

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | acrosome reaction (GO:0007340) | 6.20943463 |
| 2 | sperm motility (GO:0030317) | 6.10410072 |
| 3 | single strand break repair (GO:0000012) | 5.49414071 |
| 4 | rRNA methylation (GO:0031167) | 5.04963527 |
| 5 | response to pheromone (GO:0019236) | 4.98655804 |
| 6 | protein polyglutamylation (GO:0018095) | 4.83596084 |
| 7 | protein targeting to Golgi (GO:0000042) | 4.75233443 |
| 8 | rRNA modification (GO:0000154) | 4.74510513 |
| 9 | establishment of protein localization to Golgi (GO:0072600) | 4.66893086 |
| 10 | centriole replication (GO:0007099) | 4.65461912 |
| 11 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 4.55456781 |
| 12 | microtubule depolymerization (GO:0007019) | 4.38724665 |
| 13 | spermatid development (GO:0007286) | 4.33629849 |
| 14 | DNA packaging (GO:0006323) | 4.18848508 |
| 15 | chromosome condensation (GO:0030261) | 4.18467899 |
| 16 | epithelial cilium movement (GO:0003351) | 4.04034387 |
| 17 | fusion of sperm to egg plasma membrane (GO:0007342) | 3.98348525 |
| 18 | sperm capacitation (GO:0048240) | 3.95989669 |
| 19 | establishment of protein localization to mitochondrial membrane (GO:0090151) | 3.94920730 |
| 20 | multicellular organism reproduction (GO:0032504) | 3.91612440 |
| 21 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.88429218 |
| 22 | protein localization to Golgi apparatus (GO:0034067) | 3.83297802 |
| 23 | microtubule severing (GO:0051013) | 3.80282990 |
| 24 | spermatid nucleus differentiation (GO:0007289) | 3.79861430 |
| 25 | behavioral response to nicotine (GO:0035095) | 3.79090639 |
| 26 | calcium ion-dependent exocytosis (GO:0017156) | 3.76164272 |
| 27 | regulation of cilium movement (GO:0003352) | 3.72108881 |
| 28 | sperm-egg recognition (GO:0035036) | 3.68167176 |
| 29 | regulation of centriole replication (GO:0046599) | 3.51698894 |
| 30 | centriole assembly (GO:0098534) | 3.46631869 |
| 31 | microtubule polymerization or depolymerization (GO:0031109) | 3.42299879 |
| 32 | cilium movement (GO:0003341) | 3.35264930 |
| 33 | axonemal dynein complex assembly (GO:0070286) | 3.30390174 |
| 34 | RNA destabilization (GO:0050779) | 3.24579840 |
| 35 | cellular ketone body metabolic process (GO:0046950) | 3.18912164 |
| 36 | binding of sperm to zona pellucida (GO:0007339) | 3.17827957 |
| 37 | male gamete generation (GO:0048232) | 3.17819039 |
| 38 | spermatogenesis (GO:0007283) | 3.17530674 |
| 39 | plasma membrane fusion (GO:0045026) | 3.17255659 |
| 40 | regulation of DNA endoreduplication (GO:0032875) | 3.06885623 |
| 41 | seminiferous tubule development (GO:0072520) | 3.03612427 |
| 42 | intraciliary transport (GO:0042073) | 3.01595966 |
| 43 | reproduction (GO:0000003) | 3.00237307 |
| 44 | gamete generation (GO:0007276) | 2.99205159 |
| 45 | cell-cell recognition (GO:0009988) | 2.94155471 |
| 46 | protein complex biogenesis (GO:0070271) | 2.88411133 |
| 47 | histone exchange (GO:0043486) | 2.84931364 |
| 48 | ketone body metabolic process (GO:1902224) | 2.82562238 |
| 49 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 2.80580933 |
| 50 | NADH dehydrogenase complex assembly (GO:0010257) | 2.80580933 |
| 51 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 2.80580933 |
| 52 | chromatin silencing (GO:0006342) | 2.78182767 |
| 53 | replication fork processing (GO:0031297) | 2.77334639 |
| 54 | cell proliferation in forebrain (GO:0021846) | 2.76430629 |
| 55 | mechanosensory behavior (GO:0007638) | 2.74740429 |
| 56 | retina layer formation (GO:0010842) | 2.71879004 |
| 57 | mitochondrial respiratory chain complex assembly (GO:0033108) | 2.71481649 |
| 58 | male meiosis I (GO:0007141) | 2.66665619 |
| 59 | auditory behavior (GO:0031223) | 2.63194401 |
| 60 | spinal cord motor neuron differentiation (GO:0021522) | 2.60005596 |
| 61 | regulation of meiosis I (GO:0060631) | 2.59448029 |
| 62 | single fertilization (GO:0007338) | 2.56238254 |
| 63 | cilium organization (GO:0044782) | 2.54242252 |
| 64 | neurofilament cytoskeleton organization (GO:0060052) | 2.50798446 |
| 65 | germ cell development (GO:0007281) | 2.50271587 |
| 66 | cilium assembly (GO:0042384) | 2.50012606 |
| 67 | forebrain neuron differentiation (GO:0021879) | 2.49521770 |
| 68 | nonmotile primary cilium assembly (GO:0035058) | 2.49089479 |
| 69 | regulation of telomere maintenance (GO:0032204) | 2.46467654 |
| 70 | chaperone-mediated protein transport (GO:0072321) | 2.45962124 |
| 71 | urogenital system development (GO:0001655) | 2.45613382 |
| 72 | limb development (GO:0060173) | 2.41421662 |
| 73 | appendage development (GO:0048736) | 2.41421662 |
| 74 | regulation of hexokinase activity (GO:1903299) | 2.41051736 |
| 75 | regulation of glucokinase activity (GO:0033131) | 2.41051736 |
| 76 | regulation of transcription involved in cell fate commitment (GO:0060850) | 2.39439393 |
| 77 | ventricular system development (GO:0021591) | 2.39138470 |
| 78 | multicellular organismal movement (GO:0050879) | 2.38577686 |
| 79 | musculoskeletal movement (GO:0050881) | 2.38577686 |
| 80 | otic vesicle formation (GO:0030916) | 2.37859197 |
| 81 | protein neddylation (GO:0045116) | 2.37617835 |
| 82 | regulation of microtubule-based movement (GO:0060632) | 2.36221761 |
| 83 | negative regulation of transcription regulatory region DNA binding (GO:2000678) | 2.36180126 |
| 84 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 2.34778841 |
| 85 | positive regulation of potassium ion transmembrane transport (GO:1901381) | 2.33207220 |
| 86 | negative regulation of inclusion body assembly (GO:0090084) | 2.33026334 |
| 87 | multicellular organismal reproductive process (GO:0048609) | 2.32091276 |
| 88 | negative regulation of DNA-dependent DNA replication (GO:2000104) | 2.30915618 |
| 89 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 2.29498326 |
| 90 | cilium or flagellum-dependent cell motility (GO:0001539) | 2.28570139 |
| 91 | phosphatidylethanolamine metabolic process (GO:0046337) | 2.27202623 |
| 92 | maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005) | 2.25675839 |
| 93 | response to auditory stimulus (GO:0010996) | 2.25065843 |
| 94 | axoneme assembly (GO:0035082) | 2.24108278 |
| 95 | pattern specification involved in kidney development (GO:0061004) | 2.24004335 |
| 96 | postsynaptic membrane organization (GO:0001941) | 2.23358722 |
| 97 | somite development (GO:0061053) | 2.23175245 |
| 98 | DNA methylation involved in gamete generation (GO:0043046) | 2.22289890 |
| 99 | nephron epithelium morphogenesis (GO:0072088) | 2.21960102 |
| 100 | nephron tubule morphogenesis (GO:0072078) | 2.21960102 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 5.15155825 |
| 2 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 4.21837957 |
| 3 | VDR_22108803_ChIP-Seq_LS180_Human | 2.48067308 |
| 4 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 2.42823468 |
| 5 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.42418176 |
| 6 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.40147681 |
| 7 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.38508191 |
| 8 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.36815758 |
| 9 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.35791503 |
| 10 | FUS_26573619_Chip-Seq_HEK293_Human | 2.35275341 |
| 11 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 2.34767069 |
| 12 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.34298435 |
| 13 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.24849005 |
| 14 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 2.13148982 |
| 15 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.09434966 |
| 16 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.02489690 |
| 17 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.02489690 |
| 18 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.86234083 |
| 19 | P300_19829295_ChIP-Seq_ESCs_Human | 1.83029625 |
| 20 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.78744076 |
| 21 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.73759902 |
| 22 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.73759902 |
| 23 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.72135222 |
| 24 | EWS_26573619_Chip-Seq_HEK293_Human | 1.63658891 |
| 25 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.62965850 |
| 26 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.55726526 |
| 27 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.54268311 |
| 28 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.53778778 |
| 29 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.53242126 |
| 30 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.53104242 |
| 31 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.52162133 |
| 32 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.46505269 |
| 33 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.46386768 |
| 34 | AR_25329375_ChIP-Seq_VCAP_Human | 1.45614383 |
| 35 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.44530117 |
| 36 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.42131375 |
| 37 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.40683088 |
| 38 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.38440783 |
| 39 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.37830937 |
| 40 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.37791950 |
| 41 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.37124776 |
| 42 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.36730101 |
| 43 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 1.34688821 |
| 44 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.33830922 |
| 45 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.33573129 |
| 46 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 1.33090488 |
| 47 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.32458245 |
| 48 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.32145659 |
| 49 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.26575262 |
| 50 | STAT3_23295773_ChIP-Seq_U87_Human | 1.25408916 |
| 51 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.25382916 |
| 52 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 1.25217244 |
| 53 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.24189950 |
| 54 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.23813422 |
| 55 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.20450961 |
| 56 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.20354868 |
| 57 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.20288100 |
| 58 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 1.20138188 |
| 59 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.19206007 |
| 60 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.18512174 |
| 61 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.17130515 |
| 62 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.16668004 |
| 63 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.13987880 |
| 64 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.12175913 |
| 65 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.12165643 |
| 66 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.12095912 |
| 67 | NFYB_21822215_ChIP-Seq_K562_Human | 1.11770278 |
| 68 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.10612529 |
| 69 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.10129126 |
| 70 | TBL1_22424771_ChIP-Seq_293T_Human | 1.08975313 |
| 71 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.08910207 |
| 72 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.08149701 |
| 73 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.08148112 |
| 74 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.07675858 |
| 75 | ERA_21632823_ChIP-Seq_H3396_Human | 1.07616227 |
| 76 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.07607825 |
| 77 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.07104048 |
| 78 | TCF4_23295773_ChIP-Seq_U87_Human | 1.06967942 |
| 79 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.05931699 |
| 80 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.05738973 |
| 81 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.05738973 |
| 82 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.05735460 |
| 83 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.04998470 |
| 84 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 1.03294468 |
| 85 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.02805880 |
| 86 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.02036131 |
| 87 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.01057155 |
| 88 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.00862684 |
| 89 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.00834982 |
| 90 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.00821747 |
| 91 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.00622680 |
| 92 | NFYA_21822215_ChIP-Seq_K562_Human | 1.00152421 |
| 93 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.97240661 |
| 94 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.96115033 |
| 95 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 0.95983280 |
| 96 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 0.95280099 |
| 97 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 0.94990830 |
| 98 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 0.94052257 |
| 99 | MYC_19829295_ChIP-Seq_ESCs_Human | 0.93476469 |
| 100 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 0.92646780 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 4.08374108 |
| 2 | MP0006292_abnormal_olfactory_placode | 4.04717928 |
| 3 | MP0002837_dystrophic_cardiac_calcinosis | 3.47123138 |
| 4 | MP0000569_abnormal_digit_pigmentation | 2.52832128 |
| 5 | MP0001485_abnormal_pinna_reflex | 2.43124130 |
| 6 | MP0005377_hearing/vestibular/ear_phenot | 2.39925988 |
| 7 | MP0003878_abnormal_ear_physiology | 2.39925988 |
| 8 | MP0003646_muscle_fatigue | 2.23510771 |
| 9 | MP0008877_abnormal_DNA_methylation | 2.14637839 |
| 10 | MP0004215_abnormal_myocardial_fiber | 2.06922104 |
| 11 | MP0003698_abnormal_male_reproductive | 2.00435735 |
| 12 | MP0001929_abnormal_gametogenesis | 1.88916412 |
| 13 | MP0003787_abnormal_imprinting | 1.75089260 |
| 14 | MP0006072_abnormal_retinal_apoptosis | 1.74413926 |
| 15 | MP0002938_white_spotting | 1.72297315 |
| 16 | MP0005670_abnormal_white_adipose | 1.69493798 |
| 17 | MP0003136_yellow_coat_color | 1.65076321 |
| 18 | MP0005551_abnormal_eye_electrophysiolog | 1.64464972 |
| 19 | MP0002234_abnormal_pharynx_morphology | 1.61498198 |
| 20 | MP0000778_abnormal_nervous_system | 1.59293015 |
| 21 | MP0004084_abnormal_cardiac_muscle | 1.57720715 |
| 22 | MP0000631_abnormal_neuroendocrine_gland | 1.54916525 |
| 23 | MP0006276_abnormal_autonomic_nervous | 1.54867746 |
| 24 | MP0003011_delayed_dark_adaptation | 1.54431909 |
| 25 | MP0002272_abnormal_nervous_system | 1.54085347 |
| 26 | MP0003880_abnormal_central_pattern | 1.53848996 |
| 27 | MP0003121_genomic_imprinting | 1.52449182 |
| 28 | MP0001293_anophthalmia | 1.50113917 |
| 29 | MP0008995_early_reproductive_senescence | 1.49689101 |
| 30 | MP0005253_abnormal_eye_physiology | 1.48333674 |
| 31 | MP0005645_abnormal_hypothalamus_physiol | 1.46090102 |
| 32 | MP0009379_abnormal_foot_pigmentation | 1.42521798 |
| 33 | MP0009046_muscle_twitch | 1.41350914 |
| 34 | MP0003718_maternal_effect | 1.38420676 |
| 35 | MP0001486_abnormal_startle_reflex | 1.37278001 |
| 36 | MP0001968_abnormal_touch/_nociception | 1.37202102 |
| 37 | MP0005379_endocrine/exocrine_gland_phen | 1.36573480 |
| 38 | MP0000372_irregular_coat_pigmentation | 1.36387164 |
| 39 | MP0002210_abnormal_sex_determination | 1.35460049 |
| 40 | MP0001905_abnormal_dopamine_level | 1.34626121 |
| 41 | MP0003137_abnormal_impulse_conducting | 1.34593548 |
| 42 | MP0002557_abnormal_social/conspecific_i | 1.31278234 |
| 43 | MP0008057_abnormal_DNA_replication | 1.31265523 |
| 44 | MP0004742_abnormal_vestibular_system | 1.30722793 |
| 45 | MP0005423_abnormal_somatic_nervous | 1.29871485 |
| 46 | MP0002736_abnormal_nociception_after | 1.28931685 |
| 47 | MP0008058_abnormal_DNA_repair | 1.27342739 |
| 48 | MP0005174_abnormal_tail_pigmentation | 1.26017894 |
| 49 | MP0000049_abnormal_middle_ear | 1.24483793 |
| 50 | MP0002638_abnormal_pupillary_reflex | 1.20169834 |
| 51 | MP0000015_abnormal_ear_pigmentation | 1.20076860 |
| 52 | MP0009745_abnormal_behavioral_response | 1.19173871 |
| 53 | MP0002095_abnormal_skin_pigmentation | 1.15096394 |
| 54 | MP0002735_abnormal_chemical_nociception | 1.13879726 |
| 55 | MP0000955_abnormal_spinal_cord | 1.10742673 |
| 56 | MP0004133_heterotaxia | 1.10547564 |
| 57 | MP0000026_abnormal_inner_ear | 1.09796506 |
| 58 | MP0003283_abnormal_digestive_organ | 1.09697312 |
| 59 | MP0002127_abnormal_cardiovascular_syste | 1.08509035 |
| 60 | MP0008789_abnormal_olfactory_epithelium | 1.06938128 |
| 61 | MP0002161_abnormal_fertility/fecundity | 1.05776787 |
| 62 | MP0004142_abnormal_muscle_tone | 1.05151645 |
| 63 | MP0002067_abnormal_sensory_capabilities | 1.03700530 |
| 64 | MP0004085_abnormal_heartbeat | 1.02763440 |
| 65 | MP0003123_paternal_imprinting | 1.01843273 |
| 66 | MP0002163_abnormal_gland_morphology | 1.01756503 |
| 67 | MP0004145_abnormal_muscle_electrophysio | 1.01217242 |
| 68 | MP0002102_abnormal_ear_morphology | 1.00802799 |
| 69 | MP0008775_abnormal_heart_ventricle | 1.00438970 |
| 70 | MP0000653_abnormal_sex_gland | 1.00022385 |
| 71 | MP0001145_abnormal_male_reproductive | 0.99959024 |
| 72 | MP0001963_abnormal_hearing_physiology | 0.98040570 |
| 73 | MP0002160_abnormal_reproductive_system | 0.97617019 |
| 74 | MP0001529_abnormal_vocalization | 0.96940209 |
| 75 | MP0003635_abnormal_synaptic_transmissio | 0.96104039 |
| 76 | MP0002752_abnormal_somatic_nervous | 0.95342546 |
| 77 | MP0001984_abnormal_olfaction | 0.95336726 |
| 78 | MP0002572_abnormal_emotion/affect_behav | 0.94644990 |
| 79 | MP0002184_abnormal_innervation | 0.91680850 |
| 80 | MP0005391_vision/eye_phenotype | 0.90722293 |
| 81 | MP0002734_abnormal_mechanical_nocicepti | 0.90014917 |
| 82 | MP0000566_synostosis | 0.89469420 |
| 83 | MP0004859_abnormal_synaptic_plasticity | 0.88022156 |
| 84 | MP0005195_abnormal_posterior_eye | 0.87990118 |
| 85 | MP0001188_hyperpigmentation | 0.87904859 |
| 86 | MP0004885_abnormal_endolymph | 0.86454772 |
| 87 | MP0002882_abnormal_neuron_morphology | 0.86039250 |
| 88 | MP0002928_abnormal_bile_duct | 0.86022474 |
| 89 | MP0005394_taste/olfaction_phenotype | 0.83866994 |
| 90 | MP0005499_abnormal_olfactory_system | 0.83866994 |
| 91 | MP0010094_abnormal_chromosome_stability | 0.83758839 |
| 92 | MP0002733_abnormal_thermal_nociception | 0.82127528 |
| 93 | MP0003195_calcinosis | 0.81273687 |
| 94 | MP0005408_hypopigmentation | 0.78302434 |
| 95 | MP0005646_abnormal_pituitary_gland | 0.77933693 |
| 96 | MP0003861_abnormal_nervous_system | 0.77611354 |
| 97 | MP0001324_abnormal_eye_pigmentation | 0.77371047 |
| 98 | MP0003937_abnormal_limbs/digits/tail_de | 0.77142944 |
| 99 | MP0003693_abnormal_embryo_hatching | 0.76767935 |
| 100 | MP0002064_seizures | 0.75667983 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 4.07953609 |
| 2 | Pancreatic cysts (HP:0001737) | 3.31318218 |
| 3 | Abnormality of midbrain morphology (HP:0002418) | 3.30627651 |
| 4 | Molar tooth sign on MRI (HP:0002419) | 3.30627651 |
| 5 | Chronic hepatic failure (HP:0100626) | 3.28041328 |
| 6 | Pancreatic fibrosis (HP:0100732) | 3.27617416 |
| 7 | Nephronophthisis (HP:0000090) | 3.24002474 |
| 8 | Renal Fanconi syndrome (HP:0001994) | 3.13412387 |
| 9 | Acute necrotizing encephalopathy (HP:0006965) | 3.04648041 |
| 10 | Septo-optic dysplasia (HP:0100842) | 2.87401038 |
| 11 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.86760371 |
| 12 | Tubulointerstitial nephritis (HP:0001970) | 2.83492756 |
| 13 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.81994466 |
| 14 | Attenuation of retinal blood vessels (HP:0007843) | 2.75028543 |
| 15 | Abnormality of renal resorption (HP:0011038) | 2.74655787 |
| 16 | Abnormality of the renal medulla (HP:0100957) | 2.73992080 |
| 17 | Absent/shortened dynein arms (HP:0200106) | 2.68228779 |
| 18 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 2.68228779 |
| 19 | Hypoplastic ischia (HP:0003175) | 2.67644733 |
| 20 | True hermaphroditism (HP:0010459) | 2.66450359 |
| 21 | Optic nerve hypoplasia (HP:0000609) | 2.65516067 |
| 22 | Increased hepatocellular lipid droplets (HP:0006565) | 2.61879355 |
| 23 | Abnormal ciliary motility (HP:0012262) | 2.54960396 |
| 24 | Progressive macrocephaly (HP:0004481) | 2.54783879 |
| 25 | Volvulus (HP:0002580) | 2.53470918 |
| 26 | Acute encephalopathy (HP:0006846) | 2.52311042 |
| 27 | Abnormal mitochondria in muscle tissue (HP:0008316) | 2.48579514 |
| 28 | Congenital stationary night blindness (HP:0007642) | 2.47752756 |
| 29 | Sclerocornea (HP:0000647) | 2.44852025 |
| 30 | Lipid accumulation in hepatocytes (HP:0006561) | 2.43620182 |
| 31 | Abnormal number of incisors (HP:0011064) | 2.43025805 |
| 32 | Pendular nystagmus (HP:0012043) | 2.41474004 |
| 33 | Mitochondrial inheritance (HP:0001427) | 2.40708259 |
| 34 | Abnormality of the renal cortex (HP:0011035) | 2.36876141 |
| 35 | Anencephaly (HP:0002323) | 2.33937971 |
| 36 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.33803663 |
| 37 | Increased CSF lactate (HP:0002490) | 2.31608399 |
| 38 | Abnormality of macular pigmentation (HP:0008002) | 2.28529609 |
| 39 | Type II lissencephaly (HP:0007260) | 2.24248528 |
| 40 | Abnormality of the ischium (HP:0003174) | 2.21022884 |
| 41 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.20865807 |
| 42 | Oligodactyly (hands) (HP:0001180) | 2.19929368 |
| 43 | Growth hormone deficiency (HP:0000824) | 2.17486991 |
| 44 | Glycosuria (HP:0003076) | 2.17118606 |
| 45 | Abnormality of urine glucose concentration (HP:0011016) | 2.17118606 |
| 46 | Abnormality of the labia minora (HP:0012880) | 2.13706074 |
| 47 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.10009618 |
| 48 | Cystic liver disease (HP:0006706) | 2.08660918 |
| 49 | Medial flaring of the eyebrow (HP:0010747) | 2.07103418 |
| 50 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.02369406 |
| 51 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.02369406 |
| 52 | Generalized aminoaciduria (HP:0002909) | 2.01236669 |
| 53 | Congenital malformation of the right heart (HP:0011723) | 1.99113914 |
| 54 | Double outlet right ventricle (HP:0001719) | 1.99113914 |
| 55 | Esophageal atresia (HP:0002032) | 1.96088177 |
| 56 | Impulsivity (HP:0100710) | 1.94644822 |
| 57 | Postaxial foot polydactyly (HP:0001830) | 1.93742912 |
| 58 | Polyuria (HP:0000103) | 1.91257589 |
| 59 | Aplasia/Hypoplasia of the tibia (HP:0005772) | 1.90546522 |
| 60 | Polydipsia (HP:0001959) | 1.88963277 |
| 61 | Abnormal drinking behavior (HP:0030082) | 1.88963277 |
| 62 | Abnormality of the aortic arch (HP:0012303) | 1.88145577 |
| 63 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.88036468 |
| 64 | Optic disc pallor (HP:0000543) | 1.87955176 |
| 65 | Pachygyria (HP:0001302) | 1.87942332 |
| 66 | Intellectual disability, moderate (HP:0002342) | 1.87529833 |
| 67 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.86970547 |
| 68 | Cerebellar dysplasia (HP:0007033) | 1.86307131 |
| 69 | Absent septum pellucidum (HP:0001331) | 1.85732099 |
| 70 | Renal cortical cysts (HP:0000803) | 1.85446979 |
| 71 | Preaxial hand polydactyly (HP:0001177) | 1.85150382 |
| 72 | Exertional dyspnea (HP:0002875) | 1.83760301 |
| 73 | Anophthalmia (HP:0000528) | 1.82930388 |
| 74 | Cerebral edema (HP:0002181) | 1.81533107 |
| 75 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 1.80626250 |
| 76 | Progressive cerebellar ataxia (HP:0002073) | 1.79848199 |
| 77 | Hepatic necrosis (HP:0002605) | 1.79262646 |
| 78 | Short tibia (HP:0005736) | 1.79053434 |
| 79 | Median cleft lip (HP:0000161) | 1.78443648 |
| 80 | Rib fusion (HP:0000902) | 1.75567022 |
| 81 | Tubular atrophy (HP:0000092) | 1.74314374 |
| 82 | Truncal obesity (HP:0001956) | 1.73995789 |
| 83 | Gastrointestinal atresia (HP:0002589) | 1.73328863 |
| 84 | Gait imbalance (HP:0002141) | 1.72367473 |
| 85 | Congenital sensorineural hearing impairment (HP:0008527) | 1.71965929 |
| 86 | Decreased central vision (HP:0007663) | 1.70083698 |
| 87 | Abnormal urine output (HP:0012590) | 1.68064761 |
| 88 | Occipital encephalocele (HP:0002085) | 1.68038928 |
| 89 | Congenital hepatic fibrosis (HP:0002612) | 1.67907822 |
| 90 | Sloping forehead (HP:0000340) | 1.67571385 |
| 91 | Adrenal hypoplasia (HP:0000835) | 1.67246622 |
| 92 | Hypoplasia of the fovea (HP:0007750) | 1.64327475 |
| 93 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 1.64327475 |
| 94 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.62856270 |
| 95 | Congenital primary aphakia (HP:0007707) | 1.62642521 |
| 96 | Poor coordination (HP:0002370) | 1.62310092 |
| 97 | Holoprosencephaly (HP:0001360) | 1.61395609 |
| 98 | Scotoma (HP:0000575) | 1.61263143 |
| 99 | Abnormality of the septum pellucidum (HP:0007375) | 1.59738277 |
| 100 | Prolonged QT interval (HP:0001657) | 1.59396156 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PNCK | 4.77189213 |
| 2 | PLK4 | 3.84960419 |
| 3 | CAMK1G | 2.77462372 |
| 4 | INSRR | 2.49183055 |
| 5 | CASK | 2.37152749 |
| 6 | MAP4K2 | 2.32975829 |
| 7 | CDC7 | 2.21417508 |
| 8 | PINK1 | 1.95088232 |
| 9 | FRK | 1.89673146 |
| 10 | BMPR1B | 1.85712828 |
| 11 | NUAK1 | 1.82544189 |
| 12 | TNIK | 1.82085782 |
| 13 | MARK1 | 1.78936633 |
| 14 | MAP3K4 | 1.78136680 |
| 15 | WNK3 | 1.62536544 |
| 16 | BRD4 | 1.60357099 |
| 17 | TLK1 | 1.59896874 |
| 18 | STK16 | 1.58406777 |
| 19 | MAPK15 | 1.57851201 |
| 20 | MAP2K7 | 1.53134162 |
| 21 | VRK1 | 1.52317961 |
| 22 | GRK1 | 1.52066147 |
| 23 | ZAK | 1.49172733 |
| 24 | PLK2 | 1.46337601 |
| 25 | CAMK1D | 1.43434696 |
| 26 | MKNK2 | 1.43391763 |
| 27 | STK39 | 1.40724458 |
| 28 | DYRK2 | 1.31500199 |
| 29 | ADRBK2 | 1.29757047 |
| 30 | WNK4 | 1.23259777 |
| 31 | EPHA4 | 1.14249525 |
| 32 | STK38L | 1.12975626 |
| 33 | DMPK | 1.08354144 |
| 34 | TIE1 | 1.07216092 |
| 35 | PAK3 | 1.06911817 |
| 36 | OXSR1 | 1.03544852 |
| 37 | NEK2 | 1.01516407 |
| 38 | DDR2 | 1.00116671 |
| 39 | PRKCG | 0.95605531 |
| 40 | TSSK6 | 0.93347662 |
| 41 | TRIM28 | 0.87564891 |
| 42 | DYRK3 | 0.87498233 |
| 43 | CDK3 | 0.86609945 |
| 44 | MST4 | 0.86529206 |
| 45 | TAF1 | 0.85253758 |
| 46 | SGK2 | 0.84618699 |
| 47 | AURKA | 0.84480082 |
| 48 | MAP3K9 | 0.82597120 |
| 49 | UHMK1 | 0.80742863 |
| 50 | PLK1 | 0.80605547 |
| 51 | PRKG1 | 0.80057860 |
| 52 | DAPK3 | 0.77878974 |
| 53 | SGK494 | 0.77321355 |
| 54 | SGK223 | 0.77321355 |
| 55 | BRSK2 | 0.75733807 |
| 56 | MARK3 | 0.73603535 |
| 57 | AKT3 | 0.68929184 |
| 58 | MAPK13 | 0.68621010 |
| 59 | CHEK1 | 0.66938923 |
| 60 | NEK1 | 0.66763346 |
| 61 | PRKCE | 0.65752114 |
| 62 | CHEK2 | 0.65593156 |
| 63 | PLK3 | 0.64687355 |
| 64 | ATM | 0.64186386 |
| 65 | SRPK1 | 0.64106288 |
| 66 | WNK1 | 0.64009773 |
| 67 | ROCK1 | 0.63747836 |
| 68 | ATR | 0.63490904 |
| 69 | MUSK | 0.63230733 |
| 70 | BCKDK | 0.62992515 |
| 71 | WEE1 | 0.62392379 |
| 72 | NTRK2 | 0.61516626 |
| 73 | PRKCI | 0.60908352 |
| 74 | CAMK1 | 0.59854484 |
| 75 | CSNK1E | 0.59620762 |
| 76 | NME1 | 0.59236839 |
| 77 | SIK2 | 0.57338500 |
| 78 | PKN1 | 0.57301455 |
| 79 | CDK2 | 0.56459336 |
| 80 | MINK1 | 0.55018886 |
| 81 | AURKB | 0.53727232 |
| 82 | RPS6KA5 | 0.53050377 |
| 83 | ABL2 | 0.51399492 |
| 84 | PTK2B | 0.51136075 |
| 85 | CDK1 | 0.50801079 |
| 86 | PRKACA | 0.50679971 |
| 87 | GSK3B | 0.48782446 |
| 88 | DYRK1B | 0.46726503 |
| 89 | MKNK1 | 0.46101755 |
| 90 | TAOK1 | 0.45945416 |
| 91 | CAMK2A | 0.45231785 |
| 92 | PRKACB | 0.44958682 |
| 93 | PRKCZ | 0.43101987 |
| 94 | MAP2K4 | 0.42701728 |
| 95 | CSNK2A2 | 0.42023749 |
| 96 | OBSCN | 0.41611810 |
| 97 | STK11 | 0.40880041 |
| 98 | CSNK1G1 | 0.40772698 |
| 99 | CCNB1 | 0.39865663 |
| 100 | SGK1 | 0.39378492 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.91572237 |
| 2 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 3.44961188 |
| 3 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 3.07778656 |
| 4 | Parkinsons disease_Homo sapiens_hsa05012 | 2.72712132 |
| 5 | Ribosome_Homo sapiens_hsa03010 | 2.34376871 |
| 6 | Huntingtons disease_Homo sapiens_hsa05016 | 2.33592391 |
| 7 | Nicotine addiction_Homo sapiens_hsa05033 | 2.29884115 |
| 8 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.28405665 |
| 9 | RNA polymerase_Homo sapiens_hsa03020 | 2.26389891 |
| 10 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.16021736 |
| 11 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.12255733 |
| 12 | Homologous recombination_Homo sapiens_hsa03440 | 2.01196868 |
| 13 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.86767201 |
| 14 | Phototransduction_Homo sapiens_hsa04744 | 1.83184479 |
| 15 | Basal transcription factors_Homo sapiens_hsa03022 | 1.83160155 |
| 16 | Protein export_Homo sapiens_hsa03060 | 1.82448797 |
| 17 | Alzheimers disease_Homo sapiens_hsa05010 | 1.71979511 |
| 18 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.64634660 |
| 19 | Olfactory transduction_Homo sapiens_hsa04740 | 1.59409893 |
| 20 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.55527272 |
| 21 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.55451685 |
| 22 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.53252006 |
| 23 | RNA transport_Homo sapiens_hsa03013 | 1.50335700 |
| 24 | RNA degradation_Homo sapiens_hsa03018 | 1.43726754 |
| 25 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.42603197 |
| 26 | Taste transduction_Homo sapiens_hsa04742 | 1.39321339 |
| 27 | Mismatch repair_Homo sapiens_hsa03430 | 1.38444448 |
| 28 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 1.38186118 |
| 29 | Spliceosome_Homo sapiens_hsa03040 | 1.35726353 |
| 30 | Insulin secretion_Homo sapiens_hsa04911 | 1.30797764 |
| 31 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.28797187 |
| 32 | Morphine addiction_Homo sapiens_hsa05032 | 1.24913921 |
| 33 | DNA replication_Homo sapiens_hsa03030 | 1.20366517 |
| 34 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.17656864 |
| 35 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.17411671 |
| 36 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.16864245 |
| 37 | Alcoholism_Homo sapiens_hsa05034 | 1.16536418 |
| 38 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.15585997 |
| 39 | Purine metabolism_Homo sapiens_hsa00230 | 1.11466308 |
| 40 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.10889554 |
| 41 | Folate biosynthesis_Homo sapiens_hsa00790 | 1.06706817 |
| 42 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.06368489 |
| 43 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 1.03940685 |
| 44 | Circadian entrainment_Homo sapiens_hsa04713 | 1.01027807 |
| 45 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 1.00770826 |
| 46 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.95688682 |
| 47 | Proteasome_Homo sapiens_hsa03050 | 0.95515980 |
| 48 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.94636669 |
| 49 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.93077434 |
| 50 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.90883235 |
| 51 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.88453650 |
| 52 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.88248857 |
| 53 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.85759345 |
| 54 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.83131722 |
| 55 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.82862172 |
| 56 | Base excision repair_Homo sapiens_hsa03410 | 0.81553763 |
| 57 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.79469246 |
| 58 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.78771167 |
| 59 | GABAergic synapse_Homo sapiens_hsa04727 | 0.78332315 |
| 60 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.77689519 |
| 61 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.77450866 |
| 62 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.75354899 |
| 63 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.72042014 |
| 64 | Cocaine addiction_Homo sapiens_hsa05030 | 0.70373507 |
| 65 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.66757599 |
| 66 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.65340976 |
| 67 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.64245214 |
| 68 | Salivary secretion_Homo sapiens_hsa04970 | 0.59793903 |
| 69 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.57679996 |
| 70 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.55162971 |
| 71 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.55138928 |
| 72 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.52923548 |
| 73 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.52856202 |
| 74 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.51678966 |
| 75 | Metabolic pathways_Homo sapiens_hsa01100 | 0.50878101 |
| 76 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.50374633 |
| 77 | Sulfur relay system_Homo sapiens_hsa04122 | 0.50090420 |
| 78 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.49551286 |
| 79 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.48648324 |
| 80 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.48046760 |
| 81 | Lysine degradation_Homo sapiens_hsa00310 | 0.47811542 |
| 82 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.47265124 |
| 83 | Circadian rhythm_Homo sapiens_hsa04710 | 0.46859931 |
| 84 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.46267676 |
| 85 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.43499262 |
| 86 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.43383371 |
| 87 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.43061499 |
| 88 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.40873025 |
| 89 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.40270074 |
| 90 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.40172032 |
| 91 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.39774729 |
| 92 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.38189509 |
| 93 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.37125167 |
| 94 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.36847596 |
| 95 | Peroxisome_Homo sapiens_hsa04146 | 0.36520560 |
| 96 | Cell cycle_Homo sapiens_hsa04110 | 0.36339797 |
| 97 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.35337532 |
| 98 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.34983848 |
| 99 | Retinol metabolism_Homo sapiens_hsa00830 | 0.34333111 |
| 100 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.33954666 |

