

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | paraxial mesoderm development (GO:0048339) | 4.56566244 |
| 2 | bone trabecula formation (GO:0060346) | 4.51038953 |
| 3 | polarized epithelial cell differentiation (GO:0030859) | 4.50737581 |
| 4 | heterochromatin organization (GO:0070828) | 4.35203332 |
| 5 | regulation of gene silencing by RNA (GO:0060966) | 4.28408154 |
| 6 | regulation of posttranscriptional gene silencing (GO:0060147) | 4.28408154 |
| 7 | regulation of gene silencing by miRNA (GO:0060964) | 4.28408154 |
| 8 | notochord development (GO:0030903) | 4.28097529 |
| 9 | sequestering of extracellular ligand from receptor (GO:0035581) | 4.17054796 |
| 10 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 4.13418343 |
| 11 | regulation of mesoderm development (GO:2000380) | 4.08425673 |
| 12 | regulation of cardioblast differentiation (GO:0051890) | 4.06494323 |
| 13 | establishment of apical/basal cell polarity (GO:0035089) | 4.00837255 |
| 14 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 3.92477903 |
| 15 | negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147) | 3.89982518 |
| 16 | negative regulation of cell fate specification (GO:0009996) | 3.71957950 |
| 17 | atrioventricular valve morphogenesis (GO:0003181) | 3.69209427 |
| 18 | pre-miRNA processing (GO:0031054) | 3.66620383 |
| 19 | protein localization to kinetochore (GO:0034501) | 3.55394371 |
| 20 | anterior/posterior axis specification, embryo (GO:0008595) | 3.43974443 |
| 21 | establishment or maintenance of monopolar cell polarity (GO:0061339) | 3.39431318 |
| 22 | establishment of monopolar cell polarity (GO:0061162) | 3.39431318 |
| 23 | convergent extension (GO:0060026) | 3.31649939 |
| 24 | * regulation of establishment of planar polarity (GO:0090175) | 3.30595421 |
| 25 | outer ear morphogenesis (GO:0042473) | 3.29173804 |
| 26 | midgut development (GO:0007494) | 3.28284921 |
| 27 | DNA replication-dependent nucleosome assembly (GO:0006335) | 3.24522418 |
| 28 | DNA replication-dependent nucleosome organization (GO:0034723) | 3.24522418 |
| 29 | negative regulation of epidermis development (GO:0045683) | 3.22938065 |
| 30 | nuclear pore organization (GO:0006999) | 3.19317412 |
| 31 | regulation of telomere maintenance via telomerase (GO:0032210) | 3.19007732 |
| 32 | nuclear pore complex assembly (GO:0051292) | 3.18389426 |
| 33 | body morphogenesis (GO:0010171) | 3.16853162 |
| 34 | primitive streak formation (GO:0090009) | 3.16700696 |
| 35 | positive regulation of SMAD protein import into nucleus (GO:0060391) | 3.16194807 |
| 36 | cell migration involved in heart development (GO:0060973) | 3.15124246 |
| 37 | DNA unwinding involved in DNA replication (GO:0006268) | 3.13634881 |
| 38 | somite rostral/caudal axis specification (GO:0032525) | 3.13313586 |
| 39 | regulation of hippo signaling (GO:0035330) | 3.10837646 |
| 40 | ribosomal small subunit assembly (GO:0000028) | 3.08798963 |
| 41 | chromatin assembly (GO:0031497) | 3.08630925 |
| 42 | tooth mineralization (GO:0034505) | 3.08458082 |
| 43 | COPI coating of Golgi vesicle (GO:0048205) | 3.05539430 |
| 44 | Golgi transport vesicle coating (GO:0048200) | 3.05539430 |
| 45 | protein heterotrimerization (GO:0070208) | 3.01728767 |
| 46 | signal transduction involved in regulation of gene expression (GO:0023019) | 2.99792887 |
| 47 | regulation of apoptotic process involved in morphogenesis (GO:1902337) | 2.99067665 |
| 48 | regulation of gastrulation (GO:0010470) | 2.98665519 |
| 49 | atrial septum morphogenesis (GO:0060413) | 2.97399840 |
| 50 | branching involved in salivary gland morphogenesis (GO:0060445) | 2.97295303 |
| 51 | mitotic sister chromatid segregation (GO:0000070) | 2.97071192 |
| 52 | cellular response to BMP stimulus (GO:0071773) | 2.95831557 |
| 53 | response to BMP (GO:0071772) | 2.95831557 |
| 54 | maturation of SSU-rRNA (GO:0030490) | 2.95382379 |
| 55 | negative regulation of cardiac muscle cell apoptotic process (GO:0010667) | 2.94364601 |
| 56 | negative regulation of embryonic development (GO:0045992) | 2.93565708 |
| 57 | regulation of cell fate specification (GO:0042659) | 2.92898338 |
| 58 | mesenchyme development (GO:0060485) | 2.92654522 |
| 59 | proximal/distal pattern formation (GO:0009954) | 2.92375710 |
| 60 | regulation of transcription from RNA polymerase II promoter involved in heart development (GO:190121 | 2.91120224 |
| 61 | gonadal mesoderm development (GO:0007506) | 2.91107645 |
| 62 | outflow tract septum morphogenesis (GO:0003148) | 2.89741121 |
| 63 | chondrocyte development (GO:0002063) | 2.89502228 |
| 64 | histone H4-K12 acetylation (GO:0043983) | 2.86663716 |
| 65 | trophectodermal cell differentiation (GO:0001829) | 2.86468181 |
| 66 | regulation of stem cell maintenance (GO:2000036) | 2.86417902 |
| 67 | regulation of Wnt signaling pathway involved in heart development (GO:0003307) | 2.85666673 |
| 68 | regulation of SMAD protein import into nucleus (GO:0060390) | 2.84766933 |
| 69 | formation of translation preinitiation complex (GO:0001731) | 2.83474069 |
| 70 | regulation of branching involved in prostate gland morphogenesis (GO:0060687) | 2.82092541 |
| 71 | axon extension involved in axon guidance (GO:0048846) | 2.81286163 |
| 72 | neuron projection extension involved in neuron projection guidance (GO:1902284) | 2.81286163 |
| 73 | G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199 | 2.80748874 |
| 74 | anterior/posterior axis specification (GO:0009948) | 2.80673139 |
| 75 | positive regulation of catenin import into nucleus (GO:0035413) | 2.80098984 |
| 76 | dorsal/ventral axis specification (GO:0009950) | 2.80098296 |
| 77 | ribosomal small subunit biogenesis (GO:0042274) | 2.79682857 |
| 78 | cochlea morphogenesis (GO:0090103) | 2.79254470 |
| 79 | regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095) | 2.78737382 |
| 80 | sister chromatid segregation (GO:0000819) | 2.78460798 |
| 81 | lateral sprouting from an epithelium (GO:0060601) | 2.77819109 |
| 82 | negative regulation of G2/M transition of mitotic cell cycle (GO:0010972) | 2.75449918 |
| 83 | regulation of intracellular estrogen receptor signaling pathway (GO:0033146) | 2.74333579 |
| 84 | doxorubicin metabolic process (GO:0044598) | 2.73317560 |
| 85 | daunorubicin metabolic process (GO:0044597) | 2.73317560 |
| 86 | polyketide metabolic process (GO:0030638) | 2.73317560 |
| 87 | maintenance of protein localization in endoplasmic reticulum (GO:0035437) | 2.72336536 |
| 88 | head development (GO:0060322) | 2.72096136 |
| 89 | negative regulation of activin receptor signaling pathway (GO:0032926) | 2.72027752 |
| 90 | hippo signaling (GO:0035329) | 2.72019259 |
| 91 | cell migration involved in gastrulation (GO:0042074) | 2.71869863 |
| 92 | peptidyl-arginine omega-N-methylation (GO:0035247) | 2.68460880 |
| 93 | embryonic skeletal joint morphogenesis (GO:0060272) | 2.67315189 |
| 94 | histone arginine methylation (GO:0034969) | 2.67042207 |
| 95 | intestinal epithelial cell development (GO:0060576) | 2.66786189 |
| 96 | cell proliferation involved in metanephros development (GO:0072203) | 2.66580570 |
| 97 | viral transcription (GO:0019083) | 2.65406097 |
| 98 | establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197) | 2.64997055 |
| 99 | DNA replication checkpoint (GO:0000076) | 2.64233659 |
| 100 | maternal placenta development (GO:0001893) | 2.63960116 |
| 101 | folic acid-containing compound biosynthetic process (GO:0009396) | 2.63663014 |
| 102 | regulation of mammary gland epithelial cell proliferation (GO:0033599) | 2.63537470 |
| 103 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.63513612 |
| 104 | negative regulation of cell fate commitment (GO:0010454) | 2.62853039 |
| 105 | positive regulation of smoothened signaling pathway (GO:0045880) | 2.62211368 |
| 106 | muscle organ morphogenesis (GO:0048644) | 2.62157416 |
| 107 | embryonic foregut morphogenesis (GO:0048617) | 2.61914046 |
| 108 | negative regulation of chondrocyte differentiation (GO:0032331) | 2.60987398 |
| 109 | regulation of nuclear cell cycle DNA replication (GO:0033262) | 2.60896062 |
| 110 | mRNA stabilization (GO:0048255) | 2.59056186 |
| 111 | RNA stabilization (GO:0043489) | 2.59056186 |
| 112 | negative regulation of striated muscle cell apoptotic process (GO:0010664) | 2.57769579 |
| 113 | translational termination (GO:0006415) | 2.57540356 |
| 114 | negative regulation of androgen receptor signaling pathway (GO:0060766) | 2.57356167 |
| 115 | anatomical structure regression (GO:0060033) | 2.57347458 |
| 116 | protein retention in ER lumen (GO:0006621) | 2.56037771 |
| 117 | collagen fibril organization (GO:0030199) | 2.55461151 |
| 118 | branching involved in mammary gland duct morphogenesis (GO:0060444) | 2.55323623 |
| 119 | * non-canonical Wnt signaling pathway (GO:0035567) | 2.55304314 |
| 120 | negative regulation of cartilage development (GO:0061037) | 2.54912159 |
| 121 | mesenchymal cell proliferation (GO:0010463) | 2.54697608 |
| 122 | positive regulation of gastrulation (GO:2000543) | 2.54583978 |
| 123 | protein localization to chromosome, centromeric region (GO:0071459) | 2.54500881 |
| 124 | hindlimb morphogenesis (GO:0035137) | 2.53462931 |
| 125 | regulation of non-canonical Wnt signaling pathway (GO:2000050) | 2.53340528 |
| 126 | pericardium development (GO:0060039) | 2.52466184 |
| 127 | basement membrane organization (GO:0071711) | 2.51400615 |
| 128 | regulation of translational fidelity (GO:0006450) | 2.51298866 |
| 129 | DNA duplex unwinding (GO:0032508) | 2.50191357 |
| 130 | bone morphogenesis (GO:0060349) | 2.49911562 |
| 131 | establishment of tissue polarity (GO:0007164) | 2.49798439 |
| 132 | establishment of planar polarity (GO:0001736) | 2.49798439 |
| 133 | mitotic chromosome condensation (GO:0007076) | 2.49265807 |
| 134 | cell surface receptor signaling pathway involved in heart development (GO:0061311) | 2.48251209 |
| 135 | collagen metabolic process (GO:0032963) | 2.47734216 |
| 136 | DNA geometric change (GO:0032392) | 2.47532453 |
| 137 | histone H4-K8 acetylation (GO:0043982) | 2.47307459 |
| 138 | histone H4-K5 acetylation (GO:0043981) | 2.47307459 |
| 139 | craniofacial suture morphogenesis (GO:0097094) | 2.47094068 |
| 140 | embryonic hindlimb morphogenesis (GO:0035116) | 2.45836595 |
| 141 | regulation of catenin import into nucleus (GO:0035412) | 2.44626922 |
| 142 | collagen catabolic process (GO:0030574) | 2.44567806 |
| 143 | * Wnt signaling pathway, planar cell polarity pathway (GO:0060071) | 2.44354233 |
| 144 | homocysteine metabolic process (GO:0050667) | 2.44097487 |
| 145 | positive regulation of cardiac muscle cell proliferation (GO:0060045) | 2.44088579 |
| 146 | chondrocyte proliferation (GO:0035988) | 2.43857318 |
| 147 | cell fate commitment involved in formation of primary germ layer (GO:0060795) | 2.43500297 |
| 148 | mammary gland development (GO:0030879) | 2.43475065 |
| 149 | pore complex assembly (GO:0046931) | 2.43473035 |
| 150 | embryonic body morphogenesis (GO:0010172) | 2.43179075 |
| 151 | digestive tract morphogenesis (GO:0048546) | 2.43106861 |
| 152 | negative regulation of telomerase activity (GO:0051974) | 2.42949155 |
| 153 | negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037) | 2.41826942 |
| 154 | pituitary gland development (GO:0021983) | 2.41138881 |
| 155 | regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091 | 2.40560536 |
| 156 | embryonic camera-type eye development (GO:0031076) | 2.40122531 |
| 157 | embryonic forelimb morphogenesis (GO:0035115) | 2.39679072 |
| 158 | middle ear morphogenesis (GO:0042474) | 2.39324780 |
| 159 | endodermal cell differentiation (GO:0035987) | 2.37783391 |
| 160 | negative regulation of DNA repair (GO:0045738) | 2.35568744 |
| 161 | nodal signaling pathway (GO:0038092) | 2.35550586 |
| 162 | regulation of heart morphogenesis (GO:2000826) | 2.34097280 |
| 163 | multicellular organismal macromolecule metabolic process (GO:0044259) | 2.32300790 |
| 164 | lung-associated mesenchyme development (GO:0060484) | 2.27875945 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E2F7_22180533_ChIP-Seq_HELA_Human | 4.80458132 |
| 2 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 4.33374670 |
| 3 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 4.33374670 |
| 4 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 4.33374670 |
| 5 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 3.28915764 |
| 6 | MYC_18555785_ChIP-Seq_MESCs_Mouse | 3.11034578 |
| 7 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 3.06775631 |
| 8 | ZFP281_18358816_ChIP-ChIP_MESCs_Mouse | 2.96012144 |
| 9 | POU5F1_18700969_ChIP-ChIP_MESCs_Mouse | 2.70038731 |
| 10 | NANOG_18700969_ChIP-ChIP_MESCs_Mouse | 2.66831731 |
| 11 | TCF3_18692474_ChIP-Seq_MEFs_Mouse | 2.65799238 |
| 12 | SMAD1_18555785_ChIP-Seq_MESCs_Mouse | 2.54893449 |
| 13 | ZIC3_20872845_ChIP-ChIP_MESCs_Mouse | 2.53812344 |
| 14 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 2.47713843 |
| 15 | MYC_19079543_ChIP-ChIP_MESCs_Mouse | 2.41932461 |
| 16 | TCF3_18692474_ChIP-Seq_MESCs_Mouse | 2.35860568 |
| 17 | SOX2_18358816_ChIP-ChIP_MESCs_Mouse | 2.30120338 |
| 18 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 2.28216334 |
| 19 | * SMAD3_22036565_ChIP-Seq_ESCs_Mouse | 2.28030978 |
| 20 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 2.26502785 |
| 21 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 2.22637887 |
| 22 | NACC1_18358816_ChIP-ChIP_MESCs_Mouse | 2.03582723 |
| 23 | MYC_19030024_ChIP-ChIP_MESCs_Mouse | 2.02631201 |
| 24 | EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse | 1.97325410 |
| 25 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.93981567 |
| 26 | ZFP281_18757296_ChIP-ChIP_E14_Mouse | 1.88124794 |
| 27 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 1.85552036 |
| 28 | NANOG_18555785_ChIP-Seq_MESCs_Mouse | 1.85503635 |
| 29 | NANOG_18347094_ChIP-ChIP_MESCs_Mouse | 1.83884018 |
| 30 | * KLF4_18358816_ChIP-ChIP_MESCs_Mouse | 1.83462358 |
| 31 | * PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.80584753 |
| 32 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.78925154 |
| 33 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.78021827 |
| 34 | SALL4_18804426_ChIP-ChIP_MESCs_Mouse | 1.77165065 |
| 35 | SOX2_18555785_ChIP-Seq_MESCs_Mouse | 1.71747236 |
| 36 | POU5F1_18358816_ChIP-ChIP_MESCs_Mouse | 1.70056878 |
| 37 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.69749269 |
| 38 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.67470852 |
| 39 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.67093801 |
| 40 | MYBL2_22936984_ChIP-ChIP_MESCs_Mouse | 1.65180594 |
| 41 | * ISL1_27105846_Chip-Seq_CPCs_Mouse | 1.62899321 |
| 42 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 1.62164591 |
| 43 | MYC_18358816_ChIP-ChIP_MESCs_Mouse | 1.60789347 |
| 44 | TRIM28_21343339_ChIP-Seq_HEK293_Human | 1.59744607 |
| 45 | * RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.59230650 |
| 46 | KLF4_19030024_ChIP-ChIP_MESCs_Mouse | 1.56969487 |
| 47 | ZFP281_27345836_Chip-Seq_ESCs_Mouse | 1.53547160 |
| 48 | * POU5F1_16518401_ChIP-PET_MESCs_Mouse | 1.53278695 |
| 49 | NELFA_20434984_ChIP-Seq_ESCs_Mouse | 1.53230567 |
| 50 | NANOG_21062744_ChIP-ChIP_HESCs_Human | 1.52052165 |
| 51 | ZNF263_19887448_ChIP-Seq_K562_Human | 1.51151455 |
| 52 | NR0B1_18358816_ChIP-ChIP_MESCs_Mouse | 1.50563935 |
| 53 | TCF3_18347094_ChIP-ChIP_MESCs_Mouse | 1.50230707 |
| 54 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.47261423 |
| 55 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 1.46909771 |
| 56 | STAT3_1855785_ChIP-Seq_MESCs_Mouse | 1.46784969 |
| 57 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.43453539 |
| 58 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.42956225 |
| 59 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.42930123 |
| 60 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.42930123 |
| 61 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.42873988 |
| 62 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.41314979 |
| 63 | NANOG_18358816_ChIP-ChIP_MESCs_Mouse | 1.40132217 |
| 64 | CCND1_20090754_ChIP-ChIP_RETINA_Mouse | 1.39583736 |
| 65 | SOX2_19030024_ChIP-ChIP_MESCs_Mouse | 1.39412056 |
| 66 | MYC_22102868_ChIP-Seq_BL_Human | 1.38772837 |
| 67 | XRN2_22483619_ChIP-Seq_HELA_Human | 1.38326197 |
| 68 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.37796034 |
| 69 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.37627210 |
| 70 | SOX2_18692474_ChIP-Seq_MEFs_Mouse | 1.36216472 |
| 71 | NANOG_16153702_ChIP-ChIP_HESCs_Human | 1.35377766 |
| 72 | * ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.34417428 |
| 73 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 1.33765206 |
| 74 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.31684768 |
| 75 | * ZFX_18555785_ChIP-Seq_MESCs_Mouse | 1.28738555 |
| 76 | WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse | 1.28277593 |
| 77 | E2F1_18555785_ChIP-Seq_MESCs_Mouse | 1.28208042 |
| 78 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 1.27505061 |
| 79 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.26405052 |
| 80 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.25216897 |
| 81 | SOX2_18692474_ChIP-Seq_MESCs_Mouse | 1.24732265 |
| 82 | * OCT4_18692474_ChIP-Seq_MEFs_Mouse | 1.22961248 |
| 83 | ESR1_15608294_ChIP-ChIP_MCF-7_Human | 1.22642130 |
| 84 | TP53_20018659_ChIP-ChIP_R1E_Mouse | 1.22334590 |
| 85 | RING1B_27294783_Chip-Seq_NPCs_Mouse | 1.22242202 |
| 86 | * PRDM14_21183938_ChIP-Seq_MESCs_Mouse | 1.19926811 |
| 87 | RUNX2_24764292_ChIP-Seq_MC3T3_Mouse | 1.18341058 |
| 88 | NANOG_18692474_ChIP-Seq_MEFs_Mouse | 1.17172749 |
| 89 | EOMES_21245162_ChIP-Seq_HESCs_Human | 1.17129081 |
| 90 | MYCN_18555785_ChIP-Seq_MESCs_Mouse | 1.17020832 |
| 91 | * SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 1.16861758 |
| 92 | CLOCK_20551151_ChIP-Seq_293T_Human | 1.16861335 |
| 93 | * KLF4_18555785_ChIP-Seq_MESCs_Mouse | 1.15961844 |
| 94 | CREB1_15753290_ChIP-ChIP_HEK293T_Human | 1.15816972 |
| 95 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.15178221 |
| 96 | EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse | 1.14314287 |
| 97 | TTF2_22483619_ChIP-Seq_HELA_Human | 1.12846158 |
| 98 | TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse | 1.12218423 |
| 99 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.11821570 |
| 100 | DACH1_20351289_ChIP-Seq_MDA-MB-231_Human | 1.11074233 |
| 101 | POU5F1_18347094_ChIP-ChIP_MESCs_Mouse | 1.11047006 |
| 102 | NANOG_18692474_ChIP-Seq_MESCs_Mouse | 1.10933718 |
| 103 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.10439611 |
| 104 | WT1_19549856_ChIP-ChIP_CCG9911_Human | 1.10113222 |
| 105 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.09907853 |
| 106 | ERG_21242973_ChIP-ChIP_JURKAT_Human | 1.08119132 |
| 107 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.07369162 |
| 108 | TCF3_18467660_ChIP-ChIP_MESCs_Mouse | 1.06780216 |
| 109 | * POU5F1_18692474_ChIP-Seq_MESCs_Mouse | 1.06717035 |
| 110 | * CNOT3_19339689_ChIP-ChIP_MESCs_Mouse | 1.06159382 |
| 111 | E2F1_21310950_ChIP-Seq_MCF-7_Human | 1.05940395 |
| 112 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 1.05389051 |
| 113 | TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.05104401 |
| 114 | EOMES_20176728_ChIP-ChIP_TSCs_Mouse | 1.03987100 |
| 115 | TBX3_20139965_ChIP-Seq_MESCs_Mouse | 1.03790941 |
| 116 | RING1B_27294783_Chip-Seq_ESCs_Mouse | 1.02538612 |
| 117 | TBX3_20139965_ChIP-Seq_ESCs_Mouse | 1.02208941 |
| 118 | * TRIM28_19339689_ChIP-ChIP_MESCs_Mouse | 1.02044309 |
| 119 | CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat | 1.02009316 |
| 120 | * NANOG_16518401_ChIP-PET_MESCs_Mouse | 1.01636111 |
| 121 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 1.01170882 |
| 122 | SOX17_20123909_ChIP-Seq_XEN_Mouse | 1.00926318 |
| 123 | CHD1_26751641_Chip-Seq_LNCaP_Human | 1.00766659 |
| 124 | PRDM5_23873026_ChIP-Seq_MEFs_Mouse | 1.00479742 |
| 125 | TP53_22127205_ChIP-Seq_IMR90_Human | 0.99659664 |
| 126 | KDM2B_26808549_Chip-Seq_K562_Human | 0.99063954 |
| 127 | FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human | 0.98967654 |
| 128 | RACK7_27058665_Chip-Seq_MCF-7_Human | 0.96486963 |
| 129 | THAP11_20581084_ChIP-Seq_MESCs_Mouse | 0.95937095 |
| 130 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 0.95600563 |
| 131 | TFEB_21752829_ChIP-Seq_HELA_Human | 0.93496649 |
| 132 | ATF3_27146783_Chip-Seq_COLON_Human | 0.93150810 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003123_paternal_imprinting | 3.22887339 |
| 2 | MP0003122_maternal_imprinting | 3.18180312 |
| 3 | MP0003705_abnormal_hypodermis_morpholog | 3.10583316 |
| 4 | MP0008438_abnormal_cutaneous_collagen | 2.92860353 |
| 5 | * MP0010030_abnormal_orbit_morphology | 2.67686300 |
| 6 | MP0003283_abnormal_digestive_organ | 2.66457442 |
| 7 | MP0003121_genomic_imprinting | 2.30923251 |
| 8 | MP0005503_abnormal_tendon_morphology | 2.28942390 |
| 9 | MP0003890_abnormal_embryonic-extraembry | 2.21902027 |
| 10 | MP0000678_abnormal_parathyroid_gland | 2.16192148 |
| 11 | MP0003119_abnormal_digestive_system | 2.11147855 |
| 12 | MP0005275_abnormal_skin_tensile | 2.01832180 |
| 13 | MP0010352_gastrointestinal_tract_polyps | 2.00674615 |
| 14 | MP0009053_abnormal_anal_canal | 1.96661200 |
| 15 | MP0004957_abnormal_blastocyst_morpholog | 1.94150569 |
| 16 | MP0003385_abnormal_body_wall | 1.93770732 |
| 17 | MP0005257_abnormal_intraocular_pressure | 1.86308657 |
| 18 | MP0003941_abnormal_skin_development | 1.84641347 |
| 19 | MP0003942_abnormal_urinary_system | 1.83093485 |
| 20 | * MP0000049_abnormal_middle_ear | 1.82021591 |
| 21 | MP0000428_abnormal_craniofacial_morphol | 1.80139787 |
| 22 | MP0004272_abnormal_basement_membrane | 1.79843749 |
| 23 | MP0005623_abnormal_meninges_morphology | 1.79581471 |
| 24 | MP0002249_abnormal_larynx_morphology | 1.78842032 |
| 25 | MP0004264_abnormal_extraembryonic_tissu | 1.78715158 |
| 26 | * MP0002932_abnormal_joint_morphology | 1.74263606 |
| 27 | MP0009250_abnormal_appendicular_skeleto | 1.67365843 |
| 28 | MP0002653_abnormal_ependyma_morphology | 1.64613735 |
| 29 | MP0001293_anophthalmia | 1.64310500 |
| 30 | MP0005076_abnormal_cell_differentiation | 1.57837265 |
| 31 | MP0000566_synostosis | 1.57400845 |
| 32 | * MP0005508_abnormal_skeleton_morphology | 1.57166428 |
| 33 | MP0004197_abnormal_fetal_growth/weight/ | 1.56597228 |
| 34 | MP0000537_abnormal_urethra_morphology | 1.56254549 |
| 35 | * MP0002085_abnormal_embryonic_tissue | 1.56041578 |
| 36 | MP0002084_abnormal_developmental_patter | 1.55553557 |
| 37 | * MP0003935_abnormal_craniofacial_develop | 1.55029223 |
| 38 | MP0005380_embryogenesis_phenotype | 1.51488681 |
| 39 | MP0001672_abnormal_embryogenesis/_devel | 1.51488681 |
| 40 | MP0009379_abnormal_foot_pigmentation | 1.50867972 |
| 41 | * MP0003755_abnormal_palate_morphology | 1.49036037 |
| 42 | MP0000534_abnormal_ureter_morphology | 1.46954770 |
| 43 | * MP0003937_abnormal_limbs/digits/tail_de | 1.46182264 |
| 44 | MP0006054_spinal_hemorrhage | 1.45925923 |
| 45 | MP0003279_aneurysm | 1.44635404 |
| 46 | MP0000762_abnormal_tongue_morphology | 1.43223592 |
| 47 | MP0004233_abnormal_muscle_weight | 1.43156185 |
| 48 | MP0004133_heterotaxia | 1.38153211 |
| 49 | MP0002088_abnormal_embryonic_growth/wei | 1.37820891 |
| 50 | MP0003984_embryonic_growth_retardation | 1.36942536 |
| 51 | * MP0000432_abnormal_head_morphology | 1.35941530 |
| 52 | * MP0002116_abnormal_craniofacial_bone | 1.34339188 |
| 53 | MP0002938_white_spotting | 1.33789141 |
| 54 | MP0001849_ear_inflammation | 1.33604578 |
| 55 | MP0001299_abnormal_eye_distance/ | 1.30908042 |
| 56 | * MP0002111_abnormal_tail_morphology | 1.29430889 |
| 57 | MP0008057_abnormal_DNA_replication | 1.29318497 |
| 58 | * MP0002114_abnormal_axial_skeleton | 1.28287492 |
| 59 | MP0002877_abnormal_melanocyte_morpholog | 1.27580515 |
| 60 | MP0006292_abnormal_olfactory_placode | 1.27475049 |
| 61 | MP0005367_renal/urinary_system_phenotyp | 1.26240803 |
| 62 | MP0000516_abnormal_urinary_system | 1.26240803 |
| 63 | MP0002086_abnormal_extraembryonic_tissu | 1.25309928 |
| 64 | MP0008004_abnormal_stomach_pH | 1.23878630 |
| 65 | MP0008932_abnormal_embryonic_tissue | 1.22556634 |
| 66 | MP0001730_embryonic_growth_arrest | 1.21951051 |
| 67 | * MP0001697_abnormal_embryo_size | 1.20200808 |
| 68 | MP0003077_abnormal_cell_cycle | 1.19176671 |
| 69 | MP0000350_abnormal_cell_proliferation | 1.18717669 |
| 70 | MP0003566_abnormal_cell_adhesion | 1.16514832 |
| 71 | MP0002282_abnormal_trachea_morphology | 1.14733301 |
| 72 | * MP0002233_abnormal_nose_morphology | 1.12449820 |
| 73 | * MP0000163_abnormal_cartilage_morphology | 1.11947645 |
| 74 | MP0003115_abnormal_respiratory_system | 1.11263012 |
| 75 | MP0002092_abnormal_eye_morphology | 1.11084959 |
| 76 | MP0005248_abnormal_Harderian_gland | 1.10013709 |
| 77 | MP0003693_abnormal_embryo_hatching | 1.09562928 |
| 78 | MP0005394_taste/olfaction_phenotype | 1.08344818 |
| 79 | MP0005499_abnormal_olfactory_system | 1.08344818 |
| 80 | MP0003111_abnormal_nucleus_morphology | 1.07994341 |
| 81 | MP0002254_reproductive_system_inflammat | 1.07918156 |
| 82 | MP0003861_abnormal_nervous_system | 1.07889534 |
| 83 | MP0004858_abnormal_nervous_system | 1.07279428 |
| 84 | MP0002108_abnormal_muscle_morphology | 1.07180918 |
| 85 | * MP0002109_abnormal_limb_morphology | 1.06272407 |
| 86 | MP0003567_abnormal_fetal_cardiomyocyte | 1.06176072 |
| 87 | MP0002697_abnormal_eye_size | 1.03404082 |
| 88 | * MP0009703_decreased_birth_body | 1.03013909 |
| 89 | MP0005023_abnormal_wound_healing | 1.02808160 |
| 90 | MP0002127_abnormal_cardiovascular_syste | 1.02793622 |
| 91 | MP0008007_abnormal_cellular_replicative | 1.00804557 |
| 92 | MP0001286_abnormal_eye_development | 1.00738389 |
| 93 | MP0001958_emphysema | 1.00042579 |
| 94 | MP0002925_abnormal_cardiovascular_devel | 0.99297288 |
| 95 | MP0002080_prenatal_lethality | 0.97237727 |
| 96 | MP0005197_abnormal_uvea_morphology | 0.94734246 |
| 97 | MP0000462_abnormal_digestive_system | 0.93117129 |
| 98 | MP0010094_abnormal_chromosome_stability | 0.91913717 |
| 99 | MP0000733_abnormal_muscle_development | 0.91710344 |
| 100 | MP0003315_abnormal_perineum_morphology | 0.90555638 |
| 101 | MP0009672_abnormal_birth_weight | 0.87304185 |
| 102 | MP0008789_abnormal_olfactory_epithelium | 0.87093907 |
| 103 | MP0003938_abnormal_ear_development | 0.85941625 |
| 104 | MP0002060_abnormal_skin_morphology | 0.83330677 |
| 105 | MP0002751_abnormal_autonomic_nervous | 0.83137854 |
| 106 | MP0005391_vision/eye_phenotype | 0.82716899 |
| 107 | MP0000767_abnormal_smooth_muscle | 0.82338229 |
| 108 | * MP0002115_abnormal_skeleton_extremities | 0.81198949 |
| 109 | * MP0002896_abnormal_bone_mineralization | 0.78391572 |
| 110 | MP0001346_abnormal_lacrimal_gland | 0.78027614 |
| 111 | MP0009384_cardiac_valve_regurgitation | 0.78012435 |
| 112 | MP0000579_abnormal_nail_morphology | 0.77393386 |
| 113 | * MP0002081_perinatal_lethality | 0.75451945 |
| 114 | MP0005193_abnormal_anterior_eye | 0.71033639 |
| 115 | MP0001661_extended_life_span | 0.70307800 |
| 116 | MP0000751_myopathy | 0.70237774 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Protrusio acetabuli (HP:0003179) | 4.41733956 |
| 2 | Hepatoblastoma (HP:0002884) | 3.84018288 |
| 3 | Premature rupture of membranes (HP:0001788) | 3.80310098 |
| 4 | Bilateral microphthalmos (HP:0007633) | 3.44095691 |
| 5 | Shallow orbits (HP:0000586) | 3.10944032 |
| 6 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 3.01715495 |
| 7 | Short 4th metacarpal (HP:0010044) | 3.01715495 |
| 8 | Anophthalmia (HP:0000528) | 2.92830621 |
| 9 | Ependymoma (HP:0002888) | 2.91427877 |
| 10 | * Renal duplication (HP:0000075) | 2.79124478 |
| 11 | Selective tooth agenesis (HP:0001592) | 2.75483912 |
| 12 | Ankle contracture (HP:0006466) | 2.72665068 |
| 13 | Short humerus (HP:0005792) | 2.68038015 |
| 14 | Aplasia/hypoplasia of the humerus (HP:0006507) | 2.64922408 |
| 15 | Abdominal situs inversus (HP:0003363) | 2.62223529 |
| 16 | Abnormality of abdominal situs (HP:0011620) | 2.62223529 |
| 17 | Abnormality of the phalanges of the hallux (HP:0010057) | 2.57426421 |
| 18 | Reticulocytopenia (HP:0001896) | 2.54608488 |
| 19 | Abnormality of the distal phalanx of the thumb (HP:0009617) | 2.51867829 |
| 20 | Vitreoretinal degeneration (HP:0000655) | 2.44534489 |
| 21 | Duplication of thumb phalanx (HP:0009942) | 2.44352932 |
| 22 | Bladder diverticulum (HP:0000015) | 2.44064307 |
| 23 | Abnormality of the 4th metacarpal (HP:0010012) | 2.43714817 |
| 24 | Abnormality of the phalanges of the 2nd finger (HP:0009541) | 2.41536421 |
| 25 | Patent foramen ovale (HP:0001655) | 2.40878862 |
| 26 | Abnormality of dentin (HP:0010299) | 2.39529223 |
| 27 | Abnormality of the calcaneus (HP:0008364) | 2.37348440 |
| 28 | Abnormality of the ischium (HP:0003174) | 2.35901502 |
| 29 | Mildly elevated creatine phosphokinase (HP:0008180) | 2.35362786 |
| 30 | Rectal fistula (HP:0100590) | 2.34973070 |
| 31 | Rectovaginal fistula (HP:0000143) | 2.34973070 |
| 32 | Fused cervical vertebrae (HP:0002949) | 2.33655376 |
| 33 | * Rib fusion (HP:0000902) | 2.33515760 |
| 34 | Thin ribs (HP:0000883) | 2.32780233 |
| 35 | Double outlet right ventricle (HP:0001719) | 2.32707502 |
| 36 | Congenital malformation of the right heart (HP:0011723) | 2.32707502 |
| 37 | Nephroblastoma (Wilms tumor) (HP:0002667) | 2.30056178 |
| 38 | Partial duplication of the phalanx of hand (HP:0009999) | 2.29832269 |
| 39 | Abnormality of the astrocytes (HP:0100707) | 2.29790728 |
| 40 | Astrocytoma (HP:0009592) | 2.29790728 |
| 41 | Abnormality of the fetal cardiovascular system (HP:0010948) | 2.27572460 |
| 42 | Abnormal umbilical cord blood vessels (HP:0011403) | 2.27572460 |
| 43 | Single umbilical artery (HP:0001195) | 2.27572460 |
| 44 | Soft skin (HP:0000977) | 2.25449849 |
| 45 | Abnormality of the parietal bone (HP:0002696) | 2.23415629 |
| 46 | Embryonal renal neoplasm (HP:0011794) | 2.23295048 |
| 47 | Neonatal short-limb short stature (HP:0008921) | 2.20488413 |
| 48 | Cerebral aneurysm (HP:0004944) | 2.19788421 |
| 49 | High anterior hairline (HP:0009890) | 2.19721774 |
| 50 | Midline defect of the nose (HP:0004122) | 2.19550974 |
| 51 | Hyperinsulinemic hypoglycemia (HP:0000825) | 2.18898978 |
| 52 | Shawl scrotum (HP:0000049) | 2.18253445 |
| 53 | Chin dimple (HP:0010751) | 2.17731020 |
| 54 | Ulnar bowing (HP:0003031) | 2.16987976 |
| 55 | Anal stenosis (HP:0002025) | 2.16446149 |
| 56 | Multiple enchondromatosis (HP:0005701) | 2.15911920 |
| 57 | Intestinal fistula (HP:0100819) | 2.15462957 |
| 58 | Neoplasm of striated muscle (HP:0009728) | 2.15414224 |
| 59 | Trismus (HP:0000211) | 2.14966487 |
| 60 | Abnormality of the aortic arch (HP:0012303) | 2.12854553 |
| 61 | Hypoplastic pelvis (HP:0008839) | 2.11139062 |
| 62 | Broad palm (HP:0001169) | 2.11136087 |
| 63 | Cervical subluxation (HP:0003308) | 2.10517856 |
| 64 | Atrophic scars (HP:0001075) | 2.10161956 |
| 65 | * Broad thumb (HP:0011304) | 2.07941292 |
| 66 | Transposition of the great arteries (HP:0001669) | 2.07193655 |
| 67 | Abnormal connection of the cardiac segments (HP:0011545) | 2.07193655 |
| 68 | Abnormal ventriculo-arterial connection (HP:0011563) | 2.07193655 |
| 69 | Genu recurvatum (HP:0002816) | 2.07055951 |
| 70 | Irregular epiphyses (HP:0010582) | 2.06539126 |
| 71 | Mitral valve prolapse (HP:0001634) | 2.05716512 |
| 72 | Aortic aneurysm (HP:0004942) | 2.03974502 |
| 73 | Vaginal fistula (HP:0004320) | 2.01962100 |
| 74 | Neoplasm of the heart (HP:0100544) | 2.00514372 |
| 75 | Peritonitis (HP:0002586) | 1.99555442 |
| 76 | Atresia of the external auditory canal (HP:0000413) | 1.99381206 |
| 77 | Absent frontal sinuses (HP:0002688) | 1.99136838 |
| 78 | Calcaneovalgus deformity (HP:0001848) | 1.97699297 |
| 79 | Pancreatic islet-cell hyperplasia (HP:0004510) | 1.96485057 |
| 80 | Bowel diverticulosis (HP:0005222) | 1.96356039 |
| 81 | Fragile skin (HP:0001030) | 1.95780739 |
| 82 | Abnormality of the pubic bones (HP:0003172) | 1.95744035 |
| 83 | Coronal craniosynostosis (HP:0004440) | 1.95190636 |
| 84 | Supernumerary ribs (HP:0005815) | 1.94349395 |
| 85 | Hypoplastic ischia (HP:0003175) | 1.94001500 |
| 86 | Preauricular skin tag (HP:0000384) | 1.93225697 |
| 87 | * Short 5th finger (HP:0009237) | 1.92044647 |
| 88 | * Wide anterior fontanel (HP:0000260) | 1.91668376 |
| 89 | Abnormality of the 2nd finger (HP:0004100) | 1.90609255 |
| 90 | Increased connective tissue (HP:0009025) | 1.90552956 |
| 91 | * Broad long bones (HP:0005622) | 1.89523547 |
| 92 | Supernumerary spleens (HP:0009799) | 1.88641796 |
| 93 | Skin tags (HP:0010609) | 1.88495811 |
| 94 | * Broad toe (HP:0001837) | 1.88472628 |
| 95 | Glioma (HP:0009733) | 1.88109796 |
| 96 | Broad metatarsal (HP:0001783) | 1.86510421 |
| 97 | Deviation of the hallux (HP:0010051) | 1.85313554 |
| 98 | Bell-shaped thorax (HP:0001591) | 1.84365525 |
| 99 | * Broad phalanges of the hand (HP:0009768) | 1.84349269 |
| 100 | Aortic dissection (HP:0002647) | 1.83883671 |
| 101 | Abnormal lung lobation (HP:0002101) | 1.83075656 |
| 102 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 1.82047527 |
| 103 | Ectopic kidney (HP:0000086) | 1.81194265 |
| 104 | Myelomeningocele (HP:0002475) | 1.79884133 |
| 105 | Turricephaly (HP:0000262) | 1.79552097 |
| 106 | Rhabdomyosarcoma (HP:0002859) | 1.79341634 |
| 107 | Disproportionate tall stature (HP:0001519) | 1.79065525 |
| 108 | Absent radius (HP:0003974) | 1.78323051 |
| 109 | Aplasia/Hypoplasia of the sternum (HP:0006714) | 1.77012116 |
| 110 | Medulloblastoma (HP:0002885) | 1.76964444 |
| 111 | * Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376) | 1.76260277 |
| 112 | * Missing ribs (HP:0000921) | 1.75318417 |
| 113 | Cupped ribs (HP:0000887) | 1.75067326 |
| 114 | Colon cancer (HP:0003003) | 1.75010146 |
| 115 | * Broad phalanx (HP:0006009) | 1.74898594 |
| 116 | Hallux valgus (HP:0001822) | 1.74814381 |
| 117 | Skin pits (HP:0100276) | 1.74484018 |
| 118 | Supernumerary bones of the axial skeleton (HP:0009144) | 1.74207343 |
| 119 | Abnormal pancreas size (HP:0012094) | 1.73545341 |
| 120 | Chromsome breakage (HP:0040012) | 1.73073915 |
| 121 | Periauricular skin pits (HP:0100277) | 1.72900425 |
| 122 | Preauricular pit (HP:0004467) | 1.72900425 |
| 123 | * Aplasia/Hypoplasia of the 5th finger (HP:0006262) | 1.71824585 |
| 124 | Joint laxity (HP:0001388) | 1.71149484 |
| 125 | * Bifid tongue (HP:0010297) | 1.70703799 |
| 126 | Increased nuchal translucency (HP:0010880) | 1.70216025 |
| 127 | * Broad finger (HP:0001500) | 1.70061193 |
| 128 | Short phalanx of the thumb (HP:0009660) | 1.69959501 |
| 129 | Deformed tarsal bones (HP:0008119) | 1.69513950 |
| 130 | Dilatation of the ascending aorta (HP:0005111) | 1.69463953 |
| 131 | Facial cleft (HP:0002006) | 1.69237489 |
| 132 | Mild short stature (HP:0003502) | 1.68667939 |
| 133 | * Blue sclerae (HP:0000592) | 1.68210325 |
| 134 | Morphological abnormality of the middle ear (HP:0008609) | 1.67912173 |
| 135 | Delayed epiphyseal ossification (HP:0002663) | 1.67837676 |
| 136 | Infantile muscular hypotonia (HP:0008947) | 1.67471619 |
| 137 | Abnormality of the umbilical cord (HP:0010881) | 1.66552589 |
| 138 | * Cutaneous syndactyly (HP:0012725) | 1.66420104 |
| 139 | Diastasis recti (HP:0001540) | 1.65885758 |
| 140 | Neoplasm of the oral cavity (HP:0100649) | 1.65010850 |
| 141 | Rectal prolapse (HP:0002035) | 1.65004128 |
| 142 | Spinal rigidity (HP:0003306) | 1.64941078 |
| 143 | * Cutaneous finger syndactyly (HP:0010554) | 1.64634994 |
| 144 | Mixed hearing impairment (HP:0000410) | 1.64556332 |
| 145 | Abnormal vertebral ossification (HP:0100569) | 1.64124310 |
| 146 | Dislocated radial head (HP:0003083) | 1.62939957 |
| 147 | Short hallux (HP:0010109) | 1.62865628 |
| 148 | Metaphyseal cupping (HP:0003021) | 1.62625178 |
| 149 | Biconcave vertebral bodies (HP:0004586) | 1.62599357 |
| 150 | * Vertebral fusion (HP:0002948) | 1.62329241 |
| 151 | Down-sloping shoulders (HP:0200021) | 1.62113997 |
| 152 | Omphalocele (HP:0001539) | 1.61229731 |
| 153 | * Preaxial foot polydactyly (HP:0001841) | 1.61140956 |
| 154 | Aplasia/Hypoplasia of the vertebrae (HP:0008515) | 1.60956741 |
| 155 | Vertebral hypoplasia (HP:0008417) | 1.60956741 |
| 156 | Thin bony cortex (HP:0002753) | 1.59293228 |
| 157 | Abnormal number of incisors (HP:0011064) | 1.59230775 |
| 158 | Absent forearm bone (HP:0003953) | 1.58957516 |
| 159 | Aplasia involving forearm bones (HP:0009822) | 1.58957516 |
| 160 | Ectopia lentis (HP:0001083) | 1.58906380 |
| 161 | Partial duplication of thumb phalanx (HP:0009944) | 1.58428867 |
| 162 | Trigonocephaly (HP:0000243) | 1.57975289 |
| 163 | Abnormality of the middle phalanges of the toes (HP:0010183) | 1.57927184 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | CDK12 | 5.33579939 |
| 2 | ICK | 2.99991190 |
| 3 | ERN1 | 2.96953333 |
| 4 | LATS2 | 2.89061889 |
| 5 | DDR2 | 2.77648594 |
| 6 | PDGFRA | 2.61406560 |
| 7 | LATS1 | 2.42309207 |
| 8 | PLK4 | 2.40306447 |
| 9 | MAP3K10 | 2.25457119 |
| 10 | PASK | 2.23362055 |
| 11 | PBK | 2.15926938 |
| 12 | EPHA2 | 2.15524503 |
| 13 | PDK2 | 2.07570989 |
| 14 | TTK | 1.96370659 |
| 15 | ERBB4 | 1.76677919 |
| 16 | CDK7 | 1.75766206 |
| 17 | GRK5 | 1.66450173 |
| 18 | CDC7 | 1.64617721 |
| 19 | TRIB3 | 1.64027618 |
| 20 | MYLK | 1.57006452 |
| 21 | NEK2 | 1.56104065 |
| 22 | STK38L | 1.51716694 |
| 23 | FGFR2 | 1.50916855 |
| 24 | PAK4 | 1.50795862 |
| 25 | EPHB2 | 1.48844252 |
| 26 | SMG1 | 1.47350137 |
| 27 | MAP3K6 | 1.41517485 |
| 28 | MTOR | 1.38539873 |
| 29 | TYRO3 | 1.36022395 |
| 30 | DMPK | 1.35177737 |
| 31 | AKT3 | 1.32792635 |
| 32 | PTK2 | 1.30837940 |
| 33 | PLK1 | 1.27753017 |
| 34 | PKN2 | 1.26781304 |
| 35 | MAP3K9 | 1.19741000 |
| 36 | TTN | 1.16995066 |
| 37 | MKNK2 | 1.16949493 |
| 38 | PRKD3 | 1.16208108 |
| 39 | CLK1 | 1.15648503 |
| 40 | STK16 | 1.15600618 |
| 41 | CASK | 1.14714936 |
| 42 | PAK2 | 1.13162590 |
| 43 | WNK1 | 1.12616074 |
| 44 | GRK6 | 1.10522183 |
| 45 | FGFR1 | 1.09789565 |
| 46 | NME1 | 1.08272521 |
| 47 | PTK6 | 1.06700852 |
| 48 | HIPK2 | 1.05704357 |
| 49 | BUB1 | 1.04403496 |
| 50 | RPS6KB2 | 1.03792825 |
| 51 | CHEK2 | 1.01928541 |
| 52 | BRSK1 | 1.01917550 |
| 53 | FLT3 | 1.01357207 |
| 54 | BRD4 | 0.98688729 |
| 55 | MAPK15 | 0.98425657 |
| 56 | BMX | 0.97730045 |
| 57 | NEK1 | 0.96531855 |
| 58 | MET | 0.93351493 |
| 59 | STK10 | 0.93148151 |
| 60 | CAMK1G | 0.91749765 |
| 61 | PRKCI | 0.91710951 |
| 62 | TGFBR1 | 0.90705209 |
| 63 | NTRK1 | 0.90184823 |
| 64 | SIK1 | 0.88362844 |
| 65 | CHEK1 | 0.87939577 |
| 66 | WNK3 | 0.86954769 |
| 67 | CDC42BPA | 0.86893488 |
| 68 | STK3 | 0.86809518 |
| 69 | MKNK1 | 0.85416945 |
| 70 | PRKG2 | 0.84478177 |
| 71 | TGFBR2 | 0.84346062 |
| 72 | PNCK | 0.82540010 |
| 73 | WEE1 | 0.80010313 |
| 74 | BRSK2 | 0.79443543 |
| 75 | ALK | 0.79018881 |
| 76 | MATK | 0.77967285 |
| 77 | STK4 | 0.77232568 |
| 78 | AURKB | 0.75067770 |
| 79 | RIPK1 | 0.74917407 |
| 80 | LRRK2 | 0.73781668 |
| 81 | DYRK3 | 0.73648484 |
| 82 | MAP3K8 | 0.73450977 |
| 83 | PRKD2 | 0.72868118 |
| 84 | MAPK7 | 0.72759817 |
| 85 | TNIK | 0.72538890 |
| 86 | DYRK1B | 0.71454740 |
| 87 | ZAK | 0.71414889 |
| 88 | BRAF | 0.71329523 |
| 89 | MAP3K3 | 0.71092689 |
| 90 | GRK1 | 0.70131182 |
| 91 | ADRBK1 | 0.69344899 |
| 92 | SRPK1 | 0.68616427 |
| 93 | AURKA | 0.68209887 |
| 94 | CDK8 | 0.67284803 |
| 95 | AKT2 | 0.66708452 |
| 96 | CDK2 | 0.65900125 |
| 97 | UHMK1 | 0.64836999 |
| 98 | PIM2 | 0.64657915 |
| 99 | MAP3K4 | 0.62434640 |
| 100 | CDK4 | 0.60723976 |
| 101 | TAOK2 | 0.60374705 |
| 102 | PAK1 | 0.60347583 |
| 103 | MAP2K7 | 0.59402179 |
| 104 | MELK | 0.59127086 |
| 105 | RPS6KC1 | 0.58531991 |
| 106 | RPS6KL1 | 0.58531991 |
| 107 | DAPK3 | 0.58453236 |
| 108 | ATM | 0.58357691 |
| 109 | PLK3 | 0.58116898 |
| 110 | MAP3K7 | 0.55907131 |
| 111 | PAK3 | 0.55823440 |
| 112 | TAF1 | 0.55344228 |
| 113 | CAMK1D | 0.55051704 |
| 114 | CDK6 | 0.54524741 |
| 115 | MOS | 0.54120009 |
| 116 | EPHA4 | 0.53402937 |
| 117 | NME2 | 0.53319334 |
| 118 | MARK2 | 0.53283527 |
| 119 | VRK2 | 0.52735528 |
| 120 | RPS6KA2 | 0.52490204 |
| 121 | FER | 0.52138356 |
| 122 | ILK | 0.52009203 |
| 123 | RPS6KA4 | 0.51656704 |
| 124 | CAMK4 | 0.50944697 |
| 125 | PDGFRB | 0.50553022 |
| 126 | ERBB2 | 0.50250464 |
| 127 | INSRR | 0.49275555 |
| 128 | ACVR1B | 0.48958417 |
| 129 | WNK4 | 0.48543737 |
| 130 | ATR | 0.47601381 |
| 131 | NLK | 0.47437158 |
| 132 | SCYL2 | 0.46649637 |
| 133 | CDK1 | 0.46520469 |
| 134 | CSNK1E | 0.46308682 |
| 135 | ADRBK2 | 0.45967984 |
| 136 | TLK1 | 0.45911514 |
| 137 | MAPK1 | 0.45482423 |
| 138 | RPS6KA6 | 0.44948913 |
| 139 | EEF2K | 0.44467832 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Basal cell carcinoma_Homo sapiens_hsa05217 | 3.19147611 |
| 2 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 2.75016944 |
| 3 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.59791807 |
| 4 | RNA transport_Homo sapiens_hsa03013 | 2.52639015 |
| 5 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.50726910 |
| 6 | Hippo signaling pathway_Homo sapiens_hsa04390 | 2.48900311 |
| 7 | Mismatch repair_Homo sapiens_hsa03430 | 2.39425721 |
| 8 | DNA replication_Homo sapiens_hsa03030 | 2.15713108 |
| 9 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 2.14930216 |
| 10 | Cell cycle_Homo sapiens_hsa04110 | 2.14221160 |
| 11 | Spliceosome_Homo sapiens_hsa03040 | 2.11254087 |
| 12 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 2.05043088 |
| 13 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 2.03635456 |
| 14 | Adherens junction_Homo sapiens_hsa04520 | 2.00590666 |
| 15 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.93378685 |
| 16 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.84297634 |
| 17 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.81503684 |
| 18 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 1.79000750 |
| 19 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.77305977 |
| 20 | ECM-receptor interaction_Homo sapiens_hsa04512 | 1.73612286 |
| 21 | Bladder cancer_Homo sapiens_hsa05219 | 1.63894500 |
| 22 | Base excision repair_Homo sapiens_hsa03410 | 1.61969456 |
| 23 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 1.61524866 |
| 24 | Thyroid cancer_Homo sapiens_hsa05216 | 1.60106451 |
| 25 | Wnt signaling pathway_Homo sapiens_hsa04310 | 1.58067856 |
| 26 | mTOR signaling pathway_Homo sapiens_hsa04150 | 1.52888594 |
| 27 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 1.49110905 |
| 28 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.47008503 |
| 29 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 1.46154013 |
| 30 | Ribosome_Homo sapiens_hsa03010 | 1.44022935 |
| 31 | Focal adhesion_Homo sapiens_hsa04510 | 1.38779943 |
| 32 | Tight junction_Homo sapiens_hsa04530 | 1.33940523 |
| 33 | RNA degradation_Homo sapiens_hsa03018 | 1.30530733 |
| 34 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 1.26284519 |
| 35 | Notch signaling pathway_Homo sapiens_hsa04330 | 1.24478685 |
| 36 | Galactose metabolism_Homo sapiens_hsa00052 | 1.22501934 |
| 37 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.20841871 |
| 38 | Homologous recombination_Homo sapiens_hsa03440 | 1.20649000 |
| 39 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.20058558 |
| 40 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 1.19503670 |
| 41 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.16308804 |
| 42 | Pathways in cancer_Homo sapiens_hsa05200 | 1.15604059 |
| 43 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.14810551 |
| 44 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.12325501 |
| 45 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 1.09272368 |
| 46 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.06886134 |
| 47 | HTLV-I infection_Homo sapiens_hsa05166 | 1.02401550 |
| 48 | Small cell lung cancer_Homo sapiens_hsa05222 | 1.00950190 |
| 49 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.98285350 |
| 50 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.96129395 |
| 51 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.94780945 |
| 52 | Axon guidance_Homo sapiens_hsa04360 | 0.93193613 |
| 53 | Melanogenesis_Homo sapiens_hsa04916 | 0.91913239 |
| 54 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.91562431 |
| 55 | Protein export_Homo sapiens_hsa03060 | 0.90877866 |
| 56 | Colorectal cancer_Homo sapiens_hsa05210 | 0.90746905 |
| 57 | Melanoma_Homo sapiens_hsa05218 | 0.89905716 |
| 58 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.89090692 |
| 59 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.87991266 |
| 60 | Prostate cancer_Homo sapiens_hsa05215 | 0.85849881 |
| 61 | Lysine degradation_Homo sapiens_hsa00310 | 0.84322643 |
| 62 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.84087846 |
| 63 | RNA polymerase_Homo sapiens_hsa03020 | 0.82993810 |
| 64 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.82947662 |
| 65 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.77113220 |
| 66 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.76245064 |
| 67 | Endometrial cancer_Homo sapiens_hsa05213 | 0.75744134 |
| 68 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.75660271 |
| 69 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.73561905 |
| 70 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.73107739 |
| 71 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.71240641 |
| 72 | Citrate cycle (TCA cycle)_Homo sapiens_hsa00020 | 0.71097829 |
| 73 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.68665072 |
| 74 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.67592670 |
| 75 | Carbon metabolism_Homo sapiens_hsa01200 | 0.67583433 |
| 76 | Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532 | 0.67289950 |
| 77 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.65937524 |
| 78 | Huntingtons disease_Homo sapiens_hsa05016 | 0.65240950 |
| 79 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.63993240 |
| 80 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.62183658 |
| 81 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.62150761 |
| 82 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.61500475 |
| 83 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.61456243 |
| 84 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.59617216 |
| 85 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.59243165 |
| 86 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.56886095 |
| 87 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.56073881 |
| 88 | Sulfur relay system_Homo sapiens_hsa04122 | 0.54065424 |
| 89 | Basal transcription factors_Homo sapiens_hsa03022 | 0.53573909 |
| 90 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.52617494 |
| 91 | Insulin resistance_Homo sapiens_hsa04931 | 0.52394818 |
| 92 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.51126771 |
| 93 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.50475800 |
| 94 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.50268371 |
| 95 | Alcoholism_Homo sapiens_hsa05034 | 0.50254422 |
| 96 | Purine metabolism_Homo sapiens_hsa00230 | 0.49952273 |
| 97 | Amoebiasis_Homo sapiens_hsa05146 | 0.49155611 |
| 98 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.48435687 |
| 99 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.47982514 |
| 100 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.47211477 |
| 101 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.43636451 |
| 102 | Viral myocarditis_Homo sapiens_hsa05416 | 0.42233874 |
| 103 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.41211350 |
| 104 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.39990518 |
| 105 | Glioma_Homo sapiens_hsa05214 | 0.39750788 |
| 106 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.38566932 |
| 107 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.38320633 |
| 108 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.38312789 |
| 109 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.38135899 |
| 110 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.37660780 |
| 111 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.37504029 |
| 112 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.36162961 |
| 113 | Parkinsons disease_Homo sapiens_hsa05012 | 0.35189535 |
| 114 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.34656654 |
| 115 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.34520837 |
| 116 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.33808387 |
| 117 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.33664895 |
| 118 | Insulin secretion_Homo sapiens_hsa04911 | 0.32840788 |
| 119 | Gap junction_Homo sapiens_hsa04540 | 0.31907953 |
| 120 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.31211060 |
| 121 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.30223461 |
| 122 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.30132381 |
| 123 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.29884395 |

