

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | chromosome condensation (GO:0030261) | 9.55710963 |
| 2 | sperm capacitation (GO:0048240) | 9.27914387 |
| 3 | response to pheromone (GO:0019236) | 9.25159612 |
| 4 | DNA packaging (GO:0006323) | 9.18315268 |
| 5 | single strand break repair (GO:0000012) | 8.61282376 |
| 6 | plasma membrane fusion (GO:0045026) | 8.41311006 |
| 7 | spermatid nucleus differentiation (GO:0007289) | 8.32706331 |
| 8 | microtubule depolymerization (GO:0007019) | 8.12366082 |
| 9 | spermatid development (GO:0007286) | 8.04064585 |
| 10 | sperm-egg recognition (GO:0035036) | 7.42946194 |
| 11 | rRNA methylation (GO:0031167) | 7.20594642 |
| 12 | sexual reproduction (GO:0019953) | 7.05990998 |
| 13 | multicellular organism reproduction (GO:0032504) | 6.99564288 |
| 14 | binding of sperm to zona pellucida (GO:0007339) | 6.86346028 |
| 15 | protein targeting to Golgi (GO:0000042) | 6.79211329 |
| 16 | protein polyglutamylation (GO:0018095) | 6.77786874 |
| 17 | reproduction (GO:0000003) | 6.76788455 |
| 18 | microtubule polymerization or depolymerization (GO:0031109) | 6.75244155 |
| 19 | calcium ion-dependent exocytosis (GO:0017156) | 6.64857434 |
| 20 | negative regulation of inclusion body assembly (GO:0090084) | 6.55128725 |
| 21 | establishment of protein localization to Golgi (GO:0072600) | 6.53506749 |
| 22 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.39271332 |
| 23 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.37633177 |
| 24 | spermatogenesis (GO:0007283) | 6.14539015 |
| 25 | male gamete generation (GO:0048232) | 6.12469415 |
| 26 | cell-cell recognition (GO:0009988) | 6.10284969 |
| 27 | axonemal dynein complex assembly (GO:0070286) | 6.08862081 |
| 28 | rRNA modification (GO:0000154) | 6.06375577 |
| 29 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.92459983 |
| 30 | microtubule severing (GO:0051013) | 5.63817712 |
| 31 | cellular ketone body metabolic process (GO:0046950) | 5.63089593 |
| 32 | gamete generation (GO:0007276) | 5.60692332 |
| 33 | centriole replication (GO:0007099) | 5.46013912 |
| 34 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 5.33375135 |
| 35 | positive regulation of Rab GTPase activity (GO:0032851) | 5.25507593 |
| 36 | regulation of Rab GTPase activity (GO:0032313) | 5.25507593 |
| 37 | regulation of cilium movement (GO:0003352) | 5.05536643 |
| 38 | single fertilization (GO:0007338) | 4.98956084 |
| 39 | chromatin silencing (GO:0006342) | 4.98178245 |
| 40 | ketone body metabolic process (GO:1902224) | 4.96275784 |
| 41 | motile cilium assembly (GO:0044458) | 4.92916165 |
| 42 | protein localization to Golgi apparatus (GO:0034067) | 4.90986232 |
| 43 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.87458063 |
| 44 | centriole assembly (GO:0098534) | 4.85150878 |
| 45 | RNA destabilization (GO:0050779) | 4.70721356 |
| 46 | regulation of centriole replication (GO:0046599) | 4.69849243 |
| 47 | regulation of inclusion body assembly (GO:0090083) | 4.62139231 |
| 48 | germ cell development (GO:0007281) | 4.58874905 |
| 49 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.53596814 |
| 50 | multicellular organismal reproductive process (GO:0048609) | 4.48371710 |
| 51 | cell wall macromolecule catabolic process (GO:0016998) | 4.39383083 |
| 52 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.36025563 |
| 53 | seminiferous tubule development (GO:0072520) | 4.34237334 |
| 54 | cell wall macromolecule metabolic process (GO:0044036) | 4.23873084 |
| 55 | nucleus organization (GO:0006997) | 4.20699998 |
| 56 | fertilization (GO:0009566) | 4.15473172 |
| 57 | musculoskeletal movement (GO:0050881) | 4.03459082 |
| 58 | multicellular organismal movement (GO:0050879) | 4.03459082 |
| 59 | epithelial cilium movement (GO:0003351) | 3.96242797 |
| 60 | coenzyme catabolic process (GO:0009109) | 3.92514264 |
| 61 | glycerol ether metabolic process (GO:0006662) | 3.84147050 |
| 62 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.73338472 |
| 63 | ether metabolic process (GO:0018904) | 3.53993200 |
| 64 | cilium movement (GO:0003341) | 3.51126073 |
| 65 | glomerular visceral epithelial cell development (GO:0072015) | 3.51052639 |
| 66 | organic cation transport (GO:0015695) | 3.44013153 |
| 67 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.40810954 |
| 68 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.38130328 |
| 69 | glomerular epithelial cell development (GO:0072310) | 3.36912170 |
| 70 | regulation of microtubule-based movement (GO:0060632) | 3.33137611 |
| 71 | nucleosome disassembly (GO:0006337) | 3.29623503 |
| 72 | protein-DNA complex disassembly (GO:0032986) | 3.29623503 |
| 73 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.28788187 |
| 74 | microtubule nucleation (GO:0007020) | 3.20561916 |
| 75 | response to acidic pH (GO:0010447) | 3.20365550 |
| 76 | cerebral cortex neuron differentiation (GO:0021895) | 3.19724816 |
| 77 | regulation of interleukin-13 production (GO:0032656) | 3.17957468 |
| 78 | histone H3-K9 demethylation (GO:0033169) | 3.11744806 |
| 79 | cellular response to pH (GO:0071467) | 3.06111905 |
| 80 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.05719576 |
| 81 | protein depolymerization (GO:0051261) | 3.05549159 |
| 82 | polyamine biosynthetic process (GO:0006596) | 3.05142549 |
| 83 | homeostasis of number of cells within a tissue (GO:0048873) | 3.03667633 |
| 84 | multicellular organismal development (GO:0007275) | 3.00217525 |
| 85 | DNA conformation change (GO:0071103) | 2.98109351 |
| 86 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 2.97364933 |
| 87 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 2.97364933 |
| 88 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.96967384 |
| 89 | cell recognition (GO:0008037) | 2.95136635 |
| 90 | cell differentiation involved in metanephros development (GO:0072202) | 2.87218035 |
| 91 | cranial nerve morphogenesis (GO:0021602) | 2.83164052 |
| 92 | NAD biosynthetic process (GO:0009435) | 2.82689070 |
| 93 | receptor recycling (GO:0001881) | 2.73704727 |
| 94 | regulation of ARF GTPase activity (GO:0032312) | 2.73176040 |
| 95 | metanephric tubule development (GO:0072170) | 2.71966617 |
| 96 | metanephric nephron tubule development (GO:0072234) | 2.71966617 |
| 97 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.69952804 |
| 98 | acrosome reaction (GO:0007340) | 12.2350316 |
| 99 | sperm motility (GO:0030317) | 11.7866016 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.0692113 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.39945282 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 4.09924580 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.61644414 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.34592859 |
| 5 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.34592859 |
| 6 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.15154947 |
| 7 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.15154947 |
| 8 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.10737128 |
| 9 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.08619982 |
| 10 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.99047106 |
| 11 | * ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.95440563 |
| 12 | FUS_26573619_Chip-Seq_HEK293_Human | 1.95422703 |
| 13 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.95233802 |
| 14 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.93487306 |
| 15 | * ERA_21632823_ChIP-Seq_H3396_Human | 1.92314116 |
| 16 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.85606626 |
| 17 | * RAC3_21632823_ChIP-Seq_H3396_Human | 1.79448081 |
| 18 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.78687033 |
| 19 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.76847246 |
| 20 | * NANOG_20526341_ChIP-Seq_ESCs_Human | 1.72756242 |
| 21 | * RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.72030654 |
| 22 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.70548194 |
| 23 | * EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.68940986 |
| 24 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.67362123 |
| 25 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.66408647 |
| 26 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.66034594 |
| 27 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.65965735 |
| 28 | * BCL6_27268052_Chip-Seq_Bcells_Human | 1.63674683 |
| 29 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.62888719 |
| 30 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.62380728 |
| 31 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.61345506 |
| 32 | * E2F1_20622854_ChIP-Seq_HELA_Human | 1.60030345 |
| 33 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.59668383 |
| 34 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.59657418 |
| 35 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.59619106 |
| 36 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.58784402 |
| 37 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.58597040 |
| 38 | * P68_20966046_ChIP-Seq_HELA_Human | 1.55036548 |
| 39 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.50826123 |
| 40 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.50182321 |
| 41 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.47568446 |
| 42 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.47192481 |
| 43 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.46236955 |
| 44 | * CTCF_20526341_ChIP-Seq_ESCs_Human | 1.45266579 |
| 45 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.43283887 |
| 46 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.43209326 |
| 47 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.39835284 |
| 48 | AR_25329375_ChIP-Seq_VCAP_Human | 1.39435421 |
| 49 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.39014580 |
| 50 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.34870694 |
| 51 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.33800124 |
| 52 | * LXR_22292898_ChIP-Seq_THP-1_Human | 1.32659250 |
| 53 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.32575515 |
| 54 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.32457817 |
| 55 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.31543681 |
| 56 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.30795715 |
| 57 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.29327086 |
| 58 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.29127238 |
| 59 | * SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.28474812 |
| 60 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.26645228 |
| 61 | * P300_27268052_Chip-Seq_Bcells_Human | 1.25462416 |
| 62 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.24742049 |
| 63 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.23625544 |
| 64 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.21942723 |
| 65 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.21571656 |
| 66 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.21405158 |
| 67 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.21034659 |
| 68 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.20557598 |
| 69 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.20388200 |
| 70 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.19560809 |
| 71 | * GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.19496388 |
| 72 | P300_19829295_ChIP-Seq_ESCs_Human | 1.18807914 |
| 73 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.17283748 |
| 74 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.15537494 |
| 75 | SA1_27219007_Chip-Seq_Bcells_Human | 1.15042525 |
| 76 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.13287706 |
| 77 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.13018327 |
| 78 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.12715232 |
| 79 | NFYB_21822215_ChIP-Seq_K562_Human | 1.12634203 |
| 80 | TBL1_22424771_ChIP-Seq_293T_Human | 1.12284750 |
| 81 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.11792769 |
| 82 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.11513474 |
| 83 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.09796280 |
| 84 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.09591941 |
| 85 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.08099187 |
| 86 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.06399871 |
| 87 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.06305272 |
| 88 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.05956395 |
| 89 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.05819310 |
| 90 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.03469809 |
| 91 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.01625983 |
| 92 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.99175376 |
| 93 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.99175376 |
| 94 | HOXB7_26014856_ChIP-Seq_BT474_Human | 0.99004357 |
| 95 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.98506762 |
| 96 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 0.97843536 |
| 97 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 0.97567426 |
| 98 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 0.97417482 |
| 99 | SMAD4_21799915_ChIP-Seq_A2780_Human | 0.96784447 |
| 100 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 0.96506097 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 5.06967937 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 5.06967937 |
| 3 | MP0003698_abnormal_male_reproductive | 4.40740264 |
| 4 | MP0005670_abnormal_white_adipose | 4.37999385 |
| 5 | MP0001348_abnormal_lacrimal_gland | 3.87168724 |
| 6 | MP0001929_abnormal_gametogenesis | 3.78851357 |
| 7 | MP0002161_abnormal_fertility/fecundity | 2.43782382 |
| 8 | MP0000678_abnormal_parathyroid_gland | 2.41166154 |
| 9 | MP0003011_delayed_dark_adaptation | 2.35318067 |
| 10 | MP0003718_maternal_effect | 2.05621223 |
| 11 | MP0005379_endocrine/exocrine_gland_phen | 2.03290053 |
| 12 | MP0005423_abnormal_somatic_nervous | 2.01188736 |
| 13 | MP0005410_abnormal_fertilization | 12.3479779 |
| 14 | MP0002132_abnormal_respiratory_system | 1.92480709 |
| 15 | MP0003646_muscle_fatigue | 1.85207314 |
| 16 | MP0002210_abnormal_sex_determination | 1.67071593 |
| 17 | MP0004742_abnormal_vestibular_system | 1.61403932 |
| 18 | MP0001486_abnormal_startle_reflex | 1.61127657 |
| 19 | MP0001968_abnormal_touch/_nociception | 1.48735454 |
| 20 | MP0001485_abnormal_pinna_reflex | 1.44576472 |
| 21 | MP0002249_abnormal_larynx_morphology | 1.44418928 |
| 22 | MP0002234_abnormal_pharynx_morphology | 1.42108538 |
| 23 | MP0002735_abnormal_chemical_nociception | 1.41635613 |
| 24 | MP0001145_abnormal_male_reproductive | 1.33669868 |
| 25 | MP0002282_abnormal_trachea_morphology | 1.33013978 |
| 26 | MP0004859_abnormal_synaptic_plasticity | 1.31465873 |
| 27 | MP0009053_abnormal_anal_canal | 1.31042399 |
| 28 | MP0005310_abnormal_salivary_gland | 1.28798477 |
| 29 | MP0004510_myositis | 1.28684238 |
| 30 | MP0001765_abnormal_ion_homeostasis | 1.27505038 |
| 31 | MP0000653_abnormal_sex_gland | 1.25998812 |
| 32 | MP0003879_abnormal_hair_cell | 1.24913033 |
| 33 | MP0002138_abnormal_hepatobiliary_system | 1.10604106 |
| 34 | MP0000534_abnormal_ureter_morphology | 1.09994732 |
| 35 | MP0001963_abnormal_hearing_physiology | 1.06632924 |
| 36 | MP0002822_catalepsy | 1.06291188 |
| 37 | MP0005451_abnormal_body_composition | 0.98691242 |
| 38 | MP0002127_abnormal_cardiovascular_syste | 0.98568387 |
| 39 | MP0008877_abnormal_DNA_methylation | 0.98029110 |
| 40 | MP0005248_abnormal_Harderian_gland | 0.97554104 |
| 41 | MP0000026_abnormal_inner_ear | 0.94292198 |
| 42 | MP0008569_lethality_at_weaning | 0.92589188 |
| 43 | MP0005551_abnormal_eye_electrophysiolog | 0.92151648 |
| 44 | MP0002067_abnormal_sensory_capabilities | 0.91029981 |
| 45 | MP0002229_neurodegeneration | 0.88652568 |
| 46 | MP0005083_abnormal_biliary_tract | 0.88340993 |
| 47 | MP0005395_other_phenotype | 0.88111602 |
| 48 | MP0002733_abnormal_thermal_nociception | 0.82521991 |
| 49 | MP0000955_abnormal_spinal_cord | 0.78896764 |
| 50 | MP0005666_abnormal_adipose_tissue | 0.76049997 |
| 51 | MP0009115_abnormal_fat_cell | 0.75874647 |
| 52 | MP0002557_abnormal_social/conspecific_i | 0.75668087 |
| 53 | MP0005253_abnormal_eye_physiology | 0.74900219 |
| 54 | MP0004085_abnormal_heartbeat | 0.74449058 |
| 55 | MP0003880_abnormal_central_pattern | 0.74116512 |
| 56 | MP0002272_abnormal_nervous_system | 0.73691434 |
| 57 | MP0000003_abnormal_adipose_tissue | 0.73578708 |
| 58 | MP0005375_adipose_tissue_phenotype | 0.70266469 |
| 59 | MP0000681_abnormal_thyroid_gland | 0.69861738 |
| 60 | MP0002572_abnormal_emotion/affect_behav | 0.68910895 |
| 61 | MP0001905_abnormal_dopamine_level | 0.68326339 |
| 62 | MP0005367_renal/urinary_system_phenotyp | 0.64826077 |
| 63 | MP0000516_abnormal_urinary_system | 0.64826077 |
| 64 | MP0001440_abnormal_grooming_behavior | 0.64118993 |
| 65 | MP0009745_abnormal_behavioral_response | 0.63919865 |
| 66 | MP0001984_abnormal_olfaction | 0.63531594 |
| 67 | MP0001970_abnormal_pain_threshold | 0.63186703 |
| 68 | MP0003137_abnormal_impulse_conducting | 0.62071447 |
| 69 | MP0004484_altered_response_of | 0.61639911 |
| 70 | MP0009046_muscle_twitch | 0.61616883 |
| 71 | MP0005636_abnormal_mineral_homeostasis | 0.61476747 |
| 72 | MP0005167_abnormal_blood-brain_barrier | 0.59031528 |
| 73 | MP0000049_abnormal_middle_ear | 0.57670929 |
| 74 | MP0003635_abnormal_synaptic_transmissio | 0.55710672 |
| 75 | MP0002734_abnormal_mechanical_nocicepti | 0.55503910 |
| 76 | MP0009697_abnormal_copulation | 0.54370984 |
| 77 | MP0005535_abnormal_body_temperature | 0.54018430 |
| 78 | MP0001501_abnormal_sleep_pattern | 0.52961621 |
| 79 | MP0001879_abnormal_lymphatic_vessel | 0.50219492 |
| 80 | MP0004036_abnormal_muscle_relaxation | 0.49789438 |
| 81 | MP0004233_abnormal_muscle_weight | 0.49771376 |
| 82 | MP0008995_early_reproductive_senescence | 0.47126179 |
| 83 | MP0005084_abnormal_gallbladder_morpholo | 0.44677297 |
| 84 | MP0000470_abnormal_stomach_morphology | 0.44052366 |
| 85 | MP0008961_abnormal_basal_metabolism | 0.43901672 |
| 86 | MP0003077_abnormal_cell_cycle | 0.43347881 |
| 87 | MP0002928_abnormal_bile_duct | 0.41958120 |
| 88 | MP0005623_abnormal_meninges_morphology | 0.39864039 |
| 89 | MP0001666_abnormal_nutrient_absorption | 0.39583699 |
| 90 | MP0003699_abnormal_female_reproductive | 0.36859727 |
| 91 | MP0000230_abnormal_systemic_arterial | 0.36770201 |
| 92 | MP0003119_abnormal_digestive_system | 0.35639572 |
| 93 | MP0000566_synostosis | 0.34822845 |
| 94 | MP0003631_nervous_system_phenotype | 0.34696457 |
| 95 | MP0004270_analgesia | 0.33649052 |
| 96 | MP0002882_abnormal_neuron_morphology | 0.33639467 |
| 97 | MP0010329_abnormal_lipoprotein_level | 0.33317394 |
| 98 | MP0000249_abnormal_blood_vessel | 0.33266964 |
| 99 | MP0003172_abnormal_lysosome_physiology | 0.32775695 |
| 100 | MP0005391_vision/eye_phenotype | 0.32488015 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.45333319 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 6.01509369 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.01509369 |
| 4 | Attenuation of retinal blood vessels (HP:0007843) | 5.59696728 |
| 5 | Asymmetric septal hypertrophy (HP:0001670) | 5.49170806 |
| 6 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.42534082 |
| 7 | Tubulointerstitial nephritis (HP:0001970) | 4.68320045 |
| 8 | Abnormal ciliary motility (HP:0012262) | 4.55639706 |
| 9 | Chronic hepatic failure (HP:0100626) | 4.55107241 |
| 10 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.45583115 |
| 11 | Resting tremor (HP:0002322) | 4.37952214 |
| 12 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.32330066 |
| 13 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.32330066 |
| 14 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.25930822 |
| 15 | Hyperkalemia (HP:0002153) | 4.25124172 |
| 16 | Infertility (HP:0000789) | 4.23880225 |
| 17 | Nasal polyposis (HP:0100582) | 4.23633087 |
| 18 | Male infertility (HP:0003251) | 4.20033710 |
| 19 | Bell-shaped thorax (HP:0001591) | 4.07845122 |
| 20 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.00175456 |
| 21 | Abnormality of macular pigmentation (HP:0008002) | 3.94161431 |
| 22 | Potter facies (HP:0002009) | 3.82402267 |
| 23 | Facial shape deformation (HP:0011334) | 3.82402267 |
| 24 | Cone-rod dystrophy (HP:0000548) | 3.78771168 |
| 25 | Hypoplastic ischia (HP:0003175) | 3.78623312 |
| 26 | Enlarged epiphyses (HP:0010580) | 3.78154321 |
| 27 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.77498055 |
| 28 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.50641011 |
| 29 | Abnormality of the nasal mucosa (HP:0000433) | 3.44627443 |
| 30 | Abnormal spermatogenesis (HP:0008669) | 3.38699677 |
| 31 | Abnormality of the ischium (HP:0003174) | 3.35269788 |
| 32 | Azoospermia (HP:0000027) | 3.33802090 |
| 33 | Progressive cerebellar ataxia (HP:0002073) | 3.26241040 |
| 34 | Impulsivity (HP:0100710) | 3.21145027 |
| 35 | Hypoplasia of the thymus (HP:0000778) | 3.05873205 |
| 36 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.01237347 |
| 37 | Postural instability (HP:0002172) | 3.00113340 |
| 38 | Hypoalphalipoproteinemia (HP:0003233) | 2.89517095 |
| 39 | Progressive sensorineural hearing impairment (HP:0000408) | 2.87438602 |
| 40 | Abnormal urine output (HP:0012590) | 2.84669343 |
| 41 | Unilateral renal agenesis (HP:0000122) | 2.78844512 |
| 42 | Nephronophthisis (HP:0000090) | 2.66149151 |
| 43 | Stage 5 chronic kidney disease (HP:0003774) | 2.65815431 |
| 44 | Abnormality of dental color (HP:0011073) | 2.64603419 |
| 45 | Amelogenesis imperfecta (HP:0000705) | 2.63277195 |
| 46 | Congenital malformation of the right heart (HP:0011723) | 2.61879816 |
| 47 | Double outlet right ventricle (HP:0001719) | 2.61879816 |
| 48 | Abnormality of the costochondral junction (HP:0000919) | 2.59527916 |
| 49 | Rhinitis (HP:0012384) | 2.57344824 |
| 50 | Truncal obesity (HP:0001956) | 2.56062195 |
| 51 | Generalized aminoaciduria (HP:0002909) | 2.53738113 |
| 52 | Abnormality of the aortic arch (HP:0012303) | 2.53312661 |
| 53 | Abnormality of potassium homeostasis (HP:0011042) | 2.48640958 |
| 54 | Abnormal drinking behavior (HP:0030082) | 2.47631292 |
| 55 | Polydipsia (HP:0001959) | 2.47631292 |
| 56 | Abnormality of renal excretion (HP:0011036) | 2.42937535 |
| 57 | Myokymia (HP:0002411) | 2.41638962 |
| 58 | Renal dysplasia (HP:0000110) | 2.40230985 |
| 59 | Portal hypertension (HP:0001409) | 2.38963104 |
| 60 | Menstrual irregularities (HP:0000858) | 2.37465716 |
| 61 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.35531766 |
| 62 | Abnormality of the hepatic vasculature (HP:0006707) | 2.32426032 |
| 63 | Polyuria (HP:0000103) | 2.29745244 |
| 64 | Abnormality of the renal medulla (HP:0100957) | 2.24309463 |
| 65 | Horizontal nystagmus (HP:0000666) | 2.24058499 |
| 66 | Widely patent fontanelles and sutures (HP:0004492) | 2.22630255 |
| 67 | Renovascular hypertension (HP:0100817) | 2.22196860 |
| 68 | Tubulointerstitial abnormality (HP:0001969) | 2.21074983 |
| 69 | Atonic seizures (HP:0010819) | 2.20901250 |
| 70 | Decreased central vision (HP:0007663) | 2.18901054 |
| 71 | Renal Fanconi syndrome (HP:0001994) | 2.12431194 |
| 72 | Ventricular tachycardia (HP:0004756) | 2.12272456 |
| 73 | Epiphyseal dysplasia (HP:0002656) | 2.07174642 |
| 74 | Flattened epiphyses (HP:0003071) | 2.05519990 |
| 75 | Hyponatremia (HP:0002902) | 2.05198183 |
| 76 | Hypophosphatemic rickets (HP:0004912) | 2.02193747 |
| 77 | Abnormality of the parathyroid morphology (HP:0011766) | 2.01674750 |
| 78 | Bronchiectasis (HP:0002110) | 1.98635659 |
| 79 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.95847382 |
| 80 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.93423375 |
| 81 | Absent epiphyses (HP:0010577) | 1.93423375 |
| 82 | Osteomalacia (HP:0002749) | 1.92327399 |
| 83 | Abnormality of the pubic bones (HP:0003172) | 1.90220971 |
| 84 | Chronic bronchitis (HP:0004469) | 1.87724380 |
| 85 | Focal segmental glomerulosclerosis (HP:0000097) | 1.87487473 |
| 86 | Intellectual disability, moderate (HP:0002342) | 1.84196624 |
| 87 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 1.84052794 |
| 88 | Tetany (HP:0001281) | 1.83396152 |
| 89 | Abnormality of femoral epiphyses (HP:0006499) | 1.81553724 |
| 90 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.81553724 |
| 91 | Bradycardia (HP:0001662) | 1.81295829 |
| 92 | Spastic paraparesis (HP:0002313) | 1.80277787 |
| 93 | Sensory axonal neuropathy (HP:0003390) | 1.79593527 |
| 94 | Photophobia (HP:0000613) | 1.79368196 |
| 95 | Optic nerve hypoplasia (HP:0000609) | 1.77979227 |
| 96 | Abnormal albumin level (HP:0012116) | 1.77157198 |
| 97 | Hypoalbuminemia (HP:0003073) | 1.77157198 |
| 98 | Progressive hearing impairment (HP:0001730) | 1.77153252 |
| 99 | Amblyopia (HP:0000646) | 1.77115683 |
| 100 | Flat capital femoral epiphysis (HP:0003370) | 1.76961396 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.59364897 |
| 2 | TESK1 | 5.83634265 |
| 3 | DDR2 | 4.70580062 |
| 4 | INSRR | 3.92973465 |
| 5 | MAP4K2 | 3.58728964 |
| 6 | BRD4 | 3.24178566 |
| 7 | PLK2 | 3.20402699 |
| 8 | STK38 | 3.14961036 |
| 9 | PNCK | 2.80690096 |
| 10 | MAPK15 | 2.78043085 |
| 11 | CAMK1G | 2.24004479 |
| 12 | PRKD3 | 2.19549937 |
| 13 | STK38L | 2.14183033 |
| 14 | WNK1 | 1.91180327 |
| 15 | PIK3CG | 1.81832262 |
| 16 | MST1R | 1.66455148 |
| 17 | PDPK1 | 1.66035468 |
| 18 | PDK1 | 1.61249658 |
| 19 | DYRK1B | 1.40797115 |
| 20 | MAP3K9 | 1.39385856 |
| 21 | CDK12 | 1.38226715 |
| 22 | NEK6 | 1.24703384 |
| 23 | CDK7 | 1.20715317 |
| 24 | PTK2B | 1.16420084 |
| 25 | KSR2 | 1.03681581 |
| 26 | LATS2 | 0.94179537 |
| 27 | PRKG2 | 0.89634041 |
| 28 | SIK2 | 0.85116160 |
| 29 | AKT3 | 0.84751522 |
| 30 | CAMK1D | 0.83605014 |
| 31 | TYRO3 | 0.79748059 |
| 32 | MAP3K11 | 0.79085823 |
| 33 | BRAF | 0.76950200 |
| 34 | UHMK1 | 0.75364330 |
| 35 | PRKG1 | 0.74990721 |
| 36 | RPS6KA2 | 0.67515003 |
| 37 | MUSK | 0.67284167 |
| 38 | WNK4 | 0.66943719 |
| 39 | PRKAA2 | 0.65068819 |
| 40 | RPS6KA1 | 0.55991452 |
| 41 | MAP2K2 | 0.54859466 |
| 42 | CDK3 | 0.54827682 |
| 43 | ARAF | 0.54514986 |
| 44 | CAMK1 | 0.53290478 |
| 45 | ROCK1 | 0.49128687 |
| 46 | MAP3K8 | 0.47863579 |
| 47 | MAP3K2 | 0.47829597 |
| 48 | STK39 | 0.45881184 |
| 49 | NTRK3 | 0.44622079 |
| 50 | GSK3B | 0.44530223 |
| 51 | CDK2 | 0.41387950 |
| 52 | MAPK1 | 0.40737114 |
| 53 | PRKCG | 0.39938795 |
| 54 | CDK1 | 0.39657504 |
| 55 | LATS1 | 0.39639359 |
| 56 | SGK494 | 0.39586694 |
| 57 | SGK223 | 0.39586694 |
| 58 | MARK1 | 0.39133363 |
| 59 | MAP3K1 | 0.37779393 |
| 60 | MTOR | 0.37240620 |
| 61 | CDK4 | 0.36487357 |
| 62 | MAPK8 | 0.35783916 |
| 63 | TNIK | 0.35360273 |
| 64 | CAMK4 | 0.35342332 |
| 65 | RPS6KL1 | 0.35191047 |
| 66 | RPS6KC1 | 0.35191047 |
| 67 | TIE1 | 0.34302189 |
| 68 | RPS6KA6 | 0.33618212 |
| 69 | TESK2 | 0.32936064 |
| 70 | BMPR1B | 0.32262773 |
| 71 | MAP3K4 | 0.30625238 |
| 72 | BLK | 0.30187568 |
| 73 | PRKCZ | 0.28814297 |
| 74 | MARK2 | 0.28669055 |
| 75 | SGK1 | 0.28273036 |
| 76 | CHEK1 | 0.25936049 |
| 77 | FRK | 0.23995542 |
| 78 | PRKCB | 0.23698469 |
| 79 | MAPK14 | 0.23315737 |
| 80 | MAPK10 | 0.22542486 |
| 81 | MAPK11 | 0.20389213 |
| 82 | RIPK4 | 0.17519754 |
| 83 | BRSK1 | 0.16779284 |
| 84 | MET | 0.15735740 |
| 85 | PKN1 | 0.15188937 |
| 86 | OXSR1 | 0.14887417 |
| 87 | AKT1 | 0.14237221 |
| 88 | ADRBK2 | 0.13955462 |
| 89 | PRKACA | 0.12709691 |
| 90 | MAP3K13 | 0.12148796 |
| 91 | IKBKB | 0.10711749 |
| 92 | FER | 0.10388987 |
| 93 | PRKAA1 | 0.10351230 |
| 94 | CAMK2A | 0.10300532 |
| 95 | PRKACB | 0.10225743 |
| 96 | PRKCE | 0.09694333 |
| 97 | DYRK3 | 0.08877650 |
| 98 | JAK3 | 0.08627370 |
| 99 | SGK2 | 0.08101480 |
| 100 | PRKCA | 0.07122293 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.68182400 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.55810217 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.78981236 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.53406309 |
| 5 | Taste transduction_Homo sapiens_hsa04742 | 2.09334909 |
| 6 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.09118315 |
| 7 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.90095848 |
| 8 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.89949369 |
| 9 | Allograft rejection_Homo sapiens_hsa05330 | 1.80074530 |
| 10 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.76945562 |
| 11 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.75353058 |
| 12 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.66876911 |
| 13 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.58350479 |
| 14 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.57177081 |
| 15 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.56504583 |
| 16 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.43969817 |
| 17 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.38714790 |
| 18 | RNA transport_Homo sapiens_hsa03013 | 1.30542018 |
| 19 | Phototransduction_Homo sapiens_hsa04744 | 1.27915981 |
| 20 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.27620752 |
| 21 | Viral myocarditis_Homo sapiens_hsa05416 | 1.27302178 |
| 22 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.21768687 |
| 23 | Morphine addiction_Homo sapiens_hsa05032 | 1.21599095 |
| 24 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.21135723 |
| 25 | Salivary secretion_Homo sapiens_hsa04970 | 1.19875628 |
| 26 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.16239046 |
| 27 | Endocytosis_Homo sapiens_hsa04144 | 1.12267421 |
| 28 | Nicotine addiction_Homo sapiens_hsa05033 | 1.12258697 |
| 29 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.08902034 |
| 30 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.07276523 |
| 31 | Circadian entrainment_Homo sapiens_hsa04713 | 1.06127167 |
| 32 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.05785989 |
| 33 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.05705418 |
| 34 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.05658545 |
| 35 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.02869130 |
| 36 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.00468676 |
| 37 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.00409982 |
| 38 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.97139457 |
| 39 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.96807524 |
| 40 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.93890088 |
| 41 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.92823884 |
| 42 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.92651811 |
| 43 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.91345315 |
| 44 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.85080937 |
| 45 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.84945752 |
| 46 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.84197116 |
| 47 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.82872060 |
| 48 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.81544641 |
| 49 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.78544827 |
| 50 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.77434631 |
| 51 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.76819297 |
| 52 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.75781048 |
| 53 | ABC transporters_Homo sapiens_hsa02010 | 0.75353542 |
| 54 | Influenza A_Homo sapiens_hsa05164 | 0.74626104 |
| 55 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.74386575 |
| 56 | GABAergic synapse_Homo sapiens_hsa04727 | 0.69938249 |
| 57 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.69285267 |
| 58 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.68962480 |
| 59 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.68687710 |
| 60 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.68591594 |
| 61 | Renin secretion_Homo sapiens_hsa04924 | 0.67321371 |
| 62 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.66827143 |
| 63 | Insulin secretion_Homo sapiens_hsa04911 | 0.66239621 |
| 64 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.64539218 |
| 65 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.64088166 |
| 66 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.62048160 |
| 67 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.56882480 |
| 68 | Retinol metabolism_Homo sapiens_hsa00830 | 0.56304196 |
| 69 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.56079543 |
| 70 | Long-term potentiation_Homo sapiens_hsa04720 | 0.55686555 |
| 71 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.55137809 |
| 72 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.54555796 |
| 73 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.53969459 |
| 74 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.53480318 |
| 75 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.52956437 |
| 76 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.47178899 |
| 77 | Bile secretion_Homo sapiens_hsa04976 | 0.45266719 |
| 78 | Long-term depression_Homo sapiens_hsa04730 | 0.41683701 |
| 79 | Basal transcription factors_Homo sapiens_hsa03022 | 0.40659051 |
| 80 | Purine metabolism_Homo sapiens_hsa00230 | 0.37766034 |
| 81 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.37614262 |
| 82 | Tight junction_Homo sapiens_hsa04530 | 0.33757423 |
| 83 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.32863934 |
| 84 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.32776321 |
| 85 | Circadian rhythm_Homo sapiens_hsa04710 | 0.30850764 |
| 86 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.30787724 |
| 87 | Huntingtons disease_Homo sapiens_hsa05016 | 0.27372598 |
| 88 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.27283260 |
| 89 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.27148844 |
| 90 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.26495520 |
| 91 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.24691918 |
| 92 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.22299021 |
| 93 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.14371626 |
| 94 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.14054063 |
| 95 | Cocaine addiction_Homo sapiens_hsa05030 | 0.14043356 |
| 96 | Sulfur relay system_Homo sapiens_hsa04122 | 0.13921654 |
| 97 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.13371451 |
| 98 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.11991890 |
| 99 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.11068363 |
| 100 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.10542464 |

