

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | motile cilium assembly (GO:0044458) | 9.02879333 |
| 2 | axoneme assembly (GO:0035082) | 8.39339955 |
| 3 | fusion of sperm to egg plasma membrane (GO:0007342) | 7.47773516 |
| 4 | piRNA metabolic process (GO:0034587) | 7.24458410 |
| 5 | multicellular organism reproduction (GO:0032504) | 6.98380456 |
| 6 | sperm motility (GO:0030317) | 6.98331405 |
| 7 | ventricular system development (GO:0021591) | 6.96148687 |
| 8 | GTP biosynthetic process (GO:0006183) | 6.79296296 |
| 9 | sperm-egg recognition (GO:0035036) | 6.50712255 |
| 10 | regulation of cilium movement (GO:0003352) | 6.30947020 |
| 11 | acrosome reaction (GO:0007340) | 6.29068820 |
| 12 | acrosome assembly (GO:0001675) | 6.18810509 |
| 13 | intraciliary transport (GO:0042073) | 6.06272341 |
| 14 | binding of sperm to zona pellucida (GO:0007339) | 5.97978238 |
| 15 | male meiosis (GO:0007140) | 5.92323569 |
| 16 | UTP biosynthetic process (GO:0006228) | 5.82225855 |
| 17 | cell-cell recognition (GO:0009988) | 5.72656172 |
| 18 | spermatid development (GO:0007286) | 5.64769694 |
| 19 | plasma membrane fusion (GO:0045026) | 5.54888111 |
| 20 | single fertilization (GO:0007338) | 5.42240585 |
| 21 | cilium organization (GO:0044782) | 5.30348009 |
| 22 | left/right axis specification (GO:0070986) | 5.28019246 |
| 23 | reproduction (GO:0000003) | 5.23558125 |
| 24 | DNA methylation involved in gamete generation (GO:0043046) | 5.15929919 |
| 25 | male meiosis I (GO:0007141) | 5.15043335 |
| 26 | regulation of memory T cell differentiation (GO:0043380) | 5.13422721 |
| 27 | * nucleoside diphosphate phosphorylation (GO:0006165) | 5.13109936 |
| 28 | UTP metabolic process (GO:0046051) | 5.08149234 |
| 29 | cilium assembly (GO:0042384) | 5.04558283 |
| 30 | synaptonemal complex organization (GO:0070193) | 5.01288195 |
| 31 | centriole assembly (GO:0098534) | 5.00765299 |
| 32 | cell wall macromolecule catabolic process (GO:0016998) | 4.97605052 |
| 33 | cell wall macromolecule metabolic process (GO:0044036) | 4.97605052 |
| 34 | centriole replication (GO:0007099) | 4.76276272 |
| 35 | protein localization to cilium (GO:0061512) | 4.71683929 |
| 36 | guanosine-containing compound biosynthetic process (GO:1901070) | 4.68339843 |
| 37 | meiotic cell cycle (GO:0051321) | 4.67793885 |
| 38 | synaptonemal complex assembly (GO:0007130) | 4.44154176 |
| 39 | CTP metabolic process (GO:0046036) | 4.43867879 |
| 40 | CTP biosynthetic process (GO:0006241) | 4.43867879 |
| 41 | fertilization (GO:0009566) | 4.41466424 |
| 42 | cilium morphogenesis (GO:0060271) | 4.34019205 |
| 43 | cellular component assembly involved in morphogenesis (GO:0010927) | 4.29502968 |
| 44 | sperm capacitation (GO:0048240) | 4.15621922 |
| 45 | behavioral response to nicotine (GO:0035095) | 4.14202894 |
| 46 | microtubule depolymerization (GO:0007019) | 4.13789724 |
| 47 | meiosis I (GO:0007127) | 4.11122142 |
| 48 | pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148) | 3.99347472 |
| 49 | microtubule-based movement (GO:0007018) | 3.89902223 |
| 50 | pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209) | 3.88378117 |
| 51 | spermatogenesis (GO:0007283) | 3.82458301 |
| 52 | fucose catabolic process (GO:0019317) | 3.82152581 |
| 53 | L-fucose metabolic process (GO:0042354) | 3.82152581 |
| 54 | L-fucose catabolic process (GO:0042355) | 3.82152581 |
| 55 | male gamete generation (GO:0048232) | 3.81369238 |
| 56 | chromosome organization involved in meiosis (GO:0070192) | 3.71059631 |
| 57 | microtubule bundle formation (GO:0001578) | 3.66038869 |
| 58 | rRNA catabolic process (GO:0016075) | 3.62285529 |
| 59 | negative regulation of inclusion body assembly (GO:0090084) | 3.61688670 |
| 60 | microtubule severing (GO:0051013) | 3.60525460 |
| 61 | meiotic nuclear division (GO:0007126) | 3.58142182 |
| 62 | gamete generation (GO:0007276) | 3.56072492 |
| 63 | pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208) | 3.44936135 |
| 64 | pyrimidine nucleoside triphosphate metabolic process (GO:0009147) | 3.44780603 |
| 65 | indolalkylamine metabolic process (GO:0006586) | 3.42938356 |
| 66 | DNA deamination (GO:0045006) | 3.40151908 |
| 67 | left/right pattern formation (GO:0060972) | 3.36347705 |
| 68 | water-soluble vitamin biosynthetic process (GO:0042364) | 3.36130050 |
| 69 | negative regulation of mast cell activation (GO:0033004) | 3.35494069 |
| 70 | regulation of microtubule-based movement (GO:0060632) | 3.35339994 |
| 71 | spermatid nucleus differentiation (GO:0007289) | 3.31795528 |
| 72 | protein polyglutamylation (GO:0018095) | 3.29592140 |
| 73 | cellular ketone body metabolic process (GO:0046950) | 3.26476876 |
| 74 | cell projection assembly (GO:0030031) | 3.25721534 |
| 75 | positive regulation of defense response to virus by host (GO:0002230) | 3.23055715 |
| 76 | germ cell development (GO:0007281) | 3.22407395 |
| 77 | regulation of activation of Janus kinase activity (GO:0010533) | 3.18111538 |
| 78 | positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725) | 3.16330751 |
| 79 | detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) | 3.14188198 |
| 80 | neural tube formation (GO:0001841) | 3.13890737 |
| 81 | cell recognition (GO:0008037) | 3.11515248 |
| 82 | photoreceptor cell maintenance (GO:0045494) | 3.10203633 |
| 83 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.06535755 |
| 84 | indole-containing compound catabolic process (GO:0042436) | 3.05559436 |
| 85 | indolalkylamine catabolic process (GO:0046218) | 3.05559436 |
| 86 | tryptophan catabolic process (GO:0006569) | 3.05559436 |
| 87 | retinal cone cell development (GO:0046549) | 2.98512425 |
| 88 | regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645) | 2.96252177 |
| 89 | response to pheromone (GO:0019236) | 2.96025726 |
| 90 | * nucleotide phosphorylation (GO:0046939) | 2.92740609 |
| 91 | positive regulation of cell fate commitment (GO:0010455) | 2.92283138 |
| 92 | regulation of inclusion body assembly (GO:0090083) | 2.90286666 |
| 93 | ketone body metabolic process (GO:1902224) | 2.90250693 |
| 94 | calcium ion-dependent exocytosis (GO:0017156) | 2.89426679 |
| 95 | negative regulation of cytosolic calcium ion concentration (GO:0051481) | 2.87925385 |
| 96 | determination of left/right symmetry (GO:0007368) | 2.87445496 |
| 97 | otic vesicle formation (GO:0030916) | 2.87200880 |
| 98 | synapsis (GO:0007129) | 2.86752341 |
| 99 | nonmotile primary cilium assembly (GO:0035058) | 2.82192915 |
| 100 | kynurenine metabolic process (GO:0070189) | 2.80181483 |
| 101 | detection of light stimulus involved in sensory perception (GO:0050962) | 2.79627262 |
| 102 | detection of light stimulus involved in visual perception (GO:0050908) | 2.79627262 |
| 103 | positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523) | 2.78248349 |
| 104 | establishment of protein localization to Golgi (GO:0072600) | 2.78141882 |
| 105 | phosphatidylethanolamine metabolic process (GO:0046337) | 2.77931284 |
| 106 | regulation of meiosis I (GO:0060631) | 2.77836863 |
| 107 | multicellular organismal reproductive process (GO:0048609) | 2.75485947 |
| 108 | * nucleoside diphosphate metabolic process (GO:0009132) | 2.73058532 |
| 109 | tryptophan metabolic process (GO:0006568) | 2.71662389 |
| 110 | positive regulation of T-helper 1 type immune response (GO:0002827) | 2.71148538 |
| 111 | amine catabolic process (GO:0009310) | 2.70663786 |
| 112 | cellular biogenic amine catabolic process (GO:0042402) | 2.70663786 |
| 113 | organelle assembly (GO:0070925) | 2.69776537 |
| 114 | neuronal action potential (GO:0019228) | 2.69503011 |
| 115 | glycerophospholipid catabolic process (GO:0046475) | 2.67953063 |
| 116 | determination of bilateral symmetry (GO:0009855) | 2.67507012 |
| 117 | positive regulation of meiosis (GO:0045836) | 2.66888016 |
| 118 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 2.66826714 |
| 119 | specification of symmetry (GO:0009799) | 2.62414868 |
| 120 | nucleotide transmembrane transport (GO:1901679) | 2.61595095 |
| 121 | adaptation of signaling pathway (GO:0023058) | 2.61100334 |
| 122 | microtubule polymerization or depolymerization (GO:0031109) | 2.59789240 |
| 123 | regulation of action potential (GO:0098900) | 2.58149290 |
| 124 | intra-S DNA damage checkpoint (GO:0031573) | 2.57621542 |
| 125 | gamma-aminobutyric acid transport (GO:0015812) | 2.57577925 |
| 126 | platelet dense granule organization (GO:0060155) | 2.56236900 |
| 127 | positive regulation of meiotic cell cycle (GO:0051446) | 2.55840188 |
| 128 | indole-containing compound metabolic process (GO:0042430) | 2.55236554 |
| 129 | behavioral response to ethanol (GO:0048149) | 2.53839031 |
| 130 | G-protein coupled glutamate receptor signaling pathway (GO:0007216) | 2.53501015 |
| 131 | spinal cord motor neuron differentiation (GO:0021522) | 2.51200933 |
| 132 | regulation of pigment cell differentiation (GO:0050932) | 2.50031804 |
| 133 | smoothened signaling pathway (GO:0007224) | 2.49621025 |
| 134 | regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522) | 2.49182407 |
| 135 | cellular response to gamma radiation (GO:0071480) | 2.48986409 |
| 136 | transmission of nerve impulse (GO:0019226) | 2.48725822 |
| 137 | pyrimidine ribonucleoside biosynthetic process (GO:0046132) | 2.46528201 |
| 138 | meiotic cell cycle process (GO:1903046) | 2.45198068 |
| 139 | reciprocal meiotic recombination (GO:0007131) | 2.43771650 |
| 140 | reciprocal DNA recombination (GO:0035825) | 2.43771650 |
| 141 | protein localization to Golgi apparatus (GO:0034067) | 2.42488434 |
| 142 | primary amino compound metabolic process (GO:1901160) | 2.41390915 |
| 143 | pyrimidine nucleobase catabolic process (GO:0006208) | 2.40790449 |
| 144 | auditory receptor cell stereocilium organization (GO:0060088) | 2.39874369 |
| 145 | kidney morphogenesis (GO:0060993) | 2.39472601 |
| 146 | axon ensheathment in central nervous system (GO:0032291) | 2.39394277 |
| 147 | central nervous system myelination (GO:0022010) | 2.39394277 |
| 148 | nucleobase catabolic process (GO:0046113) | 2.38308564 |
| 149 | protein targeting to Golgi (GO:0000042) | 2.38097726 |
| 150 | serotonin metabolic process (GO:0042428) | 2.36822751 |
| 151 | organic cation transport (GO:0015695) | 2.36723858 |
| 152 | respiratory chain complex IV assembly (GO:0008535) | 2.36188921 |
| 153 | cornea development in camera-type eye (GO:0061303) | 2.35246716 |
| 154 | pyrimidine nucleotide biosynthetic process (GO:0006221) | 2.34931582 |
| 155 | protein complex biogenesis (GO:0070271) | 2.34331081 |
| 156 | regulation of collateral sprouting (GO:0048670) | 2.33858500 |
| 157 | regulation of centriole replication (GO:0046599) | 2.33457749 |
| 158 | pyrimidine ribonucleotide biosynthetic process (GO:0009220) | 2.32749381 |
| 159 | protein import into peroxisome matrix (GO:0016558) | 2.32124415 |
| 160 | positive regulation of oligodendrocyte differentiation (GO:0048714) | 2.31501380 |
| 161 | reflex (GO:0060004) | 2.30649502 |
| 162 | regulation of rhodopsin mediated signaling pathway (GO:0022400) | 2.29687564 |
| 163 | microtubule-based process (GO:0007017) | 2.29506513 |
| 164 | brain morphogenesis (GO:0048854) | 2.29487172 |
| 165 | cilium or flagellum-dependent cell motility (GO:0001539) | 15.3700122 |
| 166 | axonemal dynein complex assembly (GO:0070286) | 13.3103261 |
| 167 | cilium movement (GO:0003341) | 12.7193786 |
| 168 | epithelial cilium movement (GO:0003351) | 11.3536441 |
| 169 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 10.2791820 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 4.89316700 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.87621715 |
| 3 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 3.57694494 |
| 4 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.29763383 |
| 5 | ZNF274_21170338_ChIP-Seq_K562_Hela | 3.10886264 |
| 6 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.80782883 |
| 7 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.78088869 |
| 8 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.63992183 |
| 9 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 2.36097694 |
| 10 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 2.26240967 |
| 11 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 2.20982535 |
| 12 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 2.17886339 |
| 13 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 2.15989960 |
| 14 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.15943198 |
| 15 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.12343766 |
| 16 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.07334226 |
| 17 | RNF2_27304074_Chip-Seq_NSC_Mouse | 2.06273463 |
| 18 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.99358218 |
| 19 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.99289900 |
| 20 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.93194155 |
| 21 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.91565918 |
| 22 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.88385012 |
| 23 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.84263983 |
| 24 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.82676153 |
| 25 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.80634902 |
| 26 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.78719002 |
| 27 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.77875703 |
| 28 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.75328351 |
| 29 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.74802096 |
| 30 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.74110387 |
| 31 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.73693836 |
| 32 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.73556578 |
| 33 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.73534108 |
| 34 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.69135270 |
| 35 | VDR_22108803_ChIP-Seq_LS180_Human | 1.67892846 |
| 36 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.67473195 |
| 37 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.67140063 |
| 38 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.66480123 |
| 39 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.64447768 |
| 40 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.64248284 |
| 41 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.62719236 |
| 42 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.62694588 |
| 43 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.62159544 |
| 44 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.62159544 |
| 45 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.60747011 |
| 46 | RUNX1_27457419_Chip-Seq_LIVER_Mouse | 1.58926112 |
| 47 | ZFX_18555785_Chip-Seq_ESCs_Mouse | 1.58063871 |
| 48 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.57536198 |
| 49 | FUS_26573619_Chip-Seq_HEK293_Human | 1.56040273 |
| 50 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.55710810 |
| 51 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 1.55287462 |
| 52 | AR_25329375_ChIP-Seq_VCAP_Human | 1.51781692 |
| 53 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.50755364 |
| 54 | P300_19829295_ChIP-Seq_ESCs_Human | 1.50675823 |
| 55 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.49210073 |
| 56 | NMYC_18555785_Chip-Seq_ESCs_Mouse | 1.48764229 |
| 57 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.48413105 |
| 58 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.46967053 |
| 59 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.46177961 |
| 60 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 1.45450776 |
| 61 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.44718020 |
| 62 | PU1_27457419_Chip-Seq_LIVER_Mouse | 1.43938692 |
| 63 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.43426484 |
| 64 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.42106965 |
| 65 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.41403624 |
| 66 | CTCF_18555785_Chip-Seq_ESCs_Mouse | 1.36863091 |
| 67 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.36281221 |
| 68 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.36253646 |
| 69 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.36253646 |
| 70 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.35139024 |
| 71 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.34875478 |
| 72 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.34361770 |
| 73 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.34361770 |
| 74 | SMAD1_18555785_Chip-Seq_ESCs_Mouse | 1.33775717 |
| 75 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.33094715 |
| 76 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.32016424 |
| 77 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.31109804 |
| 78 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.30738366 |
| 79 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.30261197 |
| 80 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.30009334 |
| 81 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.28384218 |
| 82 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.27702541 |
| 83 | KDM2B_26808549_Chip-Seq_REH_Human | 1.25830831 |
| 84 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.25810389 |
| 85 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.25409174 |
| 86 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.25117879 |
| 87 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.25076168 |
| 88 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.24877913 |
| 89 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.24584161 |
| 90 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.24509534 |
| 91 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.22393211 |
| 92 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.21577921 |
| 93 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.20040105 |
| 94 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.19965139 |
| 95 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.19585484 |
| 96 | SOX9_26525672_Chip-Seq_Limbbuds_Mouse | 1.19539779 |
| 97 | NCOR_22424771_ChIP-Seq_293T_Human | 1.17270647 |
| 98 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.15829907 |
| 99 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.15080445 |
| 100 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.14002751 |
| 101 | TCF4_23295773_ChIP-Seq_U87_Human | 1.13261130 |
| 102 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.12761040 |
| 103 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 1.12514395 |
| 104 | LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.11741100 |
| 105 | SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse | 1.11017460 |
| 106 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.10588882 |
| 107 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.09136291 |
| 108 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.08865009 |
| 109 | EWS_26573619_Chip-Seq_HEK293_Human | 1.07765808 |
| 110 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.06765557 |
| 111 | CDX2_22108803_ChIP-Seq_LS180_Human | 1.06538549 |
| 112 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.05428839 |
| 113 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.05328595 |
| 114 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.05303616 |
| 115 | AR_20517297_ChIP-Seq_VCAP_Human | 1.05020881 |
| 116 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.04835605 |
| 117 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 1.04143137 |
| 118 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.02820713 |
| 119 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.02656424 |
| 120 | STAT3_23295773_ChIP-Seq_U87_Human | 1.02610547 |
| 121 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.02008280 |
| 122 | CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human | 1.01741107 |
| 123 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.01577317 |
| 124 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.01577317 |
| 125 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.01245317 |
| 126 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.00211950 |
| 127 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.00074723 |
| 128 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 0.97557386 |
| 129 | LMO2_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 0.97335105 |
| 130 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 0.97152007 |
| 131 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 0.96494242 |
| 132 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 0.96419954 |
| 133 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 0.96027271 |
| 134 | TBL1_22424771_ChIP-Seq_293T_Human | 0.95786018 |
| 135 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 0.95569245 |
| 136 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 0.95501522 |
| 137 | PHF8_20622853_ChIP-Seq_HELA_Human | 0.95386117 |
| 138 | GF1B_26923725_Chip-Seq_HPCs_Mouse | 0.95140413 |
| 139 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 0.95138367 |
| 140 | LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.95073823 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 7.50034976 |
| 2 | MP0003136_yellow_coat_color | 5.37735533 |
| 3 | MP0003195_calcinosis | 3.83295060 |
| 4 | MP0002653_abnormal_ependyma_morphology | 3.51272319 |
| 5 | MP0008877_abnormal_DNA_methylation | 3.50952957 |
| 6 | MP0003698_abnormal_male_reproductive | 3.49984929 |
| 7 | MP0001929_abnormal_gametogenesis | 3.20766307 |
| 8 | MP0005623_abnormal_meninges_morphology | 3.01338301 |
| 9 | MP0000569_abnormal_digit_pigmentation | 2.99401934 |
| 10 | MP0002837_dystrophic_cardiac_calcinosis | 2.63288801 |
| 11 | MP0002210_abnormal_sex_determination | 2.53516001 |
| 12 | MP0008057_abnormal_DNA_replication | 2.52129781 |
| 13 | MP0006292_abnormal_olfactory_placode | 2.48801882 |
| 14 | MP0003880_abnormal_central_pattern | 2.39022013 |
| 15 | MP0004381_abnormal_hair_follicle | 2.34968474 |
| 16 | MP0004885_abnormal_endolymph | 2.34563746 |
| 17 | MP0002102_abnormal_ear_morphology | 2.26550509 |
| 18 | MP0002160_abnormal_reproductive_system | 2.21741742 |
| 19 | MP0005646_abnormal_pituitary_gland | 2.15957972 |
| 20 | MP0000566_synostosis | 2.07831678 |
| 21 | MP0004043_abnormal_pH_regulation | 2.04538146 |
| 22 | MP0001188_hyperpigmentation | 1.97852110 |
| 23 | MP0001145_abnormal_male_reproductive | 1.91370412 |
| 24 | MP0008875_abnormal_xenobiotic_pharmacok | 1.83603898 |
| 25 | MP0009046_muscle_twitch | 1.82436085 |
| 26 | MP0002161_abnormal_fertility/fecundity | 1.80165522 |
| 27 | MP0008058_abnormal_DNA_repair | 1.78312292 |
| 28 | MP0000653_abnormal_sex_gland | 1.77809062 |
| 29 | MP0001984_abnormal_olfaction | 1.71327871 |
| 30 | MP0008872_abnormal_physiological_respon | 1.62240078 |
| 31 | MP0001501_abnormal_sleep_pattern | 1.61216051 |
| 32 | MP0001986_abnormal_taste_sensitivity | 1.61016273 |
| 33 | MP0002132_abnormal_respiratory_system | 1.58760020 |
| 34 | MP0003646_muscle_fatigue | 1.55658297 |
| 35 | MP0002277_abnormal_respiratory_mucosa | 1.43621490 |
| 36 | MP0001529_abnormal_vocalization | 1.42851915 |
| 37 | MP0005389_reproductive_system_phenotype | 1.42791410 |
| 38 | MP0002938_white_spotting | 1.40547796 |
| 39 | MP0009780_abnormal_chondrocyte_physiolo | 1.36413076 |
| 40 | MP0005084_abnormal_gallbladder_morpholo | 1.34266643 |
| 41 | MP0005423_abnormal_somatic_nervous | 1.32424476 |
| 42 | MP0002138_abnormal_hepatobiliary_system | 1.28902289 |
| 43 | MP0005409_darkened_coat_color | 1.28561522 |
| 44 | MP0004133_heterotaxia | 1.27533252 |
| 45 | MP0002876_abnormal_thyroid_physiology | 1.26523957 |
| 46 | MP0005171_absent_coat_pigmentation | 1.26397345 |
| 47 | MP0000778_abnormal_nervous_system | 1.21200466 |
| 48 | MP0002282_abnormal_trachea_morphology | 1.18571651 |
| 49 | MP0003011_delayed_dark_adaptation | 1.18323908 |
| 50 | MP0004147_increased_porphyrin_level | 1.17433747 |
| 51 | MP0002064_seizures | 1.16602681 |
| 52 | MP0003938_abnormal_ear_development | 1.15030748 |
| 53 | MP0001970_abnormal_pain_threshold | 1.14787657 |
| 54 | MP0010386_abnormal_urinary_bladder | 1.13829324 |
| 55 | MP0005551_abnormal_eye_electrophysiolog | 1.13235381 |
| 56 | MP0001905_abnormal_dopamine_level | 1.11783730 |
| 57 | MP0005075_abnormal_melanosome_morpholog | 1.11438335 |
| 58 | MP0002928_abnormal_bile_duct | 1.11357720 |
| 59 | MP0003252_abnormal_bile_duct | 1.10006850 |
| 60 | MP0010094_abnormal_chromosome_stability | 1.08684823 |
| 61 | MP0002733_abnormal_thermal_nociception | 1.07676695 |
| 62 | MP0000427_abnormal_hair_cycle | 1.06699311 |
| 63 | MP0000049_abnormal_middle_ear | 1.05468833 |
| 64 | MP0002067_abnormal_sensory_capabilities | 1.05044790 |
| 65 | MP0004742_abnormal_vestibular_system | 1.03003688 |
| 66 | MP0001765_abnormal_ion_homeostasis | 1.02956729 |
| 67 | MP0009250_abnormal_appendicular_skeleto | 1.01770628 |
| 68 | MP0002254_reproductive_system_inflammat | 1.01508660 |
| 69 | MP0000631_abnormal_neuroendocrine_gland | 1.01386351 |
| 70 | MP0001486_abnormal_startle_reflex | 1.01337376 |
| 71 | MP0000026_abnormal_inner_ear | 1.00694892 |
| 72 | MP0002229_neurodegeneration | 1.00388817 |
| 73 | MP0004924_abnormal_behavior | 1.00246000 |
| 74 | MP0005386_behavior/neurological_phenoty | 1.00246000 |
| 75 | MP0005253_abnormal_eye_physiology | 1.00154329 |
| 76 | MP0000372_irregular_coat_pigmentation | 0.99059745 |
| 77 | MP0003937_abnormal_limbs/digits/tail_de | 0.97898831 |
| 78 | MP0004142_abnormal_muscle_tone | 0.97571859 |
| 79 | MP0003635_abnormal_synaptic_transmissio | 0.97112731 |
| 80 | MP0003283_abnormal_digestive_organ | 0.96690265 |
| 81 | MP0004215_abnormal_myocardial_fiber | 0.95548158 |
| 82 | MP0000015_abnormal_ear_pigmentation | 0.95150086 |
| 83 | MP0009697_abnormal_copulation | 0.94531055 |
| 84 | MP0008004_abnormal_stomach_pH | 0.94448780 |
| 85 | MP0002909_abnormal_adrenal_gland | 0.94390413 |
| 86 | MP0006276_abnormal_autonomic_nervous | 0.94371831 |
| 87 | MP0002693_abnormal_pancreas_physiology | 0.93819245 |
| 88 | MP0001764_abnormal_homeostasis | 0.93151320 |
| 89 | MP0002249_abnormal_larynx_morphology | 0.92440273 |
| 90 | MP0003786_premature_aging | 0.92289238 |
| 91 | MP0002063_abnormal_learning/memory/cond | 0.91647910 |
| 92 | MP0003718_maternal_effect | 0.89470491 |
| 93 | MP0002734_abnormal_mechanical_nocicepti | 0.88942352 |
| 94 | MP0008995_early_reproductive_senescence | 0.87815181 |
| 95 | MP0005377_hearing/vestibular/ear_phenot | 0.87332967 |
| 96 | MP0003878_abnormal_ear_physiology | 0.87332967 |
| 97 | MP0002557_abnormal_social/conspecific_i | 0.86145455 |
| 98 | MP0002163_abnormal_gland_morphology | 0.84945024 |
| 99 | MP0001502_abnormal_circadian_rhythm | 0.84938650 |
| 100 | MP0002095_abnormal_skin_pigmentation | 0.84565213 |
| 101 | MP0004134_abnormal_chest_morphology | 0.83011216 |
| 102 | MP0005195_abnormal_posterior_eye | 0.82888530 |
| 103 | MP0008007_abnormal_cellular_replicative | 0.82602787 |
| 104 | MP0000230_abnormal_systemic_arterial | 0.82033187 |
| 105 | MP0002272_abnormal_nervous_system | 0.81865620 |
| 106 | MP0002638_abnormal_pupillary_reflex | 0.81846558 |
| 107 | MP0002572_abnormal_emotion/affect_behav | 0.81674770 |
| 108 | MP0002736_abnormal_nociception_after | 0.81667745 |
| 109 | MP0001177_atelectasis | 0.81398109 |
| 110 | MP0003950_abnormal_plasma_membrane | 0.81165569 |
| 111 | MP0003787_abnormal_imprinting | 0.81102588 |
| 112 | MP0004145_abnormal_muscle_electrophysio | 0.81009119 |
| 113 | MP0006072_abnormal_retinal_apoptosis | 0.80940874 |
| 114 | MP0005645_abnormal_hypothalamus_physiol | 0.80173388 |
| 115 | MP0004782_abnormal_surfactant_physiolog | 0.80108838 |
| 116 | MP0000383_abnormal_hair_follicle | 0.79116009 |
| 117 | MP0005647_abnormal_sex_gland | 0.78585919 |
| 118 | MP0001963_abnormal_hearing_physiology | 0.78533073 |
| 119 | MP0005379_endocrine/exocrine_gland_phen | 0.78010022 |
| 120 | MP0008789_abnormal_olfactory_epithelium | 0.76738722 |
| 121 | MP0005167_abnormal_blood-brain_barrier | 0.75693843 |
| 122 | MP0001485_abnormal_pinna_reflex | 0.73222248 |
| 123 | MP0009745_abnormal_behavioral_response | 0.72780063 |
| 124 | MP0002234_abnormal_pharynx_morphology | 0.72441476 |
| 125 | MP0001440_abnormal_grooming_behavior | 0.72032584 |
| 126 | MP0003879_abnormal_hair_cell | 0.69395971 |
| 127 | MP0005391_vision/eye_phenotype | 0.69265665 |
| 128 | MP0002752_abnormal_somatic_nervous | 0.67807511 |
| 129 | MP0001968_abnormal_touch/_nociception | 0.67782005 |
| 130 | MP0005174_abnormal_tail_pigmentation | 0.66977874 |
| 131 | MP0002735_abnormal_chemical_nociception | 0.66064965 |
| 132 | MP0001919_abnormal_reproductive_system | 0.64377247 |
| 133 | MP0005499_abnormal_olfactory_system | 0.63737268 |
| 134 | MP0005394_taste/olfaction_phenotype | 0.63737268 |
| 135 | MP0005388_respiratory_system_phenotype | 0.63272463 |
| 136 | MP0002133_abnormal_respiratory_system | 0.63272463 |
| 137 | MP0008932_abnormal_embryonic_tissue | 0.62605144 |
| 138 | MP0001119_abnormal_female_reproductive | 0.61492294 |
| 139 | MP0009379_abnormal_foot_pigmentation | 0.61070174 |
| 140 | MP0002116_abnormal_craniofacial_bone | 0.60751585 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 9.24534690 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 9.24534690 |
| 3 | Abnormal respiratory motile cilium morphology (HP:0005938) | 8.87724993 |
| 4 | Abnormal respiratory epithelium morphology (HP:0012253) | 8.87724993 |
| 5 | Rhinitis (HP:0012384) | 8.42728432 |
| 6 | Chronic bronchitis (HP:0004469) | 5.42977443 |
| 7 | Bronchiectasis (HP:0002110) | 5.07376572 |
| 8 | Nasal polyposis (HP:0100582) | 4.23055300 |
| 9 | Nephronophthisis (HP:0000090) | 4.12991592 |
| 10 | Infertility (HP:0000789) | 3.86108015 |
| 11 | Pancreatic fibrosis (HP:0100732) | 3.71065361 |
| 12 | True hermaphroditism (HP:0010459) | 3.51690920 |
| 13 | Recurrent sinusitis (HP:0011108) | 3.42654770 |
| 14 | Medial flaring of the eyebrow (HP:0010747) | 3.36195405 |
| 15 | Abnormality of the nasal mucosa (HP:0000433) | 3.29091461 |
| 16 | Abnormality of the renal medulla (HP:0100957) | 3.24555895 |
| 17 | Bronchitis (HP:0012387) | 3.11205939 |
| 18 | Molar tooth sign on MRI (HP:0002419) | 3.03245368 |
| 19 | Abnormality of midbrain morphology (HP:0002418) | 3.03245368 |
| 20 | Chronic sinusitis (HP:0011109) | 3.02704597 |
| 21 | Tubulointerstitial nephritis (HP:0001970) | 2.85103890 |
| 22 | Type II lissencephaly (HP:0007260) | 2.75936650 |
| 23 | Supernumerary spleens (HP:0009799) | 2.74877798 |
| 24 | Congenital stationary night blindness (HP:0007642) | 2.74589454 |
| 25 | Postaxial foot polydactyly (HP:0001830) | 2.72030665 |
| 26 | Congenital primary aphakia (HP:0007707) | 2.71376980 |
| 27 | Median cleft lip (HP:0000161) | 2.70791312 |
| 28 | Gait imbalance (HP:0002141) | 2.69352738 |
| 29 | Pancreatic cysts (HP:0001737) | 2.68783637 |
| 30 | Nephrogenic diabetes insipidus (HP:0009806) | 2.53270997 |
| 31 | Congenital hepatic fibrosis (HP:0002612) | 2.52329380 |
| 32 | Hyperventilation (HP:0002883) | 2.51592280 |
| 33 | Attenuation of retinal blood vessels (HP:0007843) | 2.46596981 |
| 34 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 2.42382604 |
| 35 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.40349802 |
| 36 | Progressive cerebellar ataxia (HP:0002073) | 2.39400838 |
| 37 | Renal cortical cysts (HP:0000803) | 2.38472813 |
| 38 | Recurrent otitis media (HP:0000403) | 2.38092842 |
| 39 | Polyuria (HP:0000103) | 2.37903680 |
| 40 | Fibular hypoplasia (HP:0003038) | 2.34742376 |
| 41 | Abolished electroretinogram (ERG) (HP:0000550) | 2.34567980 |
| 42 | Furrowed tongue (HP:0000221) | 2.33545904 |
| 43 | Retrobulbar optic neuritis (HP:0100654) | 2.30399199 |
| 44 | Optic neuritis (HP:0100653) | 2.30399199 |
| 45 | Gaze-evoked nystagmus (HP:0000640) | 2.30112974 |
| 46 | Occipital encephalocele (HP:0002085) | 2.25659640 |
| 47 | Preaxial hand polydactyly (HP:0001177) | 2.17868352 |
| 48 | Stomach cancer (HP:0012126) | 2.17077730 |
| 49 | Abnormality of permanent molar morphology (HP:0011071) | 2.14599948 |
| 50 | Abnormality of the dental root (HP:0006486) | 2.14599948 |
| 51 | Taurodontia (HP:0000679) | 2.14599948 |
| 52 | Cystic liver disease (HP:0006706) | 2.14202443 |
| 53 | Genital tract atresia (HP:0001827) | 2.14162315 |
| 54 | Pendular nystagmus (HP:0012043) | 2.13982521 |
| 55 | Hypothermia (HP:0002045) | 2.13186962 |
| 56 | Abnormality of molar (HP:0011077) | 2.09608493 |
| 57 | Abnormality of molar morphology (HP:0011070) | 2.09608493 |
| 58 | Methylmalonic acidemia (HP:0002912) | 2.08509476 |
| 59 | Poor coordination (HP:0002370) | 2.08184197 |
| 60 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 2.04953344 |
| 61 | Febrile seizures (HP:0002373) | 2.03094703 |
| 62 | Facial cleft (HP:0002006) | 2.01987236 |
| 63 | Vaginal atresia (HP:0000148) | 2.00652098 |
| 64 | Abnormal biliary tract physiology (HP:0012439) | 2.00428143 |
| 65 | Bile duct proliferation (HP:0001408) | 2.00428143 |
| 66 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 11.5017155 |
| 67 | Abnormal ciliary motility (HP:0012262) | 10.9628339 |
| 68 | Abnormal respiratory motile cilium physiology (HP:0012261) | 10.8574724 |
| 69 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 1.98852805 |
| 70 | Thyroid-stimulating hormone excess (HP:0002925) | 1.98433951 |
| 71 | Decreased circulating renin level (HP:0003351) | 1.98081602 |
| 72 | Abnormal urine output (HP:0012590) | 1.97239490 |
| 73 | Stage 5 chronic kidney disease (HP:0003774) | 1.95944232 |
| 74 | Postaxial hand polydactyly (HP:0001162) | 1.94012528 |
| 75 | Abnormality of dentin (HP:0010299) | 1.93586719 |
| 76 | Genetic anticipation (HP:0003743) | 1.91521032 |
| 77 | Abnormality of the dental pulp (HP:0006479) | 1.90006568 |
| 78 | Methylmalonic aciduria (HP:0012120) | 1.89679403 |
| 79 | Keratoconjunctivitis (HP:0001096) | 1.86429414 |
| 80 | Aplasia/Hypoplasia of the spleen (HP:0010451) | 1.85864856 |
| 81 | Male pseudohermaphroditism (HP:0000037) | 1.85041076 |
| 82 | Tubular atrophy (HP:0000092) | 1.84980931 |
| 83 | Bony spicule pigmentary retinopathy (HP:0007737) | 1.84953479 |
| 84 | Abnormality of macular pigmentation (HP:0008002) | 1.84507014 |
| 85 | Keratoconus (HP:0000563) | 1.84471058 |
| 86 | Increased corneal curvature (HP:0100692) | 1.84471058 |
| 87 | Chromsome breakage (HP:0040012) | 1.83617529 |
| 88 | Abnormality of renal excretion (HP:0011036) | 1.83153553 |
| 89 | Tubulointerstitial abnormality (HP:0001969) | 1.82753751 |
| 90 | Asplenia (HP:0001746) | 1.82457871 |
| 91 | Large for gestational age (HP:0001520) | 1.81689482 |
| 92 | Inability to walk (HP:0002540) | 1.81565336 |
| 93 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.77985532 |
| 94 | Cerebellar dysplasia (HP:0007033) | 1.76091285 |
| 95 | Anencephaly (HP:0002323) | 1.75866288 |
| 96 | Lissencephaly (HP:0001339) | 1.73857985 |
| 97 | Congenital sensorineural hearing impairment (HP:0008527) | 1.73059018 |
| 98 | Progressive inability to walk (HP:0002505) | 1.72644304 |
| 99 | Oculomotor apraxia (HP:0000657) | 1.72579045 |
| 100 | Hypophosphatemic rickets (HP:0004912) | 1.71582995 |
| 101 | Tubulointerstitial fibrosis (HP:0005576) | 1.70493303 |
| 102 | 11 pairs of ribs (HP:0000878) | 1.68715698 |
| 103 | Hepatic necrosis (HP:0002605) | 1.66190813 |
| 104 | Orchitis (HP:0100796) | 1.64915479 |
| 105 | Absent speech (HP:0001344) | 1.64741245 |
| 106 | Broad-based gait (HP:0002136) | 1.63568663 |
| 107 | Chronic hepatic failure (HP:0100626) | 1.62442950 |
| 108 | Pachygyria (HP:0001302) | 1.62365978 |
| 109 | Hypoplasia of the fovea (HP:0007750) | 1.61395549 |
| 110 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 1.61395549 |
| 111 | Ketosis (HP:0001946) | 1.61228737 |
| 112 | Multicystic kidney dysplasia (HP:0000003) | 1.60139856 |
| 113 | Focal seizures (HP:0007359) | 1.59975012 |
| 114 | Abnormality of the renal cortex (HP:0011035) | 1.59711462 |
| 115 | Microglossia (HP:0000171) | 1.56938379 |
| 116 | Aplasia/Hypoplasia of the fibula (HP:0006492) | 1.56901924 |
| 117 | Recurrent bronchitis (HP:0002837) | 1.56691604 |
| 118 | Abnormal spermatogenesis (HP:0008669) | 1.54144174 |
| 119 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.53884774 |
| 120 | Aganglionic megacolon (HP:0002251) | 1.53776284 |
| 121 | Sclerocornea (HP:0000647) | 1.49657964 |
| 122 | Bell-shaped thorax (HP:0001591) | 1.49234756 |
| 123 | Abnormality of abdominal situs (HP:0011620) | 1.47467538 |
| 124 | Abdominal situs inversus (HP:0003363) | 1.47467538 |
| 125 | Nephropathy (HP:0000112) | 1.46298743 |
| 126 | Polydipsia (HP:0001959) | 1.45791957 |
| 127 | Abnormal drinking behavior (HP:0030082) | 1.45791957 |
| 128 | Astigmatism (HP:0000483) | 1.45542631 |
| 129 | Male infertility (HP:0003251) | 1.44870496 |
| 130 | Nephroblastoma (Wilms tumor) (HP:0002667) | 1.42848864 |
| 131 | Abnormality of renal resorption (HP:0011038) | 1.38655131 |
| 132 | Optic nerve hypoplasia (HP:0000609) | 1.37428083 |
| 133 | Decreased central vision (HP:0007663) | 1.36791479 |
| 134 | Atelectasis (HP:0100750) | 1.35356584 |
| 135 | Renal dysplasia (HP:0000110) | 1.34822570 |
| 136 | Azoospermia (HP:0000027) | 1.32927866 |
| 137 | Embryonal renal neoplasm (HP:0011794) | 1.32629099 |
| 138 | Hypodontia (HP:0000668) | 1.31894988 |
| 139 | Bifid tongue (HP:0010297) | 1.30258281 |
| 140 | Short tibia (HP:0005736) | 1.30237096 |
| 141 | Septo-optic dysplasia (HP:0100842) | 1.29254829 |
| 142 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.28875552 |
| 143 | Gonadotropin excess (HP:0000837) | 1.26406963 |
| 144 | Duplicated collecting system (HP:0000081) | 1.24695962 |
| 145 | Short ribs (HP:0000773) | 1.24495718 |
| 146 | 3-Methylglutaconic aciduria (HP:0003535) | 1.24198545 |
| 147 | Retinitis pigmentosa (HP:0000510) | 1.20564121 |
| 148 | Meckel diverticulum (HP:0002245) | 1.19551640 |
| 149 | Oligohydramnios (HP:0001562) | 1.18052434 |
| 150 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.17437705 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FRK | 5.79933632 |
| 2 | MAPK15 | 4.31170217 |
| 3 | PDK3 | 4.09353016 |
| 4 | PDK4 | 4.09353016 |
| 5 | PNCK | 3.86254561 |
| 6 | PDK2 | 3.01310780 |
| 7 | CASK | 3.00394446 |
| 8 | MAP4K2 | 2.78534954 |
| 9 | WNK3 | 2.49283657 |
| 10 | MAP3K4 | 2.30808784 |
| 11 | STK39 | 2.09993315 |
| 12 | EPHA3 | 2.00952363 |
| 13 | ACVR1B | 1.94739675 |
| 14 | PLK4 | 1.94109658 |
| 15 | TNIK | 1.86561582 |
| 16 | INSRR | 1.82909946 |
| 17 | SRPK1 | 1.81792536 |
| 18 | MAP2K7 | 1.79401455 |
| 19 | ZAK | 1.76234648 |
| 20 | TAOK3 | 1.74501984 |
| 21 | STK16 | 1.68483003 |
| 22 | NEK6 | 1.61754869 |
| 23 | MUSK | 1.58705507 |
| 24 | IRAK1 | 1.55263459 |
| 25 | CDK3 | 1.54718027 |
| 26 | VRK1 | 1.52033428 |
| 27 | BMPR1B | 1.48621988 |
| 28 | MKNK2 | 1.47918404 |
| 29 | WEE1 | 1.46301467 |
| 30 | PINK1 | 1.43987785 |
| 31 | WNK4 | 1.40212355 |
| 32 | ADRBK2 | 1.38114171 |
| 33 | TESK1 | 1.37847139 |
| 34 | IRAK4 | 1.37209111 |
| 35 | IRAK3 | 1.32057175 |
| 36 | GRK1 | 1.28348015 |
| 37 | TXK | 1.27580912 |
| 38 | PTK2B | 1.26157893 |
| 39 | BMPR2 | 1.25650200 |
| 40 | TTK | 1.21089026 |
| 41 | YES1 | 1.20114598 |
| 42 | PASK | 1.19061899 |
| 43 | PHKG1 | 1.18551686 |
| 44 | PHKG2 | 1.18551686 |
| 45 | PAK3 | 1.18049184 |
| 46 | CSNK1G2 | 1.12367889 |
| 47 | FGFR2 | 1.10229681 |
| 48 | CSNK1G3 | 1.08332604 |
| 49 | NTRK2 | 1.05717787 |
| 50 | NTRK3 | 1.04945596 |
| 51 | BRSK2 | 1.04733758 |
| 52 | EIF2AK2 | 1.04142758 |
| 53 | MAPK13 | 1.03286161 |
| 54 | CSNK1A1L | 1.02115874 |
| 55 | GRK7 | 1.01829922 |
| 56 | PBK | 1.01491733 |
| 57 | CSNK1G1 | 1.01424777 |
| 58 | DAPK2 | 1.01295884 |
| 59 | BCR | 0.98845042 |
| 60 | DYRK2 | 0.95719627 |
| 61 | FER | 0.90087175 |
| 62 | DYRK3 | 0.88735886 |
| 63 | WNK1 | 0.88284411 |
| 64 | PLK2 | 0.87878778 |
| 65 | ADRBK1 | 0.86553084 |
| 66 | CHEK2 | 0.85795700 |
| 67 | ICK | 0.83889652 |
| 68 | MKNK1 | 0.83591910 |
| 69 | STK38L | 0.82847728 |
| 70 | IRAK2 | 0.82407425 |
| 71 | MST4 | 0.82292646 |
| 72 | IKBKB | 0.81277507 |
| 73 | CDK19 | 0.78183738 |
| 74 | TRIM28 | 0.77072303 |
| 75 | AKT3 | 0.75954784 |
| 76 | PRPF4B | 0.75724072 |
| 77 | BCKDK | 0.73935162 |
| 78 | MARK1 | 0.73710899 |
| 79 | PLK1 | 0.71579610 |
| 80 | CAMKK1 | 0.69969105 |
| 81 | OXSR1 | 0.69642451 |
| 82 | NUAK1 | 0.69437859 |
| 83 | TIE1 | 0.68941725 |
| 84 | ITK | 0.67659131 |
| 85 | AURKA | 0.66859498 |
| 86 | MAPKAPK3 | 0.65728392 |
| 87 | KIT | 0.65645168 |
| 88 | PLK3 | 0.65178037 |
| 89 | CAMKK2 | 0.64963001 |
| 90 | CHUK | 0.64947615 |
| 91 | OBSCN | 0.63924003 |
| 92 | BUB1 | 0.63756609 |
| 93 | PRKCG | 0.63567189 |
| 94 | ERBB3 | 0.62996470 |
| 95 | CDC7 | 0.62053669 |
| 96 | PKN1 | 0.61391107 |
| 97 | PRKCI | 0.60034805 |
| 98 | PIK3CA | 0.58959958 |
| 99 | CLK1 | 0.58859588 |
| 100 | TEC | 0.57351995 |
| 101 | ATR | 0.57042738 |
| 102 | FGR | 0.56994975 |
| 103 | STK38 | 0.56780329 |
| 104 | STK3 | 0.56616482 |
| 105 | BRAF | 0.56367831 |
| 106 | MAPKAPK5 | 0.55709003 |
| 107 | STK11 | 0.54387606 |
| 108 | MARK3 | 0.53228177 |
| 109 | CCNB1 | 0.51521675 |
| 110 | SGK2 | 0.51171302 |
| 111 | CSNK1A1 | 0.47623761 |
| 112 | MAP2K4 | 0.47236452 |
| 113 | EPHA4 | 0.46855187 |
| 114 | NEK2 | 0.46537479 |
| 115 | RPS6KA5 | 0.46197765 |
| 116 | SGK223 | 0.44423993 |
| 117 | SGK494 | 0.44423993 |
| 118 | TLK1 | 0.43175707 |
| 119 | TNK2 | 0.42756431 |
| 120 | CAMK2A | 0.40774817 |
| 121 | PRKG1 | 0.40214947 |
| 122 | TSSK6 | 0.39846344 |
| 123 | PRKCE | 0.39655110 |
| 124 | ATM | 0.39269373 |
| 125 | PRKAA2 | 0.37139961 |
| 126 | SIK3 | 0.37036054 |
| 127 | PRKCA | 0.35921812 |
| 128 | MAP3K7 | 0.35367146 |
| 129 | MAP3K14 | 0.35137702 |
| 130 | BRD4 | 0.35020465 |
| 131 | TGFBR1 | 0.34530770 |
| 132 | NLK | 0.33098017 |
| 133 | CSNK2A1 | 0.33037633 |
| 134 | PRKACA | 0.32375199 |
| 135 | PRKCH | 0.31741995 |
| 136 | ERBB2 | 0.30734913 |
| 137 | RPS6KB1 | 0.30172822 |
| 138 | FGFR3 | 0.30088793 |
| 139 | DYRK1A | 0.28608741 |
| 140 | PRKCZ | 0.28388682 |
| 141 | IKBKE | 0.28331995 |
| 142 | CHEK1 | 0.27634407 |
| 143 | CSNK1D | 0.27259487 |
| 144 | NME1 | 0.27058234 |
| 145 | MOS | 0.26256244 |
| 146 | PIM2 | 0.25822139 |
| 147 | PRKCQ | 0.25326908 |
| 148 | MAP2K6 | 0.24090770 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 3.49449021 |
| 2 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 3.20664549 |
| 3 | Huntingtons disease_Homo sapiens_hsa05016 | 3.09835959 |
| 4 | Basal transcription factors_Homo sapiens_hsa03022 | 2.96905152 |
| 5 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.29550679 |
| 6 | Ether lipid metabolism_Homo sapiens_hsa00565 | 2.28944307 |
| 7 | Homologous recombination_Homo sapiens_hsa03440 | 2.25312229 |
| 8 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 2.17050957 |
| 9 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.11562855 |
| 10 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.05307897 |
| 11 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.94562646 |
| 12 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 1.88404084 |
| 13 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.83255771 |
| 14 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.80789209 |
| 15 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.80023206 |
| 16 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.72178202 |
| 17 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.68557012 |
| 18 | Nicotine addiction_Homo sapiens_hsa05033 | 1.66129260 |
| 19 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.65948035 |
| 20 | RNA polymerase_Homo sapiens_hsa03020 | 1.65490036 |
| 21 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.64545796 |
| 22 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.64479223 |
| 23 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.62919741 |
| 24 | Protein export_Homo sapiens_hsa03060 | 1.62850110 |
| 25 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.60829867 |
| 26 | * Purine metabolism_Homo sapiens_hsa00230 | 1.59303519 |
| 27 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 1.52745662 |
| 28 | Parkinsons disease_Homo sapiens_hsa05012 | 1.50807201 |
| 29 | * Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.49929172 |
| 30 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.48981276 |
| 31 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.47787887 |
| 32 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.47275831 |
| 33 | Proteasome_Homo sapiens_hsa03050 | 1.43853513 |
| 34 | Peroxisome_Homo sapiens_hsa04146 | 1.38668031 |
| 35 | ABC transporters_Homo sapiens_hsa02010 | 1.38443628 |
| 36 | Alzheimers disease_Homo sapiens_hsa05010 | 1.38332514 |
| 37 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.37978346 |
| 38 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 1.36549682 |
| 39 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.33450189 |
| 40 | RNA degradation_Homo sapiens_hsa03018 | 1.32223347 |
| 41 | Phototransduction_Homo sapiens_hsa04744 | 1.31291529 |
| 42 | Ribosome_Homo sapiens_hsa03010 | 1.29755086 |
| 43 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.26531365 |
| 44 | Insulin secretion_Homo sapiens_hsa04911 | 1.25183162 |
| 45 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.22839482 |
| 46 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.22587062 |
| 47 | Taste transduction_Homo sapiens_hsa04742 | 1.20943039 |
| 48 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.20571566 |
| 49 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 1.19190287 |
| 50 | DNA replication_Homo sapiens_hsa03030 | 1.17444596 |
| 51 | GABAergic synapse_Homo sapiens_hsa04727 | 1.14867102 |
| 52 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.13052266 |
| 53 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.10637653 |
| 54 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.02467190 |
| 55 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.01675041 |
| 56 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.98552535 |
| 57 | Spliceosome_Homo sapiens_hsa03040 | 0.98132547 |
| 58 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.97859752 |
| 59 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.96873723 |
| 60 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.93980992 |
| 61 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.93484972 |
| 62 | Mismatch repair_Homo sapiens_hsa03430 | 0.92800478 |
| 63 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.92302056 |
| 64 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.92297638 |
| 65 | Salivary secretion_Homo sapiens_hsa04970 | 0.91791731 |
| 66 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.91714062 |
| 67 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.89410622 |
| 68 | Allograft rejection_Homo sapiens_hsa05330 | 0.87684548 |
| 69 | Cell cycle_Homo sapiens_hsa04110 | 0.87624478 |
| 70 | Base excision repair_Homo sapiens_hsa03410 | 0.86229354 |
| 71 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.86134576 |
| 72 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.85915756 |
| 73 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.84643764 |
| 74 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.84587630 |
| 75 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.83527216 |
| 76 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.82999836 |
| 77 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.78616669 |
| 78 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.77030279 |
| 79 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.77003442 |
| 80 | Retinol metabolism_Homo sapiens_hsa00830 | 0.76492351 |
| 81 | Histidine metabolism_Homo sapiens_hsa00340 | 0.76465494 |
| 82 | Mineral absorption_Homo sapiens_hsa04978 | 0.76222768 |
| 83 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.72877992 |
| 84 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.70334795 |
| 85 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.70067281 |
| 86 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.69078958 |
| 87 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.68818627 |
| 88 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.68557515 |
| 89 | RNA transport_Homo sapiens_hsa03013 | 0.68172494 |
| 90 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.67946506 |
| 91 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.67032656 |
| 92 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.66408305 |
| 93 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.66206136 |
| 94 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.66119773 |
| 95 | Cocaine addiction_Homo sapiens_hsa05030 | 0.65964801 |
| 96 | * Metabolic pathways_Homo sapiens_hsa01100 | 0.65497571 |
| 97 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.65113672 |
| 98 | Morphine addiction_Homo sapiens_hsa05032 | 0.60916911 |
| 99 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.59765436 |
| 100 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.57666438 |
| 101 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.56786944 |
| 102 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.55585796 |
| 103 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.55020073 |
| 104 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.54147634 |
| 105 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.51639616 |
| 106 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.50824700 |
| 107 | Renin secretion_Homo sapiens_hsa04924 | 0.49057637 |
| 108 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.48731888 |
| 109 | Axon guidance_Homo sapiens_hsa04360 | 0.48457061 |
| 110 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.48290602 |
| 111 | Olfactory transduction_Homo sapiens_hsa04740 | 0.48100140 |
| 112 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.47517364 |
| 113 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.46581808 |
| 114 | Long-term depression_Homo sapiens_hsa04730 | 0.46079666 |
| 115 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.45444528 |
| 116 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.44098307 |
| 117 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.44059648 |
| 118 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.43851650 |
| 119 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.42360226 |
| 120 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.42222203 |
| 121 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.42071813 |
| 122 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.41147225 |
| 123 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.40830475 |
| 124 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.40564617 |
| 125 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.38525159 |
| 126 | Other glycan degradation_Homo sapiens_hsa00511 | 0.37778620 |
| 127 | Circadian entrainment_Homo sapiens_hsa04713 | 0.36698678 |
| 128 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.36237038 |
| 129 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.34118252 |
| 130 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.33931824 |
| 131 | Asthma_Homo sapiens_hsa05310 | 0.33807357 |
| 132 | Circadian rhythm_Homo sapiens_hsa04710 | 0.33568261 |
| 133 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.33440645 |
| 134 | Phagosome_Homo sapiens_hsa04145 | 0.32559521 |
| 135 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.31958859 |
| 136 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.30542950 |

