

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm capacitation (GO:0048240) | 9.72988775 |
| 2 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.40550281 |
| 3 | chromosome condensation (GO:0030261) | 8.55235923 |
| 4 | spermatid development (GO:0007286) | 8.48513575 |
| 5 | DNA packaging (GO:0006323) | 8.45542647 |
| 6 | single strand break repair (GO:0000012) | 8.12781454 |
| 7 | spermatid nucleus differentiation (GO:0007289) | 7.97379305 |
| 8 | multicellular organism reproduction (GO:0032504) | 7.77058353 |
| 9 | microtubule depolymerization (GO:0007019) | 7.35784342 |
| 10 | axonemal dynein complex assembly (GO:0070286) | 7.28260706 |
| 11 | sperm-egg recognition (GO:0035036) | 7.28030220 |
| 12 | plasma membrane fusion (GO:0045026) | 7.16594261 |
| 13 | reproduction (GO:0000003) | 7.03477250 |
| 14 | protein polyglutamylation (GO:0018095) | 6.89740320 |
| 15 | binding of sperm to zona pellucida (GO:0007339) | 6.74151905 |
| 16 | response to pheromone (GO:0019236) | 6.72555856 |
| 17 | rRNA methylation (GO:0031167) | 6.58039008 |
| 18 | microtubule severing (GO:0051013) | 6.52116925 |
| 19 | negative regulation of inclusion body assembly (GO:0090084) | 6.51580717 |
| 20 | calcium ion-dependent exocytosis (GO:0017156) | 6.45286955 |
| 21 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.33997724 |
| 22 | microtubule polymerization or depolymerization (GO:0031109) | 6.10063631 |
| 23 | sexual reproduction (GO:0019953) | 6.04880323 |
| 24 | spermatogenesis (GO:0007283) | 6.03702732 |
| 25 | male gamete generation (GO:0048232) | 6.01559537 |
| 26 | cell-cell recognition (GO:0009988) | 5.94169950 |
| 27 | regulation of cilium movement (GO:0003352) | 5.89437128 |
| 28 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.86653542 |
| 29 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.84000062 |
| 30 | centriole replication (GO:0007099) | 5.83705033 |
| 31 | protein targeting to Golgi (GO:0000042) | 5.67892389 |
| 32 | rRNA modification (GO:0000154) | 5.64924990 |
| 33 | gamete generation (GO:0007276) | 5.56879158 |
| 34 | epithelial cilium movement (GO:0003351) | 5.39052074 |
| 35 | establishment of protein localization to Golgi (GO:0072600) | 5.38196004 |
| 36 | motile cilium assembly (GO:0044458) | 5.35805632 |
| 37 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.32021812 |
| 38 | single fertilization (GO:0007338) | 5.15845537 |
| 39 | centriole assembly (GO:0098534) | 5.14501848 |
| 40 | cellular ketone body metabolic process (GO:0046950) | 5.06409185 |
| 41 | germ cell development (GO:0007281) | 5.02957798 |
| 42 | RNA destabilization (GO:0050779) | 4.98897275 |
| 43 | cilium movement (GO:0003341) | 4.88053412 |
| 44 | regulation of inclusion body assembly (GO:0090083) | 4.74849302 |
| 45 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.69035335 |
| 46 | nucleus organization (GO:0006997) | 4.67530496 |
| 47 | piRNA metabolic process (GO:0034587) | 4.66209867 |
| 48 | regulation of microtubule-based movement (GO:0060632) | 4.59725726 |
| 49 | positive regulation of Rab GTPase activity (GO:0032851) | 4.58069936 |
| 50 | regulation of Rab GTPase activity (GO:0032313) | 4.58069936 |
| 51 | fertilization (GO:0009566) | 4.57173828 |
| 52 | multicellular organismal reproductive process (GO:0048609) | 4.47105490 |
| 53 | ketone body metabolic process (GO:1902224) | 4.42667574 |
| 54 | response to acidic pH (GO:0010447) | 4.34448191 |
| 55 | regulation of female gonad development (GO:2000194) | 4.32567253 |
| 56 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.28895819 |
| 57 | DNA methylation involved in gamete generation (GO:0043046) | 4.21904411 |
| 58 | protein localization to Golgi apparatus (GO:0034067) | 4.07030376 |
| 59 | male meiosis I (GO:0007141) | 4.06428902 |
| 60 | polyamine biosynthetic process (GO:0006596) | 3.95677370 |
| 61 | organic cation transport (GO:0015695) | 3.83002145 |
| 62 | cerebral cortex neuron differentiation (GO:0021895) | 3.80475255 |
| 63 | cell wall macromolecule catabolic process (GO:0016998) | 3.79254072 |
| 64 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.78534067 |
| 65 | cellular response to pH (GO:0071467) | 3.76695374 |
| 66 | cell wall macromolecule metabolic process (GO:0044036) | 3.75769186 |
| 67 | regulation of centriole replication (GO:0046599) | 3.74207883 |
| 68 | chromatin silencing (GO:0006342) | 3.71522955 |
| 69 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.68170897 |
| 70 | histone H3-K9 demethylation (GO:0033169) | 3.53649481 |
| 71 | regulation of meiosis I (GO:0060631) | 3.44388614 |
| 72 | meiotic cell cycle (GO:0051321) | 3.36349231 |
| 73 | multicellular organismal movement (GO:0050879) | 3.33237488 |
| 74 | musculoskeletal movement (GO:0050881) | 3.33237488 |
| 75 | negative regulation of histone methylation (GO:0031061) | 3.27799400 |
| 76 | male meiosis (GO:0007140) | 3.24013859 |
| 77 | seminiferous tubule development (GO:0072520) | 3.19379911 |
| 78 | regulation of interleukin-13 production (GO:0032656) | 3.18543796 |
| 79 | mitochondrial fission (GO:0000266) | 3.17158232 |
| 80 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.15334686 |
| 81 | multicellular organismal development (GO:0007275) | 3.13464117 |
| 82 | meiosis I (GO:0007127) | 3.11116358 |
| 83 | protein-DNA complex disassembly (GO:0032986) | 3.09130475 |
| 84 | nucleosome disassembly (GO:0006337) | 3.09130475 |
| 85 | coenzyme catabolic process (GO:0009109) | 3.04098403 |
| 86 | histone exchange (GO:0043486) | 2.93493624 |
| 87 | chaperone-mediated protein complex assembly (GO:0051131) | 2.91569404 |
| 88 | homeostasis of number of cells within a tissue (GO:0048873) | 2.91195262 |
| 89 | vesicle transport along microtubule (GO:0047496) | 2.87378151 |
| 90 | genitalia morphogenesis (GO:0035112) | 2.86597420 |
| 91 | oocyte development (GO:0048599) | 2.86379950 |
| 92 | cranial nerve morphogenesis (GO:0021602) | 2.84927053 |
| 93 | ventricular system development (GO:0021591) | 2.84830075 |
| 94 | microtubule nucleation (GO:0007020) | 2.83021463 |
| 95 | cell recognition (GO:0008037) | 2.82756665 |
| 96 | Golgi to endosome transport (GO:0006895) | 2.80879383 |
| 97 | protein depolymerization (GO:0051261) | 2.74823791 |
| 98 | regulation of histone H3-K9 methylation (GO:0051570) | 2.71199259 |
| 99 | sperm motility (GO:0030317) | 11.4863061 |
| 100 | acrosome reaction (GO:0007340) | 11.2075123 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 5.19592101 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 5.12038720 |
| 3 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.15956555 |
| 4 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.00040478 |
| 5 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.88058707 |
| 6 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.36509553 |
| 7 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.36509553 |
| 8 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 2.19993798 |
| 9 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.11881611 |
| 10 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.09767567 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.09767567 |
| 12 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.05017828 |
| 13 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.02330722 |
| 14 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.98970706 |
| 15 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.90884126 |
| 16 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.86383811 |
| 17 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.85976397 |
| 18 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.83230602 |
| 19 | ERA_21632823_ChIP-Seq_H3396_Human | 1.75533725 |
| 20 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.71001176 |
| 21 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.70386741 |
| 22 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.68956459 |
| 23 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.68721906 |
| 24 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.67925260 |
| 25 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.65780261 |
| 26 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.64422905 |
| 27 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.59438052 |
| 28 | FUS_26573619_Chip-Seq_HEK293_Human | 1.58978864 |
| 29 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.58705860 |
| 30 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.58463731 |
| 31 | AR_25329375_ChIP-Seq_VCAP_Human | 1.57566876 |
| 32 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.57501285 |
| 33 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.56724666 |
| 34 | P68_20966046_ChIP-Seq_HELA_Human | 1.56526649 |
| 35 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.55610792 |
| 36 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.55428033 |
| 37 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.52785602 |
| 38 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.52242121 |
| 39 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.51706496 |
| 40 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.50407019 |
| 41 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.50339248 |
| 42 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.45540173 |
| 43 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.45256912 |
| 44 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.44829758 |
| 45 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.44543588 |
| 46 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.43039439 |
| 47 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.42470617 |
| 48 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.40365016 |
| 49 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.39866101 |
| 50 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.39371901 |
| 51 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.37351552 |
| 52 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.36239155 |
| 53 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.35564184 |
| 54 | P300_27268052_Chip-Seq_Bcells_Human | 1.32514477 |
| 55 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.31058018 |
| 56 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.30242138 |
| 57 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.29124097 |
| 58 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.27724430 |
| 59 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.27718263 |
| 60 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.27046863 |
| 61 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.26302337 |
| 62 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.23380117 |
| 63 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.23315054 |
| 64 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.22228842 |
| 65 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.22207657 |
| 66 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.21820385 |
| 67 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.19280320 |
| 68 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.18323110 |
| 69 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.17485269 |
| 70 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.17131178 |
| 71 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.16957745 |
| 72 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.16683355 |
| 73 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.16538833 |
| 74 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.15699937 |
| 75 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.15158899 |
| 76 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.14345081 |
| 77 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.14132801 |
| 78 | P300_19829295_ChIP-Seq_ESCs_Human | 1.13779314 |
| 79 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.12078390 |
| 80 | TBL1_22424771_ChIP-Seq_293T_Human | 1.11995144 |
| 81 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.11780136 |
| 82 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.11741301 |
| 83 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.11098890 |
| 84 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.10658810 |
| 85 | NFYB_21822215_ChIP-Seq_K562_Human | 1.09871616 |
| 86 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.09115915 |
| 87 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.06371741 |
| 88 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.05918886 |
| 89 | OCT4_19829295_ChIP-Seq_ESCs_Human | 1.05093757 |
| 90 | STAT3_23295773_ChIP-Seq_U87_Human | 1.04526016 |
| 91 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.01737183 |
| 92 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.00962781 |
| 93 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.00829841 |
| 94 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 0.99766058 |
| 95 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 0.99515516 |
| 96 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 0.99499398 |
| 97 | KLF4_19829295_ChIP-Seq_ESCs_Human | 0.99336645 |
| 98 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.97546723 |
| 99 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 0.97295971 |
| 100 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 0.97054605 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 4.52718033 |
| 2 | MP0001929_abnormal_gametogenesis | 4.20585158 |
| 3 | MP0005670_abnormal_white_adipose | 4.06089257 |
| 4 | MP0003878_abnormal_ear_physiology | 4.05542373 |
| 5 | MP0005377_hearing/vestibular/ear_phenot | 4.05542373 |
| 6 | MP0003718_maternal_effect | 3.70741467 |
| 7 | MP0001348_abnormal_lacrimal_gland | 3.05477204 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.79069704 |
| 9 | MP0002210_abnormal_sex_determination | 2.48937264 |
| 10 | MP0000678_abnormal_parathyroid_gland | 2.44430901 |
| 11 | MP0008877_abnormal_DNA_methylation | 2.33393116 |
| 12 | MP0005423_abnormal_somatic_nervous | 2.18281477 |
| 13 | MP0002234_abnormal_pharynx_morphology | 2.08227058 |
| 14 | MP0002822_catalepsy | 2.04049219 |
| 15 | MP0005410_abnormal_fertilization | 11.3132242 |
| 16 | MP0000653_abnormal_sex_gland | 1.86375764 |
| 17 | MP0001145_abnormal_male_reproductive | 1.85259310 |
| 18 | MP0002735_abnormal_chemical_nociception | 1.83572645 |
| 19 | MP0003879_abnormal_hair_cell | 1.76602541 |
| 20 | MP0004859_abnormal_synaptic_plasticity | 1.63769809 |
| 21 | MP0006292_abnormal_olfactory_placode | 1.60009664 |
| 22 | MP0003646_muscle_fatigue | 1.56889751 |
| 23 | MP0005395_other_phenotype | 1.56538558 |
| 24 | MP0001486_abnormal_startle_reflex | 1.51315621 |
| 25 | MP0002132_abnormal_respiratory_system | 1.47738893 |
| 26 | MP0002249_abnormal_larynx_morphology | 1.36812117 |
| 27 | MP0001968_abnormal_touch/_nociception | 1.36717614 |
| 28 | MP0002138_abnormal_hepatobiliary_system | 1.21870189 |
| 29 | MP0005451_abnormal_body_composition | 1.21277027 |
| 30 | MP0005310_abnormal_salivary_gland | 1.18016580 |
| 31 | MP0003011_delayed_dark_adaptation | 1.17352779 |
| 32 | MP0001485_abnormal_pinna_reflex | 1.17084743 |
| 33 | MP0002272_abnormal_nervous_system | 1.16355329 |
| 34 | MP0003880_abnormal_central_pattern | 1.13870245 |
| 35 | MP0001765_abnormal_ion_homeostasis | 1.12114504 |
| 36 | MP0008789_abnormal_olfactory_epithelium | 1.09662448 |
| 37 | MP0004742_abnormal_vestibular_system | 1.09244778 |
| 38 | MP0005551_abnormal_eye_electrophysiolog | 1.08639351 |
| 39 | MP0001984_abnormal_olfaction | 1.08231250 |
| 40 | MP0001963_abnormal_hearing_physiology | 1.06450419 |
| 41 | MP0009745_abnormal_behavioral_response | 1.05711630 |
| 42 | MP0002734_abnormal_mechanical_nocicepti | 1.05299500 |
| 43 | MP0000534_abnormal_ureter_morphology | 1.03167807 |
| 44 | MP0005379_endocrine/exocrine_gland_phen | 1.02649582 |
| 45 | MP0001905_abnormal_dopamine_level | 1.02317252 |
| 46 | MP0003699_abnormal_female_reproductive | 1.01644679 |
| 47 | MP0002067_abnormal_sensory_capabilities | 0.97326534 |
| 48 | MP0002557_abnormal_social/conspecific_i | 0.93556796 |
| 49 | MP0003077_abnormal_cell_cycle | 0.92805457 |
| 50 | MP0002572_abnormal_emotion/affect_behav | 0.92645507 |
| 51 | MP0000955_abnormal_spinal_cord | 0.92292772 |
| 52 | MP0002282_abnormal_trachea_morphology | 0.92275141 |
| 53 | MP0002127_abnormal_cardiovascular_syste | 0.91206609 |
| 54 | MP0005499_abnormal_olfactory_system | 0.91145472 |
| 55 | MP0005394_taste/olfaction_phenotype | 0.91145472 |
| 56 | MP0002229_neurodegeneration | 0.91123857 |
| 57 | MP0008569_lethality_at_weaning | 0.90978978 |
| 58 | MP0000026_abnormal_inner_ear | 0.90097174 |
| 59 | MP0003635_abnormal_synaptic_transmissio | 0.89566793 |
| 60 | MP0002160_abnormal_reproductive_system | 0.85214304 |
| 61 | MP0000566_synostosis | 0.83775298 |
| 62 | MP0005647_abnormal_sex_gland | 0.74723490 |
| 63 | MP0005248_abnormal_Harderian_gland | 0.74216007 |
| 64 | MP0000049_abnormal_middle_ear | 0.72693843 |
| 65 | MP0005666_abnormal_adipose_tissue | 0.71791212 |
| 66 | MP0002733_abnormal_thermal_nociception | 0.71060075 |
| 67 | MP0001440_abnormal_grooming_behavior | 0.70639053 |
| 68 | MP0004233_abnormal_muscle_weight | 0.70502503 |
| 69 | MP0009053_abnormal_anal_canal | 0.68579143 |
| 70 | MP0009046_muscle_twitch | 0.66024022 |
| 71 | MP0001970_abnormal_pain_threshold | 0.63810141 |
| 72 | MP0009697_abnormal_copulation | 0.63760000 |
| 73 | MP0009115_abnormal_fat_cell | 0.63662254 |
| 74 | MP0000681_abnormal_thyroid_gland | 0.63160000 |
| 75 | MP0001666_abnormal_nutrient_absorption | 0.58337567 |
| 76 | MP0002063_abnormal_learning/memory/cond | 0.57881433 |
| 77 | MP0003119_abnormal_digestive_system | 0.57838182 |
| 78 | MP0002064_seizures | 0.57270968 |
| 79 | MP0006276_abnormal_autonomic_nervous | 0.56507021 |
| 80 | MP0003693_abnormal_embryo_hatching | 0.54679166 |
| 81 | MP0002653_abnormal_ependyma_morphology | 0.54342383 |
| 82 | MP0005636_abnormal_mineral_homeostasis | 0.54154844 |
| 83 | MP0008995_early_reproductive_senescence | 0.52666893 |
| 84 | MP0004270_analgesia | 0.50854357 |
| 85 | MP0001119_abnormal_female_reproductive | 0.50275458 |
| 86 | MP0004085_abnormal_heartbeat | 0.49960613 |
| 87 | MP0005375_adipose_tissue_phenotype | 0.49023165 |
| 88 | MP0005253_abnormal_eye_physiology | 0.48415724 |
| 89 | MP0003936_abnormal_reproductive_system | 0.46499369 |
| 90 | MP0005389_reproductive_system_phenotype | 0.46440193 |
| 91 | MP0003631_nervous_system_phenotype | 0.45268525 |
| 92 | MP0002882_abnormal_neuron_morphology | 0.44618224 |
| 93 | MP0001188_hyperpigmentation | 0.44230428 |
| 94 | MP0003861_abnormal_nervous_system | 0.42718571 |
| 95 | MP0001529_abnormal_vocalization | 0.42076009 |
| 96 | MP0005646_abnormal_pituitary_gland | 0.41653776 |
| 97 | MP0001501_abnormal_sleep_pattern | 0.41579135 |
| 98 | MP0003633_abnormal_nervous_system | 0.38595408 |
| 99 | MP0004811_abnormal_neuron_physiology | 0.38250347 |
| 100 | MP0002928_abnormal_bile_duct | 0.36149967 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.17535532 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.44357893 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 6.44357893 |
| 4 | Abnormal ciliary motility (HP:0012262) | 5.88624836 |
| 5 | Abnormal respiratory motile cilium physiology (HP:0012261) | 5.72684889 |
| 6 | Abnormal respiratory epithelium morphology (HP:0012253) | 5.56164815 |
| 7 | Abnormal respiratory motile cilium morphology (HP:0005938) | 5.56164815 |
| 8 | Male infertility (HP:0003251) | 5.27189591 |
| 9 | Tubulointerstitial nephritis (HP:0001970) | 5.22839427 |
| 10 | Infertility (HP:0000789) | 5.16079137 |
| 11 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.97023373 |
| 12 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.85589874 |
| 13 | Attenuation of retinal blood vessels (HP:0007843) | 4.46164881 |
| 14 | Chronic hepatic failure (HP:0100626) | 4.43156159 |
| 15 | Hyperkalemia (HP:0002153) | 4.30822956 |
| 16 | Rhinitis (HP:0012384) | 4.20546334 |
| 17 | Nasal polyposis (HP:0100582) | 4.19136394 |
| 18 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.02968116 |
| 19 | Resting tremor (HP:0002322) | 3.95502139 |
| 20 | Asymmetric septal hypertrophy (HP:0001670) | 3.84717566 |
| 21 | Myokymia (HP:0002411) | 3.83821125 |
| 22 | Azoospermia (HP:0000027) | 3.81335414 |
| 23 | Bell-shaped thorax (HP:0001591) | 3.78150221 |
| 24 | Abnormality of macular pigmentation (HP:0008002) | 3.76089769 |
| 25 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.74419430 |
| 26 | Impulsivity (HP:0100710) | 3.72314187 |
| 27 | Cone-rod dystrophy (HP:0000548) | 3.67556111 |
| 28 | Abnormal spermatogenesis (HP:0008669) | 3.51556391 |
| 29 | Nephronophthisis (HP:0000090) | 3.29542791 |
| 30 | Potter facies (HP:0002009) | 3.24659865 |
| 31 | Facial shape deformation (HP:0011334) | 3.24659865 |
| 32 | Abnormality of the nasal mucosa (HP:0000433) | 3.24630599 |
| 33 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.94643790 |
| 34 | Osteomalacia (HP:0002749) | 2.89027219 |
| 35 | Sensory axonal neuropathy (HP:0003390) | 2.88926707 |
| 36 | Generalized aminoaciduria (HP:0002909) | 2.87462280 |
| 37 | Postural instability (HP:0002172) | 2.85036071 |
| 38 | Progressive sensorineural hearing impairment (HP:0000408) | 2.75452354 |
| 39 | Bronchiectasis (HP:0002110) | 2.74532505 |
| 40 | Hypoplasia of the thymus (HP:0000778) | 2.71260400 |
| 41 | Hypoplastic ischia (HP:0003175) | 2.70043159 |
| 42 | Truncal obesity (HP:0001956) | 2.64246953 |
| 43 | Chronic bronchitis (HP:0004469) | 2.63479032 |
| 44 | Abnormality of the renal medulla (HP:0100957) | 2.63451311 |
| 45 | Enlarged epiphyses (HP:0010580) | 2.61480717 |
| 46 | Hypophosphatemic rickets (HP:0004912) | 2.57634773 |
| 47 | Tubulointerstitial abnormality (HP:0001969) | 2.51348110 |
| 48 | Hypoalphalipoproteinemia (HP:0003233) | 2.49553109 |
| 49 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.47493720 |
| 50 | Menstrual irregularities (HP:0000858) | 2.47317132 |
| 51 | Renovascular hypertension (HP:0100817) | 2.46220021 |
| 52 | Progressive cerebellar ataxia (HP:0002073) | 2.44612334 |
| 53 | Abnormal urine output (HP:0012590) | 2.35804883 |
| 54 | Abnormality of the ischium (HP:0003174) | 2.32583140 |
| 55 | Abnormality of potassium homeostasis (HP:0011042) | 2.32450984 |
| 56 | Renal dysplasia (HP:0000110) | 2.32365167 |
| 57 | Abnormality of the aortic arch (HP:0012303) | 2.24996531 |
| 58 | Unilateral renal agenesis (HP:0000122) | 2.24077263 |
| 59 | Stage 5 chronic kidney disease (HP:0003774) | 2.22675021 |
| 60 | Abnormality of abdominal situs (HP:0011620) | 2.22192736 |
| 61 | Abdominal situs inversus (HP:0003363) | 2.22192736 |
| 62 | Renal Fanconi syndrome (HP:0001994) | 2.21724776 |
| 63 | Amelogenesis imperfecta (HP:0000705) | 2.16644751 |
| 64 | Congenital malformation of the right heart (HP:0011723) | 2.15193643 |
| 65 | Double outlet right ventricle (HP:0001719) | 2.15193643 |
| 66 | Abnormal drinking behavior (HP:0030082) | 2.14197581 |
| 67 | Polydipsia (HP:0001959) | 2.14197581 |
| 68 | Abnormality of renal excretion (HP:0011036) | 2.08701376 |
| 69 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.02682936 |
| 70 | Occipital encephalocele (HP:0002085) | 1.94633138 |
| 71 | Portal hypertension (HP:0001409) | 1.92589815 |
| 72 | Abnormality of the costochondral junction (HP:0000919) | 1.91173491 |
| 73 | Spastic paraparesis (HP:0002313) | 1.90803398 |
| 74 | Polyuria (HP:0000103) | 1.88352363 |
| 75 | Abnormality of dental color (HP:0011073) | 1.86751297 |
| 76 | Hyponatremia (HP:0002902) | 1.82382824 |
| 77 | Horizontal nystagmus (HP:0000666) | 1.81499611 |
| 78 | Short ribs (HP:0000773) | 1.80309998 |
| 79 | Atelectasis (HP:0100750) | 1.79996216 |
| 80 | Progressive hearing impairment (HP:0001730) | 1.79358329 |
| 81 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.77120780 |
| 82 | Hyperuricemia (HP:0002149) | 1.75673167 |
| 83 | Increased purine levels (HP:0004368) | 1.75673167 |
| 84 | Optic nerve hypoplasia (HP:0000609) | 1.75562862 |
| 85 | Abnormality of the hepatic vasculature (HP:0006707) | 1.74374288 |
| 86 | Anterior segment dysgenesis (HP:0007700) | 1.73989698 |
| 87 | Peripheral hypomyelination (HP:0007182) | 1.73767287 |
| 88 | Decreased central vision (HP:0007663) | 1.72905465 |
| 89 | Recurrent pneumonia (HP:0006532) | 1.65638592 |
| 90 | Median cleft lip (HP:0000161) | 1.64635015 |
| 91 | Photophobia (HP:0000613) | 1.64432019 |
| 92 | Glycosuria (HP:0003076) | 1.62136575 |
| 93 | Abnormality of urine glucose concentration (HP:0011016) | 1.62136575 |
| 94 | Intellectual disability, moderate (HP:0002342) | 1.62031992 |
| 95 | Upper limb muscle weakness (HP:0003484) | 1.60233089 |
| 96 | Transposition of the great arteries (HP:0001669) | 1.59415169 |
| 97 | Abnormal connection of the cardiac segments (HP:0011545) | 1.59415169 |
| 98 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.59415169 |
| 99 | Abnormality of renal resorption (HP:0011038) | 1.58872065 |
| 100 | Chronic sinusitis (HP:0011109) | 1.58300564 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 6.82014995 |
| 2 | TESK1 | 6.15002153 |
| 3 | STK38 | 4.15996558 |
| 4 | PNCK | 3.97977562 |
| 5 | DDR2 | 3.84554602 |
| 6 | PRKD3 | 2.91784061 |
| 7 | MAP3K9 | 2.91063517 |
| 8 | CAMK1G | 2.68796883 |
| 9 | MAPK15 | 2.62322481 |
| 10 | STK38L | 2.45125126 |
| 11 | PLK2 | 2.44881526 |
| 12 | ARAF | 2.29481784 |
| 13 | INSRR | 2.24876278 |
| 14 | MAP4K2 | 2.10970120 |
| 15 | NEK6 | 2.09633118 |
| 16 | MST1R | 2.05550603 |
| 17 | BRD4 | 1.94487810 |
| 18 | MAP3K13 | 1.70766959 |
| 19 | KSR2 | 1.70641978 |
| 20 | PDPK1 | 1.61151170 |
| 21 | BRAF | 1.57232562 |
| 22 | CDK7 | 1.54694962 |
| 23 | PDK1 | 1.49061412 |
| 24 | PTK2B | 1.33723317 |
| 25 | MET | 1.29364289 |
| 26 | SIK2 | 1.27292696 |
| 27 | CDK12 | 1.26758613 |
| 28 | WNK1 | 1.24977678 |
| 29 | DYRK1B | 1.09271502 |
| 30 | AKT3 | 1.05940575 |
| 31 | MAP3K4 | 1.01951747 |
| 32 | LATS2 | 0.94427606 |
| 33 | WNK4 | 0.92245245 |
| 34 | CAMK1D | 0.87805878 |
| 35 | CASK | 0.86416577 |
| 36 | STK39 | 0.85009813 |
| 37 | BMPR1B | 0.83906779 |
| 38 | TYRO3 | 0.75968796 |
| 39 | PRKG1 | 0.67829242 |
| 40 | CAMK1 | 0.65841058 |
| 41 | PRKCZ | 0.65514857 |
| 42 | MAP3K8 | 0.64167715 |
| 43 | AURKA | 0.63382044 |
| 44 | MUSK | 0.62115578 |
| 45 | CDK2 | 0.60603319 |
| 46 | MAP3K2 | 0.60004969 |
| 47 | PIK3CG | 0.57097032 |
| 48 | PRKCG | 0.57071231 |
| 49 | UHMK1 | 0.56355330 |
| 50 | RPS6KA2 | 0.55946521 |
| 51 | NTRK3 | 0.55525217 |
| 52 | RPS6KA1 | 0.52885403 |
| 53 | BRSK1 | 0.51639310 |
| 54 | GSK3B | 0.51579333 |
| 55 | MARK1 | 0.51348818 |
| 56 | RIPK4 | 0.50341255 |
| 57 | MAP2K2 | 0.50054191 |
| 58 | MOS | 0.49941782 |
| 59 | MAP3K11 | 0.49863239 |
| 60 | CDK1 | 0.49244734 |
| 61 | MAP3K1 | 0.47463588 |
| 62 | PRKG2 | 0.45672470 |
| 63 | MTOR | 0.45076125 |
| 64 | TESK2 | 0.44455398 |
| 65 | NTRK2 | 0.40903084 |
| 66 | SGK1 | 0.39155611 |
| 67 | CHEK1 | 0.37805585 |
| 68 | SGK223 | 0.37115846 |
| 69 | SGK494 | 0.37115846 |
| 70 | ACVR1B | 0.36335383 |
| 71 | MAPK1 | 0.34472997 |
| 72 | CAMK4 | 0.33813502 |
| 73 | MAPK8 | 0.33804057 |
| 74 | CAMKK1 | 0.32394277 |
| 75 | MINK1 | 0.31898809 |
| 76 | GRK7 | 0.29501339 |
| 77 | CAMK2A | 0.29123821 |
| 78 | PRKAA2 | 0.28803782 |
| 79 | ROCK1 | 0.27999734 |
| 80 | CDK3 | 0.26294496 |
| 81 | MAPK10 | 0.25101699 |
| 82 | MAPK14 | 0.25068150 |
| 83 | CDK9 | 0.21510055 |
| 84 | MARK2 | 0.21172548 |
| 85 | PRKCI | 0.20870135 |
| 86 | MAP2K1 | 0.20773947 |
| 87 | PLK1 | 0.20555748 |
| 88 | CAMKK2 | 0.20288889 |
| 89 | OXSR1 | 0.18467145 |
| 90 | NEK2 | 0.18284228 |
| 91 | TNIK | 0.18096452 |
| 92 | PRKCB | 0.17884002 |
| 93 | CDK19 | 0.16406397 |
| 94 | LATS1 | 0.15817691 |
| 95 | CDK4 | 0.15318813 |
| 96 | TNK2 | 0.15211897 |
| 97 | MAP2K7 | 0.14600890 |
| 98 | PRKACA | 0.14567543 |
| 99 | PRKACB | 0.14337338 |
| 100 | PRKCQ | 0.14069867 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.87705669 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.74299948 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.46944199 |
| 4 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.38828605 |
| 5 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.18601428 |
| 6 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.01749197 |
| 7 | Basal transcription factors_Homo sapiens_hsa03022 | 1.93132659 |
| 8 | RNA transport_Homo sapiens_hsa03013 | 1.87664200 |
| 9 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.81975413 |
| 10 | Nicotine addiction_Homo sapiens_hsa05033 | 1.75843098 |
| 11 | Taste transduction_Homo sapiens_hsa04742 | 1.71531490 |
| 12 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.69160654 |
| 13 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.62815549 |
| 14 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.45749193 |
| 15 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.44742929 |
| 16 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.42884286 |
| 17 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.41692840 |
| 18 | Phototransduction_Homo sapiens_hsa04744 | 1.39879730 |
| 19 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.38963422 |
| 20 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.36012981 |
| 21 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.29226211 |
| 22 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.28743911 |
| 23 | Morphine addiction_Homo sapiens_hsa05032 | 1.27752318 |
| 24 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.27137257 |
| 25 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.21887635 |
| 26 | ABC transporters_Homo sapiens_hsa02010 | 1.21763681 |
| 27 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.18262626 |
| 28 | Circadian entrainment_Homo sapiens_hsa04713 | 1.10953649 |
| 29 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.06840976 |
| 30 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.05556737 |
| 31 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.05006721 |
| 32 | Huntingtons disease_Homo sapiens_hsa05016 | 1.04862817 |
| 33 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.04636007 |
| 34 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.02884743 |
| 35 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.02789610 |
| 36 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.90034838 |
| 37 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.89185524 |
| 38 | Salivary secretion_Homo sapiens_hsa04970 | 0.88149701 |
| 39 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.87225514 |
| 40 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.86754428 |
| 41 | Endocytosis_Homo sapiens_hsa04144 | 0.84876894 |
| 42 | GABAergic synapse_Homo sapiens_hsa04727 | 0.83946679 |
| 43 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.83159546 |
| 44 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.82825503 |
| 45 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.78735315 |
| 46 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.78136351 |
| 47 | Long-term potentiation_Homo sapiens_hsa04720 | 0.76300070 |
| 48 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.75641919 |
| 49 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.71996140 |
| 50 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.71347683 |
| 51 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.71062888 |
| 52 | Insulin secretion_Homo sapiens_hsa04911 | 0.70522780 |
| 53 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.70087813 |
| 54 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.70079376 |
| 55 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.69832843 |
| 56 | Purine metabolism_Homo sapiens_hsa00230 | 0.69039380 |
| 57 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.68150382 |
| 58 | Cell cycle_Homo sapiens_hsa04110 | 0.65211093 |
| 59 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.62406608 |
| 60 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.62329244 |
| 61 | Bile secretion_Homo sapiens_hsa04976 | 0.61417500 |
| 62 | Base excision repair_Homo sapiens_hsa03410 | 0.60355471 |
| 63 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.60008527 |
| 64 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.57728603 |
| 65 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.57343486 |
| 66 | Cocaine addiction_Homo sapiens_hsa05030 | 0.56907722 |
| 67 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.55826196 |
| 68 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.55743071 |
| 69 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.55288193 |
| 70 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.53999821 |
| 71 | Tight junction_Homo sapiens_hsa04530 | 0.53145421 |
| 72 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.53016192 |
| 73 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.52722581 |
| 74 | Circadian rhythm_Homo sapiens_hsa04710 | 0.51818979 |
| 75 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.50509217 |
| 76 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.48004035 |
| 77 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.43466833 |
| 78 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.40509408 |
| 79 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.36264889 |
| 80 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.35193976 |
| 81 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.35085009 |
| 82 | Renin secretion_Homo sapiens_hsa04924 | 0.34924514 |
| 83 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.31420485 |
| 84 | Metabolic pathways_Homo sapiens_hsa01100 | 0.30786740 |
| 85 | Long-term depression_Homo sapiens_hsa04730 | 0.30675207 |
| 86 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.30052828 |
| 87 | Allograft rejection_Homo sapiens_hsa05330 | 0.29847210 |
| 88 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.27998257 |
| 89 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.27871788 |
| 90 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.25715269 |
| 91 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.25316717 |
| 92 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.24307463 |
| 93 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.23638951 |
| 94 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.22736239 |
| 95 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.22391228 |
| 96 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.22173852 |
| 97 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.21528355 |
| 98 | Retinol metabolism_Homo sapiens_hsa00830 | 0.21255888 |
| 99 | RNA polymerase_Homo sapiens_hsa03020 | 0.21156670 |
| 100 | Gap junction_Homo sapiens_hsa04540 | 0.21142462 |

