

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | piRNA metabolic process (GO:0034587) | 9.28496027 |
| 2 | male meiosis (GO:0007140) | 7.77690483 |
| 3 | axonemal dynein complex assembly (GO:0070286) | 6.86292939 |
| 4 | DNA methylation involved in gamete generation (GO:0043046) | 6.76295661 |
| 5 | synaptonemal complex organization (GO:0070193) | 6.48173485 |
| 6 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 6.31531575 |
| 7 | sperm motility (GO:0030317) | 6.25914807 |
| 8 | synaptonemal complex assembly (GO:0007130) | 6.20796010 |
| 9 | epithelial cilium movement (GO:0003351) | 6.11281062 |
| 10 | fusion of sperm to egg plasma membrane (GO:0007342) | 6.09267419 |
| 11 | motile cilium assembly (GO:0044458) | 6.03864533 |
| 12 | sperm-egg recognition (GO:0035036) | 5.71742862 |
| 13 | acrosome assembly (GO:0001675) | 5.67257557 |
| 14 | cilium movement (GO:0003341) | 5.62684603 |
| 15 | binding of sperm to zona pellucida (GO:0007339) | 5.45820792 |
| 16 | spermatid development (GO:0007286) | 5.21804299 |
| 17 | acrosome reaction (GO:0007340) | 5.13513437 |
| 18 | multicellular organism reproduction (GO:0032504) | 5.11959526 |
| 19 | chromosome organization involved in meiosis (GO:0070192) | 5.06594718 |
| 20 | cell-cell recognition (GO:0009988) | 5.04373812 |
| 21 | male meiosis I (GO:0007141) | 4.97448330 |
| 22 | plasma membrane fusion (GO:0045026) | 4.92363589 |
| 23 | DNA double-strand break processing (GO:0000729) | 4.63039675 |
| 24 | meiotic nuclear division (GO:0007126) | 4.45055754 |
| 25 | * intraciliary transport (GO:0042073) | 4.40899243 |
| 26 | regulation of meiosis I (GO:0060631) | 4.13714454 |
| 27 | microtubule depolymerization (GO:0007019) | 4.13008536 |
| 28 | neural tube formation (GO:0001841) | 4.06924581 |
| 29 | cell wall macromolecule catabolic process (GO:0016998) | 4.05105956 |
| 30 | cell wall macromolecule metabolic process (GO:0044036) | 4.05105956 |
| 31 | regulation of cilium movement (GO:0003352) | 4.03170621 |
| 32 | replicative senescence (GO:0090399) | 3.89054531 |
| 33 | synapsis (GO:0007129) | 3.88212757 |
| 34 | somite rostral/caudal axis specification (GO:0032525) | 3.87959325 |
| 35 | mitotic sister chromatid cohesion (GO:0007064) | 3.87457434 |
| 36 | gene silencing by RNA (GO:0031047) | 3.82576579 |
| 37 | reproduction (GO:0000003) | 3.82257277 |
| 38 | meiosis I (GO:0007127) | 3.81483318 |
| 39 | single fertilization (GO:0007338) | 3.77141231 |
| 40 | microtubule anchoring (GO:0034453) | 3.65484517 |
| 41 | meiotic cell cycle (GO:0051321) | 3.62973107 |
| 42 | negative regulation of translation, ncRNA-mediated (GO:0040033) | 3.62321971 |
| 43 | regulation of translation, ncRNA-mediated (GO:0045974) | 3.62321971 |
| 44 | negative regulation of translation involved in gene silencing by miRNA (GO:0035278) | 3.62321971 |
| 45 | germ cell development (GO:0007281) | 3.56962181 |
| 46 | genitalia morphogenesis (GO:0035112) | 3.56869557 |
| 47 | fertilization (GO:0009566) | 3.56535590 |
| 48 | left/right pattern formation (GO:0060972) | 3.54475414 |
| 49 | regulation of centriole replication (GO:0046599) | 3.53129903 |
| 50 | regulation of centrosome duplication (GO:0010824) | 3.45348116 |
| 51 | spermatogenesis (GO:0007283) | 3.41783654 |
| 52 | protein prenylation (GO:0018342) | 3.41421170 |
| 53 | prenylation (GO:0097354) | 3.41421170 |
| 54 | male gamete generation (GO:0048232) | 3.41065641 |
| 55 | gonadal mesoderm development (GO:0007506) | 3.40747499 |
| 56 | DNA methylation (GO:0006306) | 3.39640109 |
| 57 | DNA alkylation (GO:0006305) | 3.39640109 |
| 58 | embryonic foregut morphogenesis (GO:0048617) | 3.37280174 |
| 59 | replication fork processing (GO:0031297) | 3.33153823 |
| 60 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.32713492 |
| 61 | pore complex assembly (GO:0046931) | 3.32440326 |
| 62 | negative regulation of inclusion body assembly (GO:0090084) | 3.29099148 |
| 63 | * ventricular system development (GO:0021591) | 3.24549797 |
| 64 | regulation of relaxation of muscle (GO:1901077) | 3.22884019 |
| 65 | cilium organization (GO:0044782) | 3.21225266 |
| 66 | meiotic cell cycle process (GO:1903046) | 3.20724098 |
| 67 | nuclear pore complex assembly (GO:0051292) | 3.20040462 |
| 68 | negative regulation of DNA repair (GO:0045738) | 3.19519174 |
| 69 | paraxial mesoderm development (GO:0048339) | 3.17871083 |
| 70 | cilium assembly (GO:0042384) | 3.15114403 |
| 71 | limb bud formation (GO:0060174) | 3.13773322 |
| 72 | gamete generation (GO:0007276) | 3.13394008 |
| 73 | DNA strand renaturation (GO:0000733) | 3.13086388 |
| 74 | establishment of protein localization to Golgi (GO:0072600) | 3.11682606 |
| 75 | inner ear receptor cell development (GO:0060119) | 3.11150508 |
| 76 | response to X-ray (GO:0010165) | 3.03829612 |
| 77 | centriole replication (GO:0007099) | 3.01758937 |
| 78 | seminiferous tubule development (GO:0072520) | 3.01502707 |
| 79 | histone H2A acetylation (GO:0043968) | 2.99224291 |
| 80 | sperm capacitation (GO:0048240) | 2.98408347 |
| 81 | sister chromatid cohesion (GO:0007062) | 2.96632676 |
| 82 | translesion synthesis (GO:0019985) | 2.96111102 |
| 83 | positive regulation of male gonad development (GO:2000020) | 2.92382131 |
| 84 | * protein localization to cilium (GO:0061512) | 2.92318513 |
| 85 | centriole assembly (GO:0098534) | 2.90821852 |
| 86 | intra-S DNA damage checkpoint (GO:0031573) | 2.90047158 |
| 87 | behavioral response to nicotine (GO:0035095) | 2.89205277 |
| 88 | regulation of centrosome cycle (GO:0046605) | 2.89121346 |
| 89 | cell recognition (GO:0008037) | 2.86289127 |
| 90 | microtubule severing (GO:0051013) | 2.85781134 |
| 91 | protein targeting to Golgi (GO:0000042) | 2.85473141 |
| 92 | somatic hypermutation of immunoglobulin genes (GO:0016446) | 2.83503300 |
| 93 | somatic diversification of immune receptors via somatic mutation (GO:0002566) | 2.83503300 |
| 94 | monoubiquitinated protein deubiquitination (GO:0035520) | 2.82346001 |
| 95 | behavioral response to ethanol (GO:0048149) | 2.80021601 |
| 96 | meiotic chromosome segregation (GO:0045132) | 2.79480026 |
| 97 | DNA ligation (GO:0006266) | 2.78188268 |
| 98 | regulation of histone H3-K9 methylation (GO:0051570) | 2.77682752 |
| 99 | microtubule organizing center organization (GO:0031023) | 2.73178497 |
| 100 | interkinetic nuclear migration (GO:0022027) | 2.72700949 |
| 101 | nuclear pore organization (GO:0006999) | 2.71995087 |
| 102 | regulation of DNA endoreduplication (GO:0032875) | 2.71993307 |
| 103 | negative regulation of DNA recombination (GO:0045910) | 2.71465037 |
| 104 | resolution of meiotic recombination intermediates (GO:0000712) | 2.71243410 |
| 105 | lactate metabolic process (GO:0006089) | 2.70453997 |
| 106 | left/right axis specification (GO:0070986) | 2.70420997 |
| 107 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.69484544 |
| 108 | microtubule polymerization or depolymerization (GO:0031109) | 2.68772071 |
| 109 | regulation of male gonad development (GO:2000018) | 2.67840825 |
| 110 | regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091 | 2.67318203 |
| 111 | * microtubule-based movement (GO:0007018) | 2.65890822 |
| 112 | phosphatidylethanolamine metabolic process (GO:0046337) | 2.65780066 |
| 113 | axoneme assembly (GO:0035082) | 2.65616503 |
| 114 | nonmotile primary cilium assembly (GO:0035058) | 2.65472381 |
| 115 | centrosome organization (GO:0051297) | 2.65038575 |
| 116 | cilium morphogenesis (GO:0060271) | 2.64538737 |
| 117 | DNA replication checkpoint (GO:0000076) | 2.63811882 |
| 118 | negative regulation of DNA-dependent DNA replication (GO:2000104) | 2.63079723 |
| 119 | positive regulation of smoothened signaling pathway (GO:0045880) | 2.62132794 |
| 120 | negative regulation of cytosolic calcium ion concentration (GO:0051481) | 2.61709049 |
| 121 | reciprocal DNA recombination (GO:0035825) | 2.61444636 |
| 122 | reciprocal meiotic recombination (GO:0007131) | 2.61444636 |
| 123 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 2.61031221 |
| 124 | cytoplasmic mRNA processing body assembly (GO:0033962) | 2.60745228 |
| 125 | DNA methylation or demethylation (GO:0044728) | 2.60594488 |
| 126 | gene silencing (GO:0016458) | 2.60592041 |
| 127 | olfactory bulb development (GO:0021772) | 2.59954015 |
| 128 | positive regulation of glycolytic process (GO:0045821) | 2.59327960 |
| 129 | C4-dicarboxylate transport (GO:0015740) | 2.58138680 |
| 130 | kidney morphogenesis (GO:0060993) | 2.57648694 |
| 131 | negative regulation of sodium ion transport (GO:0010766) | 2.57314272 |
| 132 | regulation of protein polyubiquitination (GO:1902914) | 2.56977806 |
| 133 | regulation of non-canonical Wnt signaling pathway (GO:2000050) | 2.56716339 |
| 134 | peptidyl-lysine trimethylation (GO:0018023) | 2.56714122 |
| 135 | regulation of cell communication by electrical coupling (GO:0010649) | 2.56201989 |
| 136 | protein polyglutamylation (GO:0018095) | 2.55570723 |
| 137 | kinetochore organization (GO:0051383) | 2.54695377 |
| 138 | positive regulation of mRNA processing (GO:0050685) | 2.52899910 |
| 139 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 2.51683672 |
| 140 | double-strand break repair via homologous recombination (GO:0000724) | 2.51399893 |
| 141 | sister chromatid segregation (GO:0000819) | 2.48625909 |
| 142 | retinal cone cell development (GO:0046549) | 2.47759495 |
| 143 | regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095) | 2.47181306 |
| 144 | recombinational repair (GO:0000725) | 2.47167218 |
| 145 | protein K11-linked deubiquitination (GO:0035871) | 2.46724037 |
| 146 | regulation of hippo signaling (GO:0035330) | 2.46663688 |
| 147 | photoreceptor cell maintenance (GO:0045494) | 2.46234136 |
| 148 | protein K6-linked ubiquitination (GO:0085020) | 2.46200264 |
| 149 | regulation of establishment of cell polarity (GO:2000114) | 2.46090077 |
| 150 | keratinocyte development (GO:0003334) | 2.45653066 |
| 151 | retinal rod cell development (GO:0046548) | 2.44933143 |
| 152 | calcium ion-dependent exocytosis (GO:0017156) | 2.44778738 |
| 153 | * smoothened signaling pathway (GO:0007224) | 2.44690846 |
| 154 | N-terminal protein amino acid acetylation (GO:0006474) | 2.44593626 |
| 155 | mRNA splice site selection (GO:0006376) | 2.43948028 |
| 156 | male sex determination (GO:0030238) | 2.43272943 |
| 157 | head development (GO:0060322) | 2.43238196 |
| 158 | regulation of protein glycosylation (GO:0060049) | 2.42481838 |
| 159 | stress granule assembly (GO:0034063) | 2.42291361 |
| 160 | histone exchange (GO:0043486) | 2.42187917 |
| 161 | multicellular organismal reproductive process (GO:0048609) | 2.41452228 |
| 162 | histone H3-K9 methylation (GO:0051567) | 2.41402616 |
| 163 | poly(A)+ mRNA export from nucleus (GO:0016973) | 2.40769363 |
| 164 | protein localization to Golgi apparatus (GO:0034067) | 2.40659602 |
| 165 | positive regulation of meiosis (GO:0045836) | 2.40533133 |
| 166 | glial cell proliferation (GO:0014009) | 2.38537610 |
| 167 | regulation of mRNA 3-end processing (GO:0031440) | 2.37576951 |
| 168 | regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510) | 2.35064402 |
| 169 | maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005) | 2.34318834 |
| 170 | regulation of acyl-CoA biosynthetic process (GO:0050812) | 2.33508713 |
| 171 | chromatin remodeling at centromere (GO:0031055) | 2.33456201 |
| 172 | regulation of growth hormone secretion (GO:0060123) | 2.33383732 |
| 173 | phosphorelay signal transduction system (GO:0000160) | 2.33025577 |
| 174 | embryonic axis specification (GO:0000578) | 2.30922867 |
| 175 | cilium or flagellum-dependent cell motility (GO:0001539) | 10.6779040 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 5.71514317 |
| 2 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 5.65339390 |
| 3 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 3.35645208 |
| 4 | GBX2_23144817_ChIP-Seq_PC3_Human | 3.01889127 |
| 5 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.85745140 |
| 6 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.80587589 |
| 7 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 2.73737377 |
| 8 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 2.54278900 |
| 9 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.30840132 |
| 10 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.26119275 |
| 11 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 2.24060784 |
| 12 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.21490410 |
| 13 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 2.19404939 |
| 14 | * ZFP57_27257070_Chip-Seq_ESCs_Mouse | 2.10781766 |
| 15 | * FUS_26573619_Chip-Seq_HEK293_Human | 2.08648690 |
| 16 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.07528909 |
| 17 | * CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.99081462 |
| 18 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.98640680 |
| 19 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.95538806 |
| 20 | * SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.95208477 |
| 21 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.87603521 |
| 22 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.81501849 |
| 23 | * E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.77237056 |
| 24 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.76500586 |
| 25 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.76277319 |
| 26 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.66469479 |
| 27 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.66375820 |
| 28 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.66375820 |
| 29 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.65731614 |
| 30 | E2F7_22180533_ChIP-Seq_HELA_Human | 1.62025305 |
| 31 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.60204543 |
| 32 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.59887336 |
| 33 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.59714602 |
| 34 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.58836162 |
| 35 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.58559528 |
| 36 | EWS_26573619_Chip-Seq_HEK293_Human | 1.58064712 |
| 37 | * EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.56334966 |
| 38 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.55396274 |
| 39 | P300_19829295_ChIP-Seq_ESCs_Human | 1.53639838 |
| 40 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.53390750 |
| 41 | TCF4_23295773_ChIP-Seq_U87_Human | 1.51196219 |
| 42 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.47236152 |
| 43 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.46483650 |
| 44 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.44793754 |
| 45 | * P53_22387025_ChIP-Seq_ESCs_Mouse | 1.43752840 |
| 46 | VDR_22108803_ChIP-Seq_LS180_Human | 1.43309116 |
| 47 | * TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse | 1.42987174 |
| 48 | STAT3_23295773_ChIP-Seq_U87_Human | 1.42857883 |
| 49 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.41604097 |
| 50 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.40814575 |
| 51 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 1.39112375 |
| 52 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.38579968 |
| 53 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.37386113 |
| 54 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.36890923 |
| 55 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.35215881 |
| 56 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.35171637 |
| 57 | * SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.35069786 |
| 58 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.34636984 |
| 59 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.34332567 |
| 60 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.33354673 |
| 61 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.33030954 |
| 62 | * E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.32218247 |
| 63 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.30175678 |
| 64 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.29794460 |
| 65 | * SOX9_26525672_Chip-Seq_HEART_Mouse | 1.29570671 |
| 66 | * KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.29337396 |
| 67 | * CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.27776246 |
| 68 | FOXM1_26456572_ChIP-Seq_MCF-7_Human | 1.27154543 |
| 69 | * EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.26936955 |
| 70 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.26630351 |
| 71 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.25444755 |
| 72 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.25444415 |
| 73 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.24957200 |
| 74 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.24370404 |
| 75 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.23864819 |
| 76 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 1.23257659 |
| 77 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.23243460 |
| 78 | * PADI4_21655091_ChIP-ChIP_MCF-7_Human | 1.22428287 |
| 79 | * STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.20912391 |
| 80 | KDM2B_26808549_Chip-Seq_REH_Human | 1.19802749 |
| 81 | * OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.18965925 |
| 82 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.18668621 |
| 83 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.18668621 |
| 84 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.17952620 |
| 85 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.17871850 |
| 86 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.16856704 |
| 87 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.14800921 |
| 88 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.14393556 |
| 89 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.10284415 |
| 90 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.10260012 |
| 91 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.09296430 |
| 92 | * CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.09094655 |
| 93 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.09007035 |
| 94 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.08384832 |
| 95 | * UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.08168344 |
| 96 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.07687106 |
| 97 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.05923596 |
| 98 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 1.04968398 |
| 99 | * SOX2_21211035_ChIP-Seq_LN229_Gbm | 1.04503462 |
| 100 | * CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse | 1.04493485 |
| 101 | TP53_16413492_ChIP-PET_HCT116_Human | 1.04357002 |
| 102 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.04154179 |
| 103 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.04034060 |
| 104 | * NMYC_18555785_Chip-Seq_ESCs_Mouse | 1.03515378 |
| 105 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.02394520 |
| 106 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.02300483 |
| 107 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.02105645 |
| 108 | * PU1_27457419_Chip-Seq_LIVER_Mouse | 1.02042095 |
| 109 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.01981492 |
| 110 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.01757995 |
| 111 | SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse | 1.01737664 |
| 112 | STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse | 1.01710946 |
| 113 | CDX2_22108803_ChIP-Seq_LS180_Human | 1.01652645 |
| 114 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.01256208 |
| 115 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.00068459 |
| 116 | TCF4_22108803_ChIP-Seq_LS180_Human | 0.99992283 |
| 117 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 0.99909051 |
| 118 | * RUNX1_27457419_Chip-Seq_LIVER_Mouse | 0.98790074 |
| 119 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 0.98244331 |
| 120 | * ZFX_18555785_Chip-Seq_ESCs_Mouse | 0.97603888 |
| 121 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 0.97289061 |
| 122 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 0.95316673 |
| 123 | AR_25329375_ChIP-Seq_VCAP_Human | 0.93855164 |
| 124 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 0.93072537 |
| 125 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 0.93050046 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 5.97237650 |
| 2 | MP0008877_abnormal_DNA_methylation | 5.85010359 |
| 3 | MP0003698_abnormal_male_reproductive | 3.16691170 |
| 4 | MP0004043_abnormal_pH_regulation | 3.04430845 |
| 5 | MP0001929_abnormal_gametogenesis | 3.00416417 |
| 6 | MP0003787_abnormal_imprinting | 2.81123993 |
| 7 | MP0002210_abnormal_sex_determination | 2.63148352 |
| 8 | MP0000569_abnormal_digit_pigmentation | 2.60696684 |
| 9 | MP0008057_abnormal_DNA_replication | 2.40492719 |
| 10 | MP0010094_abnormal_chromosome_stability | 2.16402352 |
| 11 | MP0001145_abnormal_male_reproductive | 2.14803509 |
| 12 | MP0001188_hyperpigmentation | 2.10252679 |
| 13 | MP0003195_calcinosis | 1.97647033 |
| 14 | MP0005623_abnormal_meninges_morphology | 1.92467628 |
| 15 | MP0000653_abnormal_sex_gland | 1.90088458 |
| 16 | MP0008058_abnormal_DNA_repair | 1.83997587 |
| 17 | MP0005171_absent_coat_pigmentation | 1.82575382 |
| 18 | MP0003121_genomic_imprinting | 1.77245306 |
| 19 | MP0008007_abnormal_cellular_replicative | 1.73931353 |
| 20 | MP0006292_abnormal_olfactory_placode | 1.69488823 |
| 21 | MP0002161_abnormal_fertility/fecundity | 1.66030487 |
| 22 | MP0005409_darkened_coat_color | 1.61408574 |
| 23 | MP0000015_abnormal_ear_pigmentation | 1.60094940 |
| 24 | MP0002090_abnormal_vision | 1.57822912 |
| 25 | MP0002102_abnormal_ear_morphology | 1.56470061 |
| 26 | MP0000566_synostosis | 1.53944438 |
| 27 | MP0004145_abnormal_muscle_electrophysio | 1.50969418 |
| 28 | MP0002938_white_spotting | 1.48123505 |
| 29 | MP0001293_anophthalmia | 1.45648925 |
| 30 | MP0004134_abnormal_chest_morphology | 1.44475202 |
| 31 | MP0002009_preneoplasia | 1.42093720 |
| 32 | MP0000631_abnormal_neuroendocrine_gland | 1.40208706 |
| 33 | MP0005187_abnormal_penis_morphology | 1.37600852 |
| 34 | MP0003385_abnormal_body_wall | 1.37383276 |
| 35 | MP0003786_premature_aging | 1.36456397 |
| 36 | MP0003122_maternal_imprinting | 1.34551977 |
| 37 | MP0003942_abnormal_urinary_system | 1.34016344 |
| 38 | MP0000778_abnormal_nervous_system | 1.32350428 |
| 39 | MP0005646_abnormal_pituitary_gland | 1.31846523 |
| 40 | MP0008789_abnormal_olfactory_epithelium | 1.30235930 |
| 41 | MP0005248_abnormal_Harderian_gland | 1.26418901 |
| 42 | MP0002751_abnormal_autonomic_nervous | 1.25064251 |
| 43 | MP0002160_abnormal_reproductive_system | 1.24919448 |
| 44 | MP0005253_abnormal_eye_physiology | 1.24722675 |
| 45 | MP0009780_abnormal_chondrocyte_physiolo | 1.22070534 |
| 46 | MP0009703_decreased_birth_body | 1.20941389 |
| 47 | MP0005503_abnormal_tendon_morphology | 1.18541964 |
| 48 | MP0003890_abnormal_embryonic-extraembry | 1.18170682 |
| 49 | MP0005551_abnormal_eye_electrophysiolog | 1.16831982 |
| 50 | MP0005391_vision/eye_phenotype | 1.16389501 |
| 51 | MP0000537_abnormal_urethra_morphology | 1.13872185 |
| 52 | MP0006054_spinal_hemorrhage | 1.13353891 |
| 53 | MP0003123_paternal_imprinting | 1.10799264 |
| 54 | MP0002653_abnormal_ependyma_morphology | 1.10583214 |
| 55 | MP0005174_abnormal_tail_pigmentation | 1.07956405 |
| 56 | MP0004215_abnormal_myocardial_fiber | 1.07339168 |
| 57 | MP0002282_abnormal_trachea_morphology | 1.07241154 |
| 58 | MP0005499_abnormal_olfactory_system | 1.07229725 |
| 59 | MP0005394_taste/olfaction_phenotype | 1.07229725 |
| 60 | MP0003937_abnormal_limbs/digits/tail_de | 1.06505791 |
| 61 | MP0002234_abnormal_pharynx_morphology | 1.06413498 |
| 62 | MP0000647_abnormal_sebaceous_gland | 1.06148905 |
| 63 | MP0004808_abnormal_hematopoietic_stem | 1.05523536 |
| 64 | MP0008995_early_reproductive_senescence | 1.05149717 |
| 65 | MP0003646_muscle_fatigue | 1.04566665 |
| 66 | MP0001486_abnormal_startle_reflex | 1.04054766 |
| 67 | MP0005408_hypopigmentation | 1.03763214 |
| 68 | MP0002233_abnormal_nose_morphology | 1.03689356 |
| 69 | MP0005084_abnormal_gallbladder_morpholo | 1.01338437 |
| 70 | MP0004197_abnormal_fetal_growth/weight/ | 1.00551617 |
| 71 | MP0001286_abnormal_eye_development | 1.00485492 |
| 72 | MP0001324_abnormal_eye_pigmentation | 0.99747577 |
| 73 | MP0003880_abnormal_central_pattern | 0.96535151 |
| 74 | MP0004885_abnormal_endolymph | 0.95874850 |
| 75 | MP0001299_abnormal_eye_distance/ | 0.95852548 |
| 76 | MP0000427_abnormal_hair_cycle | 0.95662647 |
| 77 | MP0002092_abnormal_eye_morphology | 0.95449521 |
| 78 | MP0003950_abnormal_plasma_membrane | 0.94514927 |
| 79 | MP0009250_abnormal_appendicular_skeleto | 0.94143355 |
| 80 | MP0003115_abnormal_respiratory_system | 0.93793458 |
| 81 | MP0001529_abnormal_vocalization | 0.93559955 |
| 82 | MP0003935_abnormal_craniofacial_develop | 0.93492560 |
| 83 | MP0006072_abnormal_retinal_apoptosis | 0.93359642 |
| 84 | MP0000383_abnormal_hair_follicle | 0.92412589 |
| 85 | MP0003111_abnormal_nucleus_morphology | 0.91879103 |
| 86 | MP0001177_atelectasis | 0.91813116 |
| 87 | MP0001986_abnormal_taste_sensitivity | 0.91685699 |
| 88 | MP0009697_abnormal_copulation | 0.91652981 |
| 89 | MP0003878_abnormal_ear_physiology | 0.91081416 |
| 90 | MP0005377_hearing/vestibular/ear_phenot | 0.91081416 |
| 91 | MP0002638_abnormal_pupillary_reflex | 0.90380316 |
| 92 | MP0002249_abnormal_larynx_morphology | 0.90079915 |
| 93 | MP0010030_abnormal_orbit_morphology | 0.89377687 |
| 94 | MP0003011_delayed_dark_adaptation | 0.87629857 |
| 95 | MP0000049_abnormal_middle_ear | 0.87219424 |
| 96 | MP0005645_abnormal_hypothalamus_physiol | 0.86804378 |
| 97 | * MP0003861_abnormal_nervous_system | 0.86313574 |
| 98 | MP0000372_irregular_coat_pigmentation | 0.86069977 |
| 99 | MP0001984_abnormal_olfaction | 0.85963316 |
| 100 | MP0002116_abnormal_craniofacial_bone | 0.85066584 |
| 101 | MP0003567_abnormal_fetal_cardiomyocyte | 0.84674022 |
| 102 | MP0002177_abnormal_outer_ear | 0.84303104 |
| 103 | MP0004084_abnormal_cardiac_muscle | 0.84285316 |
| 104 | MP0001346_abnormal_lacrimal_gland | 0.83891600 |
| 105 | MP0009046_muscle_twitch | 0.83770450 |
| 106 | MP0000678_abnormal_parathyroid_gland | 0.82569951 |
| 107 | MP0005389_reproductive_system_phenotype | 0.82027553 |
| 108 | MP0002095_abnormal_skin_pigmentation | 0.81897225 |
| 109 | MP0004484_altered_response_of | 0.81637249 |
| 110 | MP0002697_abnormal_eye_size | 0.81118475 |
| 111 | MP0008932_abnormal_embryonic_tissue | 0.78883054 |
| 112 | MP0000432_abnormal_head_morphology | 0.78240092 |
| 113 | MP0004233_abnormal_muscle_weight | 0.77488695 |
| 114 | MP0004957_abnormal_blastocyst_morpholog | 0.77466775 |
| 115 | MP0002229_neurodegeneration | 0.76463156 |
| 116 | MP0003755_abnormal_palate_morphology | 0.75283320 |
| 117 | MP0004142_abnormal_muscle_tone | 0.74599747 |
| 118 | MP0002067_abnormal_sensory_capabilities | 0.74025422 |
| 119 | MP0002557_abnormal_social/conspecific_i | 0.73834612 |
| 120 | MP0005423_abnormal_somatic_nervous | 0.72758327 |
| 121 | MP0010678_abnormal_skin_adnexa | 0.72512286 |
| 122 | MP0004133_heterotaxia | 0.71857898 |
| 123 | MP0002272_abnormal_nervous_system | 0.71218344 |
| 124 | MP0002752_abnormal_somatic_nervous | 0.70958527 |
| 125 | * MP0002114_abnormal_axial_skeleton | 0.70467551 |
| 126 | MP0009672_abnormal_birth_weight | 0.70110961 |
| 127 | MP0005386_behavior/neurological_phenoty | 0.69981552 |
| 128 | MP0004924_abnormal_behavior | 0.69981552 |
| 129 | MP0003119_abnormal_digestive_system | 0.69928481 |
| 130 | MP0003252_abnormal_bile_duct | 0.68997327 |
| 131 | MP0000955_abnormal_spinal_cord | 0.68982252 |
| 132 | MP0009745_abnormal_behavioral_response | 0.68726040 |
| 133 | MP0001485_abnormal_pinna_reflex | 0.67681832 |
| 134 | * MP0002109_abnormal_limb_morphology | 0.66941198 |
| 135 | MP0002084_abnormal_developmental_patter | 0.66927646 |
| 136 | MP0002184_abnormal_innervation | 0.66889430 |
| 137 | MP0003136_yellow_coat_color | 0.66883544 |
| 138 | MP0003077_abnormal_cell_cycle | 0.66614407 |
| 139 | MP0000026_abnormal_inner_ear | 0.66454719 |
| 140 | MP0005195_abnormal_posterior_eye | 0.66205099 |
| 141 | MP0002928_abnormal_bile_duct | 0.65741486 |
| 142 | MP0001119_abnormal_female_reproductive | 0.65454759 |
| 143 | MP0003938_abnormal_ear_development | 0.64446714 |
| 144 | MP0003943_abnormal_hepatobiliary_system | 0.64260309 |
| 145 | * MP0002152_abnormal_brain_morphology | 0.64207134 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 8.08441532 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 7.49875090 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 7.49875090 |
| 4 | Abnormal respiratory motile cilium physiology (HP:0012261) | 5.74165400 |
| 5 | Abnormal respiratory motile cilium morphology (HP:0005938) | 5.32911397 |
| 6 | Abnormal respiratory epithelium morphology (HP:0012253) | 5.32911397 |
| 7 | Abnormal ciliary motility (HP:0012262) | 5.00598353 |
| 8 | Rhinitis (HP:0012384) | 4.54872665 |
| 9 | Tubulointerstitial nephritis (HP:0001970) | 4.41844599 |
| 10 | * Nephronophthisis (HP:0000090) | 4.08469064 |
| 11 | Chronic bronchitis (HP:0004469) | 3.69396045 |
| 12 | * Abnormality of the renal medulla (HP:0100957) | 3.40463034 |
| 13 | Fibular hypoplasia (HP:0003038) | 3.33431221 |
| 14 | Intestinal atresia (HP:0011100) | 3.29437708 |
| 15 | Papillary thyroid carcinoma (HP:0002895) | 3.22843664 |
| 16 | Hyperventilation (HP:0002883) | 3.04298287 |
| 17 | Molar tooth sign on MRI (HP:0002419) | 3.01526584 |
| 18 | Abnormality of midbrain morphology (HP:0002418) | 3.01526584 |
| 19 | Bronchiectasis (HP:0002110) | 3.01488231 |
| 20 | Chronic hepatic failure (HP:0100626) | 3.00219702 |
| 21 | Infertility (HP:0000789) | 2.99432111 |
| 22 | Gonadotropin excess (HP:0000837) | 2.87122921 |
| 23 | * Postaxial foot polydactyly (HP:0001830) | 2.86300948 |
| 24 | Pancreatic islet-cell hyperplasia (HP:0004510) | 2.83157207 |
| 25 | Abnormality of the lower motor neuron (HP:0002366) | 2.81406149 |
| 26 | Hepatoblastoma (HP:0002884) | 2.72816160 |
| 27 | Renal cortical cysts (HP:0000803) | 2.61511726 |
| 28 | Medial flaring of the eyebrow (HP:0010747) | 2.59358078 |
| 29 | Anterior segment dysgenesis (HP:0007700) | 2.54075633 |
| 30 | Tubulointerstitial abnormality (HP:0001969) | 2.51157468 |
| 31 | Aplasia/Hypoplasia of the fibula (HP:0006492) | 2.49662200 |
| 32 | Aqueductal stenosis (HP:0002410) | 2.48286047 |
| 33 | Facial cleft (HP:0002006) | 2.45995962 |
| 34 | Absent frontal sinuses (HP:0002688) | 2.37915160 |
| 35 | Colon cancer (HP:0003003) | 2.36003448 |
| 36 | Selective tooth agenesis (HP:0001592) | 2.35954175 |
| 37 | Abnormality of dentin (HP:0010299) | 2.34937684 |
| 38 | Abnormal spermatogenesis (HP:0008669) | 2.34934121 |
| 39 | Median cleft lip (HP:0000161) | 2.30340875 |
| 40 | Drooling (HP:0002307) | 2.30040760 |
| 41 | Poor coordination (HP:0002370) | 2.28485396 |
| 42 | Nasal polyposis (HP:0100582) | 2.27251781 |
| 43 | Hyperinsulinemic hypoglycemia (HP:0000825) | 2.27164232 |
| 44 | Chromsome breakage (HP:0040012) | 2.26426439 |
| 45 | Bronchitis (HP:0012387) | 2.25052695 |
| 46 | Renal dysplasia (HP:0000110) | 2.24869824 |
| 47 | Abnormality of the labia minora (HP:0012880) | 2.24564789 |
| 48 | 11 pairs of ribs (HP:0000878) | 2.24011050 |
| 49 | Thyroid carcinoma (HP:0002890) | 2.22853798 |
| 50 | Pancreatic fibrosis (HP:0100732) | 2.21176341 |
| 51 | Astrocytoma (HP:0009592) | 2.20430997 |
| 52 | Abnormality of the astrocytes (HP:0100707) | 2.20430997 |
| 53 | Amyotrophic lateral sclerosis (HP:0007354) | 2.19875651 |
| 54 | Congenital hepatic fibrosis (HP:0002612) | 2.19348070 |
| 55 | Ectopic kidney (HP:0000086) | 2.18905069 |
| 56 | Fair hair (HP:0002286) | 2.15680732 |
| 57 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.14169675 |
| 58 | Glioma (HP:0009733) | 2.14096557 |
| 59 | Febrile seizures (HP:0002373) | 2.11358818 |
| 60 | Abnormality of the renal cortex (HP:0011035) | 2.09017081 |
| 61 | Azoospermia (HP:0000027) | 2.09002045 |
| 62 | Nephroblastoma (Wilms tumor) (HP:0002667) | 2.07993499 |
| 63 | True hermaphroditism (HP:0010459) | 2.06302423 |
| 64 | Abnormality of the parathyroid morphology (HP:0011766) | 2.05943053 |
| 65 | Sloping forehead (HP:0000340) | 2.04620050 |
| 66 | Supernumerary spleens (HP:0009799) | 2.04532322 |
| 67 | Cupped ear (HP:0000378) | 2.04268545 |
| 68 | Protruding tongue (HP:0010808) | 2.02153965 |
| 69 | Rhabdomyosarcoma (HP:0002859) | 2.01762703 |
| 70 | Excessive salivation (HP:0003781) | 2.01237434 |
| 71 | Preaxial hand polydactyly (HP:0001177) | 2.01156164 |
| 72 | Hypoglycemic seizures (HP:0002173) | 2.00967409 |
| 73 | Microglossia (HP:0000171) | 2.00829548 |
| 74 | Abnormality of the ileum (HP:0001549) | 2.00094052 |
| 75 | * Postaxial hand polydactyly (HP:0001162) | 2.00049250 |
| 76 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.99163353 |
| 77 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 1.98433985 |
| 78 | Embryonal renal neoplasm (HP:0011794) | 1.97547897 |
| 79 | Abnormality of molar morphology (HP:0011070) | 1.97248121 |
| 80 | Abnormality of molar (HP:0011077) | 1.97248121 |
| 81 | Tubular atrophy (HP:0000092) | 1.97088813 |
| 82 | Meckel diverticulum (HP:0002245) | 1.96760379 |
| 83 | Oligodactyly (hands) (HP:0001180) | 1.94753226 |
| 84 | Cystic liver disease (HP:0006706) | 1.94722118 |
| 85 | Renovascular hypertension (HP:0100817) | 1.94518304 |
| 86 | Atonic seizures (HP:0010819) | 1.94382340 |
| 87 | Abnormality of the phalanges of the hallux (HP:0010057) | 1.94377075 |
| 88 | Hypothermia (HP:0002045) | 1.93614467 |
| 89 | Neoplasm of the adrenal cortex (HP:0100641) | 1.93507143 |
| 90 | Hypoglycemic coma (HP:0001325) | 1.91977139 |
| 91 | Abnormality of permanent molar morphology (HP:0011071) | 1.91218481 |
| 92 | Abnormality of the dental root (HP:0006486) | 1.91218481 |
| 93 | Taurodontia (HP:0000679) | 1.91218481 |
| 94 | Bell-shaped thorax (HP:0001591) | 1.90624028 |
| 95 | Broad-based gait (HP:0002136) | 1.89775930 |
| 96 | Abnormality of chromosome stability (HP:0003220) | 1.88200964 |
| 97 | Absent speech (HP:0001344) | 1.87070716 |
| 98 | Absent eyebrow (HP:0002223) | 1.85944822 |
| 99 | Ependymoma (HP:0002888) | 1.85805942 |
| 100 | Medulloblastoma (HP:0002885) | 1.84607948 |
| 101 | * Stage 5 chronic kidney disease (HP:0003774) | 1.82317809 |
| 102 | Type II lissencephaly (HP:0007260) | 1.81857126 |
| 103 | Congenital primary aphakia (HP:0007707) | 1.81573303 |
| 104 | Cone-shaped epiphyses of the phalanges of the hand (HP:0010230) | 1.80523806 |
| 105 | Gait imbalance (HP:0002141) | 1.80129596 |
| 106 | Labial hypoplasia (HP:0000066) | 1.78239186 |
| 107 | Midline defect of the nose (HP:0004122) | 1.78233649 |
| 108 | Abnormality of endocrine pancreas physiology (HP:0012093) | 1.78109579 |
| 109 | Abnormality of the pancreatic islet cells (HP:0006476) | 1.78109579 |
| 110 | Submucous cleft hard palate (HP:0000176) | 1.78107994 |
| 111 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 1.78080381 |
| 112 | Abnormal hair whorl (HP:0010721) | 1.77809428 |
| 113 | Anal stenosis (HP:0002025) | 1.77047616 |
| 114 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.76508928 |
| 115 | Abnormality of the nasal septum (HP:0000419) | 1.75322605 |
| 116 | Short tibia (HP:0005736) | 1.74427455 |
| 117 | Aplasia/Hypoplasia involving the sinuses (HP:0009120) | 1.72212430 |
| 118 | Abnormality of the dental pulp (HP:0006479) | 1.72211567 |
| 119 | Hypoplastic iliac wings (HP:0002866) | 1.70116047 |
| 120 | Retinal dysplasia (HP:0007973) | 1.69070111 |
| 121 | Dandy-Walker malformation (HP:0001305) | 1.69034149 |
| 122 | Abnormality of macular pigmentation (HP:0008002) | 1.67487034 |
| 123 | Recurrent otitis media (HP:0000403) | 1.66761230 |
| 124 | Neoplasm of the oral cavity (HP:0100649) | 1.65523298 |
| 125 | Nephrogenic diabetes insipidus (HP:0009806) | 1.65166606 |
| 126 | Prominent nasal bridge (HP:0000426) | 1.63863887 |
| 127 | Cutaneous finger syndactyly (HP:0010554) | 1.63642962 |
| 128 | Bile duct proliferation (HP:0001408) | 1.63615771 |
| 129 | Abnormal biliary tract physiology (HP:0012439) | 1.63615771 |
| 130 | Thyroiditis (HP:0100646) | 1.63228121 |
| 131 | Biliary tract neoplasm (HP:0100574) | 1.63078496 |
| 132 | Growth hormone deficiency (HP:0000824) | 1.62419179 |
| 133 | Genital tract atresia (HP:0001827) | 1.61996139 |
| 134 | Hypoplastic female external genitalia (HP:0012815) | 1.61063613 |
| 135 | Short foot (HP:0001773) | 1.60307679 |
| 136 | * Short ribs (HP:0000773) | 1.60268356 |
| 137 | Clitoromegaly (HP:0000057) | 1.59840702 |
| 138 | Decreased lacrimation (HP:0000633) | 1.59833813 |
| 139 | Short 4th metacarpal (HP:0010044) | 1.59730506 |
| 140 | Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042) | 1.59730506 |
| 141 | Optic nerve hypoplasia (HP:0000609) | 1.59298721 |
| 142 | Abnormality of the ischium (HP:0003174) | 1.58855846 |
| 143 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.58024924 |
| 144 | Vaginal atresia (HP:0000148) | 1.56600216 |
| 145 | Occipital encephalocele (HP:0002085) | 1.55734324 |
| 146 | Gaze-evoked nystagmus (HP:0000640) | 1.54321695 |
| 147 | Impulsivity (HP:0100710) | 1.51648778 |
| 148 | Abnormality of the epiphyses of the phalanges of the hand (HP:0005920) | 1.51635144 |
| 149 | Pancreatic cysts (HP:0001737) | 1.50153295 |
| 150 | Bifid tongue (HP:0010297) | 1.49820936 |
| 151 | Cone-rod dystrophy (HP:0000548) | 1.49687685 |
| 152 | Abnormality of the nasal mucosa (HP:0000433) | 1.48829526 |
| 153 | Pachygyria (HP:0001302) | 1.48565669 |
| 154 | Oculomotor apraxia (HP:0000657) | 1.48137112 |
| 155 | Cutaneous syndactyly (HP:0012725) | 1.48136848 |
| 156 | Progressive sensorineural hearing impairment (HP:0000408) | 1.47992732 |
| 157 | Astigmatism (HP:0000483) | 1.47698621 |
| 158 | Volvulus (HP:0002580) | 1.46846459 |
| 159 | Dental crowding (HP:0000678) | 1.45727042 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK4 | 6.28790594 |
| 2 | PDK3 | 6.28790594 |
| 3 | PDK2 | 3.29692664 |
| 4 | MAP4K2 | 3.18655209 |
| 5 | AKT3 | 2.82963223 |
| 6 | CASK | 2.51608844 |
| 7 | BRD4 | 2.42728055 |
| 8 | BRSK2 | 2.32276116 |
| 9 | TRIM28 | 2.01732643 |
| 10 | ACVR1B | 1.99045714 |
| 11 | CDC7 | 1.97859411 |
| 12 | CCNB1 | 1.97206708 |
| 13 | WNK4 | 1.85470947 |
| 14 | PASK | 1.81183444 |
| 15 | NUAK1 | 1.80608192 |
| 16 | NTRK3 | 1.78209661 |
| 17 | IRAK2 | 1.77255155 |
| 18 | PTK2B | 1.73762892 |
| 19 | IRAK1 | 1.70556128 |
| 20 | STK39 | 1.70472195 |
| 21 | ATR | 1.61347288 |
| 22 | CDK12 | 1.53772999 |
| 23 | NEK2 | 1.48010253 |
| 24 | ICK | 1.45260451 |
| 25 | MAP3K4 | 1.44787575 |
| 26 | TTK | 1.43631532 |
| 27 | PRKD3 | 1.41553527 |
| 28 | BMPR1B | 1.38167440 |
| 29 | PNCK | 1.37717204 |
| 30 | OBSCN | 1.36650943 |
| 31 | FRK | 1.33661374 |
| 32 | STK3 | 1.33276197 |
| 33 | YES1 | 1.30167085 |
| 34 | TESK1 | 1.30150623 |
| 35 | WNK1 | 1.25395835 |
| 36 | MKNK1 | 1.24810175 |
| 37 | NLK | 1.24775368 |
| 38 | MKNK2 | 1.24556570 |
| 39 | LATS1 | 1.24392557 |
| 40 | CAMK1G | 1.23347116 |
| 41 | SGK2 | 1.19209638 |
| 42 | FGFR2 | 1.16234240 |
| 43 | PINK1 | 1.13849076 |
| 44 | MAP2K7 | 1.13015634 |
| 45 | ERBB3 | 1.11188710 |
| 46 | SRPK1 | 1.06694670 |
| 47 | CDK3 | 1.06177818 |
| 48 | ZAK | 1.04498795 |
| 49 | CDK9 | 1.02408424 |
| 50 | INSRR | 1.00228897 |
| 51 | PDGFRA | 0.98643765 |
| 52 | SIK3 | 0.98005120 |
| 53 | CDK8 | 0.95443259 |
| 54 | PIK3CG | 0.94043315 |
| 55 | CAMK1D | 0.93370734 |
| 56 | NEK1 | 0.92328528 |
| 57 | STK38L | 0.92287934 |
| 58 | CSNK1G1 | 0.92128890 |
| 59 | MAPK13 | 0.90445192 |
| 60 | PLK4 | 0.87725627 |
| 61 | ATM | 0.87206201 |
| 62 | CHEK1 | 0.86981431 |
| 63 | PDGFRB | 0.85339658 |
| 64 | CHEK2 | 0.84268241 |
| 65 | DYRK1B | 0.79839742 |
| 66 | EIF2AK2 | 0.79358085 |
| 67 | TSSK6 | 0.78702025 |
| 68 | SGK3 | 0.75715427 |
| 69 | FGFR3 | 0.74813734 |
| 70 | GRK1 | 0.74756421 |
| 71 | CDK7 | 0.74581049 |
| 72 | PAK3 | 0.73911916 |
| 73 | PBK | 0.72669036 |
| 74 | CSNK1A1L | 0.72557784 |
| 75 | PLK2 | 0.71427366 |
| 76 | LMTK2 | 0.71418053 |
| 77 | PLK3 | 0.69902174 |
| 78 | EEF2K | 0.69718575 |
| 79 | EIF2AK1 | 0.68591712 |
| 80 | VRK1 | 0.65673043 |
| 81 | SIK2 | 0.64309318 |
| 82 | PLK1 | 0.63695071 |
| 83 | CSNK1G2 | 0.63600246 |
| 84 | SGK223 | 0.62675805 |
| 85 | SGK494 | 0.62675805 |
| 86 | EPHA4 | 0.62045919 |
| 87 | EIF2AK3 | 0.61268376 |
| 88 | TNK2 | 0.57106241 |
| 89 | DYRK3 | 0.56782951 |
| 90 | OXSR1 | 0.55901620 |
| 91 | WNK3 | 0.55424430 |
| 92 | CSNK1G3 | 0.55333217 |
| 93 | EPHA3 | 0.54292611 |
| 94 | FGFR1 | 0.54114006 |
| 95 | MAP3K2 | 0.54080225 |
| 96 | NTRK2 | 0.54017306 |
| 97 | RPS6KB1 | 0.52540196 |
| 98 | TRPM7 | 0.52048573 |
| 99 | MAPK15 | 0.50247538 |
| 100 | PRKCE | 0.48111307 |
| 101 | FER | 0.47911914 |
| 102 | TNIK | 0.47154317 |
| 103 | RPS6KA4 | 0.47110422 |
| 104 | PRKAA2 | 0.46391306 |
| 105 | BRSK1 | 0.46174502 |
| 106 | PRKDC | 0.45069300 |
| 107 | CDK1 | 0.44814275 |
| 108 | PTK6 | 0.44516527 |
| 109 | PIK3CA | 0.44085282 |
| 110 | CAMK4 | 0.43043938 |
| 111 | STK38 | 0.41537074 |
| 112 | MELK | 0.41021345 |
| 113 | MARK1 | 0.39788195 |
| 114 | PRKG1 | 0.39776914 |
| 115 | WEE1 | 0.39582929 |
| 116 | DYRK1A | 0.39160102 |
| 117 | FLT3 | 0.38275196 |
| 118 | CAMKK2 | 0.37861457 |
| 119 | KSR1 | 0.37269504 |
| 120 | BCR | 0.36585093 |
| 121 | CSNK1E | 0.34444939 |
| 122 | CSNK1D | 0.34395440 |
| 123 | PRKAA1 | 0.34385250 |
| 124 | STK16 | 0.34180843 |
| 125 | MST4 | 0.32598025 |
| 126 | MAP2K4 | 0.32330984 |
| 127 | TGFBR1 | 0.31508987 |
| 128 | MAPK10 | 0.31246755 |
| 129 | ERBB4 | 0.30670634 |
| 130 | MAPK8 | 0.30452475 |
| 131 | GSK3B | 0.29848068 |
| 132 | MTOR | 0.29687799 |
| 133 | TAF1 | 0.26914361 |
| 134 | MUSK | 0.26496677 |
| 135 | PRKCG | 0.26441514 |
| 136 | SGK1 | 0.25401939 |
| 137 | NEK6 | 0.24949016 |
| 138 | AKT1 | 0.23856282 |
| 139 | PAK4 | 0.23756625 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 3.44477271 |
| 2 | Non-homologous end-joining_Homo sapiens_hsa03450 | 2.88137177 |
| 3 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.76824459 |
| 4 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 2.51582585 |
| 5 | Homologous recombination_Homo sapiens_hsa03440 | 2.45087189 |
| 6 | Basal transcription factors_Homo sapiens_hsa03022 | 2.29505580 |
| 7 | Mismatch repair_Homo sapiens_hsa03430 | 2.21884856 |
| 8 | Circadian rhythm_Homo sapiens_hsa04710 | 2.10525244 |
| 9 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 2.03918841 |
| 10 | Lysine degradation_Homo sapiens_hsa00310 | 2.01035090 |
| 11 | Nicotine addiction_Homo sapiens_hsa05033 | 1.99340361 |
| 12 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.91043728 |
| 13 | Phototransduction_Homo sapiens_hsa04744 | 1.86202055 |
| 14 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.79459729 |
| 15 | Cell cycle_Homo sapiens_hsa04110 | 1.78732814 |
| 16 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.78548042 |
| 17 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.76846380 |
| 18 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.75015834 |
| 19 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.74335389 |
| 20 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 1.65019376 |
| 21 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 1.59656232 |
| 22 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.59111973 |
| 23 | Taste transduction_Homo sapiens_hsa04742 | 1.52843268 |
| 24 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 1.52606708 |
| 25 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.50820713 |
| 26 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.49902909 |
| 27 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.49134954 |
| 28 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.48324236 |
| 29 | RNA degradation_Homo sapiens_hsa03018 | 1.48308351 |
| 30 | Protein export_Homo sapiens_hsa03060 | 1.45898989 |
| 31 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.43155717 |
| 32 | Basal cell carcinoma_Homo sapiens_hsa05217 | 1.29741952 |
| 33 | RNA transport_Homo sapiens_hsa03013 | 1.29564979 |
| 34 | Wnt signaling pathway_Homo sapiens_hsa04310 | 1.29328971 |
| 35 | Long-term potentiation_Homo sapiens_hsa04720 | 1.27061074 |
| 36 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.25086216 |
| 37 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.23703566 |
| 38 | Circadian entrainment_Homo sapiens_hsa04713 | 1.23173429 |
| 39 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.22561912 |
| 40 | Axon guidance_Homo sapiens_hsa04360 | 1.18764880 |
| 41 | ABC transporters_Homo sapiens_hsa02010 | 1.18674230 |
| 42 | Spliceosome_Homo sapiens_hsa03040 | 1.15915617 |
| 43 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 1.15470273 |
| 44 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.14856087 |
| 45 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.14790782 |
| 46 | DNA replication_Homo sapiens_hsa03030 | 1.14611544 |
| 47 | Renin secretion_Homo sapiens_hsa04924 | 1.10819806 |
| 48 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.07938440 |
| 49 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.05628361 |
| 50 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.04687670 |
| 51 | Alcoholism_Homo sapiens_hsa05034 | 1.02487716 |
| 52 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.01488664 |
| 53 | Olfactory transduction_Homo sapiens_hsa04740 | 1.00866759 |
| 54 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.00755132 |
| 55 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.00676890 |
| 56 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.97478756 |
| 57 | Peroxisome_Homo sapiens_hsa04146 | 0.96286292 |
| 58 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.95532831 |
| 59 | Insulin secretion_Homo sapiens_hsa04911 | 0.95381656 |
| 60 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.95294324 |
| 61 | Morphine addiction_Homo sapiens_hsa05032 | 0.95150137 |
| 62 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.93647515 |
| 63 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.93325535 |
| 64 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.92944585 |
| 65 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.91713475 |
| 66 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.90499389 |
| 67 | Cocaine addiction_Homo sapiens_hsa05030 | 0.87620613 |
| 68 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.87592012 |
| 69 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.87061360 |
| 70 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.85684325 |
| 71 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.84400577 |
| 72 | Base excision repair_Homo sapiens_hsa03410 | 0.82693555 |
| 73 | Adherens junction_Homo sapiens_hsa04520 | 0.82655380 |
| 74 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.81582910 |
| 75 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.81470865 |
| 76 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.80955203 |
| 77 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.80920277 |
| 78 | HTLV-I infection_Homo sapiens_hsa05166 | 0.80479753 |
| 79 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.80287341 |
| 80 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.79577487 |
| 81 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.79195232 |
| 82 | Melanoma_Homo sapiens_hsa05218 | 0.77236276 |
| 83 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.75670631 |
| 84 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.75657546 |
| 85 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.75437463 |
| 86 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.74815004 |
| 87 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.74747260 |
| 88 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.74113077 |
| 89 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.73624916 |
| 90 | Melanogenesis_Homo sapiens_hsa04916 | 0.73495268 |
| 91 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.72953463 |
| 92 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.71653179 |
| 93 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.71372092 |
| 94 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.70141342 |
| 95 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.68976722 |
| 96 | Prostate cancer_Homo sapiens_hsa05215 | 0.68005288 |
| 97 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.67730712 |
| 98 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.66544292 |
| 99 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.66445036 |
| 100 | Purine metabolism_Homo sapiens_hsa00230 | 0.66211333 |
| 101 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.64954564 |
| 102 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.64129595 |
| 103 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.63120463 |
| 104 | GABAergic synapse_Homo sapiens_hsa04727 | 0.63046760 |
| 105 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.62835144 |
| 106 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.62335880 |
| 107 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.61532369 |
| 108 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.61150834 |
| 109 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.60992905 |
| 110 | Small cell lung cancer_Homo sapiens_hsa05222 | 0.60695593 |
| 111 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.60303922 |
| 112 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.59759238 |
| 113 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.59635163 |
| 114 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.59343538 |
| 115 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.58812907 |
| 116 | Retinol metabolism_Homo sapiens_hsa00830 | 0.57968958 |
| 117 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.57212315 |
| 118 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.57211189 |
| 119 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.56640959 |
| 120 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.56539919 |
| 121 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.56424073 |
| 122 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.56114663 |
| 123 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.55780385 |
| 124 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.55522214 |
| 125 | Colorectal cancer_Homo sapiens_hsa05210 | 0.54811752 |
| 126 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.54618233 |
| 127 | Long-term depression_Homo sapiens_hsa04730 | 0.53733294 |
| 128 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.53558278 |
| 129 | Glioma_Homo sapiens_hsa05214 | 0.53355295 |
| 130 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.51818341 |
| 131 | Endometrial cancer_Homo sapiens_hsa05213 | 0.51753975 |
| 132 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.51673825 |
| 133 | Huntingtons disease_Homo sapiens_hsa05016 | 0.51546762 |
| 134 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.48080174 |
| 135 | Focal adhesion_Homo sapiens_hsa04510 | 0.47500903 |
| 136 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.47463372 |
| 137 | Pathways in cancer_Homo sapiens_hsa05200 | 0.47124437 |
| 138 | Histidine metabolism_Homo sapiens_hsa00340 | 0.47091976 |
| 139 | Salivary secretion_Homo sapiens_hsa04970 | 0.46582945 |
| 140 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.45545694 |
| 141 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.44951445 |
| 142 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.44594506 |
| 143 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.44148120 |
| 144 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.42710646 |
| 145 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.42693533 |
| 146 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.42470418 |
| 147 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.42095512 |
| 148 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.40244273 |
| 149 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.39411049 |
| 150 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.39295537 |

