

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.65087393 |
| 2 | acrosome reaction (GO:0007340) | 9.57499225 |
| 3 | chromosome condensation (GO:0030261) | 7.47443394 |
| 4 | protein targeting to Golgi (GO:0000042) | 7.42669829 |
| 5 | centriole replication (GO:0007099) | 7.33150785 |
| 6 | plasma membrane fusion (GO:0045026) | 7.24957268 |
| 7 | establishment of protein localization to Golgi (GO:0072600) | 7.24449854 |
| 8 | DNA packaging (GO:0006323) | 7.13755759 |
| 9 | sperm capacitation (GO:0048240) | 6.96518001 |
| 10 | spermatid development (GO:0007286) | 6.86816934 |
| 11 | microtubule depolymerization (GO:0007019) | 6.83953097 |
| 12 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.80373717 |
| 13 | protein polyglutamylation (GO:0018095) | 6.41354057 |
| 14 | rRNA methylation (GO:0031167) | 6.35636709 |
| 15 | microtubule polymerization or depolymerization (GO:0031109) | 6.21671283 |
| 16 | single strand break repair (GO:0000012) | 6.18036151 |
| 17 | centriole assembly (GO:0098534) | 6.10130670 |
| 18 | sperm-egg recognition (GO:0035036) | 6.08187574 |
| 19 | response to pheromone (GO:0019236) | 5.98051246 |
| 20 | multicellular organism reproduction (GO:0032504) | 5.78553165 |
| 21 | spermatogenesis (GO:0007283) | 5.78097764 |
| 22 | male gamete generation (GO:0048232) | 5.76505132 |
| 23 | calcium ion-dependent exocytosis (GO:0017156) | 5.47578053 |
| 24 | protein localization to Golgi apparatus (GO:0034067) | 5.45316683 |
| 25 | seminiferous tubule development (GO:0072520) | 5.35448808 |
| 26 | spermatid nucleus differentiation (GO:0007289) | 5.33958410 |
| 27 | binding of sperm to zona pellucida (GO:0007339) | 5.32044100 |
| 28 | gamete generation (GO:0007276) | 5.29233523 |
| 29 | rRNA modification (GO:0000154) | 5.24795684 |
| 30 | reproduction (GO:0000003) | 5.23402879 |
| 31 | axonemal dynein complex assembly (GO:0070286) | 5.20655290 |
| 32 | piRNA metabolic process (GO:0034587) | 5.13772856 |
| 33 | regulation of centriole replication (GO:0046599) | 5.06201262 |
| 34 | cell-cell recognition (GO:0009988) | 5.03226746 |
| 35 | histone H3-K9 demethylation (GO:0033169) | 5.01343726 |
| 36 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 4.96656091 |
| 37 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.83236379 |
| 38 | RNA destabilization (GO:0050779) | 4.81714371 |
| 39 | regulation of cilium movement (GO:0003352) | 4.74681690 |
| 40 | regulation of meiosis I (GO:0060631) | 4.63595736 |
| 41 | positive regulation of Rab GTPase activity (GO:0032851) | 4.63169694 |
| 42 | regulation of Rab GTPase activity (GO:0032313) | 4.63169694 |
| 43 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.57700444 |
| 44 | male meiosis I (GO:0007141) | 4.56555924 |
| 45 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.39499105 |
| 46 | single fertilization (GO:0007338) | 4.38131279 |
| 47 | DNA methylation involved in gamete generation (GO:0043046) | 4.27481166 |
| 48 | microtubule nucleation (GO:0007020) | 4.26289372 |
| 49 | male meiosis (GO:0007140) | 4.25841566 |
| 50 | microtubule severing (GO:0051013) | 4.24826497 |
| 51 | sexual reproduction (GO:0019953) | 4.24514812 |
| 52 | fertilization (GO:0009566) | 4.23700967 |
| 53 | multicellular organismal reproductive process (GO:0048609) | 4.18699664 |
| 54 | negative regulation of inclusion body assembly (GO:0090084) | 4.09958817 |
| 55 | mast cell activation involved in immune response (GO:0002279) | 4.05572898 |
| 56 | mast cell degranulation (GO:0043303) | 4.05572898 |
| 57 | germ cell development (GO:0007281) | 4.02768838 |
| 58 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.77812630 |
| 59 | motile cilium assembly (GO:0044458) | 3.75348915 |
| 60 | meiotic nuclear division (GO:0007126) | 3.72752793 |
| 61 | meiosis I (GO:0007127) | 3.70520286 |
| 62 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.69297779 |
| 63 | response to acidic pH (GO:0010447) | 3.67249177 |
| 64 | epithelial cilium movement (GO:0003351) | 3.62727262 |
| 65 | cell wall macromolecule metabolic process (GO:0044036) | 3.61083013 |
| 66 | cell wall macromolecule catabolic process (GO:0016998) | 3.55110019 |
| 67 | glomerular visceral epithelial cell development (GO:0072015) | 3.43013541 |
| 68 | cellular response to pH (GO:0071467) | 3.39312263 |
| 69 | nucleus organization (GO:0006997) | 3.36983754 |
| 70 | musculoskeletal movement (GO:0050881) | 3.35114402 |
| 71 | multicellular organismal movement (GO:0050879) | 3.35114402 |
| 72 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.33691157 |
| 73 | glycerol ether metabolic process (GO:0006662) | 3.27909002 |
| 74 | synaptonemal complex assembly (GO:0007130) | 3.25683784 |
| 75 | chromosome organization involved in meiosis (GO:0070192) | 3.24709559 |
| 76 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.21864265 |
| 77 | glomerular epithelial cell development (GO:0072310) | 3.19224261 |
| 78 | synapsis (GO:0007129) | 3.15802875 |
| 79 | polyamine biosynthetic process (GO:0006596) | 3.14113355 |
| 80 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.11434552 |
| 81 | axoneme assembly (GO:0035082) | 3.10358773 |
| 82 | regulation of cytokine production involved in inflammatory response (GO:1900015) | 3.09234848 |
| 83 | regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003339 | 3.09162630 |
| 84 | cilium movement (GO:0003341) | 3.07548320 |
| 85 | homeostasis of number of cells within a tissue (GO:0048873) | 3.07226974 |
| 86 | leukocyte degranulation (GO:0043299) | 3.06893313 |
| 87 | synaptonemal complex organization (GO:0070193) | 3.05663778 |
| 88 | cellular ketone body metabolic process (GO:0046950) | 3.02143642 |
| 89 | ketone body metabolic process (GO:1902224) | 3.00712939 |
| 90 | centrosome duplication (GO:0051298) | 3.00372133 |
| 91 | ether metabolic process (GO:0018904) | 2.99918695 |
| 92 | Golgi to endosome transport (GO:0006895) | 2.99612022 |
| 93 | intra-Golgi vesicle-mediated transport (GO:0006891) | 2.98535832 |
| 94 | organic cation transport (GO:0015695) | 2.97547998 |
| 95 | growth hormone receptor signaling pathway (GO:0060396) | 2.97249977 |
| 96 | nuclear pore complex assembly (GO:0051292) | 2.95401300 |
| 97 | regulation of interleukin-12 biosynthetic process (GO:0045075) | 2.86594915 |
| 98 | regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645) | 2.85969174 |
| 99 | regulation of microtubule-based movement (GO:0060632) | 2.85130563 |
| 100 | sperm motility (GO:0030317) | 10.3874255 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.42123830 |
| 2 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 4.24662788 |
| 3 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.48712974 |
| 4 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.92422011 |
| 5 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.31169315 |
| 6 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.30843533 |
| 7 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.17383864 |
| 8 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.11070590 |
| 9 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.11070590 |
| 10 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 2.03532819 |
| 11 | FUS_26573619_Chip-Seq_HEK293_Human | 2.00206192 |
| 12 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.95072457 |
| 13 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.95072457 |
| 14 | IRF1_21803131_ChIP-Seq_MONOCYTES_Human | 1.87722108 |
| 15 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.87700653 |
| 16 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.85921359 |
| 17 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.84845216 |
| 18 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.76511112 |
| 19 | ERA_21632823_ChIP-Seq_H3396_Human | 1.73007835 |
| 20 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.72880734 |
| 21 | VDR_22108803_ChIP-Seq_LS180_Human | 1.72636636 |
| 22 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.71510039 |
| 23 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.68565902 |
| 24 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.64340528 |
| 25 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.63839320 |
| 26 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.61725964 |
| 27 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.57597605 |
| 28 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.57227018 |
| 29 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.56662823 |
| 30 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 1.56315783 |
| 31 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.54874377 |
| 32 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.53797548 |
| 33 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.52693529 |
| 34 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.52679417 |
| 35 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.51464862 |
| 36 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.50957497 |
| 37 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.50876052 |
| 38 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.49467560 |
| 39 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.49205932 |
| 40 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.49012611 |
| 41 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.48043747 |
| 42 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.47145899 |
| 43 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.46491466 |
| 44 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.45768483 |
| 45 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.44401926 |
| 46 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.44217237 |
| 47 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.43748615 |
| 48 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.43402243 |
| 49 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.41511916 |
| 50 | NFYB_21822215_ChIP-Seq_K562_Human | 1.41346201 |
| 51 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.39626453 |
| 52 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.39445107 |
| 53 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.38233552 |
| 54 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.37717987 |
| 55 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.36757446 |
| 56 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.35612919 |
| 57 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.34889622 |
| 58 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.34809551 |
| 59 | MYB_26560356_Chip-Seq_TH2_Human | 1.34161446 |
| 60 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.31642643 |
| 61 | IRF8_21731497_ChIP-ChIP_J774_Mouse | 1.31582873 |
| 62 | SALL4_22934838_ChIP-ChIP_CD34+_Human | 1.30776983 |
| 63 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.30395678 |
| 64 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.30308215 |
| 65 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.28515815 |
| 66 | GATA3_27048872_Chip-Seq_THYMUS_Human | 1.26829051 |
| 67 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.26305215 |
| 68 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.26193327 |
| 69 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.26193327 |
| 70 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.25290287 |
| 71 | P300_19829295_ChIP-Seq_ESCs_Human | 1.24961577 |
| 72 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.24891322 |
| 73 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.23135226 |
| 74 | P300_27268052_Chip-Seq_Bcells_Human | 1.21574685 |
| 75 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.21183756 |
| 76 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.19685913 |
| 77 | TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.18632870 |
| 78 | GATA3_26560356_Chip-Seq_TH2_Human | 1.17597722 |
| 79 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.16748775 |
| 80 | GATA3_26560356_Chip-Seq_TH1_Human | 1.15817000 |
| 81 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.15753054 |
| 82 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.15632303 |
| 83 | GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.14398546 |
| 84 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.13140096 |
| 85 | AR_25329375_ChIP-Seq_VCAP_Human | 1.12992518 |
| 86 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.12656668 |
| 87 | STAT6_20620947_ChIP-Seq_CD4_POS_T_Human | 1.12060466 |
| 88 | TBL1_22424771_ChIP-Seq_293T_Human | 1.11400051 |
| 89 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.11198251 |
| 90 | P68_20966046_ChIP-Seq_HELA_Human | 1.10863003 |
| 91 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.07789071 |
| 92 | NCOR_22424771_ChIP-Seq_293T_Human | 1.07583123 |
| 93 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.07222201 |
| 94 | NFYA_21822215_ChIP-Seq_K562_Human | 1.06980121 |
| 95 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.06411269 |
| 96 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.06391098 |
| 97 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.05438407 |
| 98 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.04830103 |
| 99 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.04710015 |
| 100 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.04523061 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 9.18717935 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 4.48559362 |
| 3 | MP0003878_abnormal_ear_physiology | 4.48559362 |
| 4 | MP0003698_abnormal_male_reproductive | 3.71431424 |
| 5 | MP0001929_abnormal_gametogenesis | 3.38332671 |
| 6 | MP0005670_abnormal_white_adipose | 3.19433170 |
| 7 | MP0002138_abnormal_hepatobiliary_system | 2.72628805 |
| 8 | MP0001348_abnormal_lacrimal_gland | 2.51890312 |
| 9 | MP0003646_muscle_fatigue | 2.39944720 |
| 10 | MP0005671_abnormal_response_to | 2.35890066 |
| 11 | MP0000372_irregular_coat_pigmentation | 2.32008576 |
| 12 | MP0009785_altered_susceptibility_to | 2.18725737 |
| 13 | MP0001835_abnormal_antigen_presentation | 2.05131233 |
| 14 | MP0000015_abnormal_ear_pigmentation | 1.97292350 |
| 15 | MP0005310_abnormal_salivary_gland | 1.93687208 |
| 16 | MP0002161_abnormal_fertility/fecundity | 1.88895041 |
| 17 | MP0000569_abnormal_digit_pigmentation | 1.88631342 |
| 18 | MP0002210_abnormal_sex_determination | 1.84315835 |
| 19 | MP0003718_maternal_effect | 1.77680006 |
| 20 | MP0008877_abnormal_DNA_methylation | 1.76661071 |
| 21 | MP0009333_abnormal_splenocyte_physiolog | 1.70954454 |
| 22 | MP0000678_abnormal_parathyroid_gland | 1.64307840 |
| 23 | MP0001986_abnormal_taste_sensitivity | 1.61731780 |
| 24 | MP0001984_abnormal_olfaction | 1.61635630 |
| 25 | MP0003806_abnormal_nucleotide_metabolis | 1.56968828 |
| 26 | MP0005075_abnormal_melanosome_morpholog | 1.53676368 |
| 27 | MP0005451_abnormal_body_composition | 1.51980786 |
| 28 | MP0002822_catalepsy | 1.47942206 |
| 29 | MP0002132_abnormal_respiratory_system | 1.43959308 |
| 30 | MP0005000_abnormal_immune_tolerance | 1.39603076 |
| 31 | MP0005408_hypopigmentation | 1.39383050 |
| 32 | MP0001145_abnormal_male_reproductive | 1.36302725 |
| 33 | MP0001849_ear_inflammation | 1.35299096 |
| 34 | MP0001790_abnormal_immune_system | 1.33801132 |
| 35 | MP0005387_immune_system_phenotype | 1.33801132 |
| 36 | MP0000653_abnormal_sex_gland | 1.31452676 |
| 37 | MP0005379_endocrine/exocrine_gland_phen | 1.29919034 |
| 38 | MP0004510_myositis | 1.24141289 |
| 39 | MP0001485_abnormal_pinna_reflex | 1.16305710 |
| 40 | MP0003436_decreased_susceptibility_to | 1.12018853 |
| 41 | MP0001800_abnormal_humoral_immune | 1.10559103 |
| 42 | MP0003879_abnormal_hair_cell | 1.10014673 |
| 43 | MP0008961_abnormal_basal_metabolism | 1.07649705 |
| 44 | MP0002735_abnormal_chemical_nociception | 1.07644401 |
| 45 | MP0002723_abnormal_immune_serum | 1.07255163 |
| 46 | MP0004742_abnormal_vestibular_system | 1.05850246 |
| 47 | MP0005167_abnormal_blood-brain_barrier | 1.04884558 |
| 48 | MP0001873_stomach_inflammation | 1.03594077 |
| 49 | MP0004147_increased_porphyrin_level | 1.00862206 |
| 50 | MP0002282_abnormal_trachea_morphology | 1.00249471 |
| 51 | MP0000371_diluted_coat_color | 1.00223051 |
| 52 | MP0004381_abnormal_hair_follicle | 0.99874639 |
| 53 | MP0005174_abnormal_tail_pigmentation | 0.96006340 |
| 54 | MP0003136_yellow_coat_color | 0.93463552 |
| 55 | MP0001765_abnormal_ion_homeostasis | 0.91790768 |
| 56 | MP0010155_abnormal_intestine_physiology | 0.91698034 |
| 57 | MP0005464_abnormal_platelet_physiology | 0.90800893 |
| 58 | MP0009765_abnormal_xenobiotic_induced | 0.89942403 |
| 59 | MP0001968_abnormal_touch/_nociception | 0.89365098 |
| 60 | MP0005025_abnormal_response_to | 0.85265836 |
| 61 | MP0002653_abnormal_ependyma_morphology | 0.84210289 |
| 62 | MP0001486_abnormal_startle_reflex | 0.80918893 |
| 63 | MP0001243_abnormal_dermal_layer | 0.80304481 |
| 64 | MP0002452_abnormal_antigen_presenting | 0.80296181 |
| 65 | MP0009764_decreased_sensitivity_to | 0.79628184 |
| 66 | MP0002095_abnormal_skin_pigmentation | 0.79614142 |
| 67 | MP0000685_abnormal_immune_system | 0.79301794 |
| 68 | MP0003448_altered_tumor_morphology | 0.78935522 |
| 69 | MP0002166_altered_tumor_susceptibility | 0.78727997 |
| 70 | MP0005636_abnormal_mineral_homeostasis | 0.75511621 |
| 71 | MP0003011_delayed_dark_adaptation | 0.75313209 |
| 72 | MP0005551_abnormal_eye_electrophysiolog | 0.75165681 |
| 73 | MP0005253_abnormal_eye_physiology | 0.74954769 |
| 74 | MP0002876_abnormal_thyroid_physiology | 0.74923372 |
| 75 | MP0009115_abnormal_fat_cell | 0.74518235 |
| 76 | MP0003724_increased_susceptibility_to | 0.74167088 |
| 77 | MP0004947_skin_inflammation | 0.72756625 |
| 78 | MP0002420_abnormal_adaptive_immunity | 0.72750064 |
| 79 | MP0001666_abnormal_nutrient_absorption | 0.72067629 |
| 80 | MP0001819_abnormal_immune_cell | 0.71493880 |
| 81 | MP0000703_abnormal_thymus_morphology | 0.71020453 |
| 82 | MP0002405_respiratory_system_inflammati | 0.70085855 |
| 83 | MP0002419_abnormal_innate_immunity | 0.69225453 |
| 84 | MP0005535_abnormal_body_temperature | 0.67726153 |
| 85 | MP0010307_abnormal_tumor_latency | 0.66481133 |
| 86 | MP0001963_abnormal_hearing_physiology | 0.64910292 |
| 87 | MP0002229_neurodegeneration | 0.64355676 |
| 88 | MP0002398_abnormal_bone_marrow | 0.64162743 |
| 89 | MP0002933_joint_inflammation | 0.63912828 |
| 90 | MP0004036_abnormal_muscle_relaxation | 0.63060764 |
| 91 | MP0002722_abnormal_immune_system | 0.62597335 |
| 92 | MP0008569_lethality_at_weaning | 0.61231781 |
| 93 | MP0008775_abnormal_heart_ventricle | 0.60943761 |
| 94 | MP0008995_early_reproductive_senescence | 0.60638916 |
| 95 | MP0004084_abnormal_cardiac_muscle | 0.59167396 |
| 96 | MP0000230_abnormal_systemic_arterial | 0.57431571 |
| 97 | MP0005666_abnormal_adipose_tissue | 0.56452873 |
| 98 | MP0000249_abnormal_blood_vessel | 0.54298312 |
| 99 | MP0001853_heart_inflammation | 0.53942636 |
| 100 | MP0005171_absent_coat_pigmentation | 0.53858014 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 5.49803177 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.35729160 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.35729160 |
| 4 | Tubulointerstitial nephritis (HP:0001970) | 5.25952670 |
| 5 | Chronic hepatic failure (HP:0100626) | 4.67898968 |
| 6 | Nasal polyposis (HP:0100582) | 4.64264134 |
| 7 | Asymmetric septal hypertrophy (HP:0001670) | 4.19869482 |
| 8 | Hyperkalemia (HP:0002153) | 3.91258761 |
| 9 | Abnormal ciliary motility (HP:0012262) | 3.91124223 |
| 10 | Enlarged epiphyses (HP:0010580) | 3.77489111 |
| 11 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.77143434 |
| 12 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.75037129 |
| 13 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.75037129 |
| 14 | Male infertility (HP:0003251) | 3.74023889 |
| 15 | Attenuation of retinal blood vessels (HP:0007843) | 3.72118371 |
| 16 | Abnormality of the nasal mucosa (HP:0000433) | 3.67885688 |
| 17 | Menstrual irregularities (HP:0000858) | 3.65709147 |
| 18 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.42553610 |
| 19 | Abnormality of macular pigmentation (HP:0008002) | 3.38495728 |
| 20 | Potter facies (HP:0002009) | 3.37090051 |
| 21 | Facial shape deformation (HP:0011334) | 3.37090051 |
| 22 | Amelogenesis imperfecta (HP:0000705) | 3.31902562 |
| 23 | Cone-rod dystrophy (HP:0000548) | 3.30831772 |
| 24 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.30125413 |
| 25 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.29751712 |
| 26 | Elevated erythrocyte sedimentation rate (HP:0003565) | 3.27848861 |
| 27 | Infertility (HP:0000789) | 3.26539853 |
| 28 | Resting tremor (HP:0002322) | 3.26515868 |
| 29 | Impulsivity (HP:0100710) | 3.19956817 |
| 30 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.09806894 |
| 31 | Abnormality of the costochondral junction (HP:0000919) | 3.05062823 |
| 32 | Abnormal spermatogenesis (HP:0008669) | 3.02768076 |
| 33 | Abnormality of dental color (HP:0011073) | 3.01620916 |
| 34 | Generalized aminoaciduria (HP:0002909) | 2.94932407 |
| 35 | Hypoplasia of the thymus (HP:0000778) | 2.93141625 |
| 36 | Recurrent cutaneous fungal infections (HP:0011370) | 2.82945825 |
| 37 | Chronic mucocutaneous candidiasis (HP:0002728) | 2.82945825 |
| 38 | Truncal obesity (HP:0001956) | 2.81050959 |
| 39 | Portal hypertension (HP:0001409) | 2.79483220 |
| 40 | Progressive sensorineural hearing impairment (HP:0000408) | 2.71250659 |
| 41 | Horizontal nystagmus (HP:0000666) | 2.70951097 |
| 42 | Bell-shaped thorax (HP:0001591) | 2.64837078 |
| 43 | Hypoalphalipoproteinemia (HP:0003233) | 2.54748889 |
| 44 | Azoospermia (HP:0000027) | 2.54323318 |
| 45 | Bronchiectasis (HP:0002110) | 2.53186047 |
| 46 | Abnormality of the hepatic vasculature (HP:0006707) | 2.53024508 |
| 47 | Tubulointerstitial abnormality (HP:0001969) | 2.37785479 |
| 48 | Nephronophthisis (HP:0000090) | 2.35851911 |
| 49 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.29990542 |
| 50 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 2.29079111 |
| 51 | Hypoplasia of the fovea (HP:0007750) | 2.29079111 |
| 52 | Volvulus (HP:0002580) | 2.25454427 |
| 53 | Stage 5 chronic kidney disease (HP:0003774) | 2.24245248 |
| 54 | Abnormality of placental membranes (HP:0011409) | 2.23923849 |
| 55 | Amniotic constriction ring (HP:0009775) | 2.23923849 |
| 56 | Rhinitis (HP:0012384) | 2.20739668 |
| 57 | Abnormality of transition element cation homeostasis (HP:0011030) | 2.20214096 |
| 58 | Postural instability (HP:0002172) | 2.19970932 |
| 59 | Decreased central vision (HP:0007663) | 2.19961787 |
| 60 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.18636000 |
| 61 | Abnormality of potassium homeostasis (HP:0011042) | 2.18152218 |
| 62 | Abnormality of the renal medulla (HP:0100957) | 2.15886250 |
| 63 | Abnormality of the fingertips (HP:0001211) | 2.15762064 |
| 64 | Renovascular hypertension (HP:0100817) | 2.14799649 |
| 65 | Aplasia/Hypoplasia of the macula (HP:0008059) | 2.09121828 |
| 66 | Progressive cerebellar ataxia (HP:0002073) | 2.08971686 |
| 67 | Stomatitis (HP:0010280) | 2.08666573 |
| 68 | Abnormality of T cells (HP:0002843) | 2.08346229 |
| 69 | Osteomalacia (HP:0002749) | 2.06942198 |
| 70 | Joint swelling (HP:0001386) | 2.06788711 |
| 71 | Abnormal urine output (HP:0012590) | 2.06591108 |
| 72 | Congenital sensorineural hearing impairment (HP:0008527) | 2.05366858 |
| 73 | T lymphocytopenia (HP:0005403) | 2.03420434 |
| 74 | Widely patent fontanelles and sutures (HP:0004492) | 1.99661797 |
| 75 | Pulmonary fibrosis (HP:0002206) | 1.97618497 |
| 76 | Hypoalbuminemia (HP:0003073) | 1.96116526 |
| 77 | Abnormal albumin level (HP:0012116) | 1.96116526 |
| 78 | Abnormality of T cell number (HP:0011839) | 1.94868553 |
| 79 | Recurrent pneumonia (HP:0006532) | 1.91753660 |
| 80 | Aplasia/Hypoplasia affecting the retina (HP:0008061) | 1.91439963 |
| 81 | Abnormality of the fovea (HP:0000493) | 1.90805804 |
| 82 | IgG deficiency (HP:0004315) | 1.89384307 |
| 83 | Gastrointestinal infarctions (HP:0005244) | 1.88778745 |
| 84 | Abnormality of the renal cortex (HP:0011035) | 1.88717175 |
| 85 | Abnormality of renal excretion (HP:0011036) | 1.87778203 |
| 86 | Polydipsia (HP:0001959) | 1.87338424 |
| 87 | Abnormal drinking behavior (HP:0030082) | 1.87338424 |
| 88 | Abnormality of chloride homeostasis (HP:0011422) | 1.87258500 |
| 89 | Abnormality of T cell physiology (HP:0011840) | 1.84804471 |
| 90 | Chronic bronchitis (HP:0004469) | 1.84303659 |
| 91 | Cheilitis (HP:0100825) | 1.82460904 |
| 92 | Optic neuritis (HP:0100653) | 1.81993533 |
| 93 | Retrobulbar optic neuritis (HP:0100654) | 1.81993533 |
| 94 | Hemoptysis (HP:0002105) | 1.80227476 |
| 95 | Neoplasm of the heart (HP:0100544) | 1.79878443 |
| 96 | Supernumerary ribs (HP:0005815) | 1.77937178 |
| 97 | IgA deficiency (HP:0002720) | 1.76889798 |
| 98 | Hyperuricemia (HP:0002149) | 1.76568373 |
| 99 | Increased purine levels (HP:0004368) | 1.76568373 |
| 100 | Atonic seizures (HP:0010819) | 1.75383937 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.49410966 |
| 2 | PNCK | 5.33593333 |
| 3 | PLK2 | 3.68843721 |
| 4 | INSRR | 3.65965543 |
| 5 | TESK1 | 3.27416422 |
| 6 | BRD4 | 3.12861156 |
| 7 | CAMK1G | 2.95449574 |
| 8 | STK38L | 2.71893920 |
| 9 | DDR2 | 2.35218104 |
| 10 | PTK2B | 2.22417843 |
| 11 | PIK3CG | 2.17186418 |
| 12 | STK38 | 2.14788686 |
| 13 | NEK1 | 2.14518364 |
| 14 | MET | 1.96798122 |
| 15 | MAP4K2 | 1.87941976 |
| 16 | MST1R | 1.79646902 |
| 17 | TXK | 1.53094816 |
| 18 | ZAK | 1.52449165 |
| 19 | NUAK1 | 1.37607068 |
| 20 | TYRO3 | 1.34920909 |
| 21 | PDK1 | 1.24036427 |
| 22 | TLK1 | 1.23281486 |
| 23 | BMX | 1.22425154 |
| 24 | PRKD3 | 1.21561079 |
| 25 | CSF1R | 1.11390942 |
| 26 | ITK | 1.10646915 |
| 27 | MAP4K1 | 1.09026341 |
| 28 | NEK6 | 1.07099747 |
| 29 | FGR | 0.99798365 |
| 30 | PDPK1 | 0.98045126 |
| 31 | MAPK15 | 0.94811794 |
| 32 | PIK3CA | 0.93979349 |
| 33 | WNK1 | 0.93675477 |
| 34 | SIK2 | 0.93600741 |
| 35 | CDK7 | 0.90009757 |
| 36 | CDK12 | 0.87729879 |
| 37 | MST4 | 0.86472413 |
| 38 | ACVR1B | 0.80026706 |
| 39 | TEC | 0.76063191 |
| 40 | DYRK1B | 0.74261301 |
| 41 | NEK2 | 0.65553469 |
| 42 | IKBKB | 0.65155518 |
| 43 | MARK3 | 0.63753673 |
| 44 | CAMK1 | 0.60615737 |
| 45 | ADRBK2 | 0.60476315 |
| 46 | STK3 | 0.60354595 |
| 47 | KSR2 | 0.58265620 |
| 48 | SYK | 0.58146083 |
| 49 | GRK6 | 0.55818046 |
| 50 | PINK1 | 0.55770744 |
| 51 | JAK3 | 0.55479645 |
| 52 | TBK1 | 0.53495247 |
| 53 | MAP2K2 | 0.53057634 |
| 54 | TRIM28 | 0.51769409 |
| 55 | WEE1 | 0.51235115 |
| 56 | RIPK4 | 0.48615973 |
| 57 | PRKG1 | 0.47919813 |
| 58 | PRKCQ | 0.47368248 |
| 59 | CAMK1D | 0.46594404 |
| 60 | TIE1 | 0.46126402 |
| 61 | ROCK1 | 0.45758101 |
| 62 | TESK2 | 0.43255544 |
| 63 | BLK | 0.42749898 |
| 64 | MAP3K2 | 0.41429413 |
| 65 | OXSR1 | 0.39074347 |
| 66 | MAPK11 | 0.39038556 |
| 67 | MAPK1 | 0.38060964 |
| 68 | RPS6KA1 | 0.37442907 |
| 69 | RET | 0.37247151 |
| 70 | STK24 | 0.36803925 |
| 71 | VRK1 | 0.36042877 |
| 72 | CHEK1 | 0.35774767 |
| 73 | PRKCH | 0.35281270 |
| 74 | LATS1 | 0.34230975 |
| 75 | PRKAA2 | 0.32730881 |
| 76 | TAF1 | 0.32610954 |
| 77 | CDK1 | 0.32285495 |
| 78 | BTK | 0.32264419 |
| 79 | CHUK | 0.31088802 |
| 80 | IKBKE | 0.30587442 |
| 81 | PAK1 | 0.29208843 |
| 82 | MAP2K6 | 0.27284260 |
| 83 | EIF2AK1 | 0.26871866 |
| 84 | CDK2 | 0.24693839 |
| 85 | EGFR | 0.23743354 |
| 86 | CSK | 0.23535538 |
| 87 | PKN1 | 0.22406194 |
| 88 | MAP3K8 | 0.21719937 |
| 89 | PRKAA1 | 0.21539132 |
| 90 | CAMK2A | 0.20877451 |
| 91 | PRKCB | 0.20287978 |
| 92 | TNK2 | 0.19866428 |
| 93 | MAP3K14 | 0.19689512 |
| 94 | MAP3K11 | 0.18327164 |
| 95 | ATR | 0.18139333 |
| 96 | CDK3 | 0.18054882 |
| 97 | IGF1R | 0.16917045 |
| 98 | LYN | 0.16794207 |
| 99 | MAP3K9 | 0.16711478 |
| 100 | GSK3B | 0.16117384 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Graft-versus-host disease_Homo sapiens_hsa05332 | 4.38981235 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.32736061 |
| 3 | Allograft rejection_Homo sapiens_hsa05330 | 3.89608755 |
| 4 | Antigen processing and presentation_Homo sapiens_hsa04612 | 3.77751339 |
| 5 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.68974267 |
| 6 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 3.26411482 |
| 7 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 3.07612635 |
| 8 | Olfactory transduction_Homo sapiens_hsa04740 | 2.97902163 |
| 9 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 2.62471615 |
| 10 | Primary immunodeficiency_Homo sapiens_hsa05340 | 2.37777178 |
| 11 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.27737907 |
| 12 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 2.23255692 |
| 13 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.98662739 |
| 14 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 1.83182628 |
| 15 | RNA transport_Homo sapiens_hsa03013 | 1.77269682 |
| 16 | Viral myocarditis_Homo sapiens_hsa05416 | 1.44499123 |
| 17 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 1.39807347 |
| 18 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 1.39422439 |
| 19 | Proteasome_Homo sapiens_hsa03050 | 1.38071811 |
| 20 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 1.37459481 |
| 21 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.35513595 |
| 22 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 1.35226688 |
| 23 | Taste transduction_Homo sapiens_hsa04742 | 1.27588979 |
| 24 | Measles_Homo sapiens_hsa05162 | 1.18917999 |
| 25 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.18640603 |
| 26 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.18428479 |
| 27 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.18007626 |
| 28 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.17862501 |
| 29 | Viral carcinogenesis_Homo sapiens_hsa05203 | 1.16462102 |
| 30 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.14236435 |
| 31 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.12570534 |
| 32 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 1.10823925 |
| 33 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.01805432 |
| 34 | Influenza A_Homo sapiens_hsa05164 | 1.00720209 |
| 35 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.99009729 |
| 36 | Phototransduction_Homo sapiens_hsa04744 | 0.97875256 |
| 37 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.92911761 |
| 38 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.92890373 |
| 39 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.90872176 |
| 40 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.90572705 |
| 41 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.82709609 |
| 42 | Alcoholism_Homo sapiens_hsa05034 | 0.82636903 |
| 43 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.79241411 |
| 44 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.75561625 |
| 45 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.71645165 |
| 46 | Endocytosis_Homo sapiens_hsa04144 | 0.70084351 |
| 47 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.69288993 |
| 48 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.69001170 |
| 49 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.67780257 |
| 50 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.67265061 |
| 51 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.66881516 |
| 52 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 0.66546388 |
| 53 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.62529089 |
| 54 | Purine metabolism_Homo sapiens_hsa00230 | 0.61239890 |
| 55 | ABC transporters_Homo sapiens_hsa02010 | 0.57331035 |
| 56 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.57284352 |
| 57 | Asthma_Homo sapiens_hsa05310 | 0.54801963 |
| 58 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.54209295 |
| 59 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.54134646 |
| 60 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.53400732 |
| 61 | Basal transcription factors_Homo sapiens_hsa03022 | 0.52283976 |
| 62 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.50433388 |
| 63 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.49463049 |
| 64 | Legionellosis_Homo sapiens_hsa05134 | 0.47252541 |
| 65 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.46700160 |
| 66 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.45925202 |
| 67 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.45481440 |
| 68 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.44846798 |
| 69 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.43677044 |
| 70 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.43004944 |
| 71 | Morphine addiction_Homo sapiens_hsa05032 | 0.42272038 |
| 72 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.41695637 |
| 73 | Circadian rhythm_Homo sapiens_hsa04710 | 0.40075799 |
| 74 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.39572320 |
| 75 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.39272376 |
| 76 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.37140716 |
| 77 | Retinol metabolism_Homo sapiens_hsa00830 | 0.36645395 |
| 78 | African trypanosomiasis_Homo sapiens_hsa05143 | 0.36329841 |
| 79 | Malaria_Homo sapiens_hsa05144 | 0.35609160 |
| 80 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.34030550 |
| 81 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.33914695 |
| 82 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.32634648 |
| 83 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.32594219 |
| 84 | Leishmaniasis_Homo sapiens_hsa05140 | 0.32289620 |
| 85 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.31380231 |
| 86 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.29987636 |
| 87 | Salivary secretion_Homo sapiens_hsa04970 | 0.28583697 |
| 88 | Osteoclast differentiation_Homo sapiens_hsa04380 | 0.28333413 |
| 89 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.27848922 |
| 90 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.27819743 |
| 91 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.25628090 |
| 92 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.22936047 |
| 93 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.22798427 |
| 94 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.22619320 |
| 95 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.20546895 |
| 96 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.19768891 |
| 97 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 0.19639239 |
| 98 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.19418516 |
| 99 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.19364655 |
| 100 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.18487290 |

