

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm motility (GO:0030317) | 9.59313788 |
| 2 | acrosome reaction (GO:0007340) | 9.23990226 |
| 3 | sperm capacitation (GO:0048240) | 8.18519656 |
| 4 | plasma membrane fusion (GO:0045026) | 7.74193646 |
| 5 | negative regulation of inclusion body assembly (GO:0090084) | 6.89163254 |
| 6 | spermatid development (GO:0007286) | 6.34435497 |
| 7 | spermatid nucleus differentiation (GO:0007289) | 6.32460188 |
| 8 | chromosome condensation (GO:0030261) | 6.23454796 |
| 9 | opioid receptor signaling pathway (GO:0038003) | 6.09392697 |
| 10 | response to pheromone (GO:0019236) | 6.00220818 |
| 11 | DNA packaging (GO:0006323) | 5.94549023 |
| 12 | microtubule depolymerization (GO:0007019) | 5.91363171 |
| 13 | centriole replication (GO:0007099) | 5.83548730 |
| 14 | regulation of inclusion body assembly (GO:0090083) | 5.76406690 |
| 15 | protein polyglutamylation (GO:0018095) | 5.62063825 |
| 16 | sexual reproduction (GO:0019953) | 5.55587882 |
| 17 | protein targeting to Golgi (GO:0000042) | 5.48070331 |
| 18 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.44312121 |
| 19 | calcium ion-dependent exocytosis (GO:0017156) | 5.43374056 |
| 20 | sperm-egg recognition (GO:0035036) | 5.39511859 |
| 21 | multicellular organism reproduction (GO:0032504) | 5.36548302 |
| 22 | reproduction (GO:0000003) | 5.22024401 |
| 23 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.21194373 |
| 24 | establishment of protein localization to Golgi (GO:0072600) | 5.13472833 |
| 25 | microtubule polymerization or depolymerization (GO:0031109) | 5.10730305 |
| 26 | multicellular organismal movement (GO:0050879) | 5.04597563 |
| 27 | musculoskeletal movement (GO:0050881) | 5.04597563 |
| 28 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.03685623 |
| 29 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.99397858 |
| 30 | spermatogenesis (GO:0007283) | 4.85213311 |
| 31 | centriole assembly (GO:0098534) | 4.83758586 |
| 32 | male gamete generation (GO:0048232) | 4.83394444 |
| 33 | axonemal dynein complex assembly (GO:0070286) | 4.76649209 |
| 34 | single strand break repair (GO:0000012) | 4.70836068 |
| 35 | binding of sperm to zona pellucida (GO:0007339) | 4.70023573 |
| 36 | regulation of cilium movement (GO:0003352) | 4.65784930 |
| 37 | regulation of centriole replication (GO:0046599) | 4.58887032 |
| 38 | rRNA methylation (GO:0031167) | 4.56074903 |
| 39 | positive regulation of phosphoprotein phosphatase activity (GO:0032516) | 4.48687769 |
| 40 | cell-cell recognition (GO:0009988) | 4.42030569 |
| 41 | gamete generation (GO:0007276) | 4.40443676 |
| 42 | microtubule severing (GO:0051013) | 4.35668411 |
| 43 | regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081) | 4.30249061 |
| 44 | positive regulation of Rab GTPase activity (GO:0032851) | 4.17741018 |
| 45 | regulation of Rab GTPase activity (GO:0032313) | 4.17741018 |
| 46 | cerebellar granule cell differentiation (GO:0021707) | 3.90600260 |
| 47 | cilium or flagellum-dependent cell motility (GO:0001539) | 3.85794936 |
| 48 | C4-dicarboxylate transport (GO:0015740) | 3.82370813 |
| 49 | protein localization to Golgi apparatus (GO:0034067) | 3.79542202 |
| 50 | cellular ketone body metabolic process (GO:0046950) | 3.76468251 |
| 51 | single fertilization (GO:0007338) | 3.75929305 |
| 52 | sodium ion export (GO:0071436) | 3.72493043 |
| 53 | motile cilium assembly (GO:0044458) | 3.71142701 |
| 54 | multicellular organismal reproductive process (GO:0048609) | 3.54149651 |
| 55 | seminiferous tubule development (GO:0072520) | 3.50835367 |
| 56 | epithelial cilium movement (GO:0003351) | 3.47640311 |
| 57 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.44789492 |
| 58 | regulation of microtubule-based movement (GO:0060632) | 3.42152641 |
| 59 | chaperone-mediated protein complex assembly (GO:0051131) | 3.34870310 |
| 60 | rRNA modification (GO:0000154) | 3.34280200 |
| 61 | germ cell development (GO:0007281) | 3.34074257 |
| 62 | metanephric nephron tubule development (GO:0072234) | 3.31444084 |
| 63 | metanephric tubule development (GO:0072170) | 3.31444084 |
| 64 | glomerular visceral epithelial cell development (GO:0072015) | 3.29873086 |
| 65 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.29623854 |
| 66 | ketone body metabolic process (GO:1902224) | 3.25105803 |
| 67 | peptide catabolic process (GO:0043171) | 3.17266532 |
| 68 | RNA destabilization (GO:0050779) | 3.10781938 |
| 69 | glomerular epithelial cell development (GO:0072310) | 3.09454569 |
| 70 | fertilization (GO:0009566) | 3.08271345 |
| 71 | neurotransmitter catabolic process (GO:0042135) | 3.08219110 |
| 72 | organic cation transport (GO:0015695) | 3.05842383 |
| 73 | short-term memory (GO:0007614) | 3.04179708 |
| 74 | cilium movement (GO:0003341) | 3.03446616 |
| 75 | phosphatidylcholine biosynthetic process (GO:0006656) | 3.02687753 |
| 76 | metanephric nephron epithelium development (GO:0072243) | 3.02500525 |
| 77 | ionotropic glutamate receptor signaling pathway (GO:0035235) | 3.01837773 |
| 78 | cell wall macromolecule metabolic process (GO:0044036) | 2.96395585 |
| 79 | coenzyme catabolic process (GO:0009109) | 2.91989927 |
| 80 | nucleus organization (GO:0006997) | 2.91555090 |
| 81 | cerebral cortex neuron differentiation (GO:0021895) | 2.90863992 |
| 82 | negative regulation of Rho protein signal transduction (GO:0035024) | 2.90431491 |
| 83 | cell wall macromolecule catabolic process (GO:0016998) | 2.89307621 |
| 84 | neurofilament cytoskeleton organization (GO:0060052) | 2.87974547 |
| 85 | Golgi to endosome transport (GO:0006895) | 2.83393670 |
| 86 | regulation of guanylate cyclase activity (GO:0031282) | 2.83283355 |
| 87 | regulation of cGMP biosynthetic process (GO:0030826) | 2.78734940 |
| 88 | myelin maintenance (GO:0043217) | 2.78453066 |
| 89 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.76281396 |
| 90 | cellular response to pH (GO:0071467) | 2.75993579 |
| 91 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.75411089 |
| 92 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.74189482 |
| 93 | positive regulation of cGMP biosynthetic process (GO:0030828) | 2.73671422 |
| 94 | metanephric epithelium development (GO:0072207) | 2.73069595 |
| 95 | regulation of interleukin-13 production (GO:0032656) | 2.72974126 |
| 96 | collecting duct development (GO:0072044) | 2.71899765 |
| 97 | positive regulation of endothelial cell differentiation (GO:0045603) | 2.71413753 |
| 98 | cellular sodium ion homeostasis (GO:0006883) | 2.68634687 |
| 99 | chromatin silencing (GO:0006342) | 2.67585971 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.1893264 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.84456757 |
| 2 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.95979489 |
| 3 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.59479596 |
| 4 | CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human | 2.47985418 |
| 5 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.29986901 |
| 6 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.07766827 |
| 7 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.03779640 |
| 8 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.96296025 |
| 9 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.94584916 |
| 10 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.94584916 |
| 11 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.93334751 |
| 12 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.92698437 |
| 13 | FUS_26573619_Chip-Seq_HEK293_Human | 1.92601320 |
| 14 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.85473388 |
| 15 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.69271560 |
| 16 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.66193402 |
| 17 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.65022327 |
| 18 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.65022327 |
| 19 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.58531541 |
| 20 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 1.57115833 |
| 21 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.57045396 |
| 22 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.55597072 |
| 23 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.54407665 |
| 24 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.49658102 |
| 25 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.49630620 |
| 26 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.47504910 |
| 27 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.47049700 |
| 28 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.42892120 |
| 29 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.42871816 |
| 30 | AR_25329375_ChIP-Seq_VCAP_Human | 1.42273768 |
| 31 | ERA_21632823_ChIP-Seq_H3396_Human | 1.41130986 |
| 32 | VDR_22108803_ChIP-Seq_LS180_Human | 1.40221191 |
| 33 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.39647000 |
| 34 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.39002986 |
| 35 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.38953078 |
| 36 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.38610684 |
| 37 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.38427065 |
| 38 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.38182477 |
| 39 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.36561717 |
| 40 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.36547339 |
| 41 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.32559148 |
| 42 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.31538865 |
| 43 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.30924557 |
| 44 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.30553671 |
| 45 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.30181796 |
| 46 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.30103448 |
| 47 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.28127420 |
| 48 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.27658493 |
| 49 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 1.26331416 |
| 50 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.25260221 |
| 51 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.23194768 |
| 52 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.23188657 |
| 53 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.22934574 |
| 54 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 1.22539102 |
| 55 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.21423146 |
| 56 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.21085686 |
| 57 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.19961357 |
| 58 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.19445605 |
| 59 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.19381549 |
| 60 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.18863880 |
| 61 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.18204104 |
| 62 | IKZF1_21737484_ChIP-ChIP_HCT116_Human | 1.18072453 |
| 63 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 1.17173913 |
| 64 | * SMAD4_21799915_ChIP-Seq_A2780_Human | 1.16733334 |
| 65 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 1.15922818 |
| 66 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.15590306 |
| 67 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.15145571 |
| 68 | P300_19829295_ChIP-Seq_ESCs_Human | 1.14601239 |
| 69 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.14387579 |
| 70 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.14338838 |
| 71 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.13903474 |
| 72 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.13291523 |
| 73 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.13291523 |
| 74 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.12600921 |
| 75 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.12134438 |
| 76 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.11424547 |
| 77 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.11351541 |
| 78 | GATA1_19941826_ChIP-Seq_K562_Human | 1.11149787 |
| 79 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.10843393 |
| 80 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.10325917 |
| 81 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.10010310 |
| 82 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.09437093 |
| 83 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 1.09233489 |
| 84 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.09033551 |
| 85 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.05345279 |
| 86 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.04278626 |
| 87 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.03937415 |
| 88 | STAT3_23295773_ChIP-Seq_U87_Human | 1.03541415 |
| 89 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.02392033 |
| 90 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.02386014 |
| 91 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.01855647 |
| 92 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.01268756 |
| 93 | RXR_22108803_ChIP-Seq_LS180_Human | 0.97734613 |
| 94 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.97659829 |
| 95 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.97659829 |
| 96 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 0.97625228 |
| 97 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 0.97407567 |
| 98 | P53_21459846_ChIP-Seq_SAOS-2_Human | 0.97299202 |
| 99 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 0.97000315 |
| 100 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 0.96569705 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 8.97498171 |
| 2 | MP0003878_abnormal_ear_physiology | 4.50229075 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 4.50229075 |
| 4 | MP0005670_abnormal_white_adipose | 3.55687563 |
| 5 | MP0004742_abnormal_vestibular_system | 3.30096772 |
| 6 | MP0003698_abnormal_male_reproductive | 3.26675020 |
| 7 | MP0003011_delayed_dark_adaptation | 3.06789558 |
| 8 | MP0001929_abnormal_gametogenesis | 2.77627763 |
| 9 | MP0001485_abnormal_pinna_reflex | 2.60557895 |
| 10 | MP0003879_abnormal_hair_cell | 2.30687577 |
| 11 | MP0008569_lethality_at_weaning | 2.22030985 |
| 12 | MP0001486_abnormal_startle_reflex | 2.10464359 |
| 13 | MP0005423_abnormal_somatic_nervous | 1.96629327 |
| 14 | MP0002272_abnormal_nervous_system | 1.92368406 |
| 15 | MP0004270_analgesia | 1.91376136 |
| 16 | MP0002822_catalepsy | 1.87222839 |
| 17 | MP0002161_abnormal_fertility/fecundity | 1.84492241 |
| 18 | MP0000566_synostosis | 1.83107300 |
| 19 | MP0009046_muscle_twitch | 1.82454233 |
| 20 | MP0001440_abnormal_grooming_behavior | 1.77700605 |
| 21 | MP0000534_abnormal_ureter_morphology | 1.75811812 |
| 22 | MP0003646_muscle_fatigue | 1.68098778 |
| 23 | MP0004859_abnormal_synaptic_plasticity | 1.62785759 |
| 24 | MP0002067_abnormal_sensory_capabilities | 1.58212167 |
| 25 | MP0001984_abnormal_olfaction | 1.48602432 |
| 26 | MP0001348_abnormal_lacrimal_gland | 1.45955938 |
| 27 | MP0001968_abnormal_touch/_nociception | 1.45011875 |
| 28 | MP0003635_abnormal_synaptic_transmissio | 1.42663888 |
| 29 | MP0009745_abnormal_behavioral_response | 1.35299206 |
| 30 | MP0002064_seizures | 1.35190278 |
| 31 | MP0010329_abnormal_lipoprotein_level | 1.35154470 |
| 32 | MP0004484_altered_response_of | 1.31649392 |
| 33 | MP0001963_abnormal_hearing_physiology | 1.31260608 |
| 34 | MP0000678_abnormal_parathyroid_gland | 1.31079008 |
| 35 | MP0009115_abnormal_fat_cell | 1.28652917 |
| 36 | MP0005666_abnormal_adipose_tissue | 1.26654071 |
| 37 | MP0002735_abnormal_chemical_nociception | 1.24597960 |
| 38 | MP0005551_abnormal_eye_electrophysiolog | 1.21620534 |
| 39 | MP0001765_abnormal_ion_homeostasis | 1.20746119 |
| 40 | MP0002210_abnormal_sex_determination | 1.17754603 |
| 41 | MP0003880_abnormal_central_pattern | 1.17627708 |
| 42 | MP0002127_abnormal_cardiovascular_syste | 1.16884273 |
| 43 | MP0005365_abnormal_bile_salt | 1.16463880 |
| 44 | MP0000026_abnormal_inner_ear | 1.14721499 |
| 45 | MP0005448_abnormal_energy_balance | 1.10824536 |
| 46 | MP0005451_abnormal_body_composition | 1.09036734 |
| 47 | MP0002572_abnormal_emotion/affect_behav | 1.06751194 |
| 48 | MP0002734_abnormal_mechanical_nocicepti | 1.06730838 |
| 49 | MP0001529_abnormal_vocalization | 1.05961966 |
| 50 | MP0005253_abnormal_eye_physiology | 1.05351079 |
| 51 | MP0002132_abnormal_respiratory_system | 1.04124803 |
| 52 | MP0002229_neurodegeneration | 1.03079862 |
| 53 | MP0000955_abnormal_spinal_cord | 1.02276418 |
| 54 | MP0004085_abnormal_heartbeat | 0.99961498 |
| 55 | MP0003718_maternal_effect | 0.99744310 |
| 56 | MP0010386_abnormal_urinary_bladder | 0.99703916 |
| 57 | MP0001501_abnormal_sleep_pattern | 0.97421452 |
| 58 | MP0009697_abnormal_copulation | 0.96752402 |
| 59 | MP0008874_decreased_physiological_sensi | 0.93658073 |
| 60 | MP0005409_darkened_coat_color | 0.93412401 |
| 61 | MP0005085_abnormal_gallbladder_physiolo | 0.93119306 |
| 62 | MP0003122_maternal_imprinting | 0.91149201 |
| 63 | MP0001666_abnormal_nutrient_absorption | 0.91119805 |
| 64 | MP0002557_abnormal_social/conspecific_i | 0.90537322 |
| 65 | MP0000653_abnormal_sex_gland | 0.89584253 |
| 66 | MP0005332_abnormal_amino_acid | 0.89543675 |
| 67 | MP0003137_abnormal_impulse_conducting | 0.88942925 |
| 68 | MP0005379_endocrine/exocrine_gland_phen | 0.88608354 |
| 69 | MP0002249_abnormal_larynx_morphology | 0.88514421 |
| 70 | MP0008875_abnormal_xenobiotic_pharmacok | 0.87680719 |
| 71 | MP0005375_adipose_tissue_phenotype | 0.87001254 |
| 72 | MP0005636_abnormal_mineral_homeostasis | 0.86654551 |
| 73 | MP0001145_abnormal_male_reproductive | 0.86583144 |
| 74 | MP0002063_abnormal_learning/memory/cond | 0.86155393 |
| 75 | MP0004019_abnormal_vitamin_homeostasis | 0.84750047 |
| 76 | MP0000003_abnormal_adipose_tissue | 0.84088331 |
| 77 | MP0003633_abnormal_nervous_system | 0.80975966 |
| 78 | MP0003631_nervous_system_phenotype | 0.79663763 |
| 79 | MP0003329_amyloid_beta_deposits | 0.79225184 |
| 80 | MP0004036_abnormal_muscle_relaxation | 0.78884801 |
| 81 | MP0003632_abnormal_nervous_system | 0.76937098 |
| 82 | MP0002971_abnormal_brown_adipose | 0.71988005 |
| 83 | MP0001270_distended_abdomen | 0.70574950 |
| 84 | MP0008995_early_reproductive_senescence | 0.69157813 |
| 85 | MP0005167_abnormal_blood-brain_barrier | 0.68611141 |
| 86 | MP0002118_abnormal_lipid_homeostasis | 0.65686247 |
| 87 | MP0002736_abnormal_nociception_after | 0.64538750 |
| 88 | MP0005620_abnormal_muscle_contractility | 0.63942810 |
| 89 | MP0002882_abnormal_neuron_morphology | 0.63758016 |
| 90 | MP0002184_abnormal_innervation | 0.63715506 |
| 91 | MP0005535_abnormal_body_temperature | 0.62372126 |
| 92 | MP0002282_abnormal_trachea_morphology | 0.61319111 |
| 93 | MP0002638_abnormal_pupillary_reflex | 0.60602028 |
| 94 | MP0004510_myositis | 0.59896363 |
| 95 | MP0002139_abnormal_hepatobiliary_system | 0.59456057 |
| 96 | MP0002733_abnormal_thermal_nociception | 0.58228630 |
| 97 | MP0009379_abnormal_foot_pigmentation | 0.57902016 |
| 98 | MP0001970_abnormal_pain_threshold | 0.57030483 |
| 99 | MP0005310_abnormal_salivary_gland | 0.56270655 |
| 100 | MP0003959_abnormal_lean_body | 0.55689903 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 5.44409517 |
| 2 | Tubulointerstitial nephritis (HP:0001970) | 5.11058511 |
| 3 | Asymmetric septal hypertrophy (HP:0001670) | 4.79475538 |
| 4 | Bell-shaped thorax (HP:0001591) | 4.33541098 |
| 5 | Atonic seizures (HP:0010819) | 4.22594025 |
| 6 | Progressive cerebellar ataxia (HP:0002073) | 4.04625839 |
| 7 | Impulsivity (HP:0100710) | 3.80425352 |
| 8 | Congenital malformation of the right heart (HP:0011723) | 3.70348296 |
| 9 | Double outlet right ventricle (HP:0001719) | 3.70348296 |
| 10 | Horizontal nystagmus (HP:0000666) | 3.67379152 |
| 11 | Hyperkalemia (HP:0002153) | 3.65099534 |
| 12 | Action tremor (HP:0002345) | 3.61073521 |
| 13 | Facial shape deformation (HP:0011334) | 3.55542032 |
| 14 | Potter facies (HP:0002009) | 3.55542032 |
| 15 | Absent/shortened dynein arms (HP:0200106) | 3.50377046 |
| 16 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 3.50377046 |
| 17 | Attenuation of retinal blood vessels (HP:0007843) | 3.45462208 |
| 18 | Myokymia (HP:0002411) | 3.44216015 |
| 19 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.37637098 |
| 20 | Resting tremor (HP:0002322) | 3.30634629 |
| 21 | Infertility (HP:0000789) | 3.28010429 |
| 22 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.23848363 |
| 23 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.23799765 |
| 24 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.20731467 |
| 25 | Postural instability (HP:0002172) | 3.14785984 |
| 26 | Hypoplasia of the thymus (HP:0000778) | 3.09380153 |
| 27 | Renal Fanconi syndrome (HP:0001994) | 3.08948209 |
| 28 | Scanning speech (HP:0002168) | 3.08717150 |
| 29 | Dysdiadochokinesis (HP:0002075) | 3.07899439 |
| 30 | Enlarged epiphyses (HP:0010580) | 3.07803409 |
| 31 | Febrile seizures (HP:0002373) | 3.07421631 |
| 32 | Abnormal ciliary motility (HP:0012262) | 3.02710899 |
| 33 | Male infertility (HP:0003251) | 3.00971003 |
| 34 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.91914899 |
| 35 | Hypoalphalipoproteinemia (HP:0003233) | 2.88735367 |
| 36 | Nasal polyposis (HP:0100582) | 2.86189195 |
| 37 | Epiphyseal dysplasia (HP:0002656) | 2.83480167 |
| 38 | Chronic hepatic failure (HP:0100626) | 2.79147658 |
| 39 | Cone-rod dystrophy (HP:0000548) | 2.73594220 |
| 40 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.73549558 |
| 41 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.73549558 |
| 42 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.70146948 |
| 43 | Generalized aminoaciduria (HP:0002909) | 2.69121395 |
| 44 | Exertional dyspnea (HP:0002875) | 2.67672302 |
| 45 | Spastic paraparesis (HP:0002313) | 2.66064678 |
| 46 | Abnormality of macular pigmentation (HP:0008002) | 2.64847774 |
| 47 | Dysmetric saccades (HP:0000641) | 2.59394808 |
| 48 | Absence seizures (HP:0002121) | 2.54570680 |
| 49 | Abnormality of the costochondral junction (HP:0000919) | 2.50557801 |
| 50 | Hypoplastic ischia (HP:0003175) | 2.46259732 |
| 51 | Abnormal urine output (HP:0012590) | 2.45461518 |
| 52 | Tubulointerstitial abnormality (HP:0001969) | 2.42806059 |
| 53 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.40951589 |
| 54 | Abnormality of urine glucose concentration (HP:0011016) | 2.37667814 |
| 55 | Glycosuria (HP:0003076) | 2.37667814 |
| 56 | Abnormality of the ischium (HP:0003174) | 2.37348134 |
| 57 | Abnormality of potassium homeostasis (HP:0011042) | 2.37076735 |
| 58 | Subcapsular cataract (HP:0000523) | 2.36771830 |
| 59 | Abnormality of the nasal mucosa (HP:0000433) | 2.33321832 |
| 60 | Progressive sensorineural hearing impairment (HP:0000408) | 2.32051463 |
| 61 | Abnormality of renal resorption (HP:0011038) | 2.30958983 |
| 62 | Widely patent fontanelles and sutures (HP:0004492) | 2.30435205 |
| 63 | Peripheral hypomyelination (HP:0007182) | 2.28609311 |
| 64 | Neoplasm of the heart (HP:0100544) | 2.22120376 |
| 65 | Intention tremor (HP:0002080) | 2.16294034 |
| 66 | Abnormal ventriculo-arterial connection (HP:0011563) | 2.15761361 |
| 67 | Transposition of the great arteries (HP:0001669) | 2.15761361 |
| 68 | Abnormal connection of the cardiac segments (HP:0011545) | 2.15761361 |
| 69 | Abnormality of renal excretion (HP:0011036) | 2.09299388 |
| 70 | Stage 5 chronic kidney disease (HP:0003774) | 2.07863855 |
| 71 | Abnormal spermatogenesis (HP:0008669) | 2.07486606 |
| 72 | Abnormal drinking behavior (HP:0030082) | 2.07471668 |
| 73 | Polydipsia (HP:0001959) | 2.07471668 |
| 74 | Confusion (HP:0001289) | 2.06965732 |
| 75 | Portal hypertension (HP:0001409) | 2.04063984 |
| 76 | Focal motor seizures (HP:0011153) | 2.04042456 |
| 77 | Azoospermia (HP:0000027) | 2.03646212 |
| 78 | Retinal dysplasia (HP:0007973) | 2.03538802 |
| 79 | Osteomalacia (HP:0002749) | 2.01893620 |
| 80 | Polar cataract (HP:0010696) | 2.01362590 |
| 81 | Type 2 muscle fiber atrophy (HP:0003554) | 2.00186169 |
| 82 | Rhinitis (HP:0012384) | 2.00167170 |
| 83 | Hemiparesis (HP:0001269) | 2.00056714 |
| 84 | Hypophosphatemic rickets (HP:0004912) | 1.96113303 |
| 85 | Epileptic encephalopathy (HP:0200134) | 1.94918416 |
| 86 | Hypoglycemic seizures (HP:0002173) | 1.94515970 |
| 87 | Muscle fiber atrophy (HP:0100295) | 1.94447302 |
| 88 | Abnormality of the pubic bones (HP:0003172) | 1.93836408 |
| 89 | Hypolipoproteinemia (HP:0010981) | 1.93426139 |
| 90 | Menstrual irregularities (HP:0000858) | 1.91639093 |
| 91 | Dysmetria (HP:0001310) | 1.88902177 |
| 92 | Abnormality of the hepatic vasculature (HP:0006707) | 1.87008826 |
| 93 | Abnormality of saccadic eye movements (HP:0000570) | 1.86553184 |
| 94 | Nephronophthisis (HP:0000090) | 1.86213137 |
| 95 | Abnormality of the vitreous humor (HP:0004327) | 1.86011568 |
| 96 | Increased circulating renin level (HP:0000848) | 1.84872397 |
| 97 | Abnormality of the parathyroid morphology (HP:0011766) | 1.84509718 |
| 98 | Dialeptic seizures (HP:0011146) | 1.83525326 |
| 99 | Truncal obesity (HP:0001956) | 1.82829369 |
| 100 | Decreased central vision (HP:0007663) | 1.80032065 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.10769634 |
| 2 | DDR2 | 5.38824866 |
| 3 | TESK1 | 3.97044239 |
| 4 | MAPK15 | 3.68542737 |
| 5 | INSRR | 3.08344586 |
| 6 | PNCK | 3.02632132 |
| 7 | BRD4 | 2.64929307 |
| 8 | MAP4K2 | 2.37473325 |
| 9 | STK38 | 2.18959707 |
| 10 | PLK2 | 2.11654308 |
| 11 | MAP3K11 | 1.92581953 |
| 12 | MAP3K2 | 1.76805037 |
| 13 | PRKD3 | 1.75177833 |
| 14 | RIPK4 | 1.68514938 |
| 15 | STK38L | 1.60175946 |
| 16 | PDK1 | 1.58382827 |
| 17 | TYRO3 | 1.48973923 |
| 18 | WNK1 | 1.48062643 |
| 19 | PDPK1 | 1.44809418 |
| 20 | CASK | 1.43607696 |
| 21 | DYRK1B | 1.42022910 |
| 22 | CAMK1G | 1.37360627 |
| 23 | MST1R | 1.31550697 |
| 24 | CDK3 | 1.31036336 |
| 25 | PIK3CG | 1.23530917 |
| 26 | MAP3K10 | 1.21164873 |
| 27 | FGFR4 | 1.19163609 |
| 28 | MAP3K1 | 1.12360571 |
| 29 | NME1 | 1.11722071 |
| 30 | KSR2 | 1.01240247 |
| 31 | MARK1 | 0.96502432 |
| 32 | AKT3 | 0.94346764 |
| 33 | FGFR3 | 0.92424542 |
| 34 | EPHB1 | 0.88970986 |
| 35 | PRKG1 | 0.88390442 |
| 36 | MAP2K2 | 0.85996475 |
| 37 | ERN1 | 0.84241012 |
| 38 | GRK5 | 0.83494019 |
| 39 | TAF1 | 0.82519304 |
| 40 | NEK6 | 0.80548857 |
| 41 | EPHA3 | 0.79447556 |
| 42 | CDK12 | 0.73954922 |
| 43 | NTRK3 | 0.73763929 |
| 44 | ACVR1B | 0.73338944 |
| 45 | PRKG2 | 0.71579404 |
| 46 | STK39 | 0.70014230 |
| 47 | MAP3K9 | 0.68340302 |
| 48 | BRAF | 0.67539326 |
| 49 | WNK4 | 0.62342303 |
| 50 | SGK494 | 0.61934912 |
| 51 | SGK223 | 0.61934912 |
| 52 | MAP3K4 | 0.59998102 |
| 53 | LATS2 | 0.59885008 |
| 54 | SIK2 | 0.58460592 |
| 55 | RPS6KA1 | 0.57386840 |
| 56 | DYRK3 | 0.54346821 |
| 57 | SGK1 | 0.53140411 |
| 58 | PRKCG | 0.51314947 |
| 59 | PRKAA2 | 0.50770626 |
| 60 | RET | 0.50282749 |
| 61 | CAMK4 | 0.47615386 |
| 62 | IRAK1 | 0.47562736 |
| 63 | CDK7 | 0.44737734 |
| 64 | CAMK1D | 0.40503253 |
| 65 | RPS6KA2 | 0.39415796 |
| 66 | MAP3K12 | 0.38873102 |
| 67 | PRKCZ | 0.38702303 |
| 68 | SGK2 | 0.38585394 |
| 69 | PASK | 0.38362165 |
| 70 | ROCK1 | 0.38171868 |
| 71 | MAPK10 | 0.37410256 |
| 72 | OBSCN | 0.37255434 |
| 73 | CAMK2A | 0.35756646 |
| 74 | MTOR | 0.35538439 |
| 75 | CAMK1 | 0.35293346 |
| 76 | MAPK1 | 0.35028445 |
| 77 | PHKG2 | 0.34067273 |
| 78 | PHKG1 | 0.34067273 |
| 79 | PRKCB | 0.33593674 |
| 80 | GSK3B | 0.32985762 |
| 81 | MAPK8 | 0.32946997 |
| 82 | OXSR1 | 0.31436063 |
| 83 | MAP2K7 | 0.31093010 |
| 84 | TIE1 | 0.29802654 |
| 85 | RPS6KA3 | 0.29528218 |
| 86 | PRKCE | 0.29211173 |
| 87 | BMPR2 | 0.28950179 |
| 88 | PKN1 | 0.28512569 |
| 89 | PDGFRA | 0.26940318 |
| 90 | SGK3 | 0.24032419 |
| 91 | JAK2 | 0.23948871 |
| 92 | EPHB2 | 0.23705745 |
| 93 | NTRK2 | 0.23585972 |
| 94 | PKN2 | 0.23377103 |
| 95 | PRKACA | 0.23288721 |
| 96 | FGFR1 | 0.22637215 |
| 97 | PRKAA1 | 0.22377430 |
| 98 | MAP3K8 | 0.21697499 |
| 99 | MAP2K4 | 0.20842449 |
| 100 | CDK5 | 0.20369504 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.75051912 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.68902204 |
| 3 | Nitrogen metabolism_Homo sapiens_hsa00910 | 3.29782623 |
| 4 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 2.60752052 |
| 5 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 2.53908133 |
| 6 | Olfactory transduction_Homo sapiens_hsa04740 | 2.24169572 |
| 7 | Arginine biosynthesis_Homo sapiens_hsa00220 | 2.22550725 |
| 8 | GABAergic synapse_Homo sapiens_hsa04727 | 2.04833589 |
| 9 | Morphine addiction_Homo sapiens_hsa05032 | 2.03420191 |
| 10 | Nicotine addiction_Homo sapiens_hsa05033 | 1.93948498 |
| 11 | Circadian entrainment_Homo sapiens_hsa04713 | 1.88471212 |
| 12 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.88223602 |
| 13 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.84257101 |
| 14 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.81862841 |
| 15 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.72747574 |
| 16 | Long-term depression_Homo sapiens_hsa04730 | 1.67328315 |
| 17 | Taste transduction_Homo sapiens_hsa04742 | 1.67093392 |
| 18 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.58767604 |
| 19 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.55898909 |
| 20 | Renin-angiotensin system_Homo sapiens_hsa04614 | 1.54980448 |
| 21 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.53846018 |
| 22 | ABC transporters_Homo sapiens_hsa02010 | 1.50606635 |
| 23 | Renin secretion_Homo sapiens_hsa04924 | 1.45716044 |
| 24 | Gastric acid secretion_Homo sapiens_hsa04971 | 1.44407814 |
| 25 | Salivary secretion_Homo sapiens_hsa04970 | 1.39392563 |
| 26 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.34343520 |
| 27 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.27078914 |
| 28 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.26903768 |
| 29 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.25347927 |
| 30 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.25185695 |
| 31 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.24545784 |
| 32 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.22285478 |
| 33 | Long-term potentiation_Homo sapiens_hsa04720 | 1.19012968 |
| 34 | Cholinergic synapse_Homo sapiens_hsa04725 | 1.18261234 |
| 35 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.17749814 |
| 36 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.12376705 |
| 37 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.12053039 |
| 38 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.11436390 |
| 39 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 1.05044490 |
| 40 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.04789869 |
| 41 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 1.01759678 |
| 42 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 1.01547356 |
| 43 | Pancreatic secretion_Homo sapiens_hsa04972 | 1.00030341 |
| 44 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.99347803 |
| 45 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.98989970 |
| 46 | Bile secretion_Homo sapiens_hsa04976 | 0.97397356 |
| 47 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.96262775 |
| 48 | Histidine metabolism_Homo sapiens_hsa00340 | 0.96064643 |
| 49 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.94808345 |
| 50 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.94448751 |
| 51 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.94273933 |
| 52 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.93346529 |
| 53 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.84935574 |
| 54 | Cocaine addiction_Homo sapiens_hsa05030 | 0.82140350 |
| 55 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.81172329 |
| 56 | Insulin secretion_Homo sapiens_hsa04911 | 0.80698090 |
| 57 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.78951997 |
| 58 | Mineral absorption_Homo sapiens_hsa04978 | 0.76668287 |
| 59 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.74034476 |
| 60 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.73637304 |
| 61 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.71849808 |
| 62 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.69114134 |
| 63 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.68416655 |
| 64 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.67056283 |
| 65 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.65703462 |
| 66 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.64331992 |
| 67 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.61636618 |
| 68 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.58612464 |
| 69 | Retinol metabolism_Homo sapiens_hsa00830 | 0.58467509 |
| 70 | Carbon metabolism_Homo sapiens_hsa01200 | 0.58132768 |
| 71 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.57664135 |
| 72 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.57618269 |
| 73 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.57107371 |
| 74 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.55435330 |
| 75 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.55082550 |
| 76 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.52336957 |
| 77 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.52139945 |
| 78 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.51669432 |
| 79 | Gap junction_Homo sapiens_hsa04540 | 0.48905720 |
| 80 | Huntingtons disease_Homo sapiens_hsa05016 | 0.48563193 |
| 81 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.48131035 |
| 82 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.48110897 |
| 83 | Circadian rhythm_Homo sapiens_hsa04710 | 0.46429258 |
| 84 | Tight junction_Homo sapiens_hsa04530 | 0.45516194 |
| 85 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.39890506 |
| 86 | Prion diseases_Homo sapiens_hsa05020 | 0.35743501 |
| 87 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.32345498 |
| 88 | Endocytosis_Homo sapiens_hsa04144 | 0.32319831 |
| 89 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.31248148 |
| 90 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.30586598 |
| 91 | Alzheimers disease_Homo sapiens_hsa05010 | 0.30372054 |
| 92 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.30146166 |
| 93 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.29026949 |
| 94 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.28418641 |
| 95 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.26580832 |
| 96 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 0.26052590 |
| 97 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.25152112 |
| 98 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.23145964 |
| 99 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.22846336 |
| 100 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.21113490 |

