

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | epithelial cilium movement (GO:0003351) | 9.75736723 |
| 2 | sperm motility (GO:0030317) | 9.61756392 |
| 3 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.52369479 |
| 4 | cilium movement (GO:0003341) | 9.23502544 |
| 5 | acrosome reaction (GO:0007340) | 8.73789420 |
| 6 | acrosome assembly (GO:0001675) | 8.58567185 |
| 7 | multicellular organism reproduction (GO:0032504) | 8.58204746 |
| 8 | motile cilium assembly (GO:0044458) | 8.57425313 |
| 9 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 8.29776923 |
| 10 | cell wall macromolecule catabolic process (GO:0016998) | 8.21708318 |
| 11 | cell wall macromolecule metabolic process (GO:0044036) | 8.21708318 |
| 12 | sperm-egg recognition (GO:0035036) | 8.02588029 |
| 13 | plasma membrane fusion (GO:0045026) | 7.35529235 |
| 14 | piRNA metabolic process (GO:0034587) | 7.28284476 |
| 15 | binding of sperm to zona pellucida (GO:0007339) | 7.19122668 |
| 16 | cell-cell recognition (GO:0009988) | 7.11848108 |
| 17 | spermatid development (GO:0007286) | 6.95397007 |
| 18 | reproduction (GO:0000003) | 6.90872647 |
| 19 | regulation of cilium movement (GO:0003352) | 6.64649388 |
| 20 | male meiosis (GO:0007140) | 6.35651195 |
| 21 | single fertilization (GO:0007338) | 5.97627695 |
| 22 | ventricular system development (GO:0021591) | 5.54471042 |
| 23 | microtubule depolymerization (GO:0007019) | 5.41710456 |
| 24 | sperm capacitation (GO:0048240) | 5.40912936 |
| 25 | synaptonemal complex organization (GO:0070193) | 5.23844204 |
| 26 | intraciliary transport (GO:0042073) | 5.01544241 |
| 27 | DNA methylation involved in gamete generation (GO:0043046) | 5.01405229 |
| 28 | fertilization (GO:0009566) | 4.80607843 |
| 29 | synaptonemal complex assembly (GO:0007130) | 4.77291619 |
| 30 | protein localization to cilium (GO:0061512) | 4.70457777 |
| 31 | behavioral response to nicotine (GO:0035095) | 4.67646219 |
| 32 | spermatogenesis (GO:0007283) | 4.58124268 |
| 33 | male gamete generation (GO:0048232) | 4.56306208 |
| 34 | axoneme assembly (GO:0035082) | 4.54894666 |
| 35 | calcium ion-dependent exocytosis (GO:0017156) | 4.54043656 |
| 36 | male meiosis I (GO:0007141) | 4.41392964 |
| 37 | cilium organization (GO:0044782) | 4.34912232 |
| 38 | cilium assembly (GO:0042384) | 4.29765014 |
| 39 | gamete generation (GO:0007276) | 4.22872277 |
| 40 | negative regulation of inclusion body assembly (GO:0090084) | 4.16715566 |
| 41 | tryptophan catabolic process (GO:0006569) | 4.10801112 |
| 42 | indole-containing compound catabolic process (GO:0042436) | 4.10801112 |
| 43 | indolalkylamine catabolic process (GO:0046218) | 4.10801112 |
| 44 | indolalkylamine metabolic process (GO:0006586) | 4.07769099 |
| 45 | microtubule severing (GO:0051013) | 4.06367488 |
| 46 | spermatid nucleus differentiation (GO:0007289) | 3.92324246 |
| 47 | kynurenine metabolic process (GO:0070189) | 3.91732127 |
| 48 | cell recognition (GO:0008037) | 3.89789502 |
| 49 | germ cell development (GO:0007281) | 3.88353513 |
| 50 | organic cation transport (GO:0015695) | 3.87545781 |
| 51 | centriole assembly (GO:0098534) | 3.86768856 |
| 52 | detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) | 3.84954110 |
| 53 | chromosome organization involved in meiosis (GO:0070192) | 3.80904143 |
| 54 | GTP biosynthetic process (GO:0006183) | 3.79675572 |
| 55 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.79464847 |
| 56 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.69314423 |
| 57 | left/right axis specification (GO:0070986) | 3.65869167 |
| 58 | fucose catabolic process (GO:0019317) | 3.64957352 |
| 59 | L-fucose metabolic process (GO:0042354) | 3.64957352 |
| 60 | L-fucose catabolic process (GO:0042355) | 3.64957352 |
| 61 | left/right pattern formation (GO:0060972) | 3.64192339 |
| 62 | photoreceptor cell maintenance (GO:0045494) | 3.62696626 |
| 63 | cellular component assembly involved in morphogenesis (GO:0010927) | 3.62493215 |
| 64 | neural tube formation (GO:0001841) | 3.61094507 |
| 65 | response to pheromone (GO:0019236) | 3.61043399 |
| 66 | cellular ketone body metabolic process (GO:0046950) | 3.54471861 |
| 67 | tryptophan metabolic process (GO:0006568) | 3.49398071 |
| 68 | meiotic nuclear division (GO:0007126) | 3.47911318 |
| 69 | gamma-aminobutyric acid transport (GO:0015812) | 3.43272170 |
| 70 | cilium morphogenesis (GO:0060271) | 3.42944259 |
| 71 | regulation of microtubule-based movement (GO:0060632) | 3.41349155 |
| 72 | meiotic cell cycle (GO:0051321) | 3.39404829 |
| 73 | detection of light stimulus involved in visual perception (GO:0050908) | 3.39090458 |
| 74 | detection of light stimulus involved in sensory perception (GO:0050962) | 3.39090458 |
| 75 | single strand break repair (GO:0000012) | 3.37848462 |
| 76 | regulation of inclusion body assembly (GO:0090083) | 3.33363893 |
| 77 | multicellular organismal reproductive process (GO:0048609) | 3.28561284 |
| 78 | meiosis I (GO:0007127) | 3.25587533 |
| 79 | centriole replication (GO:0007099) | 3.22708696 |
| 80 | microtubule-based movement (GO:0007018) | 3.20001648 |
| 81 | protein K11-linked deubiquitination (GO:0035871) | 3.19410641 |
| 82 | indole-containing compound metabolic process (GO:0042430) | 3.19180382 |
| 83 | behavioral response to ethanol (GO:0048149) | 3.18641850 |
| 84 | ketone body metabolic process (GO:1902224) | 3.16442494 |
| 85 | protein polyglutamylation (GO:0018095) | 3.14684200 |
| 86 | reflex (GO:0060004) | 3.11978720 |
| 87 | signal peptide processing (GO:0006465) | 3.11243393 |
| 88 | regulation of action potential (GO:0098900) | 3.06959398 |
| 89 | seminiferous tubule development (GO:0072520) | 3.06734869 |
| 90 | UTP biosynthetic process (GO:0006228) | 3.02738363 |
| 91 | synapsis (GO:0007129) | 3.02544709 |
| 92 | neuronal action potential (GO:0019228) | 3.01635569 |
| 93 | retinal cone cell development (GO:0046549) | 2.99515467 |
| 94 | pyrimidine nucleobase catabolic process (GO:0006208) | 2.97068377 |
| 95 | serotonin metabolic process (GO:0042428) | 2.95844803 |
| 96 | negative regulation of cytosolic calcium ion concentration (GO:0051481) | 2.93161254 |
| 97 | auditory receptor cell stereocilium organization (GO:0060088) | 2.91201397 |
| 98 | transmission of nerve impulse (GO:0019226) | 2.90248924 |
| 99 | cellular biogenic amine catabolic process (GO:0042402) | 2.88347509 |
| 100 | amine catabolic process (GO:0009310) | 2.88347509 |
| 101 | primary amino compound metabolic process (GO:1901160) | 2.87493394 |
| 102 | establishment of protein localization to Golgi (GO:0072600) | 2.85780582 |
| 103 | nonmotile primary cilium assembly (GO:0035058) | 2.84073159 |
| 104 | inner ear receptor stereocilium organization (GO:0060122) | 2.83968717 |
| 105 | sulfation (GO:0051923) | 2.82629794 |
| 106 | G-protein coupled glutamate receptor signaling pathway (GO:0007216) | 2.80073401 |
| 107 | calcium ion import (GO:0070509) | 2.79156096 |
| 108 | spinal cord motor neuron differentiation (GO:0021522) | 2.79149367 |
| 109 | microtubule polymerization or depolymerization (GO:0031109) | 2.76616592 |
| 110 | guanosine-containing compound biosynthetic process (GO:1901070) | 2.72171720 |
| 111 | lactate metabolic process (GO:0006089) | 2.70994590 |
| 112 | multicellular organismal development (GO:0007275) | 2.70246218 |
| 113 | membrane depolarization during action potential (GO:0086010) | 2.69684025 |
| 114 | genitalia morphogenesis (GO:0035112) | 2.68940347 |
| 115 | detection of mechanical stimulus involved in sensory perception (GO:0050974) | 2.68156690 |
| 116 | negative regulation of mast cell activation (GO:0033004) | 2.66141277 |
| 117 | benzene-containing compound metabolic process (GO:0042537) | 2.65436089 |
| 118 | regulation of hippo signaling (GO:0035330) | 2.65168365 |
| 119 | oxidative demethylation (GO:0070989) | 2.64421898 |
| 120 | tachykinin receptor signaling pathway (GO:0007217) | 2.62531407 |
| 121 | nucleobase catabolic process (GO:0046113) | 2.62430074 |
| 122 | startle response (GO:0001964) | 2.59969251 |
| 123 | cell projection assembly (GO:0030031) | 2.58785063 |
| 124 | polyol catabolic process (GO:0046174) | 2.58172607 |
| 125 | positive regulation of oligodendrocyte differentiation (GO:0048714) | 2.56667568 |
| 126 | photoreceptor cell development (GO:0042461) | 2.54357343 |
| 127 | proline transport (GO:0015824) | 2.52471777 |
| 128 | membrane depolarization during cardiac muscle cell action potential (GO:0086012) | 2.52208289 |
| 129 | positive regulation of action potential (GO:0045760) | 2.51067727 |
| 130 | female gonad development (GO:0008585) | 2.49122291 |
| 131 | thyroid hormone metabolic process (GO:0042403) | 2.48777056 |
| 132 | cAMP catabolic process (GO:0006198) | 2.48604302 |
| 133 | kidney morphogenesis (GO:0060993) | 2.48568559 |
| 134 | smoothened signaling pathway (GO:0007224) | 2.48131789 |
| 135 | UTP metabolic process (GO:0046051) | 2.47573532 |
| 136 | interkinetic nuclear migration (GO:0022027) | 2.45280396 |
| 137 | neuronal action potential propagation (GO:0019227) | 2.44537065 |
| 138 | regulation of meiosis I (GO:0060631) | 2.44027481 |
| 139 | adaptation of signaling pathway (GO:0023058) | 2.41010278 |
| 140 | drug catabolic process (GO:0042737) | 2.39006545 |
| 141 | rRNA catabolic process (GO:0016075) | 2.38267451 |
| 142 | negative regulation of translation, ncRNA-mediated (GO:0040033) | 2.38250755 |
| 143 | regulation of translation, ncRNA-mediated (GO:0045974) | 2.38250755 |
| 144 | negative regulation of translation involved in gene silencing by miRNA (GO:0035278) | 2.38250755 |
| 145 | cornea development in camera-type eye (GO:0061303) | 2.37794857 |
| 146 | aromatic amino acid family catabolic process (GO:0009074) | 2.37460635 |
| 147 | regulation of pigment cell differentiation (GO:0050932) | 2.37011830 |
| 148 | platelet dense granule organization (GO:0060155) | 2.35404671 |
| 149 | regulation of collateral sprouting (GO:0048670) | 2.34766556 |
| 150 | microtubule bundle formation (GO:0001578) | 2.32910929 |
| 151 | DNA deamination (GO:0045006) | 2.32775964 |
| 152 | negative regulation of systemic arterial blood pressure (GO:0003085) | 2.32499638 |
| 153 | sulfate transmembrane transport (GO:1902358) | 2.32439981 |
| 154 | positive regulation of phosphoprotein phosphatase activity (GO:0032516) | 2.31775714 |
| 155 | organelle assembly (GO:0070925) | 2.31737431 |
| 156 | glutamate receptor signaling pathway (GO:0007215) | 2.31054925 |
| 157 | urinary tract smooth muscle contraction (GO:0014848) | 2.30851991 |
| 158 | presynaptic membrane assembly (GO:0097105) | 2.29772116 |
| 159 | limb development (GO:0060173) | 2.29680555 |
| 160 | appendage development (GO:0048736) | 2.29680555 |
| 161 | glycerol ether metabolic process (GO:0006662) | 2.28989349 |
| 162 | meiotic cell cycle process (GO:1903046) | 2.27326121 |
| 163 | pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148) | 2.27260520 |
| 164 | cellular response to gamma radiation (GO:0071480) | 2.24674616 |
| 165 | CTP biosynthetic process (GO:0006241) | 2.24213099 |
| 166 | CTP metabolic process (GO:0046036) | 2.24213099 |
| 167 | monoubiquitinated protein deubiquitination (GO:0035520) | 2.21694628 |
| 168 | regulation of centriole replication (GO:0046599) | 2.21208516 |
| 169 | positive regulation of meiosis (GO:0045836) | 2.20983829 |
| 170 | positive regulation of meiotic cell cycle (GO:0051446) | 2.18225760 |
| 171 | regulation of acrosome reaction (GO:0060046) | 2.13974181 |
| 172 | cilium or flagellum-dependent cell motility (GO:0001539) | 12.6086230 |
| 173 | axonemal dynein complex assembly (GO:0070286) | 10.3953914 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.61374603 |
| 2 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 4.39036070 |
| 3 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.16931437 |
| 4 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.93840159 |
| 5 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 2.89578886 |
| 6 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.88688279 |
| 7 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.75510766 |
| 8 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.66093645 |
| 9 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 2.57356582 |
| 10 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.33749248 |
| 11 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 2.17155511 |
| 12 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 2.15840582 |
| 13 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 2.14196618 |
| 14 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 2.08823323 |
| 15 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.06224571 |
| 16 | VDR_22108803_ChIP-Seq_LS180_Human | 2.02839235 |
| 17 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.99247635 |
| 18 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.96302684 |
| 19 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.96155194 |
| 20 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.89817640 |
| 21 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.89121095 |
| 22 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.81137845 |
| 23 | EWS_26573619_Chip-Seq_HEK293_Human | 1.81018815 |
| 24 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.79955809 |
| 25 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.76283968 |
| 26 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.70165438 |
| 27 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.69856737 |
| 28 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.68916755 |
| 29 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.66710285 |
| 30 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.66603200 |
| 31 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.66468484 |
| 32 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.65921430 |
| 33 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.64875529 |
| 34 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.64377444 |
| 35 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.64364577 |
| 36 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.63263126 |
| 37 | P300_19829295_ChIP-Seq_ESCs_Human | 1.62400604 |
| 38 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.61954608 |
| 39 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.61216555 |
| 40 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.59835108 |
| 41 | FUS_26573619_Chip-Seq_HEK293_Human | 1.58503392 |
| 42 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.57844104 |
| 43 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.56262635 |
| 44 | * MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.55928138 |
| 45 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.54987162 |
| 46 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.53874206 |
| 47 | NMYC_18555785_Chip-Seq_ESCs_Mouse | 1.52531986 |
| 48 | RUNX1_27457419_Chip-Seq_LIVER_Mouse | 1.51823070 |
| 49 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 1.49829099 |
| 50 | KDM2B_26808549_Chip-Seq_REH_Human | 1.49280469 |
| 51 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.48864886 |
| 52 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.47655864 |
| 53 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.47401744 |
| 54 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.47401744 |
| 55 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.46631750 |
| 56 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.46258579 |
| 57 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.45074314 |
| 58 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.44416646 |
| 59 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.44092637 |
| 60 | * EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.42723860 |
| 61 | PU1_27457419_Chip-Seq_LIVER_Mouse | 1.42032055 |
| 62 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.41734068 |
| 63 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.41424479 |
| 64 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.41245177 |
| 65 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 1.41193141 |
| 66 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.39203316 |
| 67 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.38891486 |
| 68 | ZFX_18555785_Chip-Seq_ESCs_Mouse | 1.37626844 |
| 69 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.36634340 |
| 70 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.33872431 |
| 71 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.33627322 |
| 72 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.32581749 |
| 73 | CTCF_18555785_Chip-Seq_ESCs_Mouse | 1.31646666 |
| 74 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.30581566 |
| 75 | SMAD1_18555785_Chip-Seq_ESCs_Mouse | 1.30497267 |
| 76 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.29235398 |
| 77 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.27668574 |
| 78 | * TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.27413611 |
| 79 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.26529053 |
| 80 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.25849010 |
| 81 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.25819710 |
| 82 | TCF4_23295773_ChIP-Seq_U87_Human | 1.25242580 |
| 83 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.23639056 |
| 84 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.23590755 |
| 85 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.23521543 |
| 86 | * TP53_22573176_ChIP-Seq_HFKS_Human | 1.23022802 |
| 87 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.23008738 |
| 88 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.22207094 |
| 89 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.22207094 |
| 90 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.21967625 |
| 91 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.21962996 |
| 92 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.21888738 |
| 93 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.21832823 |
| 94 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.21506701 |
| 95 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.21408371 |
| 96 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.19282919 |
| 97 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.18964600 |
| 98 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.18398077 |
| 99 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.18398077 |
| 100 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.18144382 |
| 101 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.16905368 |
| 102 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.15659250 |
| 103 | TP53_16413492_ChIP-PET_HCT116_Human | 1.15476833 |
| 104 | STAT3_23295773_ChIP-Seq_U87_Human | 1.14971179 |
| 105 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.13162913 |
| 106 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.12112742 |
| 107 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 1.11519221 |
| 108 | SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse | 1.11450603 |
| 109 | AR_25329375_ChIP-Seq_VCAP_Human | 1.09653216 |
| 110 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.08904645 |
| 111 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.08180614 |
| 112 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.07833178 |
| 113 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.06246620 |
| 114 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.06246620 |
| 115 | * TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 1.05911372 |
| 116 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.05403976 |
| 117 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.05287688 |
| 118 | SOX9_26525672_Chip-Seq_HEART_Mouse | 1.05115477 |
| 119 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.04445990 |
| 120 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.03750821 |
| 121 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.03259539 |
| 122 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.02743150 |
| 123 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.02432474 |
| 124 | NCOR_22424771_ChIP-Seq_293T_Human | 1.01499777 |
| 125 | CDX2_22108803_ChIP-Seq_LS180_Human | 1.01333945 |
| 126 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.00006768 |
| 127 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 0.99566446 |
| 128 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 0.99435247 |
| 129 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.97598311 |
| 130 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 0.97393172 |
| 131 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 0.97286313 |
| 132 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 0.97248421 |
| 133 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 0.95579879 |
| 134 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 0.94247174 |
| 135 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 0.93470946 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 9.48862640 |
| 2 | MP0003698_abnormal_male_reproductive | 4.04779491 |
| 3 | MP0008877_abnormal_DNA_methylation | 3.56631008 |
| 4 | MP0001929_abnormal_gametogenesis | 3.53009009 |
| 5 | MP0003195_calcinosis | 2.93031164 |
| 6 | MP0003136_yellow_coat_color | 2.88481210 |
| 7 | MP0002210_abnormal_sex_determination | 2.54129062 |
| 8 | MP0006292_abnormal_olfactory_placode | 2.49926778 |
| 9 | MP0003880_abnormal_central_pattern | 2.49228664 |
| 10 | MP0001188_hyperpigmentation | 2.40325404 |
| 11 | MP0001984_abnormal_olfaction | 2.26844918 |
| 12 | MP0002102_abnormal_ear_morphology | 2.26237579 |
| 13 | MP0002161_abnormal_fertility/fecundity | 2.06783424 |
| 14 | MP0005646_abnormal_pituitary_gland | 2.06387407 |
| 15 | MP0009046_muscle_twitch | 2.01760273 |
| 16 | MP0001145_abnormal_male_reproductive | 1.94633510 |
| 17 | MP0001986_abnormal_taste_sensitivity | 1.94328119 |
| 18 | MP0000566_synostosis | 1.92569248 |
| 19 | MP0004043_abnormal_pH_regulation | 1.89528354 |
| 20 | MP0003646_muscle_fatigue | 1.86538700 |
| 21 | MP0001968_abnormal_touch/_nociception | 1.77303882 |
| 22 | MP0000653_abnormal_sex_gland | 1.75956015 |
| 23 | MP0002735_abnormal_chemical_nociception | 1.75828626 |
| 24 | MP0008058_abnormal_DNA_repair | 1.75784734 |
| 25 | MP0002736_abnormal_nociception_after | 1.73079120 |
| 26 | MP0002837_dystrophic_cardiac_calcinosis | 1.72268518 |
| 27 | MP0002160_abnormal_reproductive_system | 1.71034024 |
| 28 | MP0000427_abnormal_hair_cycle | 1.69263996 |
| 29 | MP0001485_abnormal_pinna_reflex | 1.61005463 |
| 30 | MP0000015_abnormal_ear_pigmentation | 1.60752219 |
| 31 | MP0002653_abnormal_ependyma_morphology | 1.60138681 |
| 32 | MP0005171_absent_coat_pigmentation | 1.59425714 |
| 33 | MP0006072_abnormal_retinal_apoptosis | 1.57107622 |
| 34 | MP0005409_darkened_coat_color | 1.54938096 |
| 35 | MP0005670_abnormal_white_adipose | 1.52278992 |
| 36 | MP0005645_abnormal_hypothalamus_physiol | 1.52015823 |
| 37 | MP0004885_abnormal_endolymph | 1.45466586 |
| 38 | MP0008875_abnormal_xenobiotic_pharmacok | 1.45446334 |
| 39 | MP0008872_abnormal_physiological_respon | 1.45080424 |
| 40 | MP0009745_abnormal_behavioral_response | 1.44988939 |
| 41 | MP0003787_abnormal_imprinting | 1.42910172 |
| 42 | MP0002733_abnormal_thermal_nociception | 1.39215372 |
| 43 | MP0002572_abnormal_emotion/affect_behav | 1.36848918 |
| 44 | MP0005386_behavior/neurological_phenoty | 1.36466688 |
| 45 | MP0004924_abnormal_behavior | 1.36466688 |
| 46 | MP0002638_abnormal_pupillary_reflex | 1.35264217 |
| 47 | MP0009697_abnormal_copulation | 1.34306504 |
| 48 | MP0006276_abnormal_autonomic_nervous | 1.33913017 |
| 49 | MP0001486_abnormal_startle_reflex | 1.32885481 |
| 50 | MP0002928_abnormal_bile_duct | 1.32552450 |
| 51 | MP0002876_abnormal_thyroid_physiology | 1.30893980 |
| 52 | MP0000383_abnormal_hair_follicle | 1.29063819 |
| 53 | MP0001529_abnormal_vocalization | 1.26955467 |
| 54 | MP0003635_abnormal_synaptic_transmissio | 1.23840965 |
| 55 | MP0008057_abnormal_DNA_replication | 1.22982370 |
| 56 | MP0004147_increased_porphyrin_level | 1.21188595 |
| 57 | MP0004145_abnormal_muscle_electrophysio | 1.19799540 |
| 58 | MP0000569_abnormal_digit_pigmentation | 1.19650559 |
| 59 | MP0002063_abnormal_learning/memory/cond | 1.18379759 |
| 60 | MP0002557_abnormal_social/conspecific_i | 1.15039722 |
| 61 | MP0003121_genomic_imprinting | 1.15001064 |
| 62 | MP0002067_abnormal_sensory_capabilities | 1.13935867 |
| 63 | MP0004859_abnormal_synaptic_plasticity | 1.13775392 |
| 64 | MP0003011_delayed_dark_adaptation | 1.13131706 |
| 65 | MP0002734_abnormal_mechanical_nocicepti | 1.13087221 |
| 66 | MP0002277_abnormal_respiratory_mucosa | 1.08727552 |
| 67 | MP0010386_abnormal_urinary_bladder | 1.08197566 |
| 68 | MP0002272_abnormal_nervous_system | 1.06548409 |
| 69 | MP0005551_abnormal_eye_electrophysiolog | 1.05924842 |
| 70 | MP0005389_reproductive_system_phenotype | 1.05440332 |
| 71 | MP0000778_abnormal_nervous_system | 1.04784793 |
| 72 | MP0008995_early_reproductive_senescence | 1.03950942 |
| 73 | MP0000631_abnormal_neuroendocrine_gland | 1.03717772 |
| 74 | MP0005195_abnormal_posterior_eye | 1.03514309 |
| 75 | MP0004742_abnormal_vestibular_system | 1.02383308 |
| 76 | MP0005647_abnormal_sex_gland | 1.01397323 |
| 77 | MP0002064_seizures | 1.01146964 |
| 78 | MP0001501_abnormal_sleep_pattern | 1.00560052 |
| 79 | MP0000026_abnormal_inner_ear | 1.00216540 |
| 80 | MP0003122_maternal_imprinting | 0.99876686 |
| 81 | MP0001963_abnormal_hearing_physiology | 0.99246970 |
| 82 | MP0002229_neurodegeneration | 0.97881132 |
| 83 | MP0002234_abnormal_pharynx_morphology | 0.97413233 |
| 84 | MP0003252_abnormal_bile_duct | 0.96484510 |
| 85 | MP0004381_abnormal_hair_follicle | 0.96398533 |
| 86 | MP0005167_abnormal_blood-brain_barrier | 0.94650476 |
| 87 | MP0002132_abnormal_respiratory_system | 0.94213737 |
| 88 | MP0005379_endocrine/exocrine_gland_phen | 0.93362842 |
| 89 | MP0005623_abnormal_meninges_morphology | 0.92565427 |
| 90 | MP0003283_abnormal_digestive_organ | 0.91962424 |
| 91 | MP0001502_abnormal_circadian_rhythm | 0.91530556 |
| 92 | MP0001440_abnormal_grooming_behavior | 0.89519337 |
| 93 | MP0002909_abnormal_adrenal_gland | 0.89080947 |
| 94 | MP0004142_abnormal_muscle_tone | 0.88871846 |
| 95 | MP0005253_abnormal_eye_physiology | 0.87495643 |
| 96 | MP0003890_abnormal_embryonic-extraembry | 0.86776138 |
| 97 | MP0005075_abnormal_melanosome_morpholog | 0.85006448 |
| 98 | MP0003633_abnormal_nervous_system | 0.83682851 |
| 99 | MP0005423_abnormal_somatic_nervous | 0.81064984 |
| 100 | MP0001905_abnormal_dopamine_level | 0.80713355 |
| 101 | MP0000955_abnormal_spinal_cord | 0.80679489 |
| 102 | MP0002938_white_spotting | 0.80632662 |
| 103 | MP0003183_abnormal_peptide_metabolism | 0.79887190 |
| 104 | MP0005085_abnormal_gallbladder_physiolo | 0.79853517 |
| 105 | MP0002282_abnormal_trachea_morphology | 0.79663506 |
| 106 | MP0000230_abnormal_systemic_arterial | 0.79273484 |
| 107 | MP0002168_other_aberrant_phenotype | 0.77833843 |
| 108 | MP0005174_abnormal_tail_pigmentation | 0.77125586 |
| 109 | MP0002163_abnormal_gland_morphology | 0.76677507 |
| 110 | MP0000049_abnormal_middle_ear | 0.72559645 |
| 111 | MP0002184_abnormal_innervation | 0.72206706 |
| 112 | MP0003941_abnormal_skin_development | 0.70803063 |
| 113 | MP0003786_premature_aging | 0.69612925 |
| 114 | MP0002822_catalepsy | 0.68528152 |
| 115 | MP0004133_heterotaxia | 0.68512788 |
| 116 | MP0001119_abnormal_female_reproductive | 0.66947338 |
| 117 | MP0002095_abnormal_skin_pigmentation | 0.66453469 |
| 118 | MP0004270_analgesia | 0.66424579 |
| 119 | MP0002752_abnormal_somatic_nervous | 0.64464626 |
| 120 | MP0005499_abnormal_olfactory_system | 0.64165552 |
| 121 | MP0005394_taste/olfaction_phenotype | 0.64165552 |
| 122 | MP0000372_irregular_coat_pigmentation | 0.63886246 |
| 123 | MP0004782_abnormal_surfactant_physiolog | 0.61822939 |
| 124 | MP0003879_abnormal_hair_cell | 0.60288992 |
| 125 | MP0005377_hearing/vestibular/ear_phenot | 0.58543918 |
| 126 | MP0003878_abnormal_ear_physiology | 0.58543918 |
| 127 | MP0001324_abnormal_eye_pigmentation | 0.58534453 |
| 128 | MP0008789_abnormal_olfactory_epithelium | 0.57657771 |
| 129 | MP0002882_abnormal_neuron_morphology | 0.57310403 |
| 130 | MP0001970_abnormal_pain_threshold | 0.56562649 |
| 131 | MP0009250_abnormal_appendicular_skeleto | 0.56310660 |
| 132 | MP0000681_abnormal_thyroid_gland | 0.54075755 |
| 133 | MP0001177_atelectasis | 0.53932213 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 8.74014844 |
| 2 | Abnormal respiratory motile cilium morphology (HP:0005938) | 8.10568504 |
| 3 | Abnormal respiratory epithelium morphology (HP:0012253) | 8.10568504 |
| 4 | Abnormal ciliary motility (HP:0012262) | 7.95516823 |
| 5 | Rhinitis (HP:0012384) | 6.92772108 |
| 6 | Chronic bronchitis (HP:0004469) | 5.36325382 |
| 7 | Nephronophthisis (HP:0000090) | 4.23939650 |
| 8 | Infertility (HP:0000789) | 4.21540450 |
| 9 | Bronchiectasis (HP:0002110) | 4.02372436 |
| 10 | Nasal polyposis (HP:0100582) | 3.73948902 |
| 11 | Tubulointerstitial nephritis (HP:0001970) | 3.64449894 |
| 12 | Genetic anticipation (HP:0003743) | 3.53253048 |
| 13 | Medial flaring of the eyebrow (HP:0010747) | 3.50566767 |
| 14 | Abnormality of the renal medulla (HP:0100957) | 3.46511591 |
| 15 | Progressive cerebellar ataxia (HP:0002073) | 3.36415504 |
| 16 | Congenital stationary night blindness (HP:0007642) | 3.34199389 |
| 17 | Abnormality of midbrain morphology (HP:0002418) | 3.23674381 |
| 18 | Molar tooth sign on MRI (HP:0002419) | 3.23674381 |
| 19 | Recurrent sinusitis (HP:0011108) | 3.06417003 |
| 20 | Bronchitis (HP:0012387) | 3.04152228 |
| 21 | True hermaphroditism (HP:0010459) | 3.02678351 |
| 22 | Pancreatic fibrosis (HP:0100732) | 3.01158423 |
| 23 | Attenuation of retinal blood vessels (HP:0007843) | 2.93664499 |
| 24 | Abnormality of the nasal mucosa (HP:0000433) | 2.83435005 |
| 25 | Postaxial foot polydactyly (HP:0001830) | 2.80443781 |
| 26 | Gait imbalance (HP:0002141) | 2.71836841 |
| 27 | Sclerocornea (HP:0000647) | 2.70243190 |
| 28 | Congenital primary aphakia (HP:0007707) | 2.69778123 |
| 29 | Abolished electroretinogram (ERG) (HP:0000550) | 2.68650026 |
| 30 | Type II lissencephaly (HP:0007260) | 2.67692582 |
| 31 | Furrowed tongue (HP:0000221) | 2.64090792 |
| 32 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.60322016 |
| 33 | Nephrogenic diabetes insipidus (HP:0009806) | 2.59227761 |
| 34 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 2.51956923 |
| 35 | Median cleft lip (HP:0000161) | 2.46547632 |
| 36 | Congenital hepatic fibrosis (HP:0002612) | 2.45499536 |
| 37 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.44758025 |
| 38 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 2.36766157 |
| 39 | Tubulointerstitial abnormality (HP:0001969) | 2.33819282 |
| 40 | Broad-based gait (HP:0002136) | 2.33099905 |
| 41 | Focal seizures (HP:0007359) | 2.32101312 |
| 42 | Absent speech (HP:0001344) | 2.27966005 |
| 43 | Protruding tongue (HP:0010808) | 2.26531359 |
| 44 | Keratoconus (HP:0000563) | 2.25555938 |
| 45 | Increased corneal curvature (HP:0100692) | 2.25555938 |
| 46 | Chronic hepatic failure (HP:0100626) | 2.24588526 |
| 47 | Recurrent otitis media (HP:0000403) | 2.24434122 |
| 48 | Large for gestational age (HP:0001520) | 2.21377320 |
| 49 | Chromsome breakage (HP:0040012) | 2.20964264 |
| 50 | Pendular nystagmus (HP:0012043) | 2.18529109 |
| 51 | Chronic sinusitis (HP:0011109) | 2.17891943 |
| 52 | Dialeptic seizures (HP:0011146) | 2.17818949 |
| 53 | Abnormality of the renal cortex (HP:0011035) | 2.17139481 |
| 54 | Clumsiness (HP:0002312) | 2.16552113 |
| 55 | Pancreatic cysts (HP:0001737) | 2.15273358 |
| 56 | Genital tract atresia (HP:0001827) | 2.13438160 |
| 57 | Decreased circulating renin level (HP:0003351) | 2.11883681 |
| 58 | Polyuria (HP:0000103) | 2.11758617 |
| 59 | Cerebellar dysplasia (HP:0007033) | 2.10783353 |
| 60 | Postaxial hand polydactyly (HP:0001162) | 2.09775880 |
| 61 | Poor coordination (HP:0002370) | 2.08698622 |
| 62 | Vaginal atresia (HP:0000148) | 2.08628366 |
| 63 | Inability to walk (HP:0002540) | 2.07768238 |
| 64 | Supernumerary spleens (HP:0009799) | 2.05394861 |
| 65 | Abnormal spermatogenesis (HP:0008669) | 2.05250586 |
| 66 | Febrile seizures (HP:0002373) | 2.04938857 |
| 67 | Lissencephaly (HP:0001339) | 2.04393264 |
| 68 | Facial cleft (HP:0002006) | 2.03550482 |
| 69 | Fair hair (HP:0002286) | 2.01423995 |
| 70 | Congenital sensorineural hearing impairment (HP:0008527) | 2.00278912 |
| 71 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 11.3008515 |
| 72 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 10.4437999 |
| 73 | Absent/shortened dynein arms (HP:0200106) | 10.4437999 |
| 74 | Fibular hypoplasia (HP:0003038) | 1.99922104 |
| 75 | Abnormality of macular pigmentation (HP:0008002) | 1.99117310 |
| 76 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.97826004 |
| 77 | Hemiparesis (HP:0001269) | 1.97594490 |
| 78 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.95578414 |
| 79 | Abnormality of molar (HP:0011077) | 1.95399278 |
| 80 | Abnormality of molar morphology (HP:0011070) | 1.95399278 |
| 81 | Optic nerve hypoplasia (HP:0000609) | 1.94016787 |
| 82 | Occipital encephalocele (HP:0002085) | 1.93388717 |
| 83 | Agitation (HP:0000713) | 1.92494721 |
| 84 | Abnormality of the dental root (HP:0006486) | 1.91843899 |
| 85 | Taurodontia (HP:0000679) | 1.91843899 |
| 86 | Abnormality of permanent molar morphology (HP:0011071) | 1.91843899 |
| 87 | Decreased central vision (HP:0007663) | 1.90790816 |
| 88 | Retinitis pigmentosa (HP:0000510) | 1.90692366 |
| 89 | Cystic liver disease (HP:0006706) | 1.88827813 |
| 90 | Stage 5 chronic kidney disease (HP:0003774) | 1.88497822 |
| 91 | Thyroid-stimulating hormone excess (HP:0002925) | 1.86276528 |
| 92 | Stomach cancer (HP:0012126) | 1.85171685 |
| 93 | Preaxial hand polydactyly (HP:0001177) | 1.85132532 |
| 94 | Abnormality of the dental pulp (HP:0006479) | 1.84630700 |
| 95 | Bile duct proliferation (HP:0001408) | 1.84471382 |
| 96 | Abnormal biliary tract physiology (HP:0012439) | 1.84471382 |
| 97 | Absence seizures (HP:0002121) | 1.83940120 |
| 98 | Male pseudohermaphroditism (HP:0000037) | 1.83178841 |
| 99 | Tubular atrophy (HP:0000092) | 1.83111226 |
| 100 | Progressive inability to walk (HP:0002505) | 1.82959922 |
| 101 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 1.82855356 |
| 102 | Abnormality of alanine metabolism (HP:0010916) | 1.82855356 |
| 103 | Hyperalaninemia (HP:0003348) | 1.82855356 |
| 104 | Widely spaced teeth (HP:0000687) | 1.82198644 |
| 105 | Male infertility (HP:0003251) | 1.78123701 |
| 106 | Renal dysplasia (HP:0000110) | 1.74479927 |
| 107 | Drooling (HP:0002307) | 1.74454260 |
| 108 | Bell-shaped thorax (HP:0001591) | 1.72791894 |
| 109 | Narrow forehead (HP:0000341) | 1.72660117 |
| 110 | Severe visual impairment (HP:0001141) | 1.72100828 |
| 111 | Short foot (HP:0001773) | 1.69799706 |
| 112 | Specific learning disability (HP:0001328) | 1.69509642 |
| 113 | Highly arched eyebrow (HP:0002553) | 1.69206542 |
| 114 | Constricted visual fields (HP:0001133) | 1.68063624 |
| 115 | Hyperventilation (HP:0002883) | 1.63752297 |
| 116 | Astigmatism (HP:0000483) | 1.62682737 |
| 117 | Dyschromatopsia (HP:0007641) | 1.62597434 |
| 118 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.60743173 |
| 119 | Focal motor seizures (HP:0011153) | 1.59565967 |
| 120 | Nephropathy (HP:0000112) | 1.59361795 |
| 121 | Azoospermia (HP:0000027) | 1.59257599 |
| 122 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.59163976 |
| 123 | Oculomotor apraxia (HP:0000657) | 1.57653298 |
| 124 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.56468886 |
| 125 | Nephroblastoma (Wilms tumor) (HP:0002667) | 1.56086459 |
| 126 | Aganglionic megacolon (HP:0002251) | 1.53410948 |
| 127 | Polydipsia (HP:0001959) | 1.52760044 |
| 128 | Abnormal drinking behavior (HP:0030082) | 1.52760044 |
| 129 | Optic neuritis (HP:0100653) | 1.51531241 |
| 130 | Retrobulbar optic neuritis (HP:0100654) | 1.51531241 |
| 131 | Gonadotropin excess (HP:0000837) | 1.50932223 |
| 132 | Hypothermia (HP:0002045) | 1.50390104 |
| 133 | Embryonal renal neoplasm (HP:0011794) | 1.50179373 |
| 134 | Abnormal hair whorl (HP:0010721) | 1.49715283 |
| 135 | Recurrent bronchitis (HP:0002837) | 1.49370125 |
| 136 | Epileptic encephalopathy (HP:0200134) | 1.48489346 |
| 137 | Ectopic kidney (HP:0000086) | 1.46314709 |
| 138 | Gaze-evoked nystagmus (HP:0000640) | 1.45266789 |
| 139 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.43543804 |
| 140 | Renal cortical cysts (HP:0000803) | 1.43018326 |
| 141 | Abnormality of dentin (HP:0010299) | 1.41526714 |
| 142 | Duplicated collecting system (HP:0000081) | 1.40063728 |
| 143 | Short thorax (HP:0010306) | 1.39686966 |
| 144 | Anencephaly (HP:0002323) | 1.38456965 |
| 145 | Clubbing of toes (HP:0100760) | 1.38407490 |
| 146 | Abnormality of the renal collecting system (HP:0004742) | 1.37332342 |
| 147 | Meckel diverticulum (HP:0002245) | 1.37264658 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK3 | 6.00949591 |
| 2 | PDK4 | 6.00949591 |
| 3 | PDK2 | 4.16294038 |
| 4 | CASK | 3.79195827 |
| 5 | TNIK | 2.88093840 |
| 6 | ACVR1B | 2.45473888 |
| 7 | MAP2K7 | 2.31680610 |
| 8 | MAP4K2 | 2.25044073 |
| 9 | PRKD3 | 2.19337619 |
| 10 | TAOK3 | 2.08619935 |
| 11 | NTRK3 | 1.72681352 |
| 12 | BMPR1B | 1.71333210 |
| 13 | STK16 | 1.70343574 |
| 14 | TESK1 | 1.68726033 |
| 15 | MAPK15 | 1.65111769 |
| 16 | PTK2B | 1.64807098 |
| 17 | MAPK13 | 1.63982367 |
| 18 | INSRR | 1.63756657 |
| 19 | OXSR1 | 1.61894881 |
| 20 | PNCK | 1.55085892 |
| 21 | EPHA4 | 1.49877522 |
| 22 | YES1 | 1.48225725 |
| 23 | IRAK1 | 1.46388477 |
| 24 | MKNK2 | 1.43555085 |
| 25 | TLK1 | 1.38620525 |
| 26 | BMPR2 | 1.35583920 |
| 27 | WNK4 | 1.33901035 |
| 28 | STK39 | 1.33658034 |
| 29 | TXK | 1.33064589 |
| 30 | MAP3K14 | 1.32135666 |
| 31 | PRPF4B | 1.31855565 |
| 32 | ADRBK2 | 1.31827072 |
| 33 | ZAK | 1.27039433 |
| 34 | AKT3 | 1.23209398 |
| 35 | DAPK2 | 1.21954712 |
| 36 | PAK3 | 1.21017240 |
| 37 | NEK6 | 1.18076065 |
| 38 | CCNB1 | 1.14719053 |
| 39 | EIF2AK2 | 1.13717736 |
| 40 | MAP3K4 | 1.12882623 |
| 41 | FGFR2 | 1.10116707 |
| 42 | GRK1 | 1.08921847 |
| 43 | NTRK2 | 1.06934044 |
| 44 | RIPK4 | 1.02908356 |
| 45 | SGK2 | 0.99648418 |
| 46 | SIK3 | 0.97904619 |
| 47 | WNK1 | 0.96325463 |
| 48 | PINK1 | 0.93838687 |
| 49 | ERBB3 | 0.92443251 |
| 50 | CDK3 | 0.91450801 |
| 51 | CAMKK2 | 0.89894838 |
| 52 | ICK | 0.88090699 |
| 53 | SIK2 | 0.87880188 |
| 54 | MARK1 | 0.87182878 |
| 55 | IRAK2 | 0.85479263 |
| 56 | MUSK | 0.83385986 |
| 57 | STK38L | 0.82215189 |
| 58 | LATS1 | 0.80823553 |
| 59 | PLK2 | 0.78748798 |
| 60 | BLK | 0.77900902 |
| 61 | IRAK3 | 0.77329926 |
| 62 | WNK3 | 0.74734912 |
| 63 | GRK7 | 0.74522117 |
| 64 | PLK4 | 0.74154385 |
| 65 | PIK3CA | 0.73896444 |
| 66 | TRIM28 | 0.73548333 |
| 67 | TGFBR1 | 0.73131071 |
| 68 | IRAK4 | 0.73063219 |
| 69 | STK3 | 0.72569676 |
| 70 | PRKCG | 0.71758894 |
| 71 | PIK3CG | 0.70720839 |
| 72 | EPHA3 | 0.65906890 |
| 73 | MAP3K7 | 0.65164645 |
| 74 | SRPK1 | 0.65119101 |
| 75 | PHKG2 | 0.64944508 |
| 76 | PHKG1 | 0.64944508 |
| 77 | CDK19 | 0.62198179 |
| 78 | FER | 0.59880017 |
| 79 | STK11 | 0.58687950 |
| 80 | CAMK1 | 0.57201599 |
| 81 | MAPKAPK3 | 0.57183564 |
| 82 | SGK223 | 0.57181533 |
| 83 | SGK494 | 0.57181533 |
| 84 | MKNK1 | 0.56246623 |
| 85 | ERBB2 | 0.55913019 |
| 86 | TIE1 | 0.55439687 |
| 87 | CSNK1G2 | 0.55242250 |
| 88 | PKN1 | 0.54755179 |
| 89 | BRD4 | 0.54039627 |
| 90 | MST4 | 0.53109375 |
| 91 | CSNK1A1L | 0.53079336 |
| 92 | STK38 | 0.52604639 |
| 93 | CDK8 | 0.52420935 |
| 94 | PRKAA2 | 0.51340225 |
| 95 | CHEK2 | 0.50891419 |
| 96 | RPS6KB1 | 0.50434961 |
| 97 | PRKCE | 0.50279870 |
| 98 | BRSK2 | 0.50117476 |
| 99 | ITK | 0.48254368 |
| 100 | FRK | 0.47754673 |
| 101 | CAMK2A | 0.47516660 |
| 102 | BRAF | 0.46649356 |
| 103 | TNK2 | 0.45758480 |
| 104 | CSNK1G1 | 0.45340286 |
| 105 | ATR | 0.43976768 |
| 106 | PDK1 | 0.43941743 |
| 107 | PRKAA1 | 0.42579167 |
| 108 | VRK1 | 0.42054025 |
| 109 | PRKCZ | 0.41258902 |
| 110 | IKBKB | 0.40977521 |
| 111 | CHUK | 0.40584017 |
| 112 | BCR | 0.40506947 |
| 113 | CSNK1G3 | 0.39508371 |
| 114 | ATM | 0.39218542 |
| 115 | CAMK4 | 0.39162750 |
| 116 | TRPM7 | 0.37931913 |
| 117 | MAP3K12 | 0.37758781 |
| 118 | KIT | 0.37443598 |
| 119 | DYRK1A | 0.36803065 |
| 120 | MAP2K4 | 0.36165120 |
| 121 | RPS6KA5 | 0.35845323 |
| 122 | SGK1 | 0.35430634 |
| 123 | BCKDK | 0.35388043 |
| 124 | CLK1 | 0.35306174 |
| 125 | DYRK3 | 0.34774263 |
| 126 | CSNK1A1 | 0.34356716 |
| 127 | DYRK2 | 0.33249364 |
| 128 | PRKG1 | 0.33172702 |
| 129 | NUAK1 | 0.32661970 |
| 130 | SGK3 | 0.32451986 |
| 131 | MAP2K6 | 0.30861162 |
| 132 | PRKCQ | 0.28810575 |
| 133 | TEC | 0.28333483 |
| 134 | NLK | 0.28010415 |
| 135 | OBSCN | 0.25785129 |
| 136 | PRKACA | 0.25334247 |
| 137 | MARK2 | 0.22991449 |
| 138 | FES | 0.20994405 |
| 139 | ADRBK1 | 0.20967699 |
| 140 | PLK3 | 0.20195974 |
| 141 | CAMK2B | 0.19737742 |
| 142 | MAPK7 | 0.19470574 |
| 143 | PASK | 0.19247177 |
| 144 | STK24 | 0.17712627 |
| 145 | GRK5 | 0.17390925 |
| 146 | MAPKAPK5 | 0.16449153 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Nicotine addiction_Homo sapiens_hsa05033 | 3.15419418 |
| 2 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 3.11752565 |
| 3 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.63960277 |
| 4 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 2.53556692 |
| 5 | Basal transcription factors_Homo sapiens_hsa03022 | 2.43869653 |
| 6 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 2.39143377 |
| 7 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.21631080 |
| 8 | Taste transduction_Homo sapiens_hsa04742 | 2.20490081 |
| 9 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 2.09285995 |
| 10 | Amphetamine addiction_Homo sapiens_hsa05031 | 2.07174365 |
| 11 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 2.00539123 |
| 12 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.93434657 |
| 13 | Olfactory transduction_Homo sapiens_hsa04740 | 1.90892611 |
| 14 | Morphine addiction_Homo sapiens_hsa05032 | 1.75438316 |
| 15 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.74946599 |
| 16 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.73418526 |
| 17 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.66984966 |
| 18 | Circadian entrainment_Homo sapiens_hsa04713 | 1.66202379 |
| 19 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 1.65170143 |
| 20 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.61873373 |
| 21 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.61148485 |
| 22 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.60635982 |
| 23 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.58959441 |
| 24 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.57740598 |
| 25 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.57015553 |
| 26 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.54501478 |
| 27 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.51662926 |
| 28 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.50598060 |
| 29 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.50444070 |
| 30 | Phototransduction_Homo sapiens_hsa04744 | 1.48237874 |
| 31 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.47086657 |
| 32 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.45849769 |
| 33 | Huntingtons disease_Homo sapiens_hsa05016 | 1.42443313 |
| 34 | Homologous recombination_Homo sapiens_hsa03440 | 1.41715608 |
| 35 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.39578397 |
| 36 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 1.38599046 |
| 37 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.38216828 |
| 38 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.36754916 |
| 39 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.36574081 |
| 40 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.35858331 |
| 41 | Insulin secretion_Homo sapiens_hsa04911 | 1.31558422 |
| 42 | Renin secretion_Homo sapiens_hsa04924 | 1.30825872 |
| 43 | Purine metabolism_Homo sapiens_hsa00230 | 1.29473066 |
| 44 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.25999394 |
| 45 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 1.24816698 |
| 46 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 1.22918709 |
| 47 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.19391525 |
| 48 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 1.14006380 |
| 49 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.13443423 |
| 50 | Retinol metabolism_Homo sapiens_hsa00830 | 1.11765766 |
| 51 | Long-term potentiation_Homo sapiens_hsa04720 | 1.11600127 |
| 52 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.10893703 |
| 53 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.10642320 |
| 54 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.09681359 |
| 55 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.09612641 |
| 56 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 1.09483449 |
| 57 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.08845519 |
| 58 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.07394012 |
| 59 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.07050074 |
| 60 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.06242195 |
| 61 | Histidine metabolism_Homo sapiens_hsa00340 | 1.06127226 |
| 62 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.05992563 |
| 63 | Peroxisome_Homo sapiens_hsa04146 | 1.05456501 |
| 64 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.02619396 |
| 65 | Mineral absorption_Homo sapiens_hsa04978 | 1.01034780 |
| 66 | Salivary secretion_Homo sapiens_hsa04970 | 0.98295686 |
| 67 | RNA polymerase_Homo sapiens_hsa03020 | 0.98277690 |
| 68 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.96231792 |
| 69 | Asthma_Homo sapiens_hsa05310 | 0.93652530 |
| 70 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.91962118 |
| 71 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.90826939 |
| 72 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.89987961 |
| 73 | Protein export_Homo sapiens_hsa03060 | 0.89346641 |
| 74 | Allograft rejection_Homo sapiens_hsa05330 | 0.89226581 |
| 75 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.87544249 |
| 76 | Long-term depression_Homo sapiens_hsa04730 | 0.87230655 |
| 77 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.86441212 |
| 78 | GABAergic synapse_Homo sapiens_hsa04727 | 0.85858595 |
| 79 | Cocaine addiction_Homo sapiens_hsa05030 | 0.85337158 |
| 80 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.85208778 |
| 81 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.85197773 |
| 82 | Phagosome_Homo sapiens_hsa04145 | 0.83659117 |
| 83 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.82788679 |
| 84 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.82487156 |
| 85 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.81129077 |
| 86 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.76724559 |
| 87 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.73008259 |
| 88 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.72627510 |
| 89 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.69886649 |
| 90 | RNA degradation_Homo sapiens_hsa03018 | 0.68609466 |
| 91 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.67669600 |
| 92 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.65350638 |
| 93 | Axon guidance_Homo sapiens_hsa04360 | 0.62233405 |
| 94 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.62040226 |
| 95 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.60708441 |
| 96 | Measles_Homo sapiens_hsa05162 | 0.60030196 |
| 97 | Parkinsons disease_Homo sapiens_hsa05012 | 0.59876126 |
| 98 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.59095122 |
| 99 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.58891491 |
| 100 | Vibrio cholerae infection_Homo sapiens_hsa05110 | 0.58674290 |
| 101 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.57385226 |
| 102 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.57339870 |
| 103 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.53750377 |
| 104 | Other glycan degradation_Homo sapiens_hsa00511 | 0.53655529 |
| 105 | Legionellosis_Homo sapiens_hsa05134 | 0.52142305 |
| 106 | ABC transporters_Homo sapiens_hsa02010 | 0.51689948 |
| 107 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.51186181 |
| 108 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.50664972 |
| 109 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.50375847 |
| 110 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.49362357 |
| 111 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.48896179 |
| 112 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.47755685 |
| 113 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.47568103 |
| 114 | Alzheimers disease_Homo sapiens_hsa05010 | 0.47260612 |
| 115 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.46412263 |
| 116 | Circadian rhythm_Homo sapiens_hsa04710 | 0.45272773 |
| 117 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.45005626 |
| 118 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.44092089 |
| 119 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.42864123 |
| 120 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.42785145 |
| 121 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.41963036 |
| 122 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.41923818 |
| 123 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.41703303 |
| 124 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.41303959 |
| 125 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.41150427 |
| 126 | Metabolic pathways_Homo sapiens_hsa01100 | 0.39402901 |
| 127 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.39155524 |
| 128 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.38519273 |
| 129 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.38364179 |
| 130 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.37795058 |
| 131 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.36755871 |
| 132 | Lysine degradation_Homo sapiens_hsa00310 | 0.36745651 |
| 133 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.32249221 |
| 134 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.31658739 |
| 135 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.31493282 |

