

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | cellular response to leptin stimulus (GO:0044320) | 8.21784297 |
| 2 | oocyte development (GO:0048599) | 7.60085223 |
| 3 | sex determination (GO:0007530) | 7.21654709 |
| 4 | 3-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427) | 7.10775612 |
| 5 | purine ribonucleoside bisphosphate metabolic process (GO:0034035) | 7.10775612 |
| 6 | response to leptin (GO:0044321) | 6.72946247 |
| 7 | sulfate transmembrane transport (GO:1902358) | 6.33232519 |
| 8 | cellular ketone body metabolic process (GO:0046950) | 5.93719652 |
| 9 | flavonoid metabolic process (GO:0009812) | 5.92522937 |
| 10 | activin receptor signaling pathway (GO:0032924) | 5.89202540 |
| 11 | intestinal absorption (GO:0050892) | 5.70724040 |
| 12 | sulfate transport (GO:0008272) | 5.33681819 |
| 13 | sulfur amino acid catabolic process (GO:0000098) | 5.31745243 |
| 14 | ketone body metabolic process (GO:1902224) | 5.12666770 |
| 15 | endothelial cell chemotaxis (GO:0035767) | 4.89774555 |
| 16 | cellular response to follicle-stimulating hormone stimulus (GO:0071372) | 4.86374361 |
| 17 | negative regulation of macrophage differentiation (GO:0045650) | 4.85620082 |
| 18 | bile acid and bile salt transport (GO:0015721) | 4.80751237 |
| 19 | phosphate ion transmembrane transport (GO:0035435) | 4.74807818 |
| 20 | negative regulation of cytokine biosynthetic process (GO:0042036) | 4.69338960 |
| 21 | regulation of guanylate cyclase activity (GO:0031282) | 4.68902809 |
| 22 | drug transmembrane transport (GO:0006855) | 4.64363997 |
| 23 | regulation of cholesterol homeostasis (GO:2000188) | 4.63476610 |
| 24 | negative regulation of sterol transport (GO:0032372) | 4.58496098 |
| 25 | negative regulation of cholesterol transport (GO:0032375) | 4.58496098 |
| 26 | cellular glucuronidation (GO:0052695) | 4.57505528 |
| 27 | ovarian follicle development (GO:0001541) | 4.39594248 |
| 28 | sulfur compound transport (GO:0072348) | 4.37217682 |
| 29 | intestinal cholesterol absorption (GO:0030299) | 4.35707919 |
| 30 | phosphate ion transport (GO:0006817) | 4.29268501 |
| 31 | atrioventricular valve morphogenesis (GO:0003181) | 4.28930718 |
| 32 | regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081) | 4.28332947 |
| 33 | glucuronate metabolic process (GO:0019585) | 4.24385996 |
| 34 | uronic acid metabolic process (GO:0006063) | 4.24385996 |
| 35 | regulation of cardioblast differentiation (GO:0051890) | 4.18553666 |
| 36 | hemoglobin metabolic process (GO:0020027) | 4.17335762 |
| 37 | renal system process involved in regulation of blood volume (GO:0001977) | 4.16200550 |
| 38 | negative regulation of epidermal growth factor-activated receptor activity (GO:0007175) | 4.14607066 |
| 39 | purine nucleoside bisphosphate biosynthetic process (GO:0034033) | 4.12987623 |
| 40 | ribonucleoside bisphosphate biosynthetic process (GO:0034030) | 4.12987623 |
| 41 | nucleoside bisphosphate biosynthetic process (GO:0033866) | 4.12987623 |
| 42 | cellular response to gonadotropin stimulus (GO:0071371) | 4.12035623 |
| 43 | bundle of His cell to Purkinje myocyte communication (GO:0086069) | 4.10209382 |
| 44 | drug catabolic process (GO:0042737) | 4.05303116 |
| 45 | drug transport (GO:0015893) | 4.04438088 |
| 46 | glucocorticoid biosynthetic process (GO:0006704) | 4.03388004 |
| 47 | actin filament depolymerization (GO:0030042) | 4.03310875 |
| 48 | negative regulation of insulin secretion (GO:0046676) | 4.02571323 |
| 49 | cytidine metabolic process (GO:0046087) | 4.02282679 |
| 50 | cytidine catabolic process (GO:0006216) | 4.02282679 |
| 51 | cytidine deamination (GO:0009972) | 4.02282679 |
| 52 | urea cycle (GO:0000050) | 3.96434711 |
| 53 | male sex determination (GO:0030238) | 3.93213955 |
| 54 | gonadal mesoderm development (GO:0007506) | 3.92384757 |
| 55 | cardiac right ventricle morphogenesis (GO:0003215) | 3.88544922 |
| 56 | endocardial cushion development (GO:0003197) | 3.86026535 |
| 57 | Leydig cell differentiation (GO:0033327) | 3.81691934 |
| 58 | urea metabolic process (GO:0019627) | 3.80476473 |
| 59 | negative regulation of peptide hormone secretion (GO:0090278) | 3.78816750 |
| 60 | negative regulation of protein tyrosine kinase activity (GO:0061099) | 3.78536070 |
| 61 | UDP-N-acetylglucosamine metabolic process (GO:0006047) | 3.77832082 |
| 62 | NADH metabolic process (GO:0006734) | 3.71575101 |
| 63 | nucleoside bisphosphate metabolic process (GO:0033865) | 3.71105823 |
| 64 | purine nucleoside bisphosphate metabolic process (GO:0034032) | 3.71105823 |
| 65 | ribonucleoside bisphosphate metabolic process (GO:0033875) | 3.71105823 |
| 66 | regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044) | 3.69892102 |
| 67 | endocrine process (GO:0050886) | 3.69892102 |
| 68 | regulation of systemic arterial blood pressure by hormone (GO:0001990) | 3.69892102 |
| 69 | positive regulation of guanylate cyclase activity (GO:0031284) | 3.68516984 |
| 70 | ovulation cycle process (GO:0022602) | 3.67712452 |
| 71 | negative regulation of peptide secretion (GO:0002792) | 3.66881240 |
| 72 | calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338) | 3.66675433 |
| 73 | ethanol oxidation (GO:0006069) | 3.66570957 |
| 74 | regulation of bile acid biosynthetic process (GO:0070857) | 3.66285735 |
| 75 | estrogen biosynthetic process (GO:0006703) | 3.65577699 |
| 76 | intestinal epithelial cell development (GO:0060576) | 3.64377311 |
| 77 | adhesion of symbiont to host (GO:0044406) | 3.61955345 |
| 78 | regulation of endocrine process (GO:0044060) | 3.60056632 |
| 79 | angiotensin maturation (GO:0002003) | 3.59837069 |
| 80 | cysteine metabolic process (GO:0006534) | 3.57973277 |
| 81 | negative regulation of macroautophagy (GO:0016242) | 3.56592601 |
| 82 | negative regulation of keratinocyte proliferation (GO:0010839) | 3.55166069 |
| 83 | anatomical structure regression (GO:0060033) | 3.54789206 |
| 84 | nucleotide-sugar biosynthetic process (GO:0009226) | 3.52921985 |
| 85 | protein retention in ER lumen (GO:0006621) | 3.51438230 |
| 86 | regulation of transforming growth factor beta2 production (GO:0032909) | 3.51176903 |
| 87 | lysine catabolic process (GO:0006554) | 3.49284589 |
| 88 | lysine metabolic process (GO:0006553) | 3.49284589 |
| 89 | embryonic foregut morphogenesis (GO:0048617) | 3.48440674 |
| 90 | regulation of vitamin metabolic process (GO:0030656) | 3.47085703 |
| 91 | sulfation (GO:0051923) | 3.44947724 |
| 92 | epoxygenase P450 pathway (GO:0019373) | 3.43407512 |
| 93 | renal absorption (GO:0070293) | 3.39962282 |
| 94 | sex differentiation (GO:0007548) | 3.38242049 |
| 95 | alkaloid metabolic process (GO:0009820) | 3.36343179 |
| 96 | desmosome organization (GO:0002934) | 3.35736971 |
| 97 | urogenital system development (GO:0001655) | 3.35690236 |
| 98 | nitrogen cycle metabolic process (GO:0071941) | 3.35271189 |
| 99 | regulation of systemic arterial blood pressure (GO:0003073) | 3.32671061 |
| 100 | positive regulation of fatty acid beta-oxidation (GO:0032000) | 3.32206858 |
| 101 | positive regulation of reproductive process (GO:2000243) | 3.30080887 |
| 102 | homocysteine metabolic process (GO:0050667) | 3.29629015 |
| 103 | urate metabolic process (GO:0046415) | 3.29268705 |
| 104 | modified amino acid transport (GO:0072337) | 3.28681629 |
| 105 | exogenous drug catabolic process (GO:0042738) | 3.27444073 |
| 106 | phosphatidylcholine biosynthetic process (GO:0006656) | 3.26690388 |
| 107 | short-chain fatty acid metabolic process (GO:0046459) | 3.23981829 |
| 108 | galactose metabolic process (GO:0006012) | 3.22913869 |
| 109 | sterol homeostasis (GO:0055092) | 3.21514489 |
| 110 | regulation of autophagic vacuole assembly (GO:2000785) | 3.20885116 |
| 111 | cholesterol homeostasis (GO:0042632) | 3.20440918 |
| 112 | basement membrane organization (GO:0071711) | 3.20391260 |
| 113 | fructose metabolic process (GO:0006000) | 3.19882655 |
| 114 | gap junction assembly (GO:0016264) | 3.18650230 |
| 115 | renal system process involved in regulation of systemic arterial blood pressure (GO:0003071) | 3.18301086 |
| 116 | response to hepatocyte growth factor (GO:0035728) | 3.16765524 |
| 117 | cellular response to hepatocyte growth factor stimulus (GO:0035729) | 3.16765524 |
| 118 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 3.16697294 |
| 119 | phospholipid homeostasis (GO:0055091) | 3.15465798 |
| 120 | response to follicle-stimulating hormone (GO:0032354) | 3.14918650 |
| 121 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 3.13164374 |
| 122 | drug metabolic process (GO:0017144) | 3.12002300 |
| 123 | glutathione metabolic process (GO:0006749) | 3.10339425 |
| 124 | vitamin transmembrane transport (GO:0035461) | 3.03770997 |
| 125 | maintenance of gastrointestinal epithelium (GO:0030277) | 3.00404639 |
| 126 | vitamin A metabolic process (GO:0006776) | 3.00081140 |
| 127 | nucleoside diphosphate biosynthetic process (GO:0009133) | 2.96410592 |
| 128 | glutathione derivative metabolic process (GO:1901685) | 2.96215993 |
| 129 | glutathione derivative biosynthetic process (GO:1901687) | 2.96215993 |
| 130 | galactose catabolic process (GO:0019388) | 2.95231990 |
| 131 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.94045840 |
| 132 | SMAD protein signal transduction (GO:0060395) | 2.93732095 |
| 133 | positive regulation of respiratory burst (GO:0060267) | 2.92693759 |
| 134 | pyrimidine ribonucleoside catabolic process (GO:0046133) | 2.92383837 |
| 135 | glyoxylate metabolic process (GO:0046487) | 2.92381502 |
| 136 | auditory receptor cell differentiation (GO:0042491) | 2.91879367 |
| 137 | steroid hormone mediated signaling pathway (GO:0043401) | 2.90983750 |
| 138 | * embryonic eye morphogenesis (GO:0048048) | 2.90597186 |
| 139 | ethanol metabolic process (GO:0006067) | 2.90289892 |
| 140 | neurotransmitter biosynthetic process (GO:0042136) | 2.90286384 |
| 141 | very-low-density lipoprotein particle assembly (GO:0034379) | 2.89681281 |
| 142 | protein neddylation (GO:0045116) | 2.88563733 |
| 143 | lipoprotein metabolic process (GO:0042157) | 2.87194699 |
| 144 | establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197) | 2.86009726 |
| 145 | fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540) | 2.85252782 |
| 146 | negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067) | 2.84767693 |
| 147 | cytoskeletal anchoring at plasma membrane (GO:0007016) | 2.84570398 |
| 148 | digestive system process (GO:0022600) | 2.84455712 |
| 149 | negative regulation of hormone secretion (GO:0046888) | 2.82223781 |
| 150 | receptor guanylyl cyclase signaling pathway (GO:0007168) | 2.82041865 |
| 151 | arginine metabolic process (GO:0006525) | 2.81912112 |
| 152 | fat-soluble vitamin biosynthetic process (GO:0042362) | 2.81097447 |
| 153 | response to food (GO:0032094) | 2.81094691 |
| 154 | regulation of cGMP biosynthetic process (GO:0030826) | 2.80690739 |
| 155 | citrulline metabolic process (GO:0000052) | 2.80364623 |
| 156 | cardiac muscle hypertrophy in response to stress (GO:0014898) | 2.80257180 |
| 157 | muscle hypertrophy in response to stress (GO:0003299) | 2.80257180 |
| 158 | cardiac muscle adaptation (GO:0014887) | 2.80257180 |
| 159 | cGMP-mediated signaling (GO:0019934) | 2.79573678 |
| 160 | regulation of sterol transport (GO:0032371) | 2.78346223 |
| 161 | regulation of cholesterol transport (GO:0032374) | 2.78346223 |
| 162 | positive regulation of male gonad development (GO:2000020) | 2.77744418 |
| 163 | ATP synthesis coupled proton transport (GO:0015986) | 2.77419198 |
| 164 | energy coupled proton transport, down electrochemical gradient (GO:0015985) | 2.77419198 |
| 165 | glutamine family amino acid biosynthetic process (GO:0009084) | 2.77248414 |
| 166 | glucose 6-phosphate metabolic process (GO:0051156) | 2.75051278 |
| 167 | regulation of cholesterol storage (GO:0010885) | 2.74883541 |
| 168 | positive regulation of prostaglandin secretion (GO:0032308) | 2.74750348 |
| 169 | pyrimidine-containing compound transmembrane transport (GO:0072531) | 2.74602667 |
| 170 | proline biosynthetic process (GO:0006561) | 2.74133967 |
| 171 | sphingomyelin metabolic process (GO:0006684) | 2.73836179 |
| 172 | hormone catabolic process (GO:0042447) | 2.71678470 |
| 173 | positive regulation of epidermal cell differentiation (GO:0045606) | 2.70946527 |
| 174 | female gonad development (GO:0008585) | 2.70644225 |
| 175 | vitamin transport (GO:0051180) | 2.69452847 |
| 176 | positive regulation of lipoprotein lipase activity (GO:0051006) | 2.68682637 |
| 177 | positive regulation of triglyceride lipase activity (GO:0061365) | 2.68682637 |
| 178 | regulation of gonadotropin secretion (GO:0032276) | 15.5248974 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 6.73355249 |
| 2 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 4.73921536 |
| 3 | CDX2_20551321_ChIP-Seq_CACO-2_Human | 3.93627296 |
| 4 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 3.52191793 |
| 5 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 3.51899540 |
| 6 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 3.46777447 |
| 7 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 3.27008848 |
| 8 | * SOX2_27498859_Chip-Seq_STOMACH_Mouse | 3.16314615 |
| 9 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 3.04292838 |
| 10 | LXR_22158963_ChIP-Seq_LIVER_Mouse | 2.77133632 |
| 11 | HNF4A_19761587_ChIP-ChIP_CACO-2_Human | 2.57113176 |
| 12 | SRY_22984422_ChIP-ChIP_TESTIS_Rat | 2.49644222 |
| 13 | SOX2_20726797_ChIP-Seq_SW620_Human | 2.34845694 |
| 14 | * GATA4_25053715_ChIP-Seq_YYC3_Human | 2.30756358 |
| 15 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 2.28891994 |
| 16 | * EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 2.27415451 |
| 17 | ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 2.27031376 |
| 18 | NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 2.26375307 |
| 19 | GATA6_25053715_ChIP-Seq_YYC3_Human | 2.16572882 |
| 20 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 2.11035019 |
| 21 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 1.93874486 |
| 22 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 1.90039146 |
| 23 | STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse | 1.86538418 |
| 24 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 1.81895343 |
| 25 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.81855371 |
| 26 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 1.71051763 |
| 27 | CLOCK_20551151_ChIP-Seq_293T_Human | 1.70597884 |
| 28 | RACK7_27058665_Chip-Seq_MCF-7_Human | 1.70221456 |
| 29 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.69190141 |
| 30 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.66123411 |
| 31 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.65847993 |
| 32 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.64782977 |
| 33 | BMI1_19503595_ChIP-Seq_MEFsC_Mouse | 1.63278607 |
| 34 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 1.62925644 |
| 35 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.61371908 |
| 36 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.61209422 |
| 37 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 1.60829003 |
| 38 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 1.58570123 |
| 39 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.58123688 |
| 40 | TCF7L2_21901280_ChIP-Seq_H4IIE_Rat | 1.54803560 |
| 41 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.52985027 |
| 42 | VDR_22108803_ChIP-Seq_LS180_Human | 1.50931718 |
| 43 | * JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse | 1.49191992 |
| 44 | KDM2B_26808549_Chip-Seq_K562_Human | 1.48021678 |
| 45 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.47095492 |
| 46 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.46222214 |
| 47 | EGR1_19032775_ChIP-ChIP_M12_Human | 1.41341540 |
| 48 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 1.40856656 |
| 49 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.40789492 |
| 50 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.38806767 |
| 51 | KLF5_25053715_ChIP-Seq_YYC3_Human | 1.33003172 |
| 52 | ATF3_27146783_Chip-Seq_COLON_Human | 1.32538969 |
| 53 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.32074509 |
| 54 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.31835306 |
| 55 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.30413525 |
| 56 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.30126105 |
| 57 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.29370499 |
| 58 | CEBPA_23403033_ChIP-Seq_LIVER_Mouse | 1.28578298 |
| 59 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 1.27632909 |
| 60 | CREB1_26743006_Chip-Seq_LNCaP_Human | 1.26958700 |
| 61 | KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 1.23546769 |
| 62 | IRF1_21803131_ChIP-Seq_MONOCYTES_Human | 1.22937185 |
| 63 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 1.22406808 |
| 64 | FOXA1_25552417_ChIP-Seq_VCAP_Human | 1.22178753 |
| 65 | * SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.21375408 |
| 66 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.20838953 |
| 67 | CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human | 1.20604292 |
| 68 | * RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.19686902 |
| 69 | * EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.19686902 |
| 70 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.19189086 |
| 71 | FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.17779586 |
| 72 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.17504415 |
| 73 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.16988741 |
| 74 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.16589839 |
| 75 | ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.15641832 |
| 76 | OCT4_18692474_ChIP-Seq_MEFs_Mouse | 1.14803272 |
| 77 | HNF4A_19822575_ChIP-Seq_HepG2_Human | 1.13470408 |
| 78 | VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human | 1.12825732 |
| 79 | AR_21915096_ChIP-Seq_LNCaP-1F5_Human | 1.12804898 |
| 80 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.12590229 |
| 81 | ESRRB_18555785_ChIP-Seq_MESCs_Mouse | 1.10863991 |
| 82 | * ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.10366996 |
| 83 | IKZF1_21737484_ChIP-ChIP_HCT116_Human | 1.09700398 |
| 84 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.09614226 |
| 85 | FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human | 1.09524505 |
| 86 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.09109209 |
| 87 | * EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.05856572 |
| 88 | TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.05657757 |
| 89 | * CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 1.04849557 |
| 90 | GATA3_24758297_ChIP-Seq_MCF-7_Human | 1.00873832 |
| 91 | TCF3_18692474_ChIP-Seq_MEFs_Mouse | 0.99169556 |
| 92 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 0.98492667 |
| 93 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.98328518 |
| 94 | TET1_21451524_ChIP-Seq_MESCs_Mouse | 0.98192318 |
| 95 | * PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 0.98179414 |
| 96 | SMC4_20622854_ChIP-Seq_HELA_Human | 0.98004188 |
| 97 | GATA2_19941826_ChIP-Seq_K562_Human | 0.97569630 |
| 98 | FOXA2_19822575_ChIP-Seq_HepG2_Human | 0.96504728 |
| 99 | POU5F1_16518401_ChIP-PET_MESCs_Mouse | 0.96150138 |
| 100 | FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.95686343 |
| 101 | TCF7_22412390_ChIP-Seq_EML_Mouse | 0.95382768 |
| 102 | KDM2B_26808549_Chip-Seq_SUP-B15_Human | 0.95133883 |
| 103 | MYC_27129775_Chip-Seq_CORNEA_Mouse | 0.94739599 |
| 104 | * CTCF_27219007_Chip-Seq_ERYTHROID_Human | 0.94514728 |
| 105 | GATA1_19941826_ChIP-Seq_K562_Human | 0.94419003 |
| 106 | TP63_22573176_ChIP-Seq_HFKS_Human | 0.94219284 |
| 107 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 0.94189637 |
| 108 | * TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 0.94047111 |
| 109 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 0.93694660 |
| 110 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 0.92662718 |
| 111 | GATA3_20176728_ChIP-ChIP_TSCs_Mouse | 0.92609368 |
| 112 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 0.92601285 |
| 113 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.92444782 |
| 114 | SMC1_22415368_ChIP-Seq_MEFs_Mouse | 0.92348833 |
| 115 | BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 0.92274270 |
| 116 | RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human | 0.92237444 |
| 117 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 0.92131790 |
| 118 | EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 0.91944048 |
| 119 | TAF2_19829295_ChIP-Seq_ESCs_Human | 0.91869310 |
| 120 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 0.91635390 |
| 121 | NANOG_18692474_ChIP-Seq_MEFs_Mouse | 0.91381656 |
| 122 | SMAD3_21741376_ChIP-Seq_HESCs_Human | 0.90740988 |
| 123 | MYC_19915707_ChIP-ChIP_AK7_Human | 0.90465383 |
| 124 | RXR_22108803_ChIP-Seq_LS180_Human | 0.89681270 |
| 125 | * MTF2_20144788_ChIP-Seq_MESCs_Mouse | 0.89138808 |
| 126 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 0.87035765 |
| 127 | * SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 0.86054219 |
| 128 | ZNF263_19887448_ChIP-Seq_K562_Human | 0.84029581 |
| 129 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 0.83020312 |
| 130 | NANOG_20526341_ChIP-Seq_ESCs_Human | 0.82875212 |
| 131 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 0.82573356 |
| 132 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 0.82573356 |
| 133 | SA1_27219007_Chip-Seq_Bcells_Human | 0.82297551 |
| 134 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 0.82290891 |
| 135 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 0.82251914 |
| 136 | BCOR_27268052_Chip-Seq_Bcells_Human | 0.80135914 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0002822_catalepsy | 6.79680695 |
| 2 | MP0005360_urolithiasis | 5.73772948 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 5.36160439 |
| 4 | MP0003878_abnormal_ear_physiology | 5.36160439 |
| 5 | MP0010234_abnormal_vibrissa_follicle | 4.62384982 |
| 6 | MP0008875_abnormal_xenobiotic_pharmacok | 3.88052234 |
| 7 | MP0002139_abnormal_hepatobiliary_system | 3.86645904 |
| 8 | MP0001666_abnormal_nutrient_absorption | 3.71600425 |
| 9 | MP0005167_abnormal_blood-brain_barrier | 3.41058539 |
| 10 | MP0005085_abnormal_gallbladder_physiolo | 2.80392860 |
| 11 | MP0004019_abnormal_vitamin_homeostasis | 2.75354829 |
| 12 | MP0003011_delayed_dark_adaptation | 2.59511071 |
| 13 | MP0003315_abnormal_perineum_morphology | 2.48801225 |
| 14 | MP0004264_abnormal_extraembryonic_tissu | 2.31196683 |
| 15 | MP0003045_fibrosis | 2.28667119 |
| 16 | MP0004145_abnormal_muscle_electrophysio | 2.27753736 |
| 17 | MP0008995_early_reproductive_senescence | 2.25087764 |
| 18 | MP0004043_abnormal_pH_regulation | 2.24410947 |
| 19 | MP0004233_abnormal_muscle_weight | 2.20338570 |
| 20 | MP0005365_abnormal_bile_salt | 2.16957275 |
| 21 | MP0000566_synostosis | 2.14081535 |
| 22 | MP0003191_abnormal_cellular_cholesterol | 2.04571545 |
| 23 | MP0001661_extended_life_span | 1.98963769 |
| 24 | MP0009643_abnormal_urine_homeostasis | 1.90592277 |
| 25 | MP0003866_abnormal_defecation | 1.84888414 |
| 26 | * MP0000462_abnormal_digestive_system | 1.81835370 |
| 27 | MP0001765_abnormal_ion_homeostasis | 1.81352726 |
| 28 | MP0003183_abnormal_peptide_metabolism | 1.77546233 |
| 29 | MP0003252_abnormal_bile_duct | 1.75820921 |
| 30 | MP0005409_darkened_coat_color | 1.75799535 |
| 31 | MP0009384_cardiac_valve_regurgitation | 1.75450788 |
| 32 | MP0001881_abnormal_mammary_gland | 1.70209593 |
| 33 | MP0005084_abnormal_gallbladder_morpholo | 1.67494540 |
| 34 | MP0003806_abnormal_nucleotide_metabolis | 1.67178515 |
| 35 | MP0001851_eye_inflammation | 1.66834376 |
| 36 | MP0002234_abnormal_pharynx_morphology | 1.65038076 |
| 37 | MP0010329_abnormal_lipoprotein_level | 1.64299173 |
| 38 | MP0009840_abnormal_foam_cell | 1.62091163 |
| 39 | MP0003705_abnormal_hypodermis_morpholog | 1.61467481 |
| 40 | MP0000537_abnormal_urethra_morphology | 1.56562851 |
| 41 | MP0009053_abnormal_anal_canal | 1.56319986 |
| 42 | MP0005636_abnormal_mineral_homeostasis | 1.56037199 |
| 43 | MP0002009_preneoplasia | 1.55265146 |
| 44 | MP0001873_stomach_inflammation | 1.54827861 |
| 45 | MP0005332_abnormal_amino_acid | 1.51429791 |
| 46 | MP0001663_abnormal_digestive_system | 1.50675679 |
| 47 | MP0002168_other_aberrant_phenotype | 1.50431436 |
| 48 | MP0002138_abnormal_hepatobiliary_system | 1.45099659 |
| 49 | MP0004782_abnormal_surfactant_physiolog | 1.44096999 |
| 50 | MP0002909_abnormal_adrenal_gland | 1.42820829 |
| 51 | MP0000538_abnormal_urinary_bladder | 1.42144374 |
| 52 | MP0001756_abnormal_urination | 1.39240973 |
| 53 | MP0009379_abnormal_foot_pigmentation | 1.39187969 |
| 54 | * MP0005381_digestive/alimentary_phenotyp | 1.38269453 |
| 55 | MP0005647_abnormal_sex_gland | 1.37102630 |
| 56 | * MP0000477_abnormal_intestine_morphology | 1.28946776 |
| 57 | MP0002796_impaired_skin_barrier | 1.28220902 |
| 58 | MP0010368_abnormal_lymphatic_system | 1.24647071 |
| 59 | MP0009780_abnormal_chondrocyte_physiolo | 1.24400088 |
| 60 | MP0005395_other_phenotype | 1.24148378 |
| 61 | MP0006138_congestive_heart_failure | 1.21545095 |
| 62 | MP0002166_altered_tumor_susceptibility | 1.21511763 |
| 63 | MP0005076_abnormal_cell_differentiation | 1.20638247 |
| 64 | MP0001664_abnormal_digestion | 1.18392847 |
| 65 | MP0005670_abnormal_white_adipose | 1.17475321 |
| 66 | MP0005451_abnormal_body_composition | 1.17380252 |
| 67 | MP0000678_abnormal_parathyroid_gland | 1.15838280 |
| 68 | MP0008438_abnormal_cutaneous_collagen | 1.13164573 |
| 69 | MP0010352_gastrointestinal_tract_polyps | 1.12575790 |
| 70 | MP0010155_abnormal_intestine_physiology | 1.11989584 |
| 71 | MP0002136_abnormal_kidney_physiology | 1.11506020 |
| 72 | MP0000762_abnormal_tongue_morphology | 1.10157270 |
| 73 | MP0004272_abnormal_basement_membrane | 1.07749991 |
| 74 | * MP0000163_abnormal_cartilage_morphology | 1.05311030 |
| 75 | MP0003195_calcinosis | 1.03148094 |
| 76 | MP0000490_abnormal_crypts_of | 1.02200929 |
| 77 | MP0005058_abnormal_lysosome_morphology | 1.02190916 |
| 78 | MP0000013_abnormal_adipose_tissue | 1.00347468 |
| 79 | MP0002118_abnormal_lipid_homeostasis | 0.99670511 |
| 80 | MP0004134_abnormal_chest_morphology | 0.99666753 |
| 81 | MP0002282_abnormal_trachea_morphology | 0.92379402 |
| 82 | MP0003567_abnormal_fetal_cardiomyocyte | 0.89918849 |
| 83 | MP0003953_abnormal_hormone_level | 0.87215103 |
| 84 | MP0002089_abnormal_postnatal_growth/wei | 0.85575942 |
| 85 | MP0002092_abnormal_eye_morphology | 0.85366141 |
| 86 | MP0000627_abnormal_mammary_gland | 0.84056289 |
| 87 | MP0005623_abnormal_meninges_morphology | 0.83492823 |
| 88 | MP0003566_abnormal_cell_adhesion | 0.83363044 |
| 89 | MP0000609_abnormal_liver_physiology | 0.82374229 |
| 90 | MP0003279_aneurysm | 0.80795311 |
| 91 | MP0001340_abnormal_eyelid_morphology | 0.80320295 |
| 92 | MP0001764_abnormal_homeostasis | 0.79927313 |
| 93 | * MP0002896_abnormal_bone_mineralization | 0.78840134 |
| 94 | MP0002098_abnormal_vibrissa_morphology | 0.78333512 |
| 95 | MP0003718_maternal_effect | 0.77566462 |
| 96 | MP0002006_tumorigenesis | 0.76637191 |
| 97 | * MP0002115_abnormal_skeleton_extremities | 0.75821180 |
| 98 | MP0003868_abnormal_feces_composition | 0.73260907 |
| 99 | MP0003941_abnormal_skin_development | 0.71941609 |
| 100 | MP0004484_altered_response_of | 0.71806017 |
| 101 | MP0004947_skin_inflammation | 0.71367958 |
| 102 | MP0005584_abnormal_enzyme/coenzyme_acti | 0.71349071 |
| 103 | MP0008004_abnormal_stomach_pH | 0.69332559 |
| 104 | MP0003300_gastrointestinal_ulcer | 0.67022464 |
| 105 | MP0005166_decreased_susceptibility_to | 0.66302673 |
| 106 | MP0005319_abnormal_enzyme/_coenzyme | 0.66013868 |
| 107 | MP0003828_pulmonary_edema | 0.65800573 |
| 108 | MP0004858_abnormal_nervous_system | 0.64441237 |
| 109 | MP0001849_ear_inflammation | 0.62497180 |
| 110 | MP0003632_abnormal_nervous_system | 0.62355194 |
| 111 | MP0003646_muscle_fatigue | 0.61625030 |
| 112 | MP0002254_reproductive_system_inflammat | 0.61208694 |
| 113 | MP0005501_abnormal_skin_physiology | 0.59127756 |
| 114 | MP0001529_abnormal_vocalization | 0.58244021 |
| 115 | MP0004185_abnormal_adipocyte_glucose | 0.57406744 |
| 116 | MP0000470_abnormal_stomach_morphology | 0.56761816 |
| 117 | MP0002127_abnormal_cardiovascular_syste | 0.56476778 |
| 118 | * MP0002113_abnormal_skeleton_development | 0.55989118 |
| 119 | * MP0003283_abnormal_digestive_organ | 0.55471006 |
| 120 | MP0001485_abnormal_pinna_reflex | 0.55015599 |
| 121 | MP0002933_joint_inflammation | 0.54713315 |
| 122 | MP0000613_abnormal_salivary_gland | 0.54533575 |
| 123 | MP0009697_abnormal_copulation | 0.53615987 |
| 124 | MP0002998_abnormal_bone_remodeling | 0.52507356 |
| 125 | MP0008873_increased_physiological_sensi | 0.52441864 |
| 126 | MP0010678_abnormal_skin_adnexa | 0.51465076 |
| 127 | MP0003329_amyloid_beta_deposits | 0.51025889 |
| 128 | MP0004147_increased_porphyrin_level | 0.50934318 |
| 129 | MP0001216_abnormal_epidermal_layer | 0.50324349 |
| 130 | MP0000230_abnormal_systemic_arterial | 0.48290614 |
| 131 | MP0000467_abnormal_esophagus_morphology | 0.47078271 |
| 132 | MP0009642_abnormal_blood_homeostasis | 0.44931094 |
| 133 | MP0005666_abnormal_adipose_tissue | 0.44900419 |
| 134 | MP0005310_abnormal_salivary_gland | 0.44678623 |
| 135 | * MP0003795_abnormal_bone_structure | 0.44194477 |
| 136 | MP0003879_abnormal_hair_cell | 0.43360679 |
| 137 | MP0005367_renal/urinary_system_phenotyp | 0.42802443 |
| 138 | MP0000516_abnormal_urinary_system | 0.42802443 |
| 139 | MP0003385_abnormal_body_wall | 0.42796699 |
| 140 | MP0003119_abnormal_digestive_system | 0.42314474 |
| 141 | MP0003638_abnormal_response/metabolism_ | 0.41671493 |
| 142 | MP0005083_abnormal_biliary_tract | 0.41453820 |
| 143 | MP0003453_abnormal_keratinocyte_physiol | 0.40393280 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Gonadal dysgenesis (HP:0000133) | 9.00897179 |
| 2 | Flat acetabular roof (HP:0003180) | 7.53704973 |
| 3 | Neonatal short-limb short stature (HP:0008921) | 6.74648415 |
| 4 | Irregular epiphyses (HP:0010582) | 6.74240774 |
| 5 | Flat capital femoral epiphysis (HP:0003370) | 6.34108179 |
| 6 | Abnormal tarsal ossification (HP:0008369) | 6.28962067 |
| 7 | Flattened epiphyses (HP:0003071) | 4.89203879 |
| 8 | Hypoplasia of the uterus (HP:0000013) | 4.83681247 |
| 9 | Sex reversal (HP:0012245) | 4.68294272 |
| 10 | Abnormal sex determination (HP:0012244) | 4.68294272 |
| 11 | Premature ovarian failure (HP:0008209) | 4.67975497 |
| 12 | Nausea (HP:0002018) | 4.53968544 |
| 13 | Spinal cord compression (HP:0002176) | 4.50284628 |
| 14 | Menstrual irregularities (HP:0000858) | 4.45152007 |
| 15 | Abnormal vertebral ossification (HP:0100569) | 4.45074644 |
| 16 | Vertebral clefting (HP:0008428) | 4.41100604 |
| 17 | Abnormal foot bone ossification (HP:0010675) | 4.28973276 |
| 18 | Metaphyseal cupping (HP:0003021) | 4.22962743 |
| 19 | Osteomalacia (HP:0002749) | 4.12447778 |
| 20 | Delayed epiphyseal ossification (HP:0002663) | 4.10750723 |
| 21 | Decreased circulating renin level (HP:0003351) | 4.04373885 |
| 22 | Abnormal cartilage morphology (HP:0002763) | 4.04136579 |
| 23 | Breech presentation (HP:0001623) | 3.85748009 |
| 24 | Testicular neoplasm (HP:0010788) | 3.80244397 |
| 25 | Hip contracture (HP:0003273) | 3.79010554 |
| 26 | Germ cell neoplasia (HP:0100728) | 3.75277417 |
| 27 | Abnormality of male internal genitalia (HP:0000022) | 3.73690981 |
| 28 | * Cupped ribs (HP:0000887) | 3.73220641 |
| 29 | Protrusio acetabuli (HP:0003179) | 3.70043190 |
| 30 | Ileus (HP:0002595) | 3.61181533 |
| 31 | Abnormality of glutamine family amino acid metabolism (HP:0010902) | 3.56381293 |
| 32 | Metabolic alkalosis (HP:0200114) | 3.53721413 |
| 33 | Epiphyseal dysplasia (HP:0002656) | 3.53487531 |
| 34 | Abdominal distention (HP:0003270) | 3.51499825 |
| 35 | Elevated circulating parathyroid hormone (PTH) level (HP:0003165) | 3.49766691 |
| 36 | Hemorrhage of the eye (HP:0011885) | 3.46094908 |
| 37 | Male infertility (HP:0003251) | 3.43544888 |
| 38 | Aplasia/Hypoplasia of the vertebrae (HP:0008515) | 3.37646465 |
| 39 | Vertebral hypoplasia (HP:0008417) | 3.37646465 |
| 40 | Hyperpituitarism (HP:0010514) | 3.28602491 |
| 41 | * Abnormality of carpal bone ossification (HP:0006257) | 3.28219037 |
| 42 | Hyperactive renin-angiotensin system (HP:0000841) | 3.27423995 |
| 43 | * Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108) | 3.27289878 |
| 44 | Aplasia/hypoplasia of the uterus (HP:0008684) | 3.15782646 |
| 45 | Visceral angiomatosis (HP:0100761) | 3.10857275 |
| 46 | Limited hip movement (HP:0008800) | 3.10367445 |
| 47 | Right ventricular cardiomyopathy (HP:0011663) | 2.99559259 |
| 48 | Secondary amenorrhea (HP:0000869) | 2.97317400 |
| 49 | Wrist flexion contracture (HP:0001239) | 2.97048911 |
| 50 | Posterior subcapsular cataract (HP:0007787) | 2.89174791 |
| 51 | Hemangiomatosis (HP:0007461) | 2.85153435 |
| 52 | Abnormality of chloride homeostasis (HP:0011422) | 2.82083174 |
| 53 | * Abnormality of the epiphysis of the femoral head (HP:0010574) | 2.79122823 |
| 54 | Neonatal death (HP:0003811) | 2.78895033 |
| 55 | * Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 2.76190761 |
| 56 | * Abnormality of femoral epiphyses (HP:0006499) | 2.76190761 |
| 57 | Large earlobe (HP:0009748) | 2.75197639 |
| 58 | Beaking of vertebral bodies (HP:0004568) | 2.74794366 |
| 59 | * Short middle phalanx of finger (HP:0005819) | 2.71849857 |
| 60 | Congenital sensorineural hearing impairment (HP:0008527) | 2.66400111 |
| 61 | * Abnormality of the distal phalanx of the thumb (HP:0009617) | 2.65022395 |
| 62 | Hyperaldosteronism (HP:0000859) | 2.64537524 |
| 63 | Abnormality of proline metabolism (HP:0010907) | 2.63919000 |
| 64 | Hydroxyprolinuria (HP:0003080) | 2.63919000 |
| 65 | Gout (HP:0001997) | 2.62405542 |
| 66 | Male pseudohermaphroditism (HP:0000037) | 2.61534439 |
| 67 | Osteoarthritis (HP:0002758) | 2.60893869 |
| 68 | * Genu varum (HP:0002970) | 2.60464916 |
| 69 | Stillbirth (HP:0003826) | 2.59386661 |
| 70 | Limited elbow extension (HP:0001377) | 2.54395586 |
| 71 | * Lumbar hyperlordosis (HP:0002938) | 2.53768170 |
| 72 | * Aplasia/hypoplasia of the femur (HP:0005613) | 2.53401191 |
| 73 | * Abnormal ossification of hand bones (HP:0005921) | 2.51851547 |
| 74 | Small epiphyses (HP:0010585) | 2.47969756 |
| 75 | * Symphalangism affecting the phalanges of the hand (HP:0009773) | 2.47916968 |
| 76 | * Abnormal hand bone ossification (HP:0010660) | 2.47480995 |
| 77 | Hyperglycinuria (HP:0003108) | 2.46303577 |
| 78 | * Abnormality of the femoral head (HP:0003368) | 2.45723028 |
| 79 | Platyspondyly (HP:0000926) | 2.44530013 |
| 80 | Metaphyseal irregularity (HP:0003025) | 2.44509735 |
| 81 | Hyperuricemia (HP:0002149) | 2.42277354 |
| 82 | Increased purine levels (HP:0004368) | 2.42277354 |
| 83 | Tracheal stenosis (HP:0002777) | 2.42112063 |
| 84 | Hypokalemia (HP:0002900) | 2.41776525 |
| 85 | Primary amenorrhea (HP:0000786) | 2.40334281 |
| 86 | Pili torti (HP:0003777) | 2.38509943 |
| 87 | Hypophosphatemic rickets (HP:0004912) | 2.38281219 |
| 88 | Abnormality of the vitamin B12 metabolism (HP:0004341) | 2.37468214 |
| 89 | Azoospermia (HP:0000027) | 2.35641120 |
| 90 | Malnutrition (HP:0004395) | 2.34599934 |
| 91 | Hyperphosphaturia (HP:0003109) | 2.31613393 |
| 92 | Intrahepatic cholestasis (HP:0001406) | 2.30167745 |
| 93 | Trismus (HP:0000211) | 2.29380547 |
| 94 | Infertility (HP:0000789) | 2.28119870 |
| 95 | Abnormality of purine metabolism (HP:0004352) | 2.26954672 |
| 96 | Abnormality of the acetabulum (HP:0003170) | 2.24607860 |
| 97 | Abnormality of vitamin metabolism (HP:0100508) | 2.22414847 |
| 98 | Hoarse voice (HP:0001609) | 2.21872992 |
| 99 | Abnormality of vitamin B metabolism (HP:0004340) | 2.21523038 |
| 100 | Protuberant abdomen (HP:0001538) | 2.19384716 |
| 101 | Proximal placement of thumb (HP:0009623) | 2.14867507 |
| 102 | Pigmentary retinal degeneration (HP:0001146) | 2.13608155 |
| 103 | Enlarged epiphyses (HP:0010580) | 2.12314292 |
| 104 | Septate vagina (HP:0001153) | 2.10975364 |
| 105 | Tibial bowing (HP:0002982) | 2.10363975 |
| 106 | Deviation of the thumb (HP:0009603) | 2.06692657 |
| 107 | Ventricular fibrillation (HP:0001663) | 2.05949170 |
| 108 | Glycosuria (HP:0003076) | 2.05010972 |
| 109 | Abnormality of urine glucose concentration (HP:0011016) | 2.05010972 |
| 110 | Shawl scrotum (HP:0000049) | 2.04646109 |
| 111 | Hyponatremia (HP:0002902) | 2.04006135 |
| 112 | Abnormality of renin-angiotensin system (HP:0000847) | 2.03699145 |
| 113 | Wormian bones (HP:0002645) | 2.03196295 |
| 114 | Vitreoretinal degeneration (HP:0000655) | 2.02699060 |
| 115 | Alkalosis (HP:0001948) | 2.02093603 |
| 116 | Flat face (HP:0012368) | 2.01065262 |
| 117 | Gonadotropin excess (HP:0000837) | 10.1138321 |
| 118 | Abnormal urine phosphate concentration (HP:0012599) | 1.99512708 |
| 119 | Abnormality of potassium homeostasis (HP:0011042) | 1.99475600 |
| 120 | Back pain (HP:0003418) | 1.99420647 |
| 121 | Metaphyseal dysplasia (HP:0100255) | 1.97797016 |
| 122 | * Coxa vara (HP:0002812) | 1.96574029 |
| 123 | Overgrowth (HP:0001548) | 1.94561317 |
| 124 | Hypoplastic ischia (HP:0003175) | 1.92536866 |
| 125 | Sandal gap (HP:0001852) | 1.91988937 |
| 126 | Systemic lupus erythematosus (HP:0002725) | 1.91308006 |
| 127 | Carpal bone hypoplasia (HP:0001498) | 1.91124325 |
| 128 | * Aplasia/Hypoplasia of the middle phalanges of the hand (HP:0009843) | 1.90820178 |
| 129 | Xanthomatosis (HP:0000991) | 1.87714112 |
| 130 | Hypobetalipoproteinemia (HP:0003563) | 1.87639716 |
| 131 | Late onset (HP:0003584) | 1.86200588 |
| 132 | Abnormality of monocarboxylic acid metabolism (HP:0010996) | 1.85545196 |
| 133 | Abnormality of magnesium homeostasis (HP:0004921) | 1.85250173 |
| 134 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.85005853 |
| 135 | Abnormal hair laboratory examination (HP:0003328) | 1.84641792 |
| 136 | * Aplasia/Hypoplasia involving the pelvis (HP:0009103) | 1.84242462 |
| 137 | Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688) | 1.83648016 |
| 138 | Hypomagnesemia (HP:0002917) | 1.83215431 |
| 139 | Widely patent fontanelles and sutures (HP:0004492) | 1.82125351 |
| 140 | Rickets (HP:0002748) | 1.81289782 |
| 141 | Bone pain (HP:0002653) | 1.81171147 |
| 142 | * Hypoplastic ilia (HP:0000946) | 1.79480665 |
| 143 | Barrel-shaped chest (HP:0001552) | 1.78710390 |
| 144 | Wide cranial sutures (HP:0010537) | 1.78346295 |
| 145 | Villous atrophy (HP:0011473) | 1.77770683 |
| 146 | Abnormality of small intestinal villus morphology (HP:0011472) | 1.77770683 |
| 147 | Hypophosphatemia (HP:0002148) | 1.77275024 |
| 148 | Gastrointestinal dysmotility (HP:0002579) | 1.77224067 |
| 149 | High anterior hairline (HP:0009890) | 1.76887870 |
| 150 | Fat malabsorption (HP:0002630) | 1.76338292 |
| 151 | Hip dysplasia (HP:0001385) | 1.75621172 |
| 152 | Abnormal delivery (HP:0001787) | 1.75568720 |
| 153 | Rectal prolapse (HP:0002035) | 1.75325650 |
| 154 | Abnormality of calcium-phosphate metabolism (HP:0100530) | 1.71917859 |
| 155 | Arachnodactyly (HP:0001166) | 1.71723902 |
| 156 | Decreased number of peripheral myelinated nerve fibers (HP:0003380) | 1.70504779 |
| 157 | Nephrolithiasis (HP:0000787) | 1.69622732 |
| 158 | Primary adrenal insufficiency (HP:0008207) | 1.68168620 |
| 159 | Chronic diarrhea (HP:0002028) | 1.64596832 |
| 160 | Abnormality of alkaline phosphatase activity (HP:0004379) | 1.64112550 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TAOK3 | 8.42278003 |
| 2 | MST1R | 7.52674056 |
| 3 | PRPF4B | 6.79816256 |
| 4 | TAOK2 | 4.02825745 |
| 5 | EPHB2 | 3.99976559 |
| 6 | PIK3CA | 3.53202373 |
| 7 | ACVR1B | 3.28875664 |
| 8 | MAP2K2 | 2.72603050 |
| 9 | MET | 2.68780176 |
| 10 | WNK4 | 2.23876625 |
| 11 | RIPK1 | 2.21490008 |
| 12 | MAP3K12 | 2.18209059 |
| 13 | GRK6 | 2.17573248 |
| 14 | PRKG2 | 2.10887558 |
| 15 | MST4 | 1.98795384 |
| 16 | FRK | 1.94793611 |
| 17 | TAOK1 | 1.60817837 |
| 18 | EEF2K | 1.57534217 |
| 19 | DDR2 | 1.54804512 |
| 20 | SMG1 | 1.52685751 |
| 21 | LMTK2 | 1.50507085 |
| 22 | WNK3 | 1.48715866 |
| 23 | PTK6 | 1.45043026 |
| 24 | TNK2 | 1.42580875 |
| 25 | OXSR1 | 1.38226981 |
| 26 | KSR2 | 1.37581962 |
| 27 | CAMK1D | 1.31476079 |
| 28 | MAP3K2 | 1.26033433 |
| 29 | NME1 | 1.20479062 |
| 30 | PAK4 | 1.12043035 |
| 31 | CDK4 | 1.11394871 |
| 32 | CDK7 | 1.07633489 |
| 33 | EPHA2 | 1.04144952 |
| 34 | ARAF | 1.02257787 |
| 35 | MAP2K1 | 1.01782696 |
| 36 | ERN1 | 1.00675200 |
| 37 | PTK2 | 0.99086327 |
| 38 | RPS6KA2 | 0.98015975 |
| 39 | MAP3K11 | 0.97198138 |
| 40 | TESK1 | 0.92190903 |
| 41 | ICK | 0.87487886 |
| 42 | EPHB1 | 0.87128351 |
| 43 | TBK1 | 0.85574300 |
| 44 | MYLK | 0.83752077 |
| 45 | NME2 | 0.83496906 |
| 46 | RPS6KL1 | 0.81262166 |
| 47 | RPS6KC1 | 0.81262166 |
| 48 | CAMK1G | 0.79803068 |
| 49 | BCKDK | 0.79693811 |
| 50 | PIM2 | 0.78303893 |
| 51 | BRAF | 0.76760797 |
| 52 | CDC42BPA | 0.74271941 |
| 53 | PDPK1 | 0.72972820 |
| 54 | MAP3K9 | 0.72938989 |
| 55 | RIPK4 | 0.72061995 |
| 56 | ERBB4 | 0.71207735 |
| 57 | ERBB2 | 0.69839353 |
| 58 | MAP3K8 | 0.67936254 |
| 59 | RPS6KA6 | 0.67084573 |
| 60 | CAMK2D | 0.66144620 |
| 61 | PRKCI | 0.65721478 |
| 62 | MAP3K1 | 0.63465334 |
| 63 | RPS6KA5 | 0.63193147 |
| 64 | STK24 | 0.62451680 |
| 65 | MAP4K1 | 0.61659377 |
| 66 | CDK9 | 0.60773202 |
| 67 | MATK | 0.60109661 |
| 68 | NLK | 0.57990999 |
| 69 | PDGFRA | 0.57162348 |
| 70 | FER | 0.56667698 |
| 71 | STK39 | 0.56062874 |
| 72 | STK38 | 0.55759108 |
| 73 | KDR | 0.55179205 |
| 74 | PKN2 | 0.53076795 |
| 75 | MTOR | 0.51790506 |
| 76 | SIK1 | 0.50903686 |
| 77 | MAP2K6 | 0.50591253 |
| 78 | TIE1 | 0.50082975 |
| 79 | NEK1 | 0.48872883 |
| 80 | LATS1 | 0.48853077 |
| 81 | PDK1 | 0.48515109 |
| 82 | IRAK3 | 0.48209234 |
| 83 | FGFR4 | 0.46775822 |
| 84 | STK38L | 0.46520599 |
| 85 | MAP3K7 | 0.46135947 |
| 86 | MAP3K3 | 0.46130833 |
| 87 | DAPK3 | 0.45985463 |
| 88 | TESK2 | 0.44990205 |
| 89 | CSK | 0.44185153 |
| 90 | PDK2 | 0.43911572 |
| 91 | CSF1R | 0.42503864 |
| 92 | MAP3K10 | 0.41470448 |
| 93 | FGFR3 | 0.40080901 |
| 94 | PRKD3 | 0.38574946 |
| 95 | DMPK | 0.37643517 |
| 96 | MAPK11 | 0.36653411 |
| 97 | PTK2B | 0.35801817 |
| 98 | SRC | 0.35610893 |
| 99 | PRKCA | 0.34988621 |
| 100 | CDK3 | 0.34797574 |
| 101 | AKT3 | 0.30272135 |
| 102 | GRK1 | 0.29929315 |
| 103 | DYRK1B | 0.29747410 |
| 104 | PRKAA2 | 0.28299858 |
| 105 | STK11 | 0.25178462 |
| 106 | ROCK1 | 0.24606846 |
| 107 | CAMK2B | 0.24598361 |
| 108 | RPS6KA1 | 0.24304588 |
| 109 | CDK8 | 0.23972900 |
| 110 | LRRK2 | 0.23697832 |
| 111 | CAMK2G | 0.23439324 |
| 112 | STK10 | 0.23314451 |
| 113 | TRIB3 | 0.22787142 |
| 114 | TTN | 0.22708130 |
| 115 | AURKB | 0.22287746 |
| 116 | MAP3K14 | 0.21709292 |
| 117 | MAP3K13 | 0.21091453 |
| 118 | MELK | 0.20737756 |
| 119 | LIMK1 | 0.20648357 |
| 120 | FGFR1 | 0.20026065 |
| 121 | MAPK3 | 0.20010199 |
| 122 | GSK3A | 0.19815979 |
| 123 | MARK2 | 0.19240788 |
| 124 | TYRO3 | 0.19011142 |
| 125 | NEK2 | 0.18959833 |
| 126 | PRKCZ | 0.18666153 |
| 127 | RET | 0.18389674 |
| 128 | INSRR | 0.18108428 |
| 129 | TTK | 0.17384198 |
| 130 | PAK1 | 0.16998725 |
| 131 | IGF1R | 0.16161018 |
| 132 | MAPK1 | 0.16144916 |
| 133 | TGFBR1 | 0.15915077 |
| 134 | PRKACG | 0.15200066 |
| 135 | FGR | 0.14910113 |
| 136 | PRKCD | 0.14190347 |
| 137 | LATS2 | 0.14064275 |
| 138 | PRKD2 | 0.13335401 |
| 139 | PRKAA1 | 0.12912471 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Sulfur metabolism_Homo sapiens_hsa00920 | 7.65010069 |
| 2 | Sulfur relay system_Homo sapiens_hsa04122 | 3.72058270 |
| 3 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.14446138 |
| 4 | Mineral absorption_Homo sapiens_hsa04978 | 2.92915201 |
| 5 | Fat digestion and absorption_Homo sapiens_hsa04975 | 2.81551479 |
| 6 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 2.59951263 |
| 7 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.37743146 |
| 8 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.11704732 |
| 9 | Bile secretion_Homo sapiens_hsa04976 | 2.05858742 |
| 10 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 2.04425713 |
| 11 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 2.02440132 |
| 12 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 1.91087362 |
| 13 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 1.80185669 |
| 14 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.78017703 |
| 15 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.77640885 |
| 16 | Galactose metabolism_Homo sapiens_hsa00052 | 1.55777692 |
| 17 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.53512671 |
| 18 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.51748737 |
| 19 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.51088569 |
| 20 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.47353317 |
| 21 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.47345924 |
| 22 | Renin-angiotensin system_Homo sapiens_hsa04614 | 1.45068643 |
| 23 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.44827697 |
| 24 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 1.43768995 |
| 25 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.43249203 |
| 26 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.42253498 |
| 27 | Histidine metabolism_Homo sapiens_hsa00340 | 1.39171096 |
| 28 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 1.34222470 |
| 29 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.32753145 |
| 30 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.29454510 |
| 31 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 1.27121650 |
| 32 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.26443864 |
| 33 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.26375272 |
| 34 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 1.20859067 |
| 35 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.20220740 |
| 36 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.11109801 |
| 37 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.09494329 |
| 38 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.04349023 |
| 39 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.03714447 |
| 40 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.03273324 |
| 41 | Parkinsons disease_Homo sapiens_hsa05012 | 1.02481601 |
| 42 | Carbon metabolism_Homo sapiens_hsa01200 | 1.01144088 |
| 43 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.00647616 |
| 44 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.98844933 |
| 45 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.98499289 |
| 46 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.97540982 |
| 47 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.97537156 |
| 48 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 0.96933617 |
| 49 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.93017561 |
| 50 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.92904212 |
| 51 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.92561729 |
| 52 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.91925712 |
| 53 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.90425669 |
| 54 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.88695643 |
| 55 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.87266228 |
| 56 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.85910053 |
| 57 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.84940620 |
| 58 | Alzheimers disease_Homo sapiens_hsa05010 | 0.84928611 |
| 59 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.84678604 |
| 60 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.84247122 |
| 61 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.84124212 |
| 62 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.81620195 |
| 63 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.77688229 |
| 64 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.77453314 |
| 65 | Peroxisome_Homo sapiens_hsa04146 | 0.77295650 |
| 66 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.73932317 |
| 67 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.72324517 |
| 68 | Retinol metabolism_Homo sapiens_hsa00830 | 0.67478900 |
| 69 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.67116122 |
| 70 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.65187010 |
| 71 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.62113240 |
| 72 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.60075466 |
| 73 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.59560751 |
| 74 | Tight junction_Homo sapiens_hsa04530 | 0.56699978 |
| 75 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.54136139 |
| 76 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.51811957 |
| 77 | Metabolic pathways_Homo sapiens_hsa01100 | 0.51706033 |
| 78 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.51559229 |
| 79 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.48904827 |
| 80 | Huntingtons disease_Homo sapiens_hsa05016 | 0.48650809 |
| 81 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.48010867 |
| 82 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.47728378 |
| 83 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.47162075 |
| 84 | Prion diseases_Homo sapiens_hsa05020 | 0.46496960 |
| 85 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.46125994 |
| 86 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.45136532 |
| 87 | Salivary secretion_Homo sapiens_hsa04970 | 0.44949652 |
| 88 | Cocaine addiction_Homo sapiens_hsa05030 | 0.42365927 |
| 89 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.38670903 |
| 90 | ABC transporters_Homo sapiens_hsa02010 | 0.37607086 |
| 91 | Bladder cancer_Homo sapiens_hsa05219 | 0.35549818 |
| 92 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.35333612 |
| 93 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.33194172 |
| 94 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.30654715 |
| 95 | Thyroid cancer_Homo sapiens_hsa05216 | 0.29770063 |
| 96 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.29380435 |
| 97 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.28299523 |
| 98 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.26392345 |
| 99 | Insulin resistance_Homo sapiens_hsa04931 | 0.25985743 |
| 100 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.25400118 |
| 101 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.25232736 |
| 102 | Renin secretion_Homo sapiens_hsa04924 | 0.23501134 |
| 103 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.23439716 |
| 104 | Lysine degradation_Homo sapiens_hsa00310 | 0.23195781 |
| 105 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.23012922 |
| 106 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.22963536 |
| 107 | Hepatitis C_Homo sapiens_hsa05160 | 0.22868032 |
| 108 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.22759047 |
| 109 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.22532495 |
| 110 | Other glycan degradation_Homo sapiens_hsa00511 | 0.21974788 |
| 111 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.21022912 |
| 112 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.20530106 |
| 113 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.19610351 |
| 114 | Amoebiasis_Homo sapiens_hsa05146 | 0.18496128 |
| 115 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.17425758 |
| 116 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.16432775 |
| 117 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.15767001 |
| 118 | Adherens junction_Homo sapiens_hsa04520 | 0.15580541 |
| 119 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.15362801 |
| 120 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.14844045 |
| 121 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.14803332 |
| 122 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.04869777 |

