

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.53438392 |
| 2 | DNA packaging (GO:0006323) | 9.42972684 |
| 3 | spermatid development (GO:0007286) | 9.14995445 |
| 4 | spermatid nucleus differentiation (GO:0007289) | 8.90996202 |
| 5 | single strand break repair (GO:0000012) | 8.79750314 |
| 6 | microtubule depolymerization (GO:0007019) | 8.00427161 |
| 7 | plasma membrane fusion (GO:0045026) | 7.71893007 |
| 8 | negative regulation of inclusion body assembly (GO:0090084) | 7.65634867 |
| 9 | sperm-egg recognition (GO:0035036) | 7.56493064 |
| 10 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 7.56305461 |
| 11 | response to pheromone (GO:0019236) | 7.51661680 |
| 12 | sexual reproduction (GO:0019953) | 7.46163560 |
| 13 | protein polyglutamylation (GO:0018095) | 7.41009483 |
| 14 | multicellular organism reproduction (GO:0032504) | 7.34784261 |
| 15 | rRNA methylation (GO:0031167) | 7.27838662 |
| 16 | reproduction (GO:0000003) | 7.12220558 |
| 17 | phosphatidylethanolamine metabolic process (GO:0046337) | 6.98048054 |
| 18 | binding of sperm to zona pellucida (GO:0007339) | 6.93997881 |
| 19 | microtubule severing (GO:0051013) | 6.78795588 |
| 20 | calcium ion-dependent exocytosis (GO:0017156) | 6.56577298 |
| 21 | axonemal dynein complex assembly (GO:0070286) | 6.27150113 |
| 22 | microtubule polymerization or depolymerization (GO:0031109) | 6.26651209 |
| 23 | protein targeting to Golgi (GO:0000042) | 6.22984676 |
| 24 | cell-cell recognition (GO:0009988) | 6.22612407 |
| 25 | rRNA modification (GO:0000154) | 6.15162277 |
| 26 | spermatogenesis (GO:0007283) | 6.09702629 |
| 27 | male gamete generation (GO:0048232) | 6.07596291 |
| 28 | cellular ketone body metabolic process (GO:0046950) | 6.02767926 |
| 29 | establishment of protein localization to Golgi (GO:0072600) | 5.96569645 |
| 30 | regulation of cilium movement (GO:0003352) | 5.91451427 |
| 31 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.81397640 |
| 32 | gamete generation (GO:0007276) | 5.56813250 |
| 33 | regulation of inclusion body assembly (GO:0090083) | 5.49320490 |
| 34 | ketone body metabolic process (GO:1902224) | 5.32122539 |
| 35 | RNA destabilization (GO:0050779) | 5.14779245 |
| 36 | germ cell development (GO:0007281) | 5.05346367 |
| 37 | single fertilization (GO:0007338) | 4.99399957 |
| 38 | motile cilium assembly (GO:0044458) | 4.91318075 |
| 39 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.85079600 |
| 40 | cell wall macromolecule catabolic process (GO:0016998) | 4.81727192 |
| 41 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.73139332 |
| 42 | centriole replication (GO:0007099) | 4.69432268 |
| 43 | positive regulation of Rab GTPase activity (GO:0032851) | 4.64046843 |
| 44 | regulation of Rab GTPase activity (GO:0032313) | 4.64046843 |
| 45 | chromatin silencing (GO:0006342) | 4.61790580 |
| 46 | nucleus organization (GO:0006997) | 4.53918613 |
| 47 | multicellular organismal reproductive process (GO:0048609) | 4.50252509 |
| 48 | cell wall macromolecule metabolic process (GO:0044036) | 4.47990128 |
| 49 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.47501655 |
| 50 | regulation of microtubule-based movement (GO:0060632) | 4.45378662 |
| 51 | protein localization to Golgi apparatus (GO:0034067) | 4.45371601 |
| 52 | centriole assembly (GO:0098534) | 4.31656924 |
| 53 | organic cation transport (GO:0015695) | 4.21780569 |
| 54 | polyamine biosynthetic process (GO:0006596) | 4.21499080 |
| 55 | epithelial cilium movement (GO:0003351) | 4.20141664 |
| 56 | fertilization (GO:0009566) | 4.09151030 |
| 57 | protein-DNA complex disassembly (GO:0032986) | 4.05037682 |
| 58 | nucleosome disassembly (GO:0006337) | 4.05037682 |
| 59 | response to acidic pH (GO:0010447) | 3.91529842 |
| 60 | regulation of centriole replication (GO:0046599) | 3.69308454 |
| 61 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.68696622 |
| 62 | cilium movement (GO:0003341) | 3.63354379 |
| 63 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.61969113 |
| 64 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.60344575 |
| 65 | cellular response to pH (GO:0071467) | 3.55295774 |
| 66 | multicellular organismal movement (GO:0050879) | 3.54403754 |
| 67 | musculoskeletal movement (GO:0050881) | 3.54403754 |
| 68 | homeostasis of number of cells within a tissue (GO:0048873) | 3.44478101 |
| 69 | coenzyme catabolic process (GO:0009109) | 3.42082112 |
| 70 | regulation of interleukin-13 production (GO:0032656) | 3.32535733 |
| 71 | cerebral cortex neuron differentiation (GO:0021895) | 3.32233467 |
| 72 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.31535811 |
| 73 | multicellular organismal development (GO:0007275) | 3.25723881 |
| 74 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.20605007 |
| 75 | mitochondrial fission (GO:0000266) | 3.18056202 |
| 76 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.14693214 |
| 77 | glycerol ether metabolic process (GO:0006662) | 3.14098416 |
| 78 | regulation of somitogenesis (GO:0014807) | 3.12492635 |
| 79 | seminiferous tubule development (GO:0072520) | 3.10530225 |
| 80 | cranial nerve morphogenesis (GO:0021602) | 3.10154799 |
| 81 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.07331865 |
| 82 | genitalia morphogenesis (GO:0035112) | 3.04202128 |
| 83 | DNA conformation change (GO:0071103) | 3.03110734 |
| 84 | histone H3-K9 demethylation (GO:0033169) | 3.02296309 |
| 85 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.02283400 |
| 86 | protein depolymerization (GO:0051261) | 2.98421785 |
| 87 | cell recognition (GO:0008037) | 2.97905420 |
| 88 | ether metabolic process (GO:0018904) | 2.89221679 |
| 89 | RNA localization (GO:0006403) | 2.85646805 |
| 90 | histone exchange (GO:0043486) | 2.82725105 |
| 91 | mitotic G1 DNA damage checkpoint (GO:0031571) | 2.79260553 |
| 92 | microtubule nucleation (GO:0007020) | 2.79053265 |
| 93 | cellular biogenic amine biosynthetic process (GO:0042401) | 2.73533829 |
| 94 | chaperone-mediated protein complex assembly (GO:0051131) | 2.73337608 |
| 95 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 2.72557642 |
| 96 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.71799034 |
| 97 | sperm motility (GO:0030317) | 12.6165818 |
| 98 | acrosome reaction (GO:0007340) | 12.4603028 |
| 99 | sperm capacitation (GO:0048240) | 10.1936771 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.1779011 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.81904966 |
| 2 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.51070422 |
| 3 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.46763621 |
| 4 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.35925029 |
| 5 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.35925029 |
| 6 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.30755015 |
| 7 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.25687309 |
| 8 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.18228539 |
| 9 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.15777623 |
| 10 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.12774953 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.06158680 |
| 12 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.06158680 |
| 13 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.05558521 |
| 14 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.95586369 |
| 15 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.95441797 |
| 16 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.92257294 |
| 17 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.89499830 |
| 18 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.89339675 |
| 19 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.86506699 |
| 20 | ERA_21632823_ChIP-Seq_H3396_Human | 1.86493605 |
| 21 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.85350294 |
| 22 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.83914037 |
| 23 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.78335603 |
| 24 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.74427487 |
| 25 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.71593678 |
| 26 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.71416671 |
| 27 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.69855486 |
| 28 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.69158559 |
| 29 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.68741994 |
| 30 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.67789053 |
| 31 | FUS_26573619_Chip-Seq_HEK293_Human | 1.65162875 |
| 32 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.64141015 |
| 33 | P68_20966046_ChIP-Seq_HELA_Human | 1.63255951 |
| 34 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.62500710 |
| 35 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.62128332 |
| 36 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.61673410 |
| 37 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.58424702 |
| 38 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.56456684 |
| 39 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.52095230 |
| 40 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.51955216 |
| 41 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.51045176 |
| 42 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.47775944 |
| 43 | P300_27268052_Chip-Seq_Bcells_Human | 1.44991144 |
| 44 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.43671763 |
| 45 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.42631615 |
| 46 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.42302191 |
| 47 | AR_25329375_ChIP-Seq_VCAP_Human | 1.41611157 |
| 48 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.40745477 |
| 49 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.40329704 |
| 50 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.39583810 |
| 51 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.38632322 |
| 52 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.37671304 |
| 53 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.37030911 |
| 54 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.36590975 |
| 55 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.34886817 |
| 56 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.34779396 |
| 57 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.34640479 |
| 58 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.34435299 |
| 59 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.34247883 |
| 60 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.33216351 |
| 61 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.32159059 |
| 62 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.31706641 |
| 63 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.31143884 |
| 64 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.30526345 |
| 65 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.30353515 |
| 66 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.29793251 |
| 67 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.29271379 |
| 68 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.26463946 |
| 69 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.24082452 |
| 70 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.21477578 |
| 71 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.19046693 |
| 72 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.16716141 |
| 73 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.14858528 |
| 74 | SA1_27219007_Chip-Seq_Bcells_Human | 1.13625933 |
| 75 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.13518816 |
| 76 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.13056751 |
| 77 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.12347918 |
| 78 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.12307590 |
| 79 | NFYB_21822215_ChIP-Seq_K562_Human | 1.11597100 |
| 80 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.11548453 |
| 81 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.09506693 |
| 82 | TBL1_22424771_ChIP-Seq_293T_Human | 1.08999261 |
| 83 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.07525807 |
| 84 | P300_19829295_ChIP-Seq_ESCs_Human | 1.06369853 |
| 85 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.06309847 |
| 86 | CSB_26484114_Chip-Seq_FIBROBLAST_Human | 1.05598128 |
| 87 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.05163094 |
| 88 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.04297929 |
| 89 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 1.04037060 |
| 90 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.03704195 |
| 91 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.03148147 |
| 92 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.01388366 |
| 93 | OCT4_19829295_ChIP-Seq_ESCs_Human | 1.00817506 |
| 94 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.00654043 |
| 95 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 0.98071685 |
| 96 | NFYA_21822215_ChIP-Seq_K562_Human | 0.97886052 |
| 97 | KLF4_19829295_ChIP-Seq_ESCs_Human | 0.97663977 |
| 98 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.96880093 |
| 99 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.96880093 |
| 100 | SOX11_22085726_ChIP-Seq_ESNs_Mouse | 0.96645252 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005670_abnormal_white_adipose | 5.43796193 |
| 2 | MP0003698_abnormal_male_reproductive | 4.76967099 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 4.76791577 |
| 4 | MP0003878_abnormal_ear_physiology | 4.76791577 |
| 5 | MP0001929_abnormal_gametogenesis | 4.17931535 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.03036431 |
| 7 | MP0002161_abnormal_fertility/fecundity | 2.73177656 |
| 8 | MP0000678_abnormal_parathyroid_gland | 2.39268632 |
| 9 | MP0003718_maternal_effect | 2.11138550 |
| 10 | MP0003646_muscle_fatigue | 2.08407522 |
| 11 | MP0005410_abnormal_fertilization | 13.1039542 |
| 12 | MP0002210_abnormal_sex_determination | 1.94182242 |
| 13 | MP0003011_delayed_dark_adaptation | 1.88626144 |
| 14 | MP0002132_abnormal_respiratory_system | 1.75845241 |
| 15 | MP0002234_abnormal_pharynx_morphology | 1.62224833 |
| 16 | MP0001145_abnormal_male_reproductive | 1.58360002 |
| 17 | MP0002249_abnormal_larynx_morphology | 1.54791800 |
| 18 | MP0005423_abnormal_somatic_nervous | 1.54106653 |
| 19 | MP0000653_abnormal_sex_gland | 1.50321079 |
| 20 | MP0002822_catalepsy | 1.43208311 |
| 21 | MP0001485_abnormal_pinna_reflex | 1.41547272 |
| 22 | MP0009053_abnormal_anal_canal | 1.35566822 |
| 23 | MP0005310_abnormal_salivary_gland | 1.30339695 |
| 24 | MP0005379_endocrine/exocrine_gland_phen | 1.29691483 |
| 25 | MP0002282_abnormal_trachea_morphology | 1.28210483 |
| 26 | MP0000534_abnormal_ureter_morphology | 1.27204592 |
| 27 | MP0004859_abnormal_synaptic_plasticity | 1.20181461 |
| 28 | MP0001486_abnormal_startle_reflex | 1.19835599 |
| 29 | MP0002138_abnormal_hepatobiliary_system | 1.15949240 |
| 30 | MP0002735_abnormal_chemical_nociception | 1.12732766 |
| 31 | MP0001765_abnormal_ion_homeostasis | 1.08487582 |
| 32 | MP0003879_abnormal_hair_cell | 1.06511771 |
| 33 | MP0009115_abnormal_fat_cell | 1.02640216 |
| 34 | MP0002127_abnormal_cardiovascular_syste | 1.02181650 |
| 35 | MP0005666_abnormal_adipose_tissue | 1.00104626 |
| 36 | MP0001963_abnormal_hearing_physiology | 1.00001261 |
| 37 | MP0001968_abnormal_touch/_nociception | 0.98836954 |
| 38 | MP0004742_abnormal_vestibular_system | 0.97742855 |
| 39 | MP0005395_other_phenotype | 0.96975780 |
| 40 | MP0005451_abnormal_body_composition | 0.92259513 |
| 41 | MP0008569_lethality_at_weaning | 0.87870351 |
| 42 | MP0000026_abnormal_inner_ear | 0.86781822 |
| 43 | MP0002229_neurodegeneration | 0.85346884 |
| 44 | MP0000955_abnormal_spinal_cord | 0.84779637 |
| 45 | MP0005248_abnormal_Harderian_gland | 0.84340479 |
| 46 | MP0008877_abnormal_DNA_methylation | 0.80209910 |
| 47 | MP0004510_myositis | 0.79699493 |
| 48 | MP0000681_abnormal_thyroid_gland | 0.77592985 |
| 49 | MP0005375_adipose_tissue_phenotype | 0.75515074 |
| 50 | MP0001905_abnormal_dopamine_level | 0.74673534 |
| 51 | MP0005083_abnormal_biliary_tract | 0.73818357 |
| 52 | MP0005551_abnormal_eye_electrophysiolog | 0.72585413 |
| 53 | MP0002557_abnormal_social/conspecific_i | 0.71685311 |
| 54 | MP0000049_abnormal_middle_ear | 0.71596284 |
| 55 | MP0002067_abnormal_sensory_capabilities | 0.71426591 |
| 56 | MP0001879_abnormal_lymphatic_vessel | 0.68510302 |
| 57 | MP0004085_abnormal_heartbeat | 0.59824790 |
| 58 | MP0005253_abnormal_eye_physiology | 0.59381010 |
| 59 | MP0003077_abnormal_cell_cycle | 0.57129542 |
| 60 | MP0005636_abnormal_mineral_homeostasis | 0.56946493 |
| 61 | MP0001666_abnormal_nutrient_absorption | 0.55722488 |
| 62 | MP0003699_abnormal_female_reproductive | 0.54547918 |
| 63 | MP0005367_renal/urinary_system_phenotyp | 0.54527265 |
| 64 | MP0000516_abnormal_urinary_system | 0.54527265 |
| 65 | MP0000613_abnormal_salivary_gland | 0.53527824 |
| 66 | MP0001270_distended_abdomen | 0.50210610 |
| 67 | MP0002272_abnormal_nervous_system | 0.48916553 |
| 68 | MP0000003_abnormal_adipose_tissue | 0.48841435 |
| 69 | MP0002733_abnormal_thermal_nociception | 0.48456587 |
| 70 | MP0005647_abnormal_sex_gland | 0.48455858 |
| 71 | MP0004484_altered_response_of | 0.46004896 |
| 72 | MP0002572_abnormal_emotion/affect_behav | 0.45750330 |
| 73 | MP0009745_abnormal_behavioral_response | 0.45428895 |
| 74 | MP0008961_abnormal_basal_metabolism | 0.44300321 |
| 75 | MP0001440_abnormal_grooming_behavior | 0.43729386 |
| 76 | MP0003091_abnormal_cell_migration | 0.43617532 |
| 77 | MP0010329_abnormal_lipoprotein_level | 0.42584724 |
| 78 | MP0009697_abnormal_copulation | 0.40942264 |
| 79 | MP0002734_abnormal_mechanical_nocicepti | 0.40119950 |
| 80 | MP0003631_nervous_system_phenotype | 0.39586111 |
| 81 | MP0000249_abnormal_blood_vessel | 0.39549444 |
| 82 | MP0001873_stomach_inflammation | 0.39077246 |
| 83 | MP0000470_abnormal_stomach_morphology | 0.38956948 |
| 84 | MP0003137_abnormal_impulse_conducting | 0.38925343 |
| 85 | MP0005535_abnormal_body_temperature | 0.38236250 |
| 86 | MP0002928_abnormal_bile_duct | 0.37696697 |
| 87 | MP0004036_abnormal_muscle_relaxation | 0.36892962 |
| 88 | MP0005084_abnormal_gallbladder_morpholo | 0.36736786 |
| 89 | MP0008995_early_reproductive_senescence | 0.35826790 |
| 90 | MP0003632_abnormal_nervous_system | 0.35249546 |
| 91 | MP0004233_abnormal_muscle_weight | 0.35158993 |
| 92 | MP0003119_abnormal_digestive_system | 0.34723364 |
| 93 | MP0001970_abnormal_pain_threshold | 0.34144277 |
| 94 | MP0003936_abnormal_reproductive_system | 0.33824156 |
| 95 | MP0003880_abnormal_central_pattern | 0.33234903 |
| 96 | MP0005408_hypopigmentation | 0.33106028 |
| 97 | MP0003959_abnormal_lean_body | 0.33102149 |
| 98 | MP0005167_abnormal_blood-brain_barrier | 0.32484572 |
| 99 | MP0001501_abnormal_sleep_pattern | 0.32061823 |
| 100 | MP0005623_abnormal_meninges_morphology | 0.31077847 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.38978183 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 6.00556180 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.00556180 |
| 4 | Tubulointerstitial nephritis (HP:0001970) | 5.61904024 |
| 5 | Hyperkalemia (HP:0002153) | 5.23146599 |
| 6 | Chronic hepatic failure (HP:0100626) | 5.12114609 |
| 7 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.09651859 |
| 8 | Attenuation of retinal blood vessels (HP:0007843) | 4.97335663 |
| 9 | Resting tremor (HP:0002322) | 4.77907379 |
| 10 | Asymmetric septal hypertrophy (HP:0001670) | 4.65658136 |
| 11 | Abnormal ciliary motility (HP:0012262) | 4.62721699 |
| 12 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.58630495 |
| 13 | Infertility (HP:0000789) | 4.47535601 |
| 14 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.47119786 |
| 15 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.47119786 |
| 16 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.44431124 |
| 17 | Nasal polyposis (HP:0100582) | 4.35646921 |
| 18 | Abnormality of macular pigmentation (HP:0008002) | 4.31446423 |
| 19 | Male infertility (HP:0003251) | 4.16672608 |
| 20 | Potter facies (HP:0002009) | 4.07244085 |
| 21 | Facial shape deformation (HP:0011334) | 4.07244085 |
| 22 | Bell-shaped thorax (HP:0001591) | 4.06747137 |
| 23 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.05288808 |
| 24 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.03543963 |
| 25 | Cone-rod dystrophy (HP:0000548) | 3.91375342 |
| 26 | Hypoalphalipoproteinemia (HP:0003233) | 3.55692852 |
| 27 | Abnormality of the nasal mucosa (HP:0000433) | 3.54687959 |
| 28 | Hypoplasia of the thymus (HP:0000778) | 3.49282363 |
| 29 | Progressive sensorineural hearing impairment (HP:0000408) | 3.43842557 |
| 30 | Azoospermia (HP:0000027) | 3.42554010 |
| 31 | Abnormal spermatogenesis (HP:0008669) | 3.39694013 |
| 32 | Impulsivity (HP:0100710) | 3.33085156 |
| 33 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.26766844 |
| 34 | Hypoplastic ischia (HP:0003175) | 3.20336006 |
| 35 | Postural instability (HP:0002172) | 3.18059517 |
| 36 | Unilateral renal agenesis (HP:0000122) | 3.06594147 |
| 37 | Menstrual irregularities (HP:0000858) | 3.05121086 |
| 38 | Enlarged epiphyses (HP:0010580) | 2.96364140 |
| 39 | Renovascular hypertension (HP:0100817) | 2.95765174 |
| 40 | Truncal obesity (HP:0001956) | 2.95145956 |
| 41 | Congenital malformation of the right heart (HP:0011723) | 2.92347071 |
| 42 | Double outlet right ventricle (HP:0001719) | 2.92347071 |
| 43 | Abnormality of the ischium (HP:0003174) | 2.86983676 |
| 44 | Abnormality of the aortic arch (HP:0012303) | 2.85940335 |
| 45 | Rhinitis (HP:0012384) | 2.85851383 |
| 46 | Abnormality of potassium homeostasis (HP:0011042) | 2.83444203 |
| 47 | Renal dysplasia (HP:0000110) | 2.82940365 |
| 48 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.79930020 |
| 49 | Abnormal urine output (HP:0012590) | 2.75146439 |
| 50 | Generalized aminoaciduria (HP:0002909) | 2.73883305 |
| 51 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.56480098 |
| 52 | Amelogenesis imperfecta (HP:0000705) | 2.55431391 |
| 53 | Progressive cerebellar ataxia (HP:0002073) | 2.53708766 |
| 54 | Nephronophthisis (HP:0000090) | 2.51959899 |
| 55 | Tubulointerstitial abnormality (HP:0001969) | 2.51681944 |
| 56 | Portal hypertension (HP:0001409) | 2.50898561 |
| 57 | Abnormality of renal excretion (HP:0011036) | 2.37509019 |
| 58 | Abnormality of the parathyroid morphology (HP:0011766) | 2.34191636 |
| 59 | Abnormality of the costochondral junction (HP:0000919) | 2.32856479 |
| 60 | Stage 5 chronic kidney disease (HP:0003774) | 2.32493168 |
| 61 | Abnormality of dental color (HP:0011073) | 2.29232160 |
| 62 | Abnormality of the hepatic vasculature (HP:0006707) | 2.29207543 |
| 63 | Abnormal drinking behavior (HP:0030082) | 2.23006166 |
| 64 | Polydipsia (HP:0001959) | 2.23006166 |
| 65 | Myokymia (HP:0002411) | 2.22794921 |
| 66 | Flattened epiphyses (HP:0003071) | 2.20893878 |
| 67 | Increased purine levels (HP:0004368) | 2.18750376 |
| 68 | Hyperuricemia (HP:0002149) | 2.18750376 |
| 69 | Progressive hearing impairment (HP:0001730) | 2.16566281 |
| 70 | Abnormality of the renal medulla (HP:0100957) | 2.12966906 |
| 71 | Polyuria (HP:0000103) | 2.11727506 |
| 72 | Osteomalacia (HP:0002749) | 2.08644190 |
| 73 | Bronchiectasis (HP:0002110) | 2.07906467 |
| 74 | Tetany (HP:0001281) | 2.05319174 |
| 75 | Chronic bronchitis (HP:0004469) | 2.03745227 |
| 76 | Recurrent pneumonia (HP:0006532) | 2.02218201 |
| 77 | Ventricular tachycardia (HP:0004756) | 2.01789136 |
| 78 | Widely patent fontanelles and sutures (HP:0004492) | 1.99430542 |
| 79 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.97316188 |
| 80 | Peripheral hypomyelination (HP:0007182) | 1.95820636 |
| 81 | Hyponatremia (HP:0002902) | 1.95603170 |
| 82 | Transposition of the great arteries (HP:0001669) | 1.94657059 |
| 83 | Abnormal connection of the cardiac segments (HP:0011545) | 1.94657059 |
| 84 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.94657059 |
| 85 | Epiphyseal dysplasia (HP:0002656) | 1.94482648 |
| 86 | Optic nerve hypoplasia (HP:0000609) | 1.91447156 |
| 87 | Subcapsular cataract (HP:0000523) | 1.87275036 |
| 88 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.85229130 |
| 89 | Abnormality of chloride homeostasis (HP:0011422) | 1.83468926 |
| 90 | Hyperthyroidism (HP:0000836) | 1.81385897 |
| 91 | Hypophosphatemic rickets (HP:0004912) | 1.79720206 |
| 92 | Neoplasm of the heart (HP:0100544) | 1.79691173 |
| 93 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.77713327 |
| 94 | Absent epiphyses (HP:0010577) | 1.77713327 |
| 95 | Flat capital femoral epiphysis (HP:0003370) | 1.77505315 |
| 96 | Renal Fanconi syndrome (HP:0001994) | 1.77324852 |
| 97 | Upper limb muscle weakness (HP:0003484) | 1.74466779 |
| 98 | Hypoparathyroidism (HP:0000829) | 1.72599783 |
| 99 | Amblyopia (HP:0000646) | 1.72437991 |
| 100 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.71628352 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.40012693 |
| 2 | TESK1 | 6.62263867 |
| 3 | STK38 | 4.54710051 |
| 4 | DDR2 | 4.36925034 |
| 5 | PNCK | 3.57911735 |
| 6 | MAP4K2 | 3.36868535 |
| 7 | PRKD3 | 3.15822329 |
| 8 | STK38L | 2.99681403 |
| 9 | BRD4 | 2.80741533 |
| 10 | PLK2 | 2.64727088 |
| 11 | CAMK1G | 2.62542625 |
| 12 | MAPK15 | 2.61537125 |
| 13 | INSRR | 2.42552693 |
| 14 | MST1R | 2.05544715 |
| 15 | PDPK1 | 1.78134178 |
| 16 | DYRK1B | 1.75164602 |
| 17 | PDK1 | 1.59908141 |
| 18 | NEK6 | 1.57627003 |
| 19 | WNK1 | 1.43632019 |
| 20 | CDK12 | 1.34855231 |
| 21 | PIK3CG | 1.23576696 |
| 22 | CDK7 | 1.18498182 |
| 23 | AKT3 | 1.16731999 |
| 24 | KSR2 | 1.10052389 |
| 25 | MAP3K9 | 1.09912705 |
| 26 | SIK2 | 1.00978444 |
| 27 | PTK2B | 0.98023932 |
| 28 | WNK4 | 0.96261810 |
| 29 | BRAF | 0.87876150 |
| 30 | CAMK1D | 0.84425386 |
| 31 | RIPK4 | 0.84260828 |
| 32 | STK39 | 0.80892584 |
| 33 | MAP3K11 | 0.74705006 |
| 34 | UHMK1 | 0.72848305 |
| 35 | MAP2K2 | 0.72562527 |
| 36 | LATS2 | 0.71797050 |
| 37 | RPS6KA1 | 0.71717406 |
| 38 | MAP3K2 | 0.71386811 |
| 39 | RPS6KA2 | 0.68046941 |
| 40 | PRKG1 | 0.65937686 |
| 41 | MAP3K8 | 0.64161575 |
| 42 | PRKG2 | 0.62667216 |
| 43 | ROCK1 | 0.62618220 |
| 44 | SGK223 | 0.61042338 |
| 45 | SGK494 | 0.61042338 |
| 46 | TYRO3 | 0.60670424 |
| 47 | CAMK1 | 0.56817816 |
| 48 | GSK3B | 0.52296960 |
| 49 | CDK2 | 0.50511741 |
| 50 | CDK3 | 0.48453849 |
| 51 | LATS1 | 0.48196119 |
| 52 | PRKAA2 | 0.47810658 |
| 53 | MAP3K1 | 0.47666630 |
| 54 | BMPR1B | 0.46260396 |
| 55 | MTOR | 0.46103856 |
| 56 | PINK1 | 0.45989574 |
| 57 | CDK4 | 0.45806053 |
| 58 | MAPK8 | 0.44472739 |
| 59 | CDK1 | 0.43761387 |
| 60 | TESK2 | 0.42076563 |
| 61 | MAPK1 | 0.41800971 |
| 62 | SGK1 | 0.37452194 |
| 63 | PRKCZ | 0.35936638 |
| 64 | ARAF | 0.35241234 |
| 65 | MET | 0.34167765 |
| 66 | RPS6KL1 | 0.33826069 |
| 67 | RPS6KC1 | 0.33826069 |
| 68 | CAMK4 | 0.31850804 |
| 69 | CHEK1 | 0.31787365 |
| 70 | RPS6KA6 | 0.31448904 |
| 71 | MINK1 | 0.28635002 |
| 72 | PRKCG | 0.27599537 |
| 73 | MAPK14 | 0.27016285 |
| 74 | PRKCB | 0.24743809 |
| 75 | MAPK10 | 0.24666807 |
| 76 | NEK2 | 0.24017729 |
| 77 | NTRK3 | 0.22892002 |
| 78 | MARK1 | 0.22762971 |
| 79 | OXSR1 | 0.18647390 |
| 80 | MUSK | 0.18547414 |
| 81 | AKT1 | 0.16490087 |
| 82 | BRSK1 | 0.16384715 |
| 83 | MAPK11 | 0.15217465 |
| 84 | MARK2 | 0.15029200 |
| 85 | TNIK | 0.14802247 |
| 86 | FER | 0.13054267 |
| 87 | PKN1 | 0.12101003 |
| 88 | TIE1 | 0.12000173 |
| 89 | MAP3K4 | 0.11783880 |
| 90 | SGK2 | 0.10678017 |
| 91 | ACVR1B | 0.09644867 |
| 92 | PRKACB | 0.09215503 |
| 93 | PRKAA1 | 0.09101733 |
| 94 | PRKACA | 0.07828341 |
| 95 | DYRK2 | 0.07115725 |
| 96 | PRKCQ | 0.06704134 |
| 97 | MAPK9 | 0.06125624 |
| 98 | DYRK3 | 0.05743973 |
| 99 | ZAK | 0.05577233 |
| 100 | PRKCA | 0.05124408 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 8.15180162 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 7.68671787 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 2.98814746 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.69133161 |
| 5 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.18660074 |
| 6 | Fatty acid degradation_Homo sapiens_hsa00071 | 2.16246619 |
| 7 | Fatty acid metabolism_Homo sapiens_hsa01212 | 2.01767981 |
| 8 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.80891006 |
| 9 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.79534714 |
| 10 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.77990422 |
| 11 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.77163042 |
| 12 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.50537468 |
| 13 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.49950574 |
| 14 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.49126064 |
| 15 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.35516432 |
| 16 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.34907652 |
| 17 | Taste transduction_Homo sapiens_hsa04742 | 1.34325270 |
| 18 | RNA transport_Homo sapiens_hsa03013 | 1.33713034 |
| 19 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.28722777 |
| 20 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.26426571 |
| 21 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.23869578 |
| 22 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.18245066 |
| 23 | Allograft rejection_Homo sapiens_hsa05330 | 1.08298098 |
| 24 | Endocytosis_Homo sapiens_hsa04144 | 1.08200348 |
| 25 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.05836372 |
| 26 | Phototransduction_Homo sapiens_hsa04744 | 1.04461475 |
| 27 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.01905448 |
| 28 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.96156358 |
| 29 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.92670421 |
| 30 | Morphine addiction_Homo sapiens_hsa05032 | 0.92514802 |
| 31 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.89492093 |
| 32 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.87815526 |
| 33 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.86240450 |
| 34 | Salivary secretion_Homo sapiens_hsa04970 | 0.85514524 |
| 35 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.82976608 |
| 36 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.81755764 |
| 37 | Circadian entrainment_Homo sapiens_hsa04713 | 0.80837062 |
| 38 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.79462253 |
| 39 | Viral myocarditis_Homo sapiens_hsa05416 | 0.78928232 |
| 40 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.78539643 |
| 41 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.75193731 |
| 42 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.74680051 |
| 43 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.72393358 |
| 44 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.72250679 |
| 45 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.71554886 |
| 46 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.70360148 |
| 47 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.68363567 |
| 48 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.68192117 |
| 49 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.67930167 |
| 50 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.67628033 |
| 51 | ABC transporters_Homo sapiens_hsa02010 | 0.63133807 |
| 52 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.61296168 |
| 53 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.60704611 |
| 54 | Influenza A_Homo sapiens_hsa05164 | 0.58370952 |
| 55 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.56604288 |
| 56 | Tight junction_Homo sapiens_hsa04530 | 0.56354379 |
| 57 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.56246489 |
| 58 | Nicotine addiction_Homo sapiens_hsa05033 | 0.55070601 |
| 59 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.54804141 |
| 60 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.54028116 |
| 61 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.50631808 |
| 62 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.50006772 |
| 63 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.48446430 |
| 64 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.46743363 |
| 65 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.46376949 |
| 66 | Purine metabolism_Homo sapiens_hsa00230 | 0.45103843 |
| 67 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.44972392 |
| 68 | Renin secretion_Homo sapiens_hsa04924 | 0.44890088 |
| 69 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.44177118 |
| 70 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.44000666 |
| 71 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.41162869 |
| 72 | Retinol metabolism_Homo sapiens_hsa00830 | 0.40059835 |
| 73 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.37260998 |
| 74 | Insulin secretion_Homo sapiens_hsa04911 | 0.37245960 |
| 75 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.35615885 |
| 76 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.35321491 |
| 77 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.35033686 |
| 78 | Bile secretion_Homo sapiens_hsa04976 | 0.33650633 |
| 79 | Basal transcription factors_Homo sapiens_hsa03022 | 0.33232535 |
| 80 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.32075430 |
| 81 | GABAergic synapse_Homo sapiens_hsa04727 | 0.30647714 |
| 82 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.27090871 |
| 83 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.26124843 |
| 84 | Alcoholism_Homo sapiens_hsa05034 | 0.25616733 |
| 85 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.25510022 |
| 86 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.22812689 |
| 87 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.21937385 |
| 88 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.21482116 |
| 89 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.19483600 |
| 90 | Long-term potentiation_Homo sapiens_hsa04720 | 0.18097298 |
| 91 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.17989439 |
| 92 | Carbon metabolism_Homo sapiens_hsa01200 | 0.16911627 |
| 93 | Legionellosis_Homo sapiens_hsa05134 | 0.16367150 |
| 94 | Metabolic pathways_Homo sapiens_hsa01100 | 0.15648405 |
| 95 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.14855497 |
| 96 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.14637164 |
| 97 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.13630535 |
| 98 | Huntingtons disease_Homo sapiens_hsa05016 | 0.11677052 |
| 99 | Circadian rhythm_Homo sapiens_hsa04710 | 0.11463345 |
| 100 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.11031573 |

