

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm capacitation (GO:0048240) | 8.78211375 |
| 2 | response to pheromone (GO:0019236) | 8.58067723 |
| 3 | plasma membrane fusion (GO:0045026) | 8.57307629 |
| 4 | chromosome condensation (GO:0030261) | 8.30905457 |
| 5 | DNA packaging (GO:0006323) | 8.05656451 |
| 6 | microtubule depolymerization (GO:0007019) | 7.61607844 |
| 7 | spermatid development (GO:0007286) | 7.41298424 |
| 8 | single strand break repair (GO:0000012) | 7.31793969 |
| 9 | protein polyglutamylation (GO:0018095) | 7.27394483 |
| 10 | protein targeting to Golgi (GO:0000042) | 7.02824221 |
| 11 | sperm-egg recognition (GO:0035036) | 6.91357096 |
| 12 | establishment of protein localization to Golgi (GO:0072600) | 6.85338388 |
| 13 | multicellular organism reproduction (GO:0032504) | 6.84778185 |
| 14 | microtubule polymerization or depolymerization (GO:0031109) | 6.63846161 |
| 15 | calcium ion-dependent exocytosis (GO:0017156) | 6.58813781 |
| 16 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.56926779 |
| 17 | spermatid nucleus differentiation (GO:0007289) | 6.37301373 |
| 18 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.30957516 |
| 19 | reproduction (GO:0000003) | 6.21489098 |
| 20 | centriole replication (GO:0007099) | 6.10357087 |
| 21 | binding of sperm to zona pellucida (GO:0007339) | 5.96855260 |
| 22 | rRNA methylation (GO:0031167) | 5.90782527 |
| 23 | spermatogenesis (GO:0007283) | 5.86037524 |
| 24 | male gamete generation (GO:0048232) | 5.83901366 |
| 25 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.80319982 |
| 26 | cell-cell recognition (GO:0009988) | 5.69745147 |
| 27 | axonemal dynein complex assembly (GO:0070286) | 5.59166916 |
| 28 | microtubule severing (GO:0051013) | 5.53332629 |
| 29 | regulation of Rab GTPase activity (GO:0032313) | 5.48551064 |
| 30 | positive regulation of Rab GTPase activity (GO:0032851) | 5.48551064 |
| 31 | negative regulation of inclusion body assembly (GO:0090084) | 5.39643708 |
| 32 | sexual reproduction (GO:0019953) | 5.37536783 |
| 33 | regulation of transcription involved in cell fate commitment (GO:0060850) | 5.36388207 |
| 34 | gamete generation (GO:0007276) | 5.35201884 |
| 35 | centriole assembly (GO:0098534) | 5.33745838 |
| 36 | regulation of centriole replication (GO:0046599) | 5.13808115 |
| 37 | protein localization to Golgi apparatus (GO:0034067) | 4.98332467 |
| 38 | rRNA modification (GO:0000154) | 4.97090643 |
| 39 | seminiferous tubule development (GO:0072520) | 4.85743831 |
| 40 | regulation of cilium movement (GO:0003352) | 4.80567422 |
| 41 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.79849919 |
| 42 | cell wall macromolecule metabolic process (GO:0044036) | 4.76586576 |
| 43 | cell wall macromolecule catabolic process (GO:0016998) | 4.72701651 |
| 44 | single fertilization (GO:0007338) | 4.71245364 |
| 45 | cellular ketone body metabolic process (GO:0046950) | 4.66064095 |
| 46 | motile cilium assembly (GO:0044458) | 4.60093176 |
| 47 | RNA destabilization (GO:0050779) | 4.48037396 |
| 48 | musculoskeletal movement (GO:0050881) | 4.32984247 |
| 49 | multicellular organismal movement (GO:0050879) | 4.32984247 |
| 50 | multicellular organismal reproductive process (GO:0048609) | 4.27276243 |
| 51 | germ cell development (GO:0007281) | 4.17799939 |
| 52 | ketone body metabolic process (GO:1902224) | 4.09672495 |
| 53 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.07410535 |
| 54 | coenzyme catabolic process (GO:0009109) | 4.02948652 |
| 55 | fertilization (GO:0009566) | 4.02120079 |
| 56 | epithelial cilium movement (GO:0003351) | 3.98180163 |
| 57 | regulation of inclusion body assembly (GO:0090083) | 3.93716857 |
| 58 | chromatin silencing (GO:0006342) | 3.80653465 |
| 59 | organic cation transport (GO:0015695) | 3.73085650 |
| 60 | regulation of microtubule-based movement (GO:0060632) | 3.66793047 |
| 61 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.61182467 |
| 62 | Golgi to endosome transport (GO:0006895) | 3.57923633 |
| 63 | cilium movement (GO:0003341) | 3.54080362 |
| 64 | nucleus organization (GO:0006997) | 3.49028202 |
| 65 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.48061284 |
| 66 | regulation of somitogenesis (GO:0014807) | 3.40099470 |
| 67 | microtubule nucleation (GO:0007020) | 3.34017546 |
| 68 | response to acidic pH (GO:0010447) | 3.28043655 |
| 69 | cerebral cortex neuron differentiation (GO:0021895) | 3.26543916 |
| 70 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.26412147 |
| 71 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.22044097 |
| 72 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 3.14549803 |
| 73 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 3.14549803 |
| 74 | NAD biosynthetic process (GO:0009435) | 3.12876035 |
| 75 | polyamine biosynthetic process (GO:0006596) | 3.12596336 |
| 76 | cellular response to pH (GO:0071467) | 3.10804816 |
| 77 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.10130985 |
| 78 | glycerol ether metabolic process (GO:0006662) | 3.07927220 |
| 79 | regulation of interleukin-13 production (GO:0032656) | 2.96487434 |
| 80 | multicellular organismal development (GO:0007275) | 2.84082800 |
| 81 | ether metabolic process (GO:0018904) | 2.83917578 |
| 82 | cell recognition (GO:0008037) | 2.82802920 |
| 83 | regulation of T-helper 2 cell differentiation (GO:0045628) | 2.81470094 |
| 84 | protein depolymerization (GO:0051261) | 2.80625646 |
| 85 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.79948018 |
| 86 | histone H3-K9 demethylation (GO:0033169) | 2.74517134 |
| 87 | homeostasis of number of cells within a tissue (GO:0048873) | 2.74248255 |
| 88 | outer ear morphogenesis (GO:0042473) | 2.74127530 |
| 89 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.73146726 |
| 90 | nucleosome disassembly (GO:0006337) | 2.72470951 |
| 91 | protein-DNA complex disassembly (GO:0032986) | 2.72470951 |
| 92 | regulation of female gonad development (GO:2000194) | 2.71005987 |
| 93 | cell differentiation involved in metanephros development (GO:0072202) | 2.70399915 |
| 94 | receptor recycling (GO:0001881) | 2.70022347 |
| 95 | vesicle transport along microtubule (GO:0047496) | 2.66776815 |
| 96 | cranial nerve morphogenesis (GO:0021602) | 2.63509970 |
| 97 | neurofilament cytoskeleton organization (GO:0060052) | 2.61497767 |
| 98 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.3189478 |
| 99 | acrosome reaction (GO:0007340) | 11.2957976 |
| 100 | sperm motility (GO:0030317) | 11.1729587 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.79663871 |
| 2 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.45275929 |
| 3 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.95921461 |
| 4 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.69143403 |
| 5 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.41551620 |
| 6 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.31980989 |
| 7 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.30242187 |
| 8 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.24510717 |
| 9 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.24510717 |
| 10 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.15139037 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.15139037 |
| 12 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.05688864 |
| 13 | FUS_26573619_Chip-Seq_HEK293_Human | 1.94852984 |
| 14 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.92603934 |
| 15 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.89860608 |
| 16 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.86361745 |
| 17 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.81925101 |
| 18 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.81763530 |
| 19 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.80038779 |
| 20 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.74525836 |
| 21 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.72950754 |
| 22 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.72891911 |
| 23 | ERA_21632823_ChIP-Seq_H3396_Human | 1.72835384 |
| 24 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.70370244 |
| 25 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.70263258 |
| 26 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.67060089 |
| 27 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.65844168 |
| 28 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.60968776 |
| 29 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.60025397 |
| 30 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.59829754 |
| 31 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.58880665 |
| 32 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.56091114 |
| 33 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.55615838 |
| 34 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.55536756 |
| 35 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.53157121 |
| 36 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.51362284 |
| 37 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.51051023 |
| 38 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.50981834 |
| 39 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.50684630 |
| 40 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.50608846 |
| 41 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.48201584 |
| 42 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.47296072 |
| 43 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.45459718 |
| 44 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.44230010 |
| 45 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.43189482 |
| 46 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.42431915 |
| 47 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.42323964 |
| 48 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.38434409 |
| 49 | P68_20966046_ChIP-Seq_HELA_Human | 1.38214634 |
| 50 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.35781501 |
| 51 | AR_25329375_ChIP-Seq_VCAP_Human | 1.35775208 |
| 52 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.35463944 |
| 53 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.35273794 |
| 54 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.33249718 |
| 55 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.33171378 |
| 56 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.31997714 |
| 57 | P300_19829295_ChIP-Seq_ESCs_Human | 1.31562601 |
| 58 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.30127218 |
| 59 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.29502963 |
| 60 | P300_27268052_Chip-Seq_Bcells_Human | 1.28805851 |
| 61 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.27598578 |
| 62 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.25885544 |
| 63 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.24913110 |
| 64 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.24742960 |
| 65 | NFYB_21822215_ChIP-Seq_K562_Human | 1.24466326 |
| 66 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.24005833 |
| 67 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.23973708 |
| 68 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.23365332 |
| 69 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.22896223 |
| 70 | TBL1_22424771_ChIP-Seq_293T_Human | 1.22710832 |
| 71 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.20394241 |
| 72 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.19924824 |
| 73 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.19860213 |
| 74 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.19132731 |
| 75 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.19074789 |
| 76 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.19064745 |
| 77 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.18718316 |
| 78 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.17586613 |
| 79 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.17143996 |
| 80 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.16943406 |
| 81 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.15030473 |
| 82 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.13717534 |
| 83 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.13652735 |
| 84 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.11682262 |
| 85 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.09262169 |
| 86 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.08634497 |
| 87 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.08496558 |
| 88 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.08109166 |
| 89 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.07941080 |
| 90 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.07730293 |
| 91 | STAT3_23295773_ChIP-Seq_U87_Human | 1.05351549 |
| 92 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.05079857 |
| 93 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.04788566 |
| 94 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.04788566 |
| 95 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.04031329 |
| 96 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.03373858 |
| 97 | NFYA_21822215_ChIP-Seq_K562_Human | 1.02835752 |
| 98 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.02790214 |
| 99 | SA1_27219007_Chip-Seq_Bcells_Human | 1.01703662 |
| 100 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.01205096 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0002822_catalepsy | 5.32619731 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 4.99173720 |
| 3 | MP0003878_abnormal_ear_physiology | 4.99173720 |
| 4 | MP0005670_abnormal_white_adipose | 4.57317596 |
| 5 | MP0003698_abnormal_male_reproductive | 3.90808286 |
| 6 | MP0001929_abnormal_gametogenesis | 3.38241254 |
| 7 | MP0001348_abnormal_lacrimal_gland | 2.68811289 |
| 8 | MP0000678_abnormal_parathyroid_gland | 2.25836673 |
| 9 | MP0003646_muscle_fatigue | 2.23589623 |
| 10 | MP0002161_abnormal_fertility/fecundity | 2.20367306 |
| 11 | MP0005410_abnormal_fertilization | 10.6130969 |
| 12 | MP0003718_maternal_effect | 1.98962816 |
| 13 | MP0005423_abnormal_somatic_nervous | 1.84500547 |
| 14 | MP0001485_abnormal_pinna_reflex | 1.81841986 |
| 15 | MP0005451_abnormal_body_composition | 1.80974841 |
| 16 | MP0001486_abnormal_startle_reflex | 1.60780216 |
| 17 | MP0002210_abnormal_sex_determination | 1.54958575 |
| 18 | MP0004742_abnormal_vestibular_system | 1.54733952 |
| 19 | MP0001905_abnormal_dopamine_level | 1.52997623 |
| 20 | MP0004859_abnormal_synaptic_plasticity | 1.50108978 |
| 21 | MP0005379_endocrine/exocrine_gland_phen | 1.49076547 |
| 22 | MP0002735_abnormal_chemical_nociception | 1.44284801 |
| 23 | MP0003879_abnormal_hair_cell | 1.38872058 |
| 24 | MP0002234_abnormal_pharynx_morphology | 1.36296161 |
| 25 | MP0002132_abnormal_respiratory_system | 1.35289624 |
| 26 | MP0002249_abnormal_larynx_morphology | 1.34332523 |
| 27 | MP0003011_delayed_dark_adaptation | 1.33751275 |
| 28 | MP0001765_abnormal_ion_homeostasis | 1.33117280 |
| 29 | MP0008569_lethality_at_weaning | 1.32800929 |
| 30 | MP0001968_abnormal_touch/_nociception | 1.32536616 |
| 31 | MP0009046_muscle_twitch | 1.31056527 |
| 32 | MP0001963_abnormal_hearing_physiology | 1.29505560 |
| 33 | MP0000653_abnormal_sex_gland | 1.26644027 |
| 34 | MP0001145_abnormal_male_reproductive | 1.26600705 |
| 35 | MP0000569_abnormal_digit_pigmentation | 1.20344919 |
| 36 | MP0002138_abnormal_hepatobiliary_system | 1.18099060 |
| 37 | MP0002229_neurodegeneration | 1.15422031 |
| 38 | MP0005310_abnormal_salivary_gland | 1.12267532 |
| 39 | MP0000026_abnormal_inner_ear | 1.09840448 |
| 40 | MP0000534_abnormal_ureter_morphology | 1.08081989 |
| 41 | MP0001529_abnormal_vocalization | 1.06920194 |
| 42 | MP0000955_abnormal_spinal_cord | 1.06679963 |
| 43 | MP0004510_myositis | 1.06275721 |
| 44 | MP0002067_abnormal_sensory_capabilities | 1.06157536 |
| 45 | MP0002557_abnormal_social/conspecific_i | 1.04285418 |
| 46 | MP0002282_abnormal_trachea_morphology | 1.03644418 |
| 47 | MP0001440_abnormal_grooming_behavior | 1.00342106 |
| 48 | MP0005551_abnormal_eye_electrophysiolog | 0.99978321 |
| 49 | MP0005083_abnormal_biliary_tract | 0.98914419 |
| 50 | MP0000049_abnormal_middle_ear | 0.98734583 |
| 51 | MP0003329_amyloid_beta_deposits | 0.97325326 |
| 52 | MP0002572_abnormal_emotion/affect_behav | 0.96268980 |
| 53 | MP0002733_abnormal_thermal_nociception | 0.93622930 |
| 54 | MP0002272_abnormal_nervous_system | 0.92723751 |
| 55 | MP0009053_abnormal_anal_canal | 0.92403031 |
| 56 | MP0004085_abnormal_heartbeat | 0.91116278 |
| 57 | MP0005395_other_phenotype | 0.89636386 |
| 58 | MP0009745_abnormal_behavioral_response | 0.88549248 |
| 59 | MP0006276_abnormal_autonomic_nervous | 0.86918686 |
| 60 | MP0002127_abnormal_cardiovascular_syste | 0.84551763 |
| 61 | MP0005253_abnormal_eye_physiology | 0.77621902 |
| 62 | MP0001501_abnormal_sleep_pattern | 0.77597555 |
| 63 | MP0003880_abnormal_central_pattern | 0.77547804 |
| 64 | MP0003137_abnormal_impulse_conducting | 0.73257221 |
| 65 | MP0001188_hyperpigmentation | 0.72808626 |
| 66 | MP0003635_abnormal_synaptic_transmissio | 0.71701261 |
| 67 | MP0000566_synostosis | 0.71241316 |
| 68 | MP0008877_abnormal_DNA_methylation | 0.71131867 |
| 69 | MP0005085_abnormal_gallbladder_physiolo | 0.70698830 |
| 70 | MP0001666_abnormal_nutrient_absorption | 0.70488211 |
| 71 | MP0001970_abnormal_pain_threshold | 0.68922263 |
| 72 | MP0000681_abnormal_thyroid_gland | 0.62954204 |
| 73 | MP0005636_abnormal_mineral_homeostasis | 0.61837429 |
| 74 | MP0005248_abnormal_Harderian_gland | 0.61834707 |
| 75 | MP0005666_abnormal_adipose_tissue | 0.61603091 |
| 76 | MP0002734_abnormal_mechanical_nocicepti | 0.61469483 |
| 77 | MP0000015_abnormal_ear_pigmentation | 0.61332428 |
| 78 | MP0009115_abnormal_fat_cell | 0.57354382 |
| 79 | MP0005375_adipose_tissue_phenotype | 0.54435616 |
| 80 | MP0008789_abnormal_olfactory_epithelium | 0.53843429 |
| 81 | MP0005535_abnormal_body_temperature | 0.52694999 |
| 82 | MP0000516_abnormal_urinary_system | 0.51712846 |
| 83 | MP0005367_renal/urinary_system_phenotyp | 0.51712846 |
| 84 | MP0001270_distended_abdomen | 0.50873070 |
| 85 | MP0004484_altered_response_of | 0.50621107 |
| 86 | MP0003632_abnormal_nervous_system | 0.50049710 |
| 87 | MP0004811_abnormal_neuron_physiology | 0.49926084 |
| 88 | MP0003693_abnormal_embryo_hatching | 0.49789983 |
| 89 | MP0000003_abnormal_adipose_tissue | 0.49205176 |
| 90 | MP0004233_abnormal_muscle_weight | 0.49199246 |
| 91 | MP0000470_abnormal_stomach_morphology | 0.48828088 |
| 92 | MP0003631_nervous_system_phenotype | 0.47985377 |
| 93 | MP0002064_seizures | 0.47022391 |
| 94 | MP0002882_abnormal_neuron_morphology | 0.45747695 |
| 95 | MP0000230_abnormal_systemic_arterial | 0.42782453 |
| 96 | MP0008995_early_reproductive_senescence | 0.41723951 |
| 97 | MP0009697_abnormal_copulation | 0.40944306 |
| 98 | MP0004270_analgesia | 0.40870573 |
| 99 | MP0000604_amyloidosis | 0.39704751 |
| 100 | MP0005332_abnormal_amino_acid | 0.39115203 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.57893287 |
| 2 | Asymmetric septal hypertrophy (HP:0001670) | 5.77549800 |
| 3 | Attenuation of retinal blood vessels (HP:0007843) | 5.03964783 |
| 4 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.00128032 |
| 5 | Absent/shortened dynein arms (HP:0200106) | 5.00128032 |
| 6 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.94032222 |
| 7 | Bell-shaped thorax (HP:0001591) | 4.71262872 |
| 8 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.49640292 |
| 9 | Tubulointerstitial nephritis (HP:0001970) | 4.37457062 |
| 10 | Hypoplastic ischia (HP:0003175) | 4.25174249 |
| 11 | Male infertility (HP:0003251) | 4.16436295 |
| 12 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.11847039 |
| 13 | Hyperkalemia (HP:0002153) | 4.10158911 |
| 14 | Chronic hepatic failure (HP:0100626) | 4.09702618 |
| 15 | Abnormal ciliary motility (HP:0012262) | 4.05271513 |
| 16 | Resting tremor (HP:0002322) | 3.94728971 |
| 17 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.90473964 |
| 18 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.82848070 |
| 19 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.82848070 |
| 20 | Enlarged epiphyses (HP:0010580) | 3.82694035 |
| 21 | Facial shape deformation (HP:0011334) | 3.81599944 |
| 22 | Potter facies (HP:0002009) | 3.81599944 |
| 23 | Abnormality of the ischium (HP:0003174) | 3.73183024 |
| 24 | Abnormality of macular pigmentation (HP:0008002) | 3.72485331 |
| 25 | Progressive cerebellar ataxia (HP:0002073) | 3.68944085 |
| 26 | Nephronophthisis (HP:0000090) | 3.63639567 |
| 27 | Infertility (HP:0000789) | 3.62816560 |
| 28 | Cone-rod dystrophy (HP:0000548) | 3.47600668 |
| 29 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.45349607 |
| 30 | Postural instability (HP:0002172) | 3.44174536 |
| 31 | Impulsivity (HP:0100710) | 3.35182883 |
| 32 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.34449368 |
| 33 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.30750615 |
| 34 | Nasal polyposis (HP:0100582) | 3.29411714 |
| 35 | Truncal obesity (HP:0001956) | 3.27465576 |
| 36 | Epiphyseal dysplasia (HP:0002656) | 3.26532751 |
| 37 | Amelogenesis imperfecta (HP:0000705) | 3.08799147 |
| 38 | Hypoplasia of the thymus (HP:0000778) | 3.01406878 |
| 39 | Abnormality of the renal medulla (HP:0100957) | 2.93151468 |
| 40 | Abnormality of dental color (HP:0011073) | 2.88397791 |
| 41 | Abnormal spermatogenesis (HP:0008669) | 2.85156431 |
| 42 | Abnormal urine output (HP:0012590) | 2.79399243 |
| 43 | Generalized aminoaciduria (HP:0002909) | 2.77860899 |
| 44 | Unilateral renal agenesis (HP:0000122) | 2.75740714 |
| 45 | Abnormality of the aortic arch (HP:0012303) | 2.63374206 |
| 46 | Menstrual irregularities (HP:0000858) | 2.59729806 |
| 47 | Abnormality of the nasal mucosa (HP:0000433) | 2.56862371 |
| 48 | Azoospermia (HP:0000027) | 2.56858344 |
| 49 | Abnormal drinking behavior (HP:0030082) | 2.47729911 |
| 50 | Polydipsia (HP:0001959) | 2.47729911 |
| 51 | Abnormality of potassium homeostasis (HP:0011042) | 2.45875450 |
| 52 | Hypoalphalipoproteinemia (HP:0003233) | 2.43957442 |
| 53 | Stage 5 chronic kidney disease (HP:0003774) | 2.41882707 |
| 54 | Abnormality of renal excretion (HP:0011036) | 2.40855687 |
| 55 | Failure to thrive in infancy (HP:0001531) | 2.40781568 |
| 56 | Mixed hearing impairment (HP:0000410) | 2.35337389 |
| 57 | Tubulointerstitial abnormality (HP:0001969) | 2.31596116 |
| 58 | Progressive sensorineural hearing impairment (HP:0000408) | 2.30335925 |
| 59 | Rhinitis (HP:0012384) | 2.29533165 |
| 60 | Congenital malformation of the right heart (HP:0011723) | 2.28363510 |
| 61 | Double outlet right ventricle (HP:0001719) | 2.28363510 |
| 62 | Abnormality of the costochondral junction (HP:0000919) | 2.27930670 |
| 63 | Polyuria (HP:0000103) | 2.22965571 |
| 64 | Portal hypertension (HP:0001409) | 2.22927893 |
| 65 | Hypophosphatemic rickets (HP:0004912) | 2.22098880 |
| 66 | Abnormality of the parathyroid morphology (HP:0011766) | 2.16684560 |
| 67 | Renovascular hypertension (HP:0100817) | 2.16468031 |
| 68 | Bradycardia (HP:0001662) | 2.15222856 |
| 69 | Renal dysplasia (HP:0000110) | 2.12431341 |
| 70 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.11967358 |
| 71 | Genetic anticipation (HP:0003743) | 2.08939961 |
| 72 | Myokymia (HP:0002411) | 2.08716963 |
| 73 | Spastic paraparesis (HP:0002313) | 2.05869257 |
| 74 | Abnormality of the hepatic vasculature (HP:0006707) | 2.01567523 |
| 75 | Decreased central vision (HP:0007663) | 1.99032803 |
| 76 | Abnormality of the pubic bones (HP:0003172) | 1.97929178 |
| 77 | Ventricular tachycardia (HP:0004756) | 1.97363482 |
| 78 | Pancreatic fibrosis (HP:0100732) | 1.96066783 |
| 79 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.95862540 |
| 80 | Absent epiphyses (HP:0010577) | 1.95862540 |
| 81 | Osteomalacia (HP:0002749) | 1.88856619 |
| 82 | Bradykinesia (HP:0002067) | 1.87078826 |
| 83 | Widely patent fontanelles and sutures (HP:0004492) | 1.86195094 |
| 84 | Protuberant abdomen (HP:0001538) | 1.85269549 |
| 85 | Hyponatremia (HP:0002902) | 1.82391241 |
| 86 | Pendular nystagmus (HP:0012043) | 1.79898011 |
| 87 | Recurrent pneumonia (HP:0006532) | 1.78526918 |
| 88 | Renal Fanconi syndrome (HP:0001994) | 1.76791414 |
| 89 | Febrile seizures (HP:0002373) | 1.76410218 |
| 90 | Vertebral clefting (HP:0008428) | 1.76341782 |
| 91 | Congenital sensorineural hearing impairment (HP:0008527) | 1.76213394 |
| 92 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.70393157 |
| 93 | Short ribs (HP:0000773) | 1.70362944 |
| 94 | Tetany (HP:0001281) | 1.68677709 |
| 95 | Pancreatic cysts (HP:0001737) | 1.67516800 |
| 96 | Intellectual disability, moderate (HP:0002342) | 1.66668952 |
| 97 | Hyperuricemia (HP:0002149) | 1.66258827 |
| 98 | Increased purine levels (HP:0004368) | 1.66258827 |
| 99 | Impaired smooth pursuit (HP:0007772) | 1.64103182 |
| 100 | Photophobia (HP:0000613) | 1.63974594 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.39724054 |
| 2 | TESK1 | 5.69557546 |
| 3 | DDR2 | 5.55903780 |
| 4 | INSRR | 4.30002107 |
| 5 | PLK2 | 3.18634192 |
| 6 | PNCK | 2.71482963 |
| 7 | STK38 | 2.68565127 |
| 8 | MAP4K2 | 2.62987063 |
| 9 | BRD4 | 2.59947869 |
| 10 | MAPK15 | 2.32881460 |
| 11 | CAMK1G | 2.18168457 |
| 12 | STK38L | 1.86164992 |
| 13 | PRKD3 | 1.83562627 |
| 14 | PIK3CG | 1.59201789 |
| 15 | MST1R | 1.56096668 |
| 16 | PTK2B | 1.43779967 |
| 17 | GRK1 | 1.43424563 |
| 18 | WNK1 | 1.38552676 |
| 19 | MAP3K9 | 1.37133362 |
| 20 | PDK1 | 1.26869971 |
| 21 | PDPK1 | 1.23772266 |
| 22 | CDK7 | 1.22955805 |
| 23 | CDK12 | 1.21579537 |
| 24 | ADRBK2 | 1.20662158 |
| 25 | PINK1 | 1.15540894 |
| 26 | AKT3 | 1.01800907 |
| 27 | MAP3K11 | 1.00027727 |
| 28 | DYRK1B | 0.97453046 |
| 29 | LATS1 | 0.96095770 |
| 30 | TESK2 | 0.92730037 |
| 31 | NTRK3 | 0.92285325 |
| 32 | STK16 | 0.91832052 |
| 33 | NEK6 | 0.89488631 |
| 34 | CAMK1D | 0.81772596 |
| 35 | PRKG2 | 0.79378727 |
| 36 | SIK2 | 0.78697021 |
| 37 | KSR2 | 0.78461776 |
| 38 | MAP3K2 | 0.77555695 |
| 39 | WNK4 | 0.76868637 |
| 40 | FRK | 0.76218019 |
| 41 | RPS6KA2 | 0.72585192 |
| 42 | PRKG1 | 0.72261214 |
| 43 | STK39 | 0.70317767 |
| 44 | CDK3 | 0.70260574 |
| 45 | MAP2K2 | 0.70204978 |
| 46 | TYRO3 | 0.66593468 |
| 47 | MAP3K1 | 0.63373549 |
| 48 | UHMK1 | 0.58912463 |
| 49 | BRAF | 0.57654750 |
| 50 | RPS6KA1 | 0.57637879 |
| 51 | PRKCG | 0.55471916 |
| 52 | RPS6KC1 | 0.53039153 |
| 53 | RPS6KL1 | 0.53039153 |
| 54 | RPS6KA6 | 0.50052956 |
| 55 | PRKAA2 | 0.48906915 |
| 56 | MAP3K4 | 0.46690287 |
| 57 | CDK2 | 0.45825797 |
| 58 | CAMK1 | 0.45672208 |
| 59 | MAP3K8 | 0.42581720 |
| 60 | GSK3B | 0.42439325 |
| 61 | ZAK | 0.40800603 |
| 62 | LATS2 | 0.39926146 |
| 63 | MAPK1 | 0.39285429 |
| 64 | TLK1 | 0.37907014 |
| 65 | JAK3 | 0.37506977 |
| 66 | FGFR3 | 0.36814270 |
| 67 | SGK1 | 0.35773072 |
| 68 | PRKCE | 0.35327680 |
| 69 | ROCK1 | 0.34845069 |
| 70 | PRKCB | 0.32936869 |
| 71 | MUSK | 0.31842677 |
| 72 | BMPR1B | 0.31382840 |
| 73 | MAPK8 | 0.30314866 |
| 74 | CDK1 | 0.29839450 |
| 75 | SGK223 | 0.27436877 |
| 76 | SGK494 | 0.27436877 |
| 77 | MTOR | 0.26754404 |
| 78 | NUAK1 | 0.23792526 |
| 79 | CAMK4 | 0.23537581 |
| 80 | MARK1 | 0.23192925 |
| 81 | CDK4 | 0.22619470 |
| 82 | OXSR1 | 0.22242165 |
| 83 | MAPK14 | 0.21671437 |
| 84 | MARK2 | 0.21468124 |
| 85 | PRKCZ | 0.21243957 |
| 86 | CHEK1 | 0.20922951 |
| 87 | BRSK1 | 0.19018275 |
| 88 | CSNK1A1 | 0.18504064 |
| 89 | BLK | 0.18143193 |
| 90 | TIE1 | 0.17841021 |
| 91 | PRKACB | 0.17751212 |
| 92 | CAMK2A | 0.17301942 |
| 93 | PRKACA | 0.17185326 |
| 94 | DYRK1A | 0.16883643 |
| 95 | MAPK10 | 0.16855908 |
| 96 | AURKA | 0.16482465 |
| 97 | AKT1 | 0.15701355 |
| 98 | RIPK4 | 0.15406259 |
| 99 | PKN1 | 0.14950195 |
| 100 | MAP2K1 | 0.14602393 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.79203288 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.73336672 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.92090339 |
| 4 | Taste transduction_Homo sapiens_hsa04742 | 2.46771388 |
| 5 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 2.29781884 |
| 6 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.25961442 |
| 7 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.88145551 |
| 8 | Phototransduction_Homo sapiens_hsa04744 | 1.83335121 |
| 9 | Morphine addiction_Homo sapiens_hsa05032 | 1.75307200 |
| 10 | Nicotine addiction_Homo sapiens_hsa05033 | 1.73717874 |
| 11 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.68074831 |
| 12 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.63661448 |
| 13 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.50256592 |
| 14 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.48709818 |
| 15 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.46768868 |
| 16 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.46311440 |
| 17 | Circadian entrainment_Homo sapiens_hsa04713 | 1.46255826 |
| 18 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.44389733 |
| 19 | GABAergic synapse_Homo sapiens_hsa04727 | 1.42993361 |
| 20 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.34854987 |
| 21 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.33160552 |
| 22 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.32721827 |
| 23 | Salivary secretion_Homo sapiens_hsa04970 | 1.31074651 |
| 24 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.28489461 |
| 25 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.22060157 |
| 26 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.20329549 |
| 27 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.19580133 |
| 28 | RNA transport_Homo sapiens_hsa03013 | 1.18660061 |
| 29 | Cholinergic synapse_Homo sapiens_hsa04725 | 1.14542346 |
| 30 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.14171413 |
| 31 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.12273529 |
| 32 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.10511021 |
| 33 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.10149641 |
| 34 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.06470731 |
| 35 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.05242276 |
| 36 | Allograft rejection_Homo sapiens_hsa05330 | 1.04770475 |
| 37 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.04041816 |
| 38 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.02580079 |
| 39 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.95822807 |
| 40 | Renin secretion_Homo sapiens_hsa04924 | 0.94703078 |
| 41 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.94690067 |
| 42 | ABC transporters_Homo sapiens_hsa02010 | 0.94357080 |
| 43 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.93560434 |
| 44 | Endocytosis_Homo sapiens_hsa04144 | 0.92851360 |
| 45 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.89256461 |
| 46 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.88942180 |
| 47 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.88159475 |
| 48 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.88048670 |
| 49 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.82518619 |
| 50 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.82455793 |
| 51 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.81771236 |
| 52 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.80598413 |
| 53 | Insulin secretion_Homo sapiens_hsa04911 | 0.79914652 |
| 54 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.79388577 |
| 55 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.78975480 |
| 56 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.77573766 |
| 57 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.76907405 |
| 58 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.76612488 |
| 59 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.73488075 |
| 60 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.73340889 |
| 61 | Retinol metabolism_Homo sapiens_hsa00830 | 0.71564506 |
| 62 | Bile secretion_Homo sapiens_hsa04976 | 0.68501432 |
| 63 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.66192254 |
| 64 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.65471741 |
| 65 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.64821218 |
| 66 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.64147151 |
| 67 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.63746445 |
| 68 | Alcoholism_Homo sapiens_hsa05034 | 0.60560926 |
| 69 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.58466204 |
| 70 | Viral myocarditis_Homo sapiens_hsa05416 | 0.58005148 |
| 71 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.57457828 |
| 72 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.55919441 |
| 73 | Long-term depression_Homo sapiens_hsa04730 | 0.53809765 |
| 74 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.52462654 |
| 75 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.52219947 |
| 76 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.48668064 |
| 77 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.47192067 |
| 78 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.46150291 |
| 79 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.43933573 |
| 80 | Purine metabolism_Homo sapiens_hsa00230 | 0.43561692 |
| 81 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.43405456 |
| 82 | Cocaine addiction_Homo sapiens_hsa05030 | 0.42658365 |
| 83 | Tight junction_Homo sapiens_hsa04530 | 0.41988956 |
| 84 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.41025891 |
| 85 | Long-term potentiation_Homo sapiens_hsa04720 | 0.38195215 |
| 86 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.38139620 |
| 87 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.37179337 |
| 88 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.36484833 |
| 89 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.35863772 |
| 90 | Influenza A_Homo sapiens_hsa05164 | 0.35797635 |
| 91 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.35110776 |
| 92 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.30089667 |
| 93 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.29269290 |
| 94 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.27862770 |
| 95 | Huntingtons disease_Homo sapiens_hsa05016 | 0.27558280 |
| 96 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.26934289 |
| 97 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.24667712 |
| 98 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.23445811 |
| 99 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.23217497 |
| 100 | Basal transcription factors_Homo sapiens_hsa03022 | 0.22697807 |

