

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | plasma membrane fusion (GO:0045026) | 8.68799471 |
| 2 | response to pheromone (GO:0019236) | 8.16669861 |
| 3 | spermatid development (GO:0007286) | 8.11313769 |
| 4 | chromosome condensation (GO:0030261) | 7.93816947 |
| 5 | microtubule depolymerization (GO:0007019) | 7.91610978 |
| 6 | DNA packaging (GO:0006323) | 7.90377551 |
| 7 | single strand break repair (GO:0000012) | 7.89754903 |
| 8 | multicellular organism reproduction (GO:0032504) | 7.45694733 |
| 9 | spermatid nucleus differentiation (GO:0007289) | 7.39017098 |
| 10 | sperm-egg recognition (GO:0035036) | 7.12975440 |
| 11 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.92298327 |
| 12 | reproduction (GO:0000003) | 6.80712754 |
| 13 | protein polyglutamylation (GO:0018095) | 6.74704264 |
| 14 | calcium ion-dependent exocytosis (GO:0017156) | 6.63010013 |
| 15 | microtubule polymerization or depolymerization (GO:0031109) | 6.58425700 |
| 16 | phosphatidylethanolamine metabolic process (GO:0046337) | 6.45151682 |
| 17 | protein targeting to Golgi (GO:0000042) | 6.33687283 |
| 18 | centriole replication (GO:0007099) | 6.20326034 |
| 19 | establishment of protein localization to Golgi (GO:0072600) | 6.11668950 |
| 20 | rRNA methylation (GO:0031167) | 6.11177068 |
| 21 | regulation of transcription involved in cell fate commitment (GO:0060850) | 6.10946779 |
| 22 | regulation of Rab GTPase activity (GO:0032313) | 6.02884607 |
| 23 | positive regulation of Rab GTPase activity (GO:0032851) | 6.02884607 |
| 24 | negative regulation of inclusion body assembly (GO:0090084) | 6.01241733 |
| 25 | sexual reproduction (GO:0019953) | 5.99759031 |
| 26 | binding of sperm to zona pellucida (GO:0007339) | 5.95421023 |
| 27 | axonemal dynein complex assembly (GO:0070286) | 5.95328298 |
| 28 | microtubule severing (GO:0051013) | 5.93560322 |
| 29 | cell-cell recognition (GO:0009988) | 5.92947413 |
| 30 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.88851877 |
| 31 | spermatogenesis (GO:0007283) | 5.80522441 |
| 32 | regulation of cilium movement (GO:0003352) | 5.78762581 |
| 33 | male gamete generation (GO:0048232) | 5.78421468 |
| 34 | gamete generation (GO:0007276) | 5.28489257 |
| 35 | centriole assembly (GO:0098534) | 5.25552142 |
| 36 | rRNA modification (GO:0000154) | 5.14709028 |
| 37 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.12226093 |
| 38 | cellular ketone body metabolic process (GO:0046950) | 4.98110956 |
| 39 | regulation of centriole replication (GO:0046599) | 4.93446444 |
| 40 | single fertilization (GO:0007338) | 4.79730966 |
| 41 | RNA destabilization (GO:0050779) | 4.65415416 |
| 42 | cell wall macromolecule metabolic process (GO:0044036) | 4.60218067 |
| 43 | germ cell development (GO:0007281) | 4.50890196 |
| 44 | protein localization to Golgi apparatus (GO:0034067) | 4.50663190 |
| 45 | Golgi to endosome transport (GO:0006895) | 4.49994694 |
| 46 | musculoskeletal movement (GO:0050881) | 4.45597535 |
| 47 | multicellular organismal movement (GO:0050879) | 4.45597535 |
| 48 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.39175074 |
| 49 | ketone body metabolic process (GO:1902224) | 4.38744025 |
| 50 | regulation of inclusion body assembly (GO:0090083) | 4.32156766 |
| 51 | cell wall macromolecule catabolic process (GO:0016998) | 4.25889668 |
| 52 | organic cation transport (GO:0015695) | 4.25188250 |
| 53 | multicellular organismal reproductive process (GO:0048609) | 4.23797504 |
| 54 | peptidyl-threonine dephosphorylation (GO:0035970) | 4.20120075 |
| 55 | motile cilium assembly (GO:0044458) | 4.17071886 |
| 56 | epithelial cilium movement (GO:0003351) | 4.07993796 |
| 57 | response to acidic pH (GO:0010447) | 4.04976897 |
| 58 | fertilization (GO:0009566) | 3.99375298 |
| 59 | chromatin silencing (GO:0006342) | 3.96484813 |
| 60 | seminiferous tubule development (GO:0072520) | 3.93380860 |
| 61 | regulation of microtubule-based movement (GO:0060632) | 3.92185903 |
| 62 | cerebral cortex neuron differentiation (GO:0021895) | 3.85593238 |
| 63 | nucleus organization (GO:0006997) | 3.84496751 |
| 64 | cellular response to pH (GO:0071467) | 3.68811729 |
| 65 | cilium movement (GO:0003341) | 3.60748756 |
| 66 | polyamine biosynthetic process (GO:0006596) | 3.56935777 |
| 67 | regulation of female gonad development (GO:2000194) | 3.42749938 |
| 68 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.40661695 |
| 69 | coenzyme catabolic process (GO:0009109) | 3.31736025 |
| 70 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.29191505 |
| 71 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.23871598 |
| 72 | microtubule nucleation (GO:0007020) | 3.23295072 |
| 73 | homeostasis of number of cells within a tissue (GO:0048873) | 3.13189429 |
| 74 | regulation of guanylate cyclase activity (GO:0031282) | 3.11202442 |
| 75 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.09524291 |
| 76 | multicellular organismal development (GO:0007275) | 3.09442726 |
| 77 | positive regulation of guanylate cyclase activity (GO:0031284) | 3.05052495 |
| 78 | protein-DNA complex disassembly (GO:0032986) | 3.03207130 |
| 79 | nucleosome disassembly (GO:0006337) | 3.03207130 |
| 80 | regulation of interleukin-13 production (GO:0032656) | 3.02526199 |
| 81 | male meiosis I (GO:0007141) | 2.95206957 |
| 82 | protein depolymerization (GO:0051261) | 2.92571875 |
| 83 | negative regulation of Rho protein signal transduction (GO:0035024) | 2.91419499 |
| 84 | cell recognition (GO:0008037) | 2.88160662 |
| 85 | centrosome duplication (GO:0051298) | 2.87636671 |
| 86 | regulation of cilium assembly (GO:1902017) | 2.87308705 |
| 87 | spinal cord motor neuron differentiation (GO:0021522) | 2.78663825 |
| 88 | mitotic G1 DNA damage checkpoint (GO:0031571) | 2.75786896 |
| 89 | positive regulation of endothelial cell differentiation (GO:0045603) | 2.75490493 |
| 90 | positive regulation of action potential (GO:0045760) | 2.73873422 |
| 91 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.73114615 |
| 92 | glycerol ether metabolic process (GO:0006662) | 2.72145425 |
| 93 | vesicle transport along microtubule (GO:0047496) | 2.70232429 |
| 94 | negative regulation of histone methylation (GO:0031061) | 2.68750468 |
| 95 | mitochondrial fission (GO:0000266) | 2.68412482 |
| 96 | histone H3-K9 demethylation (GO:0033169) | 2.68102125 |
| 97 | sperm motility (GO:0030317) | 11.8202363 |
| 98 | acrosome reaction (GO:0007340) | 11.5301843 |
| 99 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.4494736 |
| 100 | sperm capacitation (GO:0048240) | 10.0879205 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.86110552 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.36821591 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.27332389 |
| 4 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.76423217 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.21704587 |
| 6 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.21704587 |
| 7 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.15423691 |
| 8 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.13999657 |
| 9 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.10314987 |
| 10 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.10314987 |
| 11 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.06277765 |
| 12 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 2.03183466 |
| 13 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.02359779 |
| 14 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.98727469 |
| 15 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.98683958 |
| 16 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.94417760 |
| 17 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.91705275 |
| 18 | ERA_21632823_ChIP-Seq_H3396_Human | 1.87571841 |
| 19 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.85487811 |
| 20 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.80809280 |
| 21 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.79233128 |
| 22 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.79100783 |
| 23 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.78621248 |
| 24 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.76060672 |
| 25 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.63159370 |
| 26 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.62673843 |
| 27 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.61667079 |
| 28 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.59893568 |
| 29 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.59820550 |
| 30 | P68_20966046_ChIP-Seq_HELA_Human | 1.58637538 |
| 31 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.58291658 |
| 32 | FUS_26573619_Chip-Seq_HEK293_Human | 1.57858283 |
| 33 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.57849206 |
| 34 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.57276629 |
| 35 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.57138275 |
| 36 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.54119818 |
| 37 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.51582035 |
| 38 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.48406686 |
| 39 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.48308842 |
| 40 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.48189830 |
| 41 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.48164784 |
| 42 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.48025616 |
| 43 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.47838295 |
| 44 | AR_25329375_ChIP-Seq_VCAP_Human | 1.45729642 |
| 45 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.45366738 |
| 46 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.44561041 |
| 47 | P300_27268052_Chip-Seq_Bcells_Human | 1.43944337 |
| 48 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.43897779 |
| 49 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.41851929 |
| 50 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.41538721 |
| 51 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.39830449 |
| 52 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.37851310 |
| 53 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.37239788 |
| 54 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.37129840 |
| 55 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.36983287 |
| 56 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.32703189 |
| 57 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.32500406 |
| 58 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.30446878 |
| 59 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.29141077 |
| 60 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.27600933 |
| 61 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.26436044 |
| 62 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.24330504 |
| 63 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.23659205 |
| 64 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.23604154 |
| 65 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.22661803 |
| 66 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.22650284 |
| 67 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.21386381 |
| 68 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.21070096 |
| 69 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.19109792 |
| 70 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.17909966 |
| 71 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.17875275 |
| 72 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.17683911 |
| 73 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.17413743 |
| 74 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.14849432 |
| 75 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.13361102 |
| 76 | NFYB_21822215_ChIP-Seq_K562_Human | 1.13001577 |
| 77 | TBL1_22424771_ChIP-Seq_293T_Human | 1.09879441 |
| 78 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.09338109 |
| 79 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.08677852 |
| 80 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.08642309 |
| 81 | P300_19829295_ChIP-Seq_ESCs_Human | 1.07732094 |
| 82 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.07660710 |
| 83 | SA1_27219007_Chip-Seq_Bcells_Human | 1.06916105 |
| 84 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.06440016 |
| 85 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.06405151 |
| 86 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.04727818 |
| 87 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.04598594 |
| 88 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.04598594 |
| 89 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 1.04582465 |
| 90 | NFYA_21822215_ChIP-Seq_K562_Human | 1.04523499 |
| 91 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.03990645 |
| 92 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.02774967 |
| 93 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.02535152 |
| 94 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.02530526 |
| 95 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.01960964 |
| 96 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.01302137 |
| 97 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.00796255 |
| 98 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 0.99795140 |
| 99 | OCT4_19829295_ChIP-Seq_ESCs_Human | 0.99659331 |
| 100 | KLF5_25053715_ChIP-Seq_YYC3_Human | 0.98707405 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005377_hearing/vestibular/ear_phenot | 5.12288115 |
| 2 | MP0003878_abnormal_ear_physiology | 5.12288115 |
| 3 | MP0005670_abnormal_white_adipose | 4.88930355 |
| 4 | MP0003698_abnormal_male_reproductive | 4.45650009 |
| 5 | MP0001929_abnormal_gametogenesis | 3.87712463 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.41971239 |
| 7 | MP0002822_catalepsy | 2.95842015 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.50341490 |
| 9 | MP0000678_abnormal_parathyroid_gland | 2.40166990 |
| 10 | MP0005451_abnormal_body_composition | 2.24364182 |
| 11 | MP0005410_abnormal_fertilization | 11.8444297 |
| 12 | MP0003718_maternal_effect | 1.99447651 |
| 13 | MP0002210_abnormal_sex_determination | 1.88874299 |
| 14 | MP0005379_endocrine/exocrine_gland_phen | 1.81933229 |
| 15 | MP0003646_muscle_fatigue | 1.73205842 |
| 16 | MP0001485_abnormal_pinna_reflex | 1.65328523 |
| 17 | MP0002132_abnormal_respiratory_system | 1.58124130 |
| 18 | MP0001145_abnormal_male_reproductive | 1.49600136 |
| 19 | MP0003011_delayed_dark_adaptation | 1.46235590 |
| 20 | MP0004859_abnormal_synaptic_plasticity | 1.46205143 |
| 21 | MP0001486_abnormal_startle_reflex | 1.46010059 |
| 22 | MP0000653_abnormal_sex_gland | 1.45012133 |
| 23 | MP0002735_abnormal_chemical_nociception | 1.42305335 |
| 24 | MP0002234_abnormal_pharynx_morphology | 1.42092313 |
| 25 | MP0002282_abnormal_trachea_morphology | 1.41094529 |
| 26 | MP0005423_abnormal_somatic_nervous | 1.36785595 |
| 27 | MP0000534_abnormal_ureter_morphology | 1.36270437 |
| 28 | MP0009053_abnormal_anal_canal | 1.30807783 |
| 29 | MP0002249_abnormal_larynx_morphology | 1.30430721 |
| 30 | MP0002138_abnormal_hepatobiliary_system | 1.29207443 |
| 31 | MP0001968_abnormal_touch/_nociception | 1.28304212 |
| 32 | MP0001765_abnormal_ion_homeostasis | 1.27014146 |
| 33 | MP0001905_abnormal_dopamine_level | 1.25340064 |
| 34 | MP0005310_abnormal_salivary_gland | 1.15206561 |
| 35 | MP0008569_lethality_at_weaning | 1.14709926 |
| 36 | MP0004742_abnormal_vestibular_system | 1.14371630 |
| 37 | MP0001963_abnormal_hearing_physiology | 1.07903014 |
| 38 | MP0000026_abnormal_inner_ear | 1.03607130 |
| 39 | MP0000955_abnormal_spinal_cord | 0.99631173 |
| 40 | MP0002067_abnormal_sensory_capabilities | 0.97504304 |
| 41 | MP0003879_abnormal_hair_cell | 0.97310324 |
| 42 | MP0002557_abnormal_social/conspecific_i | 0.91939754 |
| 43 | MP0005551_abnormal_eye_electrophysiolog | 0.91130711 |
| 44 | MP0001440_abnormal_grooming_behavior | 0.89617500 |
| 45 | MP0002127_abnormal_cardiovascular_syste | 0.87063424 |
| 46 | MP0009745_abnormal_behavioral_response | 0.85751024 |
| 47 | MP0002229_neurodegeneration | 0.84939946 |
| 48 | MP0000049_abnormal_middle_ear | 0.84168539 |
| 49 | MP0005395_other_phenotype | 0.83809897 |
| 50 | MP0002733_abnormal_thermal_nociception | 0.81997113 |
| 51 | MP0002572_abnormal_emotion/affect_behav | 0.80674502 |
| 52 | MP0004510_myositis | 0.79798505 |
| 53 | MP0008877_abnormal_DNA_methylation | 0.79399216 |
| 54 | MP0009115_abnormal_fat_cell | 0.75970772 |
| 55 | MP0005253_abnormal_eye_physiology | 0.74619564 |
| 56 | MP0005248_abnormal_Harderian_gland | 0.74343412 |
| 57 | MP0003283_abnormal_digestive_organ | 0.70179836 |
| 58 | MP0005666_abnormal_adipose_tissue | 0.69101645 |
| 59 | MP0002272_abnormal_nervous_system | 0.68489313 |
| 60 | MP0004085_abnormal_heartbeat | 0.67626433 |
| 61 | MP0002734_abnormal_mechanical_nocicepti | 0.66585364 |
| 62 | MP0003119_abnormal_digestive_system | 0.65261937 |
| 63 | MP0001666_abnormal_nutrient_absorption | 0.63930998 |
| 64 | MP0005636_abnormal_mineral_homeostasis | 0.63076802 |
| 65 | MP0005535_abnormal_body_temperature | 0.61732756 |
| 66 | MP0009046_muscle_twitch | 0.60926402 |
| 67 | MP0005367_renal/urinary_system_phenotyp | 0.60752516 |
| 68 | MP0000516_abnormal_urinary_system | 0.60752516 |
| 69 | MP0005167_abnormal_blood-brain_barrier | 0.60608102 |
| 70 | MP0001970_abnormal_pain_threshold | 0.58928719 |
| 71 | MP0009697_abnormal_copulation | 0.58651685 |
| 72 | MP0000681_abnormal_thyroid_gland | 0.57526862 |
| 73 | MP0008995_early_reproductive_senescence | 0.56847883 |
| 74 | MP0005375_adipose_tissue_phenotype | 0.55562515 |
| 75 | MP0003635_abnormal_synaptic_transmissio | 0.55166348 |
| 76 | MP0005083_abnormal_biliary_tract | 0.51116000 |
| 77 | MP0003699_abnormal_female_reproductive | 0.49662535 |
| 78 | MP0000470_abnormal_stomach_morphology | 0.49128032 |
| 79 | MP0009764_decreased_sensitivity_to | 0.48504576 |
| 80 | MP0000003_abnormal_adipose_tissue | 0.48104319 |
| 81 | MP0004484_altered_response_of | 0.46832465 |
| 82 | MP0002928_abnormal_bile_duct | 0.43385600 |
| 83 | MP0008961_abnormal_basal_metabolism | 0.42490941 |
| 84 | MP0001270_distended_abdomen | 0.42445327 |
| 85 | MP0003077_abnormal_cell_cycle | 0.42390645 |
| 86 | MP0003632_abnormal_nervous_system | 0.42126993 |
| 87 | MP0003252_abnormal_bile_duct | 0.41119981 |
| 88 | MP0006292_abnormal_olfactory_placode | 0.40696559 |
| 89 | MP0003631_nervous_system_phenotype | 0.39255230 |
| 90 | MP0003137_abnormal_impulse_conducting | 0.38586379 |
| 91 | MP0003936_abnormal_reproductive_system | 0.37530582 |
| 92 | MP0001879_abnormal_lymphatic_vessel | 0.36808686 |
| 93 | MP0005391_vision/eye_phenotype | 0.36298790 |
| 94 | MP0000566_synostosis | 0.35945811 |
| 95 | MP0002064_seizures | 0.35401059 |
| 96 | MP0002882_abnormal_neuron_morphology | 0.35227274 |
| 97 | MP0002653_abnormal_ependyma_morphology | 0.34680985 |
| 98 | MP0003091_abnormal_cell_migration | 0.34179473 |
| 99 | MP0000230_abnormal_systemic_arterial | 0.33573051 |
| 100 | MP0002063_abnormal_learning/memory/cond | 0.32780015 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.21405268 |
| 2 | Asymmetric septal hypertrophy (HP:0001670) | 5.40047881 |
| 3 | Bell-shaped thorax (HP:0001591) | 5.35304262 |
| 4 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.30602648 |
| 5 | Absent/shortened dynein arms (HP:0200106) | 5.30602648 |
| 6 | Attenuation of retinal blood vessels (HP:0007843) | 5.16323404 |
| 7 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.16182788 |
| 8 | Hyperkalemia (HP:0002153) | 4.57594312 |
| 9 | Hypoplastic ischia (HP:0003175) | 4.48352480 |
| 10 | Tubulointerstitial nephritis (HP:0001970) | 4.47877378 |
| 11 | Chronic hepatic failure (HP:0100626) | 4.44566335 |
| 12 | Resting tremor (HP:0002322) | 4.37969431 |
| 13 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.29562431 |
| 14 | Male infertility (HP:0003251) | 4.29128515 |
| 15 | Abnormal ciliary motility (HP:0012262) | 4.25703590 |
| 16 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.22638475 |
| 17 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.16407500 |
| 18 | Infertility (HP:0000789) | 4.14455487 |
| 19 | Enlarged epiphyses (HP:0010580) | 4.12046463 |
| 20 | Potter facies (HP:0002009) | 4.10642251 |
| 21 | Facial shape deformation (HP:0011334) | 4.10642251 |
| 22 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.04801127 |
| 23 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.04801127 |
| 24 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.98560701 |
| 25 | Abnormality of the ischium (HP:0003174) | 3.96835057 |
| 26 | Abnormality of macular pigmentation (HP:0008002) | 3.77039305 |
| 27 | Impulsivity (HP:0100710) | 3.75080887 |
| 28 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.50743173 |
| 29 | Nasal polyposis (HP:0100582) | 3.40956142 |
| 30 | Postural instability (HP:0002172) | 3.35539812 |
| 31 | Cone-rod dystrophy (HP:0000548) | 3.32041220 |
| 32 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.30598023 |
| 33 | Abnormal spermatogenesis (HP:0008669) | 3.22129511 |
| 34 | Hypoplasia of the thymus (HP:0000778) | 3.21293233 |
| 35 | Nephronophthisis (HP:0000090) | 3.18438923 |
| 36 | Progressive cerebellar ataxia (HP:0002073) | 3.02929015 |
| 37 | Abnormal urine output (HP:0012590) | 3.00694475 |
| 38 | Azoospermia (HP:0000027) | 2.93915713 |
| 39 | Epiphyseal dysplasia (HP:0002656) | 2.80848564 |
| 40 | Generalized aminoaciduria (HP:0002909) | 2.73064691 |
| 41 | Abnormality of the nasal mucosa (HP:0000433) | 2.72431078 |
| 42 | Rhinitis (HP:0012384) | 2.69768858 |
| 43 | Hypoalphalipoproteinemia (HP:0003233) | 2.68929852 |
| 44 | Abnormality of the renal medulla (HP:0100957) | 2.68186351 |
| 45 | Abnormality of the costochondral junction (HP:0000919) | 2.64036287 |
| 46 | Abnormality of potassium homeostasis (HP:0011042) | 2.63611006 |
| 47 | Abnormality of renal excretion (HP:0011036) | 2.61638593 |
| 48 | Portal hypertension (HP:0001409) | 2.58427298 |
| 49 | Abnormal drinking behavior (HP:0030082) | 2.56950284 |
| 50 | Polydipsia (HP:0001959) | 2.56950284 |
| 51 | Progressive sensorineural hearing impairment (HP:0000408) | 2.55593608 |
| 52 | Tubulointerstitial abnormality (HP:0001969) | 2.51542976 |
| 53 | Renovascular hypertension (HP:0100817) | 2.49789097 |
| 54 | Truncal obesity (HP:0001956) | 2.44419640 |
| 55 | Widely patent fontanelles and sutures (HP:0004492) | 2.43219247 |
| 56 | Abnormality of dental color (HP:0011073) | 2.42775094 |
| 57 | Renal dysplasia (HP:0000110) | 2.42526644 |
| 58 | Amelogenesis imperfecta (HP:0000705) | 2.41215350 |
| 59 | Absent epiphyses (HP:0010577) | 2.40135661 |
| 60 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.40135661 |
| 61 | Polyuria (HP:0000103) | 2.40046714 |
| 62 | Abnormality of the hepatic vasculature (HP:0006707) | 2.34713211 |
| 63 | Menstrual irregularities (HP:0000858) | 2.25446507 |
| 64 | Unilateral renal agenesis (HP:0000122) | 2.25002577 |
| 65 | Stage 5 chronic kidney disease (HP:0003774) | 2.23036729 |
| 66 | Abnormality of the aortic arch (HP:0012303) | 2.22312172 |
| 67 | Abnormality of the pubic bones (HP:0003172) | 2.22033875 |
| 68 | Congenital malformation of the right heart (HP:0011723) | 2.19065245 |
| 69 | Double outlet right ventricle (HP:0001719) | 2.19065245 |
| 70 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.17895895 |
| 71 | Hypophosphatemic rickets (HP:0004912) | 2.17329744 |
| 72 | Recurrent pneumonia (HP:0006532) | 2.17302896 |
| 73 | Occipital encephalocele (HP:0002085) | 2.11320793 |
| 74 | Genetic anticipation (HP:0003743) | 2.08460964 |
| 75 | Protuberant abdomen (HP:0001538) | 2.03298333 |
| 76 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 2.02372494 |
| 77 | Short ribs (HP:0000773) | 2.01452794 |
| 78 | Anterior segment dysgenesis (HP:0007700) | 1.99943141 |
| 79 | Decreased central vision (HP:0007663) | 1.98614555 |
| 80 | Bronchiectasis (HP:0002110) | 1.94725866 |
| 81 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.94575923 |
| 82 | Chronic bronchitis (HP:0004469) | 1.93878304 |
| 83 | Intellectual disability, moderate (HP:0002342) | 1.93151038 |
| 84 | Spastic paraparesis (HP:0002313) | 1.92192259 |
| 85 | Hyperuricemia (HP:0002149) | 1.91248667 |
| 86 | Increased purine levels (HP:0004368) | 1.91248667 |
| 87 | Abnormality of femoral epiphyses (HP:0006499) | 1.90366795 |
| 88 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.90366795 |
| 89 | Tubular atrophy (HP:0000092) | 1.90188282 |
| 90 | Mixed hearing impairment (HP:0000410) | 1.87565432 |
| 91 | Recurrent corneal erosions (HP:0000495) | 1.86449425 |
| 92 | Congenital sensorineural hearing impairment (HP:0008527) | 1.85750644 |
| 93 | Osteomalacia (HP:0002749) | 1.85375719 |
| 94 | Hyponatremia (HP:0002902) | 1.84858325 |
| 95 | Vertebral clefting (HP:0008428) | 1.83299373 |
| 96 | Abnormality of chloride homeostasis (HP:0011422) | 1.81113467 |
| 97 | Abnormality of the femoral head (HP:0003368) | 1.79272387 |
| 98 | Flattened epiphyses (HP:0003071) | 1.78454903 |
| 99 | Cerebellar dysplasia (HP:0007033) | 1.76671451 |
| 100 | Abnormality of the parathyroid morphology (HP:0011766) | 1.75973298 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.23598251 |
| 2 | TESK1 | 5.97313077 |
| 3 | DDR2 | 5.91482331 |
| 4 | STK38 | 3.63320664 |
| 5 | PNCK | 3.37858681 |
| 6 | PLK2 | 2.97978222 |
| 7 | INSRR | 2.85134574 |
| 8 | STK38L | 2.64009519 |
| 9 | MAPK15 | 2.55387838 |
| 10 | PRKD3 | 2.41965657 |
| 11 | CAMK1G | 2.34716705 |
| 12 | MST1R | 2.31760464 |
| 13 | MAP4K2 | 2.19479889 |
| 14 | BRD4 | 1.97020112 |
| 15 | PDPK1 | 1.47214560 |
| 16 | WNK1 | 1.45707049 |
| 17 | DYRK1B | 1.38990162 |
| 18 | PIK3CG | 1.35901728 |
| 19 | PDK1 | 1.32748662 |
| 20 | CDK7 | 1.26612549 |
| 21 | WNK4 | 1.22247745 |
| 22 | PTK2B | 1.12601633 |
| 23 | AKT3 | 1.04918772 |
| 24 | SIK2 | 1.04326902 |
| 25 | NEK6 | 1.03842332 |
| 26 | KSR2 | 1.01787200 |
| 27 | CDK12 | 0.97317361 |
| 28 | MAP3K9 | 0.94802908 |
| 29 | CAMK1D | 0.92481291 |
| 30 | RPS6KA2 | 0.85004864 |
| 31 | MAP3K11 | 0.82862324 |
| 32 | UHMK1 | 0.80391226 |
| 33 | JAK3 | 0.77498506 |
| 34 | BRAF | 0.76222615 |
| 35 | PRKG1 | 0.74977267 |
| 36 | PRKG2 | 0.71263677 |
| 37 | MAP3K2 | 0.69776423 |
| 38 | RPS6KA1 | 0.67946250 |
| 39 | STK39 | 0.66298917 |
| 40 | RIPK4 | 0.63837517 |
| 41 | TESK2 | 0.62027679 |
| 42 | ROCK1 | 0.58883143 |
| 43 | ADRBK2 | 0.56386641 |
| 44 | MET | 0.54436951 |
| 45 | MAP2K2 | 0.52501216 |
| 46 | OXSR1 | 0.48868075 |
| 47 | PRKAA2 | 0.48455141 |
| 48 | MUSK | 0.48423785 |
| 49 | RPS6KC1 | 0.48281574 |
| 50 | RPS6KL1 | 0.48281574 |
| 51 | RPS6KA6 | 0.47433436 |
| 52 | CAMK1 | 0.46718485 |
| 53 | TYRO3 | 0.46577217 |
| 54 | CDK2 | 0.46210693 |
| 55 | TNIK | 0.43916086 |
| 56 | SGK494 | 0.43736539 |
| 57 | SGK223 | 0.43736539 |
| 58 | LATS2 | 0.43621553 |
| 59 | GSK3B | 0.43519547 |
| 60 | MAP3K8 | 0.43423222 |
| 61 | PRKCG | 0.41563359 |
| 62 | DYRK3 | 0.39592828 |
| 63 | CDK3 | 0.38945005 |
| 64 | MAPK1 | 0.37087943 |
| 65 | MAP3K4 | 0.36913467 |
| 66 | NTRK3 | 0.36040654 |
| 67 | CDK1 | 0.35308672 |
| 68 | CDK4 | 0.34879551 |
| 69 | BMPR1B | 0.34877804 |
| 70 | MAPK8 | 0.34725753 |
| 71 | MAPK11 | 0.33577735 |
| 72 | LATS1 | 0.33063205 |
| 73 | PRKCZ | 0.32467099 |
| 74 | MARK1 | 0.31553875 |
| 75 | PRKCB | 0.31312949 |
| 76 | RIPK1 | 0.29309587 |
| 77 | MAP3K1 | 0.29218246 |
| 78 | NEK2 | 0.29199114 |
| 79 | MTOR | 0.28037838 |
| 80 | CHEK1 | 0.27713972 |
| 81 | SGK1 | 0.27254151 |
| 82 | MARK2 | 0.26819395 |
| 83 | CAMK4 | 0.26721469 |
| 84 | CDK19 | 0.24560309 |
| 85 | PRKCE | 0.23850619 |
| 86 | ARAF | 0.23132653 |
| 87 | MAPK14 | 0.23062324 |
| 88 | BRSK1 | 0.22627049 |
| 89 | ZAK | 0.20194262 |
| 90 | SGK2 | 0.17995716 |
| 91 | MAPK10 | 0.17575949 |
| 92 | ACVR1B | 0.17311562 |
| 93 | PKN1 | 0.15771398 |
| 94 | BRSK2 | 0.15222591 |
| 95 | AKT1 | 0.14351737 |
| 96 | PRKACB | 0.13030497 |
| 97 | PRKCA | 0.11892872 |
| 98 | PRKAA1 | 0.10464370 |
| 99 | PRKACA | 0.09772221 |
| 100 | MINK1 | 0.09171312 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.73430756 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.46804402 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.64448302 |
| 4 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.62173320 |
| 5 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 2.34169986 |
| 6 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.30706428 |
| 7 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.18145177 |
| 8 | Taste transduction_Homo sapiens_hsa04742 | 1.84459905 |
| 9 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.82879503 |
| 10 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.67771272 |
| 11 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.64635180 |
| 12 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.60216275 |
| 13 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.57386228 |
| 14 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.46000035 |
| 15 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.42049875 |
| 16 | ABC transporters_Homo sapiens_hsa02010 | 1.40772908 |
| 17 | Phototransduction_Homo sapiens_hsa04744 | 1.39967492 |
| 18 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.34839757 |
| 19 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.31481760 |
| 20 | Morphine addiction_Homo sapiens_hsa05032 | 1.30045491 |
| 21 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.29814494 |
| 22 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.21807454 |
| 23 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.20728203 |
| 24 | Nicotine addiction_Homo sapiens_hsa05033 | 1.16486732 |
| 25 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.15919389 |
| 26 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.15211928 |
| 27 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.10953730 |
| 28 | RNA transport_Homo sapiens_hsa03013 | 1.10903278 |
| 29 | Salivary secretion_Homo sapiens_hsa04970 | 1.06823995 |
| 30 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.04346317 |
| 31 | Allograft rejection_Homo sapiens_hsa05330 | 1.03429075 |
| 32 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.03160330 |
| 33 | Circadian entrainment_Homo sapiens_hsa04713 | 1.00833691 |
| 34 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.00710173 |
| 35 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.99420950 |
| 36 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.98825215 |
| 37 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.96909683 |
| 38 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.95660008 |
| 39 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.90788013 |
| 40 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.89424746 |
| 41 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.89026229 |
| 42 | Endocytosis_Homo sapiens_hsa04144 | 0.88233845 |
| 43 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.87047456 |
| 44 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.86253733 |
| 45 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.85386428 |
| 46 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.84094766 |
| 47 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.80380901 |
| 48 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.80053121 |
| 49 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.79221885 |
| 50 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.77327890 |
| 51 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.77065834 |
| 52 | Bile secretion_Homo sapiens_hsa04976 | 0.74050875 |
| 53 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.73884246 |
| 54 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.73725442 |
| 55 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.73640627 |
| 56 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.70837609 |
| 57 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.69836068 |
| 58 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.67818231 |
| 59 | GABAergic synapse_Homo sapiens_hsa04727 | 0.66371955 |
| 60 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.66235195 |
| 61 | Viral myocarditis_Homo sapiens_hsa05416 | 0.65259149 |
| 62 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.65174578 |
| 63 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.61673760 |
| 64 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.60268848 |
| 65 | Insulin secretion_Homo sapiens_hsa04911 | 0.58713735 |
| 66 | Basal transcription factors_Homo sapiens_hsa03022 | 0.58117649 |
| 67 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.57251874 |
| 68 | Tight junction_Homo sapiens_hsa04530 | 0.56254195 |
| 69 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.56222463 |
| 70 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.54976578 |
| 71 | Retinol metabolism_Homo sapiens_hsa00830 | 0.53623857 |
| 72 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.51608875 |
| 73 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.51021701 |
| 74 | Purine metabolism_Homo sapiens_hsa00230 | 0.50692828 |
| 75 | Renin secretion_Homo sapiens_hsa04924 | 0.49962651 |
| 76 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.49616006 |
| 77 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.46340529 |
| 78 | Influenza A_Homo sapiens_hsa05164 | 0.42936441 |
| 79 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.41174973 |
| 80 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.40241796 |
| 81 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.40154818 |
| 82 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.37845186 |
| 83 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.33701283 |
| 84 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.32321793 |
| 85 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.31739544 |
| 86 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.31470337 |
| 87 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.29309713 |
| 88 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.28996937 |
| 89 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.27433538 |
| 90 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.24940343 |
| 91 | Long-term depression_Homo sapiens_hsa04730 | 0.22937124 |
| 92 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.21684618 |
| 93 | Huntingtons disease_Homo sapiens_hsa05016 | 0.21190056 |
| 94 | Long-term potentiation_Homo sapiens_hsa04720 | 0.21041413 |
| 95 | Cocaine addiction_Homo sapiens_hsa05030 | 0.19460098 |
| 96 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.18841074 |
| 97 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.16751894 |
| 98 | Mineral absorption_Homo sapiens_hsa04978 | 0.15925144 |
| 99 | Metabolic pathways_Homo sapiens_hsa01100 | 0.15064100 |
| 100 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.14982824 |

