

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | acrosome reaction (GO:0007340) | 9.65738442 |
| 2 | sperm motility (GO:0030317) | 9.57121180 |
| 3 | spermatid development (GO:0007286) | 8.28626753 |
| 4 | male meiosis (GO:0007140) | 8.13797268 |
| 5 | piRNA metabolic process (GO:0034587) | 7.91658410 |
| 6 | binding of sperm to zona pellucida (GO:0007339) | 7.58802005 |
| 7 | fusion of sperm to egg plasma membrane (GO:0007342) | 7.16011280 |
| 8 | sperm-egg recognition (GO:0035036) | 7.15896631 |
| 9 | multicellular organism reproduction (GO:0032504) | 6.92757749 |
| 10 | motile cilium assembly (GO:0044458) | 6.53856273 |
| 11 | synapsis (GO:0007129) | 6.40719504 |
| 12 | axonemal dynein complex assembly (GO:0070286) | 6.29396787 |
| 13 | cell-cell recognition (GO:0009988) | 6.02569682 |
| 14 | DNA methylation involved in gamete generation (GO:0043046) | 5.85077942 |
| 15 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.71210458 |
| 16 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.59157866 |
| 17 | plasma membrane fusion (GO:0045026) | 5.53117938 |
| 18 | reproduction (GO:0000003) | 5.52186679 |
| 19 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 5.48531946 |
| 20 | sperm capacitation (GO:0048240) | 5.38862906 |
| 21 | protein polyglutamylation (GO:0018095) | 5.37481980 |
| 22 | negative regulation of inclusion body assembly (GO:0090084) | 5.32277500 |
| 23 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.21950440 |
| 24 | polyamine biosynthetic process (GO:0006596) | 5.18610159 |
| 25 | calcium ion-dependent exocytosis (GO:0017156) | 5.10529924 |
| 26 | germ cell development (GO:0007281) | 5.04168288 |
| 27 | spermatid nucleus differentiation (GO:0007289) | 4.93363842 |
| 28 | regulation of meiosis I (GO:0060631) | 4.92398022 |
| 29 | epithelial cilium movement (GO:0003351) | 4.85687639 |
| 30 | single fertilization (GO:0007338) | 4.83893345 |
| 31 | regulation of cilium movement (GO:0003352) | 4.79992262 |
| 32 | single strand break repair (GO:0000012) | 4.69405284 |
| 33 | organic cation transport (GO:0015695) | 4.68204555 |
| 34 | microtubule depolymerization (GO:0007019) | 4.63642881 |
| 35 | positive regulation of catecholamine secretion (GO:0033605) | 4.61480347 |
| 36 | spermatogenesis (GO:0007283) | 4.59280094 |
| 37 | male gamete generation (GO:0048232) | 4.58800152 |
| 38 | chromosome condensation (GO:0030261) | 4.53761677 |
| 39 | DNA packaging (GO:0006323) | 4.43522775 |
| 40 | microtubule severing (GO:0051013) | 4.30976282 |
| 41 | gamete generation (GO:0007276) | 4.23782807 |
| 42 | meiotic nuclear division (GO:0007126) | 4.20464893 |
| 43 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.19176241 |
| 44 | cellular ketone body metabolic process (GO:0046950) | 4.16603281 |
| 45 | cilium movement (GO:0003341) | 4.08623551 |
| 46 | fertilization (GO:0009566) | 4.02146141 |
| 47 | nucleosome disassembly (GO:0006337) | 4.01283963 |
| 48 | protein-DNA complex disassembly (GO:0032986) | 4.01283963 |
| 49 | cellular biogenic amine biosynthetic process (GO:0042401) | 3.90534588 |
| 50 | chromosome organization involved in meiosis (GO:0070192) | 3.89250865 |
| 51 | establishment of protein localization to Golgi (GO:0072600) | 3.87703268 |
| 52 | histone exchange (GO:0043486) | 3.82315150 |
| 53 | protein targeting to Golgi (GO:0000042) | 3.80158011 |
| 54 | relaxation of smooth muscle (GO:0044557) | 3.76810514 |
| 55 | ketone body metabolic process (GO:1902224) | 3.74392572 |
| 56 | oogenesis (GO:0048477) | 3.73496455 |
| 57 | DNA double-strand break processing (GO:0000729) | 3.70524983 |
| 58 | regulation of inclusion body assembly (GO:0090083) | 3.70422422 |
| 59 | amine biosynthetic process (GO:0009309) | 3.69474486 |
| 60 | histone H3-K9 demethylation (GO:0033169) | 3.67905566 |
| 61 | centriole assembly (GO:0098534) | 3.63261246 |
| 62 | rRNA methylation (GO:0031167) | 3.59762669 |
| 63 | microtubule polymerization or depolymerization (GO:0031109) | 3.57203768 |
| 64 | potassium ion export (GO:0071435) | 3.57178123 |
| 65 | regulation of dopamine secretion (GO:0014059) | 3.49168048 |
| 66 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 3.48666093 |
| 67 | male meiosis I (GO:0007141) | 3.47124602 |
| 68 | positive regulation of meiotic cell cycle (GO:0051446) | 3.44933998 |
| 69 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 3.44427010 |
| 70 | regulation of histone H3-K9 methylation (GO:0051570) | 3.43665380 |
| 71 | rRNA modification (GO:0000154) | 3.43336684 |
| 72 | multicellular organismal reproductive process (GO:0048609) | 3.35826636 |
| 73 | response to acidic pH (GO:0010447) | 3.33057641 |
| 74 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 3.32741106 |
| 75 | regulation of centriole replication (GO:0046599) | 3.31654113 |
| 76 | positive regulation of meiosis (GO:0045836) | 3.30240796 |
| 77 | protein localization to Golgi apparatus (GO:0034067) | 3.28559611 |
| 78 | ventricular system development (GO:0021591) | 3.22526178 |
| 79 | male sex determination (GO:0030238) | 3.21026313 |
| 80 | polyamine metabolic process (GO:0006595) | 3.18400321 |
| 81 | coenzyme catabolic process (GO:0009109) | 3.17317695 |
| 82 | response to pheromone (GO:0019236) | 3.13542857 |
| 83 | centriole replication (GO:0007099) | 3.13302167 |
| 84 | regulation of microtubule-based movement (GO:0060632) | 3.08355752 |
| 85 | female gamete generation (GO:0007292) | 3.06036350 |
| 86 | gene silencing by RNA (GO:0031047) | 3.05006296 |
| 87 | meiotic cell cycle (GO:0051321) | 2.90053062 |
| 88 | gonadal mesoderm development (GO:0007506) | 2.89445786 |
| 89 | meiosis I (GO:0007127) | 2.86557401 |
| 90 | tachykinin receptor signaling pathway (GO:0007217) | 2.85619446 |
| 91 | androgen biosynthetic process (GO:0006702) | 2.85584937 |
| 92 | leukotriene biosynthetic process (GO:0019370) | 2.81392113 |
| 93 | regulation of female gonad development (GO:2000194) | 2.79166197 |
| 94 | DNA synthesis involved in DNA repair (GO:0000731) | 2.78955110 |
| 95 | negative regulation of synaptic transmission, glutamatergic (GO:0051967) | 2.78123433 |
| 96 | acrosome assembly (GO:0001675) | 2.75261588 |
| 97 | regulation of mitochondrial translation (GO:0070129) | 2.75210859 |
| 98 | response to misfolded protein (GO:0051788) | 2.74556228 |
| 99 | regulation of Rab GTPase activity (GO:0032313) | 2.73598634 |
| 100 | positive regulation of Rab GTPase activity (GO:0032851) | 2.73598634 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 5.96226541 |
| 2 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 4.93743851 |
| 3 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.50177582 |
| 4 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.86361863 |
| 5 | IGF1R_20145208_ChIP-Seq_DFB_Human | 3.62529236 |
| 6 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 3.26186361 |
| 7 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.93885903 |
| 8 | VDR_22108803_ChIP-Seq_LS180_Human | 2.82102347 |
| 9 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.78381227 |
| 10 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.25315841 |
| 11 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.12393633 |
| 12 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.03389082 |
| 13 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.03389082 |
| 14 | ERA_21632823_ChIP-Seq_H3396_Human | 1.97131579 |
| 15 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.92367488 |
| 16 | FUS_26573619_Chip-Seq_HEK293_Human | 1.89324723 |
| 17 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.88449276 |
| 18 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.88448562 |
| 19 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.82715824 |
| 20 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.82702929 |
| 21 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.77224123 |
| 22 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.76726654 |
| 23 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.76206748 |
| 24 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.76206748 |
| 25 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.67760965 |
| 26 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.66976863 |
| 27 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.66882644 |
| 28 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.62335791 |
| 29 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.61368684 |
| 30 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.57013488 |
| 31 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.56809974 |
| 32 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.56597048 |
| 33 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.54963069 |
| 34 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.54198560 |
| 35 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.52591108 |
| 36 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.51614076 |
| 37 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.50855914 |
| 38 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.49763636 |
| 39 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.48565043 |
| 40 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.47319119 |
| 41 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.45679867 |
| 42 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.45300242 |
| 43 | P300_27268052_Chip-Seq_Bcells_Human | 1.43755527 |
| 44 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.43534625 |
| 45 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.42360430 |
| 46 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.42320117 |
| 47 | AR_25329375_ChIP-Seq_VCAP_Human | 1.38657407 |
| 48 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.38170804 |
| 49 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.37932113 |
| 50 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.36616802 |
| 51 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.36159812 |
| 52 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.34013285 |
| 53 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.33959183 |
| 54 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.33380264 |
| 55 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.32212140 |
| 56 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.31427154 |
| 57 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.31036857 |
| 58 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.29986019 |
| 59 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.28070142 |
| 60 | NFYB_21822215_ChIP-Seq_K562_Human | 1.27426816 |
| 61 | STAT3_23295773_ChIP-Seq_U87_Human | 1.27054659 |
| 62 | P300_19829295_ChIP-Seq_ESCs_Human | 1.25944941 |
| 63 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.25481699 |
| 64 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.25481699 |
| 65 | TBL1_22424771_ChIP-Seq_293T_Human | 1.25379230 |
| 66 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.22839499 |
| 67 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.21782623 |
| 68 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.20525566 |
| 69 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.20203758 |
| 70 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.19740020 |
| 71 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.17755535 |
| 72 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.17416842 |
| 73 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.15977253 |
| 74 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.15946231 |
| 75 | P68_20966046_ChIP-Seq_HELA_Human | 1.15485379 |
| 76 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.14762915 |
| 77 | NFYA_21822215_ChIP-Seq_K562_Human | 1.13943092 |
| 78 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.13792085 |
| 79 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.13636342 |
| 80 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.13534132 |
| 81 | NCOR_22424771_ChIP-Seq_293T_Human | 1.12748097 |
| 82 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.11368974 |
| 83 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.10708967 |
| 84 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.10598098 |
| 85 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.10420155 |
| 86 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 1.08502406 |
| 87 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.07202816 |
| 88 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.06809365 |
| 89 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.06045754 |
| 90 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.05144310 |
| 91 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 1.04862542 |
| 92 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.03726568 |
| 93 | GATA3_26560356_Chip-Seq_TH1_Human | 1.02982450 |
| 94 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.01624908 |
| 95 | TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.00937666 |
| 96 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.00596331 |
| 97 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 0.99873228 |
| 98 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 0.98881991 |
| 99 | OCT4_19829295_ChIP-Seq_ESCs_Human | 0.96018770 |
| 100 | TP53_22573176_ChIP-Seq_HFKS_Human | 0.94050413 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 9.59541116 |
| 2 | MP0003698_abnormal_male_reproductive | 4.11496338 |
| 3 | MP0001929_abnormal_gametogenesis | 3.98497017 |
| 4 | MP0008004_abnormal_stomach_pH | 3.17450182 |
| 5 | MP0003718_maternal_effect | 2.96312912 |
| 6 | MP0009697_abnormal_copulation | 2.95083489 |
| 7 | MP0005377_hearing/vestibular/ear_phenot | 2.76718910 |
| 8 | MP0003878_abnormal_ear_physiology | 2.76718910 |
| 9 | MP0002210_abnormal_sex_determination | 2.59114808 |
| 10 | MP0005670_abnormal_white_adipose | 2.53667424 |
| 11 | MP0005647_abnormal_sex_gland | 2.47674582 |
| 12 | MP0002161_abnormal_fertility/fecundity | 2.29014445 |
| 13 | MP0003806_abnormal_nucleotide_metabolis | 2.17598881 |
| 14 | MP0001145_abnormal_male_reproductive | 2.16819187 |
| 15 | MP0002160_abnormal_reproductive_system | 2.16596077 |
| 16 | MP0003646_muscle_fatigue | 2.13252701 |
| 17 | MP0000653_abnormal_sex_gland | 2.13109472 |
| 18 | MP0008058_abnormal_DNA_repair | 2.01455358 |
| 19 | MP0003315_abnormal_perineum_morphology | 1.99259330 |
| 20 | MP0002132_abnormal_respiratory_system | 1.89856644 |
| 21 | MP0008995_early_reproductive_senescence | 1.86638357 |
| 22 | MP0002736_abnormal_nociception_after | 1.75663788 |
| 23 | MP0005451_abnormal_body_composition | 1.74649569 |
| 24 | MP0002822_catalepsy | 1.74152308 |
| 25 | MP0008877_abnormal_DNA_methylation | 1.69509901 |
| 26 | MP0004147_increased_porphyrin_level | 1.56713234 |
| 27 | MP0005360_urolithiasis | 1.54306451 |
| 28 | MP0003693_abnormal_embryo_hatching | 1.52878852 |
| 29 | MP0001968_abnormal_touch/_nociception | 1.51097309 |
| 30 | MP0003879_abnormal_hair_cell | 1.44889648 |
| 31 | MP0005551_abnormal_eye_electrophysiolog | 1.41290327 |
| 32 | MP0000372_irregular_coat_pigmentation | 1.39557842 |
| 33 | MP0001501_abnormal_sleep_pattern | 1.35991887 |
| 34 | MP0010368_abnormal_lymphatic_system | 1.34650592 |
| 35 | MP0005395_other_phenotype | 1.23158666 |
| 36 | MP0003136_yellow_coat_color | 1.21371972 |
| 37 | MP0001485_abnormal_pinna_reflex | 1.21125725 |
| 38 | MP0001664_abnormal_digestion | 1.14380880 |
| 39 | MP0010386_abnormal_urinary_bladder | 1.14187489 |
| 40 | MP0002102_abnormal_ear_morphology | 1.11456304 |
| 41 | MP0010094_abnormal_chromosome_stability | 1.11103436 |
| 42 | MP0001905_abnormal_dopamine_level | 1.10173329 |
| 43 | MP0006035_abnormal_mitochondrial_morpho | 1.09906964 |
| 44 | MP0006036_abnormal_mitochondrial_physio | 1.08663567 |
| 45 | MP0003950_abnormal_plasma_membrane | 1.06744960 |
| 46 | MP0003699_abnormal_female_reproductive | 1.05329660 |
| 47 | MP0001873_stomach_inflammation | 1.01374224 |
| 48 | MP0001984_abnormal_olfaction | 1.01083457 |
| 49 | MP0004084_abnormal_cardiac_muscle | 1.01060109 |
| 50 | MP0005058_abnormal_lysosome_morphology | 1.00560277 |
| 51 | MP0001963_abnormal_hearing_physiology | 0.98919005 |
| 52 | MP0001764_abnormal_homeostasis | 0.98754316 |
| 53 | MP0006276_abnormal_autonomic_nervous | 0.98652017 |
| 54 | MP0003252_abnormal_bile_duct | 0.95395255 |
| 55 | MP0004036_abnormal_muscle_relaxation | 0.95185942 |
| 56 | MP0002928_abnormal_bile_duct | 0.94558861 |
| 57 | MP0002735_abnormal_chemical_nociception | 0.92909393 |
| 58 | MP0001188_hyperpigmentation | 0.92245602 |
| 59 | MP0005389_reproductive_system_phenotype | 0.91404363 |
| 60 | MP0002138_abnormal_hepatobiliary_system | 0.90400163 |
| 61 | MP0000230_abnormal_systemic_arterial | 0.90064972 |
| 62 | MP0003183_abnormal_peptide_metabolism | 0.89718201 |
| 63 | MP0003077_abnormal_cell_cycle | 0.88737011 |
| 64 | MP0001666_abnormal_nutrient_absorption | 0.87806149 |
| 65 | MP0003786_premature_aging | 0.87636596 |
| 66 | MP0004957_abnormal_blastocyst_morpholog | 0.86733298 |
| 67 | MP0002272_abnormal_nervous_system | 0.85344693 |
| 68 | MP0001661_extended_life_span | 0.85044702 |
| 69 | MP0001119_abnormal_female_reproductive | 0.84625431 |
| 70 | MP0000470_abnormal_stomach_morphology | 0.83722049 |
| 71 | MP0005394_taste/olfaction_phenotype | 0.81326610 |
| 72 | MP0005499_abnormal_olfactory_system | 0.81326610 |
| 73 | MP0000465_gastrointestinal_hemorrhage | 0.81281914 |
| 74 | MP0003111_abnormal_nucleus_morphology | 0.80207003 |
| 75 | MP0004233_abnormal_muscle_weight | 0.78428019 |
| 76 | MP0005636_abnormal_mineral_homeostasis | 0.76309138 |
| 77 | MP0003936_abnormal_reproductive_system | 0.76027274 |
| 78 | MP0001486_abnormal_startle_reflex | 0.74768969 |
| 79 | MP0003045_fibrosis | 0.74103404 |
| 80 | MP0002229_neurodegeneration | 0.73903343 |
| 81 | MP0003656_abnormal_erythrocyte_physiolo | 0.72683903 |
| 82 | MP0002733_abnormal_thermal_nociception | 0.72385081 |
| 83 | MP0005174_abnormal_tail_pigmentation | 0.71605324 |
| 84 | MP0000678_abnormal_parathyroid_gland | 0.71424948 |
| 85 | MP0008770_decreased_survivor_rate | 0.70630699 |
| 86 | MP0004085_abnormal_heartbeat | 0.70219832 |
| 87 | MP0001765_abnormal_ion_homeostasis | 0.68679066 |
| 88 | MP0005253_abnormal_eye_physiology | 0.67364979 |
| 89 | MP0004142_abnormal_muscle_tone | 0.66130930 |
| 90 | MP0002127_abnormal_cardiovascular_syste | 0.63900312 |
| 91 | MP0009745_abnormal_behavioral_response | 0.63213259 |
| 92 | MP0005397_hematopoietic_system_phenotyp | 0.62418561 |
| 93 | MP0001545_abnormal_hematopoietic_system | 0.62418561 |
| 94 | MP0002557_abnormal_social/conspecific_i | 0.61489039 |
| 95 | MP0008057_abnormal_DNA_replication | 0.60326783 |
| 96 | MP0001348_abnormal_lacrimal_gland | 0.60216574 |
| 97 | MP0000631_abnormal_neuroendocrine_gland | 0.60200661 |
| 98 | MP0000538_abnormal_urinary_bladder | 0.57037587 |
| 99 | MP0005646_abnormal_pituitary_gland | 0.56420718 |
| 100 | MP0009046_muscle_twitch | 0.55947373 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.09646695 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 6.09646695 |
| 3 | Abnormal ciliary motility (HP:0012262) | 5.33573752 |
| 4 | Abnormal respiratory motile cilium physiology (HP:0012261) | 5.17045253 |
| 5 | Tubulointerstitial nephritis (HP:0001970) | 5.06160263 |
| 6 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.88227649 |
| 7 | Resting tremor (HP:0002322) | 4.76457672 |
| 8 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.72279791 |
| 9 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.72279791 |
| 10 | Infertility (HP:0000789) | 4.52602467 |
| 11 | Sex reversal (HP:0012245) | 4.03314860 |
| 12 | Abnormal sex determination (HP:0012244) | 4.03314860 |
| 13 | Gonadal dysgenesis (HP:0000133) | 3.94548530 |
| 14 | Abnormality of macular pigmentation (HP:0008002) | 3.91440409 |
| 15 | Attenuation of retinal blood vessels (HP:0007843) | 3.58331029 |
| 16 | Severe visual impairment (HP:0001141) | 3.54003816 |
| 17 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.47993575 |
| 18 | Male pseudohermaphroditism (HP:0000037) | 3.44556809 |
| 19 | Hypoplasia of the uterus (HP:0000013) | 3.22705854 |
| 20 | Abnormality of dental color (HP:0011073) | 3.22162408 |
| 21 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.20305157 |
| 22 | Chronic hepatic failure (HP:0100626) | 3.08704788 |
| 23 | Postural instability (HP:0002172) | 3.08621898 |
| 24 | Retinal dysplasia (HP:0007973) | 2.97486838 |
| 25 | Cerebellar dysplasia (HP:0007033) | 2.95848894 |
| 26 | Rhinitis (HP:0012384) | 2.91339458 |
| 27 | Congenital sensorineural hearing impairment (HP:0008527) | 2.91291549 |
| 28 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.87266087 |
| 29 | Reduced antithrombin III activity (HP:0001976) | 2.80485670 |
| 30 | Hyperglycinuria (HP:0003108) | 2.75141174 |
| 31 | Type II lissencephaly (HP:0007260) | 2.74121691 |
| 32 | Male infertility (HP:0003251) | 2.67241446 |
| 33 | Aplasia/hypoplasia of the uterus (HP:0008684) | 2.65977889 |
| 34 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 2.63436037 |
| 35 | Thoracic kyphosis (HP:0002942) | 2.61522964 |
| 36 | Febrile seizures (HP:0002373) | 2.60270211 |
| 37 | Impulsivity (HP:0100710) | 2.54584462 |
| 38 | Bronchiectasis (HP:0002110) | 2.47477096 |
| 39 | Hyperkalemia (HP:0002153) | 2.43931237 |
| 40 | Abnormal spermatogenesis (HP:0008669) | 2.42862809 |
| 41 | Azoospermia (HP:0000027) | 2.39244577 |
| 42 | Nephronophthisis (HP:0000090) | 2.37793140 |
| 43 | Progressive cerebellar ataxia (HP:0002073) | 2.36312397 |
| 44 | Hyperglycinemia (HP:0002154) | 2.34701963 |
| 45 | Facial diplegia (HP:0001349) | 2.29099176 |
| 46 | Nasal polyposis (HP:0100582) | 2.21966930 |
| 47 | Gonadotropin excess (HP:0000837) | 2.20706237 |
| 48 | Protruding tongue (HP:0010808) | 2.20205229 |
| 49 | Tubulointerstitial abnormality (HP:0001969) | 2.19706435 |
| 50 | Generalized aminoaciduria (HP:0002909) | 2.13686709 |
| 51 | Decreased central vision (HP:0007663) | 2.03802453 |
| 52 | Retinal atrophy (HP:0001105) | 2.02244756 |
| 53 | Chronic bronchitis (HP:0004469) | 2.00690578 |
| 54 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 1.99399637 |
| 55 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 1.98951302 |
| 56 | Hypoplasia of the fovea (HP:0007750) | 1.98951302 |
| 57 | Abnormal protein glycosylation (HP:0012346) | 1.93872768 |
| 58 | Abnormal glycosylation (HP:0012345) | 1.93872768 |
| 59 | Abnormal isoelectric focusing of serum transferrin (HP:0003160) | 1.93872768 |
| 60 | Abnormal protein N-linked glycosylation (HP:0012347) | 1.93872768 |
| 61 | Abnormality of the lumbar spine (HP:0100712) | 1.90818451 |
| 62 | Abnormality of the heme biosynthetic pathway (HP:0010472) | 1.90552031 |
| 63 | Abnormality of the fovea (HP:0000493) | 1.90184401 |
| 64 | Abnormality of the thoracic spine (HP:0100711) | 1.89714120 |
| 65 | Degeneration of the lateral corticospinal tracts (HP:0002314) | 1.87964220 |
| 66 | Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) | 1.87964220 |
| 67 | Abnormality of the corticospinal tract (HP:0002492) | 1.87231970 |
| 68 | Urinary urgency (HP:0000012) | 1.86724187 |
| 69 | Peripheral hypomyelination (HP:0007182) | 1.85471557 |
| 70 | Inability to walk (HP:0002540) | 1.84916718 |
| 71 | Absent thumb (HP:0009777) | 1.84519817 |
| 72 | Hand muscle atrophy (HP:0009130) | 1.83053889 |
| 73 | Upper limb muscle weakness (HP:0003484) | 1.79513872 |
| 74 | Bell-shaped thorax (HP:0001591) | 1.79377071 |
| 75 | Occipital encephalocele (HP:0002085) | 1.77168283 |
| 76 | Supernumerary spleens (HP:0009799) | 1.76666411 |
| 77 | Abnormal activity of mitochondrial respiratory chain (HP:0011922) | 1.76644287 |
| 78 | Decreased activity of mitochondrial respiratory chain (HP:0008972) | 1.76644287 |
| 79 | Abnormality of serine family amino acid metabolism (HP:0010894) | 1.76132103 |
| 80 | Abnormality of glycine metabolism (HP:0010895) | 1.76132103 |
| 81 | Abnormality of DNA repair (HP:0003254) | 1.75535981 |
| 82 | Fibular aplasia (HP:0002990) | 1.73862885 |
| 83 | Colitis (HP:0002583) | 1.73183119 |
| 84 | Abnormal drinking behavior (HP:0030082) | 1.72880439 |
| 85 | Polydipsia (HP:0001959) | 1.72880439 |
| 86 | Type II diabetes mellitus (HP:0005978) | 1.71730172 |
| 87 | Abnormal gallbladder physiology (HP:0012438) | 1.70742368 |
| 88 | Cholecystitis (HP:0001082) | 1.70742368 |
| 89 | Abnormality of the renal medulla (HP:0100957) | 1.69684230 |
| 90 | Rhabdomyolysis (HP:0003201) | 1.68970275 |
| 91 | Cystic liver disease (HP:0006706) | 1.68133806 |
| 92 | Pancreatic cysts (HP:0001737) | 1.67702669 |
| 93 | Abnormality of the ileum (HP:0001549) | 1.66999212 |
| 94 | Photophobia (HP:0000613) | 1.66428929 |
| 95 | Ketosis (HP:0001946) | 1.66226904 |
| 96 | Abnormality of the costochondral junction (HP:0000919) | 1.65911697 |
| 97 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.63327842 |
| 98 | Hypergonadotropic hypogonadism (HP:0000815) | 1.62995239 |
| 99 | Clumsiness (HP:0002312) | 1.62855862 |
| 100 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.62701270 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PINK1 | 6.41000443 |
| 2 | ZAK | 4.27181139 |
| 3 | PLK4 | 3.58084344 |
| 4 | MARK3 | 3.43641140 |
| 5 | TLK1 | 2.92830644 |
| 6 | SCYL2 | 2.63156929 |
| 7 | WNK4 | 2.34298496 |
| 8 | NEK2 | 2.32581744 |
| 9 | FRK | 2.30933053 |
| 10 | TESK2 | 2.25509179 |
| 11 | MAP3K9 | 2.21661198 |
| 12 | ARAF | 2.20516428 |
| 13 | CCNB1 | 2.09826063 |
| 14 | DYRK3 | 2.07404094 |
| 15 | RPS6KA5 | 1.99575086 |
| 16 | TESK1 | 1.92843201 |
| 17 | STK38 | 1.81193855 |
| 18 | STK38L | 1.74760047 |
| 19 | PIK3CG | 1.70170282 |
| 20 | MYLK | 1.64286920 |
| 21 | MAP3K13 | 1.61591540 |
| 22 | MST1R | 1.49940988 |
| 23 | STK39 | 1.49918858 |
| 24 | AKT3 | 1.42611204 |
| 25 | MAP4K2 | 1.42453182 |
| 26 | ACVR1B | 1.37638895 |
| 27 | BRAF | 1.33093388 |
| 28 | MATK | 1.32421840 |
| 29 | PNCK | 1.31475040 |
| 30 | WNK1 | 1.26936935 |
| 31 | EIF2AK3 | 1.24755568 |
| 32 | BCKDK | 1.14628470 |
| 33 | RAF1 | 1.14025578 |
| 34 | INSRR | 1.09089932 |
| 35 | PRKG2 | 1.02276775 |
| 36 | KSR2 | 0.99717602 |
| 37 | MAPK15 | 0.94140576 |
| 38 | LATS1 | 0.88375463 |
| 39 | EIF2AK1 | 0.87151557 |
| 40 | STK16 | 0.85397858 |
| 41 | PTK2B | 0.84138392 |
| 42 | NEK6 | 0.82132530 |
| 43 | SRPK1 | 0.81590640 |
| 44 | TTK | 0.81043847 |
| 45 | PRKCQ | 0.76734528 |
| 46 | CDK4 | 0.75974727 |
| 47 | VRK1 | 0.71043661 |
| 48 | CDK3 | 0.70203332 |
| 49 | EPHA4 | 0.69935701 |
| 50 | RIPK4 | 0.69071655 |
| 51 | BMPR1B | 0.67594210 |
| 52 | DDR2 | 0.67140248 |
| 53 | BLK | 0.64865909 |
| 54 | PRKD3 | 0.58719820 |
| 55 | ATM | 0.57758768 |
| 56 | MAP3K2 | 0.54776085 |
| 57 | PLK1 | 0.54281343 |
| 58 | STK3 | 0.53224104 |
| 59 | PKN1 | 0.53217825 |
| 60 | MUSK | 0.49973624 |
| 61 | CASK | 0.48761596 |
| 62 | CDK7 | 0.48582712 |
| 63 | KIT | 0.48267474 |
| 64 | ADRBK2 | 0.47268097 |
| 65 | BTK | 0.46607997 |
| 66 | PRKG1 | 0.46539233 |
| 67 | MAP3K1 | 0.44532620 |
| 68 | AURKA | 0.44478982 |
| 69 | SIK2 | 0.44424953 |
| 70 | GRK1 | 0.44236926 |
| 71 | NME2 | 0.43946448 |
| 72 | PDPK1 | 0.41613363 |
| 73 | CAMK1G | 0.41476149 |
| 74 | ATR | 0.41452362 |
| 75 | PDK1 | 0.41155595 |
| 76 | PAK2 | 0.40788464 |
| 77 | PASK | 0.40402615 |
| 78 | PAK1 | 0.40122908 |
| 79 | TEC | 0.39400459 |
| 80 | PLK2 | 0.35127184 |
| 81 | WEE1 | 0.34013623 |
| 82 | MAPK11 | 0.33612196 |
| 83 | OBSCN | 0.32957728 |
| 84 | CHEK1 | 0.32599201 |
| 85 | MAP3K8 | 0.31692703 |
| 86 | CDK14 | 0.31061488 |
| 87 | PIM1 | 0.30944977 |
| 88 | MAPK13 | 0.29845828 |
| 89 | RPS6KB1 | 0.29382020 |
| 90 | KDR | 0.29278079 |
| 91 | NEK1 | 0.27964271 |
| 92 | BRSK1 | 0.27576295 |
| 93 | CHEK2 | 0.27153536 |
| 94 | PIM2 | 0.25963207 |
| 95 | CDK1 | 0.25698123 |
| 96 | BRSK2 | 0.25320563 |
| 97 | AURKB | 0.24538148 |
| 98 | SGK223 | 0.24109041 |
| 99 | SGK494 | 0.24109041 |
| 100 | PRKACB | 0.24069848 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.10758017 |
| 2 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 3.80428478 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.24633220 |
| 4 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 2.92809317 |
| 5 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.66842531 |
| 6 | Basal transcription factors_Homo sapiens_hsa03022 | 2.54716464 |
| 7 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.46553008 |
| 8 | Arginine biosynthesis_Homo sapiens_hsa00220 | 2.24589581 |
| 9 | Gap junction_Homo sapiens_hsa04540 | 2.15847831 |
| 10 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.01540699 |
| 11 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.96646451 |
| 12 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.95737522 |
| 13 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.87294981 |
| 14 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.85249936 |
| 15 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.83301041 |
| 16 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.78615651 |
| 17 | Base excision repair_Homo sapiens_hsa03410 | 1.68288465 |
| 18 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.67576012 |
| 19 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.62570888 |
| 20 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.55837212 |
| 21 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.55163386 |
| 22 | RNA transport_Homo sapiens_hsa03013 | 1.54128514 |
| 23 | Taste transduction_Homo sapiens_hsa04742 | 1.53985173 |
| 24 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.52893827 |
| 25 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.52853600 |
| 26 | Nicotine addiction_Homo sapiens_hsa05033 | 1.47179669 |
| 27 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.46631967 |
| 28 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.40202988 |
| 29 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 1.33818261 |
| 30 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.30407710 |
| 31 | ABC transporters_Homo sapiens_hsa02010 | 1.28831820 |
| 32 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.25762892 |
| 33 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.18719982 |
| 34 | Apoptosis_Homo sapiens_hsa04210 | 1.17638501 |
| 35 | Alcoholism_Homo sapiens_hsa05034 | 1.15484400 |
| 36 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.07504074 |
| 37 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.01122416 |
| 38 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.98573200 |
| 39 | Purine metabolism_Homo sapiens_hsa00230 | 0.97573862 |
| 40 | Homologous recombination_Homo sapiens_hsa03440 | 0.97022371 |
| 41 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.96886655 |
| 42 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.92698352 |
| 43 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.91544134 |
| 44 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.91406350 |
| 45 | RNA degradation_Homo sapiens_hsa03018 | 0.88403980 |
| 46 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.87614793 |
| 47 | Retinol metabolism_Homo sapiens_hsa00830 | 0.85595997 |
| 48 | Mismatch repair_Homo sapiens_hsa03430 | 0.82636350 |
| 49 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.82179001 |
| 50 | Peroxisome_Homo sapiens_hsa04146 | 0.81587410 |
| 51 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.79920757 |
| 52 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.79641913 |
| 53 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.79515610 |
| 54 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.75763111 |
| 55 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.75057604 |
| 56 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.74461195 |
| 57 | Metabolic pathways_Homo sapiens_hsa01100 | 0.73423073 |
| 58 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.72899969 |
| 59 | Phototransduction_Homo sapiens_hsa04744 | 0.72782377 |
| 60 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.72280992 |
| 61 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.71445291 |
| 62 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.71202679 |
| 63 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.69911387 |
| 64 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.69458807 |
| 65 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.69199392 |
| 66 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.69038515 |
| 67 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.68857480 |
| 68 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.68408495 |
| 69 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.67880203 |
| 70 | Phagosome_Homo sapiens_hsa04145 | 0.66816016 |
| 71 | Sulfur relay system_Homo sapiens_hsa04122 | 0.65433119 |
| 72 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.64176421 |
| 73 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.63606875 |
| 74 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.61127839 |
| 75 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.60891444 |
| 76 | DNA replication_Homo sapiens_hsa03030 | 0.60172349 |
| 77 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.58659427 |
| 78 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.57497734 |
| 79 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.57161075 |
| 80 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.54424961 |
| 81 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.51687949 |
| 82 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.49265911 |
| 83 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.48730542 |
| 84 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 0.46773435 |
| 85 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.46301911 |
| 86 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.46036911 |
| 87 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.44631443 |
| 88 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 0.43611295 |
| 89 | Circadian entrainment_Homo sapiens_hsa04713 | 0.42028169 |
| 90 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.40881343 |
| 91 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.40039229 |
| 92 | Salivary secretion_Homo sapiens_hsa04970 | 0.39675693 |
| 93 | Morphine addiction_Homo sapiens_hsa05032 | 0.38953737 |
| 94 | Circadian rhythm_Homo sapiens_hsa04710 | 0.38085648 |
| 95 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.37638817 |
| 96 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.36817416 |
| 97 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.36364658 |
| 98 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.36095055 |
| 99 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.36061533 |
| 100 | Cell cycle_Homo sapiens_hsa04110 | 0.34575242 |

