

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm motility (GO:0030317) | 9.21552401 |
| 2 | spermatid development (GO:0007286) | 7.77070088 |
| 3 | multicellular organism reproduction (GO:0032504) | 7.29426386 |
| 4 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 6.94656329 |
| 5 | fusion of sperm to egg plasma membrane (GO:0007342) | 6.65022810 |
| 6 | positive regulation of catecholamine secretion (GO:0033605) | 6.43753335 |
| 7 | sperm-egg recognition (GO:0035036) | 6.11150599 |
| 8 | binding of sperm to zona pellucida (GO:0007339) | 6.09948099 |
| 9 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 6.04689600 |
| 10 | male meiosis (GO:0007140) | 6.04159106 |
| 11 | motile cilium assembly (GO:0044458) | 5.95718846 |
| 12 | regulation of oxidative stress-induced neuron death (GO:1903203) | 5.95241100 |
| 13 | reproduction (GO:0000003) | 5.68827453 |
| 14 | axonemal dynein complex assembly (GO:0070286) | 5.51054505 |
| 15 | plasma membrane fusion (GO:0045026) | 5.32019195 |
| 16 | cell-cell recognition (GO:0009988) | 5.16812043 |
| 17 | regulation of cilium movement (GO:0003352) | 5.08689981 |
| 18 | calcium ion-dependent exocytosis (GO:0017156) | 4.98679751 |
| 19 | organic cation transport (GO:0015695) | 4.95961705 |
| 20 | coenzyme catabolic process (GO:0009109) | 4.84844313 |
| 21 | protein polyglutamylation (GO:0018095) | 4.82570813 |
| 22 | single fertilization (GO:0007338) | 4.74174200 |
| 23 | microtubule depolymerization (GO:0007019) | 4.67550621 |
| 24 | response to muscle activity (GO:0014850) | 4.64483257 |
| 25 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.59392365 |
| 26 | rRNA methylation (GO:0031167) | 4.59314785 |
| 27 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 4.54044997 |
| 28 | epithelial cilium movement (GO:0003351) | 4.53360595 |
| 29 | response to pheromone (GO:0019236) | 4.41868124 |
| 30 | sperm capacitation (GO:0048240) | 4.39678688 |
| 31 | germ cell development (GO:0007281) | 4.38151452 |
| 32 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.34504300 |
| 33 | polyamine biosynthetic process (GO:0006596) | 4.26252728 |
| 34 | relaxation of smooth muscle (GO:0044557) | 4.23641517 |
| 35 | spermatid nucleus differentiation (GO:0007289) | 4.21280528 |
| 36 | centriole assembly (GO:0098534) | 4.09694315 |
| 37 | rRNA modification (GO:0000154) | 4.07103140 |
| 38 | spermatogenesis (GO:0007283) | 3.98399560 |
| 39 | male gamete generation (GO:0048232) | 3.96978575 |
| 40 | protein targeting to Golgi (GO:0000042) | 3.81843540 |
| 41 | mitochondrion degradation (GO:0000422) | 3.78786257 |
| 42 | TOR signaling (GO:0031929) | 3.76256456 |
| 43 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.75219232 |
| 44 | establishment of protein localization to Golgi (GO:0072600) | 3.74870448 |
| 45 | potassium ion export (GO:0071435) | 3.74770054 |
| 46 | regulation of oxidative phosphorylation (GO:0002082) | 3.71371387 |
| 47 | centriole replication (GO:0007099) | 3.68028783 |
| 48 | cilium movement (GO:0003341) | 3.67313601 |
| 49 | gamete generation (GO:0007276) | 3.66760977 |
| 50 | synapsis (GO:0007129) | 3.65788238 |
| 51 | protein-DNA complex disassembly (GO:0032986) | 3.65679592 |
| 52 | nucleosome disassembly (GO:0006337) | 3.65679592 |
| 53 | negative regulation of inclusion body assembly (GO:0090084) | 3.65170048 |
| 54 | positive regulation of action potential (GO:0045760) | 3.64131140 |
| 55 | chromosome condensation (GO:0030261) | 3.63594537 |
| 56 | positive regulation of glycolytic process (GO:0045821) | 3.61891778 |
| 57 | microtubule polymerization or depolymerization (GO:0031109) | 3.58328133 |
| 58 | fertilization (GO:0009566) | 3.58195460 |
| 59 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 3.56635858 |
| 60 | single strand break repair (GO:0000012) | 3.56591495 |
| 61 | regulation of microtubule-based movement (GO:0060632) | 3.50757619 |
| 62 | DNA packaging (GO:0006323) | 3.49418249 |
| 63 | cellular ketone body metabolic process (GO:0046950) | 3.47485471 |
| 64 | regulation of dopamine secretion (GO:0014059) | 3.41158700 |
| 65 | urinary tract smooth muscle contraction (GO:0014848) | 3.38428116 |
| 66 | ketone body metabolic process (GO:1902224) | 3.37169007 |
| 67 | tachykinin receptor signaling pathway (GO:0007217) | 3.31602150 |
| 68 | activation of protein kinase B activity (GO:0032148) | 3.29504850 |
| 69 | acrosome assembly (GO:0001675) | 3.27245782 |
| 70 | DNA double-strand break processing (GO:0000729) | 3.20776838 |
| 71 | histone exchange (GO:0043486) | 3.18899016 |
| 72 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 3.17753338 |
| 73 | piRNA metabolic process (GO:0034587) | 3.13531193 |
| 74 | amine biosynthetic process (GO:0009309) | 3.11019966 |
| 75 | cGMP-mediated signaling (GO:0019934) | 3.09702300 |
| 76 | negative regulation of reactive oxygen species metabolic process (GO:2000378) | 3.08507621 |
| 77 | cellular biogenic amine biosynthetic process (GO:0042401) | 3.06856007 |
| 78 | response to acidic pH (GO:0010447) | 3.06738034 |
| 79 | regulation of cellular respiration (GO:0043457) | 3.01879769 |
| 80 | ventricular system development (GO:0021591) | 3.01710373 |
| 81 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.00380221 |
| 82 | aspartate family amino acid catabolic process (GO:0009068) | 2.99355534 |
| 83 | cellular response to toxic substance (GO:0097237) | 2.95642183 |
| 84 | multicellular organismal reproductive process (GO:0048609) | 2.94872990 |
| 85 | regulation of synaptic transmission, dopaminergic (GO:0032225) | 2.91565855 |
| 86 | detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) | 2.89462018 |
| 87 | photoreceptor cell maintenance (GO:0045494) | 2.86658494 |
| 88 | regulation of action potential (GO:0098900) | 2.86064298 |
| 89 | negative regulation of hydrogen peroxide-induced cell death (GO:1903206) | 2.85070744 |
| 90 | microtubule severing (GO:0051013) | 2.83353935 |
| 91 | ADP metabolic process (GO:0046031) | 2.81246794 |
| 92 | negative regulation of Rho protein signal transduction (GO:0035024) | 2.76241440 |
| 93 | androgen biosynthetic process (GO:0006702) | 2.75084398 |
| 94 | protein localization to Golgi apparatus (GO:0034067) | 2.72089367 |
| 95 | axoneme assembly (GO:0035082) | 2.71997402 |
| 96 | polyamine metabolic process (GO:0006595) | 2.71097457 |
| 97 | Leydig cell differentiation (GO:0033327) | 2.70192170 |
| 98 | glutamine family amino acid catabolic process (GO:0009065) | 2.69795847 |
| 99 | meiotic nuclear division (GO:0007126) | 2.67692232 |
| 100 | acrosome reaction (GO:0007340) | 10.0221675 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 5.68882505 |
| 2 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 5.13146754 |
| 3 | IGF1R_20145208_ChIP-Seq_DFB_Human | 3.31917851 |
| 4 | GBX2_23144817_ChIP-Seq_PC3_Human | 3.12535702 |
| 5 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 2.91857190 |
| 6 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.88928922 |
| 7 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.73549944 |
| 8 | VDR_22108803_ChIP-Seq_LS180_Human | 2.52611180 |
| 9 | FUS_26573619_Chip-Seq_HEK293_Human | 2.52444356 |
| 10 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.41118753 |
| 11 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.39699442 |
| 12 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.36614124 |
| 13 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.34534579 |
| 14 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.30781884 |
| 15 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.30781884 |
| 16 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.22506031 |
| 17 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.21113902 |
| 18 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.21113902 |
| 19 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 2.17994513 |
| 20 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.11523298 |
| 21 | P300_19829295_ChIP-Seq_ESCs_Human | 1.90801393 |
| 22 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.78942176 |
| 23 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.77993128 |
| 24 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.69185397 |
| 25 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.60641623 |
| 26 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.59268135 |
| 27 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.57672757 |
| 28 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.56932886 |
| 29 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.54083920 |
| 30 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.52785782 |
| 31 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.51582310 |
| 32 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.51195074 |
| 33 | AR_25329375_ChIP-Seq_VCAP_Human | 1.50071622 |
| 34 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.49111529 |
| 35 | ERA_21632823_ChIP-Seq_H3396_Human | 1.48844333 |
| 36 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.48048127 |
| 37 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.46649298 |
| 38 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.45876591 |
| 39 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.42855504 |
| 40 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.42855504 |
| 41 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.42768772 |
| 42 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.40616313 |
| 43 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.39189679 |
| 44 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.38813348 |
| 45 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.36517542 |
| 46 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.35804093 |
| 47 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.35655888 |
| 48 | TBL1_22424771_ChIP-Seq_293T_Human | 1.35650269 |
| 49 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.35353982 |
| 50 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.34994463 |
| 51 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.34719822 |
| 52 | STAT3_23295773_ChIP-Seq_U87_Human | 1.32209687 |
| 53 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.30984927 |
| 54 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.30128993 |
| 55 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.28729779 |
| 56 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.25856654 |
| 57 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.25762192 |
| 58 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.25531611 |
| 59 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.23133575 |
| 60 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.22641165 |
| 61 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.21743130 |
| 62 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.20289893 |
| 63 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.20063199 |
| 64 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.19279631 |
| 65 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.16467645 |
| 66 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.16434139 |
| 67 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.15259314 |
| 68 | RXR_22108803_ChIP-Seq_LS180_Human | 1.13643920 |
| 69 | NFYB_21822215_ChIP-Seq_K562_Human | 1.13533310 |
| 70 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.13395433 |
| 71 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.13294773 |
| 72 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.13113660 |
| 73 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.08152772 |
| 74 | TCF4_23295773_ChIP-Seq_U87_Human | 1.07646312 |
| 75 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.07438717 |
| 76 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.07263050 |
| 77 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.07076104 |
| 78 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.06493812 |
| 79 | NFYA_21822215_ChIP-Seq_K562_Human | 1.06203887 |
| 80 | TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.05758082 |
| 81 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.05257160 |
| 82 | NCOR_22424771_ChIP-Seq_293T_Human | 1.04977118 |
| 83 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.04964619 |
| 84 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.03258987 |
| 85 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.02809415 |
| 86 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.02715150 |
| 87 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.00961045 |
| 88 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.00599428 |
| 89 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 0.99860744 |
| 90 | P300_27268052_Chip-Seq_Bcells_Human | 0.99079349 |
| 91 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 0.96737454 |
| 92 | DROSHA_22980978_ChIP-Seq_HELA_Human | 0.96219043 |
| 93 | GATA3_26560356_Chip-Seq_TH1_Human | 0.96211812 |
| 94 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 0.95421053 |
| 95 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 0.94478376 |
| 96 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 0.94009048 |
| 97 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 0.93834273 |
| 98 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 0.93826140 |
| 99 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 0.93036787 |
| 100 | TAF2_19829295_ChIP-Seq_ESCs_Human | 0.92934025 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 8.76487529 |
| 2 | MP0004084_abnormal_cardiac_muscle | 3.82387829 |
| 3 | MP0008004_abnormal_stomach_pH | 3.41291250 |
| 4 | MP0003646_muscle_fatigue | 3.14332199 |
| 5 | MP0003698_abnormal_male_reproductive | 3.13850621 |
| 6 | MP0001968_abnormal_touch/_nociception | 2.87841831 |
| 7 | MP0002837_dystrophic_cardiac_calcinosis | 2.82023085 |
| 8 | MP0001929_abnormal_gametogenesis | 2.80599400 |
| 9 | MP0003315_abnormal_perineum_morphology | 2.71611051 |
| 10 | MP0002736_abnormal_nociception_after | 2.69084818 |
| 11 | MP0001984_abnormal_olfaction | 2.54409415 |
| 12 | MP0001529_abnormal_vocalization | 2.48212410 |
| 13 | MP0004036_abnormal_muscle_relaxation | 2.40281812 |
| 14 | MP0000749_muscle_degeneration | 2.30079974 |
| 15 | MP0009697_abnormal_copulation | 2.22599820 |
| 16 | MP0005377_hearing/vestibular/ear_phenot | 2.17285189 |
| 17 | MP0003878_abnormal_ear_physiology | 2.17285189 |
| 18 | MP0003718_maternal_effect | 2.04657415 |
| 19 | MP0005360_urolithiasis | 2.00495550 |
| 20 | MP0003136_yellow_coat_color | 1.96752841 |
| 21 | MP0002160_abnormal_reproductive_system | 1.93993732 |
| 22 | MP0004215_abnormal_myocardial_fiber | 1.88734075 |
| 23 | MP0002132_abnormal_respiratory_system | 1.81775704 |
| 24 | MP0003806_abnormal_nucleotide_metabolis | 1.78121398 |
| 25 | MP0008775_abnormal_heart_ventricle | 1.76528395 |
| 26 | MP0005253_abnormal_eye_physiology | 1.71681343 |
| 27 | MP0002127_abnormal_cardiovascular_syste | 1.68504073 |
| 28 | MP0005167_abnormal_blood-brain_barrier | 1.65813742 |
| 29 | MP0001905_abnormal_dopamine_level | 1.59109888 |
| 30 | MP0001501_abnormal_sleep_pattern | 1.55058463 |
| 31 | MP0002161_abnormal_fertility/fecundity | 1.51497001 |
| 32 | MP0006072_abnormal_retinal_apoptosis | 1.51464494 |
| 33 | MP0002735_abnormal_chemical_nociception | 1.46417946 |
| 34 | MP0002138_abnormal_hepatobiliary_system | 1.42033884 |
| 35 | MP0002102_abnormal_ear_morphology | 1.39148573 |
| 36 | MP0002210_abnormal_sex_determination | 1.38166076 |
| 37 | MP0005394_taste/olfaction_phenotype | 1.35245942 |
| 38 | MP0005499_abnormal_olfactory_system | 1.35245942 |
| 39 | MP0005551_abnormal_eye_electrophysiolog | 1.33581383 |
| 40 | MP0010368_abnormal_lymphatic_system | 1.31621864 |
| 41 | MP0005647_abnormal_sex_gland | 1.29651547 |
| 42 | MP0001485_abnormal_pinna_reflex | 1.28729173 |
| 43 | MP0004484_altered_response_of | 1.27128590 |
| 44 | MP0001486_abnormal_startle_reflex | 1.27011506 |
| 45 | MP0006036_abnormal_mitochondrial_physio | 1.22497257 |
| 46 | MP0000372_irregular_coat_pigmentation | 1.20343217 |
| 47 | MP0001145_abnormal_male_reproductive | 1.19559738 |
| 48 | MP0003045_fibrosis | 1.18212909 |
| 49 | MP0001664_abnormal_digestion | 1.12933862 |
| 50 | MP0004085_abnormal_heartbeat | 1.11204018 |
| 51 | MP0005670_abnormal_white_adipose | 1.10873090 |
| 52 | MP0005646_abnormal_pituitary_gland | 1.09365939 |
| 53 | MP0000653_abnormal_sex_gland | 1.08951121 |
| 54 | MP0008789_abnormal_olfactory_epithelium | 1.06057708 |
| 55 | MP0002272_abnormal_nervous_system | 1.05765703 |
| 56 | MP0002067_abnormal_sensory_capabilities | 1.05107112 |
| 57 | MP0008007_abnormal_cellular_replicative | 1.00786033 |
| 58 | MP0005395_other_phenotype | 0.97600714 |
| 59 | MP0005389_reproductive_system_phenotype | 0.97177493 |
| 60 | MP0005620_abnormal_muscle_contractility | 0.91380319 |
| 61 | MP0008995_early_reproductive_senescence | 0.91335789 |
| 62 | MP0004145_abnormal_muscle_electrophysio | 0.91037673 |
| 63 | MP0004742_abnormal_vestibular_system | 0.85669327 |
| 64 | MP0005330_cardiomyopathy | 0.85283681 |
| 65 | MP0009046_muscle_twitch | 0.82837280 |
| 66 | MP0002269_muscular_atrophy | 0.80977841 |
| 67 | MP0003137_abnormal_impulse_conducting | 0.79394568 |
| 68 | MP0002282_abnormal_trachea_morphology | 0.77606125 |
| 69 | MP0008872_abnormal_physiological_respon | 0.76827970 |
| 70 | MP0002572_abnormal_emotion/affect_behav | 0.76785016 |
| 71 | MP0001963_abnormal_hearing_physiology | 0.76573334 |
| 72 | MP0003633_abnormal_nervous_system | 0.75467551 |
| 73 | MP0000230_abnormal_systemic_arterial | 0.75261460 |
| 74 | MP0005386_behavior/neurological_phenoty | 0.75174718 |
| 75 | MP0004924_abnormal_behavior | 0.75174718 |
| 76 | MP0003631_nervous_system_phenotype | 0.75043691 |
| 77 | MP0000343_altered_response_to | 0.74844172 |
| 78 | MP0009745_abnormal_behavioral_response | 0.73956225 |
| 79 | MP0000470_abnormal_stomach_morphology | 0.71945736 |
| 80 | MP0004782_abnormal_surfactant_physiolog | 0.70436168 |
| 81 | MP0005187_abnormal_penis_morphology | 0.69269295 |
| 82 | MP0008877_abnormal_DNA_methylation | 0.69213331 |
| 83 | MP0003635_abnormal_synaptic_transmissio | 0.68139883 |
| 84 | MP0002229_neurodegeneration | 0.67093291 |
| 85 | MP0010386_abnormal_urinary_bladder | 0.66653587 |
| 86 | MP0006138_congestive_heart_failure | 0.65669480 |
| 87 | MP0002733_abnormal_thermal_nociception | 0.63655453 |
| 88 | MP0002277_abnormal_respiratory_mucosa | 0.62735850 |
| 89 | MP0001970_abnormal_pain_threshold | 0.62411359 |
| 90 | MP0003011_delayed_dark_adaptation | 0.61256800 |
| 91 | MP0004233_abnormal_muscle_weight | 0.61142188 |
| 92 | MP0002108_abnormal_muscle_morphology | 0.57959684 |
| 93 | MP0003950_abnormal_plasma_membrane | 0.57628183 |
| 94 | MP0000538_abnormal_urinary_bladder | 0.56777671 |
| 95 | MP0001544_abnormal_cardiovascular_syste | 0.56714920 |
| 96 | MP0005385_cardiovascular_system_phenoty | 0.56714920 |
| 97 | MP0005391_vision/eye_phenotype | 0.55213346 |
| 98 | MP0003632_abnormal_nervous_system | 0.50616074 |
| 99 | MP0002972_abnormal_cardiac_muscle | 0.50461590 |
| 100 | MP0002752_abnormal_somatic_nervous | 0.50408974 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Resting tremor (HP:0002322) | 5.01930604 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 4.81006012 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 4.81006012 |
| 4 | Type II lissencephaly (HP:0007260) | 4.55722092 |
| 5 | Cerebellar dysplasia (HP:0007033) | 4.16029680 |
| 6 | Retinal dysplasia (HP:0007973) | 4.12737337 |
| 7 | Abnormal ciliary motility (HP:0012262) | 4.11072902 |
| 8 | Hypoplasia of the uterus (HP:0000013) | 4.07884562 |
| 9 | Clumsiness (HP:0002312) | 4.07168399 |
| 10 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.92026149 |
| 11 | Tubulointerstitial nephritis (HP:0001970) | 3.83760418 |
| 12 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.68371737 |
| 13 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.61871435 |
| 14 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.61871435 |
| 15 | Aplasia/hypoplasia of the uterus (HP:0008684) | 3.47949371 |
| 16 | Postural instability (HP:0002172) | 3.45027234 |
| 17 | Congenital sensorineural hearing impairment (HP:0008527) | 3.38357151 |
| 18 | Abnormal sex determination (HP:0012244) | 3.36093121 |
| 19 | Sex reversal (HP:0012245) | 3.36093121 |
| 20 | Chronic hepatic failure (HP:0100626) | 3.26055617 |
| 21 | Attenuation of retinal blood vessels (HP:0007843) | 3.25836832 |
| 22 | Infertility (HP:0000789) | 3.24415437 |
| 23 | Reduced antithrombin III activity (HP:0001976) | 3.12113870 |
| 24 | Inability to walk (HP:0002540) | 3.08214032 |
| 25 | Gonadal dysgenesis (HP:0000133) | 2.96551867 |
| 26 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.95999207 |
| 27 | Protruding tongue (HP:0010808) | 2.89565819 |
| 28 | Hyperkalemia (HP:0002153) | 2.84733962 |
| 29 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 2.81673683 |
| 30 | Male pseudohermaphroditism (HP:0000037) | 2.78644292 |
| 31 | Abnormality of the columella (HP:0009929) | 2.61789751 |
| 32 | Abnormality of macular pigmentation (HP:0008002) | 2.55989116 |
| 33 | Eosinophilia (HP:0001880) | 2.54726309 |
| 34 | Ventricular fibrillation (HP:0001663) | 2.48166635 |
| 35 | Renal cortical cysts (HP:0000803) | 2.43976731 |
| 36 | Abnormal drinking behavior (HP:0030082) | 2.43685465 |
| 37 | Polydipsia (HP:0001959) | 2.43685465 |
| 38 | Colitis (HP:0002583) | 2.40580380 |
| 39 | Anterior segment dysgenesis (HP:0007700) | 2.40024186 |
| 40 | Abnormality of the renal cortex (HP:0011035) | 2.39298076 |
| 41 | Absent speech (HP:0001344) | 2.38532032 |
| 42 | Atonic seizures (HP:0010819) | 2.37134155 |
| 43 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.36981084 |
| 44 | Severe visual impairment (HP:0001141) | 2.34179580 |
| 45 | Prolonged QT interval (HP:0001657) | 2.30217937 |
| 46 | Abnormality of eosinophils (HP:0001879) | 2.26030036 |
| 47 | Germ cell neoplasia (HP:0100728) | 2.25853333 |
| 48 | Abolished electroretinogram (ERG) (HP:0000550) | 2.23354808 |
| 49 | Decreased central vision (HP:0007663) | 2.21588309 |
| 50 | Pancreatic cysts (HP:0001737) | 2.20775105 |
| 51 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.20741224 |
| 52 | Hyporeflexia of lower limbs (HP:0002600) | 2.20296092 |
| 53 | Rhinitis (HP:0012384) | 2.18207455 |
| 54 | Syncope (HP:0001279) | 2.16120796 |
| 55 | Abnormality of the ileum (HP:0001549) | 2.15782437 |
| 56 | Abnormality of the renal medulla (HP:0100957) | 2.13474303 |
| 57 | Enlarged kidneys (HP:0000105) | 2.12218461 |
| 58 | Abnormal EKG (HP:0003115) | 2.11617856 |
| 59 | Myoglobinuria (HP:0002913) | 2.09808686 |
| 60 | Median cleft lip (HP:0000161) | 2.06271109 |
| 61 | Generalized aminoaciduria (HP:0002909) | 2.05075874 |
| 62 | Sensory axonal neuropathy (HP:0003390) | 2.03972883 |
| 63 | Exercise-induced muscle cramps (HP:0003710) | 2.03409797 |
| 64 | Nephronophthisis (HP:0000090) | 2.03321517 |
| 65 | Bulbous nose (HP:0000414) | 2.03130714 |
| 66 | Meckel diverticulum (HP:0002245) | 2.02938310 |
| 67 | Azoospermia (HP:0000027) | 2.02307519 |
| 68 | Occipital encephalocele (HP:0002085) | 2.00329632 |
| 69 | Clubbing of toes (HP:0100760) | 1.99805369 |
| 70 | Broad-based gait (HP:0002136) | 1.98505172 |
| 71 | Optic nerve hypoplasia (HP:0000609) | 1.98463266 |
| 72 | Congenital stationary night blindness (HP:0007642) | 1.95467203 |
| 73 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.94336909 |
| 74 | Exercise-induced myalgia (HP:0003738) | 1.93639307 |
| 75 | Abnormality of lateral ventricle (HP:0030047) | 1.93565886 |
| 76 | Facial hemangioma (HP:0000329) | 1.90677061 |
| 77 | Urinary urgency (HP:0000012) | 1.87998134 |
| 78 | Pancreatic fibrosis (HP:0100732) | 1.87804023 |
| 79 | Abnormal urine output (HP:0012590) | 1.87222949 |
| 80 | Rhabdomyolysis (HP:0003201) | 1.87203289 |
| 81 | Polyuria (HP:0000103) | 1.87069739 |
| 82 | Granulocytopenia (HP:0001913) | 1.82939348 |
| 83 | Molar tooth sign on MRI (HP:0002419) | 1.81632291 |
| 84 | Abnormality of midbrain morphology (HP:0002418) | 1.81632291 |
| 85 | Delayed CNS myelination (HP:0002188) | 1.81353035 |
| 86 | Atrial fibrillation (HP:0005110) | 1.81163475 |
| 87 | Nasal polyposis (HP:0100582) | 1.80039886 |
| 88 | Muscle hypertrophy of the lower extremities (HP:0008968) | 1.79867464 |
| 89 | Calf muscle hypertrophy (HP:0008981) | 1.79413581 |
| 90 | Fair hair (HP:0002286) | 1.77704035 |
| 91 | Hypothermia (HP:0002045) | 1.75989619 |
| 92 | Abnormal spermatogenesis (HP:0008669) | 1.74589421 |
| 93 | Retinal atrophy (HP:0001105) | 1.73967805 |
| 94 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 1.73786348 |
| 95 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 1.73786348 |
| 96 | True hermaphroditism (HP:0010459) | 1.70152755 |
| 97 | Bronchiectasis (HP:0002110) | 1.68678100 |
| 98 | Renal dysplasia (HP:0000110) | 1.68566925 |
| 99 | Facial diplegia (HP:0001349) | 1.68307611 |
| 100 | Primary atrial arrhythmia (HP:0001692) | 1.68271654 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MARK3 | 4.17592215 |
| 2 | ZAK | 3.25889165 |
| 3 | PLK4 | 2.91689426 |
| 4 | FRK | 2.57057966 |
| 5 | OBSCN | 2.52169160 |
| 6 | TLK1 | 2.36236824 |
| 7 | ADRBK2 | 2.23861929 |
| 8 | BMPR1B | 2.10285893 |
| 9 | STK38 | 2.05429940 |
| 10 | PINK1 | 10.2031346 |
| 11 | STK38L | 1.82502971 |
| 12 | PLK2 | 1.81143889 |
| 13 | LATS1 | 1.70059821 |
| 14 | RPS6KA5 | 1.64232620 |
| 15 | PTK2B | 1.62289174 |
| 16 | MYLK | 1.58682954 |
| 17 | MAPK13 | 1.57699049 |
| 18 | MAP2K7 | 1.46954204 |
| 19 | GRK1 | 1.43412009 |
| 20 | INSRR | 1.38800869 |
| 21 | NEK2 | 1.34083464 |
| 22 | WNK4 | 1.30904570 |
| 23 | CSNK1A1L | 1.10511839 |
| 24 | EIF2AK3 | 1.08161302 |
| 25 | TIE1 | 1.07611740 |
| 26 | MET | 1.04708935 |
| 27 | MAP4K2 | 1.02997198 |
| 28 | CDK3 | 0.98671325 |
| 29 | CSNK1G3 | 0.95285583 |
| 30 | VRK1 | 0.92433051 |
| 31 | WNK3 | 0.91142033 |
| 32 | MAPK15 | 0.91102802 |
| 33 | PRKCQ | 0.90555257 |
| 34 | PHKG2 | 0.89341551 |
| 35 | PHKG1 | 0.89341551 |
| 36 | PRKG2 | 0.88673447 |
| 37 | CCNB1 | 0.85526386 |
| 38 | CSNK1G1 | 0.85314885 |
| 39 | PKN1 | 0.83102806 |
| 40 | MST1R | 0.82203543 |
| 41 | ROCK1 | 0.80579851 |
| 42 | ARAF | 0.79790503 |
| 43 | TAOK3 | 0.78386100 |
| 44 | CSNK1G2 | 0.77902433 |
| 45 | NUAK1 | 0.76492470 |
| 46 | SGK494 | 0.75336334 |
| 47 | SGK223 | 0.75336334 |
| 48 | TNIK | 0.67990801 |
| 49 | DYRK2 | 0.66088486 |
| 50 | PRKG1 | 0.56807881 |
| 51 | PRKCE | 0.56596100 |
| 52 | STK4 | 0.52038650 |
| 53 | FLT3 | 0.52010139 |
| 54 | MUSK | 0.49118156 |
| 55 | RPS6KB1 | 0.48940706 |
| 56 | PDK1 | 0.48034955 |
| 57 | CAMKK2 | 0.46757756 |
| 58 | STK3 | 0.45559410 |
| 59 | TGFBR1 | 0.44529328 |
| 60 | DDR2 | 0.44156760 |
| 61 | PDPK1 | 0.43604848 |
| 62 | MAP3K1 | 0.43201176 |
| 63 | FES | 0.42695005 |
| 64 | WNK1 | 0.41526689 |
| 65 | BCKDK | 0.40727482 |
| 66 | MAPK12 | 0.40610463 |
| 67 | ATM | 0.40583444 |
| 68 | FGFR2 | 0.39248972 |
| 69 | KDR | 0.36539310 |
| 70 | TESK1 | 0.36421177 |
| 71 | RPS6KA1 | 0.36053557 |
| 72 | CDK14 | 0.35739829 |
| 73 | DAPK3 | 0.35586026 |
| 74 | CSNK1A1 | 0.34956068 |
| 75 | TEC | 0.34948708 |
| 76 | BRSK2 | 0.34404099 |
| 77 | CAMK1 | 0.33468060 |
| 78 | GRK5 | 0.32354246 |
| 79 | CSNK1D | 0.31519222 |
| 80 | KIT | 0.30694360 |
| 81 | SYK | 0.30387525 |
| 82 | PAK3 | 0.30113119 |
| 83 | EGFR | 0.29765152 |
| 84 | PRKCG | 0.29619838 |
| 85 | PIK3CG | 0.28113462 |
| 86 | PLK3 | 0.26965609 |
| 87 | CAMK2D | 0.26680036 |
| 88 | PRKACA | 0.26540022 |
| 89 | MAP3K5 | 0.25688694 |
| 90 | MARK1 | 0.24779959 |
| 91 | BTK | 0.24596317 |
| 92 | TXK | 0.24115204 |
| 93 | SRPK1 | 0.24104575 |
| 94 | PAK1 | 0.23993948 |
| 95 | CAMK2A | 0.23440781 |
| 96 | CDK5 | 0.21743054 |
| 97 | ADRBK1 | 0.21236722 |
| 98 | NEK6 | 0.20363175 |
| 99 | PRKAA2 | 0.19996266 |
| 100 | MAP3K11 | 0.18670633 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.02953485 |
| 2 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 3.85945004 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.31703818 |
| 4 | Nitrogen metabolism_Homo sapiens_hsa00910 | 3.17272126 |
| 5 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.89923789 |
| 6 | Gap junction_Homo sapiens_hsa04540 | 2.62669714 |
| 7 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.60514044 |
| 8 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 2.42668291 |
| 9 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 2.23795269 |
| 10 | Arginine biosynthesis_Homo sapiens_hsa00220 | 2.09332867 |
| 11 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.97443549 |
| 12 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.91288382 |
| 13 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.86069232 |
| 14 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.71205584 |
| 15 | Taste transduction_Homo sapiens_hsa04742 | 1.69582591 |
| 16 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.50937962 |
| 17 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.48580649 |
| 18 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.43114380 |
| 19 | Phototransduction_Homo sapiens_hsa04744 | 1.41697613 |
| 20 | Allograft rejection_Homo sapiens_hsa05330 | 1.37701324 |
| 21 | Alcoholism_Homo sapiens_hsa05034 | 1.34767242 |
| 22 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.33144330 |
| 23 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.32522692 |
| 24 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.31640342 |
| 25 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.29159852 |
| 26 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.25290677 |
| 27 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.24781401 |
| 28 | Phagosome_Homo sapiens_hsa04145 | 1.23616710 |
| 29 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 1.23297258 |
| 30 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.21839306 |
| 31 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.21321201 |
| 32 | Basal transcription factors_Homo sapiens_hsa03022 | 1.18432776 |
| 33 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.18022740 |
| 34 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 1.16546461 |
| 35 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 1.12672811 |
| 36 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.11372278 |
| 37 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.11147866 |
| 38 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.10594743 |
| 39 | Purine metabolism_Homo sapiens_hsa00230 | 1.06810579 |
| 40 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.05996120 |
| 41 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.03367675 |
| 42 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.02325055 |
| 43 | Apoptosis_Homo sapiens_hsa04210 | 0.97811709 |
| 44 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.96347540 |
| 45 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.95908331 |
| 46 | Asthma_Homo sapiens_hsa05310 | 0.93611744 |
| 47 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.92549598 |
| 48 | Circadian entrainment_Homo sapiens_hsa04713 | 0.91350973 |
| 49 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.91205085 |
| 50 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.91006703 |
| 51 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.90976346 |
| 52 | Peroxisome_Homo sapiens_hsa04146 | 0.89561726 |
| 53 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.89148564 |
| 54 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.88340822 |
| 55 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.88083764 |
| 56 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.86184300 |
| 57 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.85320149 |
| 58 | Renin secretion_Homo sapiens_hsa04924 | 0.83218436 |
| 59 | Salivary secretion_Homo sapiens_hsa04970 | 0.81743786 |
| 60 | Circadian rhythm_Homo sapiens_hsa04710 | 0.80278867 |
| 61 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.78872803 |
| 62 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.78638775 |
| 63 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.78208394 |
| 64 | ABC transporters_Homo sapiens_hsa02010 | 0.74297631 |
| 65 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.72007500 |
| 66 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.71877130 |
| 67 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.70966797 |
| 68 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.70167685 |
| 69 | Retinol metabolism_Homo sapiens_hsa00830 | 0.66410903 |
| 70 | RNA degradation_Homo sapiens_hsa03018 | 0.64995886 |
| 71 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.63897228 |
| 72 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.59873120 |
| 73 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.59585634 |
| 74 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.59263554 |
| 75 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.59151131 |
| 76 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.58921655 |
| 77 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.58887438 |
| 78 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.56113671 |
| 79 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.54602143 |
| 80 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.53777976 |
| 81 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.53495661 |
| 82 | Nicotine addiction_Homo sapiens_hsa05033 | 0.51823540 |
| 83 | Morphine addiction_Homo sapiens_hsa05032 | 0.48919787 |
| 84 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.48417216 |
| 85 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.45762053 |
| 86 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.44917312 |
| 87 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.43383687 |
| 88 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.41157929 |
| 89 | Platelet activation_Homo sapiens_hsa04611 | 0.41123617 |
| 90 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.39835279 |
| 91 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.37184861 |
| 92 | RNA transport_Homo sapiens_hsa03013 | 0.36178561 |
| 93 | Metabolic pathways_Homo sapiens_hsa01100 | 0.33413065 |
| 94 | Homologous recombination_Homo sapiens_hsa03440 | 0.31890490 |
| 95 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.30781686 |
| 96 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.30127016 |
| 97 | Viral myocarditis_Homo sapiens_hsa05416 | 0.29380896 |
| 98 | Parkinsons disease_Homo sapiens_hsa05012 | 0.27542225 |
| 99 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.26227246 |
| 100 | GABAergic synapse_Homo sapiens_hsa04727 | 0.26082500 |

