

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | motile cilium assembly (GO:0044458) | 9.77675174 |
| 2 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 9.36414864 |
| 3 | multicellular organism reproduction (GO:0032504) | 9.28651751 |
| 4 | acrosome assembly (GO:0001675) | 8.84477854 |
| 5 | sperm-egg recognition (GO:0035036) | 8.83250868 |
| 6 | piRNA metabolic process (GO:0034587) | 8.53993922 |
| 7 | cell wall macromolecule catabolic process (GO:0016998) | 8.34339443 |
| 8 | cell wall macromolecule metabolic process (GO:0044036) | 8.34339443 |
| 9 | plasma membrane fusion (GO:0045026) | 8.21022623 |
| 10 | acrosome reaction (GO:0007340) | 8.20382654 |
| 11 | binding of sperm to zona pellucida (GO:0007339) | 8.06668510 |
| 12 | cell-cell recognition (GO:0009988) | 7.80688267 |
| 13 | male meiosis (GO:0007140) | 7.69469516 |
| 14 | spermatid development (GO:0007286) | 7.46977886 |
| 15 | reproduction (GO:0000003) | 7.42061653 |
| 16 | ventricular system development (GO:0021591) | 7.24674021 |
| 17 | single fertilization (GO:0007338) | 6.74167641 |
| 18 | regulation of cilium movement (GO:0003352) | 6.70925854 |
| 19 | synaptonemal complex organization (GO:0070193) | 6.63443077 |
| 20 | axoneme assembly (GO:0035082) | 6.26978789 |
| 21 | synaptonemal complex assembly (GO:0007130) | 6.15271476 |
| 22 | DNA methylation involved in gamete generation (GO:0043046) | 5.95732514 |
| 23 | fertilization (GO:0009566) | 5.67343152 |
| 24 | male meiosis I (GO:0007141) | 5.61367891 |
| 25 | intraciliary transport (GO:0042073) | 5.46739267 |
| 26 | sperm capacitation (GO:0048240) | 5.34554331 |
| 27 | microtubule depolymerization (GO:0007019) | 5.17545799 |
| 28 | GTP biosynthetic process (GO:0006183) | 5.16820104 |
| 29 | protein localization to cilium (GO:0061512) | 5.16782043 |
| 30 | left/right axis specification (GO:0070986) | 5.13823658 |
| 31 | * spermatogenesis (GO:0007283) | 5.09993323 |
| 32 | * male gamete generation (GO:0048232) | 5.08111053 |
| 33 | negative regulation of inclusion body assembly (GO:0090084) | 4.97320620 |
| 34 | * gamete generation (GO:0007276) | 4.75865157 |
| 35 | * cilium organization (GO:0044782) | 4.63705204 |
| 36 | nucleoside diphosphate phosphorylation (GO:0006165) | 4.61122015 |
| 37 | chromosome organization involved in meiosis (GO:0070192) | 4.52355525 |
| 38 | UTP biosynthetic process (GO:0006228) | 4.47350626 |
| 39 | * cilium assembly (GO:0042384) | 4.47115886 |
| 40 | meiosis I (GO:0007127) | 4.45868769 |
| 41 | meiotic cell cycle (GO:0051321) | 4.36723922 |
| 42 | germ cell development (GO:0007281) | 4.32868527 |
| 43 | meiotic nuclear division (GO:0007126) | 4.31188043 |
| 44 | microtubule severing (GO:0051013) | 4.30373557 |
| 45 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.27774286 |
| 46 | cell recognition (GO:0008037) | 4.12758527 |
| 47 | regulation of inclusion body assembly (GO:0090083) | 4.10889529 |
| 48 | calcium ion-dependent exocytosis (GO:0017156) | 4.10662432 |
| 49 | cilium morphogenesis (GO:0060271) | 4.07535580 |
| 50 | left/right pattern formation (GO:0060972) | 4.02686202 |
| 51 | UTP metabolic process (GO:0046051) | 3.94195837 |
| 52 | * cellular component assembly involved in morphogenesis (GO:0010927) | 3.92046536 |
| 53 | organic cation transport (GO:0015695) | 3.87233238 |
| 54 | protein polyglutamylation (GO:0018095) | 3.86250661 |
| 55 | centriole assembly (GO:0098534) | 3.83154899 |
| 56 | microtubule-based movement (GO:0007018) | 3.82584451 |
| 57 | nonmotile primary cilium assembly (GO:0035058) | 3.75931698 |
| 58 | * multicellular organismal reproductive process (GO:0048609) | 3.71815271 |
| 59 | regulation of microtubule-based movement (GO:0060632) | 3.69231366 |
| 60 | regulation of meiosis I (GO:0060631) | 3.55994387 |
| 61 | guanosine-containing compound biosynthetic process (GO:1901070) | 3.42513684 |
| 62 | spermatid nucleus differentiation (GO:0007289) | 3.37530749 |
| 63 | seminiferous tubule development (GO:0072520) | 3.31600804 |
| 64 | centriole replication (GO:0007099) | 3.30611465 |
| 65 | CTP metabolic process (GO:0046036) | 3.28803492 |
| 66 | CTP biosynthetic process (GO:0006241) | 3.28803492 |
| 67 | monoubiquitinated protein deubiquitination (GO:0035520) | 3.18084610 |
| 68 | water-soluble vitamin biosynthetic process (GO:0042364) | 3.10472372 |
| 69 | presynaptic membrane assembly (GO:0097105) | 3.08785160 |
| 70 | negative regulation of cytosolic calcium ion concentration (GO:0051481) | 3.08169169 |
| 71 | microtubule bundle formation (GO:0001578) | 3.07450751 |
| 72 | synapsis (GO:0007129) | 3.06710720 |
| 73 | response to pheromone (GO:0019236) | 3.05259901 |
| 74 | cellular ketone body metabolic process (GO:0046950) | 3.02222459 |
| 75 | meiotic cell cycle process (GO:1903046) | 3.01869488 |
| 76 | multicellular organismal development (GO:0007275) | 2.97878542 |
| 77 | pyrimidine nucleoside triphosphate biosynthetic process (GO:0009148) | 2.96609344 |
| 78 | pyrimidine ribonucleoside triphosphate biosynthetic process (GO:0009209) | 2.90393649 |
| 79 | photoreceptor cell maintenance (GO:0045494) | 2.89809431 |
| 80 | genitalia morphogenesis (GO:0035112) | 2.89802893 |
| 81 | pyrimidine nucleobase catabolic process (GO:0006208) | 2.87200767 |
| 82 | behavioral response to nicotine (GO:0035095) | 2.86416876 |
| 83 | * cell projection assembly (GO:0030031) | 2.84754617 |
| 84 | protein K11-linked deubiquitination (GO:0035871) | 2.83895592 |
| 85 | platelet dense granule organization (GO:0060155) | 2.83384937 |
| 86 | presynaptic membrane organization (GO:0097090) | 2.83246409 |
| 87 | lactate metabolic process (GO:0006089) | 2.80619849 |
| 88 | microtubule polymerization or depolymerization (GO:0031109) | 2.78281357 |
| 89 | retinal ganglion cell axon guidance (GO:0031290) | 2.70709120 |
| 90 | dendritic spine morphogenesis (GO:0060997) | 2.68500419 |
| 91 | protein complex biogenesis (GO:0070271) | 2.67549279 |
| 92 | ketone body metabolic process (GO:1902224) | 2.64223985 |
| 93 | gene silencing by RNA (GO:0031047) | 2.62938002 |
| 94 | determination of left/right symmetry (GO:0007368) | 2.61136921 |
| 95 | mitochondrial electron transport, NADH to ubiquinone (GO:0006120) | 2.60936298 |
| 96 | glycerol ether metabolic process (GO:0006662) | 2.60808761 |
| 97 | pyrimidine ribonucleoside triphosphate metabolic process (GO:0009208) | 2.60337368 |
| 98 | C4-dicarboxylate transport (GO:0015740) | 2.59778483 |
| 99 | regulation of hexokinase activity (GO:1903299) | 2.59119181 |
| 100 | regulation of glucokinase activity (GO:0033131) | 2.59119181 |
| 101 | smoothened signaling pathway (GO:0007224) | 2.57875712 |
| 102 | nucleobase catabolic process (GO:0046113) | 2.57071791 |
| 103 | * organelle assembly (GO:0070925) | 2.56772190 |
| 104 | positive regulation of mitochondrial fission (GO:0090141) | 2.56157754 |
| 105 | nucleotide phosphorylation (GO:0046939) | 2.54545355 |
| 106 | DNA double-strand break processing (GO:0000729) | 2.53154821 |
| 107 | detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) | 2.51834026 |
| 108 | respiratory chain complex IV assembly (GO:0008535) | 2.51645985 |
| 109 | determination of bilateral symmetry (GO:0009855) | 2.50388779 |
| 110 | regulation of acrosome reaction (GO:0060046) | 2.49575754 |
| 111 | L-fucose catabolic process (GO:0042355) | 2.48216151 |
| 112 | fucose catabolic process (GO:0019317) | 2.48216151 |
| 113 | L-fucose metabolic process (GO:0042354) | 2.48216151 |
| 114 | positive regulation of meiosis (GO:0045836) | 2.47899706 |
| 115 | pyrimidine nucleoside triphosphate metabolic process (GO:0009147) | 2.47806579 |
| 116 | regulation of spindle checkpoint (GO:0090231) | 2.47608500 |
| 117 | branched-chain amino acid catabolic process (GO:0009083) | 2.46628822 |
| 118 | regulation of centriole replication (GO:0046599) | 2.46396026 |
| 119 | cellular response to gamma radiation (GO:0071480) | 2.45907992 |
| 120 | retinal cone cell development (GO:0046549) | 2.45196201 |
| 121 | mitochondrial respiratory chain complex assembly (GO:0033108) | 2.45003174 |
| 122 | auditory behavior (GO:0031223) | 2.44988340 |
| 123 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 2.44814294 |
| 124 | NADH dehydrogenase complex assembly (GO:0010257) | 2.44814294 |
| 125 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 2.44814294 |
| 126 | calcium ion import (GO:0070509) | 2.44708934 |
| 127 | specification of symmetry (GO:0009799) | 2.44637572 |
| 128 | negative regulation of organelle assembly (GO:1902116) | 2.44014070 |
| 129 | nucleoside diphosphate metabolic process (GO:0009132) | 2.43380785 |
| 130 | mannosylation (GO:0097502) | 2.43126382 |
| 131 | neuron fate determination (GO:0048664) | 2.42614433 |
| 132 | ether metabolic process (GO:0018904) | 2.41180844 |
| 133 | positive regulation of meiotic cell cycle (GO:0051446) | 2.40723282 |
| 134 | preassembly of GPI anchor in ER membrane (GO:0016254) | 2.40154332 |
| 135 | limb development (GO:0060173) | 2.39342000 |
| 136 | appendage development (GO:0048736) | 2.39342000 |
| 137 | brain morphogenesis (GO:0048854) | 2.37626957 |
| 138 | cornea development in camera-type eye (GO:0061303) | 2.35213040 |
| 139 | regulation of neurotransmitter uptake (GO:0051580) | 2.34530054 |
| 140 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 2.32859616 |
| 141 | mechanosensory behavior (GO:0007638) | 2.32297676 |
| 142 | GPI anchor metabolic process (GO:0006505) | 2.31344996 |
| 143 | negative regulation of transcription regulatory region DNA binding (GO:2000678) | 2.30662745 |
| 144 | vascular smooth muscle contraction (GO:0014829) | 2.30051951 |
| 145 | inositol phosphate catabolic process (GO:0071545) | 2.29617807 |
| 146 | transmission of nerve impulse (GO:0019226) | 2.29088871 |
| 147 | aldehyde catabolic process (GO:0046185) | 2.25671655 |
| 148 | cytochrome complex assembly (GO:0017004) | 2.24296946 |
| 149 | neural tube formation (GO:0001841) | 2.24051305 |
| 150 | retinal rod cell development (GO:0046548) | 2.23716801 |
| 151 | somite development (GO:0061053) | 2.23563357 |
| 152 | inner ear receptor stereocilium organization (GO:0060122) | 2.23161686 |
| 153 | histone H2A acetylation (GO:0043968) | 2.22839144 |
| 154 | photoreceptor cell development (GO:0042461) | 2.22382427 |
| 155 | gamma-aminobutyric acid transport (GO:0015812) | 2.19820337 |
| 156 | tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388) | 2.18970756 |
| 157 | RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394) | 2.18970756 |
| 158 | postsynaptic membrane organization (GO:0001941) | 2.18031919 |
| 159 | response to nitrosative stress (GO:0051409) | 2.17254626 |
| 160 | calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules (GO:0016339) | 2.17003019 |
| 161 | lateral ventricle development (GO:0021670) | 2.16627815 |
| 162 | axonal fasciculation (GO:0007413) | 2.16262458 |
| 163 | spinal cord motor neuron differentiation (GO:0021522) | 2.15796066 |
| 164 | negative regulation of astrocyte differentiation (GO:0048712) | 2.14168778 |
| 165 | establishment of protein localization to Golgi (GO:0072600) | 2.13862668 |
| 166 | cilium or flagellum-dependent cell motility (GO:0001539) | 14.0534327 |
| 167 | axonemal dynein complex assembly (GO:0070286) | 12.2699876 |
| 168 | cilium movement (GO:0003341) | 11.2082782 |
| 169 | epithelial cilium movement (GO:0003351) | 11.1178653 |
| 170 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.6668407 |
| 171 | sperm motility (GO:0030317) | 10.0080471 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 5.43248789 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 5.03248792 |
| 3 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.06093368 |
| 4 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 3.27925216 |
| 5 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.66315445 |
| 6 | * FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.51735473 |
| 7 | * PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.50994435 |
| 8 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 2.45042293 |
| 9 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.39058229 |
| 10 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.35552850 |
| 11 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.35515085 |
| 12 | * ZFP57_27257070_Chip-Seq_ESCs_Mouse | 2.29174061 |
| 13 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.24243115 |
| 14 | * CBX2_27304074_Chip-Seq_ESCs_Mouse | 2.14273390 |
| 15 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 2.13014496 |
| 16 | EWS_26573619_Chip-Seq_HEK293_Human | 2.11032566 |
| 17 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 2.09804404 |
| 18 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.05765179 |
| 19 | VDR_22108803_ChIP-Seq_LS180_Human | 2.03567412 |
| 20 | * PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.96054782 |
| 21 | * SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.95962364 |
| 22 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.95641554 |
| 23 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.95536225 |
| 24 | * NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.92523779 |
| 25 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.86920579 |
| 26 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.83650687 |
| 27 | * TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.82450608 |
| 28 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.81462679 |
| 29 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.79312835 |
| 30 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.77941963 |
| 31 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.77233293 |
| 32 | * NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.69171794 |
| 33 | * EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.68987530 |
| 34 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.68434142 |
| 35 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.66144267 |
| 36 | * SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.63489122 |
| 37 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.62721737 |
| 38 | * P53_22387025_ChIP-Seq_ESCs_Mouse | 1.57101234 |
| 39 | * EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.55313369 |
| 40 | FUS_26573619_Chip-Seq_HEK293_Human | 1.51818720 |
| 41 | KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.50960108 |
| 42 | * NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.50816652 |
| 43 | KDM2B_26808549_Chip-Seq_REH_Human | 1.49851853 |
| 44 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 1.49735829 |
| 45 | * SMAD4_21799915_ChIP-Seq_A2780_Human | 1.48209664 |
| 46 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 1.47907089 |
| 47 | * SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.47568781 |
| 48 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.47562717 |
| 49 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.47562717 |
| 50 | * STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.47092624 |
| 51 | * EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.46577899 |
| 52 | * SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.46291921 |
| 53 | AR_25329375_ChIP-Seq_VCAP_Human | 1.46250134 |
| 54 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.46082927 |
| 55 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.45584918 |
| 56 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.45470011 |
| 57 | * OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.44968946 |
| 58 | * CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.44839057 |
| 59 | * RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.44809666 |
| 60 | * E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.43090290 |
| 61 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.43046243 |
| 62 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.42771165 |
| 63 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.42699652 |
| 64 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.40435902 |
| 65 | * P300_18555785_Chip-Seq_ESCs_Mouse | 1.38698965 |
| 66 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.35118470 |
| 67 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.34923549 |
| 68 | * CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.34078103 |
| 69 | * SOX2_18555785_Chip-Seq_ESCs_Mouse | 1.33645517 |
| 70 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.33280936 |
| 71 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.33074465 |
| 72 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.32999656 |
| 73 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.32719060 |
| 74 | * P300_19829295_ChIP-Seq_ESCs_Human | 1.31391373 |
| 75 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.30995702 |
| 76 | * KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.30590673 |
| 77 | * RUNX1_27457419_Chip-Seq_LIVER_Mouse | 1.30210408 |
| 78 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.29943434 |
| 79 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.29943434 |
| 80 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.28828340 |
| 81 | * CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.28312224 |
| 82 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.28136207 |
| 83 | * ESRRB_18555785_Chip-Seq_ESCs_Mouse | 1.27588233 |
| 84 | * ZFX_18555785_Chip-Seq_ESCs_Mouse | 1.27037875 |
| 85 | * RUNX2_22187159_ChIP-Seq_PCA_Human | 1.26866887 |
| 86 | * TCF4_22108803_ChIP-Seq_LS180_Human | 1.26846218 |
| 87 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.26442138 |
| 88 | * NMYC_18555785_Chip-Seq_ESCs_Mouse | 1.26414126 |
| 89 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.26098944 |
| 90 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.26042662 |
| 91 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.26042662 |
| 92 | * TCF4_23295773_ChIP-Seq_U87_Human | 1.24033859 |
| 93 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.24031967 |
| 94 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.24029751 |
| 95 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.22867040 |
| 96 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.22654084 |
| 97 | * OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.22355201 |
| 98 | * AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.20897645 |
| 99 | CTCF_18555785_Chip-Seq_ESCs_Mouse | 1.20660881 |
| 100 | * PU1_27457419_Chip-Seq_LIVER_Mouse | 1.19533426 |
| 101 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.19245002 |
| 102 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.18700124 |
| 103 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.17459422 |
| 104 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.16905943 |
| 105 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.14763164 |
| 106 | * SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.13931603 |
| 107 | * STAT3_23295773_ChIP-Seq_U87_Human | 1.13723638 |
| 108 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.11621884 |
| 109 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 1.10791643 |
| 110 | * SMAD1_18555785_Chip-Seq_ESCs_Mouse | 1.09052750 |
| 111 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.08689243 |
| 112 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.08689243 |
| 113 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.07593435 |
| 114 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.06686935 |
| 115 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.06313477 |
| 116 | TBL1_22424771_ChIP-Seq_293T_Human | 1.05599327 |
| 117 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.05181320 |
| 118 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.03925359 |
| 119 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.03442800 |
| 120 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.03172788 |
| 121 | LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.03049266 |
| 122 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.01381616 |
| 123 | FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse | 1.00907907 |
| 124 | JUN_21703547_ChIP-Seq_K562_Human | 1.00677665 |
| 125 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.00670746 |
| 126 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 0.99760013 |
| 127 | CDX2_22108803_ChIP-Seq_LS180_Human | 0.99708420 |
| 128 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 0.98645078 |
| 129 | NFYB_21822215_ChIP-Seq_K562_Human | 0.98445876 |
| 130 | IRF1_19129219_ChIP-ChIP_H3396_Human | 0.98242306 |
| 131 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 0.97968200 |
| 132 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.97957240 |
| 133 | TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 0.97164341 |
| 134 | CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons | 0.95916945 |
| 135 | * SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse | 0.95281460 |
| 136 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 0.94914992 |
| 137 | AR_20517297_ChIP-Seq_VCAP_Human | 0.94758449 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | * MP0003698_abnormal_male_reproductive | 4.62942148 |
| 2 | MP0008877_abnormal_DNA_methylation | 4.29560613 |
| 3 | * MP0001929_abnormal_gametogenesis | 4.22385889 |
| 4 | MP0002653_abnormal_ependyma_morphology | 3.87231118 |
| 5 | MP0001984_abnormal_olfaction | 3.39359210 |
| 6 | * MP0002210_abnormal_sex_determination | 3.09825689 |
| 7 | MP0008004_abnormal_stomach_pH | 2.67769584 |
| 8 | MP0003136_yellow_coat_color | 2.60191095 |
| 9 | * MP0002161_abnormal_fertility/fecundity | 2.49287747 |
| 10 | * MP0001145_abnormal_male_reproductive | 2.43432318 |
| 11 | * MP0000653_abnormal_sex_gland | 2.25067236 |
| 12 | MP0003122_maternal_imprinting | 2.13429200 |
| 13 | MP0000566_synostosis | 2.12980664 |
| 14 | MP0001529_abnormal_vocalization | 2.08426443 |
| 15 | MP0005646_abnormal_pituitary_gland | 2.07158484 |
| 16 | MP0005410_abnormal_fertilization | 10.8340461 |
| 17 | MP0005623_abnormal_meninges_morphology | 1.95938942 |
| 18 | MP0009046_muscle_twitch | 1.92283237 |
| 19 | MP0002102_abnormal_ear_morphology | 1.90427328 |
| 20 | MP0003195_calcinosis | 1.88416004 |
| 21 | MP0002938_white_spotting | 1.87059166 |
| 22 | MP0008789_abnormal_olfactory_epithelium | 1.81833126 |
| 23 | MP0008995_early_reproductive_senescence | 1.71148830 |
| 24 | MP0002638_abnormal_pupillary_reflex | 1.69624797 |
| 25 | MP0003646_muscle_fatigue | 1.67871745 |
| 26 | MP0002160_abnormal_reproductive_system | 1.66487917 |
| 27 | MP0003121_genomic_imprinting | 1.64099354 |
| 28 | MP0008058_abnormal_DNA_repair | 1.56329824 |
| 29 | MP0002909_abnormal_adrenal_gland | 1.55464142 |
| 30 | MP0003011_delayed_dark_adaptation | 1.50656320 |
| 31 | MP0005394_taste/olfaction_phenotype | 1.49470555 |
| 32 | MP0005499_abnormal_olfactory_system | 1.49470555 |
| 33 | MP0001188_hyperpigmentation | 1.47884156 |
| 34 | MP0001293_anophthalmia | 1.47880869 |
| 35 | MP0002837_dystrophic_cardiac_calcinosis | 1.41028441 |
| 36 | MP0006292_abnormal_olfactory_placode | 1.38014185 |
| 37 | MP0005551_abnormal_eye_electrophysiolog | 1.32450201 |
| 38 | MP0003890_abnormal_embryonic-extraembry | 1.32334836 |
| 39 | MP0008875_abnormal_xenobiotic_pharmacok | 1.31839253 |
| 40 | MP0004043_abnormal_pH_regulation | 1.30989784 |
| 41 | MP0004885_abnormal_endolymph | 1.28271894 |
| 42 | MP0002736_abnormal_nociception_after | 1.23662025 |
| 43 | MP0002282_abnormal_trachea_morphology | 1.23515096 |
| 44 | MP0003880_abnormal_central_pattern | 1.22903791 |
| 45 | MP0003787_abnormal_imprinting | 1.21630995 |
| 46 | MP0000383_abnormal_hair_follicle | 1.20838133 |
| 47 | MP0002234_abnormal_pharynx_morphology | 1.16042596 |
| 48 | MP0001486_abnormal_startle_reflex | 1.14883525 |
| 49 | MP0000427_abnormal_hair_cycle | 1.14312252 |
| 50 | MP0001968_abnormal_touch/_nociception | 1.13806363 |
| 51 | MP0001440_abnormal_grooming_behavior | 1.13463266 |
| 52 | MP0005084_abnormal_gallbladder_morpholo | 1.12171814 |
| 53 | MP0005645_abnormal_hypothalamus_physiol | 1.10636476 |
| 54 | MP0002090_abnormal_vision | 1.10137377 |
| 55 | MP0000647_abnormal_sebaceous_gland | 1.09108984 |
| 56 | MP0010386_abnormal_urinary_bladder | 1.08426680 |
| 57 | MP0002928_abnormal_bile_duct | 1.06501153 |
| 58 | MP0005647_abnormal_sex_gland | 1.05352929 |
| 59 | MP0004742_abnormal_vestibular_system | 1.05126145 |
| 60 | MP0005670_abnormal_white_adipose | 1.04818194 |
| 61 | MP0001905_abnormal_dopamine_level | 1.04264462 |
| 62 | MP0002572_abnormal_emotion/affect_behav | 1.03084028 |
| 63 | MP0005389_reproductive_system_phenotype | 1.01262606 |
| 64 | MP0002822_catalepsy | 1.00910180 |
| 65 | MP0002735_abnormal_chemical_nociception | 1.00305868 |
| 66 | MP0005248_abnormal_Harderian_gland | 0.98972629 |
| 67 | MP0005195_abnormal_posterior_eye | 0.98216880 |
| 68 | MP0009745_abnormal_behavioral_response | 0.97490068 |
| 69 | MP0003878_abnormal_ear_physiology | 0.96899612 |
| 70 | MP0005377_hearing/vestibular/ear_phenot | 0.96899612 |
| 71 | MP0002557_abnormal_social/conspecific_i | 0.96650002 |
| 72 | MP0000778_abnormal_nervous_system | 0.96509268 |
| 73 | MP0009780_abnormal_chondrocyte_physiolo | 0.96312555 |
| 74 | MP0005253_abnormal_eye_physiology | 0.96030126 |
| 75 | MP0002277_abnormal_respiratory_mucosa | 0.95707376 |
| 76 | MP0010030_abnormal_orbit_morphology | 0.95416275 |
| 77 | MP0002751_abnormal_autonomic_nervous | 0.94687971 |
| 78 | MP0003283_abnormal_digestive_organ | 0.94489533 |
| 79 | MP0005187_abnormal_penis_morphology | 0.93600791 |
| 80 | MP0000955_abnormal_spinal_cord | 0.93121306 |
| 81 | MP0003119_abnormal_digestive_system | 0.92812025 |
| 82 | MP0000372_irregular_coat_pigmentation | 0.92635210 |
| 83 | MP0010678_abnormal_skin_adnexa | 0.91384203 |
| 84 | MP0004147_increased_porphyrin_level | 0.90707707 |
| 85 | MP0004133_heterotaxia | 0.90551327 |
| 86 | MP0005451_abnormal_body_composition | 0.89040615 |
| 87 | MP0005367_renal/urinary_system_phenotyp | 0.88545157 |
| 88 | MP0000516_abnormal_urinary_system | 0.88545157 |
| 89 | MP0003786_premature_aging | 0.88004264 |
| 90 | MP0000569_abnormal_digit_pigmentation | 0.87168884 |
| 91 | MP0001764_abnormal_homeostasis | 0.87009516 |
| 92 | MP0001970_abnormal_pain_threshold | 0.86995950 |
| 93 | MP0004859_abnormal_synaptic_plasticity | 0.85983019 |
| 94 | MP0000026_abnormal_inner_ear | 0.85889779 |
| 95 | MP0000631_abnormal_neuroendocrine_gland | 0.83002971 |
| 96 | MP0008057_abnormal_DNA_replication | 0.82581925 |
| 97 | MP0006276_abnormal_autonomic_nervous | 0.82507242 |
| 98 | MP0009697_abnormal_copulation | 0.81997912 |
| 99 | MP0001765_abnormal_ion_homeostasis | 0.81340840 |
| 100 | MP0001119_abnormal_female_reproductive | 0.80496511 |
| 101 | MP0001501_abnormal_sleep_pattern | 0.79829872 |
| 102 | MP0001963_abnormal_hearing_physiology | 0.79758198 |
| 103 | MP0002272_abnormal_nervous_system | 0.79558861 |
| 104 | MP0002734_abnormal_mechanical_nocicepti | 0.78318354 |
| 105 | MP0000049_abnormal_middle_ear | 0.77228764 |
| 106 | MP0002752_abnormal_somatic_nervous | 0.76346020 |
| 107 | MP0005379_endocrine/exocrine_gland_phen | 0.76010436 |
| 108 | MP0001986_abnormal_taste_sensitivity | 0.75893472 |
| 109 | MP0006072_abnormal_retinal_apoptosis | 0.75626316 |
| 110 | MP0010094_abnormal_chromosome_stability | 0.74556163 |
| 111 | MP0002063_abnormal_learning/memory/cond | 0.74478394 |
| 112 | MP0003635_abnormal_synaptic_transmissio | 0.73228658 |
| 113 | MP0002067_abnormal_sensory_capabilities | 0.72179282 |
| 114 | MP0001485_abnormal_pinna_reflex | 0.71403028 |
| 115 | MP0004019_abnormal_vitamin_homeostasis | 0.70299914 |
| 116 | MP0004381_abnormal_hair_follicle | 0.69897968 |
| 117 | MP0001346_abnormal_lacrimal_gland | 0.67662583 |
| 118 | MP0002249_abnormal_larynx_morphology | 0.67161311 |
| 119 | MP0003937_abnormal_limbs/digits/tail_de | 0.65521651 |
| 120 | MP0002152_abnormal_brain_morphology | 0.63248047 |
| 121 | MP0003941_abnormal_skin_development | 0.63098905 |
| 122 | MP0002163_abnormal_gland_morphology | 0.62319853 |
| 123 | MP0003861_abnormal_nervous_system | 0.62201937 |
| 124 | MP0003699_abnormal_female_reproductive | 0.62169741 |
| 125 | MP0002184_abnormal_innervation | 0.61953528 |
| 126 | MP0005391_vision/eye_phenotype | 0.61455360 |
| 127 | MP0003879_abnormal_hair_cell | 0.60106227 |
| 128 | MP0002116_abnormal_craniofacial_bone | 0.59936124 |
| 129 | MP0005409_darkened_coat_color | 0.58843831 |
| 130 | MP0002064_seizures | 0.58625076 |
| 131 | MP0002876_abnormal_thyroid_physiology | 0.57996447 |
| 132 | MP0001502_abnormal_circadian_rhythm | 0.57736243 |
| 133 | MP0005423_abnormal_somatic_nervous | 0.57558377 |
| 134 | MP0009250_abnormal_appendicular_skeleto | 0.56536734 |
| 135 | MP0003718_maternal_effect | 0.56085808 |
| 136 | MP0002233_abnormal_nose_morphology | 0.54664215 |
| 137 | MP0002882_abnormal_neuron_morphology | 0.54263679 |
| 138 | MP0004142_abnormal_muscle_tone | 0.52647138 |
| 139 | MP0001664_abnormal_digestion | 0.52514313 |
| 140 | MP0003938_abnormal_ear_development | 0.50433087 |
| 141 | MP0000015_abnormal_ear_pigmentation | 0.50419114 |
| 142 | MP0004270_analgesia | 0.49989589 |
| 143 | MP0002132_abnormal_respiratory_system | 0.49767475 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.88027009 |
| 2 | Abnormal ciliary motility (HP:0012262) | 8.41834790 |
| 3 | Abnormal respiratory epithelium morphology (HP:0012253) | 8.21953654 |
| 4 | Abnormal respiratory motile cilium morphology (HP:0005938) | 8.21953654 |
| 5 | Rhinitis (HP:0012384) | 8.16900427 |
| 6 | Chronic bronchitis (HP:0004469) | 7.37922807 |
| 7 | Nasal polyposis (HP:0100582) | 4.74132669 |
| 8 | Bronchiectasis (HP:0002110) | 4.62584918 |
| 9 | Nephronophthisis (HP:0000090) | 4.56943894 |
| 10 | Infertility (HP:0000789) | 4.52774558 |
| 11 | Abnormality of the nasal mucosa (HP:0000433) | 3.80551031 |
| 12 | Bronchitis (HP:0012387) | 3.77679701 |
| 13 | Tubulointerstitial nephritis (HP:0001970) | 3.72253887 |
| 14 | Abnormality of the renal medulla (HP:0100957) | 3.60102374 |
| 15 | Molar tooth sign on MRI (HP:0002419) | 3.50332777 |
| 16 | Abnormality of midbrain morphology (HP:0002418) | 3.50332777 |
| 17 | Medial flaring of the eyebrow (HP:0010747) | 3.38550218 |
| 18 | Recurrent sinusitis (HP:0011108) | 3.25451509 |
| 19 | Pancreatic fibrosis (HP:0100732) | 3.17250435 |
| 20 | True hermaphroditism (HP:0010459) | 3.08939862 |
| 21 | Tubular atrophy (HP:0000092) | 2.83672398 |
| 22 | Recurrent otitis media (HP:0000403) | 2.82556823 |
| 23 | Postaxial foot polydactyly (HP:0001830) | 2.74880499 |
| 24 | Male infertility (HP:0003251) | 2.61569833 |
| 25 | Pancreatic cysts (HP:0001737) | 2.57838333 |
| 26 | Congenital hepatic fibrosis (HP:0002612) | 2.55318318 |
| 27 | Abnormality of the labia minora (HP:0012880) | 2.54181169 |
| 28 | Gait imbalance (HP:0002141) | 2.52914177 |
| 29 | Congenital primary aphakia (HP:0007707) | 2.52561336 |
| 30 | Tubulointerstitial abnormality (HP:0001969) | 2.51542823 |
| 31 | Median cleft lip (HP:0000161) | 2.44540114 |
| 32 | Occipital encephalocele (HP:0002085) | 2.42448381 |
| 33 | Bile duct proliferation (HP:0001408) | 2.41641589 |
| 34 | Abnormal biliary tract physiology (HP:0012439) | 2.41641589 |
| 35 | Cystic liver disease (HP:0006706) | 2.41129307 |
| 36 | Hyperglycinemia (HP:0002154) | 2.40484496 |
| 37 | Chronic hepatic failure (HP:0100626) | 2.32255274 |
| 38 | Abnormality of permanent molar morphology (HP:0011071) | 2.30963431 |
| 39 | Abnormality of the dental root (HP:0006486) | 2.30963431 |
| 40 | Taurodontia (HP:0000679) | 2.30963431 |
| 41 | Nephrogenic diabetes insipidus (HP:0009806) | 2.30845112 |
| 42 | Intestinal atresia (HP:0011100) | 2.28697032 |
| 43 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 2.27487057 |
| 44 | Stage 5 chronic kidney disease (HP:0003774) | 2.25834175 |
| 45 | Acute necrotizing encephalopathy (HP:0006965) | 2.23504492 |
| 46 | Abnormality of molar (HP:0011077) | 2.22174172 |
| 47 | Abnormality of molar morphology (HP:0011070) | 2.22174172 |
| 48 | Fibular hypoplasia (HP:0003038) | 2.21371111 |
| 49 | Supernumerary spleens (HP:0009799) | 2.19634166 |
| 50 | Abnormality of the dental pulp (HP:0006479) | 2.18596263 |
| 51 | Abnormality of dentin (HP:0010299) | 2.18304822 |
| 52 | Abnormality of the renal cortex (HP:0011035) | 2.18277081 |
| 53 | Progressive macrocephaly (HP:0004481) | 2.13119587 |
| 54 | Abnormal spermatogenesis (HP:0008669) | 2.12972073 |
| 55 | Postaxial hand polydactyly (HP:0001162) | 2.12509316 |
| 56 | Furrowed tongue (HP:0000221) | 2.11761238 |
| 57 | Type II lissencephaly (HP:0007260) | 2.10157803 |
| 58 | Genital tract atresia (HP:0001827) | 2.06424314 |
| 59 | Chronic sinusitis (HP:0011109) | 2.05239159 |
| 60 | Anophthalmia (HP:0000528) | 2.04004752 |
| 61 | Acute encephalopathy (HP:0006846) | 2.03378299 |
| 62 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 13.6479502 |
| 63 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 10.5273630 |
| 64 | Absent/shortened dynein arms (HP:0200106) | 10.5273630 |
| 65 | Vaginal atresia (HP:0000148) | 1.99002709 |
| 66 | Narrow forehead (HP:0000341) | 1.98173708 |
| 67 | Facial cleft (HP:0002006) | 1.97853386 |
| 68 | Methylmalonic acidemia (HP:0002912) | 1.97325241 |
| 69 | Mitochondrial inheritance (HP:0001427) | 1.96786654 |
| 70 | Poor coordination (HP:0002370) | 1.93627522 |
| 71 | Broad foot (HP:0001769) | 1.90942871 |
| 72 | Hemiparesis (HP:0001269) | 1.90939974 |
| 73 | Male pseudohermaphroditism (HP:0000037) | 1.89939300 |
| 74 | Polyphagia (HP:0002591) | 1.86614442 |
| 75 | Hypothermia (HP:0002045) | 1.85885434 |
| 76 | Azoospermia (HP:0000027) | 1.84673156 |
| 77 | Colon cancer (HP:0003003) | 1.84175613 |
| 78 | Increased CSF lactate (HP:0002490) | 1.82877216 |
| 79 | Renal dysplasia (HP:0000110) | 1.82682389 |
| 80 | Renal cortical cysts (HP:0000803) | 1.82312908 |
| 81 | Abnormal mitochondria in muscle tissue (HP:0008316) | 1.81733433 |
| 82 | Hepatic necrosis (HP:0002605) | 1.81062327 |
| 83 | Attenuation of retinal blood vessels (HP:0007843) | 1.80743614 |
| 84 | Decreased central vision (HP:0007663) | 1.80682699 |
| 85 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 1.80673248 |
| 86 | Preaxial hand polydactyly (HP:0001177) | 1.80634160 |
| 87 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.80271314 |
| 88 | Oculomotor apraxia (HP:0000657) | 1.79675178 |
| 89 | Hyperglycinuria (HP:0003108) | 1.79415416 |
| 90 | Abolished electroretinogram (ERG) (HP:0000550) | 1.78699273 |
| 91 | Large for gestational age (HP:0001520) | 1.78149828 |
| 92 | Hepatocellular necrosis (HP:0001404) | 1.77357222 |
| 93 | Abnormal rod and cone electroretinograms (HP:0008323) | 1.76901184 |
| 94 | Polydipsia (HP:0001959) | 1.75462954 |
| 95 | Abnormal drinking behavior (HP:0030082) | 1.75462954 |
| 96 | Abnormality of glycine metabolism (HP:0010895) | 1.74352110 |
| 97 | Abnormality of serine family amino acid metabolism (HP:0010894) | 1.74352110 |
| 98 | Gonadotropin excess (HP:0000837) | 1.74050155 |
| 99 | Specific learning disability (HP:0001328) | 1.73160723 |
| 100 | Oligodactyly (hands) (HP:0001180) | 1.73001189 |
| 101 | Progressive cerebellar ataxia (HP:0002073) | 1.71142926 |
| 102 | Polyuria (HP:0000103) | 1.69413670 |
| 103 | Prominent nasal bridge (HP:0000426) | 1.68709456 |
| 104 | Bifid tongue (HP:0010297) | 1.68534605 |
| 105 | Multicystic kidney dysplasia (HP:0000003) | 1.68152195 |
| 106 | Abnormality of alanine metabolism (HP:0010916) | 1.67867695 |
| 107 | Hyperalaninemia (HP:0003348) | 1.67867695 |
| 108 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 1.67867695 |
| 109 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.67576998 |
| 110 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.65669817 |
| 111 | Congenital stationary night blindness (HP:0007642) | 1.64537415 |
| 112 | Anencephaly (HP:0002323) | 1.63272842 |
| 113 | Aplasia/Hypoplasia of the spleen (HP:0010451) | 1.62127965 |
| 114 | Hyperinsulinemic hypoglycemia (HP:0000825) | 1.62033090 |
| 115 | Chorioretinal coloboma (HP:0000567) | 1.61633616 |
| 116 | Gastrointestinal atresia (HP:0002589) | 1.60898219 |
| 117 | Decreased testicular size (HP:0008734) | 1.59429709 |
| 118 | Labial hypoplasia (HP:0000066) | 1.56738752 |
| 119 | Sclerocornea (HP:0000647) | 1.55523446 |
| 120 | Dandy-Walker malformation (HP:0001305) | 1.55175242 |
| 121 | Chromsome breakage (HP:0040012) | 1.54349223 |
| 122 | Tubulointerstitial fibrosis (HP:0005576) | 1.54265077 |
| 123 | Aplasia/Hypoplasia of the fibula (HP:0006492) | 1.50285999 |
| 124 | Abnormality of renal excretion (HP:0011036) | 1.47857231 |
| 125 | Short thorax (HP:0010306) | 1.45259429 |
| 126 | Nephropathy (HP:0000112) | 1.43398579 |
| 127 | Impulsivity (HP:0100710) | 1.43376047 |
| 128 | Abnormality of macular pigmentation (HP:0008002) | 1.43014937 |
| 129 | Microglossia (HP:0000171) | 1.40822113 |
| 130 | Optic nerve hypoplasia (HP:0000609) | 1.40496771 |
| 131 | Recurrent bronchitis (HP:0002837) | 1.37517631 |
| 132 | Aganglionic megacolon (HP:0002251) | 1.34595255 |
| 133 | Dyschromatopsia (HP:0007641) | 1.34318338 |
| 134 | Retinal dysplasia (HP:0007973) | 1.33941334 |
| 135 | Abnormality of abdominal situs (HP:0011620) | 1.33860895 |
| 136 | Abdominal situs inversus (HP:0003363) | 1.33860895 |
| 137 | Abnormality of the lower motor neuron (HP:0002366) | 1.32861752 |
| 138 | Astigmatism (HP:0000483) | 1.28374866 |
| 139 | Bell-shaped thorax (HP:0001591) | 1.26103637 |
| 140 | Short ribs (HP:0000773) | 1.25037403 |
| 141 | Atelectasis (HP:0100750) | 1.24589785 |
| 142 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.24100141 |
| 143 | Retinitis pigmentosa (HP:0000510) | 1.23949780 |
| 144 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.22274890 |
| 145 | Hyperphosphatemia (HP:0002905) | 1.18883919 |
| 146 | Sloping forehead (HP:0000340) | 1.18842575 |
| 147 | Nephroblastoma (Wilms tumor) (HP:0002667) | 1.18266105 |
| 148 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.17867810 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK4 | 7.14005881 |
| 2 | PDK3 | 7.14005881 |
| 3 | PDK2 | 4.43665860 |
| 4 | FRK | 4.36965699 |
| 5 | CASK | 3.41955917 |
| 6 | PNCK | 3.38422254 |
| 7 | MAP4K2 | 3.24801602 |
| 8 | MAPK15 | 3.06576911 |
| 9 | TESK1 | 2.98764145 |
| 10 | PRKD3 | 2.79362771 |
| 11 | TRIM28 | 2.65580704 |
| 12 | STK39 | 2.45604334 |
| 13 | WNK4 | 2.16333758 |
| 14 | ICK | 2.12605774 |
| 15 | BCR | 2.01303810 |
| 16 | PTK2B | 1.87589505 |
| 17 | STK38L | 1.80447098 |
| 18 | FGFR2 | 1.70952941 |
| 19 | MST4 | 1.61478382 |
| 20 | MUSK | 1.48292613 |
| 21 | NEK2 | 1.46056659 |
| 22 | CSNK1G2 | 1.45397789 |
| 23 | CSNK1G1 | 1.44664878 |
| 24 | ERBB3 | 1.41898017 |
| 25 | GRK1 | 1.38132440 |
| 26 | CSNK1G3 | 1.35408896 |
| 27 | ACVR1B | 1.32477079 |
| 28 | CDK3 | 1.25555517 |
| 29 | PAK3 | 1.24168460 |
| 30 | MARK1 | 1.20074503 |
| 31 | STK38 | 1.17153037 |
| 32 | BCKDK | 1.15741340 |
| 33 | TTK | 1.12982469 |
| 34 | STK3 | 1.10065462 |
| 35 | CSNK1A1L | 1.09285477 |
| 36 | BMPR1B | 1.07790804 |
| 37 | LATS1 | 1.07520385 |
| 38 | WNK1 | 1.06999681 |
| 39 | CDC7 | 1.05183208 |
| 40 | PRKCE | 1.04326303 |
| 41 | CHEK2 | 1.02875346 |
| 42 | MKNK1 | 0.99971443 |
| 43 | MAP2K7 | 0.99270566 |
| 44 | PLK4 | 0.97607224 |
| 45 | MAP3K12 | 0.92632562 |
| 46 | IRAK1 | 0.92560561 |
| 47 | NTRK2 | 0.91604196 |
| 48 | EPHA4 | 0.91334787 |
| 49 | EPHA3 | 0.86516061 |
| 50 | MKNK2 | 0.82365438 |
| 51 | CDK8 | 0.81643870 |
| 52 | SRPK1 | 0.80893687 |
| 53 | MAP3K4 | 0.79696610 |
| 54 | NTRK3 | 0.78361252 |
| 55 | LIMK1 | 0.78027889 |
| 56 | EIF2AK3 | 0.76422517 |
| 57 | PINK1 | 0.75889702 |
| 58 | NUAK1 | 0.75712165 |
| 59 | CCNB1 | 0.75345692 |
| 60 | TLK1 | 0.73898795 |
| 61 | EPHB2 | 0.72726044 |
| 62 | MAPK13 | 0.70437401 |
| 63 | TNK2 | 0.70169884 |
| 64 | NEK6 | 0.67854857 |
| 65 | TNIK | 0.66649708 |
| 66 | LMTK2 | 0.66288315 |
| 67 | VRK2 | 0.65575172 |
| 68 | FER | 0.63622563 |
| 69 | MARK2 | 0.63164204 |
| 70 | MINK1 | 0.63158886 |
| 71 | PRKCG | 0.62693464 |
| 72 | CAMKK2 | 0.59719181 |
| 73 | RPS6KA4 | 0.59312399 |
| 74 | PDK1 | 0.59188100 |
| 75 | YES1 | 0.56318261 |
| 76 | CSNK1A1 | 0.56038117 |
| 77 | VRK1 | 0.54975833 |
| 78 | DAPK2 | 0.54465262 |
| 79 | STK16 | 0.54435291 |
| 80 | ADRBK2 | 0.53666477 |
| 81 | CAMK2A | 0.52428847 |
| 82 | UHMK1 | 0.51607155 |
| 83 | TGFBR1 | 0.50770495 |
| 84 | BRAF | 0.50488904 |
| 85 | AKT3 | 0.50182677 |
| 86 | ATR | 0.50105587 |
| 87 | CDK12 | 0.49277805 |
| 88 | MAP2K6 | 0.48262988 |
| 89 | ERBB4 | 0.47837566 |
| 90 | MAPKAPK3 | 0.47103373 |
| 91 | CDK19 | 0.46703055 |
| 92 | ADRBK1 | 0.46277013 |
| 93 | NLK | 0.45736159 |
| 94 | CAMK2D | 0.45551830 |
| 95 | ATM | 0.44267696 |
| 96 | TIE1 | 0.43869288 |
| 97 | OXSR1 | 0.42381461 |
| 98 | WNK3 | 0.42070305 |
| 99 | DMPK | 0.40991262 |
| 100 | RPS6KA5 | 0.40449333 |
| 101 | CHEK1 | 0.40420405 |
| 102 | DYRK3 | 0.40280544 |
| 103 | PLK2 | 0.39541802 |
| 104 | STK24 | 0.39488053 |
| 105 | ZAK | 0.39380913 |
| 106 | NEK1 | 0.38968610 |
| 107 | CDK9 | 0.37373508 |
| 108 | PKN1 | 0.36780334 |
| 109 | PASK | 0.36260100 |
| 110 | PRKG1 | 0.36161263 |
| 111 | CAMK1 | 0.36012952 |
| 112 | TSSK6 | 0.35744415 |
| 113 | PLK1 | 0.35351640 |
| 114 | PRKCI | 0.35059104 |
| 115 | EIF2AK2 | 0.33999654 |
| 116 | NME1 | 0.33569839 |
| 117 | CAMK2B | 0.32697233 |
| 118 | PIK3CA | 0.32619951 |
| 119 | PRKACB | 0.32466199 |
| 120 | CSNK1D | 0.32154883 |
| 121 | PRKAA2 | 0.31267485 |
| 122 | PRKAA1 | 0.29920923 |
| 123 | BMPR2 | 0.29748126 |
| 124 | WEE1 | 0.29362877 |
| 125 | PRKCQ | 0.29271470 |
| 126 | SGK2 | 0.27778459 |
| 127 | DYRK2 | 0.26973330 |
| 128 | CAMK1G | 0.25419581 |
| 129 | PHKG1 | 0.24982511 |
| 130 | PHKG2 | 0.24982511 |
| 131 | INSRR | 0.24837126 |
| 132 | PLK3 | 0.23900228 |
| 133 | PRKACA | 0.22432801 |
| 134 | RPS6KB1 | 0.21502741 |
| 135 | CAMK2G | 0.21017476 |
| 136 | DYRK1A | 0.19374114 |
| 137 | MAP3K6 | 0.19167091 |
| 138 | BRSK2 | 0.18976153 |
| 139 | IRAK2 | 0.17812066 |
| 140 | MAPKAPK5 | 0.17472994 |
| 141 | BRD4 | 0.17340014 |
| 142 | SGK494 | 0.17296132 |
| 143 | SGK223 | 0.17296132 |
| 144 | STK11 | 0.17008770 |
| 145 | MAP2K4 | 0.16681586 |
| 146 | AURKA | 0.16615345 |
| 147 | CSNK1E | 0.16267685 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.73627397 |
| 2 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 3.50373683 |
| 3 | Basal transcription factors_Homo sapiens_hsa03022 | 3.38030468 |
| 4 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 3.21039405 |
| 5 | Olfactory transduction_Homo sapiens_hsa04740 | 2.87086777 |
| 6 | Protein export_Homo sapiens_hsa03060 | 2.85723377 |
| 7 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.62692610 |
| 8 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.43518463 |
| 9 | Nicotine addiction_Homo sapiens_hsa05033 | 2.43221825 |
| 10 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 2.35669746 |
| 11 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.33633195 |
| 12 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 2.30396970 |
| 13 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 2.18189051 |
| 14 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.15707459 |
| 15 | Amphetamine addiction_Homo sapiens_hsa05031 | 2.13352513 |
| 16 | Pyruvate metabolism_Homo sapiens_hsa00620 | 2.11415555 |
| 17 | Huntingtons disease_Homo sapiens_hsa05016 | 2.03541015 |
| 18 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.95293621 |
| 19 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.93699100 |
| 20 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 1.90678089 |
| 21 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.87472022 |
| 22 | Parkinsons disease_Homo sapiens_hsa05012 | 1.86317527 |
| 23 | Taste transduction_Homo sapiens_hsa04742 | 1.84985247 |
| 24 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.77533896 |
| 25 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.71843937 |
| 26 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.61019404 |
| 27 | Peroxisome_Homo sapiens_hsa04146 | 1.60300059 |
| 28 | Renin secretion_Homo sapiens_hsa04924 | 1.56982511 |
| 29 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.56867882 |
| 30 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.55947220 |
| 31 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.55921774 |
| 32 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.54333880 |
| 33 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.53381389 |
| 34 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 1.49320647 |
| 35 | Purine metabolism_Homo sapiens_hsa00230 | 1.47122176 |
| 36 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.46793888 |
| 37 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 1.46675696 |
| 38 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.42434067 |
| 39 | Morphine addiction_Homo sapiens_hsa05032 | 1.38892314 |
| 40 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.38865974 |
| 41 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.38785052 |
| 42 | Insulin secretion_Homo sapiens_hsa04911 | 1.36321545 |
| 43 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.36178281 |
| 44 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 1.33247748 |
| 45 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.29989544 |
| 46 | Phototransduction_Homo sapiens_hsa04744 | 1.29054002 |
| 47 | Circadian entrainment_Homo sapiens_hsa04713 | 1.26714377 |
| 48 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.24123102 |
| 49 | Mineral absorption_Homo sapiens_hsa04978 | 1.21814196 |
| 50 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.21500747 |
| 51 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 1.19041930 |
| 52 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 1.19000361 |
| 53 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.18732918 |
| 54 | Alzheimers disease_Homo sapiens_hsa05010 | 1.18365494 |
| 55 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.18008894 |
| 56 | RNA polymerase_Homo sapiens_hsa03020 | 1.16514454 |
| 57 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.16495402 |
| 58 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.15491685 |
| 59 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.15176043 |
| 60 | ABC transporters_Homo sapiens_hsa02010 | 1.09672644 |
| 61 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.09397030 |
| 62 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.05277162 |
| 63 | cAMP signaling pathway_Homo sapiens_hsa04024 | 1.04989755 |
| 64 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.04895177 |
| 65 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.04684180 |
| 66 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.03903631 |
| 67 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.03734200 |
| 68 | Cocaine addiction_Homo sapiens_hsa05030 | 1.02321448 |
| 69 | Homologous recombination_Homo sapiens_hsa03440 | 1.01603715 |
| 70 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.00705082 |
| 71 | Salivary secretion_Homo sapiens_hsa04970 | 1.00046057 |
| 72 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.92305947 |
| 73 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.91813067 |
| 74 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.91520239 |
| 75 | Long-term potentiation_Homo sapiens_hsa04720 | 0.91065539 |
| 76 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.88619232 |
| 77 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.88394184 |
| 78 | Histidine metabolism_Homo sapiens_hsa00340 | 0.85140079 |
| 79 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.83346492 |
| 80 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.83009317 |
| 81 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.82171581 |
| 82 | Circadian rhythm_Homo sapiens_hsa04710 | 0.81060650 |
| 83 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.79658358 |
| 84 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.79602727 |
| 85 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.79211747 |
| 86 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.77436332 |
| 87 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.75355788 |
| 88 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.74677608 |
| 89 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.73249691 |
| 90 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.72793801 |
| 91 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.72285750 |
| 92 | Mismatch repair_Homo sapiens_hsa03430 | 0.71316890 |
| 93 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.71055030 |
| 94 | Proteasome_Homo sapiens_hsa03050 | 0.70127772 |
| 95 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.69784493 |
| 96 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.69582569 |
| 97 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.68727785 |
| 98 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.67846880 |
| 99 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.67270542 |
| 100 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.66606952 |
| 101 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.66121523 |
| 102 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.65126446 |
| 103 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.64940359 |
| 104 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.64922007 |
| 105 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.64840665 |
| 106 | GABAergic synapse_Homo sapiens_hsa04727 | 0.63103253 |
| 107 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.60636835 |
| 108 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.60147353 |
| 109 | Retinol metabolism_Homo sapiens_hsa00830 | 0.59992387 |
| 110 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.57655415 |
| 111 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.56402446 |
| 112 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.55353837 |
| 113 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.54648398 |
| 114 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.52384507 |
| 115 | RNA degradation_Homo sapiens_hsa03018 | 0.51508009 |
| 116 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.51118979 |
| 117 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.49065961 |
| 118 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.48650552 |
| 119 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.46785430 |
| 120 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.45850278 |
| 121 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.45441586 |
| 122 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.44578423 |
| 123 | Base excision repair_Homo sapiens_hsa03410 | 0.43731399 |
| 124 | Axon guidance_Homo sapiens_hsa04360 | 0.43328348 |
| 125 | Cell cycle_Homo sapiens_hsa04110 | 0.42599462 |
| 126 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.41594078 |
| 127 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.39668937 |
| 128 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.39247801 |
| 129 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.38093178 |
| 130 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.38066721 |
| 131 | Alcoholism_Homo sapiens_hsa05034 | 0.37741278 |
| 132 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.35944549 |
| 133 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.34294804 |
| 134 | Metabolic pathways_Homo sapiens_hsa01100 | 0.34196825 |
| 135 | Melanogenesis_Homo sapiens_hsa04916 | 0.33907987 |
| 136 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.33643980 |
| 137 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.32192626 |
| 138 | RNA transport_Homo sapiens_hsa03013 | 0.31374966 |
| 139 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.30793418 |
| 140 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.30786361 |
| 141 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.30569703 |
| 142 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.30334708 |

