

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.98325712 |
| 2 | spermatid development (GO:0007286) | 9.18155663 |
| 3 | sperm capacitation (GO:0048240) | 8.20628286 |
| 4 | multicellular organism reproduction (GO:0032504) | 8.10508621 |
| 5 | response to pheromone (GO:0019236) | 7.99643122 |
| 6 | sperm-egg recognition (GO:0035036) | 7.76666889 |
| 7 | plasma membrane fusion (GO:0045026) | 7.70357059 |
| 8 | spermatid nucleus differentiation (GO:0007289) | 7.27573053 |
| 9 | binding of sperm to zona pellucida (GO:0007339) | 7.16359669 |
| 10 | reproduction (GO:0000003) | 7.01470540 |
| 11 | chromosome condensation (GO:0030261) | 7.00649359 |
| 12 | axonemal dynein complex assembly (GO:0070286) | 6.91880376 |
| 13 | single strand break repair (GO:0000012) | 6.88360630 |
| 14 | DNA packaging (GO:0006323) | 6.82672182 |
| 15 | cell-cell recognition (GO:0009988) | 6.50774061 |
| 16 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.49115851 |
| 17 | microtubule depolymerization (GO:0007019) | 6.41891462 |
| 18 | rRNA methylation (GO:0031167) | 6.23920291 |
| 19 | calcium ion-dependent exocytosis (GO:0017156) | 6.22087415 |
| 20 | protein polyglutamylation (GO:0018095) | 6.13056214 |
| 21 | motile cilium assembly (GO:0044458) | 6.10356761 |
| 22 | phosphatidylethanolamine metabolic process (GO:0046337) | 6.03305644 |
| 23 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.83625661 |
| 24 | regulation of cilium movement (GO:0003352) | 5.78063426 |
| 25 | negative regulation of inclusion body assembly (GO:0090084) | 5.70601103 |
| 26 | spermatogenesis (GO:0007283) | 5.47926953 |
| 27 | male gamete generation (GO:0048232) | 5.46020831 |
| 28 | rRNA modification (GO:0000154) | 5.45113940 |
| 29 | protein targeting to Golgi (GO:0000042) | 5.35832334 |
| 30 | cellular ketone body metabolic process (GO:0046950) | 5.32341483 |
| 31 | organic cation transport (GO:0015695) | 5.31962191 |
| 32 | single fertilization (GO:0007338) | 5.27065202 |
| 33 | establishment of protein localization to Golgi (GO:0072600) | 5.14404869 |
| 34 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 5.13986642 |
| 35 | sexual reproduction (GO:0019953) | 5.09494162 |
| 36 | germ cell development (GO:0007281) | 5.07178553 |
| 37 | epithelial cilium movement (GO:0003351) | 5.06104797 |
| 38 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.00249872 |
| 39 | gamete generation (GO:0007276) | 4.99096068 |
| 40 | microtubule polymerization or depolymerization (GO:0031109) | 4.97331003 |
| 41 | regulation of Rab GTPase activity (GO:0032313) | 4.69492600 |
| 42 | positive regulation of Rab GTPase activity (GO:0032851) | 4.69492600 |
| 43 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.68073308 |
| 44 | ketone body metabolic process (GO:1902224) | 4.66958739 |
| 45 | microtubule severing (GO:0051013) | 4.65965342 |
| 46 | male meiosis (GO:0007140) | 4.61521772 |
| 47 | protein-DNA complex disassembly (GO:0032986) | 4.60985343 |
| 48 | nucleosome disassembly (GO:0006337) | 4.60985343 |
| 49 | centriole replication (GO:0007099) | 4.60777280 |
| 50 | centriole assembly (GO:0098534) | 4.59679593 |
| 51 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.52525730 |
| 52 | coenzyme catabolic process (GO:0009109) | 4.50765763 |
| 53 | cilium movement (GO:0003341) | 4.40655120 |
| 54 | fertilization (GO:0009566) | 4.31985397 |
| 55 | RNA destabilization (GO:0050779) | 4.28993397 |
| 56 | polyamine biosynthetic process (GO:0006596) | 4.25784658 |
| 57 | protein localization to Golgi apparatus (GO:0034067) | 4.06076190 |
| 58 | regulation of microtubule-based movement (GO:0060632) | 4.02644505 |
| 59 | multicellular organismal reproductive process (GO:0048609) | 3.99971743 |
| 60 | seminiferous tubule development (GO:0072520) | 3.96180888 |
| 61 | regulation of inclusion body assembly (GO:0090083) | 3.89782032 |
| 62 | cell wall macromolecule metabolic process (GO:0044036) | 3.88445762 |
| 63 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.79371633 |
| 64 | cell wall macromolecule catabolic process (GO:0016998) | 3.76578746 |
| 65 | response to acidic pH (GO:0010447) | 3.74096166 |
| 66 | regulation of somitogenesis (GO:0014807) | 3.71800408 |
| 67 | chromatin silencing (GO:0006342) | 3.66430820 |
| 68 | NAD biosynthetic process (GO:0009435) | 3.49820072 |
| 69 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.42883740 |
| 70 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 3.38482206 |
| 71 | nucleus organization (GO:0006997) | 3.33791925 |
| 72 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.31748420 |
| 73 | positive regulation of catecholamine secretion (GO:0033605) | 3.21657167 |
| 74 | cellular response to pH (GO:0071467) | 3.17744503 |
| 75 | piRNA metabolic process (GO:0034587) | 3.14967900 |
| 76 | positive regulation of guanylate cyclase activity (GO:0031284) | 3.11089670 |
| 77 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.08610580 |
| 78 | histone exchange (GO:0043486) | 3.05126057 |
| 79 | cell recognition (GO:0008037) | 3.03810890 |
| 80 | cranial nerve morphogenesis (GO:0021602) | 3.00614832 |
| 81 | amine biosynthetic process (GO:0009309) | 2.99526931 |
| 82 | cellular biogenic amine biosynthetic process (GO:0042401) | 2.99001515 |
| 83 | male meiosis I (GO:0007141) | 2.98278206 |
| 84 | DNA methylation involved in gamete generation (GO:0043046) | 2.97183939 |
| 85 | multicellular organismal development (GO:0007275) | 2.96096878 |
| 86 | cerebral cortex neuron differentiation (GO:0021895) | 2.93232528 |
| 87 | ventricular system development (GO:0021591) | 2.92482228 |
| 88 | regulation of guanylate cyclase activity (GO:0031282) | 2.91878798 |
| 89 | multicellular organismal movement (GO:0050879) | 2.86722758 |
| 90 | musculoskeletal movement (GO:0050881) | 2.86722758 |
| 91 | regulation of centriole replication (GO:0046599) | 2.86080677 |
| 92 | mast cell activation involved in immune response (GO:0002279) | 2.83463766 |
| 93 | mast cell degranulation (GO:0043303) | 2.83463766 |
| 94 | histone H3-K9 demethylation (GO:0033169) | 2.80731119 |
| 95 | male sex determination (GO:0030238) | 2.78626175 |
| 96 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.77512517 |
| 97 | axoneme assembly (GO:0035082) | 2.76383153 |
| 98 | homeostasis of number of cells within a tissue (GO:0048873) | 2.75708062 |
| 99 | acrosome reaction (GO:0007340) | 11.8997070 |
| 100 | sperm motility (GO:0030317) | 11.8878019 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 4.20281556 |
| 2 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 4.06981682 |
| 3 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.95551473 |
| 4 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.75083673 |
| 5 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.46303160 |
| 6 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.41767947 |
| 7 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.28146010 |
| 8 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.28146010 |
| 9 | NANOG_20526341_ChIP-Seq_ESCs_Human | 2.22953968 |
| 10 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.21056379 |
| 11 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.18481954 |
| 12 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.18481954 |
| 13 | ERA_21632823_ChIP-Seq_H3396_Human | 2.16959906 |
| 14 | RAC3_21632823_ChIP-Seq_H3396_Human | 2.12578468 |
| 15 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.11550414 |
| 16 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.08674297 |
| 17 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 2.07524757 |
| 18 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 2.06145263 |
| 19 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 2.02581705 |
| 20 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.99631366 |
| 21 | FUS_26573619_Chip-Seq_HEK293_Human | 1.99567461 |
| 22 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.91081129 |
| 23 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.90613606 |
| 24 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.85993844 |
| 25 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.78876642 |
| 26 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.78532019 |
| 27 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.77513881 |
| 28 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.76072759 |
| 29 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.72359335 |
| 30 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.69742712 |
| 31 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.68925248 |
| 32 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.68717794 |
| 33 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.66272083 |
| 34 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.64447666 |
| 35 | P300_27268052_Chip-Seq_Bcells_Human | 1.64444304 |
| 36 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.63163461 |
| 37 | P68_20966046_ChIP-Seq_HELA_Human | 1.60726597 |
| 38 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.59084738 |
| 39 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.56980285 |
| 40 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.55516868 |
| 41 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.55119397 |
| 42 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.55027822 |
| 43 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.53909349 |
| 44 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.49670280 |
| 45 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.48798247 |
| 46 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.48289045 |
| 47 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.47753111 |
| 48 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.44382894 |
| 49 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.44299290 |
| 50 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.43197018 |
| 51 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.42921863 |
| 52 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.40780248 |
| 53 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.39232126 |
| 54 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.37573086 |
| 55 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.37169588 |
| 56 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.36952914 |
| 57 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.34638263 |
| 58 | AR_25329375_ChIP-Seq_VCAP_Human | 1.33556770 |
| 59 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.31226252 |
| 60 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.30457030 |
| 61 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.29426020 |
| 62 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.28891700 |
| 63 | P300_19829295_ChIP-Seq_ESCs_Human | 1.27741353 |
| 64 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.26376996 |
| 65 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.24654942 |
| 66 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.24654942 |
| 67 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.24504855 |
| 68 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.23995572 |
| 69 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.23955368 |
| 70 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.20861431 |
| 71 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.20310887 |
| 72 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.19925580 |
| 73 | TBL1_22424771_ChIP-Seq_293T_Human | 1.18958076 |
| 74 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.17634804 |
| 75 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 1.14703729 |
| 76 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.14533014 |
| 77 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.14096740 |
| 78 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.13022485 |
| 79 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.12932179 |
| 80 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.11981009 |
| 81 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.11473272 |
| 82 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.10902359 |
| 83 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.10158159 |
| 84 | NCOR_22424771_ChIP-Seq_293T_Human | 1.09174852 |
| 85 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.08330018 |
| 86 | NFYB_21822215_ChIP-Seq_K562_Human | 1.08043879 |
| 87 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.07933537 |
| 88 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.03959373 |
| 89 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.03628750 |
| 90 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.02959037 |
| 91 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.02580941 |
| 92 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.01807642 |
| 93 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.01358554 |
| 94 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.00657266 |
| 95 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.00490465 |
| 96 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.00355496 |
| 97 | STAT1_20625510_ChIP-Seq_HELA_Human | 1.00313935 |
| 98 | TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.99840523 |
| 99 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.99755580 |
| 100 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.99533479 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 4.45679733 |
| 2 | MP0001929_abnormal_gametogenesis | 3.88919445 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 3.76058615 |
| 4 | MP0003878_abnormal_ear_physiology | 3.76058615 |
| 5 | MP0005670_abnormal_white_adipose | 3.60633508 |
| 6 | MP0002138_abnormal_hepatobiliary_system | 2.60877999 |
| 7 | MP0002132_abnormal_respiratory_system | 2.42758477 |
| 8 | MP0002161_abnormal_fertility/fecundity | 2.41433237 |
| 9 | MP0003646_muscle_fatigue | 2.19553214 |
| 10 | MP0000678_abnormal_parathyroid_gland | 2.11848823 |
| 11 | MP0001348_abnormal_lacrimal_gland | 2.10780084 |
| 12 | MP0005410_abnormal_fertilization | 12.0085068 |
| 13 | MP0003718_maternal_effect | 1.94902282 |
| 14 | MP0001968_abnormal_touch/_nociception | 1.89203387 |
| 15 | MP0002210_abnormal_sex_determination | 1.87698307 |
| 16 | MP0009697_abnormal_copulation | 1.73630045 |
| 17 | MP0001145_abnormal_male_reproductive | 1.63228269 |
| 18 | MP0008004_abnormal_stomach_pH | 1.58492516 |
| 19 | MP0000653_abnormal_sex_gland | 1.55278364 |
| 20 | MP0001905_abnormal_dopamine_level | 1.41019185 |
| 21 | MP0001485_abnormal_pinna_reflex | 1.38715323 |
| 22 | MP0008877_abnormal_DNA_methylation | 1.28316034 |
| 23 | MP0002249_abnormal_larynx_morphology | 1.27547730 |
| 24 | MP0002653_abnormal_ependyma_morphology | 1.26125371 |
| 25 | MP0002160_abnormal_reproductive_system | 1.25307592 |
| 26 | MP0005551_abnormal_eye_electrophysiolog | 1.24378160 |
| 27 | MP0002127_abnormal_cardiovascular_syste | 1.23620543 |
| 28 | MP0001486_abnormal_startle_reflex | 1.19641403 |
| 29 | MP0003011_delayed_dark_adaptation | 1.14089854 |
| 30 | MP0005379_endocrine/exocrine_gland_phen | 1.13214745 |
| 31 | MP0001765_abnormal_ion_homeostasis | 1.11913238 |
| 32 | MP0008995_early_reproductive_senescence | 1.11667036 |
| 33 | MP0001501_abnormal_sleep_pattern | 1.06996058 |
| 34 | MP0002735_abnormal_chemical_nociception | 1.06740102 |
| 35 | MP0003315_abnormal_perineum_morphology | 1.02452081 |
| 36 | MP0010386_abnormal_urinary_bladder | 1.02059938 |
| 37 | MP0002282_abnormal_trachea_morphology | 1.00776564 |
| 38 | MP0002822_catalepsy | 0.99437215 |
| 39 | MP0002234_abnormal_pharynx_morphology | 0.98967749 |
| 40 | MP0001984_abnormal_olfaction | 0.98066819 |
| 41 | MP0005423_abnormal_somatic_nervous | 0.97081362 |
| 42 | MP0005084_abnormal_gallbladder_morpholo | 0.96847255 |
| 43 | MP0005253_abnormal_eye_physiology | 0.96194768 |
| 44 | MP0001963_abnormal_hearing_physiology | 0.90382330 |
| 45 | MP0004085_abnormal_heartbeat | 0.90169738 |
| 46 | MP0005395_other_phenotype | 0.86968723 |
| 47 | MP0002229_neurodegeneration | 0.86781161 |
| 48 | MP0005167_abnormal_blood-brain_barrier | 0.86124556 |
| 49 | MP0004859_abnormal_synaptic_plasticity | 0.85448046 |
| 50 | MP0000230_abnormal_systemic_arterial | 0.85408096 |
| 51 | MP0005646_abnormal_pituitary_gland | 0.80765125 |
| 52 | MP0006036_abnormal_mitochondrial_physio | 0.79660626 |
| 53 | MP0004484_altered_response_of | 0.79394389 |
| 54 | MP0000026_abnormal_inner_ear | 0.78927456 |
| 55 | MP0002272_abnormal_nervous_system | 0.78692668 |
| 56 | MP0005647_abnormal_sex_gland | 0.77497880 |
| 57 | MP0002733_abnormal_thermal_nociception | 0.75525081 |
| 58 | MP0003879_abnormal_hair_cell | 0.74041180 |
| 59 | MP0000681_abnormal_thyroid_gland | 0.73745490 |
| 60 | MP0002067_abnormal_sensory_capabilities | 0.72040748 |
| 61 | MP0002557_abnormal_social/conspecific_i | 0.72035783 |
| 62 | MP0009745_abnormal_behavioral_response | 0.69893365 |
| 63 | MP0010368_abnormal_lymphatic_system | 0.66022240 |
| 64 | MP0004742_abnormal_vestibular_system | 0.65876947 |
| 65 | MP0005394_taste/olfaction_phenotype | 0.65684432 |
| 66 | MP0005499_abnormal_olfactory_system | 0.65684432 |
| 67 | MP0005636_abnormal_mineral_homeostasis | 0.65215910 |
| 68 | MP0002572_abnormal_emotion/affect_behav | 0.64556860 |
| 69 | MP0003136_yellow_coat_color | 0.64410833 |
| 70 | MP0001970_abnormal_pain_threshold | 0.63634383 |
| 71 | MP0005310_abnormal_salivary_gland | 0.63621054 |
| 72 | MP0004036_abnormal_muscle_relaxation | 0.62606712 |
| 73 | MP0002102_abnormal_ear_morphology | 0.62152221 |
| 74 | MP0009115_abnormal_fat_cell | 0.60144067 |
| 75 | MP0008872_abnormal_physiological_respon | 0.59794662 |
| 76 | MP0006072_abnormal_retinal_apoptosis | 0.59199363 |
| 77 | MP0006276_abnormal_autonomic_nervous | 0.58400704 |
| 78 | MP0000955_abnormal_spinal_cord | 0.57639958 |
| 79 | MP0000613_abnormal_salivary_gland | 0.57151682 |
| 80 | MP0008569_lethality_at_weaning | 0.56771078 |
| 81 | MP0005645_abnormal_hypothalamus_physiol | 0.56640049 |
| 82 | MP0000534_abnormal_ureter_morphology | 0.56148269 |
| 83 | MP0000470_abnormal_stomach_morphology | 0.55353738 |
| 84 | MP0001664_abnormal_digestion | 0.54459201 |
| 85 | MP0005083_abnormal_biliary_tract | 0.53930838 |
| 86 | MP0006292_abnormal_olfactory_placode | 0.53628976 |
| 87 | MP0000516_abnormal_urinary_system | 0.53206927 |
| 88 | MP0005367_renal/urinary_system_phenotyp | 0.53206927 |
| 89 | MP0005360_urolithiasis | 0.53080202 |
| 90 | MP0003045_fibrosis | 0.52664982 |
| 91 | MP0002837_dystrophic_cardiac_calcinosis | 0.52145632 |
| 92 | MP0003631_nervous_system_phenotype | 0.51146820 |
| 93 | MP0003936_abnormal_reproductive_system | 0.50785795 |
| 94 | MP0003137_abnormal_impulse_conducting | 0.49056231 |
| 95 | MP0005389_reproductive_system_phenotype | 0.48471457 |
| 96 | MP0001879_abnormal_lymphatic_vessel | 0.47255708 |
| 97 | MP0005397_hematopoietic_system_phenotyp | 0.47148044 |
| 98 | MP0001545_abnormal_hematopoietic_system | 0.47148044 |
| 99 | MP0002734_abnormal_mechanical_nocicepti | 0.46558988 |
| 100 | MP0002736_abnormal_nociception_after | 0.45943489 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 6.44532036 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 6.25500787 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.25500787 |
| 4 | Abnormal respiratory motile cilium physiology (HP:0012261) | 5.12566617 |
| 5 | Abnormal ciliary motility (HP:0012262) | 5.05782296 |
| 6 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.98823835 |
| 7 | Attenuation of retinal blood vessels (HP:0007843) | 4.93544761 |
| 8 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.74052742 |
| 9 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.74052742 |
| 10 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.65947014 |
| 11 | Infertility (HP:0000789) | 4.53596631 |
| 12 | Resting tremor (HP:0002322) | 4.52124359 |
| 13 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.27897271 |
| 14 | Asymmetric septal hypertrophy (HP:0001670) | 3.78938382 |
| 15 | Tubulointerstitial nephritis (HP:0001970) | 3.77485424 |
| 16 | Chronic hepatic failure (HP:0100626) | 3.66655430 |
| 17 | Azoospermia (HP:0000027) | 3.51084065 |
| 18 | Postural instability (HP:0002172) | 3.43514603 |
| 19 | Nasal polyposis (HP:0100582) | 3.39307680 |
| 20 | Abnormality of macular pigmentation (HP:0008002) | 3.36606468 |
| 21 | Cerebellar dysplasia (HP:0007033) | 3.31591929 |
| 22 | Abnormal spermatogenesis (HP:0008669) | 3.29667251 |
| 23 | Bell-shaped thorax (HP:0001591) | 3.26105275 |
| 24 | Polydipsia (HP:0001959) | 3.26092917 |
| 25 | Abnormal drinking behavior (HP:0030082) | 3.26092917 |
| 26 | Nephronophthisis (HP:0000090) | 3.20224401 |
| 27 | Potter facies (HP:0002009) | 3.19953730 |
| 28 | Facial shape deformation (HP:0011334) | 3.19953730 |
| 29 | Hyperkalemia (HP:0002153) | 3.13379969 |
| 30 | Male infertility (HP:0003251) | 3.10482542 |
| 31 | Abnormal urine output (HP:0012590) | 3.10058685 |
| 32 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.07607512 |
| 33 | Rhinitis (HP:0012384) | 3.03717547 |
| 34 | Occipital encephalocele (HP:0002085) | 2.94174445 |
| 35 | Hypoplasia of the thymus (HP:0000778) | 2.90988544 |
| 36 | Type II lissencephaly (HP:0007260) | 2.88553181 |
| 37 | Polyuria (HP:0000103) | 2.80284643 |
| 38 | Generalized aminoaciduria (HP:0002909) | 2.74178375 |
| 39 | Abnormality of renal excretion (HP:0011036) | 2.72408866 |
| 40 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.70150571 |
| 41 | Pancreatic cysts (HP:0001737) | 2.66649970 |
| 42 | Abnormality of the nasal mucosa (HP:0000433) | 2.66572421 |
| 43 | Hypoplastic ischia (HP:0003175) | 2.65653556 |
| 44 | Enlarged epiphyses (HP:0010580) | 2.65600802 |
| 45 | Pancreatic fibrosis (HP:0100732) | 2.65578357 |
| 46 | Impulsivity (HP:0100710) | 2.59848877 |
| 47 | Male pseudohermaphroditism (HP:0000037) | 2.56018688 |
| 48 | Abnormality of the renal medulla (HP:0100957) | 2.55984953 |
| 49 | Bronchiectasis (HP:0002110) | 2.52788281 |
| 50 | Renal dysplasia (HP:0000110) | 2.50978440 |
| 51 | Reduced antithrombin III activity (HP:0001976) | 2.46861482 |
| 52 | Abnormal sex determination (HP:0012244) | 2.42298164 |
| 53 | Sex reversal (HP:0012245) | 2.42298164 |
| 54 | Abnormality of the ischium (HP:0003174) | 2.34882084 |
| 55 | Abnormality of the aortic arch (HP:0012303) | 2.33733528 |
| 56 | Amelogenesis imperfecta (HP:0000705) | 2.27290403 |
| 57 | True hermaphroditism (HP:0010459) | 2.27263518 |
| 58 | Cone-rod dystrophy (HP:0000548) | 2.20720754 |
| 59 | Chronic bronchitis (HP:0004469) | 2.20319993 |
| 60 | Tetany (HP:0001281) | 2.18002218 |
| 61 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.16499911 |
| 62 | Cystic liver disease (HP:0006706) | 2.16438522 |
| 63 | Progressive cerebellar ataxia (HP:0002073) | 2.16199705 |
| 64 | Abnormality of potassium homeostasis (HP:0011042) | 2.16128295 |
| 65 | Abnormality of the columella (HP:0009929) | 2.16096715 |
| 66 | Stage 5 chronic kidney disease (HP:0003774) | 2.15333978 |
| 67 | Congenital sensorineural hearing impairment (HP:0008527) | 2.13368494 |
| 68 | Retinal dysplasia (HP:0007973) | 2.11264263 |
| 69 | Anterior segment dysgenesis (HP:0007700) | 2.09923639 |
| 70 | Recurrent corneal erosions (HP:0000495) | 2.09110533 |
| 71 | Abnormality of dental color (HP:0011073) | 2.05163933 |
| 72 | Abnormal biliary tract physiology (HP:0012439) | 2.04942782 |
| 73 | Bile duct proliferation (HP:0001408) | 2.04942782 |
| 74 | Optic nerve hypoplasia (HP:0000609) | 2.04579607 |
| 75 | Unilateral renal agenesis (HP:0000122) | 2.02153020 |
| 76 | Portal hypertension (HP:0001409) | 2.02116068 |
| 77 | Renal Fanconi syndrome (HP:0001994) | 2.00550737 |
| 78 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 2.00185856 |
| 79 | Hypoplasia of the uterus (HP:0000013) | 1.99798716 |
| 80 | Photophobia (HP:0000613) | 1.99380471 |
| 81 | Abnormality of the costochondral junction (HP:0000919) | 1.98998198 |
| 82 | Sensory axonal neuropathy (HP:0003390) | 1.97697456 |
| 83 | Spastic paraparesis (HP:0002313) | 1.95318465 |
| 84 | Tubulointerstitial abnormality (HP:0001969) | 1.94135548 |
| 85 | Gonadal dysgenesis (HP:0000133) | 1.93989956 |
| 86 | Abnormality of the hepatic vasculature (HP:0006707) | 1.88742052 |
| 87 | Myoglobinuria (HP:0002913) | 1.86341459 |
| 88 | Congenital stationary night blindness (HP:0007642) | 1.85808129 |
| 89 | Sclerocornea (HP:0000647) | 1.82601128 |
| 90 | Type II diabetes mellitus (HP:0005978) | 1.81839484 |
| 91 | Glycosuria (HP:0003076) | 1.78120580 |
| 92 | Abnormality of urine glucose concentration (HP:0011016) | 1.78120580 |
| 93 | Bulbous nose (HP:0000414) | 1.77458317 |
| 94 | Rhabdomyolysis (HP:0003201) | 1.76299481 |
| 95 | Atonic seizures (HP:0010819) | 1.76108943 |
| 96 | Double outlet right ventricle (HP:0001719) | 1.75003854 |
| 97 | Congenital malformation of the right heart (HP:0011723) | 1.75003854 |
| 98 | Hyperthyroidism (HP:0000836) | 1.74501744 |
| 99 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.73091230 |
| 100 | Colitis (HP:0002583) | 1.72762517 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PINK1 | 6.03871859 |
| 2 | PLK4 | 5.80679559 |
| 3 | TESK1 | 4.33890642 |
| 4 | MAP4K2 | 4.06449501 |
| 5 | DDR2 | 3.21491411 |
| 6 | STK38 | 3.16706665 |
| 7 | INSRR | 3.02693195 |
| 8 | MAPK15 | 2.95598614 |
| 9 | TLK1 | 2.76579589 |
| 10 | ZAK | 2.51983828 |
| 11 | MARK3 | 2.42474511 |
| 12 | STK38L | 2.25692493 |
| 13 | PLK2 | 2.19398292 |
| 14 | FRK | 1.85564388 |
| 15 | PNCK | 1.85531002 |
| 16 | BRD4 | 1.76575559 |
| 17 | CAMK1G | 1.48693147 |
| 18 | PRKD3 | 1.45309745 |
| 19 | PTK2B | 1.43574347 |
| 20 | RPS6KA5 | 1.42512650 |
| 21 | PIK3CG | 1.40093431 |
| 22 | PDK1 | 1.39604688 |
| 23 | NEK2 | 1.37897045 |
| 24 | PDPK1 | 1.30204515 |
| 25 | CDK3 | 1.17773428 |
| 26 | MST1R | 1.17479245 |
| 27 | TIE1 | 1.09041640 |
| 28 | BMPR1B | 1.05646732 |
| 29 | TAOK3 | 1.04880325 |
| 30 | ADRBK2 | 1.01599854 |
| 31 | LATS1 | 1.00451420 |
| 32 | WNK4 | 0.94421716 |
| 33 | CDK7 | 0.89348765 |
| 34 | MYLK | 0.86105429 |
| 35 | MAP2K7 | 0.81509280 |
| 36 | BCKDK | 0.79718033 |
| 37 | RIPK4 | 0.78973838 |
| 38 | PRKCQ | 0.77974643 |
| 39 | OXSR1 | 0.75791780 |
| 40 | NEK6 | 0.73183395 |
| 41 | CAMK1 | 0.72259397 |
| 42 | STK39 | 0.69979521 |
| 43 | ARAF | 0.69861110 |
| 44 | SIK2 | 0.67492088 |
| 45 | CDK12 | 0.66956859 |
| 46 | OBSCN | 0.66582958 |
| 47 | CAMK1D | 0.64588911 |
| 48 | DYRK1B | 0.62693642 |
| 49 | PRKG1 | 0.61654315 |
| 50 | MAP4K1 | 0.61646617 |
| 51 | VRK1 | 0.60663034 |
| 52 | SGK223 | 0.60500219 |
| 53 | SGK494 | 0.60500219 |
| 54 | PRKG2 | 0.60199229 |
| 55 | KIT | 0.60100609 |
| 56 | WNK1 | 0.60092033 |
| 57 | GRK1 | 0.56713178 |
| 58 | RPS6KA1 | 0.54529596 |
| 59 | MAP3K1 | 0.49067468 |
| 60 | CSNK1G3 | 0.48504708 |
| 61 | TESK2 | 0.48025809 |
| 62 | ROCK1 | 0.46850417 |
| 63 | FES | 0.43400969 |
| 64 | MUSK | 0.43082100 |
| 65 | GRK6 | 0.42237935 |
| 66 | WNK3 | 0.40962321 |
| 67 | CSNK1A1L | 0.39203599 |
| 68 | MAP3K11 | 0.38730750 |
| 69 | MAPK13 | 0.37374177 |
| 70 | SYK | 0.35685184 |
| 71 | CDK19 | 0.32876866 |
| 72 | MAPK1 | 0.32764247 |
| 73 | GSK3B | 0.32478422 |
| 74 | MAPK11 | 0.32444107 |
| 75 | KDR | 0.31870831 |
| 76 | TNK2 | 0.29139556 |
| 77 | MAP2K6 | 0.28448393 |
| 78 | CDK2 | 0.28269958 |
| 79 | RPS6KA2 | 0.27517750 |
| 80 | DYRK3 | 0.27430641 |
| 81 | CAMK4 | 0.27136897 |
| 82 | PRKAA2 | 0.23966410 |
| 83 | CDK14 | 0.23889217 |
| 84 | PKN1 | 0.23371402 |
| 85 | IKBKB | 0.22996252 |
| 86 | TEC | 0.22947999 |
| 87 | CSNK1G2 | 0.22507269 |
| 88 | CSNK1G1 | 0.22467210 |
| 89 | RPS6KA6 | 0.21811264 |
| 90 | CDK1 | 0.21763984 |
| 91 | MAPK8 | 0.21174159 |
| 92 | KSR2 | 0.21150917 |
| 93 | MAP3K13 | 0.21144897 |
| 94 | CDK4 | 0.20989169 |
| 95 | BRAF | 0.19898415 |
| 96 | MINK1 | 0.18862243 |
| 97 | CSNK1A1 | 0.18195666 |
| 98 | JAK3 | 0.18127037 |
| 99 | TXK | 0.17095891 |
| 100 | PRKCB | 0.16913897 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.86197164 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.80321870 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.88363580 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 3.10046789 |
| 5 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 2.36036718 |
| 6 | Phototransduction_Homo sapiens_hsa04744 | 2.35959103 |
| 7 | Allograft rejection_Homo sapiens_hsa05330 | 2.19318764 |
| 8 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.19115458 |
| 9 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.18181556 |
| 10 | Graft-versus-host disease_Homo sapiens_hsa05332 | 2.09111535 |
| 11 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 2.06890107 |
| 12 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.77685237 |
| 13 | Taste transduction_Homo sapiens_hsa04742 | 1.73026609 |
| 14 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.64912026 |
| 15 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 1.58637529 |
| 16 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 1.57213044 |
| 17 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.54125296 |
| 18 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.51080342 |
| 19 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.39996420 |
| 20 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.34954144 |
| 21 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.33220150 |
| 22 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.32027112 |
| 23 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.30289866 |
| 24 | Salivary secretion_Homo sapiens_hsa04970 | 1.26545160 |
| 25 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.21542305 |
| 26 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.15299167 |
| 27 | RNA transport_Homo sapiens_hsa03013 | 1.10735109 |
| 28 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.10466674 |
| 29 | Gap junction_Homo sapiens_hsa04540 | 1.09997323 |
| 30 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.08224955 |
| 31 | Purine metabolism_Homo sapiens_hsa00230 | 1.05519216 |
| 32 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.03542061 |
| 33 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.02779167 |
| 34 | Alcoholism_Homo sapiens_hsa05034 | 1.02631093 |
| 35 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.99901596 |
| 36 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.99759085 |
| 37 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.99221966 |
| 38 | Renin secretion_Homo sapiens_hsa04924 | 0.98871554 |
| 39 | Circadian entrainment_Homo sapiens_hsa04713 | 0.98103833 |
| 40 | Asthma_Homo sapiens_hsa05310 | 0.97611070 |
| 41 | Viral myocarditis_Homo sapiens_hsa05416 | 0.96224056 |
| 42 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.96130404 |
| 43 | Basal transcription factors_Homo sapiens_hsa03022 | 0.95570942 |
| 44 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.94297273 |
| 45 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.91108758 |
| 46 | ABC transporters_Homo sapiens_hsa02010 | 0.85137342 |
| 47 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.82515077 |
| 48 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.81372214 |
| 49 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.80073212 |
| 50 | Phagosome_Homo sapiens_hsa04145 | 0.79550778 |
| 51 | Peroxisome_Homo sapiens_hsa04146 | 0.77978050 |
| 52 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.76669581 |
| 53 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.75973137 |
| 54 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.72655774 |
| 55 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.69284713 |
| 56 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.67492872 |
| 57 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.66401938 |
| 58 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.66150889 |
| 59 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.63043511 |
| 60 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.62568973 |
| 61 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.61884408 |
| 62 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.60748877 |
| 63 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.59924124 |
| 64 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.59378918 |
| 65 | Morphine addiction_Homo sapiens_hsa05032 | 0.58982235 |
| 66 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.58398402 |
| 67 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.58115640 |
| 68 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.56390355 |
| 69 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.55745935 |
| 70 | Retinol metabolism_Homo sapiens_hsa00830 | 0.53478136 |
| 71 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.52951125 |
| 72 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.52261557 |
| 73 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.52092396 |
| 74 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.50992689 |
| 75 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.50309787 |
| 76 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.49564934 |
| 77 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.47750995 |
| 78 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.47607590 |
| 79 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.46848671 |
| 80 | Influenza A_Homo sapiens_hsa05164 | 0.43862717 |
| 81 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.43410092 |
| 82 | Metabolic pathways_Homo sapiens_hsa01100 | 0.43368688 |
| 83 | Huntingtons disease_Homo sapiens_hsa05016 | 0.41632704 |
| 84 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.39356781 |
| 85 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.39194628 |
| 86 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.39170576 |
| 87 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.36828599 |
| 88 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.36681431 |
| 89 | Nicotine addiction_Homo sapiens_hsa05033 | 0.36601897 |
| 90 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.35637231 |
| 91 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.34183891 |
| 92 | Apoptosis_Homo sapiens_hsa04210 | 0.33801035 |
| 93 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.33469584 |
| 94 | Base excision repair_Homo sapiens_hsa03410 | 0.32588049 |
| 95 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.31691436 |
| 96 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.31420056 |
| 97 | Endocytosis_Homo sapiens_hsa04144 | 0.29218620 |
| 98 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.29210547 |
| 99 | Insulin secretion_Homo sapiens_hsa04911 | 0.29174177 |
| 100 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.27581844 |

