

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 8.69891130 |
| 2 | multicellular organism reproduction (GO:0032504) | 8.66118835 |
| 3 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 8.60616630 |
| 4 | binding of sperm to zona pellucida (GO:0007339) | 8.51760793 |
| 5 | sperm-egg recognition (GO:0035036) | 7.93571534 |
| 6 | axonemal dynein complex assembly (GO:0070286) | 7.55952618 |
| 7 | male meiosis (GO:0007140) | 7.49081658 |
| 8 | motile cilium assembly (GO:0044458) | 7.17538710 |
| 9 | reproduction (GO:0000003) | 7.07121625 |
| 10 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 7.04607831 |
| 11 | cell-cell recognition (GO:0009988) | 6.77708518 |
| 12 | plasma membrane fusion (GO:0045026) | 6.69232920 |
| 13 | sperm capacitation (GO:0048240) | 6.60842682 |
| 14 | protein-DNA complex disassembly (GO:0032986) | 6.50814150 |
| 15 | nucleosome disassembly (GO:0006337) | 6.50814150 |
| 16 | cilium or flagellum-dependent cell motility (GO:0001539) | 6.46496150 |
| 17 | positive regulation of catecholamine secretion (GO:0033605) | 6.44328946 |
| 18 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.34240792 |
| 19 | negative regulation of inclusion body assembly (GO:0090084) | 6.27498670 |
| 20 | calcium ion-dependent exocytosis (GO:0017156) | 6.21546683 |
| 21 | organic cation transport (GO:0015695) | 5.99649066 |
| 22 | polyamine biosynthetic process (GO:0006596) | 5.97656890 |
| 23 | microtubule depolymerization (GO:0007019) | 5.92896636 |
| 24 | single fertilization (GO:0007338) | 5.92589413 |
| 25 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.83569446 |
| 26 | germ cell development (GO:0007281) | 5.81791991 |
| 27 | epithelial cilium movement (GO:0003351) | 5.81644577 |
| 28 | chromosome condensation (GO:0030261) | 5.73603748 |
| 29 | spermatid nucleus differentiation (GO:0007289) | 5.70259668 |
| 30 | DNA packaging (GO:0006323) | 5.54349959 |
| 31 | protein polyglutamylation (GO:0018095) | 5.27743557 |
| 32 | spermatogenesis (GO:0007283) | 5.26646655 |
| 33 | male gamete generation (GO:0048232) | 5.24597516 |
| 34 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.01254850 |
| 35 | protein targeting to Golgi (GO:0000042) | 4.89790909 |
| 36 | cilium movement (GO:0003341) | 4.85244958 |
| 37 | response to acidic pH (GO:0010447) | 4.84886846 |
| 38 | gamete generation (GO:0007276) | 4.84663365 |
| 39 | rRNA methylation (GO:0031167) | 4.82249674 |
| 40 | single strand break repair (GO:0000012) | 4.81976684 |
| 41 | establishment of protein localization to Golgi (GO:0072600) | 4.67350144 |
| 42 | microtubule polymerization or depolymerization (GO:0031109) | 4.55109587 |
| 43 | coenzyme catabolic process (GO:0009109) | 4.54813903 |
| 44 | regulation of oxidative stress-induced neuron death (GO:1903203) | 4.54161278 |
| 45 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 4.50248777 |
| 46 | fertilization (GO:0009566) | 4.50152922 |
| 47 | microtubule severing (GO:0051013) | 4.47290188 |
| 48 | male sex determination (GO:0030238) | 4.41397501 |
| 49 | potassium ion export (GO:0071435) | 4.30668094 |
| 50 | ventricular system development (GO:0021591) | 4.29868902 |
| 51 | relaxation of smooth muscle (GO:0044557) | 4.28608067 |
| 52 | regulation of inclusion body assembly (GO:0090083) | 4.27825834 |
| 53 | centriole assembly (GO:0098534) | 4.25475192 |
| 54 | synapsis (GO:0007129) | 4.20846241 |
| 55 | histone exchange (GO:0043486) | 4.11066005 |
| 56 | regulation of oxidative phosphorylation (GO:0002082) | 4.07714793 |
| 57 | response to pheromone (GO:0019236) | 4.05908591 |
| 58 | regulation of cilium movement (GO:0003352) | 4.03986130 |
| 59 | Leydig cell differentiation (GO:0033327) | 4.01190373 |
| 60 | cellular biogenic amine biosynthetic process (GO:0042401) | 3.97210829 |
| 61 | rRNA modification (GO:0000154) | 3.94342895 |
| 62 | multicellular organismal reproductive process (GO:0048609) | 3.93513862 |
| 63 | positive regulation of glycolytic process (GO:0045821) | 3.90959856 |
| 64 | amine biosynthetic process (GO:0009309) | 3.85986664 |
| 65 | mitochondrion degradation (GO:0000422) | 3.84077564 |
| 66 | activation of protein kinase B activity (GO:0032148) | 3.83017715 |
| 67 | sexual reproduction (GO:0019953) | 3.81846297 |
| 68 | cellular response to pH (GO:0071467) | 3.79150319 |
| 69 | histone H3-K9 demethylation (GO:0033169) | 3.74821092 |
| 70 | cGMP-mediated signaling (GO:0019934) | 3.74264977 |
| 71 | cellular ketone body metabolic process (GO:0046950) | 3.72927805 |
| 72 | acrosome assembly (GO:0001675) | 3.52264014 |
| 73 | centriole replication (GO:0007099) | 3.51113824 |
| 74 | regulation of Rab GTPase activity (GO:0032313) | 3.48694946 |
| 75 | positive regulation of Rab GTPase activity (GO:0032851) | 3.48694946 |
| 76 | protein localization to Golgi apparatus (GO:0034067) | 3.43144953 |
| 77 | protein polymerization (GO:0051258) | 3.40720308 |
| 78 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.39107148 |
| 79 | regulation of dopamine secretion (GO:0014059) | 3.36010927 |
| 80 | negative regulation of hydrogen peroxide-induced cell death (GO:1903206) | 3.34450457 |
| 81 | oogenesis (GO:0048477) | 3.34272008 |
| 82 | polyamine metabolic process (GO:0006595) | 3.31936389 |
| 83 | cell recognition (GO:0008037) | 3.31849751 |
| 84 | regulation of phosphatase activity (GO:0010921) | 3.31481963 |
| 85 | ketone body metabolic process (GO:1902224) | 3.27637507 |
| 86 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.27484810 |
| 87 | meiotic nuclear division (GO:0007126) | 3.26014128 |
| 88 | glutamine family amino acid catabolic process (GO:0009065) | 3.24417971 |
| 89 | chromosome organization involved in meiosis (GO:0070192) | 3.19740479 |
| 90 | regulation of ARF GTPase activity (GO:0032312) | 3.19725620 |
| 91 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 3.13714509 |
| 92 | piRNA metabolic process (GO:0034587) | 3.11234047 |
| 93 | cranial nerve morphogenesis (GO:0021602) | 3.07381804 |
| 94 | negative regulation of response to reactive oxygen species (GO:1901032) | 3.03151661 |
| 95 | regulation of hydrogen peroxide-induced cell death (GO:1903205) | 3.01921905 |
| 96 | regulation of autophagic vacuole assembly (GO:2000785) | 2.96768010 |
| 97 | TOR signaling (GO:0031929) | 2.93317548 |
| 98 | acrosome reaction (GO:0007340) | 12.4217779 |
| 99 | sperm motility (GO:0030317) | 12.0921532 |
| 100 | spermatid development (GO:0007286) | 10.2142215 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 8.02936447 |
| 2 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 7.03814775 |
| 3 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 3.16137220 |
| 4 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.05869863 |
| 5 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.99730199 |
| 6 | IGF1R_20145208_ChIP-Seq_DFB_Human | 2.89338051 |
| 7 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.71085666 |
| 8 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.52119985 |
| 9 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.52119985 |
| 10 | FUS_26573619_Chip-Seq_HEK293_Human | 2.41856506 |
| 11 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.33249221 |
| 12 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 2.25168296 |
| 13 | * CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.21311806 |
| 14 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.18257107 |
| 15 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.09049521 |
| 16 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.09049521 |
| 17 | NANOG_20526341_ChIP-Seq_ESCs_Human | 2.01902437 |
| 18 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.90456532 |
| 19 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.84608668 |
| 20 | * ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.80004091 |
| 21 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.78557808 |
| 22 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.77709765 |
| 23 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.72879430 |
| 24 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.65694867 |
| 25 | * ERA_21632823_ChIP-Seq_H3396_Human | 1.65348837 |
| 26 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.64622444 |
| 27 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.63883075 |
| 28 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.63469729 |
| 29 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.60898456 |
| 30 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.57373585 |
| 31 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.56546378 |
| 32 | * SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.54787171 |
| 33 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.52231424 |
| 34 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.51211359 |
| 35 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.50066653 |
| 36 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.49782911 |
| 37 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.46450146 |
| 38 | TBL1_22424771_ChIP-Seq_293T_Human | 1.43052525 |
| 39 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.42591300 |
| 40 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.41425362 |
| 41 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.39242111 |
| 42 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.36611880 |
| 43 | P300_19829295_ChIP-Seq_ESCs_Human | 1.35875274 |
| 44 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.34220023 |
| 45 | AR_25329375_ChIP-Seq_VCAP_Human | 1.32996021 |
| 46 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.28051303 |
| 47 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.26121252 |
| 48 | * SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.25230198 |
| 49 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.25217005 |
| 50 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.20712590 |
| 51 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.18920679 |
| 52 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.18748199 |
| 53 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.18728805 |
| 54 | P68_20966046_ChIP-Seq_HELA_Human | 1.16915923 |
| 55 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.14896776 |
| 56 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.14284590 |
| 57 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.14284590 |
| 58 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.13047338 |
| 59 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.12725986 |
| 60 | VDR_22108803_ChIP-Seq_LS180_Human | 1.12127058 |
| 61 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.11520181 |
| 62 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.11189899 |
| 63 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.10984762 |
| 64 | * SMAD4_21799915_ChIP-Seq_A2780_Human | 1.10789786 |
| 65 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.10464708 |
| 66 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.09466458 |
| 67 | NFYB_21822215_ChIP-Seq_K562_Human | 1.09191541 |
| 68 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.08351778 |
| 69 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.07796666 |
| 70 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.07732088 |
| 71 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.07640995 |
| 72 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.06284380 |
| 73 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.04802866 |
| 74 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.04724964 |
| 75 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 1.03760135 |
| 76 | * P300_27268052_Chip-Seq_Bcells_Human | 1.03649260 |
| 77 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.03444675 |
| 78 | MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human | 1.01492973 |
| 79 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.01267444 |
| 80 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.00295627 |
| 81 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.00106436 |
| 82 | ETV1_20927104_ChIP-Seq_GIST48_Human | 0.99608194 |
| 83 | HOXB7_26014856_ChIP-Seq_BT474_Human | 0.99069668 |
| 84 | BCOR_27268052_Chip-Seq_Bcells_Human | 0.98999667 |
| 85 | DROSHA_22980978_ChIP-Seq_HELA_Human | 0.96496892 |
| 86 | GF1_26923725_Chip-Seq_HPCs_Mouse | 0.96410661 |
| 87 | * TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.94619143 |
| 88 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 0.94449353 |
| 89 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 0.93779500 |
| 90 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.93090080 |
| 91 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 0.91284395 |
| 92 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 0.91175490 |
| 93 | * STAT3_23295773_ChIP-Seq_U87_Human | 0.90953520 |
| 94 | NFYA_21822215_ChIP-Seq_K562_Human | 0.90397528 |
| 95 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 0.89901481 |
| 96 | BCAT_22108803_ChIP-Seq_LS180_Human | 0.88580771 |
| 97 | * PRDM14_20953172_ChIP-Seq_ESCs_Human | 0.88152540 |
| 98 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 0.87967587 |
| 99 | TAF2_19829295_ChIP-Seq_ESCs_Human | 0.86740721 |
| 100 | RXR_22108803_ChIP-Seq_LS180_Human | 0.85050859 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003315_abnormal_perineum_morphology | 4.64112865 |
| 2 | MP0003698_abnormal_male_reproductive | 4.48393399 |
| 3 | MP0008004_abnormal_stomach_pH | 4.30747781 |
| 4 | MP0001929_abnormal_gametogenesis | 3.96400276 |
| 5 | MP0005377_hearing/vestibular/ear_phenot | 3.12255049 |
| 6 | MP0003878_abnormal_ear_physiology | 3.12255049 |
| 7 | MP0005360_urolithiasis | 2.51149881 |
| 8 | MP0002132_abnormal_respiratory_system | 2.50990267 |
| 9 | MP0005670_abnormal_white_adipose | 2.50404958 |
| 10 | MP0002161_abnormal_fertility/fecundity | 2.42533424 |
| 11 | MP0002160_abnormal_reproductive_system | 2.42247856 |
| 12 | MP0005410_abnormal_fertilization | 12.7383733 |
| 13 | MP0002210_abnormal_sex_determination | 1.99796896 |
| 14 | MP0003045_fibrosis | 1.92041755 |
| 15 | MP0003718_maternal_effect | 1.86647125 |
| 16 | MP0001984_abnormal_olfaction | 1.86105173 |
| 17 | MP0001145_abnormal_male_reproductive | 1.75217098 |
| 18 | MP0005647_abnormal_sex_gland | 1.74775410 |
| 19 | MP0000653_abnormal_sex_gland | 1.60471048 |
| 20 | MP0010386_abnormal_urinary_bladder | 1.57737371 |
| 21 | MP0000678_abnormal_parathyroid_gland | 1.56231601 |
| 22 | MP0003136_yellow_coat_color | 1.44797160 |
| 23 | MP0001905_abnormal_dopamine_level | 1.43523863 |
| 24 | MP0005499_abnormal_olfactory_system | 1.37362816 |
| 25 | MP0005394_taste/olfaction_phenotype | 1.37362816 |
| 26 | MP0008995_early_reproductive_senescence | 1.29142386 |
| 27 | MP0010368_abnormal_lymphatic_system | 1.29056093 |
| 28 | MP0005058_abnormal_lysosome_morphology | 1.28724305 |
| 29 | MP0001664_abnormal_digestion | 1.27111814 |
| 30 | MP0002249_abnormal_larynx_morphology | 1.23059027 |
| 31 | MP0009697_abnormal_copulation | 1.20661071 |
| 32 | MP0005395_other_phenotype | 1.19947241 |
| 33 | MP0000537_abnormal_urethra_morphology | 1.19547171 |
| 34 | MP0001348_abnormal_lacrimal_gland | 1.17523550 |
| 35 | MP0002127_abnormal_cardiovascular_syste | 1.16185380 |
| 36 | MP0005248_abnormal_Harderian_gland | 1.12848086 |
| 37 | MP0001485_abnormal_pinna_reflex | 1.12648657 |
| 38 | MP0005389_reproductive_system_phenotype | 1.10751675 |
| 39 | MP0003879_abnormal_hair_cell | 1.06163919 |
| 40 | MP0000538_abnormal_urinary_bladder | 1.04630330 |
| 41 | MP0001188_hyperpigmentation | 1.01581082 |
| 42 | MP0003646_muscle_fatigue | 0.98186895 |
| 43 | MP0005187_abnormal_penis_morphology | 0.95137620 |
| 44 | MP0001486_abnormal_startle_reflex | 0.93340033 |
| 45 | MP0002282_abnormal_trachea_morphology | 0.92178404 |
| 46 | MP0004085_abnormal_heartbeat | 0.91368005 |
| 47 | MP0004859_abnormal_synaptic_plasticity | 0.90513381 |
| 48 | MP0003632_abnormal_nervous_system | 0.90170626 |
| 49 | MP0005253_abnormal_eye_physiology | 0.88982079 |
| 50 | MP0001501_abnormal_sleep_pattern | 0.85143494 |
| 51 | MP0006072_abnormal_retinal_apoptosis | 0.84234070 |
| 52 | MP0003936_abnormal_reproductive_system | 0.81827123 |
| 53 | MP0002822_catalepsy | 0.80635881 |
| 54 | MP0002138_abnormal_hepatobiliary_system | 0.79730954 |
| 55 | MP0001963_abnormal_hearing_physiology | 0.77859113 |
| 56 | MP0003631_nervous_system_phenotype | 0.77168835 |
| 57 | MP0001968_abnormal_touch/_nociception | 0.76617640 |
| 58 | MP0002168_other_aberrant_phenotype | 0.75656055 |
| 59 | MP0000470_abnormal_stomach_morphology | 0.75544997 |
| 60 | MP0001849_ear_inflammation | 0.73082250 |
| 61 | MP0004084_abnormal_cardiac_muscle | 0.72586100 |
| 62 | MP0000026_abnormal_inner_ear | 0.72240239 |
| 63 | MP0005423_abnormal_somatic_nervous | 0.66520216 |
| 64 | MP0000534_abnormal_ureter_morphology | 0.66012558 |
| 65 | MP0004036_abnormal_muscle_relaxation | 0.64096976 |
| 66 | MP0004742_abnormal_vestibular_system | 0.64070831 |
| 67 | MP0005551_abnormal_eye_electrophysiolog | 0.63261569 |
| 68 | MP0002272_abnormal_nervous_system | 0.61696108 |
| 69 | MP0000230_abnormal_systemic_arterial | 0.59394128 |
| 70 | MP0000049_abnormal_middle_ear | 0.58281453 |
| 71 | MP0001270_distended_abdomen | 0.55568742 |
| 72 | MP0005646_abnormal_pituitary_gland | 0.55298078 |
| 73 | MP0005451_abnormal_body_composition | 0.55239619 |
| 74 | MP0005409_darkened_coat_color | 0.55231044 |
| 75 | MP0003633_abnormal_nervous_system | 0.55173231 |
| 76 | MP0009115_abnormal_fat_cell | 0.55150293 |
| 77 | MP0008789_abnormal_olfactory_epithelium | 0.54684144 |
| 78 | MP0001765_abnormal_ion_homeostasis | 0.53769049 |
| 79 | MP0006036_abnormal_mitochondrial_physio | 0.52941336 |
| 80 | MP0001919_abnormal_reproductive_system | 0.52837458 |
| 81 | MP0002067_abnormal_sensory_capabilities | 0.52589359 |
| 82 | MP0000681_abnormal_thyroid_gland | 0.52312495 |
| 83 | MP0002229_neurodegeneration | 0.51763263 |
| 84 | MP0005595_abnormal_vascular_smooth | 0.51749060 |
| 85 | MP0000465_gastrointestinal_hemorrhage | 0.48084963 |
| 86 | MP0001529_abnormal_vocalization | 0.47847308 |
| 87 | MP0004484_altered_response_of | 0.47726362 |
| 88 | MP0000955_abnormal_spinal_cord | 0.46443262 |
| 89 | MP0002735_abnormal_chemical_nociception | 0.46287761 |
| 90 | MP0000343_altered_response_to | 0.45959796 |
| 91 | MP0003635_abnormal_synaptic_transmissio | 0.45747437 |
| 92 | MP0003011_delayed_dark_adaptation | 0.45575946 |
| 93 | MP0008877_abnormal_DNA_methylation | 0.43526144 |
| 94 | MP0005379_endocrine/exocrine_gland_phen | 0.43488315 |
| 95 | MP0005391_vision/eye_phenotype | 0.43122590 |
| 96 | MP0002557_abnormal_social/conspecific_i | 0.42687442 |
| 97 | MP0005166_decreased_susceptibility_to | 0.40490453 |
| 98 | MP0000631_abnormal_neuroendocrine_gland | 0.39131476 |
| 99 | MP0005167_abnormal_blood-brain_barrier | 0.37227225 |
| 100 | MP0002572_abnormal_emotion/affect_behav | 0.37190635 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Resting tremor (HP:0002322) | 7.74804251 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 7.04858946 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 7.04858946 |
| 4 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 6.59027707 |
| 5 | Abnormal respiratory motile cilium physiology (HP:0012261) | 6.18380689 |
| 6 | Abnormal ciliary motility (HP:0012262) | 6.03545426 |
| 7 | Sex reversal (HP:0012245) | 5.95129698 |
| 8 | Abnormal sex determination (HP:0012244) | 5.95129698 |
| 9 | Infertility (HP:0000789) | 5.35426174 |
| 10 | Abnormal respiratory epithelium morphology (HP:0012253) | 5.24351140 |
| 11 | Abnormal respiratory motile cilium morphology (HP:0005938) | 5.24351140 |
| 12 | Hypoplasia of the uterus (HP:0000013) | 5.12577697 |
| 13 | Postural instability (HP:0002172) | 4.94469508 |
| 14 | Tubulointerstitial nephritis (HP:0001970) | 4.42526557 |
| 15 | Nasal polyposis (HP:0100582) | 4.41178242 |
| 16 | Severe visual impairment (HP:0001141) | 4.30176281 |
| 17 | Gonadal dysgenesis (HP:0000133) | 4.07004892 |
| 18 | Aplasia/hypoplasia of the uterus (HP:0008684) | 3.84090837 |
| 19 | Abnormality of the columella (HP:0009929) | 3.80298121 |
| 20 | Colitis (HP:0002583) | 3.79282244 |
| 21 | Chronic hepatic failure (HP:0100626) | 3.79033527 |
| 22 | Abnormality of the nasal mucosa (HP:0000433) | 3.75203378 |
| 23 | Rhinitis (HP:0012384) | 3.62237287 |
| 24 | Male pseudohermaphroditism (HP:0000037) | 3.49898745 |
| 25 | Cerebellar dysplasia (HP:0007033) | 3.41903700 |
| 26 | Reduced antithrombin III activity (HP:0001976) | 3.41642543 |
| 27 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.36117482 |
| 28 | Abnormality of macular pigmentation (HP:0008002) | 3.29245570 |
| 29 | Germ cell neoplasia (HP:0100728) | 3.27923097 |
| 30 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.21351103 |
| 31 | Attenuation of retinal blood vessels (HP:0007843) | 3.18993336 |
| 32 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.95194758 |
| 33 | Ventricular fibrillation (HP:0001663) | 2.95047302 |
| 34 | Type II lissencephaly (HP:0007260) | 2.89310611 |
| 35 | Male infertility (HP:0003251) | 2.83561448 |
| 36 | Chronic bronchitis (HP:0004469) | 2.81798562 |
| 37 | Asymmetric septal hypertrophy (HP:0001670) | 2.75236727 |
| 38 | Occipital encephalocele (HP:0002085) | 2.68586184 |
| 39 | Facial hemangioma (HP:0000329) | 2.66669855 |
| 40 | Bronchiectasis (HP:0002110) | 2.66372606 |
| 41 | Atonic seizures (HP:0010819) | 2.65841153 |
| 42 | Thoracolumbar scoliosis (HP:0002944) | 2.62585249 |
| 43 | Congenital sensorineural hearing impairment (HP:0008527) | 2.61618679 |
| 44 | Hyperkalemia (HP:0002153) | 2.58679221 |
| 45 | Retinal atrophy (HP:0001105) | 2.56925514 |
| 46 | Retinal dysplasia (HP:0007973) | 2.52874687 |
| 47 | Sensory axonal neuropathy (HP:0003390) | 2.50004046 |
| 48 | Renal dysplasia (HP:0000110) | 2.47434297 |
| 49 | Impulsivity (HP:0100710) | 2.46220747 |
| 50 | Bell-shaped thorax (HP:0001591) | 2.45800785 |
| 51 | Self-mutilation (HP:0000742) | 2.45202869 |
| 52 | Inflammation of the large intestine (HP:0002037) | 2.33921112 |
| 53 | Thoracic kyphosis (HP:0002942) | 2.33419163 |
| 54 | Anterior segment dysgenesis (HP:0007700) | 2.28470245 |
| 55 | Urinary urgency (HP:0000012) | 2.27128079 |
| 56 | Flattened epiphyses (HP:0003071) | 2.24010165 |
| 57 | Optic nerve hypoplasia (HP:0000609) | 2.22611951 |
| 58 | Facial shape deformation (HP:0011334) | 2.18772987 |
| 59 | Potter facies (HP:0002009) | 2.18772987 |
| 60 | Abnormal drinking behavior (HP:0030082) | 2.18711824 |
| 61 | Polydipsia (HP:0001959) | 2.18711824 |
| 62 | Cone-rod dystrophy (HP:0000548) | 2.18505516 |
| 63 | Azoospermia (HP:0000027) | 2.15060495 |
| 64 | Gastrointestinal inflammation (HP:0004386) | 2.10861728 |
| 65 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.10231690 |
| 66 | Abnormality of dental color (HP:0011073) | 2.09800519 |
| 67 | Hypoplasia of the thymus (HP:0000778) | 2.06698848 |
| 68 | Abnormal urine output (HP:0012590) | 1.99044561 |
| 69 | Abnormal spermatogenesis (HP:0008669) | 1.98983260 |
| 70 | Aplasia/Hypoplasia of the frontal sinuses (HP:0009119) | 1.98695703 |
| 71 | Hypoalphalipoproteinemia (HP:0003233) | 1.98202824 |
| 72 | Buphthalmos (HP:0000557) | 1.94820287 |
| 73 | Protruding tongue (HP:0010808) | 1.88530903 |
| 74 | Renovascular hypertension (HP:0100817) | 1.87819851 |
| 75 | Abnormality of the lumbar spine (HP:0100712) | 1.86775550 |
| 76 | Recurrent corneal erosions (HP:0000495) | 1.84680644 |
| 77 | Hypoplastic ischia (HP:0003175) | 1.83050422 |
| 78 | Progressive sensorineural hearing impairment (HP:0000408) | 1.76734682 |
| 79 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.76571263 |
| 80 | Tubulointerstitial abnormality (HP:0001969) | 1.76507703 |
| 81 | Atrial fibrillation (HP:0005110) | 1.76413392 |
| 82 | Chronic sinusitis (HP:0011109) | 1.74835342 |
| 83 | Menstrual irregularities (HP:0000858) | 1.74166220 |
| 84 | Inability to walk (HP:0002540) | 1.73873932 |
| 85 | Abnormality of the intrinsic pathway (HP:0010989) | 1.73153610 |
| 86 | Truncal obesity (HP:0001956) | 1.72930812 |
| 87 | Abnormality of the ischium (HP:0003174) | 1.71586705 |
| 88 | Bradykinesia (HP:0002067) | 1.71351139 |
| 89 | Abnormality of male internal genitalia (HP:0000022) | 1.71233621 |
| 90 | Polyuria (HP:0000103) | 1.70971856 |
| 91 | Abnormality of renal excretion (HP:0011036) | 1.68856981 |
| 92 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 1.67923297 |
| 93 | Photophobia (HP:0000613) | 1.67715347 |
| 94 | Rhabdomyolysis (HP:0003201) | 1.66128933 |
| 95 | Progressive cerebellar ataxia (HP:0002073) | 1.65790474 |
| 96 | Decreased number of peripheral myelinated nerve fibers (HP:0003380) | 1.64947911 |
| 97 | Capillary hemangiomas (HP:0005306) | 1.64926550 |
| 98 | Type II diabetes mellitus (HP:0005978) | 1.64430517 |
| 99 | Absent thumb (HP:0009777) | 1.59416668 |
| 100 | Primary atrial arrhythmia (HP:0001692) | 1.58927681 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MARK3 | 5.17887438 |
| 2 | PLK4 | 4.25977271 |
| 3 | TLK1 | 3.23703272 |
| 4 | ZAK | 3.22009628 |
| 5 | STK38 | 3.00632241 |
| 6 | MYLK | 2.65199357 |
| 7 | RPS6KA5 | 2.36763613 |
| 8 | STK38L | 2.29272230 |
| 9 | TESK1 | 2.26756232 |
| 10 | PINK1 | 10.1869020 |
| 11 | LATS1 | 1.94137434 |
| 12 | NEK2 | 1.93677703 |
| 13 | MAPK15 | 1.92732006 |
| 14 | DDR2 | 1.90089145 |
| 15 | INSRR | 1.74540379 |
| 16 | MST1R | 1.73633152 |
| 17 | BRD4 | 1.58037406 |
| 18 | PRKD3 | 1.46631043 |
| 19 | PNCK | 1.38707974 |
| 20 | PLK2 | 1.34204856 |
| 21 | MAP4K2 | 1.25298943 |
| 22 | CAMK1G | 1.22265525 |
| 23 | CDK3 | 1.21947882 |
| 24 | LATS2 | 1.20741278 |
| 25 | MAP3K9 | 1.14865492 |
| 26 | SGK223 | 1.12278089 |
| 27 | SGK494 | 1.12278089 |
| 28 | MAP2K7 | 1.08525689 |
| 29 | PDPK1 | 1.07565470 |
| 30 | PDK1 | 0.92685174 |
| 31 | FRK | 0.80550541 |
| 32 | BMPR1B | 0.79249895 |
| 33 | ARAF | 0.79241287 |
| 34 | PTK2B | 0.78819543 |
| 35 | CDK12 | 0.78063530 |
| 36 | WNK1 | 0.75527597 |
| 37 | PIK3CG | 0.73286672 |
| 38 | PRKCQ | 0.71697350 |
| 39 | PRKG2 | 0.71147614 |
| 40 | DYRK3 | 0.68535530 |
| 41 | MAP3K1 | 0.65862240 |
| 42 | VRK1 | 0.65042843 |
| 43 | ROCK1 | 0.60814148 |
| 44 | CDK14 | 0.60456515 |
| 45 | NEK6 | 0.59266491 |
| 46 | CAMK1 | 0.59006492 |
| 47 | TIE1 | 0.56784459 |
| 48 | PRKG1 | 0.56542538 |
| 49 | BRAF | 0.54210102 |
| 50 | OBSCN | 0.52530503 |
| 51 | CDC42BPA | 0.50089079 |
| 52 | KSR2 | 0.49299656 |
| 53 | AKT3 | 0.48010497 |
| 54 | MAP3K13 | 0.46494379 |
| 55 | TYRO3 | 0.46244092 |
| 56 | CSNK1A1L | 0.45268704 |
| 57 | PKN1 | 0.44823500 |
| 58 | RPS6KA1 | 0.44643905 |
| 59 | FGFR2 | 0.42894885 |
| 60 | PAK2 | 0.41337856 |
| 61 | PAK1 | 0.41072187 |
| 62 | CDK7 | 0.40417418 |
| 63 | DYRK2 | 0.39858088 |
| 64 | CAMK1D | 0.39125645 |
| 65 | DYRK1B | 0.35599304 |
| 66 | MTOR | 0.34934421 |
| 67 | CSNK1G3 | 0.32638495 |
| 68 | CDK5 | 0.32235124 |
| 69 | MAPK1 | 0.30221259 |
| 70 | SGK2 | 0.27249541 |
| 71 | RPS6KA2 | 0.26332940 |
| 72 | SIK2 | 0.24166257 |
| 73 | ATM | 0.23870838 |
| 74 | MET | 0.23128774 |
| 75 | RET | 0.21990607 |
| 76 | ADRBK2 | 0.21623862 |
| 77 | GSK3B | 0.21292361 |
| 78 | FGR | 0.20911391 |
| 79 | MOS | 0.20601367 |
| 80 | EGFR | 0.20363537 |
| 81 | MELK | 0.19126638 |
| 82 | ICK | 0.18350167 |
| 83 | CSNK1G1 | 0.17978904 |
| 84 | CSNK1G2 | 0.17864086 |
| 85 | MAP3K2 | 0.17346939 |
| 86 | TGFBR1 | 0.16928924 |
| 87 | MAP3K8 | 0.16804273 |
| 88 | RPS6KA3 | 0.16441345 |
| 89 | CSNK1A1 | 0.15718032 |
| 90 | DAPK3 | 0.15299621 |
| 91 | CDK1 | 0.14041791 |
| 92 | MINK1 | 0.13458785 |
| 93 | CAMK4 | 0.12996886 |
| 94 | STK39 | 0.12925829 |
| 95 | WNK4 | 0.12738558 |
| 96 | SGK1 | 0.12220658 |
| 97 | RPS6KB1 | 0.12152987 |
| 98 | PRKAA2 | 0.11892879 |
| 99 | EEF2K | 0.10263098 |
| 100 | MAP3K10 | 0.10087900 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 6.22809566 |
| 2 | Gap junction_Homo sapiens_hsa04540 | 4.41437605 |
| 3 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.13619443 |
| 4 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.97806358 |
| 5 | Olfactory transduction_Homo sapiens_hsa04740 | 3.24060592 |
| 6 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 3.16346971 |
| 7 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.89139045 |
| 8 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 2.59780946 |
| 9 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 2.55597107 |
| 10 | Arginine biosynthesis_Homo sapiens_hsa00220 | 2.49692276 |
| 11 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.42604365 |
| 12 | Phagosome_Homo sapiens_hsa04145 | 2.28584720 |
| 13 | Apoptosis_Homo sapiens_hsa04210 | 2.26163606 |
| 14 | Alcoholism_Homo sapiens_hsa05034 | 2.04650776 |
| 15 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 1.93996801 |
| 16 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.87129482 |
| 17 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.61610092 |
| 18 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.36906015 |
| 19 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.35892983 |
| 20 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.35169903 |
| 21 | Taste transduction_Homo sapiens_hsa04742 | 1.34644162 |
| 22 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.15446233 |
| 23 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.09487867 |
| 24 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.00313310 |
| 25 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.99233864 |
| 26 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.99066910 |
| 27 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.96524254 |
| 28 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.95472193 |
| 29 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.95401931 |
| 30 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.94163012 |
| 31 | RNA transport_Homo sapiens_hsa03013 | 0.87406920 |
| 32 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.84866260 |
| 33 | Renin secretion_Homo sapiens_hsa04924 | 0.83545320 |
| 34 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.78515406 |
| 35 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.78350457 |
| 36 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.74633674 |
| 37 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.71933596 |
| 38 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.69416797 |
| 39 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.67040787 |
| 40 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.66050785 |
| 41 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.64922271 |
| 42 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.61590736 |
| 43 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.61198484 |
| 44 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.61134884 |
| 45 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.60923069 |
| 46 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.57149110 |
| 47 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.55344149 |
| 48 | Circadian entrainment_Homo sapiens_hsa04713 | 0.55089186 |
| 49 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.54988712 |
| 50 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.51629458 |
| 51 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.50813465 |
| 52 | Purine metabolism_Homo sapiens_hsa00230 | 0.50515983 |
| 53 | Basal transcription factors_Homo sapiens_hsa03022 | 0.50368565 |
| 54 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.49130264 |
| 55 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.48003543 |
| 56 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.47429858 |
| 57 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.46587375 |
| 58 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.45683687 |
| 59 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.44595343 |
| 60 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.44324338 |
| 61 | Circadian rhythm_Homo sapiens_hsa04710 | 0.44122165 |
| 62 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.43669977 |
| 63 | Phototransduction_Homo sapiens_hsa04744 | 0.43270289 |
| 64 | Salivary secretion_Homo sapiens_hsa04970 | 0.42652739 |
| 65 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.41260913 |
| 66 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.40622611 |
| 67 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.38672531 |
| 68 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.37674712 |
| 69 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.36787030 |
| 70 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.35554258 |
| 71 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.35230550 |
| 72 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.34896636 |
| 73 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.33808334 |
| 74 | Long-term potentiation_Homo sapiens_hsa04720 | 0.32372943 |
| 75 | Retinol metabolism_Homo sapiens_hsa00830 | 0.31466524 |
| 76 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.30741420 |
| 77 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.30228661 |
| 78 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.29343960 |
| 79 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.28699464 |
| 80 | Endocytosis_Homo sapiens_hsa04144 | 0.27501720 |
| 81 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.27231137 |
| 82 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.26960494 |
| 83 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.26018747 |
| 84 | Morphine addiction_Homo sapiens_hsa05032 | 0.25646652 |
| 85 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.25449668 |
| 86 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.25418688 |
| 87 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.24837994 |
| 88 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.22795702 |
| 89 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.22406849 |
| 90 | Nicotine addiction_Homo sapiens_hsa05033 | 0.22193426 |
| 91 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.22136103 |
| 92 | Influenza A_Homo sapiens_hsa05164 | 0.21784937 |
| 93 | Tight junction_Homo sapiens_hsa04530 | 0.21591704 |
| 94 | Carbon metabolism_Homo sapiens_hsa01200 | 0.21571886 |
| 95 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.21500104 |
| 96 | Metabolic pathways_Homo sapiens_hsa01100 | 0.21028187 |
| 97 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.20520738 |
| 98 | Prostate cancer_Homo sapiens_hsa05215 | 0.20496905 |
| 99 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.18857412 |
| 100 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.18203631 |

