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 0.87298824 |
| 118 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 0.86520256 |
| 119 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 0.86387464 |
| 120 | NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 0.85227118 |
| 121 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 0.85195670 |
| 122 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 0.84890113 |
| 123 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 0.84202851 |
| 124 | GATA1_19941826_ChIP-Seq_K562_Human | 0.83450377 |
| 125 | IRF1_21803131_ChIP-Seq_MONOCYTES_Human | 0.83311733 |
| 126 | CTNNB1_20460455_ChIP-Seq_HCT116_Human | 0.81845577 |
| 127 | SOX2_27498859_Chip-Seq_STOMACH_Mouse | 0.81522267 |
| 128 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 0.79730456 |
| 129 | TP53_23651856_ChIP-Seq_MEFs_Mouse | 0.79641634 |
| 130 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 0.79089554 |
| 131 | * RACK7_27058665_Chip-Seq_MCF-7_Human | 0.78796108 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0008438_abnormal_cutaneous_collagen | 6.30172328 |
| 2 | MP0005275_abnormal_skin_tensile | 4.29925669 |
| 3 | MP0004272_abnormal_basement_membrane | 4.14166364 |
| 4 | MP0005503_abnormal_tendon_morphology | 3.99835061 |
| 5 | MP0001968_abnormal_touch/_nociception | 3.60392645 |
| 6 | * MP0000920_abnormal_myelination | 3.44111226 |
| 7 | MP0004858_abnormal_nervous_system | 3.44046999 |
| 8 | MP0002735_abnormal_chemical_nociception | 2.90279923 |
| 9 | MP0001958_emphysema | 2.69136509 |
| 10 | MP0003950_abnormal_plasma_membrane | 2.40054811 |
| 11 | MP0005360_urolithiasis | 2.28349650 |
| 12 | MP0002736_abnormal_nociception_after | 2.26198218 |
| 13 | MP0000751_myopathy | 2.24009492 |
| 14 | MP0003279_aneurysm | 2.21616654 |
| 15 | MP0002733_abnormal_thermal_nociception | 2.18258844 |
| 16 | MP0003045_fibrosis | 2.16218641 |
| 17 | * MP0003634_abnormal_glial_cell | 2.15287071 |
| 18 | MP0002734_abnormal_mechanical_nocicepti | 2.11399825 |
| 19 | MP0005058_abnormal_lysosome_morphology | 1.99545543 |
| 20 | MP0003136_yellow_coat_color | 1.98860865 |
| 21 | MP0005623_abnormal_meninges_morphology | 1.94184849 |
| 22 | MP0005171_absent_coat_pigmentation | 1.86717318 |
| 23 | MP0001986_abnormal_taste_sensitivity | 1.84518677 |
| 24 | MP0004270_analgesia | 1.81912442 |
| 25 | MP0001970_abnormal_pain_threshold | 1.76807500 |
| 26 | MP0005670_abnormal_white_adipose | 1.68335642 |
| 27 | MP0002108_abnormal_muscle_morphology | 1.51287866 |
| 28 | MP0003690_abnormal_glial_cell | 1.51072842 |
| 29 | MP0003705_abnormal_hypodermis_morpholog | 1.50505156 |
| 30 | MP0000604_amyloidosis | 1.48177482 |
| 31 | MP0002295_abnormal_pulmonary_circulatio | 1.46408545 |
| 32 | MP0002877_abnormal_melanocyte_morpholog | 1.46200323 |
| 33 | MP0009384_cardiac_valve_regurgitation | 1.39422243 |
| 34 | MP0005508_abnormal_skeleton_morphology | 1.37554508 |
| 35 | MP0003329_amyloid_beta_deposits | 1.35883647 |
| 36 | MP0006138_congestive_heart_failure | 1.28618198 |
| 37 | MP0003183_abnormal_peptide_metabolism | 1.27081883 |
| 38 | MP0003566_abnormal_cell_adhesion | 1.26980916 |
| 39 | MP0004134_abnormal_chest_morphology | 1.25422370 |
| 40 | MP0004510_myositis | 1.24982789 |
| 41 | MP0003633_abnormal_nervous_system | 1.24975043 |
| 42 | MP0009780_abnormal_chondrocyte_physiolo | 1.22728114 |
| 43 | MP0002933_joint_inflammation | 1.22533055 |
| 44 | MP0001299_abnormal_eye_distance/ | 1.18010718 |
| 45 | MP0001533_abnormal_skeleton_physiology | 1.16360283 |
| 46 | MP0000013_abnormal_adipose_tissue | 1.15119981 |
| 47 | MP0003631_nervous_system_phenotype | 1.15113139 |
| 48 | MP0003656_abnormal_erythrocyte_physiolo | 1.13408153 |
| 49 | MP0005257_abnormal_intraocular_pressure | 1.11573689 |
| 50 | MP0001879_abnormal_lymphatic_vessel | 1.10983041 |
| 51 | MP0004019_abnormal_vitamin_homeostasis | 1.08669346 |
| 52 | MP0004084_abnormal_cardiac_muscle | 1.08589444 |
| 53 | MP0003632_abnormal_nervous_system | 1.07087363 |
| 54 | MP0001243_abnormal_dermal_layer | 1.06270053 |
| 55 | MP0005390_skeleton_phenotype | 1.04872529 |
| 56 | MP0002168_other_aberrant_phenotype | 1.04811531 |
| 57 | MP0001542_abnormal_bone_strength | 1.04707048 |
| 58 | MP0000750_abnormal_muscle_regeneration | 1.03878067 |
| 59 | MP0005164_abnormal_response_to | 1.02741005 |
| 60 | MP0010771_integument_phenotype | 1.01142918 |
| 61 | MP0003091_abnormal_cell_migration | 1.00760049 |
| 62 | MP0006082_CNS_inflammation | 0.98160454 |
| 63 | MP0000343_altered_response_to | 0.98017956 |
| 64 | MP0004883_abnormal_blood_vessel | 0.97601387 |
| 65 | MP0002060_abnormal_skin_morphology | 0.95911474 |
| 66 | MP0006276_abnormal_autonomic_nervous | 0.95269237 |
| 67 | MP0005409_darkened_coat_color | 0.95095384 |
| 68 | MP0003303_peritoneal_inflammation | 0.94159979 |
| 69 | * MP0002272_abnormal_nervous_system | 0.93801338 |
| 70 | MP0005408_hypopigmentation | 0.93242925 |
| 71 | MP0009840_abnormal_foam_cell | 0.91309687 |
| 72 | MP0009250_abnormal_appendicular_skeleto | 0.90847193 |
| 73 | MP0003828_pulmonary_edema | 0.90489726 |
| 74 | MP0002998_abnormal_bone_remodeling | 0.90269917 |
| 75 | MP0002971_abnormal_brown_adipose | 0.88931314 |
| 76 | MP0005388_respiratory_system_phenotype | 0.88107663 |
| 77 | MP0002133_abnormal_respiratory_system | 0.88107663 |
| 78 | MP0001270_distended_abdomen | 0.87926281 |
| 79 | MP0003011_delayed_dark_adaptation | 0.87235022 |
| 80 | MP0003191_abnormal_cellular_cholesterol | 0.87128438 |
| 81 | MP0003724_increased_susceptibility_to | 0.86728740 |
| 82 | MP0006054_spinal_hemorrhage | 0.86347515 |
| 83 | MP0000249_abnormal_blood_vessel | 0.86205520 |
| 84 | MP0005620_abnormal_muscle_contractility | 0.86203070 |
| 85 | MP0000372_irregular_coat_pigmentation | 0.84883839 |
| 86 | MP0000767_abnormal_smooth_muscle | 0.84469723 |
| 87 | MP0005330_cardiomyopathy | 0.84399995 |
| 88 | MP0005595_abnormal_vascular_smooth | 0.83964526 |
| 89 | MP0004036_abnormal_muscle_relaxation | 0.83307938 |
| 90 | MP0005023_abnormal_wound_healing | 0.83083007 |
| 91 | MP0004215_abnormal_myocardial_fiber | 0.83028634 |
| 92 | MP0001661_extended_life_span | 0.82204308 |
| 93 | * MP0000749_muscle_degeneration | 0.82156676 |
| 94 | * MP0000747_muscle_weakness | 0.80842133 |
| 95 | MP0010368_abnormal_lymphatic_system | 0.80650600 |
| 96 | MP0003075_altered_response_to | 0.79542355 |
| 97 | * MP0002067_abnormal_sensory_capabilities | 0.78782218 |
| 98 | MP0005167_abnormal_blood-brain_barrier | 0.78537667 |
| 99 | MP0003300_gastrointestinal_ulcer | 0.76936166 |
| 100 | MP0008775_abnormal_heart_ventricle | 0.74958461 |
| 101 | MP0000538_abnormal_urinary_bladder | 0.73395726 |
| 102 | MP0001849_ear_inflammation | 0.71801353 |
| 103 | MP0002751_abnormal_autonomic_nervous | 0.71723277 |
| 104 | MP0003172_abnormal_lysosome_physiology | 0.71418272 |
| 105 | MP0002896_abnormal_bone_mineralization | 0.70847720 |
| 106 | MP0010678_abnormal_skin_adnexa | 0.70655736 |
| 107 | MP0005165_increased_susceptibility_to | 0.70584676 |
| 108 | MP0000003_abnormal_adipose_tissue | 0.69685406 |
| 109 | MP0005197_abnormal_uvea_morphology | 0.68723516 |
| 110 | MP0005375_adipose_tissue_phenotype | 0.68647528 |
| 111 | MP0000163_abnormal_cartilage_morphology | 0.68533993 |
| 112 | MP0005166_decreased_susceptibility_to | 0.68279446 |
| 113 | MP0004145_abnormal_muscle_electrophysio | 0.66999419 |
| 114 | MP0000534_abnormal_ureter_morphology | 0.66964488 |
| 115 | MP0004484_altered_response_of | 0.66223773 |
| 116 | MP0010030_abnormal_orbit_morphology | 0.66168501 |
| 117 | MP0002972_abnormal_cardiac_muscle | 0.65983386 |
| 118 | MP0000759_abnormal_skeletal_muscle | 0.64882419 |
| 119 | MP0002938_white_spotting | 0.64322979 |
| 120 | MP0001544_abnormal_cardiovascular_syste | 0.63815918 |
| 121 | MP0005385_cardiovascular_system_phenoty | 0.63815918 |
| 122 | MP0003448_altered_tumor_morphology | 0.63749171 |
| 123 | MP0005365_abnormal_bile_salt | 0.63683756 |
| 124 | MP0000733_abnormal_muscle_development | 0.63555292 |
| 125 | MP0002115_abnormal_skeleton_extremities | 0.62621633 |
| 126 | MP0004087_abnormal_muscle_fiber | 0.62043743 |
| 127 | MP0005369_muscle_phenotype | 0.61909267 |
| 128 | MP0000230_abnormal_systemic_arterial | 0.61494942 |
| 129 | MP0000462_abnormal_digestive_system | 0.61254144 |
| 130 | MP0009115_abnormal_fat_cell | 0.61235425 |
| 131 | MP0001756_abnormal_urination | 0.60565912 |
| 132 | MP0003315_abnormal_perineum_morphology | 0.60129778 |
| 133 | MP0003385_abnormal_body_wall | 0.59741083 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * Termporal pattern (HP:0011008) | 6.27333448 |
| 2 | * Insidious onset (HP:0003587) | 6.27333448 |
| 3 | Peripheral hypomyelination (HP:0007182) | 5.84643958 |
| 4 | * Impaired proprioception (HP:0010831) | 5.76757204 |
| 5 | Upper limb muscle weakness (HP:0003484) | 5.08298583 |
| 6 | * Onion bulb formation (HP:0003383) | 5.08037546 |
| 7 | * Increased CSF protein (HP:0002922) | 4.83941520 |
| 8 | * Action tremor (HP:0002345) | 4.75295781 |
| 9 | * Steppage gait (HP:0003376) | 4.49631149 |
| 10 | * Hammertoe (HP:0001765) | 4.26698295 |
| 11 | * Foot dorsiflexor weakness (HP:0009027) | 4.23560801 |
| 12 | * Decreased number of peripheral myelinated nerve fibers (HP:0003380) | 4.16377167 |
| 13 | * Peripheral demyelination (HP:0011096) | 3.99796129 |
| 14 | Decreased number of large peripheral myelinated nerve fibers (HP:0003387) | 3.96836837 |
| 15 | * Abnormality of the foot musculature (HP:0001436) | 3.80185881 |
| 16 | Premature rupture of membranes (HP:0001788) | 3.77705426 |
| 17 | Abnormal pupillary function (HP:0007686) | 3.68125042 |
| 18 | Abnormality of liposaccharide metabolism (HP:0010968) | 3.64062485 |
| 19 | Abnormality of glycosphingolipid metabolism (HP:0004343) | 3.64062485 |
| 20 | Abnormality of glycolipid metabolism (HP:0010969) | 3.64062485 |
| 21 | * Decreased motor nerve conduction velocity (HP:0003431) | 3.45361427 |
| 22 | Protrusio acetabuli (HP:0003179) | 3.39454406 |
| 23 | Axonal loss (HP:0003447) | 3.33292698 |
| 24 | Nuclear cataract (HP:0100018) | 3.33129422 |
| 25 | Abnormality of glutamine family amino acid metabolism (HP:0010902) | 3.28151520 |
| 26 | Atrophic scars (HP:0001075) | 3.13602802 |
| 27 | White forelock (HP:0002211) | 3.03309217 |
| 28 | Hydroxyprolinuria (HP:0003080) | 3.01837184 |
| 29 | Abnormality of proline metabolism (HP:0010907) | 3.01837184 |
| 30 | Progressive sensorineural hearing impairment (HP:0000408) | 2.85498024 |
| 31 | Patchy hypopigmentation of hair (HP:0011365) | 2.85381067 |
| 32 | Spondylolisthesis (HP:0003302) | 2.84683469 |
| 33 | Fragile skin (HP:0001030) | 2.73689392 |
| 34 | Aortic dissection (HP:0002647) | 2.68631985 |
| 35 | Broad metatarsal (HP:0001783) | 2.65524451 |
| 36 | Hypomagnesemia (HP:0002917) | 2.64788609 |
| 37 | * Postural tremor (HP:0002174) | 2.64565995 |
| 38 | Dysostosis multiplex (HP:0000943) | 2.57925024 |
| 39 | * Distal sensory impairment (HP:0002936) | 2.45786600 |
| 40 | Absent frontal sinuses (HP:0002688) | 2.45711526 |
| 41 | Soft skin (HP:0000977) | 2.42456598 |
| 42 | Neurofibrillary tangles (HP:0002185) | 2.40960397 |
| 43 | * Abnormality of the vocal cords (HP:0008777) | 2.38542027 |
| 44 | Asymmetric septal hypertrophy (HP:0001670) | 2.37866395 |
| 45 | Ankle contracture (HP:0006466) | 2.37384954 |
| 46 | Abnormality of magnesium homeostasis (HP:0004921) | 2.36703391 |
| 47 | Cerebral aneurysm (HP:0004944) | 2.33545157 |
| 48 | Abnormality of complement system (HP:0005339) | 2.31988203 |
| 49 | Vertebral compression fractures (HP:0002953) | 2.31740708 |
| 50 | Bladder diverticulum (HP:0000015) | 2.28312045 |
| 51 | Complement deficiency (HP:0004431) | 2.28249145 |
| 52 | Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204) | 2.27294332 |
| 53 | Thin bony cortex (HP:0002753) | 2.24909898 |
| 54 | Increased cerebral lipofuscin (HP:0011813) | 2.23078913 |
| 55 | Urinary glycosaminoglycan excretion (HP:0003541) | 2.18560755 |
| 56 | Mucopolysacchariduria (HP:0008155) | 2.18560755 |
| 57 | Pulmonary artery stenosis (HP:0004415) | 2.18522592 |
| 58 | Aneurysm (HP:0002617) | 2.16756398 |
| 59 | Mildly elevated creatine phosphokinase (HP:0008180) | 2.16448842 |
| 60 | Abnormality of polysaccharide metabolism (HP:0011012) | 2.16442114 |
| 61 | Abnormality of glycosaminoglycan metabolism (HP:0004371) | 2.16442114 |
| 62 | Abnormality of mucopolysaccharide metabolism (HP:0011020) | 2.16442114 |
| 63 | Aortic aneurysm (HP:0004942) | 2.15002203 |
| 64 | Malnutrition (HP:0004395) | 2.13637494 |
| 65 | Genu recurvatum (HP:0002816) | 2.11729558 |
| 66 | Pheochromocytoma (HP:0002666) | 2.11285135 |
| 67 | Osteolytic defects of the hand bones (HP:0009699) | 2.08627394 |
| 68 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 2.08627394 |
| 69 | Mitral regurgitation (HP:0001653) | 2.08239333 |
| 70 | Supranuclear gaze palsy (HP:0000605) | 2.05014052 |
| 71 | Hyporeflexia of lower limbs (HP:0002600) | 2.04825511 |
| 72 | Myocardial infarction (HP:0001658) | 2.04814148 |
| 73 | Spinal rigidity (HP:0003306) | 2.04805309 |
| 74 | Systemic lupus erythematosus (HP:0002725) | 2.04588964 |
| 75 | Increased neuronal autofluorescent lipopigment (HP:0002074) | 2.04385725 |
| 76 | Abnormality of dentin (HP:0010299) | 2.02642971 |
| 77 | Wide anterior fontanel (HP:0000260) | 2.01981714 |
| 78 | Amyloidosis (HP:0011034) | 2.00637371 |
| 79 | Vascular tortuosity (HP:0004948) | 2.00480231 |
| 80 | * Ulnar claw (HP:0001178) | 11.5043607 |
| 81 | * Segmental peripheral demyelination/remyelination (HP:0003481) | 10.0779546 |
| 82 | Submucous cleft hard palate (HP:0000176) | 1.99551473 |
| 83 | Ovoid vertebral bodies (HP:0003300) | 1.96950359 |
| 84 | Zonular cataract (HP:0010920) | 1.96351087 |
| 85 | Wormian bones (HP:0002645) | 1.96044844 |
| 86 | Loss of speech (HP:0002371) | 1.95673497 |
| 87 | Difficulty walking (HP:0002355) | 1.92999520 |
| 88 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 1.92897456 |
| 89 | Progressive hearing impairment (HP:0001730) | 1.92676233 |
| 90 | Aortic regurgitation (HP:0001659) | 1.92653893 |
| 91 | Peritonitis (HP:0002586) | 1.90458358 |
| 92 | Follicular hyperkeratosis (HP:0007502) | 1.90239106 |
| 93 | Abnormality of skeletal muscle fiber size (HP:0012084) | 1.89897470 |
| 94 | Primitive reflexes (palmomental, snout, glabellar) (HP:0002476) | 1.89348590 |
| 95 | Cupped ribs (HP:0000887) | 1.88380529 |
| 96 | Slender build (HP:0001533) | 1.87081094 |
| 97 | Striae distensae (HP:0001065) | 1.84326303 |
| 98 | Thoracolumbar scoliosis (HP:0002944) | 1.83515199 |
| 99 | Abnormality of calcium-phosphate metabolism (HP:0100530) | 1.83096506 |
| 100 | Distal lower limb muscle weakness (HP:0009053) | 1.83077202 |
| 101 | Mitral stenosis (HP:0001718) | 1.82262748 |
| 102 | Bowel diverticulosis (HP:0005222) | 1.80356658 |
| 103 | Distal arthrogryposis (HP:0005684) | 1.80053281 |
| 104 | Dilatation of the ascending aorta (HP:0005111) | 1.79873259 |
| 105 | Bundle branch block (HP:0011710) | 1.79605625 |
| 106 | Muscle fiber splitting (HP:0003555) | 1.78343890 |
| 107 | Neuroendocrine neoplasm (HP:0100634) | 1.77275468 |
| 108 | Aortic valve stenosis (HP:0001650) | 1.77027542 |
| 109 | Femoral bowing (HP:0002980) | 1.76856752 |
| 110 | Joint stiffness (HP:0001387) | 1.75575337 |
| 111 | Ulnar bowing (HP:0003031) | 1.75247729 |
| 112 | Limited hip movement (HP:0008800) | 1.75212328 |
| 113 | Distal upper limb amyotrophy (HP:0007149) | 1.74944224 |
| 114 | Upper limb amyotrophy (HP:0009129) | 1.74944224 |
| 115 | Aplasia/Hypoplasia involving the sinuses (HP:0009120) | 1.74441139 |
| 116 | Hyperextensible skin (HP:0000974) | 1.73985292 |
| 117 | Mitral valve prolapse (HP:0001634) | 1.73892603 |
| 118 | Tibial bowing (HP:0002982) | 1.73697713 |
| 119 | Shallow orbits (HP:0000586) | 1.73070632 |
| 120 | Skin nodule (HP:0200036) | 1.72475869 |
| 121 | Abnormality of the vasculature of the conjunctiva (HP:0008054) | 1.71848328 |
| 122 | Neonatal short-limb short stature (HP:0008921) | 1.69812892 |
| 123 | Generalized amyotrophy (HP:0003700) | 1.69786699 |
| 124 | Delayed cranial suture closure (HP:0000270) | 1.69742908 |
| 125 | Protuberant abdomen (HP:0001538) | 1.69592348 |
| 126 | Disproportionate tall stature (HP:0001519) | 1.69348055 |
| 127 | Congenital sensorineural hearing impairment (HP:0008527) | 1.69145368 |
| 128 | Cerebral inclusion bodies (HP:0100314) | 1.67358408 |
| 129 | Increased connective tissue (HP:0009025) | 1.66608221 |
| 130 | Increased variability in muscle fiber diameter (HP:0003557) | 1.66200012 |
| 131 | Ectopia lentis (HP:0001083) | 1.65876718 |
| 132 | Arterial tortuosity (HP:0005116) | 1.65332291 |
| 133 | Increased corneal curvature (HP:0100692) | 1.64506761 |
| 134 | Keratoconus (HP:0000563) | 1.64506761 |
| 135 | Bone cyst (HP:0012062) | 1.64198247 |
| 136 | Conjunctival telangiectasia (HP:0000524) | 1.63545237 |
| 137 | Osteoarthritis (HP:0002758) | 1.63053903 |
| 138 | Wrist flexion contracture (HP:0001239) | 1.63007894 |
| 139 | Pterygium (HP:0001059) | 1.62790626 |
| 140 | Camptodactyly of toe (HP:0001836) | 1.62591778 |
| 141 | Hypoplasia of the iris (HP:0007676) | 1.60746727 |
| 142 | Overgrowth (HP:0001548) | 1.60629806 |
| 143 | Abnormal auditory evoked potentials (HP:0006958) | 1.58968572 |
| 144 | * Kyphoscoliosis (HP:0002751) | 1.57223753 |
| 145 | Cervical subluxation (HP:0003308) | 1.55311261 |
| 146 | Alopecia of scalp (HP:0002293) | 1.54400220 |
| 147 | Myotonia (HP:0002486) | 1.52641202 |
| 148 | Vacuolated lymphocytes (HP:0001922) | 1.52171395 |
| 149 | Lumbar hyperlordosis (HP:0002938) | 1.51800503 |
| 150 | Cerebral hemorrhage (HP:0001342) | 1.51382771 |
| 151 | Blue sclerae (HP:0000592) | 1.50597345 |
| 152 | Hypercortisolism (HP:0001578) | 1.49495998 |
| 153 | Metaphyseal dysplasia (HP:0100255) | 1.47761447 |
| 154 | Ankle clonus (HP:0011448) | 1.47716418 |
| 155 | Hypoventilation (HP:0002791) | 1.47202784 |
| 156 | Difficulty running (HP:0009046) | 1.47131179 |
| 157 | Autoamputation (HP:0001218) | 1.45768337 |
| 158 | Glomerulonephritis (HP:0000099) | 1.45535516 |
| 159 | Bradycardia (HP:0001662) | 1.44817713 |
| 160 | Type 1 muscle fiber predominance (HP:0003803) | 1.44034348 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EPHB1 | 3.85277350 |
| 2 | MAPKAPK5 | 3.13491633 |
| 3 | STK39 | 2.96575495 |
| 4 | NTRK1 | 2.94027833 |
| 5 | PDK2 | 2.90146786 |
| 6 | LIMK1 | 2.86542149 |
| 7 | LMTK2 | 2.46621595 |
| 8 | KSR2 | 2.41446990 |
| 9 | MAP3K2 | 2.27539673 |
| 10 | IRAK2 | 2.10622597 |
| 11 | MET | 2.10538365 |
| 12 | RET | 1.98743728 |
| 13 | EPHA3 | 1.92029588 |
| 14 | TGFBR2 | 1.90504774 |
| 15 | RIPK4 | 1.74607133 |
| 16 | IRAK1 | 1.74364685 |
| 17 | MAP3K12 | 1.74055858 |
| 18 | DDR2 | 1.66459438 |
| 19 | ABL2 | 1.66003001 |
| 20 | MAP3K3 | 1.63496446 |
| 21 | PAK4 | 1.61399658 |
| 22 | ACVR1B | 1.60090957 |
| 23 | MST1R | 1.57316692 |
| 24 | PBK | 1.56467906 |
| 25 | WNK4 | 1.52844661 |
| 26 | FER | 1.50604570 |
| 27 | TNIK | 1.45744127 |
| 28 | IRAK3 | 1.43122292 |
| 29 | EPHB2 | 1.40469466 |
| 30 | MST4 | 1.38512381 |
| 31 | PTK2B | 1.35435823 |
| 32 | WNK1 | 1.32478291 |
| 33 | PRKD3 | 1.28345900 |
| 34 | GRK5 | 1.26800768 |
| 35 | MATK | 1.22197850 |
| 36 | MAP2K1 | 1.21630265 |
| 37 | MAP2K2 | 1.19403104 |
| 38 | TYK2 | 1.18193223 |
| 39 | CDC42BPA | 1.17373096 |
| 40 | FGFR2 | 1.15484987 |
| 41 | SGK223 | 1.14455954 |
| 42 | SGK494 | 1.14455954 |
| 43 | PIM2 | 1.10313040 |
| 44 | CAMK1D | 1.09571588 |
| 45 | STK24 | 1.08754658 |
| 46 | TESK1 | 1.07906154 |
| 47 | NME2 | 1.04113257 |
| 48 | MAPKAPK3 | 1.03150791 |
| 49 | LATS2 | 1.03107789 |
| 50 | PIK3CA | 1.02993898 |
| 51 | UHMK1 | 1.01200812 |
| 52 | ERBB4 | 1.00101942 |
| 53 | NEK9 | 0.99533065 |
| 54 | PHKG1 | 0.98813868 |
| 55 | PHKG2 | 0.98813868 |
| 56 | PRKG2 | 0.98006629 |
| 57 | TRPM7 | 0.97736550 |
| 58 | MUSK | 0.95434379 |
| 59 | TTN | 0.92751735 |
| 60 | BMX | 0.92418114 |
| 61 | PTK2 | 0.91792382 |
| 62 | MAPK7 | 0.90880798 |
| 63 | PAK6 | 0.89976565 |
| 64 | MINK1 | 0.89161719 |
| 65 | MAP3K1 | 0.88968727 |
| 66 | CAMK1G | 0.87578409 |
| 67 | PDGFRA | 0.86659840 |
| 68 | ROCK2 | 0.86622411 |
| 69 | PRKD1 | 0.84043760 |
| 70 | CAMK2B | 0.83881768 |
| 71 | GSK3A | 0.81805307 |
| 72 | ERBB2 | 0.81600450 |
| 73 | TRIB3 | 0.81490789 |
| 74 | LRRK2 | 0.81093049 |
| 75 | PRKCE | 0.80510664 |
| 76 | PLK2 | 0.80350720 |
| 77 | ARAF | 0.79947578 |
| 78 | CAMKK2 | 0.76962501 |
| 79 | RPS6KA2 | 0.75682686 |
| 80 | ROCK1 | 0.75443783 |
| 81 | MARK3 | 0.73292754 |
| 82 | BLK | 0.71156785 |
| 83 | PDGFRB | 0.70644719 |
| 84 | DAPK3 | 0.70145608 |
| 85 | PRPF4B | 0.70042650 |
| 86 | SIK3 | 0.69741046 |
| 87 | CAMK2D | 0.69477732 |
| 88 | MAPK12 | 0.69099209 |
| 89 | TIE1 | 0.68500475 |
| 90 | TESK2 | 0.68329565 |
| 91 | RIPK1 | 0.67931838 |
| 92 | PKN1 | 0.67433727 |
| 93 | MYLK | 0.66250892 |
| 94 | EPHA2 | 0.64601443 |
| 95 | TBK1 | 0.62789839 |
| 96 | NEK6 | 0.61583782 |
| 97 | TAOK2 | 0.61509676 |
| 98 | BCR | 0.61296881 |
| 99 | SRC | 0.60760282 |
| 100 | GRK7 | 0.59622252 |
| 101 | ERN1 | 0.58550644 |
| 102 | MOS | 0.57928028 |
| 103 | MAPK4 | 0.57140753 |
| 104 | CDK14 | 0.56417002 |
| 105 | PTK6 | 0.55200547 |
| 106 | PAK3 | 0.55052961 |
| 107 | SIK1 | 0.54620861 |
| 108 | MARK2 | 0.54530357 |
| 109 | MAPKAPK2 | 0.53829630 |
| 110 | YES1 | 0.52925082 |
| 111 | JAK1 | 0.52435825 |
| 112 | FYN | 0.52169747 |
| 113 | CAMK2A | 0.51291195 |
| 114 | FGFR3 | 0.50918587 |
| 115 | FGFR4 | 0.49074305 |
| 116 | CDK5 | 0.48327304 |
| 117 | ADRBK1 | 0.47917748 |
| 118 | DMPK | 0.47875970 |
| 119 | NEK1 | 0.46274451 |
| 120 | TYRO3 | 0.46156083 |
| 121 | NLK | 0.45574132 |
| 122 | PRKCH | 0.45078590 |
| 123 | PAK2 | 0.43940065 |
| 124 | FRK | 0.43294283 |
| 125 | ILK | 0.42970681 |
| 126 | BMPR1B | 0.42899396 |
| 127 | IGF1R | 0.42178720 |
| 128 | PRKAA2 | 0.42120209 |
| 129 | PDPK1 | 0.41681982 |
| 130 | PKN2 | 0.41466763 |
| 131 | CAMK2G | 0.40146053 |
| 132 | INSR | 0.40053187 |
| 133 | MARK1 | 0.40034654 |
| 134 | PRKD2 | 0.38077619 |
| 135 | EPHA4 | 0.37594779 |
| 136 | STK38 | 0.37342039 |
| 137 | CDK18 | 0.32428058 |
| 138 | PRKACG | 0.31170133 |
| 139 | NTRK3 | 0.30957560 |
| 140 | ABL1 | 0.29741685 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Steroid biosynthesis_Homo sapiens_hsa00100 | 2.70308925 |
| 2 | ECM-receptor interaction_Homo sapiens_hsa04512 | 2.48710251 |
| 3 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 2.46203796 |
| 4 | PPAR signaling pathway_Homo sapiens_hsa03320 | 2.00884840 |
| 5 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.94108062 |
| 6 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.85562095 |
| 7 | Lysosome_Homo sapiens_hsa04142 | 1.81854334 |
| 8 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.76714533 |
| 9 | Mineral absorption_Homo sapiens_hsa04978 | 1.71489491 |
| 10 | Galactose metabolism_Homo sapiens_hsa00052 | 1.65284221 |
| 11 | Phagosome_Homo sapiens_hsa04145 | 1.61974032 |
| 12 | Amoebiasis_Homo sapiens_hsa05146 | 1.59878161 |
| 13 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.58739099 |
| 14 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.58595629 |
| 15 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 1.54132068 |
| 16 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.53260419 |
| 17 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 1.50943374 |
| 18 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.49155051 |
| 19 | Focal adhesion_Homo sapiens_hsa04510 | 1.49116203 |
| 20 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 1.38892642 |
| 21 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.32063725 |
| 22 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.31217091 |
| 23 | Salmonella infection_Homo sapiens_hsa05132 | 1.30481057 |
| 24 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.29047687 |
| 25 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.24808858 |
| 26 | Malaria_Homo sapiens_hsa05144 | 1.23888191 |
| 27 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 1.23602325 |
| 28 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 1.23373227 |
| 29 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 1.22919688 |
| 30 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 1.20766548 |
| 31 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 1.19123356 |
| 32 | Pertussis_Homo sapiens_hsa05133 | 1.17112708 |
| 33 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.14982086 |
| 34 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 1.14845752 |
| 35 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 1.14834537 |
| 36 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 1.14631238 |
| 37 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.14389856 |
| 38 | Viral myocarditis_Homo sapiens_hsa05416 | 1.13213796 |
| 39 | Axon guidance_Homo sapiens_hsa04360 | 1.12426402 |
| 40 | Toxoplasmosis_Homo sapiens_hsa05145 | 1.09957241 |
| 41 | Renin-angiotensin system_Homo sapiens_hsa04614 | 1.09363086 |
| 42 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.06743712 |
| 43 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 1.06546249 |
| 44 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.05046251 |
| 45 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.04050122 |
| 46 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 1.03116357 |
| 47 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 1.02630066 |
| 48 | Endocytosis_Homo sapiens_hsa04144 | 1.01735387 |
| 49 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 1.01016623 |
| 50 | Prion diseases_Homo sapiens_hsa05020 | 0.99991739 |
| 51 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.97879745 |
| 52 | Bile secretion_Homo sapiens_hsa04976 | 0.96896775 |
| 53 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.96536497 |
| 54 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.95608775 |
| 55 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.94492251 |
| 56 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.89878659 |
| 57 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.88503587 |
| 58 | Melanoma_Homo sapiens_hsa05218 | 0.88127430 |
| 59 | Tight junction_Homo sapiens_hsa04530 | 0.87686392 |
| 60 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.86833016 |
| 61 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.85670016 |
| 62 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.85453407 |
| 63 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.84347612 |
| 64 | Leishmaniasis_Homo sapiens_hsa05140 | 0.83761691 |
| 65 | Glioma_Homo sapiens_hsa05214 | 0.83596476 |
| 66 | Platelet activation_Homo sapiens_hsa04611 | 0.83470255 |
| 67 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.81317351 |
| 68 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 0.80850876 |
| 69 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.78986688 |
| 70 | Tuberculosis_Homo sapiens_hsa05152 | 0.77497080 |
| 71 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.76906441 |
| 72 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.76179449 |
| 73 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.75863481 |
| 74 | Adherens junction_Homo sapiens_hsa04520 | 0.74469907 |
| 75 | Thyroid cancer_Homo sapiens_hsa05216 | 0.73778671 |
| 76 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.73613486 |
| 77 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.73568856 |
| 78 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 0.73363086 |
| 79 | Osteoclast differentiation_Homo sapiens_hsa04380 | 0.73169979 |
| 80 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.72633471 |
| 81 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.72277779 |
| 82 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.71892161 |
| 83 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.70999849 |
| 84 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.70967629 |
| 85 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.70750405 |
| 86 | Gap junction_Homo sapiens_hsa04540 | 0.70101198 |
| 87 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.68403891 |
| 88 | Shigellosis_Homo sapiens_hsa05131 | 0.67821634 |
| 89 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.67279917 |
| 90 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.66676710 |
| 91 | Salivary secretion_Homo sapiens_hsa04970 | 0.66104929 |
| 92 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.64983024 |
| 93 | Renin secretion_Homo sapiens_hsa04924 | 0.63923553 |
| 94 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.62862608 |
| 95 | Other glycan degradation_Homo sapiens_hsa00511 | 0.61781400 |
| 96 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.61653502 |
| 97 | Histidine metabolism_Homo sapiens_hsa00340 | 0.61485026 |
| 98 | Long-term depression_Homo sapiens_hsa04730 | 0.61365449 |
| 99 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.61205831 |
| 100 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.61113795 |
| 101 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.61072273 |
| 102 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.60643692 |
| 103 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.60377845 |
| 104 | Melanogenesis_Homo sapiens_hsa04916 | 0.60109666 |
| 105 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.59578916 |
| 106 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 0.59544779 |
| 107 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.59047878 |
| 108 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.58254706 |
| 109 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.57257243 |
| 110 | Cocaine addiction_Homo sapiens_hsa05030 | 0.57129675 |
| 111 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.56422295 |
| 112 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.56169103 |
| 113 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.55620009 |
| 114 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.54522789 |
| 115 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.54383633 |
| 116 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.52672750 |
| 117 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.52327487 |
| 118 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.52001185 |
| 119 | Hepatitis C_Homo sapiens_hsa05160 | 0.51675934 |
| 120 | Pathways in cancer_Homo sapiens_hsa05200 | 0.51012479 |
| 121 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.50708947 |
| 122 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.50429449 |
| 123 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.50088936 |
| 124 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.49777820 |
| 125 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.49301476 |
| 126 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.48701247 |
| 127 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.48580545 |
| 128 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.48196415 |
| 129 | Endometrial cancer_Homo sapiens_hsa05213 | 0.48054141 |
| 130 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.46138973 |
| 131 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.45323591 |
| 132 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.44859068 |
| 133 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.41324401 |
| 134 | Bladder cancer_Homo sapiens_hsa05219 | 0.41178043 |
| 135 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.39137371 |
| 136 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.38587487 |
| 137 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.36527946 |
| 138 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.35997762 |
| 139 | Insulin resistance_Homo sapiens_hsa04931 | 0.35398967 |

