

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.61747412 |
| 2 | microtubule depolymerization (GO:0007019) | 9.23914063 |
| 3 | DNA packaging (GO:0006323) | 9.15265097 |
| 4 | response to pheromone (GO:0019236) | 8.75400276 |
| 5 | sperm capacitation (GO:0048240) | 8.64869214 |
| 6 | plasma membrane fusion (GO:0045026) | 8.46547817 |
| 7 | spermatid development (GO:0007286) | 7.97004826 |
| 8 | single strand break repair (GO:0000012) | 7.76294084 |
| 9 | spermatid nucleus differentiation (GO:0007289) | 7.67222494 |
| 10 | protein targeting to Golgi (GO:0000042) | 7.58021321 |
| 11 | sperm-egg recognition (GO:0035036) | 7.44986511 |
| 12 | establishment of protein localization to Golgi (GO:0072600) | 7.32745374 |
| 13 | protein polyglutamylation (GO:0018095) | 7.30014417 |
| 14 | microtubule polymerization or depolymerization (GO:0031109) | 7.26209204 |
| 15 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.99795660 |
| 16 | multicellular organism reproduction (GO:0032504) | 6.95389548 |
| 17 | binding of sperm to zona pellucida (GO:0007339) | 6.88949876 |
| 18 | negative regulation of inclusion body assembly (GO:0090084) | 6.53303897 |
| 19 | reproduction (GO:0000003) | 6.47156187 |
| 20 | rRNA methylation (GO:0031167) | 6.46971721 |
| 21 | calcium ion-dependent exocytosis (GO:0017156) | 6.28957572 |
| 22 | spermatogenesis (GO:0007283) | 6.21334440 |
| 23 | male gamete generation (GO:0048232) | 6.19616039 |
| 24 | cell-cell recognition (GO:0009988) | 6.07360499 |
| 25 | sexual reproduction (GO:0019953) | 6.05200288 |
| 26 | axonemal dynein complex assembly (GO:0070286) | 5.89446531 |
| 27 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.82231362 |
| 28 | microtubule severing (GO:0051013) | 5.75723102 |
| 29 | gamete generation (GO:0007276) | 5.70768045 |
| 30 | centriole replication (GO:0007099) | 5.69375953 |
| 31 | rRNA modification (GO:0000154) | 5.60198767 |
| 32 | protein localization to Golgi apparatus (GO:0034067) | 5.43926676 |
| 33 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.31386383 |
| 34 | cellular ketone body metabolic process (GO:0046950) | 5.11484160 |
| 35 | regulation of cilium movement (GO:0003352) | 5.03306480 |
| 36 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.92866533 |
| 37 | centriole assembly (GO:0098534) | 4.89265767 |
| 38 | regulation of centriole replication (GO:0046599) | 4.88141749 |
| 39 | positive regulation of Rab GTPase activity (GO:0032851) | 4.85820699 |
| 40 | regulation of Rab GTPase activity (GO:0032313) | 4.85820699 |
| 41 | single fertilization (GO:0007338) | 4.82605754 |
| 42 | motile cilium assembly (GO:0044458) | 4.64392026 |
| 43 | regulation of inclusion body assembly (GO:0090083) | 4.64018505 |
| 44 | germ cell development (GO:0007281) | 4.62767638 |
| 45 | multicellular organismal reproductive process (GO:0048609) | 4.54718996 |
| 46 | chromatin silencing (GO:0006342) | 4.52711185 |
| 47 | ketone body metabolic process (GO:1902224) | 4.49989514 |
| 48 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.35357877 |
| 49 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.35350053 |
| 50 | seminiferous tubule development (GO:0072520) | 4.32114678 |
| 51 | epithelial cilium movement (GO:0003351) | 4.16506413 |
| 52 | fertilization (GO:0009566) | 4.15979729 |
| 53 | RNA destabilization (GO:0050779) | 4.15526270 |
| 54 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.11271429 |
| 55 | cell wall macromolecule catabolic process (GO:0016998) | 4.05356984 |
| 56 | nucleus organization (GO:0006997) | 4.04017096 |
| 57 | piRNA metabolic process (GO:0034587) | 4.03200854 |
| 58 | glycerol ether metabolic process (GO:0006662) | 3.99242443 |
| 59 | microtubule nucleation (GO:0007020) | 3.88010313 |
| 60 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.85951499 |
| 61 | coenzyme catabolic process (GO:0009109) | 3.82401776 |
| 62 | cell wall macromolecule metabolic process (GO:0044036) | 3.80214526 |
| 63 | ether metabolic process (GO:0018904) | 3.68960403 |
| 64 | protein depolymerization (GO:0051261) | 3.67040672 |
| 65 | cilium movement (GO:0003341) | 3.64818620 |
| 66 | regulation of microtubule-based movement (GO:0060632) | 3.60015610 |
| 67 | multicellular organismal movement (GO:0050879) | 3.56320282 |
| 68 | musculoskeletal movement (GO:0050881) | 3.56320282 |
| 69 | DNA methylation involved in gamete generation (GO:0043046) | 3.53037208 |
| 70 | glomerular visceral epithelial cell development (GO:0072015) | 3.34138151 |
| 71 | histone H3-K9 demethylation (GO:0033169) | 3.29259821 |
| 72 | organic cation transport (GO:0015695) | 3.28691686 |
| 73 | polyamine biosynthetic process (GO:0006596) | 3.26919922 |
| 74 | male meiosis I (GO:0007141) | 3.25376971 |
| 75 | male meiosis (GO:0007140) | 3.19938903 |
| 76 | glomerular epithelial cell development (GO:0072310) | 3.18889305 |
| 77 | receptor recycling (GO:0001881) | 3.13335017 |
| 78 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.09528289 |
| 79 | multicellular organismal development (GO:0007275) | 3.08043612 |
| 80 | DNA conformation change (GO:0071103) | 3.05054770 |
| 81 | negative regulation of gene expression, epigenetic (GO:0045814) | 2.98785638 |
| 82 | nucleosome disassembly (GO:0006337) | 2.97722119 |
| 83 | protein-DNA complex disassembly (GO:0032986) | 2.97722119 |
| 84 | response to acidic pH (GO:0010447) | 2.94890274 |
| 85 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.94867453 |
| 86 | cellular response to pH (GO:0071467) | 2.94360251 |
| 87 | histone exchange (GO:0043486) | 2.93476680 |
| 88 | cerebral cortex neuron differentiation (GO:0021895) | 2.92555243 |
| 89 | negative regulation of histone methylation (GO:0031061) | 2.90674060 |
| 90 | intra-Golgi vesicle-mediated transport (GO:0006891) | 2.89760748 |
| 91 | cell recognition (GO:0008037) | 2.88599223 |
| 92 | regulation of interleukin-13 production (GO:0032656) | 2.84690498 |
| 93 | regulation of meiosis I (GO:0060631) | 2.83884005 |
| 94 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 2.81967335 |
| 95 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 2.81967335 |
| 96 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.78127462 |
| 97 | cranial nerve morphogenesis (GO:0021602) | 2.73073076 |
| 98 | acrosome reaction (GO:0007340) | 11.6498360 |
| 99 | sperm motility (GO:0030317) | 11.2435730 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.1020696 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.43947520 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.20505886 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.61649098 |
| 4 | FUS_26573619_Chip-Seq_HEK293_Human | 2.48465041 |
| 5 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.48416434 |
| 6 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.48416434 |
| 7 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.42773829 |
| 8 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.40215546 |
| 9 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.34242377 |
| 10 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.32414449 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.19787181 |
| 12 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.19787181 |
| 13 | ERA_21632823_ChIP-Seq_H3396_Human | 2.01470720 |
| 14 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 2.01111860 |
| 15 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.96806430 |
| 16 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.90553357 |
| 17 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.90253275 |
| 18 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.88372817 |
| 19 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.86393475 |
| 20 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.83392895 |
| 21 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.82613945 |
| 22 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.81845148 |
| 23 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.81198656 |
| 24 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.78151711 |
| 25 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.73535543 |
| 26 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.73207268 |
| 27 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.71542853 |
| 28 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.69586853 |
| 29 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.68586797 |
| 30 | * MYC_19829295_ChIP-Seq_ESCs_Human | 1.65934571 |
| 31 | VDR_22108803_ChIP-Seq_LS180_Human | 1.64398505 |
| 32 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.64325985 |
| 33 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.62623820 |
| 34 | AR_25329375_ChIP-Seq_VCAP_Human | 1.62513757 |
| 35 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.61653084 |
| 36 | P300_19829295_ChIP-Seq_ESCs_Human | 1.54929044 |
| 37 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.54845864 |
| 38 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.53630596 |
| 39 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.51422831 |
| 40 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.50403852 |
| 41 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.48679830 |
| 42 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.47220180 |
| 43 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.46579609 |
| 44 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.46058108 |
| 45 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.45193574 |
| 46 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.45159010 |
| 47 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.43903564 |
| 48 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.39672745 |
| 49 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.38356490 |
| 50 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.37865504 |
| 51 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.36814715 |
| 52 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.36448065 |
| 53 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.36448065 |
| 54 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.36423684 |
| 55 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.35659921 |
| 56 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.34775446 |
| 57 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.32762621 |
| 58 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.31297976 |
| 59 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.30983250 |
| 60 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.29987057 |
| 61 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.29458984 |
| 62 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.29323113 |
| 63 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.29310914 |
| 64 | P300_27268052_Chip-Seq_Bcells_Human | 1.27280826 |
| 65 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.26669818 |
| 66 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.26659305 |
| 67 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.26529606 |
| 68 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.25666028 |
| 69 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.24951179 |
| 70 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.24483314 |
| 71 | STAT3_23295773_ChIP-Seq_U87_Human | 1.23093834 |
| 72 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.21523300 |
| 73 | P68_20966046_ChIP-Seq_HELA_Human | 1.21209848 |
| 74 | NFYB_21822215_ChIP-Seq_K562_Human | 1.21157620 |
| 75 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.20740832 |
| 76 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.20740832 |
| 77 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.18575674 |
| 78 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.16597723 |
| 79 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.15569631 |
| 80 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.15469358 |
| 81 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.15416972 |
| 82 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.13780452 |
| 83 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.13516678 |
| 84 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.11757793 |
| 85 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.11697370 |
| 86 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.10003111 |
| 87 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.09751473 |
| 88 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.09185520 |
| 89 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.08609156 |
| 90 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.07240842 |
| 91 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.07147362 |
| 92 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.05456633 |
| 93 | TBL1_22424771_ChIP-Seq_293T_Human | 1.05214565 |
| 94 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.03756015 |
| 95 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.02877899 |
| 96 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.01928906 |
| 97 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.01914630 |
| 98 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.01794840 |
| 99 | NFYA_21822215_ChIP-Seq_K562_Human | 0.99834935 |
| 100 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.99126130 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005377_hearing/vestibular/ear_phenot | 4.56249332 |
| 2 | MP0003878_abnormal_ear_physiology | 4.56249332 |
| 3 | MP0003698_abnormal_male_reproductive | 4.36725868 |
| 4 | MP0003011_delayed_dark_adaptation | 4.35361747 |
| 5 | MP0005670_abnormal_white_adipose | 4.21075856 |
| 6 | MP0001929_abnormal_gametogenesis | 3.90018049 |
| 7 | MP0005083_abnormal_biliary_tract | 2.90891795 |
| 8 | MP0001348_abnormal_lacrimal_gland | 2.88130011 |
| 9 | MP0003718_maternal_effect | 2.61577462 |
| 10 | MP0002161_abnormal_fertility/fecundity | 2.43552807 |
| 11 | MP0003646_muscle_fatigue | 2.40000174 |
| 12 | MP0002234_abnormal_pharynx_morphology | 2.38500115 |
| 13 | MP0000678_abnormal_parathyroid_gland | 2.33353346 |
| 14 | MP0005379_endocrine/exocrine_gland_phen | 2.28639104 |
| 15 | MP0002210_abnormal_sex_determination | 2.02659447 |
| 16 | MP0008877_abnormal_DNA_methylation | 2.01015324 |
| 17 | MP0005410_abnormal_fertilization | 11.3759848 |
| 18 | MP0001145_abnormal_male_reproductive | 1.67216238 |
| 19 | MP0002132_abnormal_respiratory_system | 1.63012327 |
| 20 | MP0000653_abnormal_sex_gland | 1.55782299 |
| 21 | MP0005084_abnormal_gallbladder_morpholo | 1.49886162 |
| 22 | MP0005253_abnormal_eye_physiology | 1.37591603 |
| 23 | MP0005310_abnormal_salivary_gland | 1.34169364 |
| 24 | MP0002282_abnormal_trachea_morphology | 1.32207472 |
| 25 | MP0002249_abnormal_larynx_morphology | 1.28613590 |
| 26 | MP0001486_abnormal_startle_reflex | 1.27017034 |
| 27 | MP0009053_abnormal_anal_canal | 1.20626164 |
| 28 | MP0005551_abnormal_eye_electrophysiolog | 1.18384151 |
| 29 | MP0005395_other_phenotype | 1.17502766 |
| 30 | MP0004510_myositis | 1.16076446 |
| 31 | MP0000534_abnormal_ureter_morphology | 1.13503317 |
| 32 | MP0002928_abnormal_bile_duct | 1.12228199 |
| 33 | MP0005423_abnormal_somatic_nervous | 1.10164143 |
| 34 | MP0004859_abnormal_synaptic_plasticity | 1.09437941 |
| 35 | MP0001485_abnormal_pinna_reflex | 1.09312716 |
| 36 | MP0002127_abnormal_cardiovascular_syste | 1.09156707 |
| 37 | MP0002138_abnormal_hepatobiliary_system | 1.08659416 |
| 38 | MP0008995_early_reproductive_senescence | 1.00243605 |
| 39 | MP0002638_abnormal_pupillary_reflex | 0.98575163 |
| 40 | MP0005365_abnormal_bile_salt | 0.97145232 |
| 41 | MP0005085_abnormal_gallbladder_physiolo | 0.93893130 |
| 42 | MP0001765_abnormal_ion_homeostasis | 0.92177592 |
| 43 | MP0001963_abnormal_hearing_physiology | 0.91607816 |
| 44 | MP0000026_abnormal_inner_ear | 0.91031692 |
| 45 | MP0001879_abnormal_lymphatic_vessel | 0.90371295 |
| 46 | MP0001764_abnormal_homeostasis | 0.88683191 |
| 47 | MP0004742_abnormal_vestibular_system | 0.86730963 |
| 48 | MP0003693_abnormal_embryo_hatching | 0.85680366 |
| 49 | MP0000049_abnormal_middle_ear | 0.81976513 |
| 50 | MP0003077_abnormal_cell_cycle | 0.80491683 |
| 51 | MP0001968_abnormal_touch/_nociception | 0.78714665 |
| 52 | MP0004957_abnormal_blastocyst_morpholog | 0.78274224 |
| 53 | MP0000955_abnormal_spinal_cord | 0.77840618 |
| 54 | MP0010368_abnormal_lymphatic_system | 0.75940988 |
| 55 | MP0002735_abnormal_chemical_nociception | 0.75141101 |
| 56 | MP0002229_neurodegeneration | 0.75082280 |
| 57 | MP0005451_abnormal_body_composition | 0.74337299 |
| 58 | MP0003879_abnormal_hair_cell | 0.71816061 |
| 59 | MP0002653_abnormal_ependyma_morphology | 0.68610245 |
| 60 | MP0006072_abnormal_retinal_apoptosis | 0.67403505 |
| 61 | MP0000681_abnormal_thyroid_gland | 0.65825238 |
| 62 | MP0009115_abnormal_fat_cell | 0.65450255 |
| 63 | MP0006292_abnormal_olfactory_placode | 0.64147517 |
| 64 | MP0000516_abnormal_urinary_system | 0.62371594 |
| 65 | MP0005367_renal/urinary_system_phenotyp | 0.62371594 |
| 66 | MP0002160_abnormal_reproductive_system | 0.61084383 |
| 67 | MP0001905_abnormal_dopamine_level | 0.60283106 |
| 68 | MP0005391_vision/eye_phenotype | 0.60119028 |
| 69 | MP0005248_abnormal_Harderian_gland | 0.59708517 |
| 70 | MP0003137_abnormal_impulse_conducting | 0.58428928 |
| 71 | MP0002067_abnormal_sensory_capabilities | 0.56251272 |
| 72 | MP0004085_abnormal_heartbeat | 0.55196073 |
| 73 | MP0005623_abnormal_meninges_morphology | 0.54765294 |
| 74 | MP0002733_abnormal_thermal_nociception | 0.54445547 |
| 75 | MP0003936_abnormal_reproductive_system | 0.53678699 |
| 76 | MP0003119_abnormal_digestive_system | 0.53354871 |
| 77 | MP0001529_abnormal_vocalization | 0.52727689 |
| 78 | MP0002572_abnormal_emotion/affect_behav | 0.51554976 |
| 79 | MP0005167_abnormal_blood-brain_barrier | 0.51063736 |
| 80 | MP0003699_abnormal_female_reproductive | 0.49365573 |
| 81 | MP0009697_abnormal_copulation | 0.49172282 |
| 82 | MP0000569_abnormal_digit_pigmentation | 0.47657974 |
| 83 | MP0001666_abnormal_nutrient_absorption | 0.47494271 |
| 84 | MP0002557_abnormal_social/conspecific_i | 0.46974516 |
| 85 | MP0002932_abnormal_joint_morphology | 0.46834751 |
| 86 | MP0005647_abnormal_sex_gland | 0.45656539 |
| 87 | MP0001299_abnormal_eye_distance/ | 0.44416913 |
| 88 | MP0002272_abnormal_nervous_system | 0.43356326 |
| 89 | MP0008961_abnormal_basal_metabolism | 0.43210597 |
| 90 | MP0005666_abnormal_adipose_tissue | 0.42802596 |
| 91 | MP0004484_altered_response_of | 0.41719121 |
| 92 | MP0000566_synostosis | 0.40635447 |
| 93 | MP0001293_anophthalmia | 0.39035167 |
| 94 | MP0005636_abnormal_mineral_homeostasis | 0.38833129 |
| 95 | MP0009384_cardiac_valve_regurgitation | 0.38604611 |
| 96 | MP0000249_abnormal_blood_vessel | 0.37655851 |
| 97 | MP0002752_abnormal_somatic_nervous | 0.37625006 |
| 98 | MP0002269_muscular_atrophy | 0.36451543 |
| 99 | MP0008569_lethality_at_weaning | 0.36286925 |
| 100 | MP0008789_abnormal_olfactory_epithelium | 0.35812576 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.57085621 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.77379581 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.77379581 |
| 4 | Chronic hepatic failure (HP:0100626) | 5.25993992 |
| 5 | Attenuation of retinal blood vessels (HP:0007843) | 5.06912766 |
| 6 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.06113770 |
| 7 | Tubulointerstitial nephritis (HP:0001970) | 4.91254500 |
| 8 | Azoospermia (HP:0000027) | 4.53327222 |
| 9 | Abnormal spermatogenesis (HP:0008669) | 4.50877577 |
| 10 | Resting tremor (HP:0002322) | 4.49646609 |
| 11 | Asymmetric septal hypertrophy (HP:0001670) | 4.48380403 |
| 12 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.42286008 |
| 13 | Abnormal ciliary motility (HP:0012262) | 4.31964076 |
| 14 | Hyperkalemia (HP:0002153) | 4.27839073 |
| 15 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.17045752 |
| 16 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.17045752 |
| 17 | Infertility (HP:0000789) | 4.04663736 |
| 18 | Male infertility (HP:0003251) | 4.02575512 |
| 19 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.98806350 |
| 20 | Hypoplastic ischia (HP:0003175) | 3.95603407 |
| 21 | Bell-shaped thorax (HP:0001591) | 3.79100737 |
| 22 | Cone-rod dystrophy (HP:0000548) | 3.78946920 |
| 23 | Abnormality of macular pigmentation (HP:0008002) | 3.76781514 |
| 24 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.75910986 |
| 25 | Nasal polyposis (HP:0100582) | 3.54311374 |
| 26 | Enlarged epiphyses (HP:0010580) | 3.52816487 |
| 27 | Nephronophthisis (HP:0000090) | 3.48614272 |
| 28 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.48384209 |
| 29 | Abnormality of the ischium (HP:0003174) | 3.46226980 |
| 30 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.42516787 |
| 31 | Potter facies (HP:0002009) | 3.23927886 |
| 32 | Facial shape deformation (HP:0011334) | 3.23927886 |
| 33 | Impulsivity (HP:0100710) | 3.09850261 |
| 34 | Progressive sensorineural hearing impairment (HP:0000408) | 3.02700678 |
| 35 | Generalized aminoaciduria (HP:0002909) | 2.97927323 |
| 36 | Abnormality of the nasal mucosa (HP:0000433) | 2.97567758 |
| 37 | Stage 5 chronic kidney disease (HP:0003774) | 2.87048345 |
| 38 | Abnormality of the renal medulla (HP:0100957) | 2.85305964 |
| 39 | Rhinitis (HP:0012384) | 2.76709471 |
| 40 | Hypoplasia of the thymus (HP:0000778) | 2.76610874 |
| 41 | Unilateral renal agenesis (HP:0000122) | 2.75487972 |
| 42 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.75407463 |
| 43 | Postural instability (HP:0002172) | 2.74014860 |
| 44 | Amelogenesis imperfecta (HP:0000705) | 2.73934392 |
| 45 | Abnormality of potassium homeostasis (HP:0011042) | 2.58087493 |
| 46 | Abnormal urine output (HP:0012590) | 2.56805605 |
| 47 | Hypoalphalipoproteinemia (HP:0003233) | 2.56006279 |
| 48 | Truncal obesity (HP:0001956) | 2.55960725 |
| 49 | Progressive cerebellar ataxia (HP:0002073) | 2.51564986 |
| 50 | Portal hypertension (HP:0001409) | 2.48646136 |
| 51 | Menstrual irregularities (HP:0000858) | 2.45229379 |
| 52 | Renal dysplasia (HP:0000110) | 2.41770429 |
| 53 | Abnormality of the aortic arch (HP:0012303) | 2.35296117 |
| 54 | Tubulointerstitial abnormality (HP:0001969) | 2.34773762 |
| 55 | Abnormality of the costochondral junction (HP:0000919) | 2.34079402 |
| 56 | Renovascular hypertension (HP:0100817) | 2.32705695 |
| 57 | Hand muscle atrophy (HP:0009130) | 2.29221998 |
| 58 | Abnormality of dental color (HP:0011073) | 2.25452367 |
| 59 | Flattened epiphyses (HP:0003071) | 2.25428597 |
| 60 | Abnormal drinking behavior (HP:0030082) | 2.25253699 |
| 61 | Polydipsia (HP:0001959) | 2.25253699 |
| 62 | Abnormality of the hepatic vasculature (HP:0006707) | 2.24661682 |
| 63 | Abnormality of renal excretion (HP:0011036) | 2.20287814 |
| 64 | Chronic bronchitis (HP:0004469) | 2.19244261 |
| 65 | Intellectual disability, moderate (HP:0002342) | 2.19040324 |
| 66 | Double outlet right ventricle (HP:0001719) | 2.19020104 |
| 67 | Congenital malformation of the right heart (HP:0011723) | 2.19020104 |
| 68 | Osteomalacia (HP:0002749) | 2.18401011 |
| 69 | Horizontal nystagmus (HP:0000666) | 2.14586898 |
| 70 | Polyuria (HP:0000103) | 2.13085916 |
| 71 | True hermaphroditism (HP:0010459) | 2.10344521 |
| 72 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.09889450 |
| 73 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.03399570 |
| 74 | Bronchiectasis (HP:0002110) | 2.01854315 |
| 75 | Muscle fiber atrophy (HP:0100295) | 1.99157689 |
| 76 | Abnormality of the parathyroid morphology (HP:0011766) | 1.97678208 |
| 77 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.95928320 |
| 78 | Abnormality of the pubic bones (HP:0003172) | 1.95266756 |
| 79 | Absent epiphyses (HP:0010577) | 1.93959306 |
| 80 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.93959306 |
| 81 | Abnormality of the neuromuscular junction (HP:0003398) | 1.91142620 |
| 82 | Fatigable weakness (HP:0003473) | 1.91142620 |
| 83 | Volvulus (HP:0002580) | 1.88830750 |
| 84 | Occipital encephalocele (HP:0002085) | 1.86712570 |
| 85 | Photophobia (HP:0000613) | 1.84182821 |
| 86 | Tubular atrophy (HP:0000092) | 1.83274428 |
| 87 | Type 2 muscle fiber atrophy (HP:0003554) | 1.82654289 |
| 88 | Hypophosphatemic rickets (HP:0004912) | 1.81973928 |
| 89 | Tetany (HP:0001281) | 1.81837575 |
| 90 | Hyponatremia (HP:0002902) | 1.81797425 |
| 91 | Flat capital femoral epiphysis (HP:0003370) | 1.81706710 |
| 92 | Focal segmental glomerulosclerosis (HP:0000097) | 1.81630545 |
| 93 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.81591746 |
| 94 | Abnormality of femoral epiphyses (HP:0006499) | 1.81591746 |
| 95 | Progressive hearing impairment (HP:0001730) | 1.81169999 |
| 96 | Pancreatic fibrosis (HP:0100732) | 1.79788724 |
| 97 | Renal Fanconi syndrome (HP:0001994) | 1.77228441 |
| 98 | Hyperuricemia (HP:0002149) | 1.76599290 |
| 99 | Increased purine levels (HP:0004368) | 1.76599290 |
| 100 | Ventricular tachycardia (HP:0004756) | 1.72363541 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.19102516 |
| 2 | TESK1 | 6.28820805 |
| 3 | DDR2 | 4.19111236 |
| 4 | INSRR | 3.94040114 |
| 5 | PNCK | 3.68324129 |
| 6 | MAP4K2 | 3.36711218 |
| 7 | PLK2 | 3.03097188 |
| 8 | BRD4 | 2.95415757 |
| 9 | STK38 | 2.61015275 |
| 10 | CAMK1G | 2.48370690 |
| 11 | PRKD3 | 2.15697441 |
| 12 | STK38L | 2.14370752 |
| 13 | PIK3CG | 1.93491908 |
| 14 | MAPK15 | 1.83146722 |
| 15 | MST1R | 1.65255475 |
| 16 | NEK6 | 1.63727818 |
| 17 | WNK1 | 1.63502853 |
| 18 | NME1 | 1.61692157 |
| 19 | PTK2B | 1.52836470 |
| 20 | MAP3K9 | 1.33828002 |
| 21 | CDK7 | 1.30037940 |
| 22 | PDPK1 | 1.22898712 |
| 23 | PDK1 | 1.14302804 |
| 24 | CDK12 | 1.08062604 |
| 25 | BRAF | 1.05235399 |
| 26 | BRSK2 | 1.03538487 |
| 27 | BRSK1 | 0.99986535 |
| 28 | MUSK | 0.90180887 |
| 29 | DYRK1B | 0.85554494 |
| 30 | DYRK3 | 0.83965250 |
| 31 | MET | 0.80847313 |
| 32 | CAMK1D | 0.79051614 |
| 33 | ARAF | 0.77727981 |
| 34 | BMPR1B | 0.66663075 |
| 35 | PRKAA2 | 0.65080608 |
| 36 | LATS1 | 0.62672277 |
| 37 | FRK | 0.60703802 |
| 38 | CAMK1 | 0.60217717 |
| 39 | NUAK1 | 0.60067293 |
| 40 | STK39 | 0.57041311 |
| 41 | PRKG2 | 0.56890456 |
| 42 | SIK2 | 0.56763957 |
| 43 | TESK2 | 0.54466542 |
| 44 | ROCK1 | 0.53981155 |
| 45 | PRKG1 | 0.53762190 |
| 46 | KSR2 | 0.53299882 |
| 47 | MAP3K8 | 0.52317325 |
| 48 | CDK4 | 0.50296593 |
| 49 | CDK1 | 0.49987027 |
| 50 | WNK4 | 0.48374436 |
| 51 | UHMK1 | 0.47601058 |
| 52 | AKT3 | 0.46904664 |
| 53 | CDK19 | 0.45710205 |
| 54 | TIE1 | 0.45448840 |
| 55 | TAF1 | 0.43591345 |
| 56 | CAMK4 | 0.42431914 |
| 57 | CDK2 | 0.42036616 |
| 58 | RPS6KA1 | 0.41844720 |
| 59 | LIMK1 | 0.40349532 |
| 60 | CHEK1 | 0.40295763 |
| 61 | TRIM28 | 0.37382742 |
| 62 | RPS6KA2 | 0.37041914 |
| 63 | GSK3B | 0.36824342 |
| 64 | AURKA | 0.36753051 |
| 65 | TYRO3 | 0.36097510 |
| 66 | MAP2K2 | 0.35263896 |
| 67 | NEK2 | 0.34721823 |
| 68 | CDK3 | 0.33525261 |
| 69 | PRKCG | 0.33428960 |
| 70 | MARK2 | 0.33384118 |
| 71 | MAPK1 | 0.32982981 |
| 72 | PLK1 | 0.32345690 |
| 73 | MAP3K2 | 0.32141386 |
| 74 | MARK1 | 0.31206751 |
| 75 | MAP3K4 | 0.30619906 |
| 76 | CAMKK2 | 0.30500691 |
| 77 | ACVR1B | 0.29776651 |
| 78 | OXSR1 | 0.28728356 |
| 79 | MAP3K11 | 0.24608328 |
| 80 | TAOK3 | 0.22978047 |
| 81 | MAPK11 | 0.22920968 |
| 82 | MAPK14 | 0.22909915 |
| 83 | RPS6KA6 | 0.22679827 |
| 84 | LATS2 | 0.22318522 |
| 85 | MAP2K7 | 0.22175943 |
| 86 | MAPK8 | 0.21306230 |
| 87 | WNK3 | 0.21075756 |
| 88 | RPS6KL1 | 0.21056120 |
| 89 | RPS6KC1 | 0.21056120 |
| 90 | ABL2 | 0.19852161 |
| 91 | PRKCB | 0.19342734 |
| 92 | MTOR | 0.18795275 |
| 93 | PRKCZ | 0.18692258 |
| 94 | MKNK2 | 0.17859433 |
| 95 | SGK223 | 0.16659847 |
| 96 | SGK494 | 0.16659847 |
| 97 | MAPK10 | 0.16368092 |
| 98 | VRK1 | 0.16084903 |
| 99 | STK3 | 0.14659649 |
| 100 | NTRK3 | 0.14197933 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.22050220 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 6.18932437 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 4.03363800 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.60054624 |
| 5 | RNA transport_Homo sapiens_hsa03013 | 2.37153167 |
| 6 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.81224749 |
| 7 | Taste transduction_Homo sapiens_hsa04742 | 1.75898656 |
| 8 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.75020100 |
| 9 | Phototransduction_Homo sapiens_hsa04744 | 1.61519957 |
| 10 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.56429704 |
| 11 | Basal transcription factors_Homo sapiens_hsa03022 | 1.52472995 |
| 12 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.48671956 |
| 13 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.46584166 |
| 14 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.45984108 |
| 15 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.43502665 |
| 16 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.42906574 |
| 17 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.42890458 |
| 18 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.42390577 |
| 19 | Allograft rejection_Homo sapiens_hsa05330 | 1.37924263 |
| 20 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.37355359 |
| 21 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.36273435 |
| 22 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.36042371 |
| 23 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.32883794 |
| 24 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.31082450 |
| 25 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.26425691 |
| 26 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.23963953 |
| 27 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.21629925 |
| 28 | Salivary secretion_Homo sapiens_hsa04970 | 1.18179774 |
| 29 | Endocytosis_Homo sapiens_hsa04144 | 1.15247226 |
| 30 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.14213925 |
| 31 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.12371946 |
| 32 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.12357684 |
| 33 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.11321952 |
| 34 | Retinol metabolism_Homo sapiens_hsa00830 | 1.08429223 |
| 35 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.04531281 |
| 36 | Viral myocarditis_Homo sapiens_hsa05416 | 1.04071049 |
| 37 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.01403319 |
| 38 | Purine metabolism_Homo sapiens_hsa00230 | 0.98807445 |
| 39 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.96311627 |
| 40 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.93290296 |
| 41 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.93173478 |
| 42 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.92427218 |
| 43 | ABC transporters_Homo sapiens_hsa02010 | 0.90300447 |
| 44 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.89701845 |
| 45 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.83880937 |
| 46 | Huntingtons disease_Homo sapiens_hsa05016 | 0.82436901 |
| 47 | Mismatch repair_Homo sapiens_hsa03430 | 0.82213257 |
| 48 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.79734177 |
| 49 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.79561030 |
| 50 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.79520209 |
| 51 | Base excision repair_Homo sapiens_hsa03410 | 0.79438795 |
| 52 | Morphine addiction_Homo sapiens_hsa05032 | 0.76304242 |
| 53 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.74722207 |
| 54 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.72514519 |
| 55 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.69564425 |
| 56 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.69193935 |
| 57 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.68432815 |
| 58 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.68052604 |
| 59 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.65019799 |
| 60 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.63996360 |
| 61 | Influenza A_Homo sapiens_hsa05164 | 0.63237882 |
| 62 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.62660884 |
| 63 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.60280733 |
| 64 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.59198481 |
| 65 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.58651859 |
| 66 | Nicotine addiction_Homo sapiens_hsa05033 | 0.57402031 |
| 67 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.56984080 |
| 68 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.56746793 |
| 69 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.54820506 |
| 70 | DNA replication_Homo sapiens_hsa03030 | 0.50789081 |
| 71 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.49607994 |
| 72 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.47122654 |
| 73 | Homologous recombination_Homo sapiens_hsa03440 | 0.46550017 |
| 74 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.42253500 |
| 75 | Sulfur relay system_Homo sapiens_hsa04122 | 0.41786581 |
| 76 | Metabolic pathways_Homo sapiens_hsa01100 | 0.40755309 |
| 77 | Insulin secretion_Homo sapiens_hsa04911 | 0.40570912 |
| 78 | Bile secretion_Homo sapiens_hsa04976 | 0.39192729 |
| 79 | Cell cycle_Homo sapiens_hsa04110 | 0.38216296 |
| 80 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.32740214 |
| 81 | Circadian entrainment_Homo sapiens_hsa04713 | 0.30060012 |
| 82 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.29135588 |
| 83 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.28262253 |
| 84 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.27790643 |
| 85 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.26856261 |
| 86 | RNA degradation_Homo sapiens_hsa03018 | 0.26177155 |
| 87 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.24875723 |
| 88 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.23472948 |
| 89 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.23072111 |
| 90 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.22368892 |
| 91 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.22254682 |
| 92 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.21657915 |
| 93 | Tight junction_Homo sapiens_hsa04530 | 0.21276317 |
| 94 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.21061213 |
| 95 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.21013107 |
| 96 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.20899563 |
| 97 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.20004084 |
| 98 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.19615057 |
| 99 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.19562042 |
| 100 | Circadian rhythm_Homo sapiens_hsa04710 | 0.19462928 |

