

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.80235244 |
| 2 | microtubule depolymerization (GO:0007019) | 8.45461411 |
| 3 | sperm capacitation (GO:0048240) | 8.09808391 |
| 4 | single strand break repair (GO:0000012) | 8.02839779 |
| 5 | chromosome condensation (GO:0030261) | 7.93501784 |
| 6 | DNA packaging (GO:0006323) | 7.86431667 |
| 7 | spermatid development (GO:0007286) | 7.82084223 |
| 8 | plasma membrane fusion (GO:0045026) | 7.56677364 |
| 9 | spermatid nucleus differentiation (GO:0007289) | 7.26913695 |
| 10 | rRNA methylation (GO:0031167) | 7.03892976 |
| 11 | response to pheromone (GO:0019236) | 6.81475406 |
| 12 | protein polyglutamylation (GO:0018095) | 6.73149845 |
| 13 | multicellular organism reproduction (GO:0032504) | 6.67068394 |
| 14 | microtubule polymerization or depolymerization (GO:0031109) | 6.65363050 |
| 15 | sperm-egg recognition (GO:0035036) | 6.52785770 |
| 16 | rRNA modification (GO:0000154) | 6.38882541 |
| 17 | reproduction (GO:0000003) | 6.31427008 |
| 18 | axonemal dynein complex assembly (GO:0070286) | 6.29311098 |
| 19 | sexual reproduction (GO:0019953) | 6.20705562 |
| 20 | protein targeting to Golgi (GO:0000042) | 5.97247376 |
| 21 | calcium ion-dependent exocytosis (GO:0017156) | 5.73045281 |
| 22 | regulation of cilium movement (GO:0003352) | 5.72699014 |
| 23 | establishment of protein localization to Golgi (GO:0072600) | 5.72219252 |
| 24 | centriole replication (GO:0007099) | 5.64363325 |
| 25 | cellular ketone body metabolic process (GO:0046950) | 5.60173820 |
| 26 | spermatogenesis (GO:0007283) | 5.59672516 |
| 27 | microtubule severing (GO:0051013) | 5.59295407 |
| 28 | male gamete generation (GO:0048232) | 5.58371218 |
| 29 | RNA destabilization (GO:0050779) | 5.58228308 |
| 30 | binding of sperm to zona pellucida (GO:0007339) | 5.56401022 |
| 31 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.50928681 |
| 32 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.49198789 |
| 33 | cell-cell recognition (GO:0009988) | 5.30346406 |
| 34 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.21662509 |
| 35 | gamete generation (GO:0007276) | 5.14495226 |
| 36 | negative regulation of inclusion body assembly (GO:0090084) | 5.13262436 |
| 37 | ketone body metabolic process (GO:1902224) | 4.93709598 |
| 38 | epithelial cilium movement (GO:0003351) | 4.93447444 |
| 39 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.83712694 |
| 40 | centriole assembly (GO:0098534) | 4.83426754 |
| 41 | cell wall macromolecule metabolic process (GO:0044036) | 4.72651795 |
| 42 | single fertilization (GO:0007338) | 4.63156193 |
| 43 | motile cilium assembly (GO:0044458) | 4.37295810 |
| 44 | regulation of microtubule-based movement (GO:0060632) | 4.34668508 |
| 45 | protein localization to Golgi apparatus (GO:0034067) | 4.32557605 |
| 46 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.30835065 |
| 47 | germ cell development (GO:0007281) | 4.30731689 |
| 48 | cilium movement (GO:0003341) | 4.25031929 |
| 49 | cell wall macromolecule catabolic process (GO:0016998) | 4.23654997 |
| 50 | multicellular organismal reproductive process (GO:0048609) | 4.08959377 |
| 51 | regulation of centriole replication (GO:0046599) | 4.07673722 |
| 52 | piRNA metabolic process (GO:0034587) | 4.02976338 |
| 53 | positive regulation of Rab GTPase activity (GO:0032851) | 4.01028517 |
| 54 | regulation of Rab GTPase activity (GO:0032313) | 4.01028517 |
| 55 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.97125925 |
| 56 | seminiferous tubule development (GO:0072520) | 3.97081177 |
| 57 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.88606875 |
| 58 | fertilization (GO:0009566) | 3.86006688 |
| 59 | polyamine biosynthetic process (GO:0006596) | 3.81819708 |
| 60 | organic cation transport (GO:0015695) | 3.76322268 |
| 61 | regulation of inclusion body assembly (GO:0090083) | 3.66143212 |
| 62 | DNA methylation involved in gamete generation (GO:0043046) | 3.56136165 |
| 63 | musculoskeletal movement (GO:0050881) | 3.49147443 |
| 64 | multicellular organismal movement (GO:0050879) | 3.49147443 |
| 65 | sequestering of actin monomers (GO:0042989) | 3.38341530 |
| 66 | glycerol ether metabolic process (GO:0006662) | 3.32387460 |
| 67 | regulation of interleukin-13 production (GO:0032656) | 3.23928828 |
| 68 | nucleus organization (GO:0006997) | 3.23109452 |
| 69 | histone exchange (GO:0043486) | 3.18868498 |
| 70 | microtubule nucleation (GO:0007020) | 3.13422659 |
| 71 | response to acidic pH (GO:0010447) | 3.11355219 |
| 72 | ether metabolic process (GO:0018904) | 3.10083276 |
| 73 | male meiosis (GO:0007140) | 3.08419134 |
| 74 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.07579830 |
| 75 | coenzyme catabolic process (GO:0009109) | 3.06312781 |
| 76 | regulation of somitogenesis (GO:0014807) | 3.04552746 |
| 77 | male meiosis I (GO:0007141) | 3.04492456 |
| 78 | chromatin silencing (GO:0006342) | 2.99702619 |
| 79 | multicellular organismal development (GO:0007275) | 2.97627005 |
| 80 | protein neddylation (GO:0045116) | 2.94582493 |
| 81 | positive regulation of endothelial cell differentiation (GO:0045603) | 2.93316964 |
| 82 | cellular response to pH (GO:0071467) | 2.93074009 |
| 83 | negative regulation of Rho protein signal transduction (GO:0035024) | 2.90510794 |
| 84 | spinal cord motor neuron differentiation (GO:0021522) | 2.86658722 |
| 85 | regulation of meiosis I (GO:0060631) | 2.79027866 |
| 86 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.77056137 |
| 87 | pattern specification involved in kidney development (GO:0061004) | 2.75257819 |
| 88 | cell recognition (GO:0008037) | 2.72923084 |
| 89 | mitochondrial ATP synthesis coupled proton transport (GO:0042776) | 2.72084192 |
| 90 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.68925265 |
| 91 | cerebral cortex neuron differentiation (GO:0021895) | 2.68578992 |
| 92 | cellular biogenic amine biosynthetic process (GO:0042401) | 2.67786285 |
| 93 | axoneme assembly (GO:0035082) | 2.67536706 |
| 94 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 2.63116292 |
| 95 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.59434907 |
| 96 | cranial nerve morphogenesis (GO:0021602) | 2.59144623 |
| 97 | somite rostral/caudal axis specification (GO:0032525) | 2.58186554 |
| 98 | meiosis I (GO:0007127) | 2.58118081 |
| 99 | sperm motility (GO:0030317) | 11.2072024 |
| 100 | acrosome reaction (GO:0007340) | 10.3445219 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.71712615 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.19352988 |
| 3 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.84337528 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.49694680 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.49694680 |
| 6 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.39662067 |
| 7 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.37332653 |
| 8 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.35724691 |
| 9 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.24273365 |
| 10 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.19987944 |
| 11 | VDR_22108803_ChIP-Seq_LS180_Human | 2.17819251 |
| 12 | FUS_26573619_Chip-Seq_HEK293_Human | 2.14775572 |
| 13 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.08089769 |
| 14 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 2.00254008 |
| 15 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.94468968 |
| 16 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.91997491 |
| 17 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.91284540 |
| 18 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.90469711 |
| 19 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.90469711 |
| 20 | ERA_21632823_ChIP-Seq_H3396_Human | 1.83932736 |
| 21 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.77715462 |
| 22 | P300_19829295_ChIP-Seq_ESCs_Human | 1.72191623 |
| 23 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.71873596 |
| 24 | AR_25329375_ChIP-Seq_VCAP_Human | 1.65950846 |
| 25 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.64928065 |
| 26 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.63083922 |
| 27 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.62406522 |
| 28 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.61002131 |
| 29 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.59335032 |
| 30 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.59329613 |
| 31 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.58206111 |
| 32 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.54354202 |
| 33 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.51860981 |
| 34 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.48650350 |
| 35 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.47747953 |
| 36 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.46829360 |
| 37 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.46296974 |
| 38 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.43813702 |
| 39 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.43674833 |
| 40 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.43177533 |
| 41 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.43118475 |
| 42 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.39770635 |
| 43 | * RBPJ_21746931_ChIP-Seq_IB4_Human | 1.39710975 |
| 44 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.39003467 |
| 45 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.37711768 |
| 46 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.37711768 |
| 47 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.37499429 |
| 48 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.36714555 |
| 49 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.36714555 |
| 50 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.36203559 |
| 51 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.36017545 |
| 52 | * ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.35837703 |
| 53 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.35821522 |
| 54 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.34554012 |
| 55 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.33942231 |
| 56 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.33600259 |
| 57 | * TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.31798754 |
| 58 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.28144381 |
| 59 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.27815902 |
| 60 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.26480266 |
| 61 | * ETV1_20927104_ChIP-Seq_GIST48_Human | 1.26305338 |
| 62 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.26247122 |
| 63 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.23949452 |
| 64 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.23795174 |
| 65 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.23219355 |
| 66 | * YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.22587690 |
| 67 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.22181700 |
| 68 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.19778119 |
| 69 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.19702550 |
| 70 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.19183007 |
| 71 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.19027229 |
| 72 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.17641066 |
| 73 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.17224220 |
| 74 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.16422783 |
| 75 | NFYB_21822215_ChIP-Seq_K562_Human | 1.15755449 |
| 76 | P300_27268052_Chip-Seq_Bcells_Human | 1.15567445 |
| 77 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.15134692 |
| 78 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.14759236 |
| 79 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.13265298 |
| 80 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.11761447 |
| 81 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.10743353 |
| 82 | * TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.10713940 |
| 83 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.10211112 |
| 84 | SALL4_22934838_ChIP-ChIP_CD34+_Human | 1.09009086 |
| 85 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.08485065 |
| 86 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.07880791 |
| 87 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.07064642 |
| 88 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.05642154 |
| 89 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.05578011 |
| 90 | STAT3_23295773_ChIP-Seq_U87_Human | 1.05291157 |
| 91 | TBL1_22424771_ChIP-Seq_293T_Human | 1.04642555 |
| 92 | * RUNX2_22187159_ChIP-Seq_PCA_Human | 1.04197446 |
| 93 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.03318641 |
| 94 | NFYA_21822215_ChIP-Seq_K562_Human | 1.03038634 |
| 95 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.03037412 |
| 96 | * PHF8_20622854_ChIP-Seq_HELA_Human | 1.01936929 |
| 97 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.01629277 |
| 98 | NCOR_22424771_ChIP-Seq_293T_Human | 1.00846975 |
| 99 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.00531276 |
| 100 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 0.99927361 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005377_hearing/vestibular/ear_phenot | 4.22131280 |
| 2 | MP0003878_abnormal_ear_physiology | 4.22131280 |
| 3 | MP0003698_abnormal_male_reproductive | 3.94973488 |
| 4 | MP0005670_abnormal_white_adipose | 3.74783456 |
| 5 | MP0001929_abnormal_gametogenesis | 3.50362370 |
| 6 | MP0002822_catalepsy | 2.68556903 |
| 7 | MP0003718_maternal_effect | 2.54654406 |
| 8 | MP0003011_delayed_dark_adaptation | 2.34819154 |
| 9 | MP0001348_abnormal_lacrimal_gland | 2.33048092 |
| 10 | MP0002161_abnormal_fertility/fecundity | 2.21035241 |
| 11 | MP0005410_abnormal_fertilization | 10.3268120 |
| 12 | MP0009379_abnormal_foot_pigmentation | 1.94872397 |
| 13 | MP0000566_synostosis | 1.94231621 |
| 14 | MP0003646_muscle_fatigue | 1.83289033 |
| 15 | MP0002210_abnormal_sex_determination | 1.81718664 |
| 16 | MP0001968_abnormal_touch/_nociception | 1.78984436 |
| 17 | MP0002234_abnormal_pharynx_morphology | 1.73778362 |
| 18 | MP0001485_abnormal_pinna_reflex | 1.65145615 |
| 19 | MP0002735_abnormal_chemical_nociception | 1.60280849 |
| 20 | MP0002653_abnormal_ependyma_morphology | 1.50335182 |
| 21 | MP0005423_abnormal_somatic_nervous | 1.50258921 |
| 22 | MP0008877_abnormal_DNA_methylation | 1.46834001 |
| 23 | MP0000653_abnormal_sex_gland | 1.45603687 |
| 24 | MP0001145_abnormal_male_reproductive | 1.42362883 |
| 25 | MP0001486_abnormal_startle_reflex | 1.40853383 |
| 26 | MP0002736_abnormal_nociception_after | 1.38042732 |
| 27 | MP0002132_abnormal_respiratory_system | 1.36481971 |
| 28 | MP0005551_abnormal_eye_electrophysiolog | 1.35460888 |
| 29 | MP0002282_abnormal_trachea_morphology | 1.32854032 |
| 30 | MP0009053_abnormal_anal_canal | 1.32616248 |
| 31 | MP0004742_abnormal_vestibular_system | 1.30910554 |
| 32 | MP0005084_abnormal_gallbladder_morpholo | 1.27827442 |
| 33 | MP0000678_abnormal_parathyroid_gland | 1.25053186 |
| 34 | MP0001905_abnormal_dopamine_level | 1.22956610 |
| 35 | MP0009697_abnormal_copulation | 1.20124133 |
| 36 | MP0003283_abnormal_digestive_organ | 1.18195601 |
| 37 | MP0004859_abnormal_synaptic_plasticity | 1.15106194 |
| 38 | MP0005379_endocrine/exocrine_gland_phen | 1.13788627 |
| 39 | MP0001765_abnormal_ion_homeostasis | 1.10935210 |
| 40 | MP0005646_abnormal_pituitary_gland | 1.08666906 |
| 41 | MP0001963_abnormal_hearing_physiology | 1.07866291 |
| 42 | MP0005310_abnormal_salivary_gland | 1.06949610 |
| 43 | MP0002138_abnormal_hepatobiliary_system | 1.06715173 |
| 44 | MP0000026_abnormal_inner_ear | 1.06690665 |
| 45 | MP0005253_abnormal_eye_physiology | 1.06582029 |
| 46 | MP0005645_abnormal_hypothalamus_physiol | 1.04979925 |
| 47 | MP0009745_abnormal_behavioral_response | 1.04887063 |
| 48 | MP0002928_abnormal_bile_duct | 1.03663698 |
| 49 | MP0002249_abnormal_larynx_morphology | 0.99974541 |
| 50 | MP0002272_abnormal_nervous_system | 0.99189103 |
| 51 | MP0004142_abnormal_muscle_tone | 0.98989479 |
| 52 | MP0003880_abnormal_central_pattern | 0.98963673 |
| 53 | MP0006292_abnormal_olfactory_placode | 0.98516015 |
| 54 | MP0002067_abnormal_sensory_capabilities | 0.96992586 |
| 55 | MP0005636_abnormal_mineral_homeostasis | 0.92630618 |
| 56 | MP0003879_abnormal_hair_cell | 0.91156895 |
| 57 | MP0005395_other_phenotype | 0.90917527 |
| 58 | MP0002733_abnormal_thermal_nociception | 0.86150893 |
| 59 | MP0008995_early_reproductive_senescence | 0.85543850 |
| 60 | MP0010386_abnormal_urinary_bladder | 0.82950671 |
| 61 | MP0002229_neurodegeneration | 0.82802862 |
| 62 | MP0006276_abnormal_autonomic_nervous | 0.82601717 |
| 63 | MP0005367_renal/urinary_system_phenotyp | 0.79624994 |
| 64 | MP0000516_abnormal_urinary_system | 0.79624994 |
| 65 | MP0002557_abnormal_social/conspecific_i | 0.79442550 |
| 66 | MP0004085_abnormal_heartbeat | 0.78161771 |
| 67 | MP0000049_abnormal_middle_ear | 0.77728130 |
| 68 | MP0000955_abnormal_spinal_cord | 0.77009153 |
| 69 | MP0002572_abnormal_emotion/affect_behav | 0.76788123 |
| 70 | MP0000534_abnormal_ureter_morphology | 0.76036120 |
| 71 | MP0001529_abnormal_vocalization | 0.75958341 |
| 72 | MP0002102_abnormal_ear_morphology | 0.74209425 |
| 73 | MP0005408_hypopigmentation | 0.72318478 |
| 74 | MP0009764_decreased_sensitivity_to | 0.71859697 |
| 75 | MP0001879_abnormal_lymphatic_vessel | 0.69921012 |
| 76 | MP0008789_abnormal_olfactory_epithelium | 0.68317998 |
| 77 | MP0001501_abnormal_sleep_pattern | 0.67889012 |
| 78 | MP0008569_lethality_at_weaning | 0.67384406 |
| 79 | MP0000230_abnormal_systemic_arterial | 0.67213324 |
| 80 | MP0001970_abnormal_pain_threshold | 0.67096933 |
| 81 | MP0001666_abnormal_nutrient_absorption | 0.66565061 |
| 82 | MP0001984_abnormal_olfaction | 0.66557779 |
| 83 | MP0000631_abnormal_neuroendocrine_gland | 0.64050835 |
| 84 | MP0009046_muscle_twitch | 0.63913042 |
| 85 | MP0001440_abnormal_grooming_behavior | 0.63798833 |
| 86 | MP0002734_abnormal_mechanical_nocicepti | 0.63690494 |
| 87 | MP0004510_myositis | 0.62905077 |
| 88 | MP0001188_hyperpigmentation | 0.62308359 |
| 89 | MP0005167_abnormal_blood-brain_barrier | 0.57832354 |
| 90 | MP0002064_seizures | 0.57701199 |
| 91 | MP0008872_abnormal_physiological_respon | 0.56995394 |
| 92 | MP0003119_abnormal_digestive_system | 0.56786974 |
| 93 | MP0001293_anophthalmia | 0.55004283 |
| 94 | MP0006072_abnormal_retinal_apoptosis | 0.53655182 |
| 95 | MP0000372_irregular_coat_pigmentation | 0.53101322 |
| 96 | MP0008875_abnormal_xenobiotic_pharmacok | 0.50825898 |
| 97 | MP0002938_white_spotting | 0.49743673 |
| 98 | MP0005464_abnormal_platelet_physiology | 0.49080393 |
| 99 | MP0008961_abnormal_basal_metabolism | 0.48345534 |
| 100 | MP0003137_abnormal_impulse_conducting | 0.47698886 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 5.91277335 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.68255070 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 5.68255070 |
| 4 | Abnormal ciliary motility (HP:0012262) | 4.62000086 |
| 5 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.51984419 |
| 6 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.48343286 |
| 7 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.48343286 |
| 8 | Chronic hepatic failure (HP:0100626) | 4.41686549 |
| 9 | Attenuation of retinal blood vessels (HP:0007843) | 4.16175116 |
| 10 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.07255772 |
| 11 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.90371130 |
| 12 | Renal Fanconi syndrome (HP:0001994) | 3.87514718 |
| 13 | Infertility (HP:0000789) | 3.66975248 |
| 14 | Facial shape deformation (HP:0011334) | 3.62504819 |
| 15 | Potter facies (HP:0002009) | 3.62504819 |
| 16 | Tubulointerstitial nephritis (HP:0001970) | 3.52111749 |
| 17 | Enlarged epiphyses (HP:0010580) | 3.41560915 |
| 18 | Abnormality of macular pigmentation (HP:0008002) | 3.37352441 |
| 19 | Generalized aminoaciduria (HP:0002909) | 3.35864907 |
| 20 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.20151356 |
| 21 | Nasal polyposis (HP:0100582) | 3.18321540 |
| 22 | Male infertility (HP:0003251) | 3.14039377 |
| 23 | Nephronophthisis (HP:0000090) | 3.03443594 |
| 24 | Abnormal spermatogenesis (HP:0008669) | 3.03256892 |
| 25 | Rhinitis (HP:0012384) | 2.98687770 |
| 26 | Hyperkalemia (HP:0002153) | 2.97683549 |
| 27 | Asymmetric septal hypertrophy (HP:0001670) | 2.97423580 |
| 28 | Abnormality of renal resorption (HP:0011038) | 2.88118046 |
| 29 | Impulsivity (HP:0100710) | 2.87112614 |
| 30 | Cone-rod dystrophy (HP:0000548) | 2.82721534 |
| 31 | Optic nerve hypoplasia (HP:0000609) | 2.77585306 |
| 32 | Myokymia (HP:0002411) | 2.68856646 |
| 33 | Azoospermia (HP:0000027) | 2.65826197 |
| 34 | Bell-shaped thorax (HP:0001591) | 2.61080537 |
| 35 | Progressive cerebellar ataxia (HP:0002073) | 2.60982406 |
| 36 | Osteomalacia (HP:0002749) | 2.60133692 |
| 37 | Abnormal urine output (HP:0012590) | 2.55946746 |
| 38 | Renal dysplasia (HP:0000110) | 2.54768958 |
| 39 | Abnormality of urine glucose concentration (HP:0011016) | 2.53113260 |
| 40 | Glycosuria (HP:0003076) | 2.53113260 |
| 41 | Abnormality of the renal medulla (HP:0100957) | 2.51637036 |
| 42 | Pancreatic cysts (HP:0001737) | 2.49164542 |
| 43 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.48277708 |
| 44 | Resting tremor (HP:0002322) | 2.47794164 |
| 45 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.46766148 |
| 46 | Hypoplastic ischia (HP:0003175) | 2.43931915 |
| 47 | Pendular nystagmus (HP:0012043) | 2.36940810 |
| 48 | Abnormality of the nasal mucosa (HP:0000433) | 2.36710409 |
| 49 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.35598166 |
| 50 | Polydipsia (HP:0001959) | 2.35271748 |
| 51 | Abnormal drinking behavior (HP:0030082) | 2.35271748 |
| 52 | Type II lissencephaly (HP:0007260) | 2.32917440 |
| 53 | Unilateral renal agenesis (HP:0000122) | 2.27971552 |
| 54 | Exertional dyspnea (HP:0002875) | 2.24460779 |
| 55 | Amelogenesis imperfecta (HP:0000705) | 2.23702207 |
| 56 | Polyuria (HP:0000103) | 2.23401233 |
| 57 | Progressive sensorineural hearing impairment (HP:0000408) | 2.19941526 |
| 58 | Postural instability (HP:0002172) | 2.19423026 |
| 59 | Portal hypertension (HP:0001409) | 2.19151668 |
| 60 | Abnormality of renal excretion (HP:0011036) | 2.18751125 |
| 61 | Chronic bronchitis (HP:0004469) | 2.17948684 |
| 62 | Pancreatic fibrosis (HP:0100732) | 2.17587077 |
| 63 | Hypophosphatemic rickets (HP:0004912) | 2.14691291 |
| 64 | Tubulointerstitial abnormality (HP:0001969) | 2.12363535 |
| 65 | 3-Methylglutaconic aciduria (HP:0003535) | 2.12295469 |
| 66 | Abnormality of lateral ventricle (HP:0030047) | 2.08623629 |
| 67 | Bronchiectasis (HP:0002110) | 2.07631502 |
| 68 | Stage 5 chronic kidney disease (HP:0003774) | 2.07253743 |
| 69 | Decreased central vision (HP:0007663) | 2.04594987 |
| 70 | Recurrent corneal erosions (HP:0000495) | 2.02559748 |
| 71 | Optic disc pallor (HP:0000543) | 2.02408207 |
| 72 | Esophageal atresia (HP:0002032) | 2.02397282 |
| 73 | Acute necrotizing encephalopathy (HP:0006965) | 2.02290278 |
| 74 | Abnormality of potassium homeostasis (HP:0011042) | 2.02071879 |
| 75 | Abnormality of the costochondral junction (HP:0000919) | 2.01493957 |
| 76 | Abnormality of dental color (HP:0011073) | 1.99892999 |
| 77 | Abnormal pupillary function (HP:0007686) | 1.98505989 |
| 78 | Abnormality of the ischium (HP:0003174) | 1.98401060 |
| 79 | Abnormality of the hepatic vasculature (HP:0006707) | 1.97541592 |
| 80 | Menstrual irregularities (HP:0000858) | 1.94908175 |
| 81 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.92462545 |
| 82 | Increased hepatocellular lipid droplets (HP:0006565) | 1.92238625 |
| 83 | Hypoplasia of the thymus (HP:0000778) | 1.91786558 |
| 84 | Congenital, generalized hypertrichosis (HP:0004540) | 1.89977981 |
| 85 | Cerebellar dysplasia (HP:0007033) | 1.89326589 |
| 86 | Truncal obesity (HP:0001956) | 1.85811939 |
| 87 | Gastrointestinal atresia (HP:0002589) | 1.85099578 |
| 88 | Tubular atrophy (HP:0000092) | 1.83848798 |
| 89 | Hypoalphalipoproteinemia (HP:0003233) | 1.82445857 |
| 90 | Mitochondrial inheritance (HP:0001427) | 1.80867005 |
| 91 | Lipid accumulation in hepatocytes (HP:0006561) | 1.79323511 |
| 92 | Tetany (HP:0001281) | 1.76457570 |
| 93 | Absent thumb (HP:0009777) | 1.74125211 |
| 94 | Hyperphosphaturia (HP:0003109) | 1.73049999 |
| 95 | Bulbous nose (HP:0000414) | 1.72698270 |
| 96 | Median cleft lip (HP:0000161) | 1.70860565 |
| 97 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.70814863 |
| 98 | Abnormal mitochondria in muscle tissue (HP:0008316) | 1.70752657 |
| 99 | Acute encephalopathy (HP:0006846) | 1.70424056 |
| 100 | Upper limb muscle weakness (HP:0003484) | 1.68472005 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.47491060 |
| 2 | TESK1 | 4.73611887 |
| 3 | PNCK | 3.50824992 |
| 4 | DDR2 | 3.23850703 |
| 5 | PLK2 | 3.05190416 |
| 6 | MAP4K2 | 3.03970214 |
| 7 | INSRR | 2.97102483 |
| 8 | STK38 | 2.62884219 |
| 9 | STK38L | 2.56416263 |
| 10 | MAPK15 | 2.42280592 |
| 11 | ZAK | 2.24765466 |
| 12 | FRK | 1.87810519 |
| 13 | CAMK1G | 1.84843506 |
| 14 | TLK1 | 1.82588830 |
| 15 | PRKD3 | 1.44423134 |
| 16 | FGFR2 | 1.40834126 |
| 17 | PIK3CG | 1.40295938 |
| 18 | VRK2 | 1.30017080 |
| 19 | BRD4 | 1.26902475 |
| 20 | VRK1 | 1.23739496 |
| 21 | CDK7 | 1.18635604 |
| 22 | ACVR1B | 1.15824722 |
| 23 | WNK1 | 1.15384865 |
| 24 | ADRBK2 | 1.14716089 |
| 25 | WNK4 | 1.11396661 |
| 26 | SIK2 | 1.08884027 |
| 27 | PDK1 | 1.08187344 |
| 28 | NUAK1 | 1.05976988 |
| 29 | PDPK1 | 1.05725340 |
| 30 | NEK6 | 1.04910864 |
| 31 | TIE1 | 0.99933527 |
| 32 | BMPR1B | 0.97878802 |
| 33 | PTK2B | 0.93530485 |
| 34 | STK39 | 0.91836528 |
| 35 | PRKG1 | 0.89329025 |
| 36 | WNK3 | 0.89115153 |
| 37 | TESK2 | 0.88134430 |
| 38 | DYRK1B | 0.86014844 |
| 39 | PRKCG | 0.83867467 |
| 40 | DYRK2 | 0.80217557 |
| 41 | MAP3K9 | 0.79818642 |
| 42 | TXK | 0.79544081 |
| 43 | PINK1 | 0.78598622 |
| 44 | GRK1 | 0.75769569 |
| 45 | SRPK1 | 0.73704625 |
| 46 | NME1 | 0.70330320 |
| 47 | AKT3 | 0.70062559 |
| 48 | TRIM28 | 0.68258693 |
| 49 | GRK7 | 0.64789128 |
| 50 | MARK1 | 0.62453259 |
| 51 | TYRO3 | 0.61696163 |
| 52 | TAOK3 | 0.59601336 |
| 53 | TAF1 | 0.57821263 |
| 54 | BRSK2 | 0.57687246 |
| 55 | MINK1 | 0.56956859 |
| 56 | NEK2 | 0.56550394 |
| 57 | TNIK | 0.56135496 |
| 58 | MAP3K11 | 0.54086311 |
| 59 | TEC | 0.52414090 |
| 60 | UHMK1 | 0.50731516 |
| 61 | RIPK4 | 0.49300808 |
| 62 | PHKG2 | 0.48488067 |
| 63 | PHKG1 | 0.48488067 |
| 64 | PRKG2 | 0.47990455 |
| 65 | MST1R | 0.46258589 |
| 66 | CAMK1 | 0.45649281 |
| 67 | MKNK2 | 0.45629397 |
| 68 | MAP3K4 | 0.43913600 |
| 69 | RPS6KA1 | 0.43716632 |
| 70 | PLK3 | 0.42561969 |
| 71 | PAK3 | 0.41445681 |
| 72 | SGK223 | 0.41217489 |
| 73 | SGK494 | 0.41217489 |
| 74 | KSR2 | 0.40347715 |
| 75 | MAP2K2 | 0.39468670 |
| 76 | MAPK13 | 0.38935222 |
| 77 | CCNB1 | 0.38505878 |
| 78 | BRAF | 0.38168691 |
| 79 | PRKACA | 0.37781096 |
| 80 | CDK3 | 0.36815768 |
| 81 | PRKCZ | 0.36763580 |
| 82 | PRKAA2 | 0.35715787 |
| 83 | OXSR1 | 0.35127592 |
| 84 | PRKCB | 0.34087945 |
| 85 | NTRK3 | 0.34036345 |
| 86 | CDK1 | 0.33974813 |
| 87 | MYLK | 0.33742126 |
| 88 | DYRK3 | 0.33327709 |
| 89 | PRKCE | 0.33065496 |
| 90 | MUSK | 0.33000017 |
| 91 | SYK | 0.32946313 |
| 92 | STK16 | 0.32328004 |
| 93 | ADRBK1 | 0.32027831 |
| 94 | SGK1 | 0.31745688 |
| 95 | ROCK1 | 0.31640670 |
| 96 | PRKACB | 0.31289526 |
| 97 | MAP3K12 | 0.31120178 |
| 98 | GRK5 | 0.29720068 |
| 99 | GSK3B | 0.28917088 |
| 100 | PKN1 | 0.27862600 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.30300995 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.05670237 |
| 3 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 3.21256686 |
| 4 | Olfactory transduction_Homo sapiens_hsa04740 | 2.86974248 |
| 5 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.63003224 |
| 6 | Parkinsons disease_Homo sapiens_hsa05012 | 2.60256633 |
| 7 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 2.51469654 |
| 8 | Huntingtons disease_Homo sapiens_hsa05016 | 2.42569786 |
| 9 | Phototransduction_Homo sapiens_hsa04744 | 2.30586621 |
| 10 | Ribosome_Homo sapiens_hsa03010 | 2.17803979 |
| 11 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.80218366 |
| 12 | Alzheimers disease_Homo sapiens_hsa05010 | 1.72556727 |
| 13 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.58313188 |
| 14 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.48226350 |
| 15 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.47070816 |
| 16 | Allograft rejection_Homo sapiens_hsa05330 | 1.46437835 |
| 17 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.45910506 |
| 18 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.45864681 |
| 19 | Taste transduction_Homo sapiens_hsa04742 | 1.38507346 |
| 20 | RNA polymerase_Homo sapiens_hsa03020 | 1.31315275 |
| 21 | RNA transport_Homo sapiens_hsa03013 | 1.27698711 |
| 22 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.24218526 |
| 23 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.21381091 |
| 24 | Basal transcription factors_Homo sapiens_hsa03022 | 1.19329089 |
| 25 | Nicotine addiction_Homo sapiens_hsa05033 | 1.17308837 |
| 26 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.16347562 |
| 27 | Asthma_Homo sapiens_hsa05310 | 1.13304760 |
| 28 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.12876001 |
| 29 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.09929898 |
| 30 | Purine metabolism_Homo sapiens_hsa00230 | 1.08900774 |
| 31 | Proteasome_Homo sapiens_hsa03050 | 1.07734741 |
| 32 | Morphine addiction_Homo sapiens_hsa05032 | 1.04971840 |
| 33 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.04134883 |
| 34 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.00720906 |
| 35 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.00210622 |
| 36 | Protein export_Homo sapiens_hsa03060 | 0.98715549 |
| 37 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.98225764 |
| 38 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.97712494 |
| 39 | Circadian entrainment_Homo sapiens_hsa04713 | 0.96065906 |
| 40 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.95446043 |
| 41 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.90618632 |
| 42 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.87964910 |
| 43 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.87601660 |
| 44 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.85477196 |
| 45 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.82467976 |
| 46 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.81816058 |
| 47 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.80991764 |
| 48 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.78179206 |
| 49 | Salivary secretion_Homo sapiens_hsa04970 | 0.78002327 |
| 50 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.77655655 |
| 51 | Homologous recombination_Homo sapiens_hsa03440 | 0.77440940 |
| 52 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.70600999 |
| 53 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.69988210 |
| 54 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.69598829 |
| 55 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.68678251 |
| 56 | Retinol metabolism_Homo sapiens_hsa00830 | 0.67915038 |
| 57 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.67032541 |
| 58 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.66424445 |
| 59 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.65828621 |
| 60 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.65712569 |
| 61 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.65458797 |
| 62 | GABAergic synapse_Homo sapiens_hsa04727 | 0.64282446 |
| 63 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.60533850 |
| 64 | Metabolic pathways_Homo sapiens_hsa01100 | 0.59612007 |
| 65 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.59439348 |
| 66 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.57325652 |
| 67 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.55958496 |
| 68 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.54735955 |
| 69 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.54550832 |
| 70 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.51615588 |
| 71 | Alcoholism_Homo sapiens_hsa05034 | 0.51505921 |
| 72 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.51256646 |
| 73 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.50974886 |
| 74 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.49849414 |
| 75 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.48785247 |
| 76 | Peroxisome_Homo sapiens_hsa04146 | 0.46759524 |
| 77 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.46384144 |
| 78 | Mismatch repair_Homo sapiens_hsa03430 | 0.45965355 |
| 79 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.45369319 |
| 80 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.44717085 |
| 81 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.44158549 |
| 82 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.43416734 |
| 83 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.42229189 |
| 84 | ABC transporters_Homo sapiens_hsa02010 | 0.42169075 |
| 85 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.41833819 |
| 86 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.40288847 |
| 87 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.40173800 |
| 88 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.39988049 |
| 89 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.39706821 |
| 90 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.36866945 |
| 91 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.36630403 |
| 92 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.36253122 |
| 93 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.33504557 |
| 94 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.32604827 |
| 95 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.32562599 |
| 96 | Renin secretion_Homo sapiens_hsa04924 | 0.32541479 |
| 97 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.29500472 |
| 98 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.28979269 |
| 99 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.28642618 |
| 100 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.27460767 |

