

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.67876528 |
| 2 | positive regulation of action potential (GO:0045760) | 7.80589987 |
| 3 | plasma membrane fusion (GO:0045026) | 7.45096245 |
| 4 | sperm motility (GO:0030317) | 7.24469570 |
| 5 | acrosome reaction (GO:0007340) | 7.02788863 |
| 6 | regulation of acrosome reaction (GO:0060046) | 6.71720827 |
| 7 | multicellular organism reproduction (GO:0032504) | 6.19642704 |
| 8 | motile cilium assembly (GO:0044458) | 5.77298051 |
| 9 | sperm-egg recognition (GO:0035036) | 5.70539758 |
| 10 | positive regulation of sodium ion transmembrane transporter activity (GO:2000651) | 5.61312231 |
| 11 | protein polyglutamylation (GO:0018095) | 5.30285324 |
| 12 | binding of sperm to zona pellucida (GO:0007339) | 5.24453908 |
| 13 | spermatid development (GO:0007286) | 5.18338425 |
| 14 | behavioral response to nicotine (GO:0035095) | 5.15868266 |
| 15 | cell-cell recognition (GO:0009988) | 5.11980045 |
| 16 | primary amino compound metabolic process (GO:1901160) | 5.05423780 |
| 17 | protein targeting to Golgi (GO:0000042) | 4.97799845 |
| 18 | reproduction (GO:0000003) | 4.97654179 |
| 19 | establishment of protein localization to Golgi (GO:0072600) | 4.93118943 |
| 20 | piRNA metabolic process (GO:0034587) | 4.91156147 |
| 21 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 4.90961201 |
| 22 | serotonin metabolic process (GO:0042428) | 4.85951023 |
| 23 | regulation of action potential (GO:0098900) | 4.76380221 |
| 24 | response to pheromone (GO:0019236) | 4.64035926 |
| 25 | DNA methylation involved in gamete generation (GO:0043046) | 4.51632976 |
| 26 | axonemal dynein complex assembly (GO:0070286) | 4.51338656 |
| 27 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.50776510 |
| 28 | neuronal action potential (GO:0019228) | 4.45721950 |
| 29 | glomerular visceral epithelial cell development (GO:0072015) | 4.42784586 |
| 30 | epithelial cilium movement (GO:0003351) | 4.32482561 |
| 31 | fucose catabolic process (GO:0019317) | 4.26441122 |
| 32 | L-fucose metabolic process (GO:0042354) | 4.26441122 |
| 33 | L-fucose catabolic process (GO:0042355) | 4.26441122 |
| 34 | positive regulation of sodium ion transmembrane transport (GO:1902307) | 4.18423016 |
| 35 | calcium ion-dependent exocytosis (GO:0017156) | 4.17962009 |
| 36 | cellular ketone body metabolic process (GO:0046950) | 4.06458650 |
| 37 | regulation of cell communication by electrical coupling (GO:0010649) | 4.01123687 |
| 38 | single fertilization (GO:0007338) | 4.00133248 |
| 39 | seminiferous tubule development (GO:0072520) | 3.97293151 |
| 40 | glomerular epithelial cell development (GO:0072310) | 3.95652719 |
| 41 | regulation of protein targeting to membrane (GO:0090313) | 3.88868181 |
| 42 | protein localization to Golgi apparatus (GO:0034067) | 3.85490320 |
| 43 | male meiosis (GO:0007140) | 3.83528798 |
| 44 | spermatogenesis (GO:0007283) | 3.81871611 |
| 45 | male gamete generation (GO:0048232) | 3.81280946 |
| 46 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.78769069 |
| 47 | sperm capacitation (GO:0048240) | 3.72570357 |
| 48 | negative regulation of sodium ion transport (GO:0010766) | 3.64722201 |
| 49 | indole-containing compound metabolic process (GO:0042430) | 3.62081065 |
| 50 | protein K48-linked deubiquitination (GO:0071108) | 3.60776593 |
| 51 | ketone body metabolic process (GO:1902224) | 3.55485710 |
| 52 | growth hormone secretion (GO:0030252) | 3.51548660 |
| 53 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.50543054 |
| 54 | gamete generation (GO:0007276) | 3.50210702 |
| 55 | indole-containing compound catabolic process (GO:0042436) | 3.44436814 |
| 56 | indolalkylamine catabolic process (GO:0046218) | 3.44436814 |
| 57 | tryptophan catabolic process (GO:0006569) | 3.44436814 |
| 58 | centriole replication (GO:0007099) | 3.42065775 |
| 59 | cilium movement (GO:0003341) | 3.37068659 |
| 60 | microtubule severing (GO:0051013) | 3.36748840 |
| 61 | positive regulation of protein targeting to membrane (GO:0090314) | 3.35908177 |
| 62 | microtubule depolymerization (GO:0007019) | 3.33853384 |
| 63 | regulation of Rab GTPase activity (GO:0032313) | 3.29015914 |
| 64 | positive regulation of Rab GTPase activity (GO:0032851) | 3.29015914 |
| 65 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 3.26135379 |
| 66 | regulation of cilium movement (GO:0003352) | 3.25629457 |
| 67 | fertilization (GO:0009566) | 3.25394566 |
| 68 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.24178087 |
| 69 | microtubule polymerization or depolymerization (GO:0031109) | 3.19880499 |
| 70 | spermatid nucleus differentiation (GO:0007289) | 3.18771930 |
| 71 | NAD biosynthetic process (GO:0009435) | 3.13088139 |
| 72 | DNA packaging (GO:0006323) | 3.10260990 |
| 73 | coenzyme catabolic process (GO:0009109) | 3.09110848 |
| 74 | centriole assembly (GO:0098534) | 3.05189463 |
| 75 | head development (GO:0060322) | 3.03590380 |
| 76 | phosphatidylethanolamine metabolic process (GO:0046337) | 3.03361568 |
| 77 | regulation of calcium ion-dependent exocytosis (GO:0017158) | 2.98659070 |
| 78 | alanine transport (GO:0032328) | 2.98528340 |
| 79 | cytoskeletal anchoring at plasma membrane (GO:0007016) | 2.97485872 |
| 80 | tryptophan metabolic process (GO:0006568) | 2.95034254 |
| 81 | spinal cord motor neuron differentiation (GO:0021522) | 2.91635748 |
| 82 | action potential (GO:0001508) | 2.87564801 |
| 83 | regulation of meiosis I (GO:0060631) | 2.86913465 |
| 84 | musculoskeletal movement (GO:0050881) | 2.85100776 |
| 85 | multicellular organismal movement (GO:0050879) | 2.85100776 |
| 86 | chromosome condensation (GO:0030261) | 2.83929979 |
| 87 | intestinal cholesterol absorption (GO:0030299) | 2.83204272 |
| 88 | membrane depolarization during action potential (GO:0086010) | 2.82926624 |
| 89 | male meiosis I (GO:0007141) | 2.81248195 |
| 90 | regulation of centriole replication (GO:0046599) | 2.80951193 |
| 91 | germ cell development (GO:0007281) | 2.79925095 |
| 92 | regulation of microtubule-based movement (GO:0060632) | 2.79303550 |
| 93 | oxidative demethylation (GO:0070989) | 2.77841712 |
| 94 | organic cation transport (GO:0015695) | 2.77799577 |
| 95 | relaxation of smooth muscle (GO:0044557) | 2.76843444 |
| 96 | negative regulation of inclusion body assembly (GO:0090084) | 2.76624291 |
| 97 | multicellular organismal reproductive process (GO:0048609) | 2.76497889 |
| 98 | single strand break repair (GO:0000012) | 2.73273893 |
| 99 | reflex (GO:0060004) | 2.73153307 |
| 100 | pattern specification involved in kidney development (GO:0061004) | 2.71137534 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.21480027 |
| 2 | GBX2_23144817_ChIP-Seq_PC3_Human | 3.49688177 |
| 3 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.39067079 |
| 4 | VDR_22108803_ChIP-Seq_LS180_Human | 3.11034978 |
| 5 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.09991749 |
| 6 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.91713340 |
| 7 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.61061518 |
| 8 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.43823403 |
| 9 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.20905456 |
| 10 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.14540681 |
| 11 | FUS_26573619_Chip-Seq_HEK293_Human | 2.12153985 |
| 12 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.11594738 |
| 13 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.04684250 |
| 14 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 2.02326137 |
| 15 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.92132799 |
| 16 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.90549396 |
| 17 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.90549396 |
| 18 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.81820864 |
| 19 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.81820864 |
| 20 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.79498565 |
| 21 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.71005147 |
| 22 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.69062356 |
| 23 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.68500595 |
| 24 | * P300_19829295_ChIP-Seq_ESCs_Human | 1.60715607 |
| 25 | ERA_21632823_ChIP-Seq_H3396_Human | 1.60575964 |
| 26 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.60524698 |
| 27 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.55214020 |
| 28 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.53167030 |
| 29 | AR_25329375_ChIP-Seq_VCAP_Human | 1.49507805 |
| 30 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.48988440 |
| 31 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.48366417 |
| 32 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.48243541 |
| 33 | * RUNX2_22187159_ChIP-Seq_PCA_Human | 1.40462539 |
| 34 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.39976424 |
| 35 | * SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.37195393 |
| 36 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.36789903 |
| 37 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.36479624 |
| 38 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.35384509 |
| 39 | STAT3_23295773_ChIP-Seq_U87_Human | 1.35177990 |
| 40 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.34745679 |
| 41 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.34585302 |
| 42 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 1.32881937 |
| 43 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.32781426 |
| 44 | TBL1_22424771_ChIP-Seq_293T_Human | 1.32442105 |
| 45 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.31491607 |
| 46 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.28756709 |
| 47 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 1.27128058 |
| 48 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.26697432 |
| 49 | TCF4_23295773_ChIP-Seq_U87_Human | 1.26659198 |
| 50 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.26561754 |
| 51 | * EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.26411109 |
| 52 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.22795893 |
| 53 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.22489625 |
| 54 | * OCT4_20526341_ChIP-Seq_ESCs_Human | 1.22027342 |
| 55 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.20933933 |
| 56 | NFYB_21822215_ChIP-Seq_K562_Human | 1.20660767 |
| 57 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.20367214 |
| 58 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.19181425 |
| 59 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.18827627 |
| 60 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.18562526 |
| 61 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.17281162 |
| 62 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.17095888 |
| 63 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.16892974 |
| 64 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.16550924 |
| 65 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.16293053 |
| 66 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.16064672 |
| 67 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.15994270 |
| 68 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.15622629 |
| 69 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.15263150 |
| 70 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.14913077 |
| 71 | NFYA_21822215_ChIP-Seq_K562_Human | 1.14252216 |
| 72 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.13428539 |
| 73 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.13119617 |
| 74 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.13021105 |
| 75 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.12720696 |
| 76 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.12717227 |
| 77 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.12386563 |
| 78 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.12233045 |
| 79 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.11270687 |
| 80 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.10862933 |
| 81 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.09307480 |
| 82 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.09072118 |
| 83 | NCOR_22424771_ChIP-Seq_293T_Human | 1.08553339 |
| 84 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.08012834 |
| 85 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.06215677 |
| 86 | KDM2B_26808549_Chip-Seq_REH_Human | 1.05774509 |
| 87 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.04495577 |
| 88 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.02437507 |
| 89 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.02017514 |
| 90 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.01645353 |
| 91 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.00890102 |
| 92 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.00715762 |
| 93 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.00426620 |
| 94 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 0.99812439 |
| 95 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 0.99602948 |
| 96 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 0.99567767 |
| 97 | TAF2_19829295_ChIP-Seq_ESCs_Human | 0.98698726 |
| 98 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 0.97663628 |
| 99 | * CTCF_20526341_ChIP-Seq_ESCs_Human | 0.97623705 |
| 100 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 0.97218986 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 6.62884140 |
| 2 | MP0003787_abnormal_imprinting | 3.47830592 |
| 3 | MP0003698_abnormal_male_reproductive | 3.06986140 |
| 4 | MP0005377_hearing/vestibular/ear_phenot | 3.03195629 |
| 5 | MP0003878_abnormal_ear_physiology | 3.03195629 |
| 6 | MP0003879_abnormal_hair_cell | 2.78786473 |
| 7 | MP0008877_abnormal_DNA_methylation | 2.71200373 |
| 8 | MP0005670_abnormal_white_adipose | 2.43244560 |
| 9 | MP0001929_abnormal_gametogenesis | 2.31757079 |
| 10 | MP0005646_abnormal_pituitary_gland | 2.11814990 |
| 11 | MP0005551_abnormal_eye_electrophysiolog | 2.03291967 |
| 12 | MP0008961_abnormal_basal_metabolism | 1.98537900 |
| 13 | MP0001486_abnormal_startle_reflex | 1.95923605 |
| 14 | MP0003283_abnormal_digestive_organ | 1.94693924 |
| 15 | MP0002735_abnormal_chemical_nociception | 1.88584099 |
| 16 | MP0003195_calcinosis | 1.88468138 |
| 17 | MP0001501_abnormal_sleep_pattern | 1.86161218 |
| 18 | MP0010386_abnormal_urinary_bladder | 1.85599587 |
| 19 | MP0002064_seizures | 1.79142688 |
| 20 | MP0009745_abnormal_behavioral_response | 1.74941084 |
| 21 | MP0001968_abnormal_touch/_nociception | 1.69603787 |
| 22 | MP0000569_abnormal_digit_pigmentation | 1.67881439 |
| 23 | MP0004133_heterotaxia | 1.66706229 |
| 24 | MP0001485_abnormal_pinna_reflex | 1.64026110 |
| 25 | MP0001873_stomach_inflammation | 1.63986658 |
| 26 | MP0005448_abnormal_energy_balance | 1.62598420 |
| 27 | MP0003119_abnormal_digestive_system | 1.58015950 |
| 28 | MP0005379_endocrine/exocrine_gland_phen | 1.56648188 |
| 29 | MP0002736_abnormal_nociception_after | 1.54013441 |
| 30 | MP0002161_abnormal_fertility/fecundity | 1.52521052 |
| 31 | MP0002822_catalepsy | 1.51828248 |
| 32 | MP0002733_abnormal_thermal_nociception | 1.50849827 |
| 33 | MP0006276_abnormal_autonomic_nervous | 1.49608373 |
| 34 | MP0002272_abnormal_nervous_system | 1.47341823 |
| 35 | MP0002210_abnormal_sex_determination | 1.44482967 |
| 36 | MP0005360_urolithiasis | 1.42322726 |
| 37 | MP0003137_abnormal_impulse_conducting | 1.37991823 |
| 38 | MP0005423_abnormal_somatic_nervous | 1.37793847 |
| 39 | MP0005645_abnormal_hypothalamus_physiol | 1.37563841 |
| 40 | MP0009697_abnormal_copulation | 1.36708205 |
| 41 | MP0000230_abnormal_systemic_arterial | 1.35441804 |
| 42 | MP0003011_delayed_dark_adaptation | 1.33794631 |
| 43 | MP0003959_abnormal_lean_body | 1.33415736 |
| 44 | MP0003718_maternal_effect | 1.32664281 |
| 45 | MP0009046_muscle_twitch | 1.32646038 |
| 46 | MP0000631_abnormal_neuroendocrine_gland | 1.32300750 |
| 47 | MP0003646_muscle_fatigue | 1.27151153 |
| 48 | MP0008872_abnormal_physiological_respon | 1.23399676 |
| 49 | MP0002572_abnormal_emotion/affect_behav | 1.19953234 |
| 50 | MP0001963_abnormal_hearing_physiology | 1.19540460 |
| 51 | MP0003635_abnormal_synaptic_transmissio | 1.19171010 |
| 52 | MP0001664_abnormal_digestion | 1.18567677 |
| 53 | MP0001970_abnormal_pain_threshold | 1.18553612 |
| 54 | MP0002067_abnormal_sensory_capabilities | 1.13375924 |
| 55 | MP0001145_abnormal_male_reproductive | 1.12534606 |
| 56 | MP0004859_abnormal_synaptic_plasticity | 1.10914932 |
| 57 | MP0002229_neurodegeneration | 1.08815191 |
| 58 | MP0002102_abnormal_ear_morphology | 1.08360881 |
| 59 | MP0000653_abnormal_sex_gland | 1.08069332 |
| 60 | MP0005365_abnormal_bile_salt | 1.07981205 |
| 61 | MP0002734_abnormal_mechanical_nocicepti | 1.05593888 |
| 62 | MP0001765_abnormal_ion_homeostasis | 1.01619399 |
| 63 | MP0002163_abnormal_gland_morphology | 1.01219517 |
| 64 | MP0005395_other_phenotype | 1.01152566 |
| 65 | MP0001666_abnormal_nutrient_absorption | 1.01111377 |
| 66 | MP0004742_abnormal_vestibular_system | 1.00050067 |
| 67 | MP0000470_abnormal_stomach_morphology | 0.99946842 |
| 68 | MP0000026_abnormal_inner_ear | 0.98439012 |
| 69 | MP0005253_abnormal_eye_physiology | 0.97669130 |
| 70 | MP0002069_abnormal_eating/drinking_beha | 0.96912958 |
| 71 | MP0001440_abnormal_grooming_behavior | 0.95404202 |
| 72 | MP0002837_dystrophic_cardiac_calcinosis | 0.95285727 |
| 73 | MP0002168_other_aberrant_phenotype | 0.93099825 |
| 74 | MP0002138_abnormal_hepatobiliary_system | 0.92576314 |
| 75 | MP0002909_abnormal_adrenal_gland | 0.92346270 |
| 76 | MP0005167_abnormal_blood-brain_barrier | 0.91731886 |
| 77 | MP0008004_abnormal_stomach_pH | 0.89684241 |
| 78 | MP0005174_abnormal_tail_pigmentation | 0.89282056 |
| 79 | MP0002063_abnormal_learning/memory/cond | 0.89248245 |
| 80 | MP0000015_abnormal_ear_pigmentation | 0.88977289 |
| 81 | MP0004130_abnormal_muscle_cell | 0.88637098 |
| 82 | MP0003045_fibrosis | 0.87238735 |
| 83 | MP0002160_abnormal_reproductive_system | 0.86016418 |
| 84 | MP0002557_abnormal_social/conspecific_i | 0.84969801 |
| 85 | MP0005595_abnormal_vascular_smooth | 0.84067323 |
| 86 | MP0003315_abnormal_perineum_morphology | 0.81733286 |
| 87 | MP0004085_abnormal_heartbeat | 0.81194725 |
| 88 | MP0002095_abnormal_skin_pigmentation | 0.81062289 |
| 89 | MP0004142_abnormal_muscle_tone | 0.80619391 |
| 90 | MP0005085_abnormal_gallbladder_physiolo | 0.80592069 |
| 91 | MP0000465_gastrointestinal_hemorrhage | 0.80236910 |
| 92 | MP0002638_abnormal_pupillary_reflex | 0.79870781 |
| 93 | MP0005332_abnormal_amino_acid | 0.79399294 |
| 94 | MP0002693_abnormal_pancreas_physiology | 0.79262007 |
| 95 | MP0003183_abnormal_peptide_metabolism | 0.77609900 |
| 96 | MP0010329_abnormal_lipoprotein_level | 0.77387312 |
| 97 | MP0005266_abnormal_metabolism | 0.77203187 |
| 98 | MP0005535_abnormal_body_temperature | 0.75626593 |
| 99 | MP0002078_abnormal_glucose_homeostasis | 0.75114813 |
| 100 | MP0002928_abnormal_bile_duct | 0.75112707 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Absent/shortened dynein arms (HP:0200106) | 8.37990694 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 8.37990694 |
| 3 | Chronic hepatic failure (HP:0100626) | 5.57358336 |
| 4 | Abnormal ciliary motility (HP:0012262) | 4.98587702 |
| 5 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.82866674 |
| 6 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.82866674 |
| 7 | Severe visual impairment (HP:0001141) | 4.71588124 |
| 8 | Nephronophthisis (HP:0000090) | 4.33260165 |
| 9 | Pancreatic cysts (HP:0001737) | 4.21063789 |
| 10 | Tubulointerstitial nephritis (HP:0001970) | 4.07415588 |
| 11 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.06814587 |
| 12 | Pancreatic fibrosis (HP:0100732) | 3.81129242 |
| 13 | Abnormality of the renal medulla (HP:0100957) | 3.58880194 |
| 14 | True hermaphroditism (HP:0010459) | 3.48852364 |
| 15 | Cystic liver disease (HP:0006706) | 3.36890589 |
| 16 | Attenuation of retinal blood vessels (HP:0007843) | 3.21965766 |
| 17 | Abnormality of midbrain morphology (HP:0002418) | 3.20874730 |
| 18 | Molar tooth sign on MRI (HP:0002419) | 3.20874730 |
| 19 | Increased neuronal autofluorescent lipopigment (HP:0002074) | 3.01831057 |
| 20 | Infertility (HP:0000789) | 2.91395397 |
| 21 | Clumsiness (HP:0002312) | 2.87339924 |
| 22 | Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204) | 2.85549266 |
| 23 | Pigmentary retinal degeneration (HP:0001146) | 2.83571356 |
| 24 | Congenital stationary night blindness (HP:0007642) | 2.81046287 |
| 25 | Atonic seizures (HP:0010819) | 2.79980009 |
| 26 | Progressive cerebellar ataxia (HP:0002073) | 2.78685387 |
| 27 | Polydipsia (HP:0001959) | 2.78081880 |
| 28 | Abnormal drinking behavior (HP:0030082) | 2.78081880 |
| 29 | Occipital encephalocele (HP:0002085) | 2.77966344 |
| 30 | Congenital sensorineural hearing impairment (HP:0008527) | 2.74492699 |
| 31 | Tubulointerstitial abnormality (HP:0001969) | 2.73013773 |
| 32 | Hypoplasia of the uterus (HP:0000013) | 2.71048364 |
| 33 | Protruding tongue (HP:0010808) | 2.70933748 |
| 34 | Stage 5 chronic kidney disease (HP:0003774) | 2.68831692 |
| 35 | Abolished electroretinogram (ERG) (HP:0000550) | 2.66857396 |
| 36 | Truncal obesity (HP:0001956) | 2.63103789 |
| 37 | Renovascular hypertension (HP:0100817) | 2.62082620 |
| 38 | Anencephaly (HP:0002323) | 2.61827706 |
| 39 | Growth hormone deficiency (HP:0000824) | 2.54165935 |
| 40 | Tubular atrophy (HP:0000092) | 2.53247111 |
| 41 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.51752798 |
| 42 | Azoospermia (HP:0000027) | 2.50937367 |
| 43 | Abnormality of the renal cortex (HP:0011035) | 2.50426119 |
| 44 | Hypoplastic ischia (HP:0003175) | 2.50293381 |
| 45 | Enlarged epiphyses (HP:0010580) | 2.50176643 |
| 46 | Male pseudohermaphroditism (HP:0000037) | 2.49537262 |
| 47 | Inability to walk (HP:0002540) | 2.42924852 |
| 48 | Partial agenesis of the corpus callosum (HP:0001338) | 2.41303583 |
| 49 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 2.40734617 |
| 50 | Increased cerebral lipofuscin (HP:0011813) | 2.33131568 |
| 51 | Sensory axonal neuropathy (HP:0003390) | 2.32028762 |
| 52 | Large for gestational age (HP:0001520) | 2.30753451 |
| 53 | Agitation (HP:0000713) | 2.30244888 |
| 54 | Furrowed tongue (HP:0000221) | 2.27170105 |
| 55 | Nasal polyposis (HP:0100582) | 2.25696328 |
| 56 | Congenital hepatic fibrosis (HP:0002612) | 2.23383323 |
| 57 | Chorioretinal atrophy (HP:0000533) | 2.23319365 |
| 58 | Abnormal spermatogenesis (HP:0008669) | 2.22632466 |
| 59 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.19629326 |
| 60 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 2.17655108 |
| 61 | Abnormality of macular pigmentation (HP:0008002) | 2.13916643 |
| 62 | Decreased circulating renin level (HP:0003351) | 2.12138645 |
| 63 | Amelogenesis imperfecta (HP:0000705) | 2.11372418 |
| 64 | Sclerocornea (HP:0000647) | 2.11122715 |
| 65 | Pendular nystagmus (HP:0012043) | 2.09092322 |
| 66 | Abnormality of the ischium (HP:0003174) | 2.08422599 |
| 67 | Keratoconus (HP:0000563) | 2.06132884 |
| 68 | Increased corneal curvature (HP:0100692) | 2.06132884 |
| 69 | Fibular hypoplasia (HP:0003038) | 2.02035894 |
| 70 | Polyuria (HP:0000103) | 2.00353783 |
| 71 | Cerebellar dysplasia (HP:0007033) | 1.99097134 |
| 72 | Fair hair (HP:0002286) | 1.93907673 |
| 73 | Abnormality of the right ventricle (HP:0001707) | 1.93701247 |
| 74 | Aplasia/hypoplasia of the uterus (HP:0008684) | 1.90846677 |
| 75 | Intellectual disability, moderate (HP:0002342) | 1.85717616 |
| 76 | Dialeptic seizures (HP:0011146) | 1.85628445 |
| 77 | Abnormal pancreas size (HP:0012094) | 1.85150877 |
| 78 | Abnormal albumin level (HP:0012116) | 1.84708221 |
| 79 | Hypoalbuminemia (HP:0003073) | 1.84708221 |
| 80 | Abnormal urine output (HP:0012590) | 1.84206593 |
| 81 | Abnormality of dental color (HP:0011073) | 1.81671967 |
| 82 | Cone-rod dystrophy (HP:0000548) | 1.79082065 |
| 83 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.78945027 |
| 84 | Chronic otitis media (HP:0000389) | 1.78322620 |
| 85 | Fibular aplasia (HP:0002990) | 1.78025360 |
| 86 | Abnormal biliary tract physiology (HP:0012439) | 1.75590154 |
| 87 | Bile duct proliferation (HP:0001408) | 1.75590154 |
| 88 | Abnormality of renal excretion (HP:0011036) | 1.74206323 |
| 89 | Bilateral microphthalmos (HP:0007633) | 1.72733222 |
| 90 | Abnormality of the nasal mucosa (HP:0000433) | 1.72521543 |
| 91 | Focal seizures (HP:0007359) | 1.72180227 |
| 92 | Hyperkalemia (HP:0002153) | 1.71469138 |
| 93 | Portal hypertension (HP:0001409) | 1.71288731 |
| 94 | Abnormality of purine metabolism (HP:0004352) | 1.70897874 |
| 95 | Decreased central vision (HP:0007663) | 1.70662976 |
| 96 | Genetic anticipation (HP:0003743) | 1.68763392 |
| 97 | Tubulointerstitial fibrosis (HP:0005576) | 1.66438332 |
| 98 | Type II lissencephaly (HP:0007260) | 1.65727442 |
| 99 | Hypothermia (HP:0002045) | 1.62198263 |
| 100 | Abnormality of the hepatic vasculature (HP:0006707) | 1.62057133 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SIK2 | 4.76982732 |
| 2 | PLK4 | 4.58509095 |
| 3 | PINK1 | 3.35452048 |
| 4 | BMPR1B | 2.94132786 |
| 5 | INSRR | 2.64384629 |
| 6 | CAMKK2 | 2.60156404 |
| 7 | FRK | 2.54798213 |
| 8 | ACVR1B | 2.50465526 |
| 9 | ZAK | 2.34574728 |
| 10 | TYRO3 | 2.17870750 |
| 11 | MAP4K2 | 2.06987257 |
| 12 | BRD4 | 1.98936540 |
| 13 | STK38 | 1.92403887 |
| 14 | MAP3K4 | 1.89974437 |
| 15 | MST1R | 1.78360019 |
| 16 | NTRK3 | 1.62676820 |
| 17 | TIE1 | 1.54857715 |
| 18 | PIK3CG | 1.53824014 |
| 19 | CAMK1G | 1.49131702 |
| 20 | CDK19 | 1.47892135 |
| 21 | MAP3K9 | 1.47596382 |
| 22 | TLK1 | 1.43576912 |
| 23 | MARK3 | 1.41194135 |
| 24 | STK16 | 1.40614506 |
| 25 | WNK3 | 1.38949675 |
| 26 | PNCK | 1.36482923 |
| 27 | NUAK1 | 1.27070788 |
| 28 | ADRBK2 | 1.26686858 |
| 29 | TGFBR1 | 1.25019266 |
| 30 | WNK1 | 1.23831369 |
| 31 | GRK1 | 1.20886701 |
| 32 | TEC | 1.17651429 |
| 33 | PLK2 | 1.17482338 |
| 34 | BCKDK | 1.13138446 |
| 35 | ITK | 1.12779299 |
| 36 | CAMK1D | 1.12063278 |
| 37 | PRKG2 | 1.07470392 |
| 38 | MARK1 | 1.03227071 |
| 39 | DDR2 | 1.03043087 |
| 40 | CASK | 1.00329710 |
| 41 | MAPKAPK3 | 0.97864338 |
| 42 | NEK2 | 0.92329323 |
| 43 | PRKD3 | 0.91858591 |
| 44 | TNIK | 0.89643675 |
| 45 | TESK1 | 0.89446543 |
| 46 | DAPK1 | 0.88089782 |
| 47 | RPS6KA5 | 0.87425350 |
| 48 | MAP2K1 | 0.86880236 |
| 49 | DAPK2 | 0.85609511 |
| 50 | DYRK2 | 0.84927402 |
| 51 | ADRBK1 | 0.82692776 |
| 52 | MYLK | 0.82386887 |
| 53 | STK38L | 0.82244993 |
| 54 | WNK4 | 0.81652357 |
| 55 | PRKCQ | 0.81628989 |
| 56 | PASK | 0.81535756 |
| 57 | BRSK2 | 0.80838005 |
| 58 | PRKCG | 0.78547909 |
| 59 | LIMK1 | 0.77424256 |
| 60 | MAP2K7 | 0.76427627 |
| 61 | MAPK13 | 0.72879305 |
| 62 | PTK2B | 0.72388601 |
| 63 | SYK | 0.72325757 |
| 64 | SGK494 | 0.71592191 |
| 65 | SGK223 | 0.71592191 |
| 66 | TAOK3 | 0.70581322 |
| 67 | MAPK15 | 0.69855677 |
| 68 | BTK | 0.66873535 |
| 69 | PDK1 | 0.66064994 |
| 70 | CAMK1 | 0.64239131 |
| 71 | PKN1 | 0.62945256 |
| 72 | PRKAA1 | 0.58827427 |
| 73 | CAMKK1 | 0.58727359 |
| 74 | PAK6 | 0.58165385 |
| 75 | PRKAA2 | 0.54657005 |
| 76 | MAP2K6 | 0.52105073 |
| 77 | PRKG1 | 0.51596844 |
| 78 | NTRK2 | 0.49798372 |
| 79 | PDPK1 | 0.49445385 |
| 80 | SGK2 | 0.47704896 |
| 81 | PRKCZ | 0.45641798 |
| 82 | HIPK2 | 0.42276635 |
| 83 | PRKCH | 0.41424052 |
| 84 | CDK7 | 0.38552746 |
| 85 | ICK | 0.38120430 |
| 86 | CDK12 | 0.37613847 |
| 87 | ROCK1 | 0.36056302 |
| 88 | PHKG2 | 0.35422806 |
| 89 | PHKG1 | 0.35422806 |
| 90 | PRKCB | 0.30219605 |
| 91 | CAMK2A | 0.29638716 |
| 92 | PRKACA | 0.27910483 |
| 93 | CSNK1D | 0.26695216 |
| 94 | RPS6KA3 | 0.26658329 |
| 95 | CDK3 | 0.26400103 |
| 96 | CAMK2B | 0.25777096 |
| 97 | OXSR1 | 0.25260085 |
| 98 | MAP3K6 | 0.23711087 |
| 99 | VRK1 | 0.23470907 |
| 100 | CSNK1G3 | 0.22984122 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Olfactory transduction_Homo sapiens_hsa04740 | 3.58029393 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.51176639 |
| 3 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.88346832 |
| 4 | Nicotine addiction_Homo sapiens_hsa05033 | 2.58729781 |
| 5 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 2.58007755 |
| 6 | Phototransduction_Homo sapiens_hsa04744 | 2.56604353 |
| 7 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 2.38442078 |
| 8 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.35988658 |
| 9 | Taste transduction_Homo sapiens_hsa04742 | 2.28731162 |
| 10 | Fat digestion and absorption_Homo sapiens_hsa04975 | 2.26151998 |
| 11 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 2.13754470 |
| 12 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.07485732 |
| 13 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 2.00576513 |
| 14 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.99209647 |
| 15 | Pancreatic secretion_Homo sapiens_hsa04972 | 1.95664113 |
| 16 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.95032075 |
| 17 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.77583483 |
| 18 | ABC transporters_Homo sapiens_hsa02010 | 1.75951949 |
| 19 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.72018843 |
| 20 | Sulfur metabolism_Homo sapiens_hsa00920 | 1.63523129 |
| 21 | Morphine addiction_Homo sapiens_hsa05032 | 1.58474005 |
| 22 | Circadian entrainment_Homo sapiens_hsa04713 | 1.53676554 |
| 23 | Cyanoamino acid metabolism_Homo sapiens_hsa00460 | 1.48920838 |
| 24 | Salivary secretion_Homo sapiens_hsa04970 | 1.38045693 |
| 25 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.36662636 |
| 26 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.34193184 |
| 27 | Insulin secretion_Homo sapiens_hsa04911 | 1.31658694 |
| 28 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.31012049 |
| 29 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.30974436 |
| 30 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.30461919 |
| 31 | Gastric acid secretion_Homo sapiens_hsa04971 | 1.30268227 |
| 32 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.28013457 |
| 33 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.27388096 |
| 34 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.27120039 |
| 35 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.26463840 |
| 36 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.23321479 |
| 37 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.22133806 |
| 38 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.19943419 |
| 39 | Sulfur relay system_Homo sapiens_hsa04122 | 1.02856673 |
| 40 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.00045097 |
| 41 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.99909610 |
| 42 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.99234603 |
| 43 | Gap junction_Homo sapiens_hsa04540 | 0.96239211 |
| 44 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.91047926 |
| 45 | GABAergic synapse_Homo sapiens_hsa04727 | 0.90799314 |
| 46 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.90134187 |
| 47 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.89902993 |
| 48 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.89819166 |
| 49 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.88806510 |
| 50 | Retinol metabolism_Homo sapiens_hsa00830 | 0.84720635 |
| 51 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.82882606 |
| 52 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.81542801 |
| 53 | Circadian rhythm_Homo sapiens_hsa04710 | 0.79740091 |
| 54 | Purine metabolism_Homo sapiens_hsa00230 | 0.78063913 |
| 55 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.78020079 |
| 56 | Peroxisome_Homo sapiens_hsa04146 | 0.77624465 |
| 57 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.77573256 |
| 58 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.77572645 |
| 59 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.75268077 |
| 60 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.74535703 |
| 61 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.73948598 |
| 62 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.69112818 |
| 63 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.65556258 |
| 64 | Renin secretion_Homo sapiens_hsa04924 | 0.63648253 |
| 65 | Basal transcription factors_Homo sapiens_hsa03022 | 0.63196191 |
| 66 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.62938811 |
| 67 | RNA polymerase_Homo sapiens_hsa03020 | 0.61734686 |
| 68 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.59354278 |
| 69 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.59139667 |
| 70 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.58238492 |
| 71 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.57771906 |
| 72 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.57476987 |
| 73 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.56936541 |
| 74 | Cocaine addiction_Homo sapiens_hsa05030 | 0.55347373 |
| 75 | RNA transport_Homo sapiens_hsa03013 | 0.52947292 |
| 76 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.52810411 |
| 77 | Histidine metabolism_Homo sapiens_hsa00340 | 0.52153412 |
| 78 | Long-term depression_Homo sapiens_hsa04730 | 0.51655214 |
| 79 | Bile secretion_Homo sapiens_hsa04976 | 0.51297962 |
| 80 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.50095306 |
| 81 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.48382856 |
| 82 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.48135100 |
| 83 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.47800336 |
| 84 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.47638797 |
| 85 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.44693332 |
| 86 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.43067930 |
| 87 | Allograft rejection_Homo sapiens_hsa05330 | 0.40610400 |
| 88 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.39238573 |
| 89 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.37872267 |
| 90 | Metabolic pathways_Homo sapiens_hsa01100 | 0.37802491 |
| 91 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.37204172 |
| 92 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.36046743 |
| 93 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.35305964 |
| 94 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.34972626 |
| 95 | RNA degradation_Homo sapiens_hsa03018 | 0.34057012 |
| 96 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.33831394 |
| 97 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.30395535 |
| 98 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.29468866 |
| 99 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.27209569 |
| 100 | Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770 | 0.26906759 |

