

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | spermatid development (GO:0007286) | 9.78339919 |
| 2 | fusion of sperm to egg plasma membrane (GO:0007342) | 8.87525079 |
| 3 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 8.44233681 |
| 4 | multicellular organism reproduction (GO:0032504) | 8.39323970 |
| 5 | binding of sperm to zona pellucida (GO:0007339) | 8.39130657 |
| 6 | sperm-egg recognition (GO:0035036) | 7.81621071 |
| 7 | axonemal dynein complex assembly (GO:0070286) | 7.56394646 |
| 8 | male meiosis (GO:0007140) | 7.45937824 |
| 9 | motile cilium assembly (GO:0044458) | 7.30630677 |
| 10 | reproduction (GO:0000003) | 6.83961942 |
| 11 | plasma membrane fusion (GO:0045026) | 6.82369916 |
| 12 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 6.81030095 |
| 13 | cell-cell recognition (GO:0009988) | 6.65763809 |
| 14 | cilium or flagellum-dependent cell motility (GO:0001539) | 6.48216960 |
| 15 | positive regulation of catecholamine secretion (GO:0033605) | 6.25133839 |
| 16 | sperm capacitation (GO:0048240) | 6.24010358 |
| 17 | nucleosome disassembly (GO:0006337) | 6.23050123 |
| 18 | protein-DNA complex disassembly (GO:0032986) | 6.23050123 |
| 19 | calcium ion-dependent exocytosis (GO:0017156) | 6.15979693 |
| 20 | single fertilization (GO:0007338) | 6.02473962 |
| 21 | microtubule depolymerization (GO:0007019) | 6.02312108 |
| 22 | chromosome condensation (GO:0030261) | 6.00033360 |
| 23 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.98442007 |
| 24 | protein targeting to Golgi (GO:0000042) | 5.88722077 |
| 25 | epithelial cilium movement (GO:0003351) | 5.88539017 |
| 26 | DNA packaging (GO:0006323) | 5.70586092 |
| 27 | negative regulation of inclusion body assembly (GO:0090084) | 5.69433257 |
| 28 | germ cell development (GO:0007281) | 5.67834795 |
| 29 | establishment of protein localization to Golgi (GO:0072600) | 5.61688371 |
| 30 | organic cation transport (GO:0015695) | 5.61346091 |
| 31 | spermatid nucleus differentiation (GO:0007289) | 5.56650477 |
| 32 | polyamine biosynthetic process (GO:0006596) | 5.54410359 |
| 33 | protein polyglutamylation (GO:0018095) | 5.52270519 |
| 34 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.49962302 |
| 35 | spermatogenesis (GO:0007283) | 5.48940338 |
| 36 | male gamete generation (GO:0048232) | 5.46849516 |
| 37 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.43097598 |
| 38 | gamete generation (GO:0007276) | 5.05394968 |
| 39 | rRNA methylation (GO:0031167) | 5.05107314 |
| 40 | microtubule polymerization or depolymerization (GO:0031109) | 5.02580743 |
| 41 | cilium movement (GO:0003341) | 4.93331859 |
| 42 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.91603341 |
| 43 | centriole assembly (GO:0098534) | 4.90769879 |
| 44 | single strand break repair (GO:0000012) | 4.75569161 |
| 45 | fertilization (GO:0009566) | 4.71558474 |
| 46 | ventricular system development (GO:0021591) | 4.47172119 |
| 47 | response to acidic pH (GO:0010447) | 4.46419024 |
| 48 | male sex determination (GO:0030238) | 4.44551992 |
| 49 | coenzyme catabolic process (GO:0009109) | 4.43073480 |
| 50 | centriole replication (GO:0007099) | 4.34610961 |
| 51 | regulation of oxidative stress-induced neuron death (GO:1903203) | 4.28839468 |
| 52 | synapsis (GO:0007129) | 4.28489417 |
| 53 | potassium ion export (GO:0071435) | 4.23459035 |
| 54 | relaxation of smooth muscle (GO:0044557) | 4.22076376 |
| 55 | protein localization to Golgi apparatus (GO:0034067) | 4.15580138 |
| 56 | microtubule severing (GO:0051013) | 4.13183660 |
| 57 | rRNA modification (GO:0000154) | 4.12906657 |
| 58 | response to pheromone (GO:0019236) | 4.12117469 |
| 59 | multicellular organismal reproductive process (GO:0048609) | 4.08267834 |
| 60 | histone exchange (GO:0043486) | 3.92091469 |
| 61 | acrosome assembly (GO:0001675) | 3.86082313 |
| 62 | regulation of oxidative phosphorylation (GO:0002082) | 3.86005143 |
| 63 | regulation of inclusion body assembly (GO:0090083) | 3.85313881 |
| 64 | regulation of cilium movement (GO:0003352) | 3.85180371 |
| 65 | Leydig cell differentiation (GO:0033327) | 3.85095089 |
| 66 | histone H3-K9 demethylation (GO:0033169) | 3.79046639 |
| 67 | mitochondrion degradation (GO:0000422) | 3.76073110 |
| 68 | activation of protein kinase B activity (GO:0032148) | 3.71472414 |
| 69 | cellular biogenic amine biosynthetic process (GO:0042401) | 3.68860667 |
| 70 | cGMP-mediated signaling (GO:0019934) | 3.66412929 |
| 71 | sexual reproduction (GO:0019953) | 3.65556981 |
| 72 | positive regulation of Rab GTPase activity (GO:0032851) | 3.65099799 |
| 73 | regulation of Rab GTPase activity (GO:0032313) | 3.65099799 |
| 74 | positive regulation of glycolytic process (GO:0045821) | 3.63295563 |
| 75 | amine biosynthetic process (GO:0009309) | 3.59104141 |
| 76 | cellular response to pH (GO:0071467) | 3.58012943 |
| 77 | oogenesis (GO:0048477) | 3.52386989 |
| 78 | protein polymerization (GO:0051258) | 3.44167861 |
| 79 | regulation of dopamine secretion (GO:0014059) | 3.40935746 |
| 80 | seminiferous tubule development (GO:0072520) | 3.40609455 |
| 81 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 3.39743719 |
| 82 | regulation of centriole replication (GO:0046599) | 3.38714815 |
| 83 | meiotic nuclear division (GO:0007126) | 3.32290529 |
| 84 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.31246942 |
| 85 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.27443682 |
| 86 | piRNA metabolic process (GO:0034587) | 3.26932082 |
| 87 | cell recognition (GO:0008037) | 3.26756785 |
| 88 | regulation of ARF GTPase activity (GO:0032312) | 3.25791298 |
| 89 | regulation of phosphatase activity (GO:0010921) | 3.24297917 |
| 90 | chromosome organization involved in meiosis (GO:0070192) | 3.23870978 |
| 91 | negative regulation of hydrogen peroxide-induced cell death (GO:1903206) | 3.20503617 |
| 92 | glutamine family amino acid catabolic process (GO:0009065) | 3.20241744 |
| 93 | cellular ketone body metabolic process (GO:0046950) | 3.15442324 |
| 94 | polyamine metabolic process (GO:0006595) | 3.01322780 |
| 95 | nucleus organization (GO:0006997) | 3.01062621 |
| 96 | receptor recycling (GO:0001881) | 2.94952300 |
| 97 | cell wall macromolecule metabolic process (GO:0044036) | 2.94296832 |
| 98 | regulation of autophagic vacuole assembly (GO:2000785) | 2.91328137 |
| 99 | acrosome reaction (GO:0007340) | 12.0901220 |
| 100 | sperm motility (GO:0030317) | 12.0622360 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 8.07717408 |
| 2 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 6.45816679 |
| 3 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 3.06276933 |
| 4 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.00168435 |
| 5 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.89375196 |
| 6 | IGF1R_20145208_ChIP-Seq_DFB_Human | 2.83677378 |
| 7 | FUS_26573619_Chip-Seq_HEK293_Human | 2.55396413 |
| 8 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.53971022 |
| 9 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.53971022 |
| 10 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.52226822 |
| 11 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.52195611 |
| 12 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.29464715 |
| 13 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.23715656 |
| 14 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.17024933 |
| 15 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.17024933 |
| 16 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 2.13015633 |
| 17 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 2.11150690 |
| 18 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.94721925 |
| 19 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.91830237 |
| 20 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.86888069 |
| 21 | ERA_21632823_ChIP-Seq_H3396_Human | 1.81433036 |
| 22 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.73845429 |
| 23 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.72646936 |
| 24 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.72578277 |
| 25 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.71963095 |
| 26 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.71839927 |
| 27 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.70488639 |
| 28 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.69383746 |
| 29 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.61506389 |
| 30 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.57310504 |
| 31 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.56485049 |
| 32 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.54777806 |
| 33 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.52065276 |
| 34 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.50210745 |
| 35 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.49509118 |
| 36 | TBL1_22424771_ChIP-Seq_293T_Human | 1.48185356 |
| 37 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.47118130 |
| 38 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.44481396 |
| 39 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.44320221 |
| 40 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.43453589 |
| 41 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.43103126 |
| 42 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.41664443 |
| 43 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.41618691 |
| 44 | P300_19829295_ChIP-Seq_ESCs_Human | 1.41555867 |
| 45 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.40586425 |
| 46 | AR_25329375_ChIP-Seq_VCAP_Human | 1.31265591 |
| 47 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.31241429 |
| 48 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.30169324 |
| 49 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.28170854 |
| 50 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.23074940 |
| 51 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.23047159 |
| 52 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.22628959 |
| 53 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.19268266 |
| 54 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.18796608 |
| 55 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.15967835 |
| 56 | NFYB_21822215_ChIP-Seq_K562_Human | 1.15546271 |
| 57 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.13951526 |
| 58 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.13834991 |
| 59 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.13673696 |
| 60 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.13229105 |
| 61 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.12572628 |
| 62 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.12572628 |
| 63 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.12532934 |
| 64 | VDR_22108803_ChIP-Seq_LS180_Human | 1.12237594 |
| 65 | P300_27268052_Chip-Seq_Bcells_Human | 1.11769592 |
| 66 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.11204602 |
| 67 | P68_20966046_ChIP-Seq_HELA_Human | 1.10544829 |
| 68 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.10286458 |
| 69 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.08742630 |
| 70 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.07826347 |
| 71 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 1.07443582 |
| 72 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.07425935 |
| 73 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.06098984 |
| 74 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.05854103 |
| 75 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.05821345 |
| 76 | STAT3_23295773_ChIP-Seq_U87_Human | 1.05378528 |
| 77 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.05290630 |
| 78 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.04767753 |
| 79 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.04245039 |
| 80 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.02501002 |
| 81 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.01582891 |
| 82 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.01183397 |
| 83 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.99486503 |
| 84 | E2F1_20622854_ChIP-Seq_HELA_Human | 0.99376144 |
| 85 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.99133296 |
| 86 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 0.98878836 |
| 87 | ZNF274_21170338_ChIP-Seq_K562_Hela | 0.98224668 |
| 88 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 0.97198175 |
| 89 | DROSHA_22980978_ChIP-Seq_HELA_Human | 0.97153722 |
| 90 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 0.96506457 |
| 91 | GF1_26923725_Chip-Seq_HPCs_Mouse | 0.95067154 |
| 92 | NFYA_21822215_ChIP-Seq_K562_Human | 0.93905194 |
| 93 | MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human | 0.93833012 |
| 94 | BCOR_27268052_Chip-Seq_Bcells_Human | 0.92223523 |
| 95 | CJUN_26792858_Chip-Seq_BT549_Human | 0.90981996 |
| 96 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 0.90791765 |
| 97 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 0.90624636 |
| 98 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 0.90159579 |
| 99 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 0.89889762 |
| 100 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.89449337 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003315_abnormal_perineum_morphology | 4.45851502 |
| 2 | MP0003698_abnormal_male_reproductive | 4.38324299 |
| 3 | MP0008004_abnormal_stomach_pH | 4.25955364 |
| 4 | MP0001929_abnormal_gametogenesis | 3.88269184 |
| 5 | MP0005377_hearing/vestibular/ear_phenot | 3.57727364 |
| 6 | MP0003878_abnormal_ear_physiology | 3.57727364 |
| 7 | MP0005360_urolithiasis | 2.59144994 |
| 8 | MP0002132_abnormal_respiratory_system | 2.52588069 |
| 9 | MP0005670_abnormal_white_adipose | 2.39042883 |
| 10 | MP0002161_abnormal_fertility/fecundity | 2.34320959 |
| 11 | MP0002160_abnormal_reproductive_system | 2.33921848 |
| 12 | MP0001984_abnormal_olfaction | 2.05120560 |
| 13 | MP0005410_abnormal_fertilization | 12.4801645 |
| 14 | MP0002210_abnormal_sex_determination | 1.94389591 |
| 15 | MP0003718_maternal_effect | 1.90788172 |
| 16 | MP0003045_fibrosis | 1.86204987 |
| 17 | MP0001145_abnormal_male_reproductive | 1.69665791 |
| 18 | MP0001348_abnormal_lacrimal_gland | 1.63286037 |
| 19 | MP0005647_abnormal_sex_gland | 1.62697586 |
| 20 | MP0000653_abnormal_sex_gland | 1.54358650 |
| 21 | MP0000678_abnormal_parathyroid_gland | 1.53080772 |
| 22 | MP0010386_abnormal_urinary_bladder | 1.48225963 |
| 23 | MP0005394_taste/olfaction_phenotype | 1.40402488 |
| 24 | MP0005499_abnormal_olfactory_system | 1.40402488 |
| 25 | MP0003136_yellow_coat_color | 1.36349893 |
| 26 | MP0001905_abnormal_dopamine_level | 1.34478131 |
| 27 | MP0009697_abnormal_copulation | 1.34202693 |
| 28 | MP0008995_early_reproductive_senescence | 1.33159597 |
| 29 | MP0001485_abnormal_pinna_reflex | 1.32911307 |
| 30 | MP0003879_abnormal_hair_cell | 1.27936997 |
| 31 | MP0010368_abnormal_lymphatic_system | 1.24953257 |
| 32 | MP0001664_abnormal_digestion | 1.21721976 |
| 33 | MP0005058_abnormal_lysosome_morphology | 1.20890751 |
| 34 | MP0005248_abnormal_Harderian_gland | 1.19973793 |
| 35 | MP0005395_other_phenotype | 1.19054509 |
| 36 | MP0002249_abnormal_larynx_morphology | 1.18160003 |
| 37 | MP0002127_abnormal_cardiovascular_syste | 1.14138969 |
| 38 | MP0001486_abnormal_startle_reflex | 1.12340546 |
| 39 | MP0003646_muscle_fatigue | 1.09905827 |
| 40 | MP0000537_abnormal_urethra_morphology | 1.08374782 |
| 41 | MP0005389_reproductive_system_phenotype | 1.06780900 |
| 42 | MP0005451_abnormal_body_composition | 1.02292983 |
| 43 | MP0000538_abnormal_urinary_bladder | 1.01710057 |
| 44 | MP0001188_hyperpigmentation | 1.00099970 |
| 45 | MP0002282_abnormal_trachea_morphology | 0.99124802 |
| 46 | MP0005253_abnormal_eye_physiology | 0.95325912 |
| 47 | MP0004085_abnormal_heartbeat | 0.92583508 |
| 48 | MP0004859_abnormal_synaptic_plasticity | 0.89308450 |
| 49 | MP0001501_abnormal_sleep_pattern | 0.87248047 |
| 50 | MP0004084_abnormal_cardiac_muscle | 0.86627408 |
| 51 | MP0001963_abnormal_hearing_physiology | 0.85310836 |
| 52 | MP0006072_abnormal_retinal_apoptosis | 0.84409818 |
| 53 | MP0003632_abnormal_nervous_system | 0.84104752 |
| 54 | MP0005187_abnormal_penis_morphology | 0.83981858 |
| 55 | MP0004742_abnormal_vestibular_system | 0.82383874 |
| 56 | MP0002138_abnormal_hepatobiliary_system | 0.81600501 |
| 57 | MP0003936_abnormal_reproductive_system | 0.77770510 |
| 58 | MP0005379_endocrine/exocrine_gland_phen | 0.77498043 |
| 59 | MP0000026_abnormal_inner_ear | 0.75121832 |
| 60 | MP0003631_nervous_system_phenotype | 0.75120219 |
| 61 | MP0001968_abnormal_touch/_nociception | 0.72137486 |
| 62 | MP0002168_other_aberrant_phenotype | 0.71937300 |
| 63 | MP0004036_abnormal_muscle_relaxation | 0.71684050 |
| 64 | MP0001849_ear_inflammation | 0.70443169 |
| 65 | MP0005423_abnormal_somatic_nervous | 0.69606378 |
| 66 | MP0000470_abnormal_stomach_morphology | 0.69320373 |
| 67 | MP0000230_abnormal_systemic_arterial | 0.67645560 |
| 68 | MP0005551_abnormal_eye_electrophysiolog | 0.67030570 |
| 69 | MP0002822_catalepsy | 0.62524369 |
| 70 | MP0008789_abnormal_olfactory_epithelium | 0.60016964 |
| 71 | MP0009115_abnormal_fat_cell | 0.59623294 |
| 72 | MP0000534_abnormal_ureter_morphology | 0.58188520 |
| 73 | MP0002272_abnormal_nervous_system | 0.57017788 |
| 74 | MP0003633_abnormal_nervous_system | 0.56034084 |
| 75 | MP0005595_abnormal_vascular_smooth | 0.54992732 |
| 76 | MP0001765_abnormal_ion_homeostasis | 0.53854024 |
| 77 | MP0000049_abnormal_middle_ear | 0.53730666 |
| 78 | MP0002067_abnormal_sensory_capabilities | 0.53111200 |
| 79 | MP0005167_abnormal_blood-brain_barrier | 0.51792898 |
| 80 | MP0004782_abnormal_surfactant_physiolog | 0.51148906 |
| 81 | MP0001919_abnormal_reproductive_system | 0.51141706 |
| 82 | MP0005409_darkened_coat_color | 0.51093658 |
| 83 | MP0002229_neurodegeneration | 0.51073717 |
| 84 | MP0000681_abnormal_thyroid_gland | 0.50352743 |
| 85 | MP0001270_distended_abdomen | 0.50280284 |
| 86 | MP0005646_abnormal_pituitary_gland | 0.47965710 |
| 87 | MP0008877_abnormal_DNA_methylation | 0.47337891 |
| 88 | MP0001529_abnormal_vocalization | 0.45148119 |
| 89 | MP0006036_abnormal_mitochondrial_physio | 0.45074845 |
| 90 | MP0004484_altered_response_of | 0.45065794 |
| 91 | MP0005391_vision/eye_phenotype | 0.45050267 |
| 92 | MP0000343_altered_response_to | 0.43549946 |
| 93 | MP0000955_abnormal_spinal_cord | 0.43440016 |
| 94 | MP0002735_abnormal_chemical_nociception | 0.43411284 |
| 95 | MP0003011_delayed_dark_adaptation | 0.43218076 |
| 96 | MP0003635_abnormal_synaptic_transmissio | 0.42926242 |
| 97 | MP0000465_gastrointestinal_hemorrhage | 0.42456276 |
| 98 | MP0002572_abnormal_emotion/affect_behav | 0.40147176 |
| 99 | MP0002557_abnormal_social/conspecific_i | 0.39507398 |
| 100 | MP0005166_decreased_susceptibility_to | 0.39142422 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Resting tremor (HP:0002322) | 7.66097768 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 7.25217807 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 7.25217807 |
| 4 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 6.68568857 |
| 5 | Abnormal respiratory motile cilium physiology (HP:0012261) | 6.25900801 |
| 6 | Abnormal ciliary motility (HP:0012262) | 6.12202199 |
| 7 | Sex reversal (HP:0012245) | 5.74540960 |
| 8 | Abnormal sex determination (HP:0012244) | 5.74540960 |
| 9 | Infertility (HP:0000789) | 5.24848316 |
| 10 | Abnormal respiratory epithelium morphology (HP:0012253) | 5.18751181 |
| 11 | Abnormal respiratory motile cilium morphology (HP:0005938) | 5.18751181 |
| 12 | Hypoplasia of the uterus (HP:0000013) | 4.97490789 |
| 13 | Postural instability (HP:0002172) | 4.91895940 |
| 14 | Tubulointerstitial nephritis (HP:0001970) | 4.78875798 |
| 15 | Nasal polyposis (HP:0100582) | 4.60523366 |
| 16 | Chronic hepatic failure (HP:0100626) | 4.20162670 |
| 17 | Severe visual impairment (HP:0001141) | 4.04122536 |
| 18 | Gonadal dysgenesis (HP:0000133) | 3.96920862 |
| 19 | Abnormality of the nasal mucosa (HP:0000433) | 3.91536078 |
| 20 | Abnormality of the columella (HP:0009929) | 3.71729564 |
| 21 | Aplasia/hypoplasia of the uterus (HP:0008684) | 3.71293302 |
| 22 | Colitis (HP:0002583) | 3.61964069 |
| 23 | Rhinitis (HP:0012384) | 3.60038727 |
| 24 | Asymmetric septal hypertrophy (HP:0001670) | 3.43171588 |
| 25 | Male pseudohermaphroditism (HP:0000037) | 3.41665514 |
| 26 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.36829112 |
| 27 | Reduced antithrombin III activity (HP:0001976) | 3.32972343 |
| 28 | Abnormality of macular pigmentation (HP:0008002) | 3.31377371 |
| 29 | Cerebellar dysplasia (HP:0007033) | 3.28975968 |
| 30 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.18346685 |
| 31 | Germ cell neoplasia (HP:0100728) | 3.14295952 |
| 32 | Male infertility (HP:0003251) | 3.10434912 |
| 33 | Attenuation of retinal blood vessels (HP:0007843) | 3.06767533 |
| 34 | Chronic bronchitis (HP:0004469) | 2.94114818 |
| 35 | Ventricular fibrillation (HP:0001663) | 2.81522635 |
| 36 | Type II lissencephaly (HP:0007260) | 2.80126591 |
| 37 | Bronchiectasis (HP:0002110) | 2.67476700 |
| 38 | Congenital sensorineural hearing impairment (HP:0008527) | 2.61967803 |
| 39 | Atonic seizures (HP:0010819) | 2.61648196 |
| 40 | Occipital encephalocele (HP:0002085) | 2.59995151 |
| 41 | Impulsivity (HP:0100710) | 2.59407291 |
| 42 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.59112554 |
| 43 | Facial hemangioma (HP:0000329) | 2.58265647 |
| 44 | Thoracolumbar scoliosis (HP:0002944) | 2.56940958 |
| 45 | Sensory axonal neuropathy (HP:0003390) | 2.53913190 |
| 46 | Abnormality of dental color (HP:0011073) | 2.52924888 |
| 47 | Cone-rod dystrophy (HP:0000548) | 2.50500728 |
| 48 | Hyperkalemia (HP:0002153) | 2.46175698 |
| 49 | Self-mutilation (HP:0000742) | 2.45037339 |
| 50 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.39753493 |
| 51 | Retinal atrophy (HP:0001105) | 2.39500390 |
| 52 | Retinal dysplasia (HP:0007973) | 2.37191484 |
| 53 | Inflammation of the large intestine (HP:0002037) | 2.28042413 |
| 54 | Thoracic kyphosis (HP:0002942) | 2.27418338 |
| 55 | Abnormal drinking behavior (HP:0030082) | 2.25333756 |
| 56 | Polydipsia (HP:0001959) | 2.25333756 |
| 57 | Hypoalphalipoproteinemia (HP:0003233) | 2.23350696 |
| 58 | Renal dysplasia (HP:0000110) | 2.22493382 |
| 59 | Hypoplasia of the thymus (HP:0000778) | 2.21650836 |
| 60 | Urinary urgency (HP:0000012) | 2.20662396 |
| 61 | Optic nerve hypoplasia (HP:0000609) | 2.19646146 |
| 62 | Anterior segment dysgenesis (HP:0007700) | 2.18923679 |
| 63 | Bell-shaped thorax (HP:0001591) | 2.15167396 |
| 64 | Flattened epiphyses (HP:0003071) | 2.13703567 |
| 65 | Facial shape deformation (HP:0011334) | 2.05525043 |
| 66 | Potter facies (HP:0002009) | 2.05525043 |
| 67 | Gastrointestinal inflammation (HP:0004386) | 2.04777760 |
| 68 | Menstrual irregularities (HP:0000858) | 2.04602593 |
| 69 | Renovascular hypertension (HP:0100817) | 2.01489882 |
| 70 | Abnormal urine output (HP:0012590) | 1.97866726 |
| 71 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 1.96980942 |
| 72 | Progressive sensorineural hearing impairment (HP:0000408) | 1.96923271 |
| 73 | Tubulointerstitial abnormality (HP:0001969) | 1.95555910 |
| 74 | Progressive cerebellar ataxia (HP:0002073) | 1.94275346 |
| 75 | Abnormal spermatogenesis (HP:0008669) | 1.89956253 |
| 76 | Recurrent corneal erosions (HP:0000495) | 1.85478198 |
| 77 | Azoospermia (HP:0000027) | 1.84566306 |
| 78 | Truncal obesity (HP:0001956) | 1.83349614 |
| 79 | Abnormality of the lumbar spine (HP:0100712) | 1.79536303 |
| 80 | Atrial fibrillation (HP:0005110) | 1.79186668 |
| 81 | Buphthalmos (HP:0000557) | 1.79114416 |
| 82 | Protruding tongue (HP:0010808) | 1.78456437 |
| 83 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.75915880 |
| 84 | Stage 5 chronic kidney disease (HP:0003774) | 1.74509580 |
| 85 | Polyuria (HP:0000103) | 1.72360150 |
| 86 | Amelogenesis imperfecta (HP:0000705) | 1.72061633 |
| 87 | Portal hypertension (HP:0001409) | 1.71751652 |
| 88 | Bradykinesia (HP:0002067) | 1.70851819 |
| 89 | Abnormality of the hepatic vasculature (HP:0006707) | 1.70211484 |
| 90 | Photophobia (HP:0000613) | 1.69677320 |
| 91 | Abnormality of renal excretion (HP:0011036) | 1.67984931 |
| 92 | Inability to walk (HP:0002540) | 1.66884117 |
| 93 | Insulin-resistant diabetes mellitus (HP:0000831) | 1.64210989 |
| 94 | Abnormality of the intrinsic pathway (HP:0010989) | 1.63863856 |
| 95 | Abnormality of male internal genitalia (HP:0000022) | 1.63430557 |
| 96 | Capillary hemangiomas (HP:0005306) | 1.62771080 |
| 97 | Hypoplastic ischia (HP:0003175) | 1.62672596 |
| 98 | Abnormality of the ileum (HP:0001549) | 1.62209126 |
| 99 | Primary atrial arrhythmia (HP:0001692) | 1.60993716 |
| 100 | Type II diabetes mellitus (HP:0005978) | 1.60823162 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PINK1 | 9.74767732 |
| 2 | PLK4 | 5.46706110 |
| 3 | MARK3 | 5.03679095 |
| 4 | TLK1 | 3.05317099 |
| 5 | ZAK | 3.00262908 |
| 6 | STK38 | 2.56586662 |
| 7 | MYLK | 2.53929758 |
| 8 | INSRR | 2.43590006 |
| 9 | BRD4 | 2.25261854 |
| 10 | RPS6KA5 | 2.24964344 |
| 11 | STK38L | 2.07002337 |
| 12 | TESK1 | 2.00536727 |
| 13 | LATS1 | 1.90355426 |
| 14 | NEK2 | 1.87944858 |
| 15 | PLK2 | 1.83790030 |
| 16 | MAPK15 | 1.72704405 |
| 17 | DDR2 | 1.70333433 |
| 18 | MST1R | 1.61651499 |
| 19 | PNCK | 1.48521151 |
| 20 | CAMK1G | 1.29679939 |
| 21 | PRKD3 | 1.28144066 |
| 22 | LATS2 | 1.25494223 |
| 23 | MAP4K2 | 1.23618685 |
| 24 | CDK3 | 1.21152738 |
| 25 | PIK3CG | 1.19974980 |
| 26 | PDPK1 | 1.09804073 |
| 27 | MAP3K9 | 1.08618468 |
| 28 | SGK223 | 1.07455931 |
| 29 | SGK494 | 1.07455931 |
| 30 | MAP2K7 | 1.07376655 |
| 31 | PDK1 | 1.00548582 |
| 32 | CDK12 | 0.93525904 |
| 33 | PTK2B | 0.90478776 |
| 34 | TYRO3 | 0.83103685 |
| 35 | WNK1 | 0.80963995 |
| 36 | TIE1 | 0.80515570 |
| 37 | PRKG2 | 0.78152853 |
| 38 | BMPR1B | 0.77284225 |
| 39 | ARAF | 0.75286064 |
| 40 | FRK | 0.73004104 |
| 41 | DYRK3 | 0.67655759 |
| 42 | PRKCQ | 0.65736768 |
| 43 | NEK6 | 0.65101309 |
| 44 | MAP3K1 | 0.63284238 |
| 45 | VRK1 | 0.61871098 |
| 46 | CAMK1 | 0.58761891 |
| 47 | PRKG1 | 0.56226359 |
| 48 | CDK14 | 0.54916212 |
| 49 | BRAF | 0.54276743 |
| 50 | ROCK1 | 0.53419353 |
| 51 | OBSCN | 0.52304266 |
| 52 | CDC42BPA | 0.47129290 |
| 53 | KSR2 | 0.46284296 |
| 54 | AKT3 | 0.45312239 |
| 55 | MAP3K13 | 0.45270552 |
| 56 | CSNK1A1L | 0.44988551 |
| 57 | PKN1 | 0.44966519 |
| 58 | FGFR2 | 0.43127528 |
| 59 | CDK7 | 0.42450306 |
| 60 | CAMK1D | 0.41939070 |
| 61 | PAK1 | 0.40303519 |
| 62 | RPS6KA1 | 0.39797047 |
| 63 | PAK2 | 0.38210695 |
| 64 | CSNK1G3 | 0.33974375 |
| 65 | DYRK2 | 0.33317159 |
| 66 | MTOR | 0.32141079 |
| 67 | MAPK1 | 0.30905260 |
| 68 | CDK5 | 0.30421243 |
| 69 | SGK2 | 0.29446293 |
| 70 | DYRK1B | 0.28504617 |
| 71 | MAP3K10 | 0.25881375 |
| 72 | RPS6KA2 | 0.25241431 |
| 73 | MOS | 0.22790973 |
| 74 | ATM | 0.22315163 |
| 75 | SIK2 | 0.21833954 |
| 76 | CSNK1G1 | 0.20083462 |
| 77 | GSK3B | 0.19738354 |
| 78 | CSNK1A1 | 0.18728572 |
| 79 | CSNK1G2 | 0.18711310 |
| 80 | ADRBK2 | 0.18510696 |
| 81 | RET | 0.18393915 |
| 82 | FGR | 0.17686763 |
| 83 | EGFR | 0.17194994 |
| 84 | ICK | 0.15741859 |
| 85 | RPS6KA3 | 0.15486052 |
| 86 | TGFBR1 | 0.15416923 |
| 87 | MET | 0.15390616 |
| 88 | PRKAA2 | 0.15238564 |
| 89 | CDK1 | 0.14865953 |
| 90 | CAMK4 | 0.14666819 |
| 91 | DAPK3 | 0.12498452 |
| 92 | MAP3K8 | 0.12497759 |
| 93 | MELK | 0.12219114 |
| 94 | SGK1 | 0.11800212 |
| 95 | EEF2K | 0.10762842 |
| 96 | MAP3K2 | 0.10624475 |
| 97 | RPS6KB1 | 0.09633503 |
| 98 | CDK2 | 0.09502003 |
| 99 | MUSK | 0.07627111 |
| 100 | GRK6 | 0.06273608 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 6.21006724 |
| 2 | Gap junction_Homo sapiens_hsa04540 | 4.42982121 |
| 3 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.84371808 |
| 4 | Olfactory transduction_Homo sapiens_hsa04740 | 3.60579615 |
| 5 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.43656705 |
| 6 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 3.07317289 |
| 7 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.90394655 |
| 8 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 2.54916996 |
| 9 | Arginine biosynthesis_Homo sapiens_hsa00220 | 2.53572404 |
| 10 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 2.45400953 |
| 11 | Phagosome_Homo sapiens_hsa04145 | 2.29478698 |
| 12 | Apoptosis_Homo sapiens_hsa04210 | 2.25987198 |
| 13 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.23507206 |
| 14 | Alcoholism_Homo sapiens_hsa05034 | 1.99741376 |
| 15 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.93831137 |
| 16 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.86716745 |
| 17 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.60128725 |
| 18 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.46675131 |
| 19 | Taste transduction_Homo sapiens_hsa04742 | 1.42993776 |
| 20 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.33393662 |
| 21 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.17834523 |
| 22 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.12086350 |
| 23 | RNA transport_Homo sapiens_hsa03013 | 1.09143942 |
| 24 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.06032050 |
| 25 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.04821063 |
| 26 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.01167116 |
| 27 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.99965798 |
| 28 | Renin secretion_Homo sapiens_hsa04924 | 0.92486259 |
| 29 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.91229772 |
| 30 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.87731471 |
| 31 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.87631479 |
| 32 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.87563825 |
| 33 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.79286835 |
| 34 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.76994204 |
| 35 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.74800346 |
| 36 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.74390593 |
| 37 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.71098156 |
| 38 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.68369238 |
| 39 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.67883266 |
| 40 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.65791925 |
| 41 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.65669067 |
| 42 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.64232746 |
| 43 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.62845753 |
| 44 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.62843366 |
| 45 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.62380845 |
| 46 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.62312256 |
| 47 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.58744267 |
| 48 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.56593191 |
| 49 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.56017807 |
| 50 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.53649497 |
| 51 | Circadian entrainment_Homo sapiens_hsa04713 | 0.52982631 |
| 52 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.51084395 |
| 53 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.51021542 |
| 54 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.49896145 |
| 55 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.49858774 |
| 56 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.49566943 |
| 57 | Basal transcription factors_Homo sapiens_hsa03022 | 0.49374483 |
| 58 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.48817895 |
| 59 | Phototransduction_Homo sapiens_hsa04744 | 0.48793710 |
| 60 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.48421935 |
| 61 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.48230693 |
| 62 | Purine metabolism_Homo sapiens_hsa00230 | 0.47954124 |
| 63 | Salivary secretion_Homo sapiens_hsa04970 | 0.47687317 |
| 64 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.45482936 |
| 65 | Long-term potentiation_Homo sapiens_hsa04720 | 0.45225724 |
| 66 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.44980517 |
| 67 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.44893142 |
| 68 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.42733791 |
| 69 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.42143969 |
| 70 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.39881691 |
| 71 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.37196892 |
| 72 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.37113740 |
| 73 | Circadian rhythm_Homo sapiens_hsa04710 | 0.36693484 |
| 74 | Retinol metabolism_Homo sapiens_hsa00830 | 0.35430494 |
| 75 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.35257576 |
| 76 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.35210041 |
| 77 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.35072030 |
| 78 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.33437386 |
| 79 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.32913752 |
| 80 | Influenza A_Homo sapiens_hsa05164 | 0.32372622 |
| 81 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.31038543 |
| 82 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.30857457 |
| 83 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.29439155 |
| 84 | Nicotine addiction_Homo sapiens_hsa05033 | 0.27844663 |
| 85 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.27783965 |
| 86 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.26976683 |
| 87 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.26785637 |
| 88 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.26724096 |
| 89 | Endocytosis_Homo sapiens_hsa04144 | 0.26285290 |
| 90 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.24771989 |
| 91 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.24460611 |
| 92 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.23629564 |
| 93 | Prostate cancer_Homo sapiens_hsa05215 | 0.22541963 |
| 94 | ABC transporters_Homo sapiens_hsa02010 | 0.22393780 |
| 95 | Morphine addiction_Homo sapiens_hsa05032 | 0.22051780 |
| 96 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.21610707 |
| 97 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.20963287 |
| 98 | Metabolic pathways_Homo sapiens_hsa01100 | 0.18287218 |
| 99 | Carbon metabolism_Homo sapiens_hsa01200 | 0.18235619 |
| 100 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.17910460 |

