

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.77329072 |
| 2 | multicellular organism reproduction (GO:0032504) | 8.37916369 |
| 3 | spermatid development (GO:0007286) | 8.31897442 |
| 4 | binding of sperm to zona pellucida (GO:0007339) | 8.18871506 |
| 5 | sperm-egg recognition (GO:0035036) | 7.84772238 |
| 6 | plasma membrane fusion (GO:0045026) | 7.45308577 |
| 7 | reproduction (GO:0000003) | 7.01851688 |
| 8 | response to pheromone (GO:0019236) | 6.83765992 |
| 9 | chromosome condensation (GO:0030261) | 6.79540649 |
| 10 | axonemal dynein complex assembly (GO:0070286) | 6.73993020 |
| 11 | cell-cell recognition (GO:0009988) | 6.62057485 |
| 12 | motile cilium assembly (GO:0044458) | 6.52724726 |
| 13 | sperm capacitation (GO:0048240) | 6.44387127 |
| 14 | coenzyme catabolic process (GO:0009109) | 6.40682614 |
| 15 | microtubule depolymerization (GO:0007019) | 6.39886558 |
| 16 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 6.37437583 |
| 17 | DNA packaging (GO:0006323) | 6.26148977 |
| 18 | calcium ion-dependent exocytosis (GO:0017156) | 6.17382031 |
| 19 | spermatid nucleus differentiation (GO:0007289) | 6.00798030 |
| 20 | single strand break repair (GO:0000012) | 5.70517933 |
| 21 | negative regulation of inclusion body assembly (GO:0090084) | 5.69877999 |
| 22 | single fertilization (GO:0007338) | 5.69229581 |
| 23 | rRNA methylation (GO:0031167) | 5.48560040 |
| 24 | cellular ketone body metabolic process (GO:0046950) | 5.30701804 |
| 25 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.01859313 |
| 26 | male meiosis (GO:0007140) | 4.97903811 |
| 27 | spermatogenesis (GO:0007283) | 4.93246989 |
| 28 | male gamete generation (GO:0048232) | 4.91412914 |
| 29 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 4.87687972 |
| 30 | epithelial cilium movement (GO:0003351) | 4.82535332 |
| 31 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.76307694 |
| 32 | microtubule polymerization or depolymerization (GO:0031109) | 4.71817851 |
| 33 | germ cell development (GO:0007281) | 4.69099026 |
| 34 | positive regulation of catecholamine secretion (GO:0033605) | 4.68359393 |
| 35 | ketone body metabolic process (GO:1902224) | 4.64863503 |
| 36 | regulation of inclusion body assembly (GO:0090083) | 4.57808104 |
| 37 | organic cation transport (GO:0015695) | 4.57311314 |
| 38 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.56146470 |
| 39 | gamete generation (GO:0007276) | 4.50114098 |
| 40 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 4.41679986 |
| 41 | protein polyglutamylation (GO:0018095) | 4.41372685 |
| 42 | rRNA modification (GO:0000154) | 4.41257284 |
| 43 | sexual reproduction (GO:0019953) | 4.39139908 |
| 44 | protein-DNA complex disassembly (GO:0032986) | 4.30705866 |
| 45 | nucleosome disassembly (GO:0006337) | 4.30705866 |
| 46 | polyamine biosynthetic process (GO:0006596) | 4.29361114 |
| 47 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.27808259 |
| 48 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 4.22667235 |
| 49 | centriole assembly (GO:0098534) | 4.18268934 |
| 50 | fertilization (GO:0009566) | 4.13511692 |
| 51 | protein targeting to Golgi (GO:0000042) | 4.07414628 |
| 52 | cilium movement (GO:0003341) | 4.04620632 |
| 53 | negative regulation of Rho protein signal transduction (GO:0035024) | 4.02379809 |
| 54 | microtubule severing (GO:0051013) | 3.97897370 |
| 55 | establishment of protein localization to Golgi (GO:0072600) | 3.91349958 |
| 56 | positive regulation of Rab GTPase activity (GO:0032851) | 3.82208654 |
| 57 | regulation of Rab GTPase activity (GO:0032313) | 3.82208654 |
| 58 | response to acidic pH (GO:0010447) | 3.77025632 |
| 59 | cofactor catabolic process (GO:0051187) | 3.73740072 |
| 60 | regulation of cilium movement (GO:0003352) | 3.71432483 |
| 61 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.67611696 |
| 62 | multicellular organismal reproductive process (GO:0048609) | 3.63670057 |
| 63 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 3.63458408 |
| 64 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.57105913 |
| 65 | cellular zinc ion homeostasis (GO:0006882) | 3.55207940 |
| 66 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.43633800 |
| 67 | ventricular system development (GO:0021591) | 3.40598684 |
| 68 | activation of protein kinase B activity (GO:0032148) | 3.40078518 |
| 69 | relaxation of smooth muscle (GO:0044557) | 3.33738912 |
| 70 | centriole replication (GO:0007099) | 3.25806787 |
| 71 | chromatin silencing (GO:0006342) | 3.24663034 |
| 72 | cell recognition (GO:0008037) | 3.22196386 |
| 73 | cGMP-mediated signaling (GO:0019934) | 3.17590509 |
| 74 | positive regulation of glycolytic process (GO:0045821) | 3.14952331 |
| 75 | protein localization to Golgi apparatus (GO:0034067) | 3.14681780 |
| 76 | regulation of oxidative stress-induced neuron death (GO:1903203) | 3.13741451 |
| 77 | cellular biogenic amine biosynthetic process (GO:0042401) | 3.08766823 |
| 78 | amine biosynthetic process (GO:0009309) | 3.08029737 |
| 79 | cellular response to pH (GO:0071467) | 3.07709164 |
| 80 | regulation of ARF GTPase activity (GO:0032312) | 3.05106243 |
| 81 | histone H3-K9 demethylation (GO:0033169) | 3.03167303 |
| 82 | male sex determination (GO:0030238) | 2.97650223 |
| 83 | zinc ion homeostasis (GO:0055069) | 2.96616074 |
| 84 | mitochondrion degradation (GO:0000422) | 2.89352859 |
| 85 | histone exchange (GO:0043486) | 2.88953283 |
| 86 | regulation of oxidative phosphorylation (GO:0002082) | 2.88173258 |
| 87 | potassium ion export (GO:0071435) | 2.87362654 |
| 88 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.86305854 |
| 89 | nucleus organization (GO:0006997) | 2.85015056 |
| 90 | Leydig cell differentiation (GO:0033327) | 2.84921907 |
| 91 | outflow tract septum morphogenesis (GO:0003148) | 2.83801506 |
| 92 | glycerol ether metabolic process (GO:0006662) | 2.81817626 |
| 93 | glomerular visceral epithelial cell development (GO:0072015) | 2.74721646 |
| 94 | regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510) | 2.73663551 |
| 95 | detection of chemical stimulus involved in sensory perception (GO:0050907) | 2.73631821 |
| 96 | regulation of protein kinase C signaling (GO:0090036) | 2.73610226 |
| 97 | glandular epithelial cell development (GO:0002068) | 2.72489908 |
| 98 | cell wall macromolecule metabolic process (GO:0044036) | 2.68976564 |
| 99 | acrosome reaction (GO:0007340) | 11.7270284 |
| 100 | sperm motility (GO:0030317) | 10.4362298 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 7.27488904 |
| 2 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 4.18185187 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.77382193 |
| 4 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.74588484 |
| 5 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.65331621 |
| 6 | FUS_26573619_Chip-Seq_HEK293_Human | 2.63527205 |
| 7 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.62122771 |
| 8 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.44152118 |
| 9 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.41956864 |
| 10 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.35619685 |
| 11 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.35619685 |
| 12 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 2.21520519 |
| 13 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.20644319 |
| 14 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.18828592 |
| 15 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.18828592 |
| 16 | VDR_22108803_ChIP-Seq_LS180_Human | 2.11178866 |
| 17 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 2.06702410 |
| 18 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.04749560 |
| 19 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 2.02098819 |
| 20 | ERA_21632823_ChIP-Seq_H3396_Human | 1.93830388 |
| 21 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.90560912 |
| 22 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.88419111 |
| 23 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.85001335 |
| 24 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.81370341 |
| 25 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.76775511 |
| 26 | P300_19829295_ChIP-Seq_ESCs_Human | 1.73326009 |
| 27 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.70137926 |
| 28 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.69816466 |
| 29 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.67341284 |
| 30 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.67295046 |
| 31 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.66752583 |
| 32 | AR_25329375_ChIP-Seq_VCAP_Human | 1.63915067 |
| 33 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.63387012 |
| 34 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.62317048 |
| 35 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.57846097 |
| 36 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.54021467 |
| 37 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.53614362 |
| 38 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.51327527 |
| 39 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.49308792 |
| 40 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.48384541 |
| 41 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.46711694 |
| 42 | TBL1_22424771_ChIP-Seq_293T_Human | 1.45480483 |
| 43 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.45217155 |
| 44 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.41411751 |
| 45 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.39111580 |
| 46 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.39015694 |
| 47 | STAT3_23295773_ChIP-Seq_U87_Human | 1.36514119 |
| 48 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.35857112 |
| 49 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.35088914 |
| 50 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.34777891 |
| 51 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.31232971 |
| 52 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.29748569 |
| 53 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.29515141 |
| 54 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.29368105 |
| 55 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.28177387 |
| 56 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.28177387 |
| 57 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.28005560 |
| 58 | CJUN_26792858_Chip-Seq_BT549_Human | 1.26955055 |
| 59 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.25001750 |
| 60 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.24424987 |
| 61 | NFYB_21822215_ChIP-Seq_K562_Human | 1.22283871 |
| 62 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.21877630 |
| 63 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.21525191 |
| 64 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.19397252 |
| 65 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.17767602 |
| 66 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.15018227 |
| 67 | RXR_22108803_ChIP-Seq_LS180_Human | 1.14604940 |
| 68 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.11096941 |
| 69 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.08724351 |
| 70 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.08587384 |
| 71 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.08354750 |
| 72 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.08336090 |
| 73 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 1.08046693 |
| 74 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.06725980 |
| 75 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.05422386 |
| 76 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.04833592 |
| 77 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.04346821 |
| 78 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.04334914 |
| 79 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.03665014 |
| 80 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.02528848 |
| 81 | FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.02446847 |
| 82 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.01024518 |
| 83 | NCOR_22424771_ChIP-Seq_293T_Human | 1.00904176 |
| 84 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.00620548 |
| 85 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 0.99965818 |
| 86 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 0.99363677 |
| 87 | PHF8_20622854_ChIP-Seq_HELA_Human | 0.98827109 |
| 88 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 0.97025543 |
| 89 | BCAT_22108803_ChIP-Seq_LS180_Human | 0.96967666 |
| 90 | P300_27268052_Chip-Seq_Bcells_Human | 0.96681073 |
| 91 | DROSHA_22980978_ChIP-Seq_HELA_Human | 0.96610846 |
| 92 | CBP_21632823_ChIP-Seq_H3396_Human | 0.96511111 |
| 93 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 0.95906740 |
| 94 | TCF4_23295773_ChIP-Seq_U87_Human | 0.95581855 |
| 95 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 0.95562087 |
| 96 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 0.95058829 |
| 97 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 0.94457826 |
| 98 | NFYA_21822215_ChIP-Seq_K562_Human | 0.92894663 |
| 99 | CDX2_22108803_ChIP-Seq_LS180_Human | 0.91878745 |
| 100 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 0.91603942 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 3.86777573 |
| 2 | MP0001929_abnormal_gametogenesis | 3.44329246 |
| 3 | MP0005248_abnormal_Harderian_gland | 3.19381828 |
| 4 | MP0003315_abnormal_perineum_morphology | 2.92966574 |
| 5 | MP0002132_abnormal_respiratory_system | 2.81484022 |
| 6 | MP0001984_abnormal_olfaction | 2.63923764 |
| 7 | MP0003878_abnormal_ear_physiology | 2.61614186 |
| 8 | MP0005377_hearing/vestibular/ear_phenot | 2.61614186 |
| 9 | MP0008004_abnormal_stomach_pH | 2.56523081 |
| 10 | MP0002160_abnormal_reproductive_system | 2.18465407 |
| 11 | MP0003718_maternal_effect | 2.10916972 |
| 12 | MP0002161_abnormal_fertility/fecundity | 2.08168621 |
| 13 | MP0009697_abnormal_copulation | 2.03617597 |
| 14 | MP0000678_abnormal_parathyroid_gland | 2.01073151 |
| 15 | MP0003136_yellow_coat_color | 2.00379870 |
| 16 | MP0002249_abnormal_larynx_morphology | 2.00296083 |
| 17 | MP0005410_abnormal_fertilization | 11.3651890 |
| 18 | MP0003011_delayed_dark_adaptation | 1.83797121 |
| 19 | MP0001348_abnormal_lacrimal_gland | 1.78081797 |
| 20 | MP0005670_abnormal_white_adipose | 1.75543563 |
| 21 | MP0005360_urolithiasis | 1.63135103 |
| 22 | MP0010368_abnormal_lymphatic_system | 1.55012635 |
| 23 | MP0002282_abnormal_trachea_morphology | 1.52574000 |
| 24 | MP0002210_abnormal_sex_determination | 1.50129411 |
| 25 | MP0010030_abnormal_orbit_morphology | 1.48947888 |
| 26 | MP0001661_extended_life_span | 1.38986456 |
| 27 | MP0006072_abnormal_retinal_apoptosis | 1.38581664 |
| 28 | MP0001145_abnormal_male_reproductive | 1.34369911 |
| 29 | MP0003879_abnormal_hair_cell | 1.33977203 |
| 30 | MP0010386_abnormal_urinary_bladder | 1.33914867 |
| 31 | MP0005253_abnormal_eye_physiology | 1.33001861 |
| 32 | MP0001905_abnormal_dopamine_level | 1.29074462 |
| 33 | MP0001968_abnormal_touch/_nociception | 1.24981525 |
| 34 | MP0000534_abnormal_ureter_morphology | 1.24531162 |
| 35 | MP0005423_abnormal_somatic_nervous | 1.21104390 |
| 36 | MP0001486_abnormal_startle_reflex | 1.20586524 |
| 37 | MP0003806_abnormal_nucleotide_metabolis | 1.19686195 |
| 38 | MP0000653_abnormal_sex_gland | 1.19509029 |
| 39 | MP0003646_muscle_fatigue | 1.19378180 |
| 40 | MP0001485_abnormal_pinna_reflex | 1.19340666 |
| 41 | MP0005379_endocrine/exocrine_gland_phen | 1.13650300 |
| 42 | MP0002127_abnormal_cardiovascular_syste | 1.13519235 |
| 43 | MP0001188_hyperpigmentation | 1.13235419 |
| 44 | MP0005395_other_phenotype | 1.10055413 |
| 45 | MP0009780_abnormal_chondrocyte_physiolo | 1.09756487 |
| 46 | MP0004085_abnormal_heartbeat | 1.09040989 |
| 47 | MP0001501_abnormal_sleep_pattern | 1.08253302 |
| 48 | MP0004084_abnormal_cardiac_muscle | 1.07414565 |
| 49 | MP0005647_abnormal_sex_gland | 1.06460240 |
| 50 | MP0010234_abnormal_vibrissa_follicle | 1.06423656 |
| 51 | MP0004036_abnormal_muscle_relaxation | 1.01787549 |
| 52 | MP0005551_abnormal_eye_electrophysiolog | 1.01608515 |
| 53 | MP0001664_abnormal_digestion | 0.99560347 |
| 54 | MP0002234_abnormal_pharynx_morphology | 0.94046157 |
| 55 | MP0004742_abnormal_vestibular_system | 0.93595571 |
| 56 | MP0003632_abnormal_nervous_system | 0.93151266 |
| 57 | MP0005389_reproductive_system_phenotype | 0.92447959 |
| 58 | MP0000749_muscle_degeneration | 0.88319870 |
| 59 | MP0008995_early_reproductive_senescence | 0.86791376 |
| 60 | MP0004510_myositis | 0.86548292 |
| 61 | MP0005595_abnormal_vascular_smooth | 0.86138414 |
| 62 | MP0001765_abnormal_ion_homeostasis | 0.84347886 |
| 63 | MP0005187_abnormal_penis_morphology | 0.80551164 |
| 64 | MP0000230_abnormal_systemic_arterial | 0.80522920 |
| 65 | MP0003045_fibrosis | 0.79349832 |
| 66 | MP0000026_abnormal_inner_ear | 0.76708503 |
| 67 | MP0002229_neurodegeneration | 0.75447706 |
| 68 | MP0003631_nervous_system_phenotype | 0.73751929 |
| 69 | MP0008775_abnormal_heart_ventricle | 0.73732104 |
| 70 | MP0000613_abnormal_salivary_gland | 0.72389600 |
| 71 | MP0003880_abnormal_central_pattern | 0.72092056 |
| 72 | MP0001963_abnormal_hearing_physiology | 0.71777654 |
| 73 | MP0004484_altered_response_of | 0.71675458 |
| 74 | MP0006036_abnormal_mitochondrial_physio | 0.70014385 |
| 75 | MP0002067_abnormal_sensory_capabilities | 0.67606619 |
| 76 | MP0003936_abnormal_reproductive_system | 0.67434046 |
| 77 | MP0005332_abnormal_amino_acid | 0.66028396 |
| 78 | MP0000538_abnormal_urinary_bladder | 0.65844146 |
| 79 | MP0002108_abnormal_muscle_morphology | 0.65229364 |
| 80 | MP0002272_abnormal_nervous_system | 0.61653629 |
| 81 | MP0002269_muscular_atrophy | 0.59304199 |
| 82 | MP0002233_abnormal_nose_morphology | 0.58332152 |
| 83 | MP0001270_distended_abdomen | 0.58106742 |
| 84 | MP0003633_abnormal_nervous_system | 0.56751197 |
| 85 | MP0005623_abnormal_meninges_morphology | 0.56319429 |
| 86 | MP0005391_vision/eye_phenotype | 0.55769171 |
| 87 | MP0003195_calcinosis | 0.55695661 |
| 88 | MP0004215_abnormal_myocardial_fiber | 0.54461802 |
| 89 | MP0002837_dystrophic_cardiac_calcinosis | 0.53500709 |
| 90 | MP0000470_abnormal_stomach_morphology | 0.52630402 |
| 91 | MP0009115_abnormal_fat_cell | 0.52628527 |
| 92 | MP0002138_abnormal_hepatobiliary_system | 0.52037124 |
| 93 | MP0005083_abnormal_biliary_tract | 0.51402827 |
| 94 | MP0009046_muscle_twitch | 0.51203073 |
| 95 | MP0000427_abnormal_hair_cycle | 0.50841384 |
| 96 | MP0005636_abnormal_mineral_homeostasis | 0.50199760 |
| 97 | MP0000955_abnormal_spinal_cord | 0.48189449 |
| 98 | MP0008961_abnormal_basal_metabolism | 0.47689253 |
| 99 | MP0003283_abnormal_digestive_organ | 0.47448784 |
| 100 | MP0001849_ear_inflammation | 0.47348727 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Resting tremor (HP:0002322) | 6.33470369 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.13890595 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 6.13890595 |
| 4 | Severe visual impairment (HP:0001141) | 5.53319721 |
| 5 | Abnormal ciliary motility (HP:0012262) | 5.33617233 |
| 6 | Abnormal respiratory motile cilium physiology (HP:0012261) | 5.26147811 |
| 7 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 5.02726507 |
| 8 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.59787928 |
| 9 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.59787928 |
| 10 | Infertility (HP:0000789) | 4.38675983 |
| 11 | Postural instability (HP:0002172) | 4.24327012 |
| 12 | Attenuation of retinal blood vessels (HP:0007843) | 3.97241518 |
| 13 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.93439442 |
| 14 | Tubulointerstitial nephritis (HP:0001970) | 3.92905736 |
| 15 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.71458758 |
| 16 | Sex reversal (HP:0012245) | 3.63257974 |
| 17 | Abnormal sex determination (HP:0012244) | 3.63257974 |
| 18 | Sensory axonal neuropathy (HP:0003390) | 3.57541238 |
| 19 | Nasal polyposis (HP:0100582) | 3.53029048 |
| 20 | Abnormal pancreas size (HP:0012094) | 3.42217891 |
| 21 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.24039476 |
| 22 | Congenital sensorineural hearing impairment (HP:0008527) | 3.15822188 |
| 23 | Hypoplasia of the uterus (HP:0000013) | 3.13431655 |
| 24 | Azoospermia (HP:0000027) | 3.10348354 |
| 25 | Abnormality of macular pigmentation (HP:0008002) | 3.07372663 |
| 26 | Abnormality of the columella (HP:0009929) | 2.97772513 |
| 27 | Cerebellar dysplasia (HP:0007033) | 2.91476109 |
| 28 | Rhinitis (HP:0012384) | 2.89814209 |
| 29 | Abnormality of the nasal mucosa (HP:0000433) | 2.87303588 |
| 30 | Reduced antithrombin III activity (HP:0001976) | 2.84275078 |
| 31 | Asymmetric septal hypertrophy (HP:0001670) | 2.79341502 |
| 32 | Recurrent corneal erosions (HP:0000495) | 2.79055816 |
| 33 | Male pseudohermaphroditism (HP:0000037) | 2.76544089 |
| 34 | Hypoplastic ischia (HP:0003175) | 2.72643206 |
| 35 | Polydipsia (HP:0001959) | 2.66291130 |
| 36 | Abnormal drinking behavior (HP:0030082) | 2.66291130 |
| 37 | Bell-shaped thorax (HP:0001591) | 2.57058671 |
| 38 | Aplasia/hypoplasia of the uterus (HP:0008684) | 2.56131002 |
| 39 | Chronic hepatic failure (HP:0100626) | 2.55724127 |
| 40 | Male infertility (HP:0003251) | 2.54496266 |
| 41 | Abnormal spermatogenesis (HP:0008669) | 2.53631726 |
| 42 | Abnormality of the ischium (HP:0003174) | 2.48956948 |
| 43 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.43343898 |
| 44 | Type II lissencephaly (HP:0007260) | 2.42173159 |
| 45 | Potter facies (HP:0002009) | 2.41516830 |
| 46 | Facial shape deformation (HP:0011334) | 2.41516830 |
| 47 | Abnormal urine output (HP:0012590) | 2.40318840 |
| 48 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.39955375 |
| 49 | Hyperkalemia (HP:0002153) | 2.35513810 |
| 50 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 2.32452463 |
| 51 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 2.32452463 |
| 52 | Colitis (HP:0002583) | 2.31081385 |
| 53 | Atonic seizures (HP:0010819) | 2.31079404 |
| 54 | Occipital encephalocele (HP:0002085) | 2.30081294 |
| 55 | Bronchiectasis (HP:0002110) | 2.29691670 |
| 56 | Renal dysplasia (HP:0000110) | 2.25225975 |
| 57 | Gonadal dysgenesis (HP:0000133) | 2.22359150 |
| 58 | Ventricular fibrillation (HP:0001663) | 2.20110177 |
| 59 | Polyuria (HP:0000103) | 2.19575144 |
| 60 | Inability to walk (HP:0002540) | 2.19101621 |
| 61 | Abnormality of renal excretion (HP:0011036) | 2.18725656 |
| 62 | Retinal dysplasia (HP:0007973) | 2.17253351 |
| 63 | Focal segmental glomerulosclerosis (HP:0000097) | 2.13038234 |
| 64 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.11034346 |
| 65 | Absent epiphyses (HP:0010577) | 2.11034346 |
| 66 | Median cleft lip (HP:0000161) | 2.10759007 |
| 67 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 2.09768315 |
| 68 | Optic nerve hypoplasia (HP:0000609) | 2.06672294 |
| 69 | Thoracolumbar scoliosis (HP:0002944) | 2.04765359 |
| 70 | Flattened epiphyses (HP:0003071) | 2.03807389 |
| 71 | Progressive cerebellar ataxia (HP:0002073) | 2.01020238 |
| 72 | Abnormality of dental color (HP:0011073) | 2.00887175 |
| 73 | Unilateral renal agenesis (HP:0000122) | 1.97633362 |
| 74 | Thoracic kyphosis (HP:0002942) | 1.97025289 |
| 75 | Cone-rod dystrophy (HP:0000548) | 1.96840696 |
| 76 | Pancreatic fibrosis (HP:0100732) | 1.94057679 |
| 77 | Enlarged epiphyses (HP:0010580) | 1.92157803 |
| 78 | High pitched voice (HP:0001620) | 1.90097610 |
| 79 | Pili torti (HP:0003777) | 1.88035666 |
| 80 | Germ cell neoplasia (HP:0100728) | 1.87868020 |
| 81 | Chronic bronchitis (HP:0004469) | 1.87866694 |
| 82 | Retinal atrophy (HP:0001105) | 1.86485820 |
| 83 | Atrial fibrillation (HP:0005110) | 1.86261200 |
| 84 | Stage 5 chronic kidney disease (HP:0003774) | 1.85212738 |
| 85 | Abnormality of potassium homeostasis (HP:0011042) | 1.84854529 |
| 86 | Tetany (HP:0001281) | 1.83433397 |
| 87 | Hyperthyroidism (HP:0000836) | 1.83230596 |
| 88 | Glomerulosclerosis (HP:0000096) | 1.83158600 |
| 89 | Bulbous nose (HP:0000414) | 1.81423898 |
| 90 | Tubulointerstitial abnormality (HP:0001969) | 1.80527903 |
| 91 | Pancreatic cysts (HP:0001737) | 1.80495770 |
| 92 | Abnormality of the intrinsic pathway (HP:0010989) | 1.80464715 |
| 93 | Generalized aminoaciduria (HP:0002909) | 1.77403175 |
| 94 | Abnormality of the frontal sinuses (HP:0002687) | 1.76312150 |
| 95 | Calf muscle hypertrophy (HP:0008981) | 1.75875729 |
| 96 | Muscle hypertrophy of the lower extremities (HP:0008968) | 1.74767410 |
| 97 | Buphthalmos (HP:0000557) | 1.74365159 |
| 98 | Self-mutilation (HP:0000742) | 1.74190096 |
| 99 | Hyponatremia (HP:0002902) | 1.74063778 |
| 100 | True hermaphroditism (HP:0010459) | 1.71857190 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PINK1 | 8.64430034 |
| 2 | PLK4 | 4.42940891 |
| 3 | MARK3 | 3.62222967 |
| 4 | PDK2 | 3.31863194 |
| 5 | MST1R | 3.03254714 |
| 6 | MAP4K2 | 2.73665354 |
| 7 | STK38L | 2.62765508 |
| 8 | STK38 | 2.60849443 |
| 9 | DDR2 | 2.59934563 |
| 10 | LATS1 | 2.55767643 |
| 11 | INSRR | 2.38504890 |
| 12 | FRK | 2.38353229 |
| 13 | MYLK | 2.30284283 |
| 14 | TESK1 | 2.27201374 |
| 15 | TLK1 | 2.02780449 |
| 16 | BRD4 | 1.98831915 |
| 17 | NEK2 | 1.95242593 |
| 18 | ZAK | 1.85471748 |
| 19 | BMPR1B | 1.83156299 |
| 20 | LATS2 | 1.79792229 |
| 21 | MAPK15 | 1.76423982 |
| 22 | NEK6 | 1.47485344 |
| 23 | TNIK | 1.36976777 |
| 24 | PTK2B | 1.29970967 |
| 25 | WNK1 | 1.27517948 |
| 26 | OBSCN | 1.26174383 |
| 27 | PLK2 | 1.25288426 |
| 28 | PDPK1 | 1.21873792 |
| 29 | CDK3 | 1.16883719 |
| 30 | RPS6KA5 | 1.15071635 |
| 31 | MET | 1.13043096 |
| 32 | MAP3K9 | 1.03742977 |
| 33 | PRKG2 | 0.98807592 |
| 34 | MAP2K7 | 0.98248276 |
| 35 | CDK12 | 0.98039243 |
| 36 | WNK4 | 0.96910290 |
| 37 | PDK1 | 0.94871069 |
| 38 | PRKD3 | 0.92708556 |
| 39 | PIK3CG | 0.82607754 |
| 40 | SGK494 | 0.82022227 |
| 41 | SGK223 | 0.82022227 |
| 42 | PNCK | 0.81143735 |
| 43 | STK39 | 0.81067700 |
| 44 | MST4 | 0.70971251 |
| 45 | MAP3K1 | 0.70320400 |
| 46 | PRKCQ | 0.68979464 |
| 47 | AKT3 | 0.65210502 |
| 48 | DYRK3 | 0.62752591 |
| 49 | ROCK1 | 0.61985730 |
| 50 | ACVR1B | 0.54754671 |
| 51 | CDK7 | 0.54249821 |
| 52 | KSR2 | 0.50053179 |
| 53 | PRKAA2 | 0.49286588 |
| 54 | MUSK | 0.44221993 |
| 55 | MAP3K2 | 0.42594085 |
| 56 | PRKG1 | 0.42249587 |
| 57 | FGFR2 | 0.40619452 |
| 58 | CAMK1G | 0.40599105 |
| 59 | CSNK1A1L | 0.39284041 |
| 60 | TGFBR1 | 0.38957150 |
| 61 | ADRBK2 | 0.38819943 |
| 62 | STK3 | 0.36872385 |
| 63 | MTOR | 0.36665911 |
| 64 | CAMK1 | 0.34978065 |
| 65 | NME2 | 0.34486338 |
| 66 | PBK | 0.33523199 |
| 67 | TIE1 | 0.31416365 |
| 68 | AKT2 | 0.30751279 |
| 69 | EGFR | 0.30511189 |
| 70 | PAK2 | 0.29776460 |
| 71 | RPS6KA1 | 0.26299437 |
| 72 | NTRK3 | 0.24531468 |
| 73 | ARAF | 0.23553760 |
| 74 | CDK8 | 0.23452863 |
| 75 | MELK | 0.23339334 |
| 76 | MAPK1 | 0.22517301 |
| 77 | CDC42BPA | 0.22119052 |
| 78 | RPS6KB1 | 0.21977432 |
| 79 | PRKCG | 0.21945410 |
| 80 | MAPK12 | 0.21111629 |
| 81 | NTRK2 | 0.20945245 |
| 82 | MAP3K8 | 0.20798229 |
| 83 | TRPM7 | 0.20421914 |
| 84 | MAPKAPK3 | 0.20095132 |
| 85 | CDK5 | 0.19493801 |
| 86 | SGK2 | 0.18359777 |
| 87 | CDK14 | 0.18086180 |
| 88 | EEF2K | 0.17980870 |
| 89 | CAMK2D | 0.17760587 |
| 90 | CCNB1 | 0.17523560 |
| 91 | EPHA2 | 0.15347072 |
| 92 | PAK1 | 0.15214913 |
| 93 | PLK1 | 0.14908112 |
| 94 | GRK1 | 0.14612553 |
| 95 | MOS | 0.14535412 |
| 96 | GSK3B | 0.14465187 |
| 97 | DYRK1B | 0.14176692 |
| 98 | BRSK2 | 0.14026987 |
| 99 | ATM | 0.13945367 |
| 100 | CDK1 | 0.13307340 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.57047190 |
| 2 | Olfactory transduction_Homo sapiens_hsa04740 | 4.21476561 |
| 3 | Butanoate metabolism_Homo sapiens_hsa00650 | 3.66383073 |
| 4 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.44415937 |
| 5 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 2.99606203 |
| 6 | Gap junction_Homo sapiens_hsa04540 | 2.57596962 |
| 7 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.49022573 |
| 8 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 2.44903066 |
| 9 | Arginine biosynthesis_Homo sapiens_hsa00220 | 2.34360691 |
| 10 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 2.18332574 |
| 11 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.01456019 |
| 12 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 2.00982042 |
| 13 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.74275314 |
| 14 | Taste transduction_Homo sapiens_hsa04742 | 1.70612855 |
| 15 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.54423633 |
| 16 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.46633096 |
| 17 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.41383975 |
| 18 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.37268358 |
| 19 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.28134072 |
| 20 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.21757125 |
| 21 | Phagosome_Homo sapiens_hsa04145 | 1.18999049 |
| 22 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.18732721 |
| 23 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.17417422 |
| 24 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.16233418 |
| 25 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.15739218 |
| 26 | Renin secretion_Homo sapiens_hsa04924 | 1.15495452 |
| 27 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.14883894 |
| 28 | Circadian rhythm_Homo sapiens_hsa04710 | 1.14742438 |
| 29 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 1.11150764 |
| 30 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.10569925 |
| 31 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.10315400 |
| 32 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.10018182 |
| 33 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.07999139 |
| 34 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.07817828 |
| 35 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.05178797 |
| 36 | Salivary secretion_Homo sapiens_hsa04970 | 1.05037790 |
| 37 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.03793753 |
| 38 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.03477568 |
| 39 | Purine metabolism_Homo sapiens_hsa00230 | 1.02446955 |
| 40 | Insulin secretion_Homo sapiens_hsa04911 | 1.01908192 |
| 41 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 1.01003444 |
| 42 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.96309171 |
| 43 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.93811278 |
| 44 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.93282293 |
| 45 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.90175604 |
| 46 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.89059772 |
| 47 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.85545603 |
| 48 | Apoptosis_Homo sapiens_hsa04210 | 0.84375387 |
| 49 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.84235858 |
| 50 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.82193710 |
| 51 | Alcoholism_Homo sapiens_hsa05034 | 0.82031288 |
| 52 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.81880046 |
| 53 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.81275360 |
| 54 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.80146537 |
| 55 | Retinol metabolism_Homo sapiens_hsa00830 | 0.79234521 |
| 56 | Circadian entrainment_Homo sapiens_hsa04713 | 0.77636062 |
| 57 | Basal transcription factors_Homo sapiens_hsa03022 | 0.77389584 |
| 58 | ABC transporters_Homo sapiens_hsa02010 | 0.73551884 |
| 59 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.72738734 |
| 60 | Bile secretion_Homo sapiens_hsa04976 | 0.68518804 |
| 61 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.67524878 |
| 62 | RNA transport_Homo sapiens_hsa03013 | 0.67457412 |
| 63 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.64277790 |
| 64 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.62947147 |
| 65 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.61650417 |
| 66 | Sulfur relay system_Homo sapiens_hsa04122 | 0.59216158 |
| 67 | Histidine metabolism_Homo sapiens_hsa00340 | 0.58952837 |
| 68 | Phototransduction_Homo sapiens_hsa04744 | 0.57101522 |
| 69 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.56219170 |
| 70 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.54667870 |
| 71 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.54616137 |
| 72 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.52063437 |
| 73 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.51944530 |
| 74 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.49250220 |
| 75 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.47871777 |
| 76 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.47010002 |
| 77 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.46539119 |
| 78 | Peroxisome_Homo sapiens_hsa04146 | 0.45642745 |
| 79 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.43903866 |
| 80 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.43541772 |
| 81 | Mineral absorption_Homo sapiens_hsa04978 | 0.41003615 |
| 82 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.38106601 |
| 83 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.37963040 |
| 84 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.37122255 |
| 85 | Morphine addiction_Homo sapiens_hsa05032 | 0.36441329 |
| 86 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.35871981 |
| 87 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.35190394 |
| 88 | Metabolic pathways_Homo sapiens_hsa01100 | 0.35080125 |
| 89 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.34761522 |
| 90 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.33713284 |
| 91 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.33621768 |
| 92 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.30186886 |
| 93 | Tight junction_Homo sapiens_hsa04530 | 0.30151783 |
| 94 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.29557307 |
| 95 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.28977523 |
| 96 | GABAergic synapse_Homo sapiens_hsa04727 | 0.28193805 |
| 97 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.26268283 |
| 98 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.25175582 |
| 99 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.23508732 |
| 100 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.22369103 |

