

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | acrosome reaction (GO:0007340) | 9.30111582 |
| 2 | sperm motility (GO:0030317) | 9.06328574 |
| 3 | fusion of sperm to egg plasma membrane (GO:0007342) | 7.44598990 |
| 4 | response to pheromone (GO:0019236) | 7.32605104 |
| 5 | single strand break repair (GO:0000012) | 6.99255409 |
| 6 | protein polyglutamylation (GO:0018095) | 6.79024766 |
| 7 | spermatid development (GO:0007286) | 6.61254490 |
| 8 | multicellular organism reproduction (GO:0032504) | 6.16174472 |
| 9 | sperm-egg recognition (GO:0035036) | 5.91834395 |
| 10 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.81962536 |
| 11 | sperm capacitation (GO:0048240) | 5.70470887 |
| 12 | plasma membrane fusion (GO:0045026) | 5.64709046 |
| 13 | protein targeting to Golgi (GO:0000042) | 5.63483562 |
| 14 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.57799133 |
| 15 | microtubule depolymerization (GO:0007019) | 5.52772816 |
| 16 | establishment of protein localization to Golgi (GO:0072600) | 5.41115511 |
| 17 | calcium ion-dependent exocytosis (GO:0017156) | 5.33361027 |
| 18 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.22649461 |
| 19 | reproduction (GO:0000003) | 5.21146311 |
| 20 | binding of sperm to zona pellucida (GO:0007339) | 5.17790765 |
| 21 | regulation of cilium movement (GO:0003352) | 5.17523668 |
| 22 | epithelial cilium movement (GO:0003351) | 5.13948357 |
| 23 | chromosome condensation (GO:0030261) | 5.03627478 |
| 24 | cell-cell recognition (GO:0009988) | 5.01018342 |
| 25 | axonemal dynein complex assembly (GO:0070286) | 4.88611735 |
| 26 | DNA packaging (GO:0006323) | 4.87927303 |
| 27 | RNA destabilization (GO:0050779) | 4.69503726 |
| 28 | microtubule polymerization or depolymerization (GO:0031109) | 4.64488205 |
| 29 | centriole replication (GO:0007099) | 4.63559968 |
| 30 | cellular ketone body metabolic process (GO:0046950) | 4.59431322 |
| 31 | spermatogenesis (GO:0007283) | 4.57087066 |
| 32 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.55744438 |
| 33 | male gamete generation (GO:0048232) | 4.55392283 |
| 34 | regulation of ARF GTPase activity (GO:0032312) | 4.53890232 |
| 35 | spermatid nucleus differentiation (GO:0007289) | 4.51073680 |
| 36 | microtubule severing (GO:0051013) | 4.50251982 |
| 37 | motile cilium assembly (GO:0044458) | 4.40389738 |
| 38 | rRNA methylation (GO:0031167) | 4.34546352 |
| 39 | single fertilization (GO:0007338) | 4.32856799 |
| 40 | protein localization to Golgi apparatus (GO:0034067) | 4.28623220 |
| 41 | centriole assembly (GO:0098534) | 4.21399808 |
| 42 | cilium movement (GO:0003341) | 4.18209823 |
| 43 | gamete generation (GO:0007276) | 4.17247725 |
| 44 | regulation of Rab GTPase activity (GO:0032313) | 4.08986507 |
| 45 | positive regulation of Rab GTPase activity (GO:0032851) | 4.08986507 |
| 46 | ketone body metabolic process (GO:1902224) | 3.95347040 |
| 47 | behavioral response to nicotine (GO:0035095) | 3.82511133 |
| 48 | seminiferous tubule development (GO:0072520) | 3.79946744 |
| 49 | negative regulation of organelle assembly (GO:1902116) | 3.75119928 |
| 50 | organic cation transport (GO:0015695) | 3.67679764 |
| 51 | coenzyme catabolic process (GO:0009109) | 3.67197490 |
| 52 | rRNA modification (GO:0000154) | 3.63409570 |
| 53 | germ cell development (GO:0007281) | 3.59519887 |
| 54 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.57041613 |
| 55 | regulation of microtubule-based movement (GO:0060632) | 3.53519578 |
| 56 | regulation of sarcomere organization (GO:0060297) | 3.47928158 |
| 57 | receptor recycling (GO:0001881) | 3.43165097 |
| 58 | fertilization (GO:0009566) | 3.41872577 |
| 59 | chromatin silencing (GO:0006342) | 3.41033835 |
| 60 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.40993521 |
| 61 | sexual reproduction (GO:0019953) | 3.39828826 |
| 62 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.23276799 |
| 63 | axoneme assembly (GO:0035082) | 3.22228353 |
| 64 | ether metabolic process (GO:0018904) | 3.20482814 |
| 65 | multicellular organismal reproductive process (GO:0048609) | 3.17786603 |
| 66 | pyrimidine nucleobase catabolic process (GO:0006208) | 3.12918175 |
| 67 | regulation of action potential (GO:0098900) | 3.07340283 |
| 68 | regulation of inhibitory postsynaptic membrane potential (GO:0060080) | 3.04060943 |
| 69 | male meiosis (GO:0007140) | 3.04036690 |
| 70 | piRNA metabolic process (GO:0034587) | 2.99798568 |
| 71 | polyamine biosynthetic process (GO:0006596) | 2.97605152 |
| 72 | DNA methylation involved in gamete generation (GO:0043046) | 2.95218230 |
| 73 | cell recognition (GO:0008037) | 2.94500260 |
| 74 | regulation of centriole replication (GO:0046599) | 2.93670860 |
| 75 | negative regulation of Rho protein signal transduction (GO:0035024) | 2.92313477 |
| 76 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.87746820 |
| 77 | response to acidic pH (GO:0010447) | 2.87175908 |
| 78 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.86058321 |
| 79 | cellular response to pH (GO:0071467) | 2.85204526 |
| 80 | cell wall macromolecule metabolic process (GO:0044036) | 2.84704570 |
| 81 | cell wall macromolecule catabolic process (GO:0016998) | 2.83391466 |
| 82 | spinal cord motor neuron differentiation (GO:0021522) | 2.78697940 |
| 83 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 2.77343896 |
| 84 | microtubule nucleation (GO:0007020) | 2.72030508 |
| 85 | locomotory exploration behavior (GO:0035641) | 2.69530282 |
| 86 | nonmotile primary cilium assembly (GO:0035058) | 2.68810573 |
| 87 | cerebral cortex radially oriented cell migration (GO:0021799) | 2.67127671 |
| 88 | negative regulation of gene expression, epigenetic (GO:0045814) | 2.66625848 |
| 89 | neuronal ion channel clustering (GO:0045161) | 2.65744929 |
| 90 | negative regulation of inclusion body assembly (GO:0090084) | 2.64851795 |
| 91 | microtubule bundle formation (GO:0001578) | 2.62355888 |
| 92 | cilium organization (GO:0044782) | 2.62144563 |
| 93 | cilium assembly (GO:0042384) | 2.61694683 |
| 94 | protein-DNA complex disassembly (GO:0032986) | 2.59963198 |
| 95 | nucleosome disassembly (GO:0006337) | 2.59963198 |
| 96 | parturition (GO:0007567) | 2.53081637 |
| 97 | nucleobase catabolic process (GO:0046113) | 2.51966837 |
| 98 | phenylpropanoid metabolic process (GO:0009698) | 2.49625933 |
| 99 | DNA double-strand break processing (GO:0000729) | 2.45150153 |
| 100 | regulation of cilium assembly (GO:1902017) | 2.44614111 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.79969756 |
| 2 | ZNF274_21170338_ChIP-Seq_K562_Hela | 3.34679407 |
| 3 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.81105313 |
| 4 | VDR_22108803_ChIP-Seq_LS180_Human | 2.63764741 |
| 5 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.57448490 |
| 6 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.37702779 |
| 7 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.35309484 |
| 8 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.35309484 |
| 9 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.29693471 |
| 10 | IGF1R_20145208_ChIP-Seq_DFB_Human | 2.21914105 |
| 11 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.20785882 |
| 12 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.18460484 |
| 13 | FUS_26573619_Chip-Seq_HEK293_Human | 2.05681692 |
| 14 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.05274647 |
| 15 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.05274647 |
| 16 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.86213026 |
| 17 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.84038353 |
| 18 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.82957774 |
| 19 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.79748407 |
| 20 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.77305428 |
| 21 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.75337029 |
| 22 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.69594388 |
| 23 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.63771561 |
| 24 | ERA_21632823_ChIP-Seq_H3396_Human | 1.62771346 |
| 25 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.62008583 |
| 26 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.61371241 |
| 27 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.60181046 |
| 28 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.59039563 |
| 29 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.59033061 |
| 30 | P300_19829295_ChIP-Seq_ESCs_Human | 1.57457833 |
| 31 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.56681427 |
| 32 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.56305547 |
| 33 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.52880972 |
| 34 | AR_25329375_ChIP-Seq_VCAP_Human | 1.52664122 |
| 35 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.51866489 |
| 36 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.51385560 |
| 37 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.48465573 |
| 38 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.47672141 |
| 39 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.46205263 |
| 40 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.44456400 |
| 41 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.43626038 |
| 42 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.43071671 |
| 43 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.40902923 |
| 44 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.40555082 |
| 45 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.39389222 |
| 46 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.39171279 |
| 47 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.37580719 |
| 48 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.36349721 |
| 49 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.35926272 |
| 50 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.32138446 |
| 51 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.32054467 |
| 52 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.30810634 |
| 53 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.30693483 |
| 54 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.29053382 |
| 55 | TBL1_22424771_ChIP-Seq_293T_Human | 1.26937336 |
| 56 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.26247224 |
| 57 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.26181404 |
| 58 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.26075599 |
| 59 | NCOR_22424771_ChIP-Seq_293T_Human | 1.26032182 |
| 60 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.23306524 |
| 61 | NFYB_21822215_ChIP-Seq_K562_Human | 1.22933778 |
| 62 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.22198379 |
| 63 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.21711585 |
| 64 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.21515515 |
| 65 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.20232867 |
| 66 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.19811956 |
| 67 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 1.19226874 |
| 68 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.17257989 |
| 69 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.16537879 |
| 70 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.16510213 |
| 71 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.16403075 |
| 72 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.15733743 |
| 73 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.15559984 |
| 74 | P300_27268052_Chip-Seq_Bcells_Human | 1.14931707 |
| 75 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 1.14869445 |
| 76 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.14669966 |
| 77 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.13525683 |
| 78 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.13067697 |
| 79 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.12071565 |
| 80 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.11647900 |
| 81 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.11351391 |
| 82 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.11335285 |
| 83 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.10406738 |
| 84 | STAT3_23295773_ChIP-Seq_U87_Human | 1.10279799 |
| 85 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.09131854 |
| 86 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.08637746 |
| 87 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.08637746 |
| 88 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.07563167 |
| 89 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.07380668 |
| 90 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.07356122 |
| 91 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.06878847 |
| 92 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.06578442 |
| 93 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.05996571 |
| 94 | NFYA_21822215_ChIP-Seq_K562_Human | 1.05295709 |
| 95 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.05178469 |
| 96 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.03553166 |
| 97 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 1.02850870 |
| 98 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.01272636 |
| 99 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.00254372 |
| 100 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 0.99874311 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 7.11974809 |
| 2 | MP0006292_abnormal_olfactory_placode | 3.59919920 |
| 3 | MP0008789_abnormal_olfactory_epithelium | 3.22670779 |
| 4 | MP0003878_abnormal_ear_physiology | 2.95660009 |
| 5 | MP0005377_hearing/vestibular/ear_phenot | 2.95660009 |
| 6 | MP0003698_abnormal_male_reproductive | 2.94291399 |
| 7 | MP0005394_taste/olfaction_phenotype | 2.85514308 |
| 8 | MP0005499_abnormal_olfactory_system | 2.85514308 |
| 9 | MP0001929_abnormal_gametogenesis | 2.57654353 |
| 10 | MP0005670_abnormal_white_adipose | 2.37936345 |
| 11 | MP0002102_abnormal_ear_morphology | 2.34355438 |
| 12 | MP0001485_abnormal_pinna_reflex | 2.28602850 |
| 13 | MP0001529_abnormal_vocalization | 2.13594246 |
| 14 | MP0003011_delayed_dark_adaptation | 1.99475253 |
| 15 | MP0004859_abnormal_synaptic_plasticity | 1.91768167 |
| 16 | MP0003880_abnormal_central_pattern | 1.90781487 |
| 17 | MP0001984_abnormal_olfaction | 1.86810477 |
| 18 | MP0001348_abnormal_lacrimal_gland | 1.81678074 |
| 19 | MP0001486_abnormal_startle_reflex | 1.80217175 |
| 20 | MP0004742_abnormal_vestibular_system | 1.79715228 |
| 21 | MP0005551_abnormal_eye_electrophysiolog | 1.76707224 |
| 22 | MP0000049_abnormal_middle_ear | 1.68057616 |
| 23 | MP0005379_endocrine/exocrine_gland_phen | 1.67437539 |
| 24 | MP0008877_abnormal_DNA_methylation | 1.66018043 |
| 25 | MP0005423_abnormal_somatic_nervous | 1.64845362 |
| 26 | MP0001968_abnormal_touch/_nociception | 1.62705990 |
| 27 | MP0003718_maternal_effect | 1.61800060 |
| 28 | MP0003950_abnormal_plasma_membrane | 1.58161992 |
| 29 | MP0002822_catalepsy | 1.56813048 |
| 30 | MP0002161_abnormal_fertility/fecundity | 1.55717862 |
| 31 | MP0008995_early_reproductive_senescence | 1.54121616 |
| 32 | MP0006276_abnormal_autonomic_nervous | 1.47998977 |
| 33 | MP0002653_abnormal_ependyma_morphology | 1.46665064 |
| 34 | MP0003646_muscle_fatigue | 1.44717261 |
| 35 | MP0002210_abnormal_sex_determination | 1.44375137 |
| 36 | MP0000678_abnormal_parathyroid_gland | 1.43232241 |
| 37 | MP0003787_abnormal_imprinting | 1.38441425 |
| 38 | MP0000955_abnormal_spinal_cord | 1.37016635 |
| 39 | MP0002272_abnormal_nervous_system | 1.31447051 |
| 40 | MP0002557_abnormal_social/conspecific_i | 1.31353531 |
| 41 | MP0002733_abnormal_thermal_nociception | 1.27233259 |
| 42 | MP0005253_abnormal_eye_physiology | 1.25318837 |
| 43 | MP0000026_abnormal_inner_ear | 1.24854755 |
| 44 | MP0000749_muscle_degeneration | 1.16770487 |
| 45 | MP0002234_abnormal_pharynx_morphology | 1.16096021 |
| 46 | MP0001145_abnormal_male_reproductive | 1.15805860 |
| 47 | MP0001270_distended_abdomen | 1.12174804 |
| 48 | MP0002067_abnormal_sensory_capabilities | 1.12095136 |
| 49 | MP0001963_abnormal_hearing_physiology | 1.12053679 |
| 50 | MP0002127_abnormal_cardiovascular_syste | 1.11351175 |
| 51 | MP0002735_abnormal_chemical_nociception | 1.09571648 |
| 52 | MP0002132_abnormal_respiratory_system | 1.08599346 |
| 53 | MP0003938_abnormal_ear_development | 1.08363198 |
| 54 | MP0008775_abnormal_heart_ventricle | 1.08099313 |
| 55 | MP0002229_neurodegeneration | 1.07658408 |
| 56 | MP0000653_abnormal_sex_gland | 1.07285887 |
| 57 | MP0002184_abnormal_innervation | 1.05097308 |
| 58 | MP0004142_abnormal_muscle_tone | 1.03816616 |
| 59 | MP0002572_abnormal_emotion/affect_behav | 1.02271214 |
| 60 | MP0001970_abnormal_pain_threshold | 0.99773834 |
| 61 | MP0002160_abnormal_reproductive_system | 0.99544649 |
| 62 | MP0008004_abnormal_stomach_pH | 0.98739901 |
| 63 | MP0005645_abnormal_hypothalamus_physiol | 0.96700793 |
| 64 | MP0002736_abnormal_nociception_after | 0.96198612 |
| 65 | MP0009046_muscle_twitch | 0.95300291 |
| 66 | MP0006072_abnormal_retinal_apoptosis | 0.95163463 |
| 67 | MP0002282_abnormal_trachea_morphology | 0.93624515 |
| 68 | MP0002752_abnormal_somatic_nervous | 0.92548784 |
| 69 | MP0003635_abnormal_synaptic_transmissio | 0.92487050 |
| 70 | MP0001905_abnormal_dopamine_level | 0.92435384 |
| 71 | MP0002837_dystrophic_cardiac_calcinosis | 0.91832064 |
| 72 | MP0009745_abnormal_behavioral_response | 0.90637178 |
| 73 | MP0004084_abnormal_cardiac_muscle | 0.89508161 |
| 74 | MP0004270_analgesia | 0.87272322 |
| 75 | MP0005083_abnormal_biliary_tract | 0.87229624 |
| 76 | MP0002249_abnormal_larynx_morphology | 0.86788392 |
| 77 | MP0000778_abnormal_nervous_system | 0.84737069 |
| 78 | MP0005084_abnormal_gallbladder_morpholo | 0.84413860 |
| 79 | MP0001986_abnormal_taste_sensitivity | 0.83172908 |
| 80 | MP0003879_abnormal_hair_cell | 0.83051048 |
| 81 | MP0005248_abnormal_Harderian_gland | 0.82166720 |
| 82 | MP0002882_abnormal_neuron_morphology | 0.80907558 |
| 83 | MP0001501_abnormal_sleep_pattern | 0.79520077 |
| 84 | MP0005646_abnormal_pituitary_gland | 0.78170354 |
| 85 | MP0005391_vision/eye_phenotype | 0.72003309 |
| 86 | MP0008872_abnormal_physiological_respon | 0.71259297 |
| 87 | MP0000230_abnormal_systemic_arterial | 0.71231052 |
| 88 | MP0003122_maternal_imprinting | 0.68485773 |
| 89 | MP0002063_abnormal_learning/memory/cond | 0.68129717 |
| 90 | MP0001188_hyperpigmentation | 0.65136084 |
| 91 | MP0005389_reproductive_system_phenotype | 0.64508760 |
| 92 | MP0005332_abnormal_amino_acid | 0.64070387 |
| 93 | MP0001765_abnormal_ion_homeostasis | 0.63543180 |
| 94 | MP0001764_abnormal_homeostasis | 0.63108954 |
| 95 | MP0001293_anophthalmia | 0.60214701 |
| 96 | MP0009115_abnormal_fat_cell | 0.59230235 |
| 97 | MP0004085_abnormal_heartbeat | 0.57759955 |
| 98 | MP0004811_abnormal_neuron_physiology | 0.57599566 |
| 99 | MP0002734_abnormal_mechanical_nocicepti | 0.57574475 |
| 100 | MP0002269_muscular_atrophy | 0.57319504 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Chronic hepatic failure (HP:0100626) | 4.77078407 |
| 2 | Severe visual impairment (HP:0001141) | 4.65246462 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 4.61143967 |
| 4 | Absent/shortened dynein arms (HP:0200106) | 4.61143967 |
| 5 | Asymmetric septal hypertrophy (HP:0001670) | 4.45438840 |
| 6 | Tubulointerstitial nephritis (HP:0001970) | 4.33802751 |
| 7 | Attenuation of retinal blood vessels (HP:0007843) | 4.09781839 |
| 8 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.07171457 |
| 9 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.87954207 |
| 10 | Hypoplasia of the thymus (HP:0000778) | 3.84135706 |
| 11 | Abnormal ciliary motility (HP:0012262) | 3.75758045 |
| 12 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.45308603 |
| 13 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.39856953 |
| 14 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.39856953 |
| 15 | Retinal dysplasia (HP:0007973) | 3.23870708 |
| 16 | Resting tremor (HP:0002322) | 3.20746371 |
| 17 | Hand muscle atrophy (HP:0009130) | 3.13759820 |
| 18 | Nephronophthisis (HP:0000090) | 3.11895123 |
| 19 | Infertility (HP:0000789) | 2.87271675 |
| 20 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.83324954 |
| 21 | Male infertility (HP:0003251) | 2.82376410 |
| 22 | Calf muscle hypertrophy (HP:0008981) | 2.81569239 |
| 23 | Impulsivity (HP:0100710) | 2.71108956 |
| 24 | Progressive cerebellar ataxia (HP:0002073) | 2.64230045 |
| 25 | Abnormality of macular pigmentation (HP:0008002) | 2.63687255 |
| 26 | Muscle hypertrophy of the lower extremities (HP:0008968) | 2.62794307 |
| 27 | Exercise-induced myalgia (HP:0003738) | 2.59032563 |
| 28 | Abnormality of the renal medulla (HP:0100957) | 2.58662223 |
| 29 | Medial flaring of the eyebrow (HP:0010747) | 2.58176912 |
| 30 | Polydipsia (HP:0001959) | 2.53944668 |
| 31 | Abnormal drinking behavior (HP:0030082) | 2.53944668 |
| 32 | Molar tooth sign on MRI (HP:0002419) | 2.52069518 |
| 33 | Abnormality of midbrain morphology (HP:0002418) | 2.52069518 |
| 34 | Hyperkalemia (HP:0002153) | 2.51746596 |
| 35 | Failure to thrive in infancy (HP:0001531) | 2.47107288 |
| 36 | Upper limb muscle weakness (HP:0003484) | 2.39800351 |
| 37 | Myokymia (HP:0002411) | 2.36531799 |
| 38 | Type 2 muscle fiber atrophy (HP:0003554) | 2.35564949 |
| 39 | Poor suck (HP:0002033) | 2.35016098 |
| 40 | True hermaphroditism (HP:0010459) | 2.33879628 |
| 41 | Type II lissencephaly (HP:0007260) | 2.31443080 |
| 42 | Exercise-induced muscle cramps (HP:0003710) | 2.30828474 |
| 43 | Flat capital femoral epiphysis (HP:0003370) | 2.29650991 |
| 44 | Disproportionate short-trunk short stature (HP:0003521) | 2.25620245 |
| 45 | Pancreatic cysts (HP:0001737) | 2.25081224 |
| 46 | Postural instability (HP:0002172) | 2.24933076 |
| 47 | Keratoconus (HP:0000563) | 2.23387805 |
| 48 | Increased corneal curvature (HP:0100692) | 2.23387805 |
| 49 | Abnormality of dental color (HP:0011073) | 2.22894739 |
| 50 | Abnormality of the aortic arch (HP:0012303) | 2.20020105 |
| 51 | Optic nerve hypoplasia (HP:0000609) | 2.18288952 |
| 52 | Hypoplastic ischia (HP:0003175) | 2.17401213 |
| 53 | Tubulointerstitial abnormality (HP:0001969) | 2.16165953 |
| 54 | Muscle fiber atrophy (HP:0100295) | 2.15279631 |
| 55 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.13712013 |
| 56 | Inability to walk (HP:0002540) | 2.11330631 |
| 57 | Pendular nystagmus (HP:0012043) | 2.10897603 |
| 58 | Abnormal urine output (HP:0012590) | 2.10221510 |
| 59 | Growth hormone deficiency (HP:0000824) | 2.10184929 |
| 60 | Upper limb amyotrophy (HP:0009129) | 2.08585077 |
| 61 | Distal upper limb amyotrophy (HP:0007149) | 2.08585077 |
| 62 | Pancreatic fibrosis (HP:0100732) | 2.07217157 |
| 63 | Gait imbalance (HP:0002141) | 2.07052073 |
| 64 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.06622212 |
| 65 | Renal dysplasia (HP:0000110) | 2.05470143 |
| 66 | Polyuria (HP:0000103) | 2.05455725 |
| 67 | Myotonia (HP:0002486) | 2.04591455 |
| 68 | Cerebellar dysplasia (HP:0007033) | 2.02940785 |
| 69 | Osteomalacia (HP:0002749) | 2.02782650 |
| 70 | Abnormality of the renal cortex (HP:0011035) | 2.02542114 |
| 71 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 2.02354555 |
| 72 | Abolished electroretinogram (ERG) (HP:0000550) | 2.02345186 |
| 73 | Congenital primary aphakia (HP:0007707) | 2.01506718 |
| 74 | Cone-rod dystrophy (HP:0000548) | 2.01218726 |
| 75 | Occipital encephalocele (HP:0002085) | 1.99167302 |
| 76 | Congenital malformation of the right heart (HP:0011723) | 1.98175631 |
| 77 | Double outlet right ventricle (HP:0001719) | 1.98175631 |
| 78 | Flattened epiphyses (HP:0003071) | 1.97894585 |
| 79 | Polyphagia (HP:0002591) | 1.96844267 |
| 80 | Enlarged epiphyses (HP:0010580) | 1.96532367 |
| 81 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.94313063 |
| 82 | Hyperglycinemia (HP:0002154) | 1.92076100 |
| 83 | Intellectual disability, moderate (HP:0002342) | 1.91309493 |
| 84 | Hypophosphatemic rickets (HP:0004912) | 1.89864485 |
| 85 | Abnormality of renal excretion (HP:0011036) | 1.88550416 |
| 86 | Stage 5 chronic kidney disease (HP:0003774) | 1.88255039 |
| 87 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 1.84466553 |
| 88 | Abnormality of the femoral head (HP:0003368) | 1.84214290 |
| 89 | Poor coordination (HP:0002370) | 1.84182362 |
| 90 | Nephrogenic diabetes insipidus (HP:0009806) | 1.84066805 |
| 91 | Tubular atrophy (HP:0000092) | 1.83745367 |
| 92 | Facial shape deformation (HP:0011334) | 1.83163731 |
| 93 | Potter facies (HP:0002009) | 1.83163731 |
| 94 | Sclerocornea (HP:0000647) | 1.82807302 |
| 95 | Prolonged QT interval (HP:0001657) | 1.82482118 |
| 96 | Hypoplasia of the brainstem (HP:0002365) | 1.82385217 |
| 97 | Aplasia/Hypoplasia of the brainstem (HP:0007362) | 1.82385217 |
| 98 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.81046777 |
| 99 | Abnormality of the vertebral endplates (HP:0005106) | 1.80654572 |
| 100 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.79921492 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 5.77195668 |
| 2 | MAP4K2 | 4.97947060 |
| 3 | PINK1 | 3.18076676 |
| 4 | INSRR | 2.66805913 |
| 5 | PRKD3 | 2.63309276 |
| 6 | PLK2 | 2.35224761 |
| 7 | MAPKAPK5 | 2.25280759 |
| 8 | MAP2K7 | 2.19035898 |
| 9 | TESK1 | 2.04111377 |
| 10 | BMPR1B | 1.99433982 |
| 11 | DDR2 | 1.84369347 |
| 12 | PIK3CG | 1.81716560 |
| 13 | STK38 | 1.70413884 |
| 14 | ADRBK2 | 1.68428939 |
| 15 | BCKDK | 1.68230979 |
| 16 | MAPK13 | 1.66410425 |
| 17 | PNCK | 1.64662546 |
| 18 | MAP3K4 | 1.58448671 |
| 19 | CASK | 1.54441068 |
| 20 | STK38L | 1.53515532 |
| 21 | DYRK2 | 1.39247098 |
| 22 | SIK2 | 1.38324624 |
| 23 | BRD4 | 1.33200637 |
| 24 | WNK4 | 1.32449603 |
| 25 | CDK19 | 1.30209529 |
| 26 | CAMK1G | 1.30050966 |
| 27 | FRK | 1.26731855 |
| 28 | NTRK3 | 1.24452341 |
| 29 | STK16 | 1.24021703 |
| 30 | MAP3K9 | 1.22756603 |
| 31 | EPHA4 | 1.22504210 |
| 32 | CDK8 | 1.20714806 |
| 33 | MUSK | 1.20338024 |
| 34 | DYRK1B | 1.17174989 |
| 35 | CSNK1G3 | 1.14797656 |
| 36 | CSNK1A1L | 1.14747700 |
| 37 | MAPK15 | 1.11587332 |
| 38 | WNK3 | 1.07804745 |
| 39 | RPS6KA2 | 1.04371422 |
| 40 | DYRK3 | 1.03516284 |
| 41 | CSNK1G2 | 1.00276504 |
| 42 | PDK1 | 0.91574269 |
| 43 | DAPK2 | 0.90351770 |
| 44 | PRKCG | 0.90167191 |
| 45 | ZAK | 0.88476993 |
| 46 | MARK3 | 0.86007087 |
| 47 | MARK1 | 0.83601870 |
| 48 | PTK2B | 0.80071374 |
| 49 | CCNB1 | 0.79825123 |
| 50 | NEK6 | 0.78394279 |
| 51 | NUAK1 | 0.78261057 |
| 52 | CSNK1G1 | 0.77556048 |
| 53 | NTRK2 | 0.73454037 |
| 54 | GRK1 | 0.72249609 |
| 55 | MET | 0.71951505 |
| 56 | WNK1 | 0.71924663 |
| 57 | PDPK1 | 0.70478021 |
| 58 | MAP3K7 | 0.66403972 |
| 59 | MAP2K2 | 0.64450125 |
| 60 | MST1R | 0.64438086 |
| 61 | PRKAA2 | 0.64280749 |
| 62 | PHKG1 | 0.61689581 |
| 63 | PHKG2 | 0.61689581 |
| 64 | PKN1 | 0.61023356 |
| 65 | CDK7 | 0.59397418 |
| 66 | PAK3 | 0.57814999 |
| 67 | CDK3 | 0.56890954 |
| 68 | PRKG1 | 0.56692353 |
| 69 | PRKAA1 | 0.56619523 |
| 70 | TXK | 0.54575187 |
| 71 | EEF2K | 0.54172634 |
| 72 | NEK2 | 0.53063818 |
| 73 | RPS6KA1 | 0.51996420 |
| 74 | OBSCN | 0.51916126 |
| 75 | PRKCZ | 0.51871905 |
| 76 | PRKACB | 0.48991176 |
| 77 | SGK494 | 0.47300673 |
| 78 | SGK223 | 0.47300673 |
| 79 | CAMK1 | 0.47093006 |
| 80 | PRKCQ | 0.46530163 |
| 81 | MAPKAPK3 | 0.45692668 |
| 82 | TYRO3 | 0.45510503 |
| 83 | TESK2 | 0.45381927 |
| 84 | TNIK | 0.43198424 |
| 85 | CSNK1D | 0.42511355 |
| 86 | TIE1 | 0.41798654 |
| 87 | PRKG2 | 0.40168578 |
| 88 | CSNK1A1 | 0.38200303 |
| 89 | RPS6KA5 | 0.37525040 |
| 90 | PRKACA | 0.36547550 |
| 91 | STK39 | 0.35450917 |
| 92 | IKBKB | 0.35248560 |
| 93 | OXSR1 | 0.34868118 |
| 94 | TLK1 | 0.34271053 |
| 95 | TRIM28 | 0.33617523 |
| 96 | PRKCE | 0.32619872 |
| 97 | EPHB2 | 0.31797454 |
| 98 | VRK1 | 0.31276856 |
| 99 | MARK2 | 0.31234639 |
| 100 | RPS6KA6 | 0.30090260 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.57479161 |
| 2 | Olfactory transduction_Homo sapiens_hsa04740 | 3.48378179 |
| 3 | Butanoate metabolism_Homo sapiens_hsa00650 | 3.20721171 |
| 4 | Phototransduction_Homo sapiens_hsa04744 | 2.26713967 |
| 5 | Regulation of autophagy_Homo sapiens_hsa04140 | 2.06250608 |
| 6 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 2.02925920 |
| 7 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.93916689 |
| 8 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.93733036 |
| 9 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.92211849 |
| 10 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.86086891 |
| 11 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.78468192 |
| 12 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.73242744 |
| 13 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.72978894 |
| 14 | Nicotine addiction_Homo sapiens_hsa05033 | 1.69714938 |
| 15 | Taste transduction_Homo sapiens_hsa04742 | 1.63711353 |
| 16 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.59738551 |
| 17 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.57958184 |
| 18 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.56665333 |
| 19 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.49074779 |
| 20 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.36212408 |
| 21 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.35214888 |
| 22 | Basal transcription factors_Homo sapiens_hsa03022 | 1.34738311 |
| 23 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.33608594 |
| 24 | Peroxisome_Homo sapiens_hsa04146 | 1.33294895 |
| 25 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.33266242 |
| 26 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.32547911 |
| 27 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.23377164 |
| 28 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.21912144 |
| 29 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.18994893 |
| 30 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.17903583 |
| 31 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.17814681 |
| 32 | Sulfur relay system_Homo sapiens_hsa04122 | 1.13865807 |
| 33 | Morphine addiction_Homo sapiens_hsa05032 | 1.12404546 |
| 34 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.09520517 |
| 35 | Circadian entrainment_Homo sapiens_hsa04713 | 1.09291298 |
| 36 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.09124762 |
| 37 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.06463282 |
| 38 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.04759016 |
| 39 | GABAergic synapse_Homo sapiens_hsa04727 | 1.03890374 |
| 40 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 1.02604190 |
| 41 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.02049311 |
| 42 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.01128952 |
| 43 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.96664296 |
| 44 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.95052985 |
| 45 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.94273187 |
| 46 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.94207596 |
| 47 | Insulin secretion_Homo sapiens_hsa04911 | 0.94095044 |
| 48 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.91404391 |
| 49 | Retinol metabolism_Homo sapiens_hsa00830 | 0.90496637 |
| 50 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.89226082 |
| 51 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.88931852 |
| 52 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.88537593 |
| 53 | Parkinsons disease_Homo sapiens_hsa05012 | 0.88007835 |
| 54 | ABC transporters_Homo sapiens_hsa02010 | 0.87880341 |
| 55 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.86731984 |
| 56 | Huntingtons disease_Homo sapiens_hsa05016 | 0.84693353 |
| 57 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.82845772 |
| 58 | Salivary secretion_Homo sapiens_hsa04970 | 0.81041862 |
| 59 | Base excision repair_Homo sapiens_hsa03410 | 0.77942312 |
| 60 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.77340027 |
| 61 | RNA transport_Homo sapiens_hsa03013 | 0.77078335 |
| 62 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.76832734 |
| 63 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.75476972 |
| 64 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.74492816 |
| 65 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.72557808 |
| 66 | Lysine degradation_Homo sapiens_hsa00310 | 0.70785113 |
| 67 | Purine metabolism_Homo sapiens_hsa00230 | 0.69820225 |
| 68 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.63799792 |
| 69 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.63572033 |
| 70 | Renin secretion_Homo sapiens_hsa04924 | 0.63301291 |
| 71 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.62660012 |
| 72 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.61317040 |
| 73 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.59848072 |
| 74 | Metabolic pathways_Homo sapiens_hsa01100 | 0.59220641 |
| 75 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.57868332 |
| 76 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.57468038 |
| 77 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.55140623 |
| 78 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.53744798 |
| 79 | RNA degradation_Homo sapiens_hsa03018 | 0.53079863 |
| 80 | Endocytosis_Homo sapiens_hsa04144 | 0.52728439 |
| 81 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.51493182 |
| 82 | Long-term depression_Homo sapiens_hsa04730 | 0.50050737 |
| 83 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.48839949 |
| 84 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.48067521 |
| 85 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.45911044 |
| 86 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.43581869 |
| 87 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.42908819 |
| 88 | Phagosome_Homo sapiens_hsa04145 | 0.41364895 |
| 89 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.39127688 |
| 90 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.38887543 |
| 91 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.36018335 |
| 92 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.35961954 |
| 93 | Cocaine addiction_Homo sapiens_hsa05030 | 0.34812596 |
| 94 | Axon guidance_Homo sapiens_hsa04360 | 0.33073138 |
| 95 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.32961110 |
| 96 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.30882156 |
| 97 | Gap junction_Homo sapiens_hsa04540 | 0.30781661 |
| 98 | Viral myocarditis_Homo sapiens_hsa05416 | 0.30736854 |
| 99 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.30420050 |
| 100 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.29501906 |

