

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.22165534 |
| 2 | sperm capacitation (GO:0048240) | 8.49204855 |
| 3 | microtubule depolymerization (GO:0007019) | 8.22463644 |
| 4 | DNA packaging (GO:0006323) | 8.10974028 |
| 5 | chromosome condensation (GO:0030261) | 8.09482023 |
| 6 | spermatid development (GO:0007286) | 7.93971924 |
| 7 | axonemal dynein complex assembly (GO:0070286) | 7.90672783 |
| 8 | spermatid nucleus differentiation (GO:0007289) | 7.45610367 |
| 9 | single strand break repair (GO:0000012) | 7.21800060 |
| 10 | microtubule polymerization or depolymerization (GO:0031109) | 7.10257486 |
| 11 | plasma membrane fusion (GO:0045026) | 7.08395356 |
| 12 | sperm-egg recognition (GO:0035036) | 6.97027082 |
| 13 | protein polyglutamylation (GO:0018095) | 6.94289247 |
| 14 | centriole replication (GO:0007099) | 6.83185114 |
| 15 | rRNA methylation (GO:0031167) | 6.64268146 |
| 16 | protein targeting to Golgi (GO:0000042) | 6.51695935 |
| 17 | multicellular organism reproduction (GO:0032504) | 6.48526342 |
| 18 | response to pheromone (GO:0019236) | 6.41552844 |
| 19 | binding of sperm to zona pellucida (GO:0007339) | 6.41540909 |
| 20 | establishment of protein localization to Golgi (GO:0072600) | 6.27068785 |
| 21 | epithelial cilium movement (GO:0003351) | 6.22098704 |
| 22 | cilium or flagellum-dependent cell motility (GO:0001539) | 6.17948860 |
| 23 | spermatogenesis (GO:0007283) | 6.09759306 |
| 24 | motile cilium assembly (GO:0044458) | 6.08832947 |
| 25 | regulation of cilium movement (GO:0003352) | 6.08810363 |
| 26 | male gamete generation (GO:0048232) | 6.08072477 |
| 27 | centriole assembly (GO:0098534) | 5.97410851 |
| 28 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.95093942 |
| 29 | reproduction (GO:0000003) | 5.90181034 |
| 30 | negative regulation of inclusion body assembly (GO:0090084) | 5.88366542 |
| 31 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.70294358 |
| 32 | rRNA modification (GO:0000154) | 5.65429337 |
| 33 | cell-cell recognition (GO:0009988) | 5.65095619 |
| 34 | gamete generation (GO:0007276) | 5.62142552 |
| 35 | calcium ion-dependent exocytosis (GO:0017156) | 5.50692741 |
| 36 | protein localization to Golgi apparatus (GO:0034067) | 5.46632388 |
| 37 | cilium movement (GO:0003341) | 5.37423754 |
| 38 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.30154791 |
| 39 | sexual reproduction (GO:0019953) | 5.19207382 |
| 40 | single fertilization (GO:0007338) | 4.97707963 |
| 41 | microtubule severing (GO:0051013) | 4.95181253 |
| 42 | seminiferous tubule development (GO:0072520) | 4.90150770 |
| 43 | regulation of centriole replication (GO:0046599) | 4.83771051 |
| 44 | male meiosis I (GO:0007141) | 4.80673920 |
| 45 | germ cell development (GO:0007281) | 4.61312862 |
| 46 | fertilization (GO:0009566) | 4.55419518 |
| 47 | piRNA metabolic process (GO:0034587) | 4.49791128 |
| 48 | multicellular organismal reproductive process (GO:0048609) | 4.47062302 |
| 49 | positive regulation of Rab GTPase activity (GO:0032851) | 4.42939488 |
| 50 | regulation of Rab GTPase activity (GO:0032313) | 4.42939488 |
| 51 | RNA destabilization (GO:0050779) | 4.35062988 |
| 52 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.34449312 |
| 53 | regulation of microtubule-based movement (GO:0060632) | 4.32233767 |
| 54 | microtubule nucleation (GO:0007020) | 4.20062427 |
| 55 | nucleus organization (GO:0006997) | 4.04634260 |
| 56 | regulation of inclusion body assembly (GO:0090083) | 4.00906465 |
| 57 | cell wall macromolecule catabolic process (GO:0016998) | 3.90861614 |
| 58 | cellular ketone body metabolic process (GO:0046950) | 3.88541551 |
| 59 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.82627661 |
| 60 | meiosis I (GO:0007127) | 3.81351240 |
| 61 | DNA methylation involved in gamete generation (GO:0043046) | 3.81285078 |
| 62 | multicellular organismal movement (GO:0050879) | 3.80182847 |
| 63 | musculoskeletal movement (GO:0050881) | 3.80182847 |
| 64 | chromatin silencing (GO:0006342) | 3.78726631 |
| 65 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.72238962 |
| 66 | cell wall macromolecule metabolic process (GO:0044036) | 3.69208005 |
| 67 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.66368776 |
| 68 | synapsis (GO:0007129) | 3.61921411 |
| 69 | cerebral cortex neuron differentiation (GO:0021895) | 3.61583699 |
| 70 | chromosome organization involved in meiosis (GO:0070192) | 3.59901672 |
| 71 | histone H3-K9 demethylation (GO:0033169) | 3.59519678 |
| 72 | synaptonemal complex assembly (GO:0007130) | 3.57705393 |
| 73 | male meiosis (GO:0007140) | 3.50778216 |
| 74 | ketone body metabolic process (GO:1902224) | 3.37156012 |
| 75 | axoneme assembly (GO:0035082) | 3.34701260 |
| 76 | polyamine biosynthetic process (GO:0006596) | 3.33621696 |
| 77 | ventricular system development (GO:0021591) | 3.33581144 |
| 78 | synaptonemal complex organization (GO:0070193) | 3.12687573 |
| 79 | meiotic nuclear division (GO:0007126) | 3.10590282 |
| 80 | meiotic cell cycle process (GO:1903046) | 3.10120050 |
| 81 | organic cation transport (GO:0015695) | 3.09987409 |
| 82 | multicellular organismal development (GO:0007275) | 3.03937296 |
| 83 | RNA localization (GO:0006403) | 3.02665707 |
| 84 | protein-DNA complex disassembly (GO:0032986) | 3.01069150 |
| 85 | nucleosome disassembly (GO:0006337) | 3.01069150 |
| 86 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.95374367 |
| 87 | DNA conformation change (GO:0071103) | 2.93291968 |
| 88 | protein depolymerization (GO:0051261) | 2.92158186 |
| 89 | cilium organization (GO:0044782) | 2.91650545 |
| 90 | glomerular visceral epithelial cell development (GO:0072015) | 2.90686456 |
| 91 | spinal cord motor neuron differentiation (GO:0021522) | 2.89821343 |
| 92 | regulation of meiosis I (GO:0060631) | 2.88313514 |
| 93 | cilium assembly (GO:0042384) | 2.87519147 |
| 94 | nuclear pore complex assembly (GO:0051292) | 2.86511383 |
| 95 | intraciliary transport (GO:0042073) | 2.82504985 |
| 96 | glomerular epithelial cell development (GO:0072310) | 2.80032626 |
| 97 | chaperone-mediated protein complex assembly (GO:0051131) | 2.78735255 |
| 98 | homeostasis of number of cells within a tissue (GO:0048873) | 2.77342936 |
| 99 | sperm motility (GO:0030317) | 11.2716394 |
| 100 | acrosome reaction (GO:0007340) | 10.3356875 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 5.61555524 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.81423480 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.49687159 |
| 4 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.45008347 |
| 5 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.45008347 |
| 6 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.36888187 |
| 7 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.17241620 |
| 8 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.14826861 |
| 9 | ERA_21632823_ChIP-Seq_H3396_Human | 2.14208379 |
| 10 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.07517082 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.06281232 |
| 12 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.06281232 |
| 13 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 2.03833187 |
| 14 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.97689724 |
| 15 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.96819671 |
| 16 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.95738249 |
| 17 | P68_20966046_ChIP-Seq_HELA_Human | 1.94336712 |
| 18 | FUS_26573619_Chip-Seq_HEK293_Human | 1.91185527 |
| 19 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.91028991 |
| 20 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.89753661 |
| 21 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.88687127 |
| 22 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.87443739 |
| 23 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.86934359 |
| 24 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.85803761 |
| 25 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.85075605 |
| 26 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.85054531 |
| 27 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.84891024 |
| 28 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.83660252 |
| 29 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.78998194 |
| 30 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.78928774 |
| 31 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.75133685 |
| 32 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.75022669 |
| 33 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.72030270 |
| 34 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.70686503 |
| 35 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.70226083 |
| 36 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.69563503 |
| 37 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.66884089 |
| 38 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.61163085 |
| 39 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.58958649 |
| 40 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.54976655 |
| 41 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.52719283 |
| 42 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.47443035 |
| 43 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.47205517 |
| 44 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.47158239 |
| 45 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.46240369 |
| 46 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.42113161 |
| 47 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.41861278 |
| 48 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.40484516 |
| 49 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.40352519 |
| 50 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.40326484 |
| 51 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.36020315 |
| 52 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.32508404 |
| 53 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.31202820 |
| 54 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.30595007 |
| 55 | AR_25329375_ChIP-Seq_VCAP_Human | 1.29896449 |
| 56 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.29064257 |
| 57 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.28791519 |
| 58 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.26310796 |
| 59 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.24597847 |
| 60 | P300_27268052_Chip-Seq_Bcells_Human | 1.24295935 |
| 61 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.21621348 |
| 62 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.21351203 |
| 63 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.20616378 |
| 64 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.20058547 |
| 65 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.17055807 |
| 66 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.17008665 |
| 67 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.15520755 |
| 68 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.14965223 |
| 69 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.14736036 |
| 70 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.13613738 |
| 71 | SA1_27219007_Chip-Seq_Bcells_Human | 1.13288393 |
| 72 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.12429193 |
| 73 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.12344357 |
| 74 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.11351439 |
| 75 | CTCF_21964334_Chip-Seq_Bcells_Human | 1.10695840 |
| 76 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.09144501 |
| 77 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 1.07700620 |
| 78 | MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human | 1.06351916 |
| 79 | NCOR_22424771_ChIP-Seq_293T_Human | 1.06218050 |
| 80 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.04731202 |
| 81 | NFYB_21822215_ChIP-Seq_K562_Human | 1.04177199 |
| 82 | OCT4_19829295_ChIP-Seq_ESCs_Human | 1.03328153 |
| 83 | P300_19829295_ChIP-Seq_ESCs_Human | 1.02379517 |
| 84 | FOXP1_21924763_ChIP-Seq_HESCs_Human | 1.00497719 |
| 85 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.00465392 |
| 86 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 0.99161765 |
| 87 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 0.98548125 |
| 88 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 0.98372142 |
| 89 | HOXB7_26014856_ChIP-Seq_BT474_Human | 0.97885233 |
| 90 | SOX2_21211035_ChIP-Seq_LN229_Human | 0.97723443 |
| 91 | TBL1_22424771_ChIP-Seq_293T_Human | 0.97180947 |
| 92 | AR_21572438_ChIP-Seq_LNCaP_Human | 0.97130603 |
| 93 | RARA_24833708_ChIP-Seq_LIVER_Mouse | 0.96826143 |
| 94 | KLF4_19829295_ChIP-Seq_ESCs_Human | 0.96784597 |
| 95 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 0.96379371 |
| 96 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 0.95546866 |
| 97 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 0.95546866 |
| 98 | PHF8_20622853_ChIP-Seq_HELA_Human | 0.95263713 |
| 99 | REST_21632747_ChIP-Seq_MESCs_Mouse | 0.94025199 |
| 100 | SPI1_20517297_ChIP-Seq_HL60_Human | 0.93313905 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005377_hearing/vestibular/ear_phenot | 4.38430329 |
| 2 | MP0003878_abnormal_ear_physiology | 4.38430329 |
| 3 | MP0003698_abnormal_male_reproductive | 4.34078765 |
| 4 | MP0001929_abnormal_gametogenesis | 3.94578948 |
| 5 | MP0005670_abnormal_white_adipose | 3.75217847 |
| 6 | MP0002822_catalepsy | 3.74522726 |
| 7 | MP0005423_abnormal_somatic_nervous | 3.71232674 |
| 8 | MP0001348_abnormal_lacrimal_gland | 2.88464673 |
| 9 | MP0002161_abnormal_fertility/fecundity | 2.46695885 |
| 10 | MP0003718_maternal_effect | 2.40707530 |
| 11 | MP0002210_abnormal_sex_determination | 2.38552001 |
| 12 | MP0000678_abnormal_parathyroid_gland | 2.23149368 |
| 13 | MP0005410_abnormal_fertilization | 10.4710636 |
| 14 | MP0001145_abnormal_male_reproductive | 1.82106457 |
| 15 | MP0002735_abnormal_chemical_nociception | 1.76543589 |
| 16 | MP0003646_muscle_fatigue | 1.75610695 |
| 17 | MP0000653_abnormal_sex_gland | 1.69505809 |
| 18 | MP0005451_abnormal_body_composition | 1.64550140 |
| 19 | MP0002282_abnormal_trachea_morphology | 1.59646308 |
| 20 | MP0001486_abnormal_startle_reflex | 1.58407135 |
| 21 | MP0008877_abnormal_DNA_methylation | 1.52288440 |
| 22 | MP0002249_abnormal_larynx_morphology | 1.47531572 |
| 23 | MP0001485_abnormal_pinna_reflex | 1.38761632 |
| 24 | MP0003136_yellow_coat_color | 1.36695363 |
| 25 | MP0001968_abnormal_touch/_nociception | 1.33411285 |
| 26 | MP0003879_abnormal_hair_cell | 1.33122698 |
| 27 | MP0004742_abnormal_vestibular_system | 1.30300112 |
| 28 | MP0009053_abnormal_anal_canal | 1.21704246 |
| 29 | MP0005171_absent_coat_pigmentation | 1.18986546 |
| 30 | MP0002132_abnormal_respiratory_system | 1.13710371 |
| 31 | MP0001188_hyperpigmentation | 1.10957436 |
| 32 | MP0003011_delayed_dark_adaptation | 1.10572508 |
| 33 | MP0003880_abnormal_central_pattern | 1.10307866 |
| 34 | MP0005551_abnormal_eye_electrophysiolog | 1.10259781 |
| 35 | MP0004859_abnormal_synaptic_plasticity | 1.06679617 |
| 36 | MP0001963_abnormal_hearing_physiology | 1.06402535 |
| 37 | MP0005253_abnormal_eye_physiology | 1.05688563 |
| 38 | MP0000566_synostosis | 1.05501133 |
| 39 | MP0005310_abnormal_salivary_gland | 1.05272044 |
| 40 | MP0002234_abnormal_pharynx_morphology | 1.04257020 |
| 41 | MP0000026_abnormal_inner_ear | 1.03189719 |
| 42 | MP0005666_abnormal_adipose_tissue | 1.01285293 |
| 43 | MP0005248_abnormal_Harderian_gland | 1.00096596 |
| 44 | MP0000534_abnormal_ureter_morphology | 0.99934386 |
| 45 | MP0001529_abnormal_vocalization | 0.97115816 |
| 46 | MP0003077_abnormal_cell_cycle | 0.96137466 |
| 47 | MP0001986_abnormal_taste_sensitivity | 0.95237561 |
| 48 | MP0002067_abnormal_sensory_capabilities | 0.92817729 |
| 49 | MP0000955_abnormal_spinal_cord | 0.92299421 |
| 50 | MP0005379_endocrine/exocrine_gland_phen | 0.92274361 |
| 51 | MP0001765_abnormal_ion_homeostasis | 0.89547365 |
| 52 | MP0005174_abnormal_tail_pigmentation | 0.87919615 |
| 53 | MP0008058_abnormal_DNA_repair | 0.86623249 |
| 54 | MP0005395_other_phenotype | 0.85054432 |
| 55 | MP0000015_abnormal_ear_pigmentation | 0.82789618 |
| 56 | MP0002557_abnormal_social/conspecific_i | 0.82419179 |
| 57 | MP0000049_abnormal_middle_ear | 0.81617537 |
| 58 | MP0002160_abnormal_reproductive_system | 0.80115789 |
| 59 | MP0001905_abnormal_dopamine_level | 0.79421583 |
| 60 | MP0003959_abnormal_lean_body | 0.78636966 |
| 61 | MP0002229_neurodegeneration | 0.77429901 |
| 62 | MP0009745_abnormal_behavioral_response | 0.75765713 |
| 63 | MP0005367_renal/urinary_system_phenotyp | 0.75262302 |
| 64 | MP0000516_abnormal_urinary_system | 0.75262302 |
| 65 | MP0008569_lethality_at_weaning | 0.75048620 |
| 66 | MP0009115_abnormal_fat_cell | 0.74182569 |
| 67 | MP0002272_abnormal_nervous_system | 0.73571210 |
| 68 | MP0002572_abnormal_emotion/affect_behav | 0.71990536 |
| 69 | MP0003693_abnormal_embryo_hatching | 0.69021141 |
| 70 | MP0001970_abnormal_pain_threshold | 0.68749640 |
| 71 | MP0002733_abnormal_thermal_nociception | 0.67906482 |
| 72 | MP0005375_adipose_tissue_phenotype | 0.66665345 |
| 73 | MP0003699_abnormal_female_reproductive | 0.66412554 |
| 74 | MP0008995_early_reproductive_senescence | 0.65159936 |
| 75 | MP0008789_abnormal_olfactory_epithelium | 0.62871825 |
| 76 | MP0009697_abnormal_copulation | 0.61074519 |
| 77 | MP0002928_abnormal_bile_duct | 0.60967074 |
| 78 | MP0000003_abnormal_adipose_tissue | 0.60747575 |
| 79 | MP0004957_abnormal_blastocyst_morpholog | 0.60670364 |
| 80 | MP0002734_abnormal_mechanical_nocicepti | 0.60097421 |
| 81 | MP0005084_abnormal_gallbladder_morpholo | 0.59258729 |
| 82 | MP0009046_muscle_twitch | 0.59193002 |
| 83 | MP0001984_abnormal_olfaction | 0.58448995 |
| 84 | MP0005408_hypopigmentation | 0.58391593 |
| 85 | MP0003137_abnormal_impulse_conducting | 0.58348041 |
| 86 | MP0000778_abnormal_nervous_system | 0.58063425 |
| 87 | MP0001879_abnormal_lymphatic_vessel | 0.57303638 |
| 88 | MP0010307_abnormal_tumor_latency | 0.56535285 |
| 89 | MP0005391_vision/eye_phenotype | 0.55283626 |
| 90 | MP0004085_abnormal_heartbeat | 0.55010751 |
| 91 | MP0002138_abnormal_hepatobiliary_system | 0.54709756 |
| 92 | MP0005083_abnormal_biliary_tract | 0.54534100 |
| 93 | MP0003635_abnormal_synaptic_transmissio | 0.53414044 |
| 94 | MP0002653_abnormal_ependyma_morphology | 0.50591929 |
| 95 | MP0000681_abnormal_thyroid_gland | 0.50282040 |
| 96 | MP0005332_abnormal_amino_acid | 0.48343325 |
| 97 | MP0003861_abnormal_nervous_system | 0.47402585 |
| 98 | MP0002736_abnormal_nociception_after | 0.45792441 |
| 99 | MP0001119_abnormal_female_reproductive | 0.44876276 |
| 100 | MP0010094_abnormal_chromosome_stability | 0.44660967 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.68149799 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 6.68149799 |
| 3 | Chronic hepatic failure (HP:0100626) | 6.16901254 |
| 4 | Severe visual impairment (HP:0001141) | 5.82072445 |
| 5 | Abnormal respiratory motile cilium physiology (HP:0012261) | 5.69332094 |
| 6 | Tubulointerstitial nephritis (HP:0001970) | 5.53235132 |
| 7 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 5.45568983 |
| 8 | Abnormal ciliary motility (HP:0012262) | 5.44101001 |
| 9 | Abnormal respiratory epithelium morphology (HP:0012253) | 5.21429799 |
| 10 | Abnormal respiratory motile cilium morphology (HP:0005938) | 5.21429799 |
| 11 | Attenuation of retinal blood vessels (HP:0007843) | 4.92825572 |
| 12 | Male infertility (HP:0003251) | 4.88115808 |
| 13 | Infertility (HP:0000789) | 4.49133637 |
| 14 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.48211624 |
| 15 | Asymmetric septal hypertrophy (HP:0001670) | 4.02830667 |
| 16 | Cone-rod dystrophy (HP:0000548) | 3.96910918 |
| 17 | Nasal polyposis (HP:0100582) | 3.92503424 |
| 18 | Nephronophthisis (HP:0000090) | 3.82630927 |
| 19 | Rhinitis (HP:0012384) | 3.61604336 |
| 20 | Hyperkalemia (HP:0002153) | 3.38613124 |
| 21 | Resting tremor (HP:0002322) | 3.32589697 |
| 22 | Impulsivity (HP:0100710) | 3.09945126 |
| 23 | Abnormality of macular pigmentation (HP:0008002) | 3.09902144 |
| 24 | Abnormality of the renal medulla (HP:0100957) | 3.07287634 |
| 25 | Abnormality of the nasal mucosa (HP:0000433) | 3.03372083 |
| 26 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.02097717 |
| 27 | Bell-shaped thorax (HP:0001591) | 2.95440555 |
| 28 | Tubulointerstitial abnormality (HP:0001969) | 2.90306628 |
| 29 | Hypoplasia of the thymus (HP:0000778) | 2.89815089 |
| 30 | Stage 5 chronic kidney disease (HP:0003774) | 2.88251821 |
| 31 | Abnormal spermatogenesis (HP:0008669) | 2.85903054 |
| 32 | Chronic bronchitis (HP:0004469) | 2.84049222 |
| 33 | Progressive cerebellar ataxia (HP:0002073) | 2.75126641 |
| 34 | Polydipsia (HP:0001959) | 2.73937510 |
| 35 | Abnormal drinking behavior (HP:0030082) | 2.73937510 |
| 36 | Enlarged epiphyses (HP:0010580) | 2.69142240 |
| 37 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.68882069 |
| 38 | Facial shape deformation (HP:0011334) | 2.68378558 |
| 39 | Potter facies (HP:0002009) | 2.68378558 |
| 40 | Azoospermia (HP:0000027) | 2.60261286 |
| 41 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.58448976 |
| 42 | Amelogenesis imperfecta (HP:0000705) | 2.51779922 |
| 43 | Abnormality of the costochondral junction (HP:0000919) | 2.51665366 |
| 44 | Bronchiectasis (HP:0002110) | 2.46872924 |
| 45 | Hypoplastic ischia (HP:0003175) | 2.45695665 |
| 46 | Postural instability (HP:0002172) | 2.42351081 |
| 47 | Pancreatic fibrosis (HP:0100732) | 2.40157071 |
| 48 | Abnormal urine output (HP:0012590) | 2.39729181 |
| 49 | Occipital encephalocele (HP:0002085) | 2.38770713 |
| 50 | Abnormality of dental color (HP:0011073) | 2.37906141 |
| 51 | Menstrual irregularities (HP:0000858) | 2.35382452 |
| 52 | Truncal obesity (HP:0001956) | 2.32260316 |
| 53 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.31530349 |
| 54 | Renovascular hypertension (HP:0100817) | 2.30305125 |
| 55 | Abnormality of the hepatic vasculature (HP:0006707) | 2.26260061 |
| 56 | Myokymia (HP:0002411) | 2.23716400 |
| 57 | Generalized aminoaciduria (HP:0002909) | 2.23627217 |
| 58 | Hypophosphatemic rickets (HP:0004912) | 2.23465541 |
| 59 | Intellectual disability, moderate (HP:0002342) | 2.23213773 |
| 60 | Fetal akinesia sequence (HP:0001989) | 2.23181546 |
| 61 | Progressive sensorineural hearing impairment (HP:0000408) | 2.22673700 |
| 62 | Tubular atrophy (HP:0000092) | 2.22111333 |
| 63 | Decreased central vision (HP:0007663) | 2.19689177 |
| 64 | Renal dysplasia (HP:0000110) | 2.19516561 |
| 65 | Renal Fanconi syndrome (HP:0001994) | 2.16209690 |
| 66 | Hypoalphalipoproteinemia (HP:0003233) | 2.11928485 |
| 67 | Polyuria (HP:0000103) | 2.11100840 |
| 68 | Molar tooth sign on MRI (HP:0002419) | 2.10266554 |
| 69 | Abnormality of midbrain morphology (HP:0002418) | 2.10266554 |
| 70 | Portal hypertension (HP:0001409) | 2.09437855 |
| 71 | Abnormality of the ischium (HP:0003174) | 2.06515675 |
| 72 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.03935085 |
| 73 | Abnormality of renal excretion (HP:0011036) | 2.00742149 |
| 74 | True hermaphroditism (HP:0010459) | 1.99871335 |
| 75 | Short nail (HP:0001799) | 1.99820482 |
| 76 | Pancreatic cysts (HP:0001737) | 1.92336220 |
| 77 | Widely patent fontanelles and sutures (HP:0004492) | 1.83722925 |
| 78 | Horizontal nystagmus (HP:0000666) | 1.80105590 |
| 79 | Type II lissencephaly (HP:0007260) | 1.79675955 |
| 80 | Spontaneous abortion (HP:0005268) | 1.76923500 |
| 81 | Recurrent corneal erosions (HP:0000495) | 1.76457929 |
| 82 | Cystic liver disease (HP:0006706) | 1.75930413 |
| 83 | Congenital hepatic fibrosis (HP:0002612) | 1.75413368 |
| 84 | Hypoalbuminemia (HP:0003073) | 1.74884320 |
| 85 | Abnormal albumin level (HP:0012116) | 1.74884320 |
| 86 | Upper limb muscle weakness (HP:0003484) | 1.74301347 |
| 87 | Failure to thrive in infancy (HP:0001531) | 1.72039304 |
| 88 | Obsessive-compulsive behavior (HP:0000722) | 1.70755365 |
| 89 | Respiratory distress (HP:0002098) | 1.69892864 |
| 90 | Flattened epiphyses (HP:0003071) | 1.68789139 |
| 91 | Abnormality of the aortic arch (HP:0012303) | 1.66577595 |
| 92 | Atonic seizures (HP:0010819) | 1.62272207 |
| 93 | Ventricular tachycardia (HP:0004756) | 1.61103902 |
| 94 | Absent epiphyses (HP:0010577) | 1.60246804 |
| 95 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.60246804 |
| 96 | Osteomalacia (HP:0002749) | 1.59411487 |
| 97 | Median cleft lip (HP:0000161) | 1.59011697 |
| 98 | Action tremor (HP:0002345) | 1.58818704 |
| 99 | Focal segmental glomerulosclerosis (HP:0000097) | 1.58586209 |
| 100 | Atelectasis (HP:0100750) | 1.58444553 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.16361711 |
| 2 | MAPK15 | 4.63582087 |
| 3 | TESK1 | 4.30438934 |
| 4 | PNCK | 3.93365342 |
| 5 | BRD4 | 3.26561305 |
| 6 | INSRR | 3.18764596 |
| 7 | STK38 | 3.11589235 |
| 8 | PLK2 | 2.91792879 |
| 9 | DDR2 | 2.80433398 |
| 10 | PRKD3 | 2.51642865 |
| 11 | STK38L | 2.45656716 |
| 12 | CAMK1G | 2.02024849 |
| 13 | CCNB1 | 2.00032137 |
| 14 | MAP4K2 | 1.86745982 |
| 15 | DYRK1B | 1.80289516 |
| 16 | WNK1 | 1.75780701 |
| 17 | CDK12 | 1.59964787 |
| 18 | PTK2B | 1.50750301 |
| 19 | PDPK1 | 1.47300841 |
| 20 | NEK6 | 1.40327978 |
| 21 | TYRO3 | 1.35646439 |
| 22 | WNK4 | 1.33280301 |
| 23 | PDK1 | 1.29332294 |
| 24 | SIK2 | 1.24686485 |
| 25 | PIK3CG | 1.21947716 |
| 26 | KSR2 | 1.19706345 |
| 27 | MST1R | 1.10149398 |
| 28 | NTRK3 | 1.07642636 |
| 29 | CDK7 | 1.05461716 |
| 30 | MAP3K2 | 1.04460580 |
| 31 | BRAF | 1.00671956 |
| 32 | MUSK | 0.91484453 |
| 33 | DYRK3 | 0.91399477 |
| 34 | BMPR1B | 0.85325905 |
| 35 | STK39 | 0.80754277 |
| 36 | MAPK13 | 0.79502664 |
| 37 | STK16 | 0.71349568 |
| 38 | MARK1 | 0.69238283 |
| 39 | CAMK1D | 0.67642174 |
| 40 | PIM2 | 0.67403045 |
| 41 | BRSK1 | 0.64977920 |
| 42 | LATS2 | 0.64175540 |
| 43 | ACVR1B | 0.63778731 |
| 44 | AKT3 | 0.62456111 |
| 45 | PKN1 | 0.60922388 |
| 46 | TLK1 | 0.59690236 |
| 47 | CDK2 | 0.56003268 |
| 48 | AURKA | 0.55062363 |
| 49 | MAP2K2 | 0.54511733 |
| 50 | RPS6KA2 | 0.53389942 |
| 51 | CDK1 | 0.52724448 |
| 52 | NEK2 | 0.51908734 |
| 53 | PRKG1 | 0.51280905 |
| 54 | BLK | 0.49749754 |
| 55 | ARAF | 0.47502059 |
| 56 | ROCK1 | 0.46317089 |
| 57 | BRSK2 | 0.46163770 |
| 58 | RPS6KA1 | 0.45871897 |
| 59 | CHEK1 | 0.45174830 |
| 60 | GSK3B | 0.44945899 |
| 61 | MAP3K9 | 0.44647103 |
| 62 | WNK3 | 0.44023255 |
| 63 | MARK2 | 0.42826428 |
| 64 | MTOR | 0.41862156 |
| 65 | CDK19 | 0.40675565 |
| 66 | PRKCG | 0.37777013 |
| 67 | MAPK8 | 0.37705620 |
| 68 | CDK3 | 0.36101199 |
| 69 | CHEK2 | 0.35961740 |
| 70 | UHMK1 | 0.35612001 |
| 71 | MAP3K7 | 0.35541239 |
| 72 | ICK | 0.35359030 |
| 73 | MAPK1 | 0.34829019 |
| 74 | SRPK1 | 0.33625158 |
| 75 | CAMK1 | 0.31447241 |
| 76 | ERBB3 | 0.31372971 |
| 77 | MAP3K11 | 0.31056874 |
| 78 | SGK223 | 0.30662062 |
| 79 | SGK494 | 0.30662062 |
| 80 | MARK3 | 0.30645169 |
| 81 | ADRBK2 | 0.30023652 |
| 82 | PLK1 | 0.28977608 |
| 83 | VRK1 | 0.28848027 |
| 84 | CDK4 | 0.28760283 |
| 85 | SGK1 | 0.28735017 |
| 86 | PRKAA2 | 0.26719835 |
| 87 | PRKG2 | 0.25700638 |
| 88 | MAP3K8 | 0.25325689 |
| 89 | MAPK14 | 0.24478323 |
| 90 | PRKCZ | 0.23056905 |
| 91 | MET | 0.22088668 |
| 92 | LATS1 | 0.21910202 |
| 93 | NEK9 | 0.21387189 |
| 94 | CAMK4 | 0.20733207 |
| 95 | RPS6KA6 | 0.19910557 |
| 96 | TIE1 | 0.19713582 |
| 97 | MAP3K4 | 0.17616353 |
| 98 | MAP3K10 | 0.17117490 |
| 99 | RPS6KC1 | 0.16686107 |
| 100 | RPS6KL1 | 0.16686107 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.25949461 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.82083093 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.61413923 |
| 4 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 2.96440918 |
| 5 | RNA transport_Homo sapiens_hsa03013 | 2.43369624 |
| 6 | Taste transduction_Homo sapiens_hsa04742 | 2.26778855 |
| 7 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.03341922 |
| 8 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.86294198 |
| 9 | Sulfur relay system_Homo sapiens_hsa04122 | 1.81404042 |
| 10 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.67908219 |
| 11 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.64017515 |
| 12 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.61833751 |
| 13 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.61503357 |
| 14 | Nicotine addiction_Homo sapiens_hsa05033 | 1.60788464 |
| 15 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.59116521 |
| 16 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.58193747 |
| 17 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.43160670 |
| 18 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.42232862 |
| 19 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.41566477 |
| 20 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.39498202 |
| 21 | Phototransduction_Homo sapiens_hsa04744 | 1.38618047 |
| 22 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.36808313 |
| 23 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.33158583 |
| 24 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.30991246 |
| 25 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.27128193 |
| 26 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.23342848 |
| 27 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.20584252 |
| 28 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.18889016 |
| 29 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.18359822 |
| 30 | Basal transcription factors_Homo sapiens_hsa03022 | 1.15696779 |
| 31 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.10380207 |
| 32 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.08453698 |
| 33 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.00778297 |
| 34 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.97646510 |
| 35 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.96091316 |
| 36 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.95936968 |
| 37 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.94776431 |
| 38 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.94553072 |
| 39 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.91542059 |
| 40 | Endocytosis_Homo sapiens_hsa04144 | 0.90760713 |
| 41 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.89268275 |
| 42 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.88072254 |
| 43 | Salivary secretion_Homo sapiens_hsa04970 | 0.86171071 |
| 44 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.85786527 |
| 45 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.83457080 |
| 46 | Base excision repair_Homo sapiens_hsa03410 | 0.83005993 |
| 47 | Morphine addiction_Homo sapiens_hsa05032 | 0.82407893 |
| 48 | ABC transporters_Homo sapiens_hsa02010 | 0.81060987 |
| 49 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.80452746 |
| 50 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.77421858 |
| 51 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.77193225 |
| 52 | Huntingtons disease_Homo sapiens_hsa05016 | 0.75250767 |
| 53 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.75086467 |
| 54 | Homologous recombination_Homo sapiens_hsa03440 | 0.73529123 |
| 55 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.71922284 |
| 56 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.69123931 |
| 57 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.66898956 |
| 58 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.66824181 |
| 59 | Purine metabolism_Homo sapiens_hsa00230 | 0.61502198 |
| 60 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.60953783 |
| 61 | Circadian entrainment_Homo sapiens_hsa04713 | 0.60038638 |
| 62 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.59272670 |
| 63 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.58866062 |
| 64 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.58030337 |
| 65 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.57605166 |
| 66 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.55916504 |
| 67 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.55839581 |
| 68 | Cell cycle_Homo sapiens_hsa04110 | 0.55162306 |
| 69 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.54005619 |
| 70 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.52962214 |
| 71 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.52623728 |
| 72 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.49724470 |
| 73 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.49640076 |
| 74 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.48788366 |
| 75 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.47350434 |
| 76 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.47157454 |
| 77 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.44840333 |
| 78 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.44799908 |
| 79 | Insulin secretion_Homo sapiens_hsa04911 | 0.44258494 |
| 80 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.43456187 |
| 81 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.41587579 |
| 82 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.39817754 |
| 83 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.38712562 |
| 84 | Bile secretion_Homo sapiens_hsa04976 | 0.37802625 |
| 85 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.37742879 |
| 86 | Cocaine addiction_Homo sapiens_hsa05030 | 0.34957150 |
| 87 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.33609022 |
| 88 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.33330712 |
| 89 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.32788255 |
| 90 | Metabolic pathways_Homo sapiens_hsa01100 | 0.31497802 |
| 91 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.31470635 |
| 92 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.30907973 |
| 93 | Long-term potentiation_Homo sapiens_hsa04720 | 0.30047403 |
| 94 | Influenza A_Homo sapiens_hsa05164 | 0.29980945 |
| 95 | Alcoholism_Homo sapiens_hsa05034 | 0.26819123 |
| 96 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.26405173 |
| 97 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.25477769 |
| 98 | GABAergic synapse_Homo sapiens_hsa04727 | 0.25205253 |
| 99 | Retinol metabolism_Homo sapiens_hsa00830 | 0.25063019 |
| 100 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.22699052 |

