

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.73735092 |
| 2 | response to pheromone (GO:0019236) | 9.29048706 |
| 3 | sperm capacitation (GO:0048240) | 8.15685153 |
| 4 | plasma membrane fusion (GO:0045026) | 7.47791570 |
| 5 | spermatid development (GO:0007286) | 6.57904556 |
| 6 | single strand break repair (GO:0000012) | 6.56717784 |
| 7 | multicellular organism reproduction (GO:0032504) | 6.47539124 |
| 8 | calcium ion-dependent exocytosis (GO:0017156) | 6.35970431 |
| 9 | protein targeting to Golgi (GO:0000042) | 6.11849517 |
| 10 | DNA packaging (GO:0006323) | 6.07327828 |
| 11 | establishment of protein localization to Golgi (GO:0072600) | 6.06026509 |
| 12 | sperm-egg recognition (GO:0035036) | 6.05613355 |
| 13 | chromosome condensation (GO:0030261) | 6.03172703 |
| 14 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.97533906 |
| 15 | microtubule depolymerization (GO:0007019) | 5.94667864 |
| 16 | reproduction (GO:0000003) | 5.79312974 |
| 17 | protein polyglutamylation (GO:0018095) | 5.73967615 |
| 18 | spermatid nucleus differentiation (GO:0007289) | 5.73111447 |
| 19 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.65440474 |
| 20 | positive regulation of Rab GTPase activity (GO:0032851) | 5.60969795 |
| 21 | regulation of Rab GTPase activity (GO:0032313) | 5.60969795 |
| 22 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.55494119 |
| 23 | microtubule polymerization or depolymerization (GO:0031109) | 5.52200839 |
| 24 | rRNA methylation (GO:0031167) | 5.45145935 |
| 25 | negative regulation of inclusion body assembly (GO:0090084) | 5.34242564 |
| 26 | centriole replication (GO:0007099) | 5.28542696 |
| 27 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 5.21275478 |
| 28 | cell-cell recognition (GO:0009988) | 5.12895631 |
| 29 | axonemal dynein complex assembly (GO:0070286) | 5.05842307 |
| 30 | spermatogenesis (GO:0007283) | 4.96886214 |
| 31 | male gamete generation (GO:0048232) | 4.95128643 |
| 32 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.94191239 |
| 33 | cellular ketone body metabolic process (GO:0046950) | 4.94030740 |
| 34 | binding of sperm to zona pellucida (GO:0007339) | 4.87150466 |
| 35 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.85433470 |
| 36 | regulation of cilium movement (GO:0003352) | 4.85162829 |
| 37 | sexual reproduction (GO:0019953) | 4.76179693 |
| 38 | microtubule severing (GO:0051013) | 4.57662168 |
| 39 | gamete generation (GO:0007276) | 4.51821746 |
| 40 | centriole assembly (GO:0098534) | 4.47085067 |
| 41 | RNA destabilization (GO:0050779) | 4.47005466 |
| 42 | rRNA modification (GO:0000154) | 4.46194130 |
| 43 | protein localization to Golgi apparatus (GO:0034067) | 4.44820086 |
| 44 | ketone body metabolic process (GO:1902224) | 4.35594983 |
| 45 | cell wall macromolecule metabolic process (GO:0044036) | 4.17859494 |
| 46 | single fertilization (GO:0007338) | 4.08112488 |
| 47 | Golgi to endosome transport (GO:0006895) | 4.03922589 |
| 48 | motile cilium assembly (GO:0044458) | 3.90381343 |
| 49 | organic cation transport (GO:0015695) | 3.89267056 |
| 50 | cell wall macromolecule catabolic process (GO:0016998) | 3.88443329 |
| 51 | epithelial cilium movement (GO:0003351) | 3.85200312 |
| 52 | germ cell development (GO:0007281) | 3.71045701 |
| 53 | regulation of inclusion body assembly (GO:0090083) | 3.70592728 |
| 54 | coenzyme catabolic process (GO:0009109) | 3.69563979 |
| 55 | chromatin silencing (GO:0006342) | 3.68851043 |
| 56 | multicellular organismal movement (GO:0050879) | 3.60147484 |
| 57 | musculoskeletal movement (GO:0050881) | 3.60147484 |
| 58 | regulation of centriole replication (GO:0046599) | 3.59695902 |
| 59 | multicellular organismal reproductive process (GO:0048609) | 3.59038438 |
| 60 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.58801787 |
| 61 | regulation of microtubule-based movement (GO:0060632) | 3.52157987 |
| 62 | cilium movement (GO:0003341) | 3.46631308 |
| 63 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.46140127 |
| 64 | cerebral cortex neuron differentiation (GO:0021895) | 3.43371823 |
| 65 | fertilization (GO:0009566) | 3.42549367 |
| 66 | seminiferous tubule development (GO:0072520) | 3.40850010 |
| 67 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.27937598 |
| 68 | response to acidic pH (GO:0010447) | 3.24053548 |
| 69 | mast cell degranulation (GO:0043303) | 3.16010006 |
| 70 | mast cell activation involved in immune response (GO:0002279) | 3.16010006 |
| 71 | regulation of interleukin-13 production (GO:0032656) | 3.08771406 |
| 72 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.06372542 |
| 73 | nucleus organization (GO:0006997) | 3.02498464 |
| 74 | microtubule nucleation (GO:0007020) | 2.98447518 |
| 75 | NAD biosynthetic process (GO:0009435) | 2.88906802 |
| 76 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.87681399 |
| 77 | membrane depolarization during action potential (GO:0086010) | 2.86080055 |
| 78 | regulation of T-helper 2 cell differentiation (GO:0045628) | 2.84106225 |
| 79 | cellular response to pH (GO:0071467) | 2.80061562 |
| 80 | DNA methylation involved in gamete generation (GO:0043046) | 2.78300982 |
| 81 | positive regulation of excitatory postsynaptic membrane potential (GO:2000463) | 2.77126583 |
| 82 | axoneme assembly (GO:0035082) | 2.74567856 |
| 83 | vesicle transport along microtubule (GO:0047496) | 2.73531569 |
| 84 | histone H3-K9 demethylation (GO:0033169) | 2.73490918 |
| 85 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.69848798 |
| 86 | primary amino compound metabolic process (GO:1901160) | 2.68075827 |
| 87 | regulation of ARF GTPase activity (GO:0032312) | 2.64986104 |
| 88 | regulation of interleukin-5 production (GO:0032674) | 2.64923395 |
| 89 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.62975996 |
| 90 | regulation of guanylate cyclase activity (GO:0031282) | 2.62393487 |
| 91 | neuronal ion channel clustering (GO:0045161) | 2.62137724 |
| 92 | spinal cord motor neuron differentiation (GO:0021522) | 2.59913655 |
| 93 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.59460987 |
| 94 | alanine transport (GO:0032328) | 2.59307627 |
| 95 | male meiosis (GO:0007140) | 2.56811559 |
| 96 | positive regulation of action potential (GO:0045760) | 2.56573438 |
| 97 | cell recognition (GO:0008037) | 2.56049869 |
| 98 | histone mRNA catabolic process (GO:0071044) | 2.53606310 |
| 99 | acrosome reaction (GO:0007340) | 10.1926795 |
| 100 | sperm motility (GO:0030317) | 10.1515193 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.74800088 |
| 2 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.54875528 |
| 3 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.39111712 |
| 4 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.31570816 |
| 5 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.27229003 |
| 6 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.13443793 |
| 7 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.06619432 |
| 8 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.06619432 |
| 9 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.06270981 |
| 10 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.94950395 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.94950395 |
| 12 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.85927455 |
| 13 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.77376050 |
| 14 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.73681421 |
| 15 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.67395052 |
| 16 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.66421597 |
| 17 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.66410304 |
| 18 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.66245102 |
| 19 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.66187085 |
| 20 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.64123679 |
| 21 | ERA_21632823_ChIP-Seq_H3396_Human | 1.63711507 |
| 22 | FUS_26573619_Chip-Seq_HEK293_Human | 1.63109733 |
| 23 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.60085413 |
| 24 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.57619142 |
| 25 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.55788669 |
| 26 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.53801026 |
| 27 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.53739155 |
| 28 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.52065706 |
| 29 | AR_25329375_ChIP-Seq_VCAP_Human | 1.50656434 |
| 30 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.50550337 |
| 31 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.50030274 |
| 32 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.48290678 |
| 33 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.45297255 |
| 34 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.44846405 |
| 35 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.44576895 |
| 36 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.44357095 |
| 37 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.44290495 |
| 38 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.38552408 |
| 39 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.38416769 |
| 40 | P300_19829295_ChIP-Seq_ESCs_Human | 1.38074401 |
| 41 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.37279368 |
| 42 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.36793926 |
| 43 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.36112285 |
| 44 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.35530080 |
| 45 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.33034056 |
| 46 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.29828207 |
| 47 | STAT3_23295773_ChIP-Seq_U87_Human | 1.29758761 |
| 48 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.28664664 |
| 49 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.27602422 |
| 50 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.27439122 |
| 51 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.26173383 |
| 52 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.25852738 |
| 53 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.25640707 |
| 54 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.24486288 |
| 55 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.23998491 |
| 56 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.23660497 |
| 57 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.23651844 |
| 58 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.22673466 |
| 59 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.20512882 |
| 60 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.19689900 |
| 61 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.19651789 |
| 62 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.19164980 |
| 63 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.18784426 |
| 64 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.18491441 |
| 65 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.17571141 |
| 66 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.17073252 |
| 67 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.17073252 |
| 68 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.14498309 |
| 69 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.13879251 |
| 70 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.12430852 |
| 71 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.12328233 |
| 72 | P300_27268052_Chip-Seq_Bcells_Human | 1.11687196 |
| 73 | TCF4_23295773_ChIP-Seq_U87_Human | 1.11472982 |
| 74 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.09929512 |
| 75 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.09852055 |
| 76 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.09427544 |
| 77 | VDR_22108803_ChIP-Seq_LS180_Human | 1.08777192 |
| 78 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.08748757 |
| 79 | TBL1_22424771_ChIP-Seq_293T_Human | 1.07342259 |
| 80 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.06906556 |
| 81 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.06623945 |
| 82 | NFYB_21822215_ChIP-Seq_K562_Human | 1.06496357 |
| 83 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.06243064 |
| 84 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 1.05691403 |
| 85 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.05376972 |
| 86 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.03962604 |
| 87 | P68_20966046_ChIP-Seq_HELA_Human | 1.03231270 |
| 88 | IKZF1_21737484_ChIP-ChIP_HCT116_Human | 1.02096291 |
| 89 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.01700263 |
| 90 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.01650829 |
| 91 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.00696355 |
| 92 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.00655470 |
| 93 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 0.99419972 |
| 94 | GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.98861997 |
| 95 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 0.98756762 |
| 96 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 0.98383396 |
| 97 | HOXB7_26014856_ChIP-Seq_BT474_Human | 0.98072225 |
| 98 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 0.98042325 |
| 99 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 0.97252676 |
| 100 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 0.96896409 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 9.48551598 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 4.29932036 |
| 3 | MP0003878_abnormal_ear_physiology | 4.29932036 |
| 4 | MP0003698_abnormal_male_reproductive | 3.57819160 |
| 5 | MP0005670_abnormal_white_adipose | 3.34891670 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.14090094 |
| 7 | MP0001929_abnormal_gametogenesis | 2.98685651 |
| 8 | MP0004859_abnormal_synaptic_plasticity | 2.72409005 |
| 9 | MP0001968_abnormal_touch/_nociception | 2.43395360 |
| 10 | MP0001486_abnormal_startle_reflex | 2.20703428 |
| 11 | MP0003880_abnormal_central_pattern | 2.12029568 |
| 12 | MP0002822_catalepsy | 2.00760872 |
| 13 | MP0005423_abnormal_somatic_nervous | 1.97943845 |
| 14 | MP0009745_abnormal_behavioral_response | 1.93482600 |
| 15 | MP0002735_abnormal_chemical_nociception | 1.90221411 |
| 16 | MP0002161_abnormal_fertility/fecundity | 1.87832538 |
| 17 | MP0005379_endocrine/exocrine_gland_phen | 1.76751310 |
| 18 | MP0001501_abnormal_sleep_pattern | 1.74648494 |
| 19 | MP0002132_abnormal_respiratory_system | 1.71998394 |
| 20 | MP0003635_abnormal_synaptic_transmissio | 1.71241191 |
| 21 | MP0008877_abnormal_DNA_methylation | 1.71196818 |
| 22 | MP0001485_abnormal_pinna_reflex | 1.66142699 |
| 23 | MP0003646_muscle_fatigue | 1.65759912 |
| 24 | MP0002272_abnormal_nervous_system | 1.64889112 |
| 25 | MP0009046_muscle_twitch | 1.57900350 |
| 26 | MP0000678_abnormal_parathyroid_gland | 1.57187394 |
| 27 | MP0003879_abnormal_hair_cell | 1.56092422 |
| 28 | MP0002572_abnormal_emotion/affect_behav | 1.53375610 |
| 29 | MP0002064_seizures | 1.51913009 |
| 30 | MP0008569_lethality_at_weaning | 1.49794665 |
| 31 | MP0004742_abnormal_vestibular_system | 1.43018640 |
| 32 | MP0005310_abnormal_salivary_gland | 1.42345389 |
| 33 | MP0002733_abnormal_thermal_nociception | 1.42111669 |
| 34 | MP0005551_abnormal_eye_electrophysiolog | 1.35722399 |
| 35 | MP0003718_maternal_effect | 1.34314796 |
| 36 | MP0002067_abnormal_sensory_capabilities | 1.33967258 |
| 37 | MP0002210_abnormal_sex_determination | 1.30412346 |
| 38 | MP0001765_abnormal_ion_homeostasis | 1.30196613 |
| 39 | MP0003011_delayed_dark_adaptation | 1.28201420 |
| 40 | MP0001905_abnormal_dopamine_level | 1.27740795 |
| 41 | MP0002734_abnormal_mechanical_nocicepti | 1.27309420 |
| 42 | MP0002234_abnormal_pharynx_morphology | 1.27132792 |
| 43 | MP0001970_abnormal_pain_threshold | 1.26273187 |
| 44 | MP0002138_abnormal_hepatobiliary_system | 1.25062653 |
| 45 | MP0002063_abnormal_learning/memory/cond | 1.24365745 |
| 46 | MP0004270_analgesia | 1.22601456 |
| 47 | MP0002229_neurodegeneration | 1.18409459 |
| 48 | MP0001963_abnormal_hearing_physiology | 1.16981364 |
| 49 | MP0002557_abnormal_social/conspecific_i | 1.15890709 |
| 50 | MP0003787_abnormal_imprinting | 1.10763267 |
| 51 | MP0000653_abnormal_sex_gland | 1.06216031 |
| 52 | MP0001145_abnormal_male_reproductive | 1.05927377 |
| 53 | MP0001440_abnormal_grooming_behavior | 1.05590280 |
| 54 | MP0002736_abnormal_nociception_after | 1.00354283 |
| 55 | MP0005535_abnormal_body_temperature | 0.99879630 |
| 56 | MP0004510_myositis | 0.96396438 |
| 57 | MP0004484_altered_response_of | 0.91177061 |
| 58 | MP0005253_abnormal_eye_physiology | 0.87465638 |
| 59 | MP0000955_abnormal_spinal_cord | 0.87227864 |
| 60 | MP0004085_abnormal_heartbeat | 0.87025808 |
| 61 | MP0005167_abnormal_blood-brain_barrier | 0.86361943 |
| 62 | MP0010386_abnormal_urinary_bladder | 0.84695766 |
| 63 | MP0003633_abnormal_nervous_system | 0.82963074 |
| 64 | MP0001984_abnormal_olfaction | 0.81935407 |
| 65 | MP0006276_abnormal_autonomic_nervous | 0.81134941 |
| 66 | MP0000026_abnormal_inner_ear | 0.78457153 |
| 67 | MP0005645_abnormal_hypothalamus_physiol | 0.76221995 |
| 68 | MP0002249_abnormal_larynx_morphology | 0.74247774 |
| 69 | MP0009115_abnormal_fat_cell | 0.74168290 |
| 70 | MP0002928_abnormal_bile_duct | 0.72317082 |
| 71 | MP0003631_nervous_system_phenotype | 0.72007276 |
| 72 | MP0002127_abnormal_cardiovascular_syste | 0.71307149 |
| 73 | MP0008872_abnormal_physiological_respon | 0.70988543 |
| 74 | MP0002282_abnormal_trachea_morphology | 0.70960989 |
| 75 | MP0005395_other_phenotype | 0.65291903 |
| 76 | MP0000681_abnormal_thyroid_gland | 0.62802861 |
| 77 | MP0005636_abnormal_mineral_homeostasis | 0.61964350 |
| 78 | MP0005646_abnormal_pituitary_gland | 0.61934006 |
| 79 | MP0004885_abnormal_endolymph | 0.61675631 |
| 80 | MP0008995_early_reproductive_senescence | 0.61061349 |
| 81 | MP0002693_abnormal_pancreas_physiology | 0.60878021 |
| 82 | MP0003172_abnormal_lysosome_physiology | 0.59948754 |
| 83 | MP0000569_abnormal_digit_pigmentation | 0.59108599 |
| 84 | MP0003137_abnormal_impulse_conducting | 0.58077007 |
| 85 | MP0002882_abnormal_neuron_morphology | 0.57566508 |
| 86 | MP0009764_decreased_sensitivity_to | 0.56087674 |
| 87 | MP0001986_abnormal_taste_sensitivity | 0.55432069 |
| 88 | MP0004811_abnormal_neuron_physiology | 0.52686744 |
| 89 | MP0004142_abnormal_muscle_tone | 0.52487698 |
| 90 | MP0005451_abnormal_body_composition | 0.52231480 |
| 91 | MP0008874_decreased_physiological_sensi | 0.52144130 |
| 92 | MP0004924_abnormal_behavior | 0.52038469 |
| 93 | MP0005386_behavior/neurological_phenoty | 0.52038469 |
| 94 | MP0001800_abnormal_humoral_immune | 0.50620097 |
| 95 | MP0008961_abnormal_basal_metabolism | 0.50069826 |
| 96 | MP0010329_abnormal_lipoprotein_level | 0.48070271 |
| 97 | MP0005671_abnormal_response_to | 0.47123409 |
| 98 | MP0002066_abnormal_motor_capabilities/c | 0.46567131 |
| 99 | MP0000230_abnormal_systemic_arterial | 0.46494850 |
| 100 | MP0001873_stomach_inflammation | 0.46255068 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.34156655 |
| 2 | Attenuation of retinal blood vessels (HP:0007843) | 5.26818480 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 5.14764094 |
| 4 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.14764094 |
| 5 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.75603749 |
| 6 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.48747864 |
| 7 | Asymmetric septal hypertrophy (HP:0001670) | 4.28502439 |
| 8 | Abnormal ciliary motility (HP:0012262) | 4.07244078 |
| 9 | Hyperkalemia (HP:0002153) | 4.01347132 |
| 10 | Bell-shaped thorax (HP:0001591) | 4.00217111 |
| 11 | Chronic hepatic failure (HP:0100626) | 3.97169542 |
| 12 | Resting tremor (HP:0002322) | 3.91658526 |
| 13 | Abnormality of macular pigmentation (HP:0008002) | 3.90340403 |
| 14 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.87186140 |
| 15 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.87186140 |
| 16 | Facial shape deformation (HP:0011334) | 3.83465320 |
| 17 | Potter facies (HP:0002009) | 3.83465320 |
| 18 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.82513166 |
| 19 | Progressive cerebellar ataxia (HP:0002073) | 3.81108986 |
| 20 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.77330723 |
| 21 | Hypoplastic ischia (HP:0003175) | 3.67133293 |
| 22 | Postural instability (HP:0002172) | 3.57293592 |
| 23 | Tubulointerstitial nephritis (HP:0001970) | 3.48766513 |
| 24 | Enlarged epiphyses (HP:0010580) | 3.48198234 |
| 25 | Male infertility (HP:0003251) | 3.45294641 |
| 26 | Infertility (HP:0000789) | 3.38303445 |
| 27 | Nephronophthisis (HP:0000090) | 3.31614076 |
| 28 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.17178246 |
| 29 | Abnormality of the ischium (HP:0003174) | 3.15834405 |
| 30 | Abnormal drinking behavior (HP:0030082) | 3.13374981 |
| 31 | Polydipsia (HP:0001959) | 3.13374981 |
| 32 | Nasal polyposis (HP:0100582) | 3.10668692 |
| 33 | Abnormal urine output (HP:0012590) | 3.07841960 |
| 34 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.98136895 |
| 35 | Atonic seizures (HP:0010819) | 2.92579475 |
| 36 | Abnormality of the renal medulla (HP:0100957) | 2.89480455 |
| 37 | Impulsivity (HP:0100710) | 2.88365908 |
| 38 | Hypoplasia of the thymus (HP:0000778) | 2.86266469 |
| 39 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.84252042 |
| 40 | Abnormal spermatogenesis (HP:0008669) | 2.77910490 |
| 41 | Cone-rod dystrophy (HP:0000548) | 2.75925194 |
| 42 | Polyuria (HP:0000103) | 2.73546878 |
| 43 | Myokymia (HP:0002411) | 2.73425269 |
| 44 | Febrile seizures (HP:0002373) | 2.67566936 |
| 45 | Abnormality of renal excretion (HP:0011036) | 2.65717086 |
| 46 | Azoospermia (HP:0000027) | 2.57579895 |
| 47 | Rhinitis (HP:0012384) | 2.50983080 |
| 48 | Decreased central vision (HP:0007663) | 2.49580844 |
| 49 | Abnormality of potassium homeostasis (HP:0011042) | 2.48466934 |
| 50 | Double outlet right ventricle (HP:0001719) | 2.38616177 |
| 51 | Congenital malformation of the right heart (HP:0011723) | 2.38616177 |
| 52 | Focal motor seizures (HP:0011153) | 2.37018940 |
| 53 | Amelogenesis imperfecta (HP:0000705) | 2.35923199 |
| 54 | Abnormality of dental color (HP:0011073) | 2.33964679 |
| 55 | Abnormality of the nasal mucosa (HP:0000433) | 2.31462919 |
| 56 | Pancreatic fibrosis (HP:0100732) | 2.21181689 |
| 57 | Papilledema (HP:0001085) | 2.21059227 |
| 58 | Bronchiectasis (HP:0002110) | 2.18507151 |
| 59 | Truncal obesity (HP:0001956) | 2.14809812 |
| 60 | Epiphyseal dysplasia (HP:0002656) | 2.13292202 |
| 61 | Tubulointerstitial abnormality (HP:0001969) | 2.12414911 |
| 62 | Abnormality of the aortic arch (HP:0012303) | 2.11017826 |
| 63 | Stage 5 chronic kidney disease (HP:0003774) | 2.10533373 |
| 64 | Generalized aminoaciduria (HP:0002909) | 2.08140215 |
| 65 | Pancreatic cysts (HP:0001737) | 2.04377541 |
| 66 | Genetic anticipation (HP:0003743) | 2.01565173 |
| 67 | Portal hypertension (HP:0001409) | 1.98519080 |
| 68 | Gaze-evoked nystagmus (HP:0000640) | 1.97750178 |
| 69 | Unilateral renal agenesis (HP:0000122) | 1.97166440 |
| 70 | Hypochromic microcytic anemia (HP:0004840) | 1.95934176 |
| 71 | Tubular atrophy (HP:0000092) | 1.94866120 |
| 72 | Congenital sensorineural hearing impairment (HP:0008527) | 1.92217287 |
| 73 | Tetany (HP:0001281) | 1.91850725 |
| 74 | Renal dysplasia (HP:0000110) | 1.91320463 |
| 75 | Epileptic encephalopathy (HP:0200134) | 1.90147174 |
| 76 | Photophobia (HP:0000613) | 1.89484518 |
| 77 | Focal seizures (HP:0007359) | 1.85741934 |
| 78 | Insulin-resistant diabetes mellitus (HP:0000831) | 1.84523258 |
| 79 | Amblyopia (HP:0000646) | 1.83525008 |
| 80 | Widely patent fontanelles and sutures (HP:0004492) | 1.83247053 |
| 81 | Abnormality of the renal cortex (HP:0011035) | 1.82600403 |
| 82 | Occipital encephalocele (HP:0002085) | 1.81660345 |
| 83 | Abnormality of the costochondral junction (HP:0000919) | 1.81318237 |
| 84 | Bulbous nose (HP:0000414) | 1.77962624 |
| 85 | Abnormality of the hepatic vasculature (HP:0006707) | 1.77621387 |
| 86 | Type II lissencephaly (HP:0007260) | 1.76152383 |
| 87 | Optic nerve hypoplasia (HP:0000609) | 1.75314004 |
| 88 | Absence seizures (HP:0002121) | 1.74607527 |
| 89 | Abnormality of the pubic bones (HP:0003172) | 1.74144155 |
| 90 | Dialeptic seizures (HP:0011146) | 1.73512864 |
| 91 | Hypophosphatemic rickets (HP:0004912) | 1.72293679 |
| 92 | Hyponatremia (HP:0002902) | 1.72286343 |
| 93 | Abnormality of chloride homeostasis (HP:0011422) | 1.72139016 |
| 94 | Horizontal nystagmus (HP:0000666) | 1.69707580 |
| 95 | Recurrent pneumonia (HP:0006532) | 1.68384964 |
| 96 | Hyperthyroidism (HP:0000836) | 1.63899110 |
| 97 | Macular degeneration (HP:0000608) | 1.63733754 |
| 98 | Mixed hearing impairment (HP:0000410) | 1.63396686 |
| 99 | Hypokalemia (HP:0002900) | 1.63228862 |
| 100 | Cystic liver disease (HP:0006706) | 1.62979320 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 6.70308496 |
| 2 | TESK1 | 4.48348007 |
| 3 | DDR2 | 4.10985961 |
| 4 | PLK2 | 3.39146721 |
| 5 | STK38 | 3.32703674 |
| 6 | MAP4K2 | 3.32578650 |
| 7 | INSRR | 3.04679470 |
| 8 | FRK | 2.60115560 |
| 9 | MAPK15 | 1.93587824 |
| 10 | PRKD3 | 1.85637407 |
| 11 | STK38L | 1.78521686 |
| 12 | PDK1 | 1.72604148 |
| 13 | PNCK | 1.72509913 |
| 14 | CAMK1G | 1.70968122 |
| 15 | BRD4 | 1.63163138 |
| 16 | RIPK4 | 1.57854968 |
| 17 | WNK1 | 1.54519893 |
| 18 | NTRK3 | 1.53081952 |
| 19 | PTK2B | 1.51868946 |
| 20 | PIK3CG | 1.44384015 |
| 21 | PDPK1 | 1.44208633 |
| 22 | PINK1 | 1.28722675 |
| 23 | DAPK2 | 1.27066099 |
| 24 | UHMK1 | 1.24564354 |
| 25 | SIK2 | 1.22670150 |
| 26 | TXK | 1.15513417 |
| 27 | NEK6 | 1.14364050 |
| 28 | MAP3K9 | 1.07044156 |
| 29 | ADRBK2 | 1.01341168 |
| 30 | CAMK1 | 0.97852073 |
| 31 | TAOK3 | 0.92923831 |
| 32 | TNK2 | 0.92380329 |
| 33 | KSR2 | 0.90651186 |
| 34 | EPHA4 | 0.90599050 |
| 35 | DYRK1B | 0.85970223 |
| 36 | OXSR1 | 0.83681921 |
| 37 | MAP4K1 | 0.83079334 |
| 38 | BMPR1B | 0.80749336 |
| 39 | CASK | 0.80464765 |
| 40 | AKT3 | 0.79589673 |
| 41 | PRKG1 | 0.79421587 |
| 42 | FGFR2 | 0.78535217 |
| 43 | CAMKK2 | 0.75956021 |
| 44 | SGK494 | 0.73166581 |
| 45 | SGK223 | 0.73166581 |
| 46 | PRKG2 | 0.72739714 |
| 47 | PRKCG | 0.71964919 |
| 48 | MAP3K2 | 0.71277084 |
| 49 | JAK3 | 0.70649830 |
| 50 | MAP3K4 | 0.68033108 |
| 51 | PRKCQ | 0.67106644 |
| 52 | MAP3K13 | 0.63708333 |
| 53 | CDK19 | 0.61470724 |
| 54 | ITK | 0.60381107 |
| 55 | CAMK1D | 0.60120888 |
| 56 | MAPK13 | 0.58923516 |
| 57 | NUAK1 | 0.58624413 |
| 58 | PRKAA2 | 0.58599778 |
| 59 | MAP3K11 | 0.58522429 |
| 60 | SGK1 | 0.58050310 |
| 61 | CAMK4 | 0.57744353 |
| 62 | FES | 0.57502582 |
| 63 | MARK1 | 0.57440036 |
| 64 | CAMKK1 | 0.56616086 |
| 65 | SGK2 | 0.55899379 |
| 66 | TYRO3 | 0.55802054 |
| 67 | CDK7 | 0.55498075 |
| 68 | PRKCH | 0.54276149 |
| 69 | NTRK2 | 0.52932124 |
| 70 | SYK | 0.52171397 |
| 71 | WNK4 | 0.51118198 |
| 72 | PRKCE | 0.50214166 |
| 73 | NLK | 0.47770784 |
| 74 | STK39 | 0.47716401 |
| 75 | RPS6KA2 | 0.47537614 |
| 76 | MAP2K6 | 0.46995960 |
| 77 | PRKCZ | 0.45706781 |
| 78 | MST1R | 0.45587572 |
| 79 | MAP2K2 | 0.44661285 |
| 80 | RPS6KA1 | 0.44473556 |
| 81 | IKBKB | 0.43206402 |
| 82 | PRKCB | 0.42149349 |
| 83 | CAMK2A | 0.40046956 |
| 84 | STK11 | 0.40032488 |
| 85 | MARK2 | 0.39519668 |
| 86 | GRK6 | 0.38334348 |
| 87 | ROCK1 | 0.37935088 |
| 88 | JAK2 | 0.36926516 |
| 89 | MAPK11 | 0.36840161 |
| 90 | TNIK | 0.36567473 |
| 91 | MARK3 | 0.36506256 |
| 92 | PAK3 | 0.36461256 |
| 93 | FGFR3 | 0.36173246 |
| 94 | GSK3B | 0.36068310 |
| 95 | CDK5 | 0.34584117 |
| 96 | MAPK8 | 0.34121456 |
| 97 | TEC | 0.33452776 |
| 98 | BMPR2 | 0.33113873 |
| 99 | FER | 0.32831956 |
| 100 | MAPK1 | 0.32733815 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.78360516 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.75916807 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.36718093 |
| 4 | Nicotine addiction_Homo sapiens_hsa05033 | 2.38205206 |
| 5 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 2.12814415 |
| 6 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.10236722 |
| 7 | Taste transduction_Homo sapiens_hsa04742 | 2.08953466 |
| 8 | Morphine addiction_Homo sapiens_hsa05032 | 2.05903734 |
| 9 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.90424620 |
| 10 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.90312251 |
| 11 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.90191457 |
| 12 | Circadian entrainment_Homo sapiens_hsa04713 | 1.86433609 |
| 13 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.85964324 |
| 14 | Allograft rejection_Homo sapiens_hsa05330 | 1.75800689 |
| 15 | Salivary secretion_Homo sapiens_hsa04970 | 1.72945185 |
| 16 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.71370158 |
| 17 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.66269317 |
| 18 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.62943546 |
| 19 | Phototransduction_Homo sapiens_hsa04744 | 1.60934047 |
| 20 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.55317172 |
| 21 | Insulin secretion_Homo sapiens_hsa04911 | 1.55026430 |
| 22 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.53541243 |
| 23 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.49811009 |
| 24 | GABAergic synapse_Homo sapiens_hsa04727 | 1.47796299 |
| 25 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.47031378 |
| 26 | Gastric acid secretion_Homo sapiens_hsa04971 | 1.31145603 |
| 27 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 1.28253308 |
| 28 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 1.27960931 |
| 29 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.25710303 |
| 30 | cAMP signaling pathway_Homo sapiens_hsa04024 | 1.25286659 |
| 31 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.24052936 |
| 32 | Long-term potentiation_Homo sapiens_hsa04720 | 1.23661330 |
| 33 | ABC transporters_Homo sapiens_hsa02010 | 1.18287753 |
| 34 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.13920375 |
| 35 | Cholinergic synapse_Homo sapiens_hsa04725 | 1.12654769 |
| 36 | Renin secretion_Homo sapiens_hsa04924 | 1.09699540 |
| 37 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.04646807 |
| 38 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.98888781 |
| 39 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.96423270 |
| 40 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.96073915 |
| 41 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.94268678 |
| 42 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.92000153 |
| 43 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.91359412 |
| 44 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.90848093 |
| 45 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.90055765 |
| 46 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.89237198 |
| 47 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.87203361 |
| 48 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.83867729 |
| 49 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.82334574 |
| 50 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.81858145 |
| 51 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.80953958 |
| 52 | Endocytosis_Homo sapiens_hsa04144 | 0.75401350 |
| 53 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.74891845 |
| 54 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.74164525 |
| 55 | Long-term depression_Homo sapiens_hsa04730 | 0.73570322 |
| 56 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.73408893 |
| 57 | Cocaine addiction_Homo sapiens_hsa05030 | 0.70029283 |
| 58 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.69643944 |
| 59 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.69310145 |
| 60 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.67342201 |
| 61 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.65051815 |
| 62 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.64767061 |
| 63 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.63514818 |
| 64 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.62837396 |
| 65 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.62744701 |
| 66 | Viral myocarditis_Homo sapiens_hsa05416 | 0.62298467 |
| 67 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.60714963 |
| 68 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.58657449 |
| 69 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.57392732 |
| 70 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.57262439 |
| 71 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.56946895 |
| 72 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.55790267 |
| 73 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.55785541 |
| 74 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.55103316 |
| 75 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.49833956 |
| 76 | Bile secretion_Homo sapiens_hsa04976 | 0.48753174 |
| 77 | Circadian rhythm_Homo sapiens_hsa04710 | 0.48743574 |
| 78 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.46871630 |
| 79 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.46096424 |
| 80 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.45494650 |
| 81 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.45356461 |
| 82 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.44430034 |
| 83 | Chemokine signaling pathway_Homo sapiens_hsa04062 | 0.43973541 |
| 84 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.40809343 |
| 85 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.40483205 |
| 86 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.39521702 |
| 87 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.38825825 |
| 88 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.37109623 |
| 89 | Platelet activation_Homo sapiens_hsa04611 | 0.35438010 |
| 90 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.34295023 |
| 91 | Influenza A_Homo sapiens_hsa05164 | 0.33877551 |
| 92 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.33550370 |
| 93 | Retinol metabolism_Homo sapiens_hsa00830 | 0.32569291 |
| 94 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.31685828 |
| 95 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.30947008 |
| 96 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.30628739 |
| 97 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.29913205 |
| 98 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.28540866 |
| 99 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.28358879 |
| 100 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.27690632 |

