

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | desmosome organization (GO:0002934) | 7.09767776 |
| 2 | L-phenylalanine catabolic process (GO:0006559) | 5.66509482 |
| 3 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222) | 5.66509482 |
| 4 | L-phenylalanine metabolic process (GO:0006558) | 5.52552485 |
| 5 | erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221) | 5.52552485 |
| 6 | intestinal cholesterol absorption (GO:0030299) | 5.41330417 |
| 7 | hemidesmosome assembly (GO:0031581) | 5.20045204 |
| 8 | cysteine metabolic process (GO:0006534) | 5.08875929 |
| 9 | aromatic amino acid family catabolic process (GO:0009074) | 4.97336610 |
| 10 | intestinal absorption (GO:0050892) | 4.96597643 |
| 11 | sulfur amino acid catabolic process (GO:0000098) | 4.91222657 |
| 12 | triglyceride-rich lipoprotein particle remodeling (GO:0034370) | 4.72516877 |
| 13 | glyoxylate metabolic process (GO:0046487) | 4.66301254 |
| 14 | regulation of cholesterol homeostasis (GO:2000188) | 4.60904607 |
| 15 | homocysteine metabolic process (GO:0050667) | 4.59405981 |
| 16 | tryptophan catabolic process (GO:0006569) | 4.53439956 |
| 17 | indole-containing compound catabolic process (GO:0042436) | 4.53439956 |
| 18 | indolalkylamine catabolic process (GO:0046218) | 4.53439956 |
| 19 | drug catabolic process (GO:0042737) | 4.50885647 |
| 20 | kynurenine metabolic process (GO:0070189) | 4.42773431 |
| 21 | lysine metabolic process (GO:0006553) | 4.40132808 |
| 22 | lysine catabolic process (GO:0006554) | 4.40132808 |
| 23 | drug transmembrane transport (GO:0006855) | 4.38225265 |
| 24 | urea metabolic process (GO:0019627) | 4.32580415 |
| 25 | urea cycle (GO:0000050) | 4.32580415 |
| 26 | fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540) | 4.28791914 |
| 27 | tryptophan metabolic process (GO:0006568) | 4.28431783 |
| 28 | high-density lipoprotein particle remodeling (GO:0034375) | 4.18869928 |
| 29 | regulation of bile acid biosynthetic process (GO:0070857) | 4.16428173 |
| 30 | bile acid biosynthetic process (GO:0006699) | 4.11566360 |
| 31 | regulation of triglyceride catabolic process (GO:0010896) | 4.04449721 |
| 32 | urate metabolic process (GO:0046415) | 4.03415891 |
| 33 | phospholipid efflux (GO:0033700) | 4.00733012 |
| 34 | alpha-linolenic acid metabolic process (GO:0036109) | 3.96444840 |
| 35 | negative regulation of sterol transport (GO:0032372) | 3.94286063 |
| 36 | negative regulation of cholesterol transport (GO:0032375) | 3.94286063 |
| 37 | nitrogen cycle metabolic process (GO:0071941) | 3.93869938 |
| 38 | amino-acid betaine metabolic process (GO:0006577) | 3.93120308 |
| 39 | bile acid and bile salt transport (GO:0015721) | 3.92699023 |
| 40 | flavonoid metabolic process (GO:0009812) | 3.90603685 |
| 41 | reverse cholesterol transport (GO:0043691) | 3.90503307 |
| 42 | cellular glucuronidation (GO:0052695) | 3.83143791 |
| 43 | regulation of cholesterol esterification (GO:0010872) | 3.83110483 |
| 44 | regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081) | 3.79764888 |
| 45 | COPI coating of Golgi vesicle (GO:0048205) | 3.79537932 |
| 46 | Golgi transport vesicle coating (GO:0048200) | 3.79537932 |
| 47 | bundle of His cell to Purkinje myocyte communication (GO:0086069) | 3.79380887 |
| 48 | serine family amino acid catabolic process (GO:0009071) | 3.78145994 |
| 49 | bile acid metabolic process (GO:0008206) | 3.77515187 |
| 50 | cellular modified amino acid catabolic process (GO:0042219) | 3.77099684 |
| 51 | acylglycerol homeostasis (GO:0055090) | 3.74203728 |
| 52 | triglyceride homeostasis (GO:0070328) | 3.74203728 |
| 53 | epithelial cell-cell adhesion (GO:0090136) | 3.74000629 |
| 54 | drug transport (GO:0015893) | 3.73816045 |
| 55 | proline metabolic process (GO:0006560) | 3.69884010 |
| 56 | exogenous drug catabolic process (GO:0042738) | 3.67849562 |
| 57 | peptidyl-glutamic acid carboxylation (GO:0017187) | 3.66917129 |
| 58 | protein carboxylation (GO:0018214) | 3.66917129 |
| 59 | regulation of protein activation cascade (GO:2000257) | 3.64650053 |
| 60 | negative regulation of fibrinolysis (GO:0051918) | 3.62955845 |
| 61 | regulation of cholesterol biosynthetic process (GO:0045540) | 3.62228828 |
| 62 | proline biosynthetic process (GO:0006561) | 3.60966550 |
| 63 | aromatic amino acid family metabolic process (GO:0009072) | 3.59364349 |
| 64 | protein-lipid complex remodeling (GO:0034368) | 3.57937351 |
| 65 | macromolecular complex remodeling (GO:0034367) | 3.57937351 |
| 66 | plasma lipoprotein particle remodeling (GO:0034369) | 3.57937351 |
| 67 | complement activation, alternative pathway (GO:0006957) | 3.57875686 |
| 68 | lipoprotein metabolic process (GO:0042157) | 3.56772351 |
| 69 | cholesterol homeostasis (GO:0042632) | 3.56081022 |
| 70 | sterol homeostasis (GO:0055092) | 3.53910102 |
| 71 | imidazole-containing compound metabolic process (GO:0052803) | 3.53636077 |
| 72 | regulation of water loss via skin (GO:0033561) | 3.51907480 |
| 73 | positive regulation of triglyceride lipase activity (GO:0061365) | 3.50747274 |
| 74 | positive regulation of lipoprotein lipase activity (GO:0051006) | 3.50747274 |
| 75 | plasma lipoprotein particle assembly (GO:0034377) | 3.47469873 |
| 76 | multicellular organismal water homeostasis (GO:0050891) | 3.47128623 |
| 77 | glucuronate metabolic process (GO:0019585) | 3.47094202 |
| 78 | uronic acid metabolic process (GO:0006063) | 3.47094202 |
| 79 | epoxygenase P450 pathway (GO:0019373) | 3.46180885 |
| 80 | cholesterol efflux (GO:0033344) | 3.45666579 |
| 81 | regulation of complement activation (GO:0030449) | 3.44585587 |
| 82 | glutamate metabolic process (GO:0006536) | 3.43260180 |
| 83 | phospholipid homeostasis (GO:0055091) | 3.42417983 |
| 84 | alpha-amino acid catabolic process (GO:1901606) | 3.40840838 |
| 85 | regulation of fibrinolysis (GO:0051917) | 3.39447382 |
| 86 | regulation of cholesterol metabolic process (GO:0090181) | 3.39043803 |
| 87 | lung epithelium development (GO:0060428) | 3.36460963 |
| 88 | angiotensin maturation (GO:0002003) | 3.35097073 |
| 89 | hormone catabolic process (GO:0042447) | 3.32378558 |
| 90 | cellular amino acid catabolic process (GO:0009063) | 3.32186383 |
| 91 | activation of Rac GTPase activity (GO:0032863) | 3.30890239 |
| 92 | protein retention in ER lumen (GO:0006621) | 3.29101056 |
| 93 | short-chain fatty acid metabolic process (GO:0046459) | 3.28982729 |
| 94 | positive regulation of Cdc42 GTPase activity (GO:0043089) | 3.27221361 |
| 95 | serine family amino acid metabolic process (GO:0009069) | 3.26672251 |
| 96 | drug metabolic process (GO:0017144) | 3.25305875 |
| 97 | protein-lipid complex assembly (GO:0065005) | 3.24504981 |
| 98 | establishment of skin barrier (GO:0061436) | 3.24277518 |
| 99 | ethanol oxidation (GO:0006069) | 3.23549697 |
| 100 | plasma lipoprotein particle clearance (GO:0034381) | 3.23193476 |
| 101 | fatty acid beta-oxidation (GO:0006635) | 3.22171668 |
| 102 | benzene-containing compound metabolic process (GO:0042537) | 3.21047493 |
| 103 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 3.20391631 |
| 104 | fatty acid oxidation (GO:0019395) | 3.19190956 |
| 105 | cellular ketone body metabolic process (GO:0046950) | 3.18054046 |
| 106 | indolalkylamine metabolic process (GO:0006586) | 3.17413548 |
| 107 | cell-substrate junction assembly (GO:0007044) | 3.17192210 |
| 108 | regulation of apoptotic cell clearance (GO:2000425) | 3.16253022 |
| 109 | tyrosine metabolic process (GO:0006570) | 3.14654839 |
| 110 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 3.13010884 |
| 111 | peptide catabolic process (GO:0043171) | 3.12981146 |
| 112 | very-low-density lipoprotein particle assembly (GO:0034379) | 3.11882016 |
| 113 | lipid oxidation (GO:0034440) | 3.11488861 |
| 114 | semaphorin-plexin signaling pathway (GO:0071526) | 3.10599143 |
| 115 | cell-cell junction maintenance (GO:0045217) | 3.09683994 |
| 116 | positive regulation of fatty acid biosynthetic process (GO:0045723) | 3.08546374 |
| 117 | response to nitrosative stress (GO:0051409) | 3.07097905 |
| 118 | NADH metabolic process (GO:0006734) | 3.06704161 |
| 119 | fatty acid catabolic process (GO:0009062) | 3.04165011 |
| 120 | glutamine family amino acid biosynthetic process (GO:0009084) | 3.03892737 |
| 121 | response to mercury ion (GO:0046689) | 3.02920225 |
| 122 | branching involved in mammary gland duct morphogenesis (GO:0060444) | 3.01921004 |
| 123 | positive regulation of triglyceride metabolic process (GO:0090208) | 3.01493058 |
| 124 | organic acid catabolic process (GO:0016054) | 3.00807453 |
| 125 | carboxylic acid catabolic process (GO:0046395) | 3.00807453 |
| 126 | renal system process involved in regulation of systemic arterial blood pressure (GO:0003071) | 3.00794483 |
| 127 | carnitine metabolic process (GO:0009437) | 3.00044190 |
| 128 | negative regulation of fatty acid transport (GO:2000192) | 2.99035776 |
| 129 | regulation of extracellular matrix disassembly (GO:0010715) | 2.98792106 |
| 130 | ethanol metabolic process (GO:0006067) | 2.97915134 |
| 131 | aspartate family amino acid catabolic process (GO:0009068) | 2.97372921 |
| 132 | basement membrane organization (GO:0071711) | 2.87026151 |
| 133 | water homeostasis (GO:0030104) | 2.80698713 |
| 134 | GDP-mannose metabolic process (GO:0019673) | 2.79140434 |
| 135 | gap junction assembly (GO:0016264) | 2.79068922 |
| 136 | glucose 6-phosphate metabolic process (GO:0051156) | 2.78579578 |
| 137 | surfactant homeostasis (GO:0043129) | 2.78460583 |
| 138 | renal system process involved in regulation of blood volume (GO:0001977) | 2.78407418 |
| 139 | primary alcohol catabolic process (GO:0034310) | 2.78192714 |
| 140 | cytoskeletal anchoring at plasma membrane (GO:0007016) | 2.75271246 |
| 141 | actin filament depolymerization (GO:0030042) | 2.74069075 |
| 142 | retrograde vesicle-mediated transport, Golgi to ER (GO:0006890) | 2.73326503 |
| 143 | regulation of plasminogen activation (GO:0010755) | 2.70672137 |
| 144 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 2.70569743 |
| 145 | plasma lipoprotein particle organization (GO:0071827) | 2.70560941 |
| 146 | vitamin transmembrane transport (GO:0035461) | 2.68854373 |
| 147 | regulation of extracellular matrix organization (GO:1903053) | 2.67352177 |
| 148 | calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338) | 2.66883033 |
| 149 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 2.66443550 |
| 150 | fructose metabolic process (GO:0006000) | 2.65345057 |
| 151 | diacylglycerol metabolic process (GO:0046339) | 2.64372642 |
| 152 | establishment of apical/basal cell polarity (GO:0035089) | 2.63816502 |
| 153 | positive regulation of lipid catabolic process (GO:0050996) | 2.61974881 |
| 154 | cell junction maintenance (GO:0034331) | 2.61920815 |
| 155 | atrioventricular valve morphogenesis (GO:0003181) | 2.60930601 |
| 156 | phosphate ion transmembrane transport (GO:0035435) | 2.60541384 |
| 157 | negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067) | 2.60258054 |
| 158 | 4-hydroxyproline metabolic process (GO:0019471) | 2.59990163 |
| 159 | protein-lipid complex subunit organization (GO:0071825) | 2.58949057 |
| 160 | cell-substrate adherens junction assembly (GO:0007045) | 2.55447838 |
| 161 | focal adhesion assembly (GO:0048041) | 2.55447838 |
| 162 | glutathione biosynthetic process (GO:0006750) | 2.55150213 |
| 163 | positive regulation of cellular amine metabolic process (GO:0033240) | 2.54894956 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 8.12217368 |
| 2 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 5.98230028 |
| 3 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 5.47252076 |
| 4 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 5.36712617 |
| 5 | LXR_22158963_ChIP-Seq_LIVER_Mouse | 4.84895392 |
| 6 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 4.18452988 |
| 7 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 3.89226639 |
| 8 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 3.51694127 |
| 9 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 3.18701436 |
| 10 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 3.05222633 |
| 11 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 2.50827146 |
| 12 | CDX2_20551321_ChIP-Seq_CACO-2_Human | 2.44524680 |
| 13 | * SOX2_27498859_Chip-Seq_STOMACH_Mouse | 2.44200215 |
| 14 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 2.30174759 |
| 15 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 2.27050731 |
| 16 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 2.24215180 |
| 17 | CEBPB_23403033_ChIP-Seq_LIVER_Mouse | 2.21378419 |
| 18 | CLOCK_20551151_ChIP-Seq_293T_Human | 2.17474274 |
| 19 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 2.05985039 |
| 20 | GATA4_25053715_ChIP-Seq_YYC3_Human | 2.05551174 |
| 21 | STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse | 1.90674503 |
| 22 | * RARG_19884340_ChIP-ChIP_MEFs_Mouse | 1.88412825 |
| 23 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 1.87874100 |
| 24 | EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 1.78697423 |
| 25 | GATA6_25053715_ChIP-Seq_YYC3_Human | 1.76607532 |
| 26 | GATA1_22025678_ChIP-Seq_K562_Human | 1.74250641 |
| 27 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.65978187 |
| 28 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.63985324 |
| 29 | * SOX2_20726797_ChIP-Seq_SW620_Human | 1.63727620 |
| 30 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.61253647 |
| 31 | FOXA2_19822575_ChIP-Seq_HepG2_Human | 1.61149278 |
| 32 | TCF7L2_21901280_ChIP-Seq_H4IIE_Rat | 1.55680171 |
| 33 | KDM2B_26808549_Chip-Seq_SUP-B15_Human | 1.55288652 |
| 34 | * FOXO3_23340844_ChIP-Seq_DLD1_Human | 1.50631657 |
| 35 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.45406769 |
| 36 | KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 1.42843918 |
| 37 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.42272047 |
| 38 | ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 1.41642827 |
| 39 | * KDM2B_26808549_Chip-Seq_K562_Human | 1.40379160 |
| 40 | P68_20966046_ChIP-Seq_HELA_Human | 1.40306715 |
| 41 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.39428670 |
| 42 | * RACK7_27058665_Chip-Seq_MCF-7_Human | 1.38227043 |
| 43 | * HNF4A_19822575_ChIP-Seq_HepG2_Human | 1.37779880 |
| 44 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.37666158 |
| 45 | KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 1.37341438 |
| 46 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.33954261 |
| 47 | * TP53_22127205_ChIP-Seq_IMR90_Human | 1.32153598 |
| 48 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.30195910 |
| 49 | TCF7_22412390_ChIP-Seq_EML_Mouse | 1.28915277 |
| 50 | * KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.28591171 |
| 51 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.27337371 |
| 52 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.27258392 |
| 53 | * SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.27163568 |
| 54 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.26481963 |
| 55 | SREBP2_21459322_ChIP-Seq_LIVER_Mouse | 1.25512546 |
| 56 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.25298949 |
| 57 | RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human | 1.25104425 |
| 58 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.24396167 |
| 59 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 1.22475900 |
| 60 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.22253947 |
| 61 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.21103210 |
| 62 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 1.19863871 |
| 63 | * EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 1.18307274 |
| 64 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.17518044 |
| 65 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.17330149 |
| 66 | FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.16337565 |
| 67 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 1.16083599 |
| 68 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.15308181 |
| 69 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.15230819 |
| 70 | CTCF_27219007_Chip-Seq_ERYTHROID_Human | 1.15118106 |
| 71 | ATF3_27146783_Chip-Seq_COLON_Human | 1.15004788 |
| 72 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.14994591 |
| 73 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 1.14676741 |
| 74 | * KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.14334853 |
| 75 | VDR_21846776_ChIP-Seq_THP-1_Human | 1.14219315 |
| 76 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.13014922 |
| 77 | * NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 1.12675819 |
| 78 | * P63_26484246_Chip-Seq_KERATINOCYTES_Human | 1.11928025 |
| 79 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.11925383 |
| 80 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.10666561 |
| 81 | * ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.10487070 |
| 82 | * FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.09120739 |
| 83 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.07216073 |
| 84 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.07188926 |
| 85 | KDM2B_26808549_Chip-Seq_DND41_Human | 1.05748942 |
| 86 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.04290797 |
| 87 | GATA3_24758297_ChIP-Seq_MCF-7_Human | 1.03491562 |
| 88 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.02356666 |
| 89 | AR_21915096_ChIP-Seq_LNCaP-1F5_Human | 1.02335365 |
| 90 | * BCOR_27268052_Chip-Seq_Bcells_Human | 1.01836239 |
| 91 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.01447291 |
| 92 | RARB_24833708_ChIP-Seq_LIVER_Mouse | 0.99505567 |
| 93 | * FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human | 0.99249273 |
| 94 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 0.97835310 |
| 95 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 0.97501085 |
| 96 | * DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 0.96415535 |
| 97 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 0.95702565 |
| 98 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 0.95623464 |
| 99 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 0.92509699 |
| 100 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 0.89440936 |
| 101 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 0.87086371 |
| 102 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 0.87086371 |
| 103 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 0.85140940 |
| 104 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 0.84080474 |
| 105 | BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 0.82987820 |
| 106 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 0.82008037 |
| 107 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 0.81313413 |
| 108 | BMI1_19503595_ChIP-Seq_MEFsC_Mouse | 0.79203684 |
| 109 | * CREB1_26743006_Chip-Seq_LNCaP_Human | 0.78384680 |
| 110 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 0.77752140 |
| 111 | * FOXA1_25552417_ChIP-Seq_VCAP_Human | 0.76236447 |
| 112 | EGR1_19032775_ChIP-ChIP_M12_Human | 0.75983704 |
| 113 | RXRA_24833708_ChIP-Seq_LIVER_Mouse | 0.75737202 |
| 114 | GATA2_19941826_ChIP-Seq_K562_Human | 0.74404502 |
| 115 | * CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 0.74012830 |
| 116 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 0.72664079 |
| 117 | TCF3_18692474_ChIP-Seq_MEFs_Mouse | 0.72415063 |
| 118 | TP63_22573176_ChIP-Seq_HFKS_Human | 0.71926251 |
| 119 | * TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 0.71352321 |
| 120 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 0.70781321 |
| 121 | * KLF5_25053715_ChIP-Seq_YYC3_Human | 0.70035952 |
| 122 | * POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 0.69187540 |
| 123 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 0.69122014 |
| 124 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 0.68878928 |
| 125 | IRF1_21803131_ChIP-Seq_MONOCYTES_Human | 0.68851775 |
| 126 | AR_21909140_ChIP-Seq_LNCAP_Human | 0.68343889 |
| 127 | GATA3_20176728_ChIP-ChIP_TSCs_Mouse | 0.68113944 |
| 128 | TP63_23658742_ChIP-Seq_EP156T_Human | 0.67054436 |
| 129 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 0.65803867 |
| 130 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 0.64441395 |
| 131 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 0.64441395 |
| 132 | JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.63696534 |
| 133 | GATA1_19941826_ChIP-Seq_K562_Human | 0.63243778 |
| 134 | NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human | 0.62350731 |
| 135 | * P300_27058665_Chip-Seq_ZR-75-30cells_Human | 0.62167811 |
| 136 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.61960003 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005360_urolithiasis | 7.09880860 |
| 2 | MP0002139_abnormal_hepatobiliary_system | 6.25817827 |
| 3 | MP0005085_abnormal_gallbladder_physiolo | 4.88775616 |
| 4 | MP0005365_abnormal_bile_salt | 4.58873709 |
| 5 | MP0008875_abnormal_xenobiotic_pharmacok | 3.90898431 |
| 6 | MP0001666_abnormal_nutrient_absorption | 3.70677576 |
| 7 | MP0003252_abnormal_bile_duct | 3.63747457 |
| 8 | MP0010234_abnormal_vibrissa_follicle | 3.05473369 |
| 9 | MP0003806_abnormal_nucleotide_metabolis | 2.95116652 |
| 10 | MP0009840_abnormal_foam_cell | 2.76636800 |
| 11 | MP0010329_abnormal_lipoprotein_level | 2.75170584 |
| 12 | MP0004019_abnormal_vitamin_homeostasis | 2.69996980 |
| 13 | MP0004264_abnormal_extraembryonic_tissu | 2.69963917 |
| 14 | MP0005409_darkened_coat_color | 2.65011213 |
| 15 | MP0002138_abnormal_hepatobiliary_system | 2.57119587 |
| 16 | MP0005332_abnormal_amino_acid | 2.49745029 |
| 17 | MP0005083_abnormal_biliary_tract | 2.32058401 |
| 18 | MP0003195_calcinosis | 2.31562239 |
| 19 | MP0002796_impaired_skin_barrier | 2.07505508 |
| 20 | MP0003705_abnormal_hypodermis_morpholog | 2.02995376 |
| 21 | MP0003191_abnormal_cellular_cholesterol | 2.01715843 |
| 22 | MP0009643_abnormal_urine_homeostasis | 1.91605498 |
| 23 | MP0002254_reproductive_system_inflammat | 1.91526121 |
| 24 | MP0005257_abnormal_intraocular_pressure | 1.89496925 |
| 25 | MP0000678_abnormal_parathyroid_gland | 1.83281594 |
| 26 | MP0005076_abnormal_cell_differentiation | 1.80829377 |
| 27 | MP0004043_abnormal_pH_regulation | 1.73948229 |
| 28 | MP0002118_abnormal_lipid_homeostasis | 1.62393159 |
| 29 | MP0000609_abnormal_liver_physiology | 1.61656401 |
| 30 | MP0003868_abnormal_feces_composition | 1.59547960 |
| 31 | MP0004858_abnormal_nervous_system | 1.58916049 |
| 32 | MP0005058_abnormal_lysosome_morphology | 1.56779893 |
| 33 | MP0002089_abnormal_postnatal_growth/wei | 1.46083396 |
| 34 | MP0005084_abnormal_gallbladder_morpholo | 1.42029207 |
| 35 | MP0000762_abnormal_tongue_morphology | 1.40785256 |
| 36 | MP0005319_abnormal_enzyme/_coenzyme | 1.39852173 |
| 37 | MP0003300_gastrointestinal_ulcer | 1.38260957 |
| 38 | MP0000003_abnormal_adipose_tissue | 1.34449227 |
| 39 | MP0001756_abnormal_urination | 1.33973806 |
| 40 | MP0009379_abnormal_foot_pigmentation | 1.32365288 |
| 41 | MP0005636_abnormal_mineral_homeostasis | 1.32186022 |
| 42 | MP0008438_abnormal_cutaneous_collagen | 1.28252853 |
| 43 | MP0000462_abnormal_digestive_system | 1.26490623 |
| 44 | MP0000013_abnormal_adipose_tissue | 1.22339430 |
| 45 | MP0005501_abnormal_skin_physiology | 1.22015575 |
| 46 | MP0002249_abnormal_larynx_morphology | 1.18718558 |
| 47 | MP0002098_abnormal_vibrissa_morphology | 1.17221037 |
| 48 | MP0001765_abnormal_ion_homeostasis | 1.16378433 |
| 49 | MP0003879_abnormal_hair_cell | 1.15714311 |
| 50 | MP0001764_abnormal_homeostasis | 1.15168100 |
| 51 | MP0005220_abnormal_exocrine_pancreas | 1.12833685 |
| 52 | MP0002136_abnormal_kidney_physiology | 1.05996805 |
| 53 | MP0003453_abnormal_keratinocyte_physiol | 1.04186529 |
| 54 | MP0000538_abnormal_urinary_bladder | 1.02339128 |
| 55 | MP0005451_abnormal_body_composition | 1.01166301 |
| 56 | MP0005584_abnormal_enzyme/coenzyme_acti | 0.99206652 |
| 57 | MP0005375_adipose_tissue_phenotype | 0.99187251 |
| 58 | MP0008260_abnormal_autophagy | 0.99064229 |
| 59 | MP0002876_abnormal_thyroid_physiology | 0.97154928 |
| 60 | MP0010678_abnormal_skin_adnexa | 0.97108716 |
| 61 | MP0000579_abnormal_nail_morphology | 0.96773641 |
| 62 | MP0002060_abnormal_skin_morphology | 0.96676011 |
| 63 | MP0004185_abnormal_adipocyte_glucose | 0.96562952 |
| 64 | MP0003283_abnormal_digestive_organ | 0.89783018 |
| 65 | MP0003091_abnormal_cell_migration | 0.88760518 |
| 66 | MP0000858_altered_metastatic_potential | 0.88543216 |
| 67 | MP0009931_abnormal_skin_appearance | 0.87877208 |
| 68 | MP0001216_abnormal_epidermal_layer | 0.87593605 |
| 69 | MP0009384_cardiac_valve_regurgitation | 0.87490916 |
| 70 | MP0010030_abnormal_orbit_morphology | 0.84650323 |
| 71 | MP0001958_emphysema | 0.84361760 |
| 72 | MP0000537_abnormal_urethra_morphology | 0.84314992 |
| 73 | MP0000598_abnormal_liver_morphology | 0.84279144 |
| 74 | MP0006054_spinal_hemorrhage | 0.82833849 |
| 75 | MP0001348_abnormal_lacrimal_gland | 0.82686125 |
| 76 | MP0003566_abnormal_cell_adhesion | 0.82065418 |
| 77 | MP0000467_abnormal_esophagus_morphology | 0.80713734 |
| 78 | MP0003866_abnormal_defecation | 0.79409453 |
| 79 | MP0003123_paternal_imprinting | 0.79379367 |
| 80 | MP0010352_gastrointestinal_tract_polyps | 0.79126467 |
| 81 | MP0009053_abnormal_anal_canal | 0.78783773 |
| 82 | MP0005408_hypopigmentation | 0.77483268 |
| 83 | MP0003183_abnormal_peptide_metabolism | 0.76529723 |
| 84 | MP0000627_abnormal_mammary_gland | 0.76331709 |
| 85 | MP0003186_abnormal_redox_activity | 0.75078436 |
| 86 | MP0001664_abnormal_digestion | 0.73882849 |
| 87 | MP0003172_abnormal_lysosome_physiology | 0.73817783 |
| 88 | MP0000377_abnormal_hair_follicle | 0.72190270 |
| 89 | MP0004947_skin_inflammation | 0.72060679 |
| 90 | MP0005275_abnormal_skin_tensile | 0.71412387 |
| 91 | MP0004782_abnormal_surfactant_physiolog | 0.71054161 |
| 92 | MP0009642_abnormal_blood_homeostasis | 0.70737979 |
| 93 | MP0006138_congestive_heart_failure | 0.70242952 |
| 94 | MP0005381_digestive/alimentary_phenotyp | 0.69997009 |
| 95 | MP0000477_abnormal_intestine_morphology | 0.68716430 |
| 96 | MP0002078_abnormal_glucose_homeostasis | 0.67267344 |
| 97 | MP0005377_hearing/vestibular/ear_phenot | 0.66243509 |
| 98 | MP0003878_abnormal_ear_physiology | 0.66243509 |
| 99 | MP0001663_abnormal_digestive_system | 0.65980767 |
| 100 | MP0003638_abnormal_response/metabolism_ | 0.65969979 |
| 101 | MP0001849_ear_inflammation | 0.65515510 |
| 102 | MP0009780_abnormal_chondrocyte_physiolo | 0.64891668 |
| 103 | MP0003011_delayed_dark_adaptation | 0.64473147 |
| 104 | MP0010155_abnormal_intestine_physiology | 0.64402138 |
| 105 | MP0009764_decreased_sensitivity_to | 0.63888635 |
| 106 | MP0003115_abnormal_respiratory_system | 0.62882346 |
| 107 | MP0000534_abnormal_ureter_morphology | 0.62824105 |
| 108 | MP0002928_abnormal_bile_duct | 0.62751873 |
| 109 | MP0001873_stomach_inflammation | 0.60521700 |
| 110 | MP0000367_abnormal_coat/_hair | 0.60491071 |
| 111 | MP0005023_abnormal_wound_healing | 0.60133188 |
| 112 | MP0002896_abnormal_bone_mineralization | 0.59053292 |
| 113 | MP0008004_abnormal_stomach_pH | 0.58425774 |
| 114 | MP0004272_abnormal_basement_membrane | 0.58070082 |
| 115 | MP0002877_abnormal_melanocyte_morpholog | 0.56708766 |
| 116 | MP0005448_abnormal_energy_balance | 0.55904941 |
| 117 | MP0010368_abnormal_lymphatic_system | 0.55624360 |
| 118 | MP0010771_integument_phenotype | 0.55559080 |
| 119 | MP0005666_abnormal_adipose_tissue | 0.55013639 |
| 120 | MP0001944_abnormal_pancreas_morphology | 0.53774960 |
| 121 | MP0003941_abnormal_skin_development | 0.53321262 |
| 122 | MP0000566_synostosis | 0.52919110 |
| 123 | MP0005376_homeostasis/metabolism_phenot | 0.52482541 |
| 124 | MP0001881_abnormal_mammary_gland | 0.52471271 |
| 125 | MP0008469_abnormal_protein_level | 0.52296320 |
| 126 | MP0005670_abnormal_white_adipose | 0.50357512 |
| 127 | MP0002971_abnormal_brown_adipose | 0.49838927 |
| 128 | MP0000427_abnormal_hair_cycle | 0.49812057 |
| 129 | MP0000383_abnormal_hair_follicle | 0.49753050 |
| 130 | MP0009765_abnormal_xenobiotic_induced | 0.49507986 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Intrahepatic cholestasis (HP:0001406) | 5.65500023 |
| 2 | Abnormality of glutamine family amino acid metabolism (HP:0010902) | 5.06615629 |
| 3 | Abnormality of monocarboxylic acid metabolism (HP:0010996) | 5.05957477 |
| 4 | Abnormality of aromatic amino acid family metabolism (HP:0004338) | 5.01343834 |
| 5 | Xanthomatosis (HP:0000991) | 4.84937301 |
| 6 | Hypobetalipoproteinemia (HP:0003563) | 4.74276849 |
| 7 | Deep venous thrombosis (HP:0002625) | 4.44777472 |
| 8 | Hyperglycinuria (HP:0003108) | 4.18746884 |
| 9 | Gout (HP:0001997) | 4.11626613 |
| 10 | Right ventricular cardiomyopathy (HP:0011663) | 4.02040319 |
| 11 | Fat malabsorption (HP:0002630) | 3.81157589 |
| 12 | Hypoglycemic coma (HP:0001325) | 3.80057863 |
| 13 | Abnormality of serine family amino acid metabolism (HP:0010894) | 3.66380942 |
| 14 | Abnormality of glycine metabolism (HP:0010895) | 3.66380942 |
| 15 | Hyperammonemia (HP:0001987) | 3.64661203 |
| 16 | Hypolipoproteinemia (HP:0010981) | 3.60158099 |
| 17 | Malnutrition (HP:0004395) | 3.57911821 |
| 18 | Conjugated hyperbilirubinemia (HP:0002908) | 3.56906383 |
| 19 | Hyperactive renin-angiotensin system (HP:0000841) | 3.56133526 |
| 20 | Abnormality of purine metabolism (HP:0004352) | 3.52609700 |
| 21 | Ketosis (HP:0001946) | 3.49243769 |
| 22 | Hemorrhage of the eye (HP:0011885) | 3.45152566 |
| 23 | Abnormality of sulfur amino acid metabolism (HP:0004339) | 3.43302537 |
| 24 | Prolonged partial thromboplastin time (HP:0003645) | 3.43159070 |
| 25 | Epidermoid cyst (HP:0200040) | 3.34088905 |
| 26 | Abnormality of aspartate family amino acid metabolism (HP:0010899) | 3.28926421 |
| 27 | Hydroxyprolinuria (HP:0003080) | 3.28781886 |
| 28 | Abnormality of proline metabolism (HP:0010907) | 3.28781886 |
| 29 | Ketoacidosis (HP:0001993) | 3.28225924 |
| 30 | Complement deficiency (HP:0004431) | 3.24538456 |
| 31 | Hyperglycinemia (HP:0002154) | 3.21533438 |
| 32 | Abnormality of the level of lipoprotein cholesterol (HP:0010979) | 3.11568715 |
| 33 | Alopecia of scalp (HP:0002293) | 3.08228094 |
| 34 | Abnormality of nucleobase metabolism (HP:0010932) | 3.08226291 |
| 35 | Ileus (HP:0002595) | 3.04453982 |
| 36 | Milia (HP:0001056) | 3.03800661 |
| 37 | Thin bony cortex (HP:0002753) | 3.01764385 |
| 38 | Abnormality of the common coagulation pathway (HP:0010990) | 2.99598278 |
| 39 | Abnormality of chloride homeostasis (HP:0011422) | 2.97410329 |
| 40 | Hypoalphalipoproteinemia (HP:0003233) | 2.95565173 |
| 41 | Atrophic scars (HP:0001075) | 2.93661573 |
| 42 | Hyperlipoproteinemia (HP:0010980) | 2.89549999 |
| 43 | Hyperuricemia (HP:0002149) | 2.89517896 |
| 44 | Increased purine levels (HP:0004368) | 2.89517896 |
| 45 | Broad face (HP:0000283) | 2.89219387 |
| 46 | Abnormality of fatty-acid metabolism (HP:0004359) | 2.87898080 |
| 47 | Cervical subluxation (HP:0003308) | 2.80651816 |
| 48 | Abnormal hair laboratory examination (HP:0003328) | 2.76274275 |
| 49 | Vascular calcification (HP:0004934) | 2.75588617 |
| 50 | Esophageal varix (HP:0002040) | 2.74293109 |
| 51 | Abnormality of the intrinsic pathway (HP:0010989) | 2.73445272 |
| 52 | Alkalosis (HP:0001948) | 2.72087751 |
| 53 | Abnormal tarsal ossification (HP:0008369) | 2.71709083 |
| 54 | Plantar hyperkeratosis (HP:0007556) | 2.65792767 |
| 55 | Glomerulonephritis (HP:0000099) | 2.63582683 |
| 56 | Protrusio acetabuli (HP:0003179) | 2.63354808 |
| 57 | Proximal tubulopathy (HP:0000114) | 2.61881924 |
| 58 | Systemic lupus erythematosus (HP:0002725) | 2.61476933 |
| 59 | Abdominal distention (HP:0003270) | 2.60106910 |
| 60 | Late onset (HP:0003584) | 2.60049156 |
| 61 | Hypoglycemic seizures (HP:0002173) | 2.56968601 |
| 62 | Upper limb amyotrophy (HP:0009129) | 2.55524901 |
| 63 | Distal upper limb amyotrophy (HP:0007149) | 2.55524901 |
| 64 | Advanced eruption of teeth (HP:0006288) | 2.51134141 |
| 65 | Fragile skin (HP:0001030) | 2.48733421 |
| 66 | Abnormality of carpal bone ossification (HP:0006257) | 2.48614294 |
| 67 | Generalized aminoaciduria (HP:0002909) | 2.47626496 |
| 68 | Metabolic acidosis (HP:0001942) | 2.47596456 |
| 69 | Flat acetabular roof (HP:0003180) | 2.45577196 |
| 70 | Cardiovascular calcification (HP:0011915) | 2.43809610 |
| 71 | Metabolic alkalosis (HP:0200114) | 2.42979841 |
| 72 | Abnormality of complement system (HP:0005339) | 2.41861923 |
| 73 | Abnormality of long-chain fatty-acid metabolism (HP:0010964) | 2.41625086 |
| 74 | Hypercholesterolemia (HP:0003124) | 2.39949319 |
| 75 | Nephritis (HP:0000123) | 2.39887941 |
| 76 | Fragile nails (HP:0001808) | 2.39678005 |
| 77 | Steatorrhea (HP:0002570) | 2.38189201 |
| 78 | Joint hemorrhage (HP:0005261) | 2.38142189 |
| 79 | Hyperbilirubinemia (HP:0002904) | 2.37805538 |
| 80 | Acanthocytosis (HP:0001927) | 2.37695977 |
| 81 | Symptomatic seizures (HP:0011145) | 2.37364306 |
| 82 | Bronchomalacia (HP:0002780) | 2.36548380 |
| 83 | Hyperinsulinemic hypoglycemia (HP:0000825) | 2.36299640 |
| 84 | Abnormality of nail color (HP:0100643) | 2.35196022 |
| 85 | Pterygium (HP:0001059) | 2.34443963 |
| 86 | Abnormality of urine glucose concentration (HP:0011016) | 2.31970377 |
| 87 | Glycosuria (HP:0003076) | 2.31970377 |
| 88 | Neonatal death (HP:0003811) | 2.31608006 |
| 89 | Mildly elevated creatine phosphokinase (HP:0008180) | 2.30956889 |
| 90 | Nephrolithiasis (HP:0000787) | 2.29802068 |
| 91 | Stridor (HP:0010307) | 2.27439912 |
| 92 | Dicarboxylic aciduria (HP:0003215) | 2.27092234 |
| 93 | Abnormality of dicarboxylic acid metabolism (HP:0010995) | 2.27092234 |
| 94 | Premature rupture of membranes (HP:0001788) | 2.26800863 |
| 95 | Abnormality of the Achilles tendon (HP:0005109) | 2.26749690 |
| 96 | Dehydration (HP:0001944) | 2.26047733 |
| 97 | Abnormality of methionine metabolism (HP:0010901) | 2.25352234 |
| 98 | Hypokalemic alkalosis (HP:0001949) | 2.24271340 |
| 99 | Distal lower limb amyotrophy (HP:0008944) | 2.24007733 |
| 100 | Rickets (HP:0002748) | 2.22656942 |
| 101 | Protuberant abdomen (HP:0001538) | 2.22182999 |
| 102 | Hepatocellular carcinoma (HP:0001402) | 2.20844077 |
| 103 | Abnormality of pyrimidine metabolism (HP:0004353) | 2.19459472 |
| 104 | Abnormal ossification of hand bones (HP:0005921) | 2.19286675 |
| 105 | Nail dystrophy (HP:0008404) | 2.18699741 |
| 106 | Distal lower limb muscle weakness (HP:0009053) | 2.18225899 |
| 107 | Cerebral aneurysm (HP:0004944) | 2.17861048 |
| 108 | Palmoplantar hyperkeratosis (HP:0000972) | 2.17153766 |
| 109 | Widely patent fontanelles and sutures (HP:0004492) | 2.15469014 |
| 110 | Abnormal cartilage morphology (HP:0002763) | 2.15006439 |
| 111 | Natal tooth (HP:0000695) | 2.14759419 |
| 112 | Potter facies (HP:0002009) | 2.12697462 |
| 113 | Facial shape deformation (HP:0011334) | 2.12697462 |
| 114 | Abnormal enzyme/coenzyme activity (HP:0012379) | 2.09463492 |
| 115 | Ulnar bowing (HP:0003031) | 2.08654230 |
| 116 | Short nail (HP:0001799) | 2.08289346 |
| 117 | Abnormality of vitamin metabolism (HP:0100508) | 2.07953920 |
| 118 | Hypoplasia of dental enamel (HP:0006297) | 2.07749461 |
| 119 | J-shaped sella turcica (HP:0002680) | 2.07263358 |
| 120 | Delayed CNS myelination (HP:0002188) | 2.07213799 |
| 121 | Abnormality of the distal phalanges of the toes (HP:0010182) | 2.05403965 |
| 122 | Lethargy (HP:0001254) | 2.05250658 |
| 123 | Hyperglycemia (HP:0003074) | 2.04469894 |
| 124 | Skin nodule (HP:0200036) | 2.03489633 |
| 125 | Irritability (HP:0000737) | 2.02200858 |
| 126 | Glomerulosclerosis (HP:0000096) | 2.01261991 |
| 127 | Acanthosis nigricans (HP:0000956) | 2.00833051 |
| 128 | Myocardial infarction (HP:0001658) | 2.00748946 |
| 129 | Onycholysis (HP:0001806) | 2.00259910 |
| 130 | Confusion (HP:0001289) | 1.99453670 |
| 131 | Hyperacusis (HP:0010780) | 1.99350637 |
| 132 | Pili torti (HP:0003777) | 1.99298395 |
| 133 | Achilles tendon contracture (HP:0001771) | 1.98681266 |
| 134 | Cupped ribs (HP:0000887) | 1.97520043 |
| 135 | Spastic diplegia (HP:0001264) | 1.95180049 |
| 136 | Sensorimotor neuropathy (HP:0007141) | 1.94683368 |
| 137 | Abnormality of alkaline phosphatase activity (HP:0004379) | 1.94057744 |
| 138 | Palmar hyperkeratosis (HP:0010765) | 1.91542802 |
| 139 | Enlarged kidneys (HP:0000105) | 1.91130913 |
| 140 | Focal segmental glomerulosclerosis (HP:0000097) | 1.90903630 |
| 141 | Pancreatitis (HP:0001733) | 1.88784362 |
| 142 | Abnormal foot bone ossification (HP:0010675) | 1.87963807 |
| 143 | Thick nail (HP:0001805) | 1.87826426 |
| 144 | Abnormality of the gastric mucosa (HP:0004295) | 1.87269909 |
| 145 | Abnormal blistering of the skin (HP:0008066) | 1.87238469 |
| 146 | Abnormality of renin-angiotensin system (HP:0000847) | 1.86895494 |
| 147 | Increased connective tissue (HP:0009025) | 1.86561628 |
| 148 | Hypophosphatemia (HP:0002148) | 1.86064488 |
| 149 | Axonal loss (HP:0003447) | 1.85302166 |
| 150 | Obstructive sleep apnea (HP:0002870) | 1.85088695 |
| 151 | Abnormal hand bone ossification (HP:0010660) | 1.82906742 |
| 152 | Asymmetry of the thorax (HP:0001555) | 1.79951105 |
| 153 | Mitral stenosis (HP:0001718) | 1.79078286 |
| 154 | Coxa vara (HP:0002812) | 1.78279116 |
| 155 | Neonatal short-limb short stature (HP:0008921) | 1.76581883 |
| 156 | Hyperparathyroidism (HP:0000843) | 1.73372668 |
| 157 | Menorrhagia (HP:0000132) | 1.71708609 |
| 158 | Hypotrichosis (HP:0001006) | 1.71693741 |
| 159 | Hypotension (HP:0002615) | 1.71218926 |
| 160 | Lymphangioma (HP:0100764) | 1.70671046 |
| 161 | Vertebral compression fractures (HP:0002953) | 1.70666698 |
| 162 | Hand muscle atrophy (HP:0009130) | 1.70420932 |
| 163 | Woolly hair (HP:0002224) | 1.67395557 |
| 164 | Urinary glycosaminoglycan excretion (HP:0003541) | 1.66847259 |
| 165 | Mucopolysacchariduria (HP:0008155) | 1.66847259 |
| 166 | Aneurysm (HP:0002617) | 1.66605060 |
| 167 | Ridged nail (HP:0001807) | 1.66392594 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EPHA2 | 3.98683898 |
| 2 | MST1R | 3.66284712 |
| 3 | ERN1 | 3.62137815 |
| 4 | FRK | 3.28698462 |
| 5 | BCKDK | 2.95004152 |
| 6 | MST4 | 2.78936832 |
| 7 | WNK3 | 2.57073801 |
| 8 | PTK6 | 2.56632533 |
| 9 | FGFR4 | 2.56275016 |
| 10 | WNK4 | 2.55637701 |
| 11 | SIK1 | 2.35659689 |
| 12 | ICK | 2.31264447 |
| 13 | SMG1 | 2.26294151 |
| 14 | MAPK15 | 2.21174222 |
| 15 | LATS1 | 2.17781774 |
| 16 | STK38L | 2.09563379 |
| 17 | RIPK1 | 2.05811299 |
| 18 | LMTK2 | 2.05436556 |
| 19 | MAP3K2 | 2.03924062 |
| 20 | MAP3K3 | 2.03917949 |
| 21 | MAP2K2 | 2.02426896 |
| 22 | MET | 1.86239187 |
| 23 | TRIB3 | 1.85345194 |
| 24 | PRKG2 | 1.84212737 |
| 25 | TAOK3 | 1.75892079 |
| 26 | PTK2 | 1.66537666 |
| 27 | FER | 1.62630179 |
| 28 | INSRR | 1.60763536 |
| 29 | ERBB4 | 1.54210391 |
| 30 | EPHB1 | 1.51159545 |
| 31 | PKN2 | 1.39163278 |
| 32 | MAP3K6 | 1.37293523 |
| 33 | CDK12 | 1.29904472 |
| 34 | EPHB2 | 1.29734590 |
| 35 | PIK3CG | 1.24626231 |
| 36 | OXSR1 | 1.17428629 |
| 37 | MAP3K10 | 1.12092897 |
| 38 | MAP3K7 | 1.10513168 |
| 39 | DYRK1B | 1.09380910 |
| 40 | NME2 | 1.08870953 |
| 41 | DDR2 | 1.05843454 |
| 42 | NME1 | 1.04892764 |
| 43 | MAPKAPK3 | 1.02765236 |
| 44 | MAP2K1 | 1.02507366 |
| 45 | LRRK2 | 1.01781891 |
| 46 | TTN | 1.01217572 |
| 47 | ERBB2 | 1.01046782 |
| 48 | MAPK11 | 1.00962618 |
| 49 | RPS6KB2 | 0.98572756 |
| 50 | GRK6 | 0.94918473 |
| 51 | PRKCI | 0.93374248 |
| 52 | NUAK1 | 0.92748494 |
| 53 | PIK3CA | 0.92372471 |
| 54 | AKT3 | 0.92151423 |
| 55 | PRKD2 | 0.90720843 |
| 56 | LATS2 | 0.90695502 |
| 57 | MAP3K1 | 0.88025339 |
| 58 | RPS6KA2 | 0.83657191 |
| 59 | PAK4 | 0.83049337 |
| 60 | NTRK1 | 0.81662915 |
| 61 | STK10 | 0.81373128 |
| 62 | MUSK | 0.80774505 |
| 63 | MAP3K11 | 0.76774943 |
| 64 | PRKAA2 | 0.74572882 |
| 65 | PDGFRA | 0.74229860 |
| 66 | FLT3 | 0.70356198 |
| 67 | MARK2 | 0.68899043 |
| 68 | TESK1 | 0.66874143 |
| 69 | EPHA3 | 0.64563596 |
| 70 | GSK3A | 0.62867116 |
| 71 | ARAF | 0.62679658 |
| 72 | PIM2 | 0.62317887 |
| 73 | BMX | 0.61614335 |
| 74 | TIE1 | 0.59568247 |
| 75 | MAP2K6 | 0.58401882 |
| 76 | TAOK1 | 0.58302875 |
| 77 | MAP2K3 | 0.58252713 |
| 78 | KSR2 | 0.58064392 |
| 79 | NEK9 | 0.56695944 |
| 80 | TBK1 | 0.54420428 |
| 81 | PAK3 | 0.53658755 |
| 82 | TYK2 | 0.52751932 |
| 83 | MTOR | 0.52098762 |
| 84 | JAK2 | 0.50957701 |
| 85 | STK39 | 0.50542396 |
| 86 | IRAK3 | 0.49674899 |
| 87 | CSK | 0.48463090 |
| 88 | PDGFRB | 0.48275171 |
| 89 | MATK | 0.47943161 |
| 90 | PRKAA1 | 0.47444345 |
| 91 | TESK2 | 0.46828536 |
| 92 | CDK6 | 0.46749559 |
| 93 | MYLK | 0.46534018 |
| 94 | TGFBR2 | 0.44100521 |
| 95 | STK38 | 0.41785348 |
| 96 | PRPF4B | 0.41424949 |
| 97 | CDK7 | 0.40976851 |
| 98 | MAP3K8 | 0.40968974 |
| 99 | STK3 | 0.40932606 |
| 100 | MAP3K9 | 0.38827204 |
| 101 | RPS6KL1 | 0.38645782 |
| 102 | RPS6KC1 | 0.38645782 |
| 103 | PDPK1 | 0.38272283 |
| 104 | MAPKAPK2 | 0.38268562 |
| 105 | ILK | 0.35989252 |
| 106 | HIPK2 | 0.35212390 |
| 107 | TYRO3 | 0.34976019 |
| 108 | CAMK2G | 0.34847094 |
| 109 | TRPM7 | 0.34032947 |
| 110 | SRC | 0.32448287 |
| 111 | CHUK | 0.31205871 |
| 112 | PRKD3 | 0.31150305 |
| 113 | FGFR1 | 0.29247274 |
| 114 | PRKACG | 0.28944355 |
| 115 | IRAK2 | 0.28058786 |
| 116 | MAP3K12 | 0.27791590 |
| 117 | FGFR2 | 0.27727367 |
| 118 | SGK3 | 0.27708992 |
| 119 | RET | 0.27644172 |
| 120 | JAK1 | 0.27385503 |
| 121 | NEK6 | 0.27321917 |
| 122 | PRKCZ | 0.27098884 |
| 123 | PDK2 | 0.26024900 |
| 124 | CDC42BPA | 0.25933407 |
| 125 | DAPK2 | 0.25425859 |
| 126 | KDR | 0.25242074 |
| 127 | GRK1 | 0.24226237 |
| 128 | RPS6KA6 | 0.23498368 |
| 129 | NEK1 | 0.22894377 |
| 130 | FGFR3 | 0.22868408 |
| 131 | EEF2K | 0.22631828 |
| 132 | STK24 | 0.22490247 |
| 133 | DAPK1 | 0.21937733 |
| 134 | ABL2 | 0.21801037 |
| 135 | CAMK2B | 0.21741412 |
| 136 | PDK1 | 0.20916405 |
| 137 | SCYL2 | 0.20430067 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 3.31880533 |
| 2 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 3.29185229 |
| 3 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.89357543 |
| 4 | Tryptophan metabolism_Homo sapiens_hsa00380 | 2.61889106 |
| 5 | Fat digestion and absorption_Homo sapiens_hsa04975 | 2.49073201 |
| 6 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 2.47154684 |
| 7 | Arginine biosynthesis_Homo sapiens_hsa00220 | 2.46695765 |
| 8 | Sulfur metabolism_Homo sapiens_hsa00920 | 2.46482549 |
| 9 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 2.37618770 |
| 10 | Fatty acid degradation_Homo sapiens_hsa00071 | 2.36090987 |
| 11 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.35361783 |
| 12 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 2.28884323 |
| 13 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 2.27580712 |
| 14 | Histidine metabolism_Homo sapiens_hsa00340 | 2.25916213 |
| 15 | Caffeine metabolism_Homo sapiens_hsa00232 | 2.22855079 |
| 16 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.99862390 |
| 17 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 1.94033884 |
| 18 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.92660980 |
| 19 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.92557850 |
| 20 | Bile secretion_Homo sapiens_hsa04976 | 1.91406743 |
| 21 | Peroxisome_Homo sapiens_hsa04146 | 1.80450306 |
| 22 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 1.80144634 |
| 23 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.77924821 |
| 24 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 1.70921088 |
| 25 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.69545958 |
| 26 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 1.68679630 |
| 27 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.67641885 |
| 28 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.67187860 |
| 29 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.62622241 |
| 30 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.59069186 |
| 31 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.59064510 |
| 32 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.57050298 |
| 33 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.56969545 |
| 34 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.55020126 |
| 35 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.47580863 |
| 36 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.43661392 |
| 37 | Retinol metabolism_Homo sapiens_hsa00830 | 1.39668998 |
| 38 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.38328428 |
| 39 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 1.37703652 |
| 40 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 1.36309843 |
| 41 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.35806296 |
| 42 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.30456201 |
| 43 | Mineral absorption_Homo sapiens_hsa04978 | 1.26756950 |
| 44 | ABC transporters_Homo sapiens_hsa02010 | 1.19159659 |
| 45 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 1.18270716 |
| 46 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.17484309 |
| 47 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.13214011 |
| 48 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.13131514 |
| 49 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.12432596 |
| 50 | Carbon metabolism_Homo sapiens_hsa01200 | 1.11743643 |
| 51 | Renin-angiotensin system_Homo sapiens_hsa04614 | 1.04898683 |
| 52 | Notch signaling pathway_Homo sapiens_hsa04330 | 1.04300167 |
| 53 | Galactose metabolism_Homo sapiens_hsa00052 | 1.01832897 |
| 54 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.00956965 |
| 55 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.99219151 |
| 56 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.96243509 |
| 57 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.94256117 |
| 58 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.93006136 |
| 59 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.89972683 |
| 60 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.89500459 |
| 61 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.89230540 |
| 62 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.85391275 |
| 63 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.84135713 |
| 64 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.84002870 |
| 65 | Lysine degradation_Homo sapiens_hsa00310 | 0.83028327 |
| 66 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.82872313 |
| 67 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.81280086 |
| 68 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.77625361 |
| 69 | Focal adhesion_Homo sapiens_hsa04510 | 0.74963219 |
| 70 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.72409984 |
| 71 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.68397961 |
| 72 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.66220879 |
| 73 | Sulfur relay system_Homo sapiens_hsa04122 | 0.65714645 |
| 74 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.63635670 |
| 75 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.63318185 |
| 76 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.60939764 |
| 77 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.59100910 |
| 78 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.58472041 |
| 79 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.56072143 |
| 80 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.55087787 |
| 81 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.51427925 |
| 82 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.51296689 |
| 83 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.50672137 |
| 84 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.49587012 |
| 85 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.45067442 |
| 86 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.44495986 |
| 87 | Metabolic pathways_Homo sapiens_hsa01100 | 0.43161182 |
| 88 | Axon guidance_Homo sapiens_hsa04360 | 0.39580939 |
| 89 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.39279042 |
| 90 | Bladder cancer_Homo sapiens_hsa05219 | 0.39183981 |
| 91 | Insulin resistance_Homo sapiens_hsa04931 | 0.36551212 |
| 92 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.35920242 |
| 93 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.35487911 |
| 94 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.34878607 |
| 95 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.34381702 |
| 96 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.30978685 |
| 97 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.29528253 |
| 98 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.29219518 |
| 99 | Tight junction_Homo sapiens_hsa04530 | 0.26169617 |
| 100 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.23309353 |
| 101 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.22322146 |
| 102 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.21196045 |
| 103 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.20790873 |
| 104 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.17115876 |
| 105 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.16992799 |
| 106 | Other glycan degradation_Homo sapiens_hsa00511 | 0.15749393 |
| 107 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.15220780 |
| 108 | Adherens junction_Homo sapiens_hsa04520 | 0.14855431 |
| 109 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.13816289 |
| 110 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.10858309 |
| 111 | Hepatitis C_Homo sapiens_hsa05160 | 0.09485775 |
| 112 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.09428015 |
| 113 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.06439751 |
| 114 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.06315977 |
| 115 | Prion diseases_Homo sapiens_hsa05020 | 0.05981746 |
| 116 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.05602079 |
| 117 | Amoebiasis_Homo sapiens_hsa05146 | 0.04905477 |
| 118 | Thyroid cancer_Homo sapiens_hsa05216 | 0.04523700 |

