

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | surfactant homeostasis (GO:0043129) | 4.96232374 |
| 2 | enteric nervous system development (GO:0048484) | 4.88005436 |
| 3 | regulation of branching involved in prostate gland morphogenesis (GO:0060687) | 4.82508053 |
| 4 | polarized epithelial cell differentiation (GO:0030859) | 4.55891066 |
| 5 | regulation of endothelial cell differentiation (GO:0045601) | 4.12234181 |
| 6 | respiratory tube development (GO:0030323) | 4.11382724 |
| 7 | renal filtration (GO:0097205) | 4.07953709 |
| 8 | establishment of apical/basal cell polarity (GO:0035089) | 4.07086268 |
| 9 | lung vasculature development (GO:0060426) | 4.05140317 |
| 10 | positive regulation of transcription regulatory region DNA binding (GO:2000679) | 3.99888678 |
| 11 | midgut development (GO:0007494) | 3.99431404 |
| 12 | endocardial cushion development (GO:0003197) | 3.94206934 |
| 13 | glomerular filtration (GO:0003094) | 3.93903124 |
| 14 | positive regulation of fatty acid beta-oxidation (GO:0032000) | 3.82517134 |
| 15 | * mesenchyme morphogenesis (GO:0072132) | 3.82398100 |
| 16 | bone trabecula formation (GO:0060346) | 3.77018185 |
| 17 | positive regulation of endothelial cell differentiation (GO:0045603) | 3.75493077 |
| 18 | chemical homeostasis within a tissue (GO:0048875) | 3.75466390 |
| 19 | blood vessel maturation (GO:0001955) | 3.74631532 |
| 20 | regulation of fatty acid beta-oxidation (GO:0031998) | 3.72585328 |
| 21 | vascular endothelial growth factor signaling pathway (GO:0038084) | 3.71247534 |
| 22 | adherens junction assembly (GO:0034333) | 3.65027324 |
| 23 | endothelial tube morphogenesis (GO:0061154) | 3.47297952 |
| 24 | morphogenesis of an endothelium (GO:0003159) | 3.47297952 |
| 25 | lymphangiogenesis (GO:0001946) | 3.46038197 |
| 26 | establishment or maintenance of monopolar cell polarity (GO:0061339) | 3.45708933 |
| 27 | establishment of monopolar cell polarity (GO:0061162) | 3.45708933 |
| 28 | focal adhesion assembly (GO:0048041) | 3.45310393 |
| 29 | cell-substrate adherens junction assembly (GO:0007045) | 3.45310393 |
| 30 | lymph vessel development (GO:0001945) | 3.40370356 |
| 31 | embryonic skeletal joint morphogenesis (GO:0060272) | 3.39962924 |
| 32 | semaphorin-plexin signaling pathway (GO:0071526) | 3.38175448 |
| 33 | neuron projection extension involved in neuron projection guidance (GO:1902284) | 3.34861677 |
| 34 | axon extension involved in axon guidance (GO:0048846) | 3.34861677 |
| 35 | negative regulation of cell size (GO:0045792) | 3.34204226 |
| 36 | peripheral nervous system neuron development (GO:0048935) | 3.33237408 |
| 37 | basement membrane organization (GO:0071711) | 3.32625492 |
| 38 | embryonic foregut morphogenesis (GO:0048617) | 3.32420283 |
| 39 | endothelial cell morphogenesis (GO:0001886) | 3.29348468 |
| 40 | hippo signaling (GO:0035329) | 3.27439079 |
| 41 | mesonephros development (GO:0001823) | 3.25553026 |
| 42 | collagen fibril organization (GO:0030199) | 3.22880118 |
| 43 | COPI coating of Golgi vesicle (GO:0048205) | 3.18824094 |
| 44 | Golgi transport vesicle coating (GO:0048200) | 3.18824094 |
| 45 | positive regulation of blood vessel endothelial cell migration (GO:0043536) | 3.18325553 |
| 46 | cellular response to vascular endothelial growth factor stimulus (GO:0035924) | 3.18011208 |
| 47 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 3.17573625 |
| 48 | cell migration involved in sprouting angiogenesis (GO:0002042) | 3.17289846 |
| 49 | * endocardial cushion morphogenesis (GO:0003203) | 3.16041536 |
| 50 | negative regulation of fatty acid transport (GO:2000192) | 3.15817124 |
| 51 | insulin-like growth factor receptor signaling pathway (GO:0048009) | 3.15520155 |
| 52 | cell migration involved in heart development (GO:0060973) | 3.11533101 |
| 53 | artery development (GO:0060840) | 3.09542524 |
| 54 | regulation of mammary gland epithelial cell proliferation (GO:0033599) | 3.09277233 |
| 55 | maternal placenta development (GO:0001893) | 3.08432754 |
| 56 | coronary vasculature morphogenesis (GO:0060977) | 3.08399375 |
| 57 | regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547) | 3.05070566 |
| 58 | sympathetic nervous system development (GO:0048485) | 3.04562633 |
| 59 | Wnt signaling pathway, planar cell polarity pathway (GO:0060071) | 3.03511449 |
| 60 | lung lobe morphogenesis (GO:0060463) | 3.00839852 |
| 61 | regulation of vascular endothelial growth factor signaling pathway (GO:1900746) | 3.00829101 |
| 62 | positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr | 3.00194960 |
| 63 | renal system development (GO:0072001) | 2.98448289 |
| 64 | * outflow tract septum morphogenesis (GO:0003148) | 2.97832517 |
| 65 | negative regulation of cardiac muscle cell apoptotic process (GO:0010667) | 2.96655263 |
| 66 | metanephric nephron tubule development (GO:0072234) | 2.96272573 |
| 67 | metanephric tubule development (GO:0072170) | 2.96272573 |
| 68 | retina vasculature morphogenesis in camera-type eye (GO:0061299) | 2.96103216 |
| 69 | muscle cell migration (GO:0014812) | 2.95515541 |
| 70 | metanephric mesenchyme development (GO:0072075) | 2.95230890 |
| 71 | ear development (GO:0043583) | 2.93749365 |
| 72 | metanephric nephron epithelium development (GO:0072243) | 2.93395680 |
| 73 | heart valve morphogenesis (GO:0003179) | 2.93015061 |
| 74 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 2.92591409 |
| 75 | gonadal mesoderm development (GO:0007506) | 2.91313449 |
| 76 | stress fiber assembly (GO:0043149) | 2.90704304 |
| 77 | regulation of vasculogenesis (GO:2001212) | 2.90603698 |
| 78 | negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037) | 2.90301906 |
| 79 | establishment of epithelial cell polarity (GO:0090162) | 2.89551388 |
| 80 | cell proliferation involved in metanephros development (GO:0072203) | 2.87494420 |
| 81 | regulation of establishment of planar polarity (GO:0090175) | 2.85843848 |
| 82 | cysteine metabolic process (GO:0006534) | 2.84750137 |
| 83 | hypotonic response (GO:0006971) | 2.84576617 |
| 84 | blood vessel remodeling (GO:0001974) | 2.83944167 |
| 85 | eyelid development in camera-type eye (GO:0061029) | 2.83397169 |
| 86 | cell proliferation involved in kidney development (GO:0072111) | 2.83263664 |
| 87 | skin morphogenesis (GO:0043589) | 2.83185698 |
| 88 | kidney mesenchyme development (GO:0072074) | 2.82496748 |
| 89 | cochlea morphogenesis (GO:0090103) | 2.82154261 |
| 90 | endothelial cell differentiation (GO:0045446) | 2.80347171 |
| 91 | mesenchymal-epithelial cell signaling (GO:0060638) | 2.78948939 |
| 92 | cell-substrate junction assembly (GO:0007044) | 2.78672249 |
| 93 | blood vessel endothelial cell migration (GO:0043534) | 2.78194896 |
| 94 | paraxial mesoderm development (GO:0048339) | 2.77679391 |
| 95 | metanephric epithelium development (GO:0072207) | 2.77311218 |
| 96 | regulation of organ formation (GO:0003156) | 2.75992022 |
| 97 | negative regulation of catenin import into nucleus (GO:0035414) | 2.75227225 |
| 98 | atrial septum morphogenesis (GO:0060413) | 2.74552587 |
| 99 | mesoderm formation (GO:0001707) | 2.74259544 |
| 100 | * regulation of heart morphogenesis (GO:2000826) | 2.74002880 |
| 101 | vasculature development (GO:0001944) | 2.73530102 |
| 102 | atrioventricular valve morphogenesis (GO:0003181) | 2.73460796 |
| 103 | regulation of glucose import in response to insulin stimulus (GO:2001273) | 2.73190542 |
| 104 | mesodermal cell differentiation (GO:0048333) | 2.70070674 |
| 105 | vascular endothelial growth factor receptor signaling pathway (GO:0048010) | 2.69398902 |
| 106 | positive regulation of epithelial to mesenchymal transition (GO:0010718) | 2.69209229 |
| 107 | nephron tubule development (GO:0072080) | 2.68059496 |
| 108 | negative regulation of striated muscle cell apoptotic process (GO:0010664) | 2.67894579 |
| 109 | branching involved in mammary gland duct morphogenesis (GO:0060444) | 2.67854049 |
| 110 | regulation of axon extension involved in axon guidance (GO:0048841) | 2.67336242 |
| 111 | negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067) | 2.67257817 |
| 112 | uterus development (GO:0060065) | 2.67068180 |
| 113 | regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358) | 2.65809098 |
| 114 | axis elongation (GO:0003401) | 2.65668099 |
| 115 | vagina development (GO:0060068) | 2.65600612 |
| 116 | positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862) | 2.65357568 |
| 117 | mammary gland epithelial cell differentiation (GO:0060644) | 2.63510368 |
| 118 | positive regulation of fatty acid oxidation (GO:0046321) | 2.63171863 |
| 119 | regulation of secondary heart field cardioblast proliferation (GO:0003266) | 2.62907462 |
| 120 | regulation of cardioblast proliferation (GO:0003264) | 2.62907462 |
| 121 | cell migration in hindbrain (GO:0021535) | 2.62810490 |
| 122 | negative regulation of chondrocyte differentiation (GO:0032331) | 2.62166658 |
| 123 | mesenchymal cell proliferation (GO:0010463) | 2.61827433 |
| 124 | mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337) | 2.61536489 |
| 125 | epoxygenase P450 pathway (GO:0019373) | 2.61496054 |
| 126 | extracellular matrix assembly (GO:0085029) | 2.61297400 |
| 127 | non-canonical Wnt signaling pathway (GO:0035567) | 2.61258693 |
| 128 | dorsal/ventral axis specification (GO:0009950) | 2.61070873 |
| 129 | organ induction (GO:0001759) | 2.60783710 |
| 130 | establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197) | 2.60353047 |
| 131 | regulation of cardioblast differentiation (GO:0051890) | 2.60001271 |
| 132 | toxin metabolic process (GO:0009404) | 2.59614951 |
| 133 | anterior/posterior axis specification, embryo (GO:0008595) | 2.59613317 |
| 134 | diterpenoid biosynthetic process (GO:0016102) | 2.58042588 |
| 135 | positive regulation of hormone biosynthetic process (GO:0046886) | 2.57947143 |
| 136 | * embryonic eye morphogenesis (GO:0048048) | 2.57749195 |
| 137 | regulation of hippo signaling (GO:0035330) | 2.56616930 |
| 138 | female genitalia development (GO:0030540) | 2.56265739 |
| 139 | protein retention in ER lumen (GO:0006621) | 2.56254697 |
| 140 | vasculogenesis (GO:0001570) | 2.55971380 |
| 141 | endocrine hormone secretion (GO:0060986) | 2.55810047 |
| 142 | negative regulation of axon extension involved in axon guidance (GO:0048843) | 2.55364788 |
| 143 | positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241) | 2.55236060 |
| 144 | protein heterotrimerization (GO:0070208) | 2.55139685 |
| 145 | negative regulation of adherens junction organization (GO:1903392) | 2.55116766 |
| 146 | negative regulation of focal adhesion assembly (GO:0051895) | 2.55116766 |
| 147 | negative regulation of cell junction assembly (GO:1901889) | 2.55116766 |
| 148 | ganglion development (GO:0061548) | 2.54860204 |
| 149 | tooth mineralization (GO:0034505) | 2.53776117 |
| 150 | regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095) | 2.52959433 |
| 151 | proximal/distal pattern formation (GO:0009954) | 2.50566875 |
| 152 | endothelial cell chemotaxis (GO:0035767) | 2.50268690 |
| 153 | fibroblast migration (GO:0010761) | 2.50143678 |
| 154 | mesenchyme development (GO:0060485) | 2.49811043 |
| 155 | cardiac myofibril assembly (GO:0055003) | 2.48758209 |
| 156 | sodium ion homeostasis (GO:0055078) | 2.48669051 |
| 157 | glomerular basement membrane development (GO:0032836) | 2.48592598 |
| 158 | lung alveolus development (GO:0048286) | 2.47846606 |
| 159 | tonic smooth muscle contraction (GO:0014820) | 2.47797532 |
| 160 | dichotomous subdivision of an epithelial terminal unit (GO:0060600) | 2.47274576 |
| 161 | male genitalia development (GO:0030539) | 2.46101367 |
| 162 | anatomical structure regression (GO:0060033) | 2.45640596 |
| 163 | nephron epithelium development (GO:0072009) | 2.45573422 |
| 164 | negative regulation of cell fate specification (GO:0009996) | 2.45524749 |
| 165 | multicellular organismal macromolecule metabolic process (GO:0044259) | 2.44096897 |
| 166 | lung morphogenesis (GO:0060425) | 2.43245705 |
| 167 | patterning of blood vessels (GO:0001569) | 2.43012025 |
| 168 | collagen metabolic process (GO:0032963) | 2.41805230 |
| 169 | G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199 | 2.40965063 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 3.99051377 |
| 2 | CLOCK_20551151_ChIP-Seq_293T_Human | 3.31696348 |
| 3 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 3.07694748 |
| 4 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 2.97663143 |
| 5 | PPARG_19300518_ChIP-PET_3T3-L1_Mouse | 2.61246541 |
| 6 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 2.50945500 |
| 7 | EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 2.44373080 |
| 8 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 2.34567019 |
| 9 | ZNF263_19887448_ChIP-Seq_K562_Human | 2.21839835 |
| 10 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 2.21121588 |
| 11 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 2.18938186 |
| 12 | EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse | 2.18904606 |
| 13 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 2.09706518 |
| 14 | * WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 2.07160033 |
| 15 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 2.04213687 |
| 16 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 2.00105290 |
| 17 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 1.97061445 |
| 18 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 1.92796785 |
| 19 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.92648594 |
| 20 | * ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.92107082 |
| 21 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.91668344 |
| 22 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 1.89923910 |
| 23 | * EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.84098241 |
| 24 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.83681651 |
| 25 | * EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.76606748 |
| 26 | * RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.76606748 |
| 27 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.75236596 |
| 28 | KDM2B_26808549_Chip-Seq_SUP-B15_Human | 1.75004269 |
| 29 | KDM2B_26808549_Chip-Seq_SIL-ALL_Human | 1.72967816 |
| 30 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 1.72209757 |
| 31 | RACK7_27058665_Chip-Seq_MCF-7_Human | 1.70899222 |
| 32 | * SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.69744722 |
| 33 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.61456149 |
| 34 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 1.59643132 |
| 35 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 1.59643132 |
| 36 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 1.59194179 |
| 37 | * ISL1_27105846_Chip-Seq_CPCs_Mouse | 1.57942296 |
| 38 | KDM2B_26808549_Chip-Seq_K562_Human | 1.56560444 |
| 39 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.55887474 |
| 40 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.55660742 |
| 41 | * PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.53359501 |
| 42 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.52887161 |
| 43 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.52396026 |
| 44 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.50421789 |
| 45 | DMRT1_23473982_ChIP-Seq_TESTES_Mouse | 1.47567999 |
| 46 | * EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human | 1.45729564 |
| 47 | * JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.45493999 |
| 48 | CDX2_20551321_ChIP-Seq_CACO-2_Human | 1.45287668 |
| 49 | * TET1_21451524_ChIP-Seq_MESCs_Mouse | 1.43118209 |
| 50 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 1.43014131 |
| 51 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.42597152 |
| 52 | * TP53_20018659_ChIP-ChIP_R1E_Mouse | 1.42182386 |
| 53 | TCF7_22412390_ChIP-Seq_EML_Mouse | 1.42114966 |
| 54 | * TP53_22127205_ChIP-Seq_IMR90_Human | 1.41655192 |
| 55 | * SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 1.41329208 |
| 56 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 1.41107303 |
| 57 | LXR_22158963_ChIP-Seq_LIVER_Mouse | 1.39551915 |
| 58 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 1.39091947 |
| 59 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.37476779 |
| 60 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.31307595 |
| 61 | SMC3_22415368_ChIP-Seq_MEFs_Mouse | 1.31294720 |
| 62 | * ZFP281_27345836_Chip-Seq_ESCs_Mouse | 1.30692836 |
| 63 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 1.30489788 |
| 64 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.30335334 |
| 65 | SMC1_22415368_ChIP-Seq_MEFs_Mouse | 1.29836291 |
| 66 | KDM2B_26808549_Chip-Seq_DND41_Human | 1.29292218 |
| 67 | * RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.29224672 |
| 68 | * MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.28889396 |
| 69 | * EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.28487765 |
| 70 | * ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.27334941 |
| 71 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.27315630 |
| 72 | WT1_25993318_ChIP-Seq_PODOCYTE_Human | 1.26818497 |
| 73 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 1.25949974 |
| 74 | CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human | 1.25888257 |
| 75 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.25883911 |
| 76 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.25182365 |
| 77 | NR1I2_20693526_ChIP-Seq_LIVER_Mouse | 1.24884359 |
| 78 | * SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 1.24667711 |
| 79 | RXR_22158963_ChIP-Seq_LIVER_Mouse | 1.24611540 |
| 80 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 1.23250212 |
| 81 | * STAT3_19079543_ChIP-ChIP_MESCs_Mouse | 1.23225886 |
| 82 | * RING1B_27294783_Chip-Seq_NPCs_Mouse | 1.22860608 |
| 83 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 1.22367416 |
| 84 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 1.22366784 |
| 85 | KDM2B_26808549_Chip-Seq_JURKAT_Human | 1.21720035 |
| 86 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.21240186 |
| 87 | * RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.21161596 |
| 88 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.20854752 |
| 89 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 1.20663693 |
| 90 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 1.20663693 |
| 91 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 1.20663693 |
| 92 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.20345410 |
| 93 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 1.20245821 |
| 94 | * KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 1.19359418 |
| 95 | BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 1.19148559 |
| 96 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.18955484 |
| 97 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 1.18354299 |
| 98 | * RING1B_27294783_Chip-Seq_ESCs_Mouse | 1.17033905 |
| 99 | SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.16073895 |
| 100 | CREB1_26743006_Chip-Seq_LNCaP_Human | 1.15637041 |
| 101 | VDR_21846776_ChIP-Seq_THP-1_Human | 1.15142330 |
| 102 | SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 1.15055853 |
| 103 | * SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 1.14625852 |
| 104 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 1.13710860 |
| 105 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.13536727 |
| 106 | ZIC3_20872845_ChIP-ChIP_MESCs_Mouse | 1.13463981 |
| 107 | SOX2_20726797_ChIP-Seq_SW620_Human | 1.13359094 |
| 108 | * RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.13323696 |
| 109 | SALL4_18804426_ChIP-ChIP_XEN_Mouse | 1.12441551 |
| 110 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 1.12140274 |
| 111 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.12006458 |
| 112 | CJUN_26792858_Chip-Seq_BT549_Human | 1.11654462 |
| 113 | TP53_23651856_ChIP-Seq_MEFs_Mouse | 1.11550176 |
| 114 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.11130404 |
| 115 | CTCF_27219007_Chip-Seq_ERYTHROID_Human | 1.11110312 |
| 116 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.10739800 |
| 117 | SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse | 1.09903509 |
| 118 | SOX2_27498859_Chip-Seq_STOMACH_Mouse | 1.09169568 |
| 119 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.08888711 |
| 120 | * JARID2_20064375_ChIP-Seq_MESCs_Mouse | 1.08306528 |
| 121 | * EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.08018733 |
| 122 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.06913871 |
| 123 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 1.06628102 |
| 124 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 1.06049199 |
| 125 | MYC_22102868_ChIP-Seq_BL_Human | 1.04223817 |
| 126 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.03615805 |
| 127 | * SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.02128660 |
| 128 | TET1_21490601_ChIP-Seq_MESCs_Mouse | 1.01974722 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0010368_abnormal_lymphatic_system | 3.86438530 |
| 2 | MP0001958_emphysema | 3.81541581 |
| 3 | MP0004272_abnormal_basement_membrane | 3.67457333 |
| 4 | MP0008438_abnormal_cutaneous_collagen | 3.21300668 |
| 5 | MP0003705_abnormal_hypodermis_morpholog | 3.16905999 |
| 6 | MP0001879_abnormal_lymphatic_vessel | 2.88222530 |
| 7 | MP0000534_abnormal_ureter_morphology | 2.86204518 |
| 8 | MP0000537_abnormal_urethra_morphology | 2.75326162 |
| 9 | MP0005367_renal/urinary_system_phenotyp | 2.41546576 |
| 10 | MP0000516_abnormal_urinary_system | 2.41546576 |
| 11 | MP0005623_abnormal_meninges_morphology | 2.20687178 |
| 12 | MP0005377_hearing/vestibular/ear_phenot | 2.15005612 |
| 13 | MP0003878_abnormal_ear_physiology | 2.15005612 |
| 14 | MP0009780_abnormal_chondrocyte_physiolo | 2.06155154 |
| 15 | MP0003385_abnormal_body_wall | 2.02300869 |
| 16 | MP0009384_cardiac_valve_regurgitation | 1.90765292 |
| 17 | MP0005275_abnormal_skin_tensile | 1.90350184 |
| 18 | MP0002138_abnormal_hepatobiliary_system | 1.90086194 |
| 19 | MP0003942_abnormal_urinary_system | 1.86039947 |
| 20 | MP0002751_abnormal_autonomic_nervous | 1.85186718 |
| 21 | MP0000767_abnormal_smooth_muscle | 1.78354724 |
| 22 | MP0005076_abnormal_cell_differentiation | 1.77788140 |
| 23 | MP0005503_abnormal_tendon_morphology | 1.74737311 |
| 24 | MP0009053_abnormal_anal_canal | 1.73726190 |
| 25 | MP0003279_aneurysm | 1.70089331 |
| 26 | MP0006138_congestive_heart_failure | 1.68023567 |
| 27 | MP0005167_abnormal_blood-brain_barrier | 1.66696100 |
| 28 | MP0005248_abnormal_Harderian_gland | 1.66147576 |
| 29 | MP0002282_abnormal_trachea_morphology | 1.63019864 |
| 30 | MP0010030_abnormal_orbit_morphology | 1.62768545 |
| 31 | MP0004084_abnormal_cardiac_muscle | 1.62506495 |
| 32 | MP0003566_abnormal_cell_adhesion | 1.61972209 |
| 33 | MP0001849_ear_inflammation | 1.61686542 |
| 34 | MP0003115_abnormal_respiratory_system | 1.60887875 |
| 35 | MP0002877_abnormal_melanocyte_morpholog | 1.58540239 |
| 36 | MP0009250_abnormal_appendicular_skeleto | 1.57380399 |
| 37 | MP0001542_abnormal_bone_strength | 1.51924849 |
| 38 | MP0000538_abnormal_urinary_bladder | 1.51177591 |
| 39 | MP0000751_myopathy | 1.47801098 |
| 40 | MP0006054_spinal_hemorrhage | 1.47501537 |
| 41 | MP0003122_maternal_imprinting | 1.47411223 |
| 42 | MP0005409_darkened_coat_color | 1.46498118 |
| 43 | MP0001756_abnormal_urination | 1.45675424 |
| 44 | MP0002249_abnormal_larynx_morphology | 1.37190310 |
| 45 | MP0002060_abnormal_skin_morphology | 1.35543185 |
| 46 | MP0000003_abnormal_adipose_tissue | 1.33756418 |
| 47 | MP0001299_abnormal_eye_distance/ | 1.30111312 |
| 48 | MP0005408_hypopigmentation | 1.29866163 |
| 49 | MP0005257_abnormal_intraocular_pressure | 1.29753809 |
| 50 | MP0001270_distended_abdomen | 1.29626130 |
| 51 | MP0004782_abnormal_surfactant_physiolog | 1.22883931 |
| 52 | MP0000013_abnormal_adipose_tissue | 1.18135651 |
| 53 | MP0000762_abnormal_tongue_morphology | 1.16850052 |
| 54 | MP0004036_abnormal_muscle_relaxation | 1.16511600 |
| 55 | MP0010386_abnormal_urinary_bladder | 1.16267558 |
| 56 | MP0004858_abnormal_nervous_system | 1.16193893 |
| 57 | MP0002116_abnormal_craniofacial_bone | 1.14904308 |
| 58 | * MP0003935_abnormal_craniofacial_develop | 1.14611925 |
| 59 | MP0005197_abnormal_uvea_morphology | 1.12627406 |
| 60 | MP0000759_abnormal_skeletal_muscle | 1.09374119 |
| 61 | MP0001664_abnormal_digestion | 1.09270702 |
| 62 | MP0002009_preneoplasia | 1.07681115 |
| 63 | MP0005508_abnormal_skeleton_morphology | 1.07613792 |
| 64 | * MP0002925_abnormal_cardiovascular_devel | 1.05203678 |
| 65 | MP0002295_abnormal_pulmonary_circulatio | 1.04789229 |
| 66 | MP0002128_abnormal_blood_circulation | 1.03489314 |
| 67 | MP0000733_abnormal_muscle_development | 1.01848034 |
| 68 | MP0005385_cardiovascular_system_phenoty | 1.01378904 |
| 69 | MP0001544_abnormal_cardiovascular_syste | 1.01378904 |
| 70 | MP0005360_urolithiasis | 1.00914882 |
| 71 | MP0005171_absent_coat_pigmentation | 1.00698814 |
| 72 | MP0002932_abnormal_joint_morphology | 1.00010409 |
| 73 | MP0003937_abnormal_limbs/digits/tail_de | 0.99763750 |
| 74 | MP0010234_abnormal_vibrissa_follicle | 0.99306110 |
| 75 | MP0001243_abnormal_dermal_layer | 0.99196762 |
| 76 | MP0005058_abnormal_lysosome_morphology | 0.98966090 |
| 77 | MP0005187_abnormal_penis_morphology | 0.98206167 |
| 78 | MP0005595_abnormal_vascular_smooth | 0.97961717 |
| 79 | MP0004381_abnormal_hair_follicle | 0.97903135 |
| 80 | * MP0001614_abnormal_blood_vessel | 0.97569235 |
| 81 | MP0000049_abnormal_middle_ear | 0.96286651 |
| 82 | MP0010630_abnormal_cardiac_muscle | 0.95161030 |
| 83 | MP0003941_abnormal_skin_development | 0.94404367 |
| 84 | MP0002089_abnormal_postnatal_growth/wei | 0.92575166 |
| 85 | MP0002114_abnormal_axial_skeleton | 0.92352580 |
| 86 | MP0002133_abnormal_respiratory_system | 0.91027432 |
| 87 | MP0005388_respiratory_system_phenotype | 0.91027432 |
| 88 | MP0001175_abnormal_lung_morphology | 0.90910650 |
| 89 | MP0002115_abnormal_skeleton_extremities | 0.90843311 |
| 90 | MP0000462_abnormal_digestive_system | 0.90739486 |
| 91 | MP0003567_abnormal_fetal_cardiomyocyte | 0.89906699 |
| 92 | MP0009643_abnormal_urine_homeostasis | 0.89320845 |
| 93 | MP0008875_abnormal_xenobiotic_pharmacok | 0.89168476 |
| 94 | MP0002896_abnormal_bone_mineralization | 0.88766228 |
| 95 | MP0000163_abnormal_cartilage_morphology | 0.88490202 |
| 96 | MP0000613_abnormal_salivary_gland | 0.88386891 |
| 97 | MP0001348_abnormal_lacrimal_gland | 0.87338138 |
| 98 | MP0003283_abnormal_digestive_organ | 0.86920015 |
| 99 | MP0000750_abnormal_muscle_regeneration | 0.86583436 |
| 100 | MP0000428_abnormal_craniofacial_morphol | 0.86135955 |
| 101 | MP0001765_abnormal_ion_homeostasis | 0.84367559 |
| 102 | MP0003091_abnormal_cell_migration | 0.83033710 |
| 103 | MP0003315_abnormal_perineum_morphology | 0.82202884 |
| 104 | MP0003119_abnormal_digestive_system | 0.82119452 |
| 105 | MP0005164_abnormal_response_to | 0.81380227 |
| 106 | MP0005390_skeleton_phenotype | 0.81363983 |
| 107 | MP0003123_paternal_imprinting | 0.81168589 |
| 108 | MP0000432_abnormal_head_morphology | 0.80388129 |
| 109 | MP0002139_abnormal_hepatobiliary_system | 0.80108747 |
| 110 | MP0002135_abnormal_kidney_morphology | 0.79799907 |
| 111 | MP0000467_abnormal_esophagus_morphology | 0.78988247 |
| 112 | MP0002098_abnormal_vibrissa_morphology | 0.78320808 |
| 113 | MP0000266_abnormal_heart_morphology | 0.78209299 |
| 114 | MP0003828_pulmonary_edema | 0.78200946 |
| 115 | MP0002113_abnormal_skeleton_development | 0.77684928 |
| 116 | MP0005330_cardiomyopathy | 0.76890391 |
| 117 | MP0004885_abnormal_endolymph | 0.75829774 |
| 118 | MP0004087_abnormal_muscle_fiber | 0.75674348 |
| 119 | MP0002653_abnormal_ependyma_morphology | 0.75609775 |
| 120 | MP0001485_abnormal_pinna_reflex | 0.75310842 |
| 121 | MP0001661_extended_life_span | 0.75143935 |
| 122 | MP0005023_abnormal_wound_healing | 0.75032193 |
| 123 | MP0004085_abnormal_heartbeat | 0.74928076 |
| 124 | MP0003755_abnormal_palate_morphology | 0.74018295 |
| 125 | MP0001340_abnormal_eyelid_morphology | 0.73326938 |
| 126 | MP0005375_adipose_tissue_phenotype | 0.73057197 |
| 127 | MP0002697_abnormal_eye_size | 0.73043246 |
| 128 | MP0002972_abnormal_cardiac_muscle | 0.72313800 |
| 129 | MP0005620_abnormal_muscle_contractility | 0.72223894 |
| 130 | MP0002136_abnormal_kidney_physiology | 0.72135568 |
| 131 | MP0002108_abnormal_muscle_morphology | 0.71685323 |
| 132 | MP0004264_abnormal_extraembryonic_tissu | 0.71462513 |
| 133 | MP0005193_abnormal_anterior_eye | 0.70471287 |
| 134 | MP0000470_abnormal_stomach_morphology | 0.69974812 |
| 135 | MP0004233_abnormal_muscle_weight | 0.69952946 |
| 136 | * MP0002109_abnormal_limb_morphology | 0.68625134 |
| 137 | MP0000681_abnormal_thyroid_gland | 0.67450760 |
| 138 | MP0000579_abnormal_nail_morphology | 0.66123646 |
| 139 | MP0002177_abnormal_outer_ear | 0.65704008 |
| 140 | MP0002796_impaired_skin_barrier | 0.64375864 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Aortic aneurysm (HP:0004942) | 4.80136333 |
| 2 | Aortic dissection (HP:0002647) | 4.27957046 |
| 3 | Hematochezia (HP:0002573) | 3.88197906 |
| 4 | Broad metatarsal (HP:0001783) | 3.82640324 |
| 5 | Hyperactive renin-angiotensin system (HP:0000841) | 3.63326742 |
| 6 | Ankle contracture (HP:0006466) | 3.63215743 |
| 7 | Cerebral aneurysm (HP:0004944) | 3.50164926 |
| 8 | Polycythemia (HP:0001901) | 3.46627779 |
| 9 | Protrusio acetabuli (HP:0003179) | 3.38679226 |
| 10 | J-shaped sella turcica (HP:0002680) | 3.37414317 |
| 11 | Shallow orbits (HP:0000586) | 3.35266649 |
| 12 | Potter facies (HP:0002009) | 3.33795546 |
| 13 | Facial shape deformation (HP:0011334) | 3.33795546 |
| 14 | Cervical subluxation (HP:0003308) | 3.26573830 |
| 15 | Lymphangioma (HP:0100764) | 3.16166184 |
| 16 | * Shawl scrotum (HP:0000049) | 3.05361246 |
| 17 | Bladder diverticulum (HP:0000015) | 3.00888216 |
| 18 | Hypoventilation (HP:0002791) | 3.00871456 |
| 19 | Renal duplication (HP:0000075) | 2.92034435 |
| 20 | Premature rupture of membranes (HP:0001788) | 2.92028441 |
| 21 | Visceral angiomatosis (HP:0100761) | 2.89740054 |
| 22 | Abnormality of dentin (HP:0010299) | 2.83906708 |
| 23 | Aneurysm (HP:0002617) | 2.82369638 |
| 24 | Partial duplication of the phalanx of hand (HP:0009999) | 2.79564925 |
| 25 | * Long toe (HP:0010511) | 2.78798055 |
| 26 | Pulmonary artery stenosis (HP:0004415) | 2.75514595 |
| 27 | Short 4th metacarpal (HP:0010044) | 2.73196432 |
| 28 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 2.73196432 |
| 29 | Biconcave vertebral bodies (HP:0004586) | 2.72049936 |
| 30 | Vertebral compression fractures (HP:0002953) | 2.70490790 |
| 31 | Fragile skin (HP:0001030) | 2.68742549 |
| 32 | Hemangiomatosis (HP:0007461) | 2.68625055 |
| 33 | * Camptodactyly of toe (HP:0001836) | 2.65304560 |
| 34 | Follicular hyperkeratosis (HP:0007502) | 2.61576013 |
| 35 | Mitral valve prolapse (HP:0001634) | 2.60072346 |
| 36 | * Midline defect of the nose (HP:0004122) | 2.58777320 |
| 37 | Spinal cord lesions (HP:0100561) | 2.55763159 |
| 38 | Syringomyelia (HP:0003396) | 2.55763159 |
| 39 | Congenital glaucoma (HP:0001087) | 2.55491634 |
| 40 | Blue sclerae (HP:0000592) | 2.50507465 |
| 41 | Ulnar bowing (HP:0003031) | 2.47816987 |
| 42 | Genu recurvatum (HP:0002816) | 2.47319551 |
| 43 | Spontaneous hematomas (HP:0007420) | 2.46770681 |
| 44 | Hypokalemic alkalosis (HP:0001949) | 2.46620030 |
| 45 | Abnormality of the phalanges of the hallux (HP:0010057) | 2.46321669 |
| 46 | Type 1 muscle fiber predominance (HP:0003803) | 2.46020241 |
| 47 | Deformed sella turcica (HP:0002681) | 2.44469071 |
| 48 | Turricephaly (HP:0000262) | 2.44168611 |
| 49 | Interstitial pulmonary disease (HP:0006530) | 2.44103027 |
| 50 | Thin bony cortex (HP:0002753) | 2.38285230 |
| 51 | Hyperacusis (HP:0010780) | 2.38266644 |
| 52 | Abnormality of the umbilical cord (HP:0010881) | 2.37660185 |
| 53 | Esophageal varix (HP:0002040) | 2.36544549 |
| 54 | Rectal prolapse (HP:0002035) | 2.35839881 |
| 55 | Broad face (HP:0000283) | 2.35776633 |
| 56 | Elfin facies (HP:0004428) | 2.34162186 |
| 57 | Coronal craniosynostosis (HP:0004440) | 2.34058140 |
| 58 | Hydroureter (HP:0000072) | 2.29108114 |
| 59 | Abnormality of the 4th metacarpal (HP:0010012) | 2.28448184 |
| 60 | Joint laxity (HP:0001388) | 2.26858081 |
| 61 | Atrophic scars (HP:0001075) | 2.24397900 |
| 62 | Absent frontal sinuses (HP:0002688) | 2.22821641 |
| 63 | Abnormal umbilical cord blood vessels (HP:0011403) | 2.20571413 |
| 64 | Single umbilical artery (HP:0001195) | 2.20571413 |
| 65 | Abnormality of the fetal cardiovascular system (HP:0010948) | 2.20571413 |
| 66 | Subacute progressive viral hepatitis (HP:0006572) | 2.20456203 |
| 67 | Renovascular hypertension (HP:0100817) | 2.19647113 |
| 68 | Hyperextensible skin (HP:0000974) | 2.16757633 |
| 69 | Distal lower limb muscle weakness (HP:0009053) | 2.16512558 |
| 70 | Renal salt wasting (HP:0000127) | 2.14279899 |
| 71 | Disproportionate tall stature (HP:0001519) | 2.12404344 |
| 72 | Neonatal short-limb short stature (HP:0008921) | 2.12223516 |
| 73 | Slender build (HP:0001533) | 2.12154791 |
| 74 | Bicuspid aortic valve (HP:0001647) | 2.10526398 |
| 75 | Abnormality of chloride homeostasis (HP:0011422) | 2.09160988 |
| 76 | Deep venous thrombosis (HP:0002625) | 2.09107066 |
| 77 | Asymmetry of the thorax (HP:0001555) | 2.08586477 |
| 78 | Morphological abnormality of the middle ear (HP:0008609) | 2.08505409 |
| 79 | Knee flexion contracture (HP:0006380) | 2.08300346 |
| 80 | Malnutrition (HP:0004395) | 2.06961575 |
| 81 | Obstructive sleep apnea (HP:0002870) | 2.05982459 |
| 82 | Broad ribs (HP:0000885) | 2.00866384 |
| 83 | Increased variability in muscle fiber diameter (HP:0003557) | 2.00358282 |
| 84 | Chorioretinal atrophy (HP:0000533) | 2.00307867 |
| 85 | Scapular winging (HP:0003691) | 1.98395652 |
| 86 | Achilles tendon contracture (HP:0001771) | 1.98154691 |
| 87 | Buphthalmos (HP:0000557) | 1.97931803 |
| 88 | Cavernous hemangioma (HP:0001048) | 1.97267043 |
| 89 | Wrist flexion contracture (HP:0001239) | 1.96472615 |
| 90 | Dilatation of the ascending aorta (HP:0005111) | 1.94910019 |
| 91 | Distal lower limb amyotrophy (HP:0008944) | 1.94176240 |
| 92 | Short clavicles (HP:0000894) | 1.91689075 |
| 93 | Generalized amyotrophy (HP:0003700) | 1.91628959 |
| 94 | Arterial tortuosity (HP:0005116) | 1.90327974 |
| 95 | Hypoplastic toenails (HP:0001800) | 1.90192063 |
| 96 | Deviation of the hallux (HP:0010051) | 1.90161075 |
| 97 | Vascular tortuosity (HP:0004948) | 1.89602476 |
| 98 | Mildly elevated creatine phosphokinase (HP:0008180) | 1.89170143 |
| 99 | Spondylolisthesis (HP:0003302) | 1.87611501 |
| 100 | Wide anterior fontanel (HP:0000260) | 1.87449717 |
| 101 | Mitral regurgitation (HP:0001653) | 1.87435316 |
| 102 | Short hallux (HP:0010109) | 1.87198841 |
| 103 | Abnormality of the radial head (HP:0003995) | 1.86646052 |
| 104 | Spinal rigidity (HP:0003306) | 1.86284285 |
| 105 | Distal upper limb amyotrophy (HP:0007149) | 1.84893254 |
| 106 | Upper limb amyotrophy (HP:0009129) | 1.84893254 |
| 107 | Hallux valgus (HP:0001822) | 1.84359754 |
| 108 | Abnormality of renin-angiotensin system (HP:0000847) | 1.84344297 |
| 109 | Infantile muscular hypotonia (HP:0008947) | 1.84339012 |
| 110 | Peritonitis (HP:0002586) | 1.83765803 |
| 111 | * Joint contractures involving the joints of the feet (HP:0100492) | 1.82989362 |
| 112 | * Flexion contracture of toe (HP:0005830) | 1.82989362 |
| 113 | Delayed cranial suture closure (HP:0000270) | 1.81931676 |
| 114 | Abnormality of the distal phalanx of the thumb (HP:0009617) | 1.81523682 |
| 115 | Hyperaldosteronism (HP:0000859) | 1.81170163 |
| 116 | Sprengel anomaly (HP:0000912) | 1.81133178 |
| 117 | Hypercalciuria (HP:0002150) | 1.80817142 |
| 118 | Increased connective tissue (HP:0009025) | 1.80725698 |
| 119 | Stridor (HP:0010307) | 1.80709716 |
| 120 | Aplasia of the musculature (HP:0100854) | 1.79147209 |
| 121 | Elbow flexion contracture (HP:0002987) | 1.78530537 |
| 122 | Flat cornea (HP:0007720) | 1.78528285 |
| 123 | Hepatoblastoma (HP:0002884) | 1.78337134 |
| 124 | Partial duplication of thumb phalanx (HP:0009944) | 1.78261104 |
| 125 | Soft skin (HP:0000977) | 1.78042668 |
| 126 | Hip contracture (HP:0003273) | 1.77049111 |
| 127 | Sparse lateral eyebrow (HP:0005338) | 1.76853284 |
| 128 | Aortic regurgitation (HP:0001659) | 1.76568615 |
| 129 | Hypoplasia of the iris (HP:0007676) | 1.76504513 |
| 130 | Abnormality of the parietal bone (HP:0002696) | 1.75896186 |
| 131 | Round ear (HP:0100830) | 1.75027657 |
| 132 | Abnormality of the 2nd finger (HP:0004100) | 1.74576830 |
| 133 | Overriding aorta (HP:0002623) | 1.73777601 |
| 134 | Protruding ear (HP:0000411) | 1.72815674 |
| 135 | Premature skin wrinkling (HP:0100678) | 1.72626120 |
| 136 | Back pain (HP:0003418) | 1.72603462 |
| 137 | Severe Myopia (HP:0011003) | 1.72390554 |
| 138 | Venous abnormality (HP:0002624) | 1.72342377 |
| 139 | Ectopia lentis (HP:0001083) | 1.71829823 |
| 140 | Hyperparathyroidism (HP:0000843) | 1.71197731 |
| 141 | Short nail (HP:0001799) | 1.71047019 |
| 142 | Abnormality of the acetabulum (HP:0003170) | 1.70355703 |
| 143 | Abnormality of the sella turcica (HP:0002679) | 1.70184669 |
| 144 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 1.69376107 |
| 145 | Bowel diverticulosis (HP:0005222) | 1.67419863 |
| 146 | Stroke (HP:0001297) | 1.66382631 |
| 147 | Arnold-Chiari malformation (HP:0002308) | 1.66276100 |
| 148 | Gout (HP:0001997) | 1.65069892 |
| 149 | Chondrocalcinosis (HP:0000934) | 1.64864081 |
| 150 | Wormian bones (HP:0002645) | 1.64529743 |
| 151 | Aplasia/Hypoplasia of the hallux (HP:0008362) | 1.64403691 |
| 152 | Osteolytic defects of the hand bones (HP:0009699) | 1.64213258 |
| 153 | Osteolytic defects of the phalanges of the hand (HP:0009771) | 1.64213258 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | AKT3 | 4.32312575 |
| 2 | MYLK | 4.11826490 |
| 3 | TIE1 | 3.95672593 |
| 4 | TRIB3 | 3.81084772 |
| 5 | TTN | 3.40357822 |
| 6 | LATS1 | 2.96843231 |
| 7 | DDR2 | 2.90747415 |
| 8 | EPHB2 | 2.89081269 |
| 9 | PDGFRA | 2.78075936 |
| 10 | PKN2 | 2.50487357 |
| 11 | SMG1 | 2.43581254 |
| 12 | WNK4 | 2.16211577 |
| 13 | TGFBR2 | 2.15726444 |
| 14 | ERN1 | 2.11277362 |
| 15 | RIPK1 | 2.06274631 |
| 16 | PTK6 | 2.04120117 |
| 17 | DMPK | 1.91007886 |
| 18 | LRRK2 | 1.71280630 |
| 19 | EPHA3 | 1.71234963 |
| 20 | PAK2 | 1.70555703 |
| 21 | MAP3K10 | 1.64556747 |
| 22 | SCYL2 | 1.63547353 |
| 23 | MET | 1.61689702 |
| 24 | MUSK | 1.61459119 |
| 25 | MST1R | 1.57910666 |
| 26 | EEF2K | 1.56244456 |
| 27 | SIK1 | 1.53305381 |
| 28 | EPHA2 | 1.48496567 |
| 29 | CDK12 | 1.46417468 |
| 30 | TESK1 | 1.43816356 |
| 31 | FER | 1.40111759 |
| 32 | LATS2 | 1.38153145 |
| 33 | ILK | 1.31922755 |
| 34 | IRAK3 | 1.30830658 |
| 35 | PAK4 | 1.24289359 |
| 36 | STK39 | 1.23866804 |
| 37 | TGFBR1 | 1.20808655 |
| 38 | BCKDK | 1.12942025 |
| 39 | STK38L | 1.12229736 |
| 40 | FLT3 | 1.11343592 |
| 41 | EPHB1 | 1.08319866 |
| 42 | PTK2 | 1.07398066 |
| 43 | FGFR4 | 1.04991776 |
| 44 | NME2 | 1.03889780 |
| 45 | BMX | 1.03525985 |
| 46 | LMTK2 | 1.01903435 |
| 47 | PDGFRB | 1.01571217 |
| 48 | KDR | 0.98619509 |
| 49 | FGFR2 | 0.97544582 |
| 50 | CAMK1G | 0.97023634 |
| 51 | TAOK3 | 0.91252424 |
| 52 | TLK1 | 0.90422276 |
| 53 | PTK2B | 0.89961963 |
| 54 | CHUK | 0.88720673 |
| 55 | ROCK1 | 0.85867664 |
| 56 | GRK1 | 0.83970548 |
| 57 | PAK3 | 0.81812467 |
| 58 | RPS6KA6 | 0.80987710 |
| 59 | DAPK3 | 0.79761889 |
| 60 | GSK3A | 0.79646562 |
| 61 | MAP3K2 | 0.75435913 |
| 62 | PRKD1 | 0.74414376 |
| 63 | GRK7 | 0.72632782 |
| 64 | DYRK1B | 0.71849269 |
| 65 | RET | 0.70687115 |
| 66 | WNK1 | 0.70671822 |
| 67 | CDK7 | 0.70525752 |
| 68 | PDK2 | 0.69334885 |
| 69 | PRPF4B | 0.69156578 |
| 70 | MTOR | 0.68141874 |
| 71 | GRK6 | 0.67941322 |
| 72 | CAMK1D | 0.67342101 |
| 73 | PRKD3 | 0.66883377 |
| 74 | ICK | 0.66020566 |
| 75 | MAP2K1 | 0.65950295 |
| 76 | FRK | 0.65222239 |
| 77 | OXSR1 | 0.64059501 |
| 78 | MAP2K2 | 0.63923521 |
| 79 | MELK | 0.63650266 |
| 80 | STK3 | 0.62902874 |
| 81 | ERBB2 | 0.61358403 |
| 82 | ROCK2 | 0.60572668 |
| 83 | MAPKAPK3 | 0.59646013 |
| 84 | CDC42BPA | 0.59609972 |
| 85 | NEK6 | 0.59151522 |
| 86 | NTRK1 | 0.58694438 |
| 87 | ERBB4 | 0.57878254 |
| 88 | LIMK1 | 0.56560762 |
| 89 | MAP3K6 | 0.56532770 |
| 90 | MAP3K7 | 0.56020731 |
| 91 | PHKG2 | 0.54522751 |
| 92 | PHKG1 | 0.54522751 |
| 93 | CDK8 | 0.51807420 |
| 94 | RPS6KA2 | 0.49114604 |
| 95 | MAPKAPK2 | 0.48410511 |
| 96 | AKT2 | 0.47715818 |
| 97 | FGFR1 | 0.46938722 |
| 98 | MAP3K3 | 0.45769104 |
| 99 | NEK9 | 0.44677557 |
| 100 | TRPM7 | 0.43483882 |
| 101 | TESK2 | 0.42664502 |
| 102 | HIPK2 | 0.42605512 |
| 103 | GRK5 | 0.42033708 |
| 104 | TAOK2 | 0.41203270 |
| 105 | PRKCH | 0.40704436 |
| 106 | CAMK2G | 0.40067816 |
| 107 | NUAK1 | 0.39650273 |
| 108 | FGFR3 | 0.39021767 |
| 109 | KSR2 | 0.38618938 |
| 110 | STK38 | 0.38417664 |
| 111 | PIK3CG | 0.37693378 |
| 112 | PIK3CA | 0.36546155 |
| 113 | CAMK2B | 0.36501817 |
| 114 | PRKD2 | 0.36233215 |
| 115 | WNK3 | 0.36058534 |
| 116 | MAPK7 | 0.35461583 |
| 117 | MAPK4 | 0.35430436 |
| 118 | MAPK11 | 0.35139391 |
| 119 | SRC | 0.35091150 |
| 120 | CAMKK1 | 0.34517448 |
| 121 | MARK2 | 0.33895324 |
| 122 | PDPK1 | 0.32854581 |
| 123 | RPS6KB2 | 0.32553617 |
| 124 | PIM2 | 0.31742923 |
| 125 | MAP2K3 | 0.31522606 |
| 126 | STK10 | 0.31517419 |
| 127 | TYRO3 | 0.29831316 |
| 128 | ADRBK1 | 0.29507299 |
| 129 | RPS6KC1 | 0.28865272 |
| 130 | RPS6KL1 | 0.28865272 |
| 131 | MOS | 0.28815979 |
| 132 | MAPK8 | 0.28503544 |
| 133 | EGFR | 0.27334089 |
| 134 | INSR | 0.26337332 |
| 135 | PDK1 | 0.26157371 |
| 136 | MARK3 | 0.24971315 |
| 137 | PRKCI | 0.24325895 |
| 138 | PRKG2 | 0.23665902 |
| 139 | JAK2 | 0.23562369 |
| 140 | PRKAA2 | 0.23265468 |
| 141 | ABL2 | 0.22994954 |
| 142 | PAK1 | 0.22701168 |
| 143 | FYN | 0.21890652 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ECM-receptor interaction_Homo sapiens_hsa04512 | 2.71313695 |
| 2 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 2.39015117 |
| 3 | Focal adhesion_Homo sapiens_hsa04510 | 2.36080368 |
| 4 | Protein digestion and absorption_Homo sapiens_hsa04974 | 2.20112585 |
| 5 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 2.05702271 |
| 6 | Thyroid cancer_Homo sapiens_hsa05216 | 2.02409080 |
| 7 | Hippo signaling pathway_Homo sapiens_hsa04390 | 1.92500721 |
| 8 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.87924639 |
| 9 | Basal cell carcinoma_Homo sapiens_hsa05217 | 1.85079684 |
| 10 | Adherens junction_Homo sapiens_hsa04520 | 1.76431152 |
| 11 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.72076571 |
| 12 | Tight junction_Homo sapiens_hsa04530 | 1.68433287 |
| 13 | Other glycan degradation_Homo sapiens_hsa00511 | 1.64204949 |
| 14 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 1.60082303 |
| 15 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 1.58997268 |
| 16 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.55351145 |
| 17 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 1.53861735 |
| 18 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 1.52841019 |
| 19 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 1.47901727 |
| 20 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 1.47122411 |
| 21 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.45603569 |
| 22 | Bladder cancer_Homo sapiens_hsa05219 | 1.42704029 |
| 23 | Notch signaling pathway_Homo sapiens_hsa04330 | 1.40813095 |
| 24 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.39199528 |
| 25 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 1.38439330 |
| 26 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.37479577 |
| 27 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 1.36506777 |
| 28 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.36198920 |
| 29 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 1.36053638 |
| 30 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.36043785 |
| 31 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.32816504 |
| 32 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.30189732 |
| 33 | Bile secretion_Homo sapiens_hsa04976 | 1.30009219 |
| 34 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.28497383 |
| 35 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.25541799 |
| 36 | Melanogenesis_Homo sapiens_hsa04916 | 1.23057508 |
| 37 | Axon guidance_Homo sapiens_hsa04360 | 1.22373198 |
| 38 | Amoebiasis_Homo sapiens_hsa05146 | 1.20210880 |
| 39 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 1.18416574 |
| 40 | Lysine degradation_Homo sapiens_hsa00310 | 1.17076946 |
| 41 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 1.16302072 |
| 42 | ErbB signaling pathway_Homo sapiens_hsa04012 | 1.13104299 |
| 43 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 1.10210292 |
| 44 | Insulin signaling pathway_Homo sapiens_hsa04910 | 1.09272945 |
| 45 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.06805104 |
| 46 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 1.06060010 |
| 47 | Renal cell carcinoma_Homo sapiens_hsa05211 | 1.05507759 |
| 48 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.04446083 |
| 49 | Insulin resistance_Homo sapiens_hsa04931 | 1.03088800 |
| 50 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 1.02577237 |
| 51 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 1.02414015 |
| 52 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.00790539 |
| 53 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 1.00078262 |
| 54 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.99327453 |
| 55 | Renin secretion_Homo sapiens_hsa04924 | 0.98710536 |
| 56 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.97985889 |
| 57 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.96381465 |
| 58 | Prion diseases_Homo sapiens_hsa05020 | 0.96299249 |
| 59 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.95119711 |
| 60 | Pathways in cancer_Homo sapiens_hsa05200 | 0.94285818 |
| 61 | Sulfur relay system_Homo sapiens_hsa04122 | 0.93999760 |
| 62 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.92769144 |
| 63 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.91738508 |
| 64 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.91312654 |
| 65 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.90842192 |
| 66 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.90631803 |
| 67 | Platelet activation_Homo sapiens_hsa04611 | 0.87847115 |
| 68 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.87464436 |
| 69 | Colorectal cancer_Homo sapiens_hsa05210 | 0.86472145 |
| 70 | Endometrial cancer_Homo sapiens_hsa05213 | 0.86294811 |
| 71 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.85577929 |
| 72 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.84844417 |
| 73 | Melanoma_Homo sapiens_hsa05218 | 0.84706943 |
| 74 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.84293717 |
| 75 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.82831929 |
| 76 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.82244873 |
| 77 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.79796063 |
| 78 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.79764528 |
| 79 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.79049003 |
| 80 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.78386339 |
| 81 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.77692465 |
| 82 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.77113881 |
| 83 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.76935485 |
| 84 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.76701335 |
| 85 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.75655480 |
| 86 | Prostate cancer_Homo sapiens_hsa05215 | 0.75280862 |
| 87 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.74925974 |
| 88 | Glioma_Homo sapiens_hsa05214 | 0.74511427 |
| 89 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.73426891 |
| 90 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.72909920 |
| 91 | Gap junction_Homo sapiens_hsa04540 | 0.71219197 |
| 92 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.70244592 |
| 93 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.69227660 |
| 94 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.68098268 |
| 95 | Endocytosis_Homo sapiens_hsa04144 | 0.67535612 |
| 96 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.66121491 |
| 97 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.65469688 |
| 98 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.65350737 |
| 99 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.64833014 |
| 100 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.64761660 |
| 101 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.64717533 |
| 102 | Mineral absorption_Homo sapiens_hsa04978 | 0.64475361 |
| 103 | Viral myocarditis_Homo sapiens_hsa05416 | 0.63769860 |
| 104 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.62334020 |
| 105 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.61166474 |
| 106 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.61146062 |
| 107 | Hepatitis C_Homo sapiens_hsa05160 | 0.60727372 |
| 108 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.60113947 |
| 109 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.59199617 |
| 110 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.59050585 |
| 111 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.59029186 |
| 112 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.58552282 |
| 113 | HTLV-I infection_Homo sapiens_hsa05166 | 0.57304693 |
| 114 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.57261467 |
| 115 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.57260544 |
| 116 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.56064868 |
| 117 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.55791083 |
| 118 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.55649077 |
| 119 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.55383345 |
| 120 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.54742938 |
| 121 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.54728167 |
| 122 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.53768542 |
| 123 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.53123741 |
| 124 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.52612188 |
| 125 | Retinol metabolism_Homo sapiens_hsa00830 | 0.52464612 |
| 126 | Hepatitis B_Homo sapiens_hsa05161 | 0.52314081 |
| 127 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.52219090 |
| 128 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.52106994 |
| 129 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.52018378 |
| 130 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.51467586 |
| 131 | Lysosome_Homo sapiens_hsa04142 | 0.49526381 |
| 132 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.49030185 |
| 133 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.46678500 |
| 134 | Galactose metabolism_Homo sapiens_hsa00052 | 0.46111846 |
| 135 | Cocaine addiction_Homo sapiens_hsa05030 | 0.44565152 |
| 136 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.44044475 |
| 137 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.43065236 |

