

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | protein targeting to Golgi (GO:0000042) | 9.01827481 |
| 2 | chromosome condensation (GO:0030261) | 8.98422293 |
| 3 | DNA packaging (GO:0006323) | 8.67179400 |
| 4 | establishment of protein localization to Golgi (GO:0072600) | 8.66680719 |
| 5 | sperm capacitation (GO:0048240) | 8.52455542 |
| 6 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 8.43553927 |
| 7 | plasma membrane fusion (GO:0045026) | 8.30482618 |
| 8 | microtubule depolymerization (GO:0007019) | 8.24880625 |
| 9 | protein polyglutamylation (GO:0018095) | 7.93490084 |
| 10 | spermatid development (GO:0007286) | 7.64223554 |
| 11 | microtubule polymerization or depolymerization (GO:0031109) | 7.60935837 |
| 12 | rRNA methylation (GO:0031167) | 7.56384863 |
| 13 | centriole replication (GO:0007099) | 7.32419356 |
| 14 | single strand break repair (GO:0000012) | 7.18758064 |
| 15 | sperm-egg recognition (GO:0035036) | 6.96074872 |
| 16 | spermatid nucleus differentiation (GO:0007289) | 6.78560913 |
| 17 | response to pheromone (GO:0019236) | 6.67824811 |
| 18 | spermatogenesis (GO:0007283) | 6.54494616 |
| 19 | male gamete generation (GO:0048232) | 6.52325251 |
| 20 | multicellular organism reproduction (GO:0032504) | 6.50331744 |
| 21 | protein localization to Golgi apparatus (GO:0034067) | 6.49419949 |
| 22 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.47192492 |
| 23 | centriole assembly (GO:0098534) | 6.41085594 |
| 24 | rRNA modification (GO:0000154) | 6.38499884 |
| 25 | seminiferous tubule development (GO:0072520) | 6.26936910 |
| 26 | regulation of centriole replication (GO:0046599) | 6.26818927 |
| 27 | calcium ion-dependent exocytosis (GO:0017156) | 6.19442358 |
| 28 | binding of sperm to zona pellucida (GO:0007339) | 6.17235556 |
| 29 | reproduction (GO:0000003) | 6.02275302 |
| 30 | gamete generation (GO:0007276) | 6.00462512 |
| 31 | axonemal dynein complex assembly (GO:0070286) | 6.00338225 |
| 32 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.97384790 |
| 33 | cell-cell recognition (GO:0009988) | 5.72109918 |
| 34 | microtubule severing (GO:0051013) | 5.69872409 |
| 35 | negative regulation of inclusion body assembly (GO:0090084) | 5.56029860 |
| 36 | sexual reproduction (GO:0019953) | 5.55264502 |
| 37 | RNA destabilization (GO:0050779) | 5.39795205 |
| 38 | single fertilization (GO:0007338) | 5.13304487 |
| 39 | regulation of cilium movement (GO:0003352) | 5.07724730 |
| 40 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.06566413 |
| 41 | glomerular visceral epithelial cell development (GO:0072015) | 4.97513771 |
| 42 | motile cilium assembly (GO:0044458) | 4.93356128 |
| 43 | positive regulation of Rab GTPase activity (GO:0032851) | 4.90189038 |
| 44 | regulation of Rab GTPase activity (GO:0032313) | 4.90189038 |
| 45 | multicellular organismal reproductive process (GO:0048609) | 4.79978055 |
| 46 | microtubule nucleation (GO:0007020) | 4.73618184 |
| 47 | cell wall macromolecule catabolic process (GO:0016998) | 4.70527816 |
| 48 | glomerular epithelial cell development (GO:0072310) | 4.64526943 |
| 49 | fertilization (GO:0009566) | 4.60831305 |
| 50 | musculoskeletal movement (GO:0050881) | 4.58823209 |
| 51 | multicellular organismal movement (GO:0050879) | 4.58823209 |
| 52 | cell wall macromolecule metabolic process (GO:0044036) | 4.53779220 |
| 53 | epithelial cilium movement (GO:0003351) | 4.53658483 |
| 54 | nuclear pore complex assembly (GO:0051292) | 4.53210346 |
| 55 | germ cell development (GO:0007281) | 4.42542325 |
| 56 | nucleus organization (GO:0006997) | 4.33358119 |
| 57 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.32070003 |
| 58 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.25605458 |
| 59 | cilium movement (GO:0003341) | 3.95481069 |
| 60 | regulation of inclusion body assembly (GO:0090083) | 3.94164369 |
| 61 | cellular ketone body metabolic process (GO:0046950) | 3.83632383 |
| 62 | glycerol ether metabolic process (GO:0006662) | 3.75520017 |
| 63 | chromatin silencing (GO:0006342) | 3.66564372 |
| 64 | membrane protein intracellular domain proteolysis (GO:0031293) | 3.59939977 |
| 65 | pore complex assembly (GO:0046931) | 3.51626214 |
| 66 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.50666900 |
| 67 | organic cation transport (GO:0015695) | 3.47891819 |
| 68 | regulation of microtubule-based movement (GO:0060632) | 3.47303218 |
| 69 | ether metabolic process (GO:0018904) | 3.46356142 |
| 70 | Golgi to endosome transport (GO:0006895) | 3.42388937 |
| 71 | nuclear pore organization (GO:0006999) | 3.40371515 |
| 72 | ketone body metabolic process (GO:1902224) | 3.37407541 |
| 73 | RNA localization (GO:0006403) | 3.21102179 |
| 74 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.19909547 |
| 75 | ventricular system development (GO:0021591) | 3.18945923 |
| 76 | protein depolymerization (GO:0051261) | 3.13829193 |
| 77 | multicellular organismal development (GO:0007275) | 3.04927641 |
| 78 | regulation of interleukin-13 production (GO:0032656) | 3.04632749 |
| 79 | homeostasis of number of cells within a tissue (GO:0048873) | 3.03473720 |
| 80 | polyamine biosynthetic process (GO:0006596) | 3.03235128 |
| 81 | axoneme assembly (GO:0035082) | 3.02926382 |
| 82 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.98246633 |
| 83 | cellular response to pH (GO:0071467) | 2.98196344 |
| 84 | centrosome duplication (GO:0051298) | 2.94262654 |
| 85 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.94116629 |
| 86 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 2.93590573 |
| 87 | vesicle transport along microtubule (GO:0047496) | 2.93003743 |
| 88 | mitotic G1 DNA damage checkpoint (GO:0031571) | 2.89916922 |
| 89 | cerebral cortex neuron differentiation (GO:0021895) | 2.89084376 |
| 90 | histone H3-K9 demethylation (GO:0033169) | 2.88719661 |
| 91 | regulation of somitogenesis (GO:0014807) | 2.87146731 |
| 92 | receptor recycling (GO:0001881) | 2.85578013 |
| 93 | response to acidic pH (GO:0010447) | 2.84797188 |
| 94 | coenzyme catabolic process (GO:0009109) | 2.80125190 |
| 95 | RNA methylation (GO:0001510) | 2.78507746 |
| 96 | DNA conformation change (GO:0071103) | 2.78295120 |
| 97 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.77841346 |
| 98 | sperm motility (GO:0030317) | 12.0307508 |
| 99 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.9616566 |
| 100 | acrosome reaction (GO:0007340) | 10.7814574 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 5.47691528 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.02280765 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.43199105 |
| 4 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.07420226 |
| 5 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.52174089 |
| 6 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.52174089 |
| 7 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.44367109 |
| 8 | FUS_26573619_Chip-Seq_HEK293_Human | 2.31963000 |
| 9 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.31858711 |
| 10 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.31858711 |
| 11 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.20177442 |
| 12 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.15859153 |
| 13 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.12290663 |
| 14 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.04624045 |
| 15 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.88043037 |
| 16 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.86097528 |
| 17 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.73712005 |
| 18 | ERA_21632823_ChIP-Seq_H3396_Human | 1.72316935 |
| 19 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.68975289 |
| 20 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.68154794 |
| 21 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.66481221 |
| 22 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.63128352 |
| 23 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.61821772 |
| 24 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.61757270 |
| 25 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.61119460 |
| 26 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.60855419 |
| 27 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.60266332 |
| 28 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.57839574 |
| 29 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.57676175 |
| 30 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.57170444 |
| 31 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.56159417 |
| 32 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.54650076 |
| 33 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.52290211 |
| 34 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.52277865 |
| 35 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.50899899 |
| 36 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.47763285 |
| 37 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.47718314 |
| 38 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.46204757 |
| 39 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.44311022 |
| 40 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.40931598 |
| 41 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.40665063 |
| 42 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.38903912 |
| 43 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.38643639 |
| 44 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.38444397 |
| 45 | NFYB_21822215_ChIP-Seq_K562_Human | 1.37229734 |
| 46 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.36354040 |
| 47 | AR_25329375_ChIP-Seq_VCAP_Human | 1.34567123 |
| 48 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.33387770 |
| 49 | P300_19829295_ChIP-Seq_ESCs_Human | 1.33375068 |
| 50 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.32966358 |
| 51 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.32942077 |
| 52 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.32882787 |
| 53 | TBL1_22424771_ChIP-Seq_293T_Human | 1.32224146 |
| 54 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.31517316 |
| 55 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.31293293 |
| 56 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.30030605 |
| 57 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.28839737 |
| 58 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.28760393 |
| 59 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.28175097 |
| 60 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.27717833 |
| 61 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.27583120 |
| 62 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.26584922 |
| 63 | P68_20966046_ChIP-Seq_HELA_Human | 1.25539272 |
| 64 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.25039110 |
| 65 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.23827515 |
| 66 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.23597421 |
| 67 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.23576460 |
| 68 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.23078371 |
| 69 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.22433369 |
| 70 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.22204267 |
| 71 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.21602841 |
| 72 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.18916477 |
| 73 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.18675109 |
| 74 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.18477258 |
| 75 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.17430975 |
| 76 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.15328100 |
| 77 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.14542939 |
| 78 | STAT3_23295773_ChIP-Seq_U87_Human | 1.13943057 |
| 79 | NFYA_21822215_ChIP-Seq_K562_Human | 1.12999238 |
| 80 | P300_27268052_Chip-Seq_Bcells_Human | 1.12942072 |
| 81 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.11471554 |
| 82 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.10815435 |
| 83 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.10157054 |
| 84 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.07772365 |
| 85 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.07572253 |
| 86 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.06910195 |
| 87 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.06612531 |
| 88 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.06597057 |
| 89 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.06210747 |
| 90 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.05710541 |
| 91 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.05626276 |
| 92 | SA1_27219007_Chip-Seq_Bcells_Human | 1.03777386 |
| 93 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.03054712 |
| 94 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.02014359 |
| 95 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.01984766 |
| 96 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.01713092 |
| 97 | KLF5_25053715_ChIP-Seq_YYC3_Human | 1.01688799 |
| 98 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.00699329 |
| 99 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.00699329 |
| 100 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.00457429 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 6.16328931 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 6.16328931 |
| 3 | MP0005670_abnormal_white_adipose | 4.87423365 |
| 4 | MP0003698_abnormal_male_reproductive | 4.27394579 |
| 5 | MP0001929_abnormal_gametogenesis | 3.77828241 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.32865590 |
| 7 | MP0005451_abnormal_body_composition | 2.38978926 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.38053882 |
| 9 | MP0003646_muscle_fatigue | 2.27980979 |
| 10 | MP0003718_maternal_effect | 2.24303670 |
| 11 | MP0001485_abnormal_pinna_reflex | 2.07772864 |
| 12 | MP0005410_abnormal_fertilization | 11.5863073 |
| 13 | MP0005310_abnormal_salivary_gland | 1.91214999 |
| 14 | MP0000678_abnormal_parathyroid_gland | 1.89932322 |
| 15 | MP0005379_endocrine/exocrine_gland_phen | 1.80175606 |
| 16 | MP0001486_abnormal_startle_reflex | 1.74819806 |
| 17 | MP0002210_abnormal_sex_determination | 1.74144403 |
| 18 | MP0003879_abnormal_hair_cell | 1.71212503 |
| 19 | MP0005423_abnormal_somatic_nervous | 1.65923116 |
| 20 | MP0003011_delayed_dark_adaptation | 1.57447271 |
| 21 | MP0002132_abnormal_respiratory_system | 1.56827916 |
| 22 | MP0004742_abnormal_vestibular_system | 1.49898195 |
| 23 | MP0001145_abnormal_male_reproductive | 1.42411614 |
| 24 | MP0000653_abnormal_sex_gland | 1.33744061 |
| 25 | MP0002282_abnormal_trachea_morphology | 1.31300203 |
| 26 | MP0004859_abnormal_synaptic_plasticity | 1.26195219 |
| 27 | MP0001963_abnormal_hearing_physiology | 1.23031546 |
| 28 | MP0002234_abnormal_pharynx_morphology | 1.21526321 |
| 29 | MP0001765_abnormal_ion_homeostasis | 1.13165196 |
| 30 | MP0009115_abnormal_fat_cell | 1.12301271 |
| 31 | MP0009053_abnormal_anal_canal | 1.11320615 |
| 32 | MP0002249_abnormal_larynx_morphology | 1.06133448 |
| 33 | MP0002138_abnormal_hepatobiliary_system | 1.05913191 |
| 34 | MP0004510_myositis | 1.04305327 |
| 35 | MP0002822_catalepsy | 0.99460276 |
| 36 | MP0005551_abnormal_eye_electrophysiolog | 0.98488197 |
| 37 | MP0000026_abnormal_inner_ear | 0.98390742 |
| 38 | MP0005395_other_phenotype | 0.96994204 |
| 39 | MP0000534_abnormal_ureter_morphology | 0.96611572 |
| 40 | MP0005666_abnormal_adipose_tissue | 0.94438920 |
| 41 | MP0002127_abnormal_cardiovascular_syste | 0.91827279 |
| 42 | MP0005253_abnormal_eye_physiology | 0.89614769 |
| 43 | MP0009697_abnormal_copulation | 0.89552582 |
| 44 | MP0002735_abnormal_chemical_nociception | 0.88538475 |
| 45 | MP0002229_neurodegeneration | 0.86467040 |
| 46 | MP0001984_abnormal_olfaction | 0.85812124 |
| 47 | MP0001968_abnormal_touch/_nociception | 0.85119512 |
| 48 | MP0008877_abnormal_DNA_methylation | 0.84886872 |
| 49 | MP0000955_abnormal_spinal_cord | 0.82991020 |
| 50 | MP0005167_abnormal_blood-brain_barrier | 0.79572419 |
| 51 | MP0005248_abnormal_Harderian_gland | 0.79463790 |
| 52 | MP0002067_abnormal_sensory_capabilities | 0.76534086 |
| 53 | MP0005083_abnormal_biliary_tract | 0.70120407 |
| 54 | MP0005375_adipose_tissue_phenotype | 0.68585759 |
| 55 | MP0008569_lethality_at_weaning | 0.66837697 |
| 56 | MP0004233_abnormal_muscle_weight | 0.66562331 |
| 57 | MP0002557_abnormal_social/conspecific_i | 0.65361996 |
| 58 | MP0004085_abnormal_heartbeat | 0.64531274 |
| 59 | MP0008995_early_reproductive_senescence | 0.63540175 |
| 60 | MP0005397_hematopoietic_system_phenotyp | 0.61099900 |
| 61 | MP0001545_abnormal_hematopoietic_system | 0.61099900 |
| 62 | MP0001905_abnormal_dopamine_level | 0.60551193 |
| 63 | MP0005636_abnormal_mineral_homeostasis | 0.60466951 |
| 64 | MP0000230_abnormal_systemic_arterial | 0.60183550 |
| 65 | MP0002572_abnormal_emotion/affect_behav | 0.57991124 |
| 66 | MP0003077_abnormal_cell_cycle | 0.57297236 |
| 67 | MP0002733_abnormal_thermal_nociception | 0.56234963 |
| 68 | MP0001666_abnormal_nutrient_absorption | 0.56016875 |
| 69 | MP0010329_abnormal_lipoprotein_level | 0.54022555 |
| 70 | MP0004484_altered_response_of | 0.53136722 |
| 71 | MP0004036_abnormal_muscle_relaxation | 0.51502096 |
| 72 | MP0001440_abnormal_grooming_behavior | 0.51051708 |
| 73 | MP0003137_abnormal_impulse_conducting | 0.50888066 |
| 74 | MP0000681_abnormal_thyroid_gland | 0.50609591 |
| 75 | MP0004084_abnormal_cardiac_muscle | 0.49041381 |
| 76 | MP0005332_abnormal_amino_acid | 0.48674341 |
| 77 | MP0000003_abnormal_adipose_tissue | 0.48437621 |
| 78 | MP0005535_abnormal_body_temperature | 0.47560472 |
| 79 | MP0005645_abnormal_hypothalamus_physiol | 0.46816338 |
| 80 | MP0005084_abnormal_gallbladder_morpholo | 0.46496378 |
| 81 | MP0005367_renal/urinary_system_phenotyp | 0.45026839 |
| 82 | MP0000516_abnormal_urinary_system | 0.45026839 |
| 83 | MP0000049_abnormal_middle_ear | 0.44986144 |
| 84 | MP0002272_abnormal_nervous_system | 0.44742303 |
| 85 | MP0005408_hypopigmentation | 0.43995722 |
| 86 | MP0009745_abnormal_behavioral_response | 0.41451994 |
| 87 | MP0002928_abnormal_bile_duct | 0.41094729 |
| 88 | MP0009764_decreased_sensitivity_to | 0.40480887 |
| 89 | MP0001501_abnormal_sleep_pattern | 0.40161346 |
| 90 | MP0005391_vision/eye_phenotype | 0.39821985 |
| 91 | MP0008961_abnormal_basal_metabolism | 0.38793117 |
| 92 | MP0001879_abnormal_lymphatic_vessel | 0.38560543 |
| 93 | MP0000249_abnormal_blood_vessel | 0.38057080 |
| 94 | MP0003631_nervous_system_phenotype | 0.37323992 |
| 95 | MP0002734_abnormal_mechanical_nocicepti | 0.37285070 |
| 96 | MP0005595_abnormal_vascular_smooth | 0.36574586 |
| 97 | MP0002653_abnormal_ependyma_morphology | 0.35869986 |
| 98 | MP0001970_abnormal_pain_threshold | 0.35866373 |
| 99 | MP0004782_abnormal_surfactant_physiolog | 0.34914589 |
| 100 | MP0004957_abnormal_blastocyst_morpholog | 0.34906419 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.21781903 |
| 2 | Tubulointerstitial nephritis (HP:0001970) | 6.86213854 |
| 3 | Chronic hepatic failure (HP:0100626) | 6.61205772 |
| 4 | Asymmetric septal hypertrophy (HP:0001670) | 6.29434528 |
| 5 | Absent/shortened dynein arms (HP:0200106) | 6.07552210 |
| 6 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.07552210 |
| 7 | Cone-rod dystrophy (HP:0000548) | 4.85441155 |
| 8 | Male infertility (HP:0003251) | 4.78626178 |
| 9 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.59074540 |
| 10 | Hyperkalemia (HP:0002153) | 4.53359041 |
| 11 | Resting tremor (HP:0002322) | 4.50730385 |
| 12 | Abnormal ciliary motility (HP:0012262) | 4.43943039 |
| 13 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.43789289 |
| 14 | Abnormality of macular pigmentation (HP:0008002) | 4.41141514 |
| 15 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.35395995 |
| 16 | Attenuation of retinal blood vessels (HP:0007843) | 4.26695050 |
| 17 | Nasal polyposis (HP:0100582) | 4.24885592 |
| 18 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.17862170 |
| 19 | Hypoalphalipoproteinemia (HP:0003233) | 4.15320565 |
| 20 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.05545799 |
| 21 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.05545799 |
| 22 | Menstrual irregularities (HP:0000858) | 3.96757054 |
| 23 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.94288919 |
| 24 | Infertility (HP:0000789) | 3.91395781 |
| 25 | Progressive sensorineural hearing impairment (HP:0000408) | 3.89372071 |
| 26 | Amelogenesis imperfecta (HP:0000705) | 3.86995233 |
| 27 | Hypoplasia of the thymus (HP:0000778) | 3.77273035 |
| 28 | Impulsivity (HP:0100710) | 3.61192698 |
| 29 | Renovascular hypertension (HP:0100817) | 3.51366258 |
| 30 | Abnormality of the nasal mucosa (HP:0000433) | 3.47392006 |
| 31 | Abnormality of dental color (HP:0011073) | 3.45965836 |
| 32 | Facial shape deformation (HP:0011334) | 3.32478153 |
| 33 | Potter facies (HP:0002009) | 3.32478153 |
| 34 | Bell-shaped thorax (HP:0001591) | 3.28936621 |
| 35 | Insulin-resistant diabetes mellitus (HP:0000831) | 3.26843054 |
| 36 | Portal hypertension (HP:0001409) | 3.24513129 |
| 37 | Truncal obesity (HP:0001956) | 3.22187298 |
| 38 | Stage 5 chronic kidney disease (HP:0003774) | 3.14741980 |
| 39 | Progressive cerebellar ataxia (HP:0002073) | 3.14317126 |
| 40 | Tubulointerstitial abnormality (HP:0001969) | 3.13702608 |
| 41 | Postural instability (HP:0002172) | 3.10625641 |
| 42 | Abnormality of the hepatic vasculature (HP:0006707) | 2.98386037 |
| 43 | Enlarged epiphyses (HP:0010580) | 2.92595367 |
| 44 | Nephronophthisis (HP:0000090) | 2.90446333 |
| 45 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.84760203 |
| 46 | Abnormal spermatogenesis (HP:0008669) | 2.76969085 |
| 47 | Hypoplastic ischia (HP:0003175) | 2.71953996 |
| 48 | Increased purine levels (HP:0004368) | 2.64896861 |
| 49 | Hyperuricemia (HP:0002149) | 2.64896861 |
| 50 | Abnormality of the costochondral junction (HP:0000919) | 2.63592697 |
| 51 | Rhinitis (HP:0012384) | 2.63244403 |
| 52 | Subcapsular cataract (HP:0000523) | 2.60540479 |
| 53 | Intellectual disability, moderate (HP:0002342) | 2.57208407 |
| 54 | Progressive hearing impairment (HP:0001730) | 2.56567832 |
| 55 | Abnormal urine output (HP:0012590) | 2.53016222 |
| 56 | Ventricular tachycardia (HP:0004756) | 2.51438352 |
| 57 | Focal segmental glomerulosclerosis (HP:0000097) | 2.46761766 |
| 58 | Abnormality of the ischium (HP:0003174) | 2.46551488 |
| 59 | Abnormality of the renal medulla (HP:0100957) | 2.46380751 |
| 60 | Abnormality of potassium homeostasis (HP:0011042) | 2.45085837 |
| 61 | Abnormal drinking behavior (HP:0030082) | 2.41676298 |
| 62 | Polydipsia (HP:0001959) | 2.41676298 |
| 63 | Generalized aminoaciduria (HP:0002909) | 2.40791891 |
| 64 | Chronic bronchitis (HP:0004469) | 2.30552138 |
| 65 | Azoospermia (HP:0000027) | 2.20930808 |
| 66 | Abnormality of renal excretion (HP:0011036) | 2.18868759 |
| 67 | Osteomalacia (HP:0002749) | 2.17985261 |
| 68 | Unilateral renal agenesis (HP:0000122) | 2.17712339 |
| 69 | Abnormality of the aortic arch (HP:0012303) | 2.16862253 |
| 70 | Myokymia (HP:0002411) | 2.11191092 |
| 71 | Hypolipoproteinemia (HP:0010981) | 2.09943622 |
| 72 | Hypophosphatemic rickets (HP:0004912) | 2.09403453 |
| 73 | Bradycardia (HP:0001662) | 2.06949426 |
| 74 | Polyuria (HP:0000103) | 2.04823822 |
| 75 | Recurrent pneumonia (HP:0006532) | 2.04282963 |
| 76 | Glomerulosclerosis (HP:0000096) | 2.02928825 |
| 77 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.02700474 |
| 78 | Renal Fanconi syndrome (HP:0001994) | 1.93863853 |
| 79 | Sandal gap (HP:0001852) | 1.93471040 |
| 80 | Insulin resistance (HP:0000855) | 1.92449184 |
| 81 | Double outlet right ventricle (HP:0001719) | 1.92356666 |
| 82 | Congenital malformation of the right heart (HP:0011723) | 1.92356666 |
| 83 | Flattened epiphyses (HP:0003071) | 1.89069772 |
| 84 | Renal dysplasia (HP:0000110) | 1.88574922 |
| 85 | Bronchiectasis (HP:0002110) | 1.87697612 |
| 86 | Abnormal albumin level (HP:0012116) | 1.87495547 |
| 87 | Hypoalbuminemia (HP:0003073) | 1.87495547 |
| 88 | Hyponatremia (HP:0002902) | 1.86505807 |
| 89 | Recurrent corneal erosions (HP:0000495) | 1.86360684 |
| 90 | Decreased central vision (HP:0007663) | 1.85466710 |
| 91 | Tubular atrophy (HP:0000092) | 1.84755767 |
| 92 | Abnormality of purine metabolism (HP:0004352) | 1.83732539 |
| 93 | Widely patent fontanelles and sutures (HP:0004492) | 1.83304197 |
| 94 | Horizontal nystagmus (HP:0000666) | 1.75448660 |
| 95 | Optic nerve hypoplasia (HP:0000609) | 1.73466110 |
| 96 | Convex nasal ridge (HP:0000444) | 1.71090967 |
| 97 | Abnormality of the parathyroid morphology (HP:0011766) | 1.70064538 |
| 98 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.69586416 |
| 99 | Photophobia (HP:0000613) | 1.69032816 |
| 100 | Gingivitis (HP:0000230) | 1.68464975 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | INSRR | 4.65961167 |
| 2 | TESK1 | 4.57385932 |
| 3 | BRD4 | 4.36231248 |
| 4 | PLK2 | 3.75815883 |
| 5 | MAP4K2 | 3.49186669 |
| 6 | PNCK | 3.32251014 |
| 7 | DDR2 | 3.27193817 |
| 8 | CAMK1G | 2.56613061 |
| 9 | PIK3CG | 2.50980098 |
| 10 | STK38 | 2.30186273 |
| 11 | PRKD3 | 2.10221379 |
| 12 | PLK4 | 10.0017139 |
| 13 | STK38L | 1.90360221 |
| 14 | MAPK15 | 1.86438290 |
| 15 | TYRO3 | 1.78259769 |
| 16 | PDK1 | 1.52411830 |
| 17 | CDK12 | 1.51728828 |
| 18 | NEK6 | 1.49524388 |
| 19 | PDPK1 | 1.48628911 |
| 20 | MST1R | 1.33300257 |
| 21 | WNK1 | 1.27745110 |
| 22 | PTK2B | 1.18876174 |
| 23 | DYRK1B | 1.18740773 |
| 24 | AKT3 | 0.96728568 |
| 25 | CDK7 | 0.96553570 |
| 26 | CAMK1D | 0.95155504 |
| 27 | PRKG2 | 0.82972866 |
| 28 | TIE1 | 0.81025157 |
| 29 | MAP3K11 | 0.75405650 |
| 30 | KSR2 | 0.70327152 |
| 31 | SIK2 | 0.69366330 |
| 32 | BRAF | 0.59298295 |
| 33 | WNK4 | 0.58347132 |
| 34 | CAMK1 | 0.55022547 |
| 35 | PRKG1 | 0.55018904 |
| 36 | MAP3K9 | 0.52524136 |
| 37 | MARK1 | 0.50040299 |
| 38 | MAP2K2 | 0.49729165 |
| 39 | RPS6KA2 | 0.49322082 |
| 40 | SGK494 | 0.46738778 |
| 41 | SGK223 | 0.46738778 |
| 42 | PRKAA2 | 0.45935776 |
| 43 | LATS2 | 0.45671492 |
| 44 | CDK3 | 0.43923012 |
| 45 | RPS6KA1 | 0.43738831 |
| 46 | STK39 | 0.43048942 |
| 47 | MAP3K2 | 0.40187840 |
| 48 | CDK2 | 0.39830142 |
| 49 | BRSK1 | 0.39091519 |
| 50 | MAPK1 | 0.38280722 |
| 51 | CDK1 | 0.37295032 |
| 52 | NTRK3 | 0.36659826 |
| 53 | GSK3B | 0.36497125 |
| 54 | ROCK1 | 0.35110073 |
| 55 | UHMK1 | 0.34398192 |
| 56 | JAK3 | 0.33295985 |
| 57 | LATS1 | 0.29433138 |
| 58 | PRKCG | 0.28753265 |
| 59 | CAMK4 | 0.28487797 |
| 60 | MAP3K8 | 0.27907994 |
| 61 | MAPK8 | 0.27264672 |
| 62 | MAP3K1 | 0.27200895 |
| 63 | SGK1 | 0.26582253 |
| 64 | BMPR1B | 0.26267111 |
| 65 | MTOR | 0.25257980 |
| 66 | PRKCZ | 0.24516681 |
| 67 | SGK2 | 0.23613690 |
| 68 | MAP3K4 | 0.23310431 |
| 69 | RPS6KC1 | 0.22430011 |
| 70 | RPS6KL1 | 0.22430011 |
| 71 | MUSK | 0.22319546 |
| 72 | CHEK1 | 0.22031982 |
| 73 | CDK4 | 0.21499032 |
| 74 | PRKCB | 0.20235321 |
| 75 | BRSK2 | 0.19801495 |
| 76 | MAPK14 | 0.19482868 |
| 77 | RPS6KA6 | 0.19237503 |
| 78 | TNIK | 0.19150210 |
| 79 | TESK2 | 0.17376143 |
| 80 | MARK2 | 0.16309498 |
| 81 | BLK | 0.15753641 |
| 82 | MAPK10 | 0.15478100 |
| 83 | DYRK3 | 0.14728130 |
| 84 | OXSR1 | 0.13527230 |
| 85 | AKT1 | 0.11890051 |
| 86 | MAPK11 | 0.10430177 |
| 87 | PRKACB | 0.09975658 |
| 88 | MET | 0.09689498 |
| 89 | SGK3 | 0.09544223 |
| 90 | PKN1 | 0.09218778 |
| 91 | NEK2 | 0.07272981 |
| 92 | ZAK | 0.06961849 |
| 93 | ARAF | 0.06878196 |
| 94 | PRKACA | 0.06860226 |
| 95 | MAPK9 | 0.05295469 |
| 96 | RIPK4 | 0.04435339 |
| 97 | MAP3K7 | 0.03574755 |
| 98 | CSNK1A1 | 0.03387321 |
| 99 | CAMK2A | 0.02630368 |
| 100 | PRKAA1 | 0.02377349 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 7.56920752 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.69723842 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 4.04761988 |
| 4 | RNA transport_Homo sapiens_hsa03013 | 2.23052259 |
| 5 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.17739344 |
| 6 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.16358126 |
| 7 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 2.12562826 |
| 8 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.94408754 |
| 9 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.90519310 |
| 10 | Taste transduction_Homo sapiens_hsa04742 | 1.88383207 |
| 11 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.85893554 |
| 12 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.71960536 |
| 13 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.67931632 |
| 14 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.57831664 |
| 15 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.55255645 |
| 16 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.38125779 |
| 17 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.32412205 |
| 18 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.22527229 |
| 19 | Phototransduction_Homo sapiens_hsa04744 | 1.19971759 |
| 20 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.15536480 |
| 21 | Salivary secretion_Homo sapiens_hsa04970 | 1.15051131 |
| 22 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.14812168 |
| 23 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.13852358 |
| 24 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.13160012 |
| 25 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.13053211 |
| 26 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.10853553 |
| 27 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.07062997 |
| 28 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.05111389 |
| 29 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.04746650 |
| 30 | Allograft rejection_Homo sapiens_hsa05330 | 1.04700770 |
| 31 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.98865697 |
| 32 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.98332866 |
| 33 | ABC transporters_Homo sapiens_hsa02010 | 0.96605798 |
| 34 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.95357880 |
| 35 | Morphine addiction_Homo sapiens_hsa05032 | 0.95097117 |
| 36 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.94432812 |
| 37 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.94397378 |
| 38 | Endocytosis_Homo sapiens_hsa04144 | 0.93608218 |
| 39 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.90694089 |
| 40 | Nicotine addiction_Homo sapiens_hsa05033 | 0.90342682 |
| 41 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.89023416 |
| 42 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.88513485 |
| 43 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.88406351 |
| 44 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.85617565 |
| 45 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.84316610 |
| 46 | Viral myocarditis_Homo sapiens_hsa05416 | 0.84298544 |
| 47 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.82947191 |
| 48 | Influenza A_Homo sapiens_hsa05164 | 0.82607302 |
| 49 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.82082522 |
| 50 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.77277551 |
| 51 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.76678011 |
| 52 | Circadian entrainment_Homo sapiens_hsa04713 | 0.76375210 |
| 53 | Renin secretion_Homo sapiens_hsa04924 | 0.73848611 |
| 54 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.71637862 |
| 55 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.71110583 |
| 56 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.68257622 |
| 57 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.66962449 |
| 58 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.65466856 |
| 59 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.62815844 |
| 60 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.61345734 |
| 61 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.59888167 |
| 62 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.59058743 |
| 63 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.58883081 |
| 64 | Bile secretion_Homo sapiens_hsa04976 | 0.57163016 |
| 65 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.55372424 |
| 66 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.54955192 |
| 67 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.54456566 |
| 68 | Retinol metabolism_Homo sapiens_hsa00830 | 0.53905005 |
| 69 | Long-term potentiation_Homo sapiens_hsa04720 | 0.53689685 |
| 70 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.52347665 |
| 71 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.51404005 |
| 72 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.49240501 |
| 73 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.47000891 |
| 74 | Insulin secretion_Homo sapiens_hsa04911 | 0.46641964 |
| 75 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.43764267 |
| 76 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.43651778 |
| 77 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.42224588 |
| 78 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.39972373 |
| 79 | Purine metabolism_Homo sapiens_hsa00230 | 0.39720293 |
| 80 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.38959518 |
| 81 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.38504568 |
| 82 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.38164793 |
| 83 | GABAergic synapse_Homo sapiens_hsa04727 | 0.38019709 |
| 84 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.36995798 |
| 85 | Tight junction_Homo sapiens_hsa04530 | 0.32592192 |
| 86 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.31075674 |
| 87 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.30915852 |
| 88 | Huntingtons disease_Homo sapiens_hsa05016 | 0.30345074 |
| 89 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.29183049 |
| 90 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.28756867 |
| 91 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.28671924 |
| 92 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.26539623 |
| 93 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.26384121 |
| 94 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.23609449 |
| 95 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.23194085 |
| 96 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.21767101 |
| 97 | Sulfur relay system_Homo sapiens_hsa04122 | 0.20114007 |
| 98 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.15285277 |
| 99 | Base excision repair_Homo sapiens_hsa03410 | 0.13561465 |
| 100 | Carbon metabolism_Homo sapiens_hsa01200 | 0.13216681 |

