

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.14857521 |
| 2 | response to pheromone (GO:0019236) | 8.73587330 |
| 3 | chromosome condensation (GO:0030261) | 7.71855858 |
| 4 | microtubule depolymerization (GO:0007019) | 7.58264845 |
| 5 | sperm capacitation (GO:0048240) | 7.56739023 |
| 6 | single strand break repair (GO:0000012) | 7.55254441 |
| 7 | spermatid development (GO:0007286) | 7.51187759 |
| 8 | DNA packaging (GO:0006323) | 7.48166724 |
| 9 | spermatid nucleus differentiation (GO:0007289) | 7.37179360 |
| 10 | plasma membrane fusion (GO:0045026) | 7.03051059 |
| 11 | sperm-egg recognition (GO:0035036) | 6.77268766 |
| 12 | axonemal dynein complex assembly (GO:0070286) | 6.54290694 |
| 13 | protein polyglutamylation (GO:0018095) | 6.48267852 |
| 14 | binding of sperm to zona pellucida (GO:0007339) | 6.26592860 |
| 15 | multicellular organism reproduction (GO:0032504) | 6.22717980 |
| 16 | microtubule polymerization or depolymerization (GO:0031109) | 6.16274394 |
| 17 | calcium ion-dependent exocytosis (GO:0017156) | 6.03876009 |
| 18 | reproduction (GO:0000003) | 5.73703445 |
| 19 | rRNA methylation (GO:0031167) | 5.71466645 |
| 20 | protein targeting to Golgi (GO:0000042) | 5.66596999 |
| 21 | regulation of cilium movement (GO:0003352) | 5.54483882 |
| 22 | cell-cell recognition (GO:0009988) | 5.50185455 |
| 23 | establishment of protein localization to Golgi (GO:0072600) | 5.44960756 |
| 24 | negative regulation of inclusion body assembly (GO:0090084) | 5.41725573 |
| 25 | spermatogenesis (GO:0007283) | 5.35683810 |
| 26 | male gamete generation (GO:0048232) | 5.33752429 |
| 27 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.30930087 |
| 28 | sexual reproduction (GO:0019953) | 5.22584494 |
| 29 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.16348153 |
| 30 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.08103833 |
| 31 | centriole replication (GO:0007099) | 5.05216458 |
| 32 | epithelial cilium movement (GO:0003351) | 4.99243092 |
| 33 | rRNA modification (GO:0000154) | 4.95554836 |
| 34 | motile cilium assembly (GO:0044458) | 4.94952925 |
| 35 | cellular ketone body metabolic process (GO:0046950) | 4.91437289 |
| 36 | gamete generation (GO:0007276) | 4.90241961 |
| 37 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.83184317 |
| 38 | microtubule severing (GO:0051013) | 4.80556500 |
| 39 | cell wall macromolecule metabolic process (GO:0044036) | 4.77545999 |
| 40 | cell wall macromolecule catabolic process (GO:0016998) | 4.48285424 |
| 41 | single fertilization (GO:0007338) | 4.45332165 |
| 42 | cilium movement (GO:0003341) | 4.38561078 |
| 43 | centriole assembly (GO:0098534) | 4.33969193 |
| 44 | ketone body metabolic process (GO:1902224) | 4.32815683 |
| 45 | protein localization to Golgi apparatus (GO:0034067) | 4.32242183 |
| 46 | germ cell development (GO:0007281) | 4.18398228 |
| 47 | chromatin silencing (GO:0006342) | 4.16399662 |
| 48 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.07004866 |
| 49 | * regulation of Rab GTPase activity (GO:0032313) | 3.99124247 |
| 50 | * positive regulation of Rab GTPase activity (GO:0032851) | 3.99124247 |
| 51 | RNA destabilization (GO:0050779) | 3.92399538 |
| 52 | regulation of microtubule-based movement (GO:0060632) | 3.92162345 |
| 53 | regulation of centriole replication (GO:0046599) | 3.90196212 |
| 54 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.89262462 |
| 55 | regulation of inclusion body assembly (GO:0090083) | 3.87299087 |
| 56 | multicellular organismal reproductive process (GO:0048609) | 3.85956572 |
| 57 | coenzyme catabolic process (GO:0009109) | 3.82481168 |
| 58 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.81511088 |
| 59 | fertilization (GO:0009566) | 3.67670590 |
| 60 | nucleus organization (GO:0006997) | 3.64885618 |
| 61 | seminiferous tubule development (GO:0072520) | 3.60477820 |
| 62 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.39196150 |
| 63 | organic cation transport (GO:0015695) | 3.34781279 |
| 64 | polyamine biosynthetic process (GO:0006596) | 3.25766097 |
| 65 | response to acidic pH (GO:0010447) | 3.25619345 |
| 66 | protein-DNA complex disassembly (GO:0032986) | 3.20978101 |
| 67 | nucleosome disassembly (GO:0006337) | 3.20978101 |
| 68 | cranial nerve morphogenesis (GO:0021602) | 3.19556140 |
| 69 | musculoskeletal movement (GO:0050881) | 3.18152149 |
| 70 | multicellular organismal movement (GO:0050879) | 3.18152149 |
| 71 | cerebral cortex neuron differentiation (GO:0021895) | 3.09289890 |
| 72 | histone H3-K9 demethylation (GO:0033169) | 3.03574554 |
| 73 | microtubule nucleation (GO:0007020) | 3.02561121 |
| 74 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.99619597 |
| 75 | cell recognition (GO:0008037) | 2.99522605 |
| 76 | negative regulation of gene expression, epigenetic (GO:0045814) | 2.98532774 |
| 77 | histone exchange (GO:0043486) | 2.95533895 |
| 78 | spinal cord motor neuron differentiation (GO:0021522) | 2.86115078 |
| 79 | peptidyl-threonine dephosphorylation (GO:0035970) | 2.86027878 |
| 80 | regulation of somitogenesis (GO:0014807) | 2.79319563 |
| 81 | glycerol ether metabolic process (GO:0006662) | 2.79276273 |
| 82 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.78442721 |
| 83 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 2.76862117 |
| 84 | multicellular organismal development (GO:0007275) | 2.76610510 |
| 85 | cilium organization (GO:0044782) | 2.75316095 |
| 86 | cilium assembly (GO:0042384) | 2.75054840 |
| 87 | cellular biogenic amine biosynthetic process (GO:0042401) | 2.73928618 |
| 88 | ether metabolic process (GO:0018904) | 2.73904781 |
| 89 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 2.72345033 |
| 90 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.68455860 |
| 91 | cellular response to pH (GO:0071467) | 2.67007607 |
| 92 | somite rostral/caudal axis specification (GO:0032525) | 2.66028058 |
| 93 | male meiosis I (GO:0007141) | 2.65522009 |
| 94 | amine biosynthetic process (GO:0009309) | 2.63410925 |
| 95 | DNA methylation involved in gamete generation (GO:0043046) | 2.62914376 |
| 96 | male meiosis (GO:0007140) | 2.60035581 |
| 97 | regulation of interleukin-13 production (GO:0032656) | 2.59694134 |
| 98 | ventricular system development (GO:0021591) | 2.57347927 |
| 99 | acrosome reaction (GO:0007340) | 11.1244120 |
| 100 | sperm motility (GO:0030317) | 10.6021888 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.01741188 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.95242855 |
| 3 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.01119039 |
| 4 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.73534691 |
| 5 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.68812689 |
| 6 | FUS_26573619_Chip-Seq_HEK293_Human | 2.56651603 |
| 7 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.49654724 |
| 8 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.45453221 |
| 9 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.45453221 |
| 10 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.40924513 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.21818959 |
| 12 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.21818959 |
| 13 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 2.08289296 |
| 14 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.07992781 |
| 15 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.95976611 |
| 16 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.91225968 |
| 17 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.88103243 |
| 18 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.84631299 |
| 19 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.83727620 |
| 20 | P300_19829295_ChIP-Seq_ESCs_Human | 1.81502924 |
| 21 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.81114613 |
| 22 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.80563184 |
| 23 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.74086559 |
| 24 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.67941737 |
| 25 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.66436108 |
| 26 | * ERA_21632823_ChIP-Seq_H3396_Human | 1.66424026 |
| 27 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.65608113 |
| 28 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.63939951 |
| 29 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.61901031 |
| 30 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.61785842 |
| 31 | AR_25329375_ChIP-Seq_VCAP_Human | 1.59507023 |
| 32 | VDR_22108803_ChIP-Seq_LS180_Human | 1.58709652 |
| 33 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.58365025 |
| 34 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.56802731 |
| 35 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.55424853 |
| 36 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.50387083 |
| 37 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.47644859 |
| 38 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.47578201 |
| 39 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.46838972 |
| 40 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.46314845 |
| 41 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.45883285 |
| 42 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.45316149 |
| 43 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.45010243 |
| 44 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.44901014 |
| 45 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.44155666 |
| 46 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.42462826 |
| 47 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.41336014 |
| 48 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.38712189 |
| 49 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.38349705 |
| 50 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.36139356 |
| 51 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.33906363 |
| 52 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.32395087 |
| 53 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.30325224 |
| 54 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.28816102 |
| 55 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.28390200 |
| 56 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.27621750 |
| 57 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.27541683 |
| 58 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.26612395 |
| 59 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.25732031 |
| 60 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.24588266 |
| 61 | * OCT4_20526341_ChIP-Seq_ESCs_Human | 1.22944293 |
| 62 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.21953681 |
| 63 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.21953681 |
| 64 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.20138351 |
| 65 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.20031441 |
| 66 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.18232875 |
| 67 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.16944831 |
| 68 | STAT3_23295773_ChIP-Seq_U87_Human | 1.16865951 |
| 69 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.15789257 |
| 70 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.15114543 |
| 71 | TBL1_22424771_ChIP-Seq_293T_Human | 1.14827127 |
| 72 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.14412235 |
| 73 | NFYB_21822215_ChIP-Seq_K562_Human | 1.13644828 |
| 74 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.13410280 |
| 75 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.12566558 |
| 76 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.12239053 |
| 77 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.11157098 |
| 78 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.11117009 |
| 79 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.10531478 |
| 80 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.09389285 |
| 81 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.09283221 |
| 82 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.08687412 |
| 83 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.08581005 |
| 84 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.08039076 |
| 85 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 1.06541665 |
| 86 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.05187478 |
| 87 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.04849643 |
| 88 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.03264989 |
| 89 | NCOR_22424771_ChIP-Seq_293T_Human | 1.03222049 |
| 90 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.02525841 |
| 91 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.01669638 |
| 92 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.00989882 |
| 93 | NFYA_21822215_ChIP-Seq_K562_Human | 1.00656909 |
| 94 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.99918370 |
| 95 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 0.98977026 |
| 96 | HOXB7_26014856_ChIP-Seq_BT474_Human | 0.98931321 |
| 97 | RNF2_27304074_Chip-Seq_NSC_Mouse | 0.97053542 |
| 98 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 0.95884938 |
| 99 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 0.95543729 |
| 100 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 0.93458404 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 9.10928088 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 3.85353216 |
| 3 | MP0003878_abnormal_ear_physiology | 3.85353216 |
| 4 | MP0003698_abnormal_male_reproductive | 3.72133960 |
| 5 | MP0001929_abnormal_gametogenesis | 3.13532685 |
| 6 | MP0005670_abnormal_white_adipose | 2.96547632 |
| 7 | MP0002234_abnormal_pharynx_morphology | 2.29612686 |
| 8 | MP0001348_abnormal_lacrimal_gland | 2.16538322 |
| 9 | MP0003880_abnormal_central_pattern | 2.06316277 |
| 10 | MP0002161_abnormal_fertility/fecundity | 2.05850775 |
| 11 | MP0000678_abnormal_parathyroid_gland | 1.94578352 |
| 12 | MP0003718_maternal_effect | 1.92771681 |
| 13 | MP0005423_abnormal_somatic_nervous | 1.85531069 |
| 14 | MP0003646_muscle_fatigue | 1.83869889 |
| 15 | MP0004859_abnormal_synaptic_plasticity | 1.83429325 |
| 16 | MP0001486_abnormal_startle_reflex | 1.79848394 |
| 17 | MP0001968_abnormal_touch/_nociception | 1.78155279 |
| 18 | MP0006292_abnormal_olfactory_placode | 1.77534776 |
| 19 | MP0001485_abnormal_pinna_reflex | 1.74316016 |
| 20 | MP0005248_abnormal_Harderian_gland | 1.69473988 |
| 21 | MP0003011_delayed_dark_adaptation | 1.67277907 |
| 22 | MP0000049_abnormal_middle_ear | 1.63835934 |
| 23 | MP0002210_abnormal_sex_determination | 1.63581457 |
| 24 | MP0001529_abnormal_vocalization | 1.59849522 |
| 25 | MP0002653_abnormal_ependyma_morphology | 1.59056100 |
| 26 | MP0002735_abnormal_chemical_nociception | 1.49962971 |
| 27 | MP0002282_abnormal_trachea_morphology | 1.47062003 |
| 28 | MP0002132_abnormal_respiratory_system | 1.44136520 |
| 29 | MP0009053_abnormal_anal_canal | 1.43909018 |
| 30 | MP0002249_abnormal_larynx_morphology | 1.42759978 |
| 31 | MP0001145_abnormal_male_reproductive | 1.40569920 |
| 32 | MP0004742_abnormal_vestibular_system | 1.38165937 |
| 33 | MP0001984_abnormal_olfaction | 1.33775219 |
| 34 | MP0000653_abnormal_sex_gland | 1.32421154 |
| 35 | MP0000026_abnormal_inner_ear | 1.32089593 |
| 36 | MP0001963_abnormal_hearing_physiology | 1.31694237 |
| 37 | MP0005499_abnormal_olfactory_system | 1.31122703 |
| 38 | MP0005394_taste/olfaction_phenotype | 1.31122703 |
| 39 | MP0008789_abnormal_olfactory_epithelium | 1.30233452 |
| 40 | MP0003119_abnormal_digestive_system | 1.30215802 |
| 41 | MP0003136_yellow_coat_color | 1.28965965 |
| 42 | MP0000955_abnormal_spinal_cord | 1.27080326 |
| 43 | MP0005379_endocrine/exocrine_gland_phen | 1.26260735 |
| 44 | MP0009745_abnormal_behavioral_response | 1.24868443 |
| 45 | MP0002822_catalepsy | 1.21547855 |
| 46 | MP0008877_abnormal_DNA_methylation | 1.20872049 |
| 47 | MP0000516_abnormal_urinary_system | 1.19661720 |
| 48 | MP0005367_renal/urinary_system_phenotyp | 1.19661720 |
| 49 | MP0002557_abnormal_social/conspecific_i | 1.18379703 |
| 50 | MP0002272_abnormal_nervous_system | 1.18123402 |
| 51 | MP0008995_early_reproductive_senescence | 1.16112035 |
| 52 | MP0002736_abnormal_nociception_after | 1.16002841 |
| 53 | MP0002067_abnormal_sensory_capabilities | 1.15237796 |
| 54 | MP0000534_abnormal_ureter_morphology | 1.11734987 |
| 55 | MP0009046_muscle_twitch | 1.11368788 |
| 56 | MP0005551_abnormal_eye_electrophysiolog | 1.09985844 |
| 57 | MP0002572_abnormal_emotion/affect_behav | 1.09322710 |
| 58 | MP0005253_abnormal_eye_physiology | 1.08574902 |
| 59 | MP0006276_abnormal_autonomic_nervous | 1.07761011 |
| 60 | MP0000778_abnormal_nervous_system | 1.07245854 |
| 61 | MP0000566_synostosis | 1.06856175 |
| 62 | MP0003635_abnormal_synaptic_transmissio | 1.06747063 |
| 63 | MP0001293_anophthalmia | 1.04414842 |
| 64 | MP0002733_abnormal_thermal_nociception | 1.03163212 |
| 65 | MP0001905_abnormal_dopamine_level | 1.02047682 |
| 66 | MP0002734_abnormal_mechanical_nocicepti | 1.00925963 |
| 67 | MP0002102_abnormal_ear_morphology | 0.98383323 |
| 68 | MP0005645_abnormal_hypothalamus_physiol | 0.97642780 |
| 69 | MP0003122_maternal_imprinting | 0.97159046 |
| 70 | MP0002127_abnormal_cardiovascular_syste | 0.92908119 |
| 71 | MP0003315_abnormal_perineum_morphology | 0.91526830 |
| 72 | MP0009697_abnormal_copulation | 0.88585178 |
| 73 | MP0001970_abnormal_pain_threshold | 0.87320041 |
| 74 | MP0002229_neurodegeneration | 0.82772071 |
| 75 | MP0002064_seizures | 0.82058694 |
| 76 | MP0002184_abnormal_innervation | 0.81947989 |
| 77 | MP0003879_abnormal_hair_cell | 0.81568911 |
| 78 | MP0002063_abnormal_learning/memory/cond | 0.81005443 |
| 79 | MP0005187_abnormal_penis_morphology | 0.79096080 |
| 80 | MP0004085_abnormal_heartbeat | 0.78666741 |
| 81 | MP0002882_abnormal_neuron_morphology | 0.77963183 |
| 82 | MP0008569_lethality_at_weaning | 0.77347015 |
| 83 | MP0003861_abnormal_nervous_system | 0.76931783 |
| 84 | MP0004270_analgesia | 0.76683999 |
| 85 | MP0002752_abnormal_somatic_nervous | 0.76317701 |
| 86 | MP0005391_vision/eye_phenotype | 0.75045405 |
| 87 | MP0002938_white_spotting | 0.74886833 |
| 88 | MP0000631_abnormal_neuroendocrine_gland | 0.72866955 |
| 89 | MP0003942_abnormal_urinary_system | 0.71008508 |
| 90 | MP0003937_abnormal_limbs/digits/tail_de | 0.70282573 |
| 91 | MP0003938_abnormal_ear_development | 0.68895283 |
| 92 | MP0003385_abnormal_body_wall | 0.67239229 |
| 93 | MP0004811_abnormal_neuron_physiology | 0.65514705 |
| 94 | MP0001299_abnormal_eye_distance/ | 0.65047946 |
| 95 | MP0003137_abnormal_impulse_conducting | 0.64639034 |
| 96 | MP0003283_abnormal_digestive_organ | 0.63877546 |
| 97 | MP0005167_abnormal_blood-brain_barrier | 0.63159383 |
| 98 | MP0001765_abnormal_ion_homeostasis | 0.61507272 |
| 99 | MP0005395_other_phenotype | 0.60620977 |
| 100 | MP0001501_abnormal_sleep_pattern | 0.60006367 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 6.07713032 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.54474720 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.54474720 |
| 4 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.79466001 |
| 5 | Abnormal ciliary motility (HP:0012262) | 4.74889157 |
| 6 | Attenuation of retinal blood vessels (HP:0007843) | 4.59388426 |
| 7 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 4.55291098 |
| 8 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.50373416 |
| 9 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.50373416 |
| 10 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.33916568 |
| 11 | Chronic hepatic failure (HP:0100626) | 4.04491410 |
| 12 | Tubulointerstitial nephritis (HP:0001970) | 3.98937372 |
| 13 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.68023152 |
| 14 | Abnormality of macular pigmentation (HP:0008002) | 3.65581290 |
| 15 | Infertility (HP:0000789) | 3.54385293 |
| 16 | Nephronophthisis (HP:0000090) | 3.37087923 |
| 17 | Bell-shaped thorax (HP:0001591) | 3.31611722 |
| 18 | Hypoplastic ischia (HP:0003175) | 3.24243937 |
| 19 | Rhinitis (HP:0012384) | 3.14568800 |
| 20 | Resting tremor (HP:0002322) | 3.12049957 |
| 21 | Hyperkalemia (HP:0002153) | 2.94527354 |
| 22 | Male infertility (HP:0003251) | 2.93670332 |
| 23 | Optic nerve hypoplasia (HP:0000609) | 2.92166100 |
| 24 | Abnormality of the renal medulla (HP:0100957) | 2.88116880 |
| 25 | Pancreatic fibrosis (HP:0100732) | 2.87786555 |
| 26 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.86754635 |
| 27 | Abnormality of the ischium (HP:0003174) | 2.85251326 |
| 28 | Impulsivity (HP:0100710) | 2.80312828 |
| 29 | Asymmetric septal hypertrophy (HP:0001670) | 2.80041389 |
| 30 | Facial shape deformation (HP:0011334) | 2.78982801 |
| 31 | Potter facies (HP:0002009) | 2.78982801 |
| 32 | Progressive cerebellar ataxia (HP:0002073) | 2.77050381 |
| 33 | Renal dysplasia (HP:0000110) | 2.72005465 |
| 34 | Nasal polyposis (HP:0100582) | 2.61105542 |
| 35 | Pancreatic cysts (HP:0001737) | 2.59719310 |
| 36 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.59692079 |
| 37 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.52745714 |
| 38 | Unilateral renal agenesis (HP:0000122) | 2.52261130 |
| 39 | True hermaphroditism (HP:0010459) | 2.50194197 |
| 40 | Occipital encephalocele (HP:0002085) | 2.49141943 |
| 41 | Enlarged epiphyses (HP:0010580) | 2.43568225 |
| 42 | Azoospermia (HP:0000027) | 2.43319346 |
| 43 | Postural instability (HP:0002172) | 2.42974575 |
| 44 | Abnormal spermatogenesis (HP:0008669) | 2.42535105 |
| 45 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.41379698 |
| 46 | Retinal dysplasia (HP:0007973) | 2.39879522 |
| 47 | Myokymia (HP:0002411) | 2.39744804 |
| 48 | Abnormality of the aortic arch (HP:0012303) | 2.38772213 |
| 49 | Abnormal urine output (HP:0012590) | 2.36995376 |
| 50 | Tubulointerstitial abnormality (HP:0001969) | 2.28158437 |
| 51 | Midline defect of the nose (HP:0004122) | 2.28076163 |
| 52 | Anophthalmia (HP:0000528) | 2.25456232 |
| 53 | Sclerocornea (HP:0000647) | 2.17874977 |
| 54 | Stage 5 chronic kidney disease (HP:0003774) | 2.15279092 |
| 55 | Chronic bronchitis (HP:0004469) | 2.14394156 |
| 56 | Abnormal drinking behavior (HP:0030082) | 2.13875813 |
| 57 | Polydipsia (HP:0001959) | 2.13875813 |
| 58 | Cone-rod dystrophy (HP:0000548) | 2.13014468 |
| 59 | Polyuria (HP:0000103) | 2.12684752 |
| 60 | Type II lissencephaly (HP:0007260) | 2.11642026 |
| 61 | Pendular nystagmus (HP:0012043) | 2.11197689 |
| 62 | Abnormality of renal excretion (HP:0011036) | 2.11013411 |
| 63 | Cystic liver disease (HP:0006706) | 2.09809792 |
| 64 | Absent epiphyses (HP:0010577) | 2.09060955 |
| 65 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.09060955 |
| 66 | Anencephaly (HP:0002323) | 2.05022377 |
| 67 | Congenital malformation of the right heart (HP:0011723) | 2.03726888 |
| 68 | Double outlet right ventricle (HP:0001719) | 2.03726888 |
| 69 | Cerebellar dysplasia (HP:0007033) | 2.02319626 |
| 70 | Abnormality of the pubic bones (HP:0003172) | 2.00614340 |
| 71 | Amblyopia (HP:0000646) | 1.98540510 |
| 72 | Decreased central vision (HP:0007663) | 1.98302535 |
| 73 | Generalized aminoaciduria (HP:0002909) | 1.96435103 |
| 74 | Bronchiectasis (HP:0002110) | 1.94068514 |
| 75 | Abnormality of potassium homeostasis (HP:0011042) | 1.87960774 |
| 76 | Hypoplasia of the thymus (HP:0000778) | 1.87468210 |
| 77 | Genital tract atresia (HP:0001827) | 1.85147634 |
| 78 | Abnormality of the nasal mucosa (HP:0000433) | 1.84532500 |
| 79 | Intellectual disability, moderate (HP:0002342) | 1.83887554 |
| 80 | Sensory axonal neuropathy (HP:0003390) | 1.82928656 |
| 81 | Flat capital femoral epiphysis (HP:0003370) | 1.81328848 |
| 82 | Vaginal atresia (HP:0000148) | 1.75827620 |
| 83 | Renovascular hypertension (HP:0100817) | 1.73071042 |
| 84 | Postaxial foot polydactyly (HP:0001830) | 1.73045647 |
| 85 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.72164835 |
| 86 | Abnormality of midbrain morphology (HP:0002418) | 1.71751781 |
| 87 | Molar tooth sign on MRI (HP:0002419) | 1.71751781 |
| 88 | Renal Fanconi syndrome (HP:0001994) | 1.70581623 |
| 89 | Gait imbalance (HP:0002141) | 1.69274949 |
| 90 | Progressive sensorineural hearing impairment (HP:0000408) | 1.68356856 |
| 91 | Hypoplasia of the brainstem (HP:0002365) | 1.66542938 |
| 92 | Aplasia/Hypoplasia of the brainstem (HP:0007362) | 1.66542938 |
| 93 | Truncal obesity (HP:0001956) | 1.65987615 |
| 94 | Medial flaring of the eyebrow (HP:0010747) | 1.63428334 |
| 95 | Poor coordination (HP:0002370) | 1.62485108 |
| 96 | Congenital primary aphakia (HP:0007707) | 1.61488848 |
| 97 | Tubular atrophy (HP:0000092) | 1.60794549 |
| 98 | Growth hormone deficiency (HP:0000824) | 1.60611889 |
| 99 | Neoplasm of the heart (HP:0100544) | 1.59271742 |
| 100 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.58459705 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 6.71920676 |
| 2 | TESK1 | 4.23529338 |
| 3 | DDR2 | 3.74381637 |
| 4 | MAP4K2 | 3.71897526 |
| 5 | INSRR | 3.31767139 |
| 6 | PLK2 | 2.92723063 |
| 7 | PRKD3 | 2.71854703 |
| 8 | BRD4 | 2.62742032 |
| 9 | STK38 | 2.59289171 |
| 10 | MAPK15 | 2.51683296 |
| 11 | PNCK | 2.29102870 |
| 12 | STK38L | 2.17343938 |
| 13 | MAP3K4 | 2.02744814 |
| 14 | MAP2K7 | 1.94376976 |
| 15 | MARK1 | 1.73011281 |
| 16 | CAMK1G | 1.72769120 |
| 17 | DYRK1B | 1.63705704 |
| 18 | PINK1 | 1.62697409 |
| 19 | EPHA4 | 1.48282052 |
| 20 | DYRK2 | 1.34334594 |
| 21 | PTK2B | 1.27948031 |
| 22 | CDK19 | 1.20860254 |
| 23 | WNK1 | 1.20666783 |
| 24 | DYRK3 | 1.13752672 |
| 25 | BMPR1B | 1.12003178 |
| 26 | ZAK | 1.07001722 |
| 27 | FRK | 1.04527645 |
| 28 | UHMK1 | 1.02573949 |
| 29 | CASK | 1.02565553 |
| 30 | VRK1 | 0.98419661 |
| 31 | NTRK3 | 0.97293047 |
| 32 | TYRO3 | 0.97183166 |
| 33 | MAPK13 | 0.95699701 |
| 34 | PDK1 | 0.94642862 |
| 35 | PIK3CG | 0.93927558 |
| 36 | PDPK1 | 0.92370179 |
| 37 | WNK3 | 0.90984692 |
| 38 | MAP3K9 | 0.86794875 |
| 39 | SGK494 | 0.86104661 |
| 40 | SGK223 | 0.86104661 |
| 41 | CDK7 | 0.86009756 |
| 42 | SIK2 | 0.85596011 |
| 43 | CAMK1 | 0.85455466 |
| 44 | LATS2 | 0.81795165 |
| 45 | PRKCG | 0.80550024 |
| 46 | WNK4 | 0.78797315 |
| 47 | ADRBK2 | 0.77242654 |
| 48 | CDK3 | 0.76344851 |
| 49 | CAMK1D | 0.73892902 |
| 50 | NUAK1 | 0.71129559 |
| 51 | PKN1 | 0.69500080 |
| 52 | PRKG1 | 0.68861934 |
| 53 | NEK6 | 0.67725094 |
| 54 | LATS1 | 0.66632604 |
| 55 | MINK1 | 0.66170157 |
| 56 | TRIM28 | 0.62815567 |
| 57 | CSNK1G2 | 0.62108082 |
| 58 | NTRK2 | 0.61061983 |
| 59 | CSNK1G3 | 0.60675936 |
| 60 | TNIK | 0.59337595 |
| 61 | CAMK4 | 0.58335302 |
| 62 | MET | 0.56124362 |
| 63 | NME1 | 0.55441155 |
| 64 | NEK2 | 0.54864522 |
| 65 | CSNK1G1 | 0.54456944 |
| 66 | AKT3 | 0.53611634 |
| 67 | PRKG2 | 0.51922919 |
| 68 | ROCK1 | 0.51825125 |
| 69 | MST1R | 0.50161654 |
| 70 | CSNK1A1L | 0.48313238 |
| 71 | RPS6KA1 | 0.46269670 |
| 72 | GSK3B | 0.45836607 |
| 73 | OXSR1 | 0.44527516 |
| 74 | CDK2 | 0.43127708 |
| 75 | CDK1 | 0.41117068 |
| 76 | RPS6KA2 | 0.39204044 |
| 77 | PAK3 | 0.38870190 |
| 78 | PRKCZ | 0.38382652 |
| 79 | MKNK1 | 0.33873943 |
| 80 | SGK1 | 0.33643147 |
| 81 | MAPK1 | 0.32476599 |
| 82 | MAPK8 | 0.32289056 |
| 83 | PRKCE | 0.31301460 |
| 84 | PRKAA2 | 0.30875355 |
| 85 | EPHB2 | 0.30146154 |
| 86 | PRKACA | 0.29992978 |
| 87 | SRPK1 | 0.29809376 |
| 88 | MUSK | 0.29579040 |
| 89 | CAMK2A | 0.29547708 |
| 90 | TESK2 | 0.29545921 |
| 91 | TIE1 | 0.28904317 |
| 92 | CDK5 | 0.28820191 |
| 93 | CHEK1 | 0.28292228 |
| 94 | OBSCN | 0.27882414 |
| 95 | PRKCB | 0.27216326 |
| 96 | TAF1 | 0.27082858 |
| 97 | MAP2K4 | 0.26953777 |
| 98 | PRKACB | 0.26565310 |
| 99 | ERBB3 | 0.26511906 |
| 100 | BCR | 0.24826228 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.26931670 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.18108428 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.97865107 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 3.12528282 |
| 5 | Taste transduction_Homo sapiens_hsa04742 | 2.55993353 |
| 6 | Nicotine addiction_Homo sapiens_hsa05033 | 2.38714977 |
| 7 | Phototransduction_Homo sapiens_hsa04744 | 1.92692354 |
| 8 | RNA transport_Homo sapiens_hsa03013 | 1.72260977 |
| 9 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.68448748 |
| 10 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.63389243 |
| 11 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.58466965 |
| 12 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.49233316 |
| 13 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.46266771 |
| 14 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.42125832 |
| 15 | Huntingtons disease_Homo sapiens_hsa05016 | 1.35798871 |
| 16 | Basal transcription factors_Homo sapiens_hsa03022 | 1.35667107 |
| 17 | Morphine addiction_Homo sapiens_hsa05032 | 1.33856228 |
| 18 | GABAergic synapse_Homo sapiens_hsa04727 | 1.30448251 |
| 19 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.29130560 |
| 20 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.29025096 |
| 21 | Circadian entrainment_Homo sapiens_hsa04713 | 1.28332044 |
| 22 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.28156531 |
| 23 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.25535668 |
| 24 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.22831673 |
| 25 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.21802052 |
| 26 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.17739848 |
| 27 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.13339027 |
| 28 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.10912579 |
| 29 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.10022779 |
| 30 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.05218016 |
| 31 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.04951411 |
| 32 | Salivary secretion_Homo sapiens_hsa04970 | 0.99586218 |
| 33 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.99172106 |
| 34 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.97986551 |
| 35 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.97120743 |
| 36 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.95888279 |
| 37 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.95091357 |
| 38 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.93942732 |
| 39 | Alcoholism_Homo sapiens_hsa05034 | 0.90458033 |
| 40 | Purine metabolism_Homo sapiens_hsa00230 | 0.89456698 |
| 41 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.86795373 |
| 42 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.83717854 |
| 43 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.83432221 |
| 44 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.77825229 |
| 45 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.76651933 |
| 46 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.75625246 |
| 47 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.75253340 |
| 48 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.75158103 |
| 49 | Retinol metabolism_Homo sapiens_hsa00830 | 0.74123399 |
| 50 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.73511180 |
| 51 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.68192066 |
| 52 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.67686609 |
| 53 | Spliceosome_Homo sapiens_hsa03040 | 0.66599297 |
| 54 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.66541812 |
| 55 | ABC transporters_Homo sapiens_hsa02010 | 0.64752752 |
| 56 | Insulin secretion_Homo sapiens_hsa04911 | 0.63510589 |
| 57 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.62756478 |
| 58 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.62405333 |
| 59 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.60532557 |
| 60 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.59811246 |
| 61 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.58154730 |
| 62 | Parkinsons disease_Homo sapiens_hsa05012 | 0.57922634 |
| 63 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.57882626 |
| 64 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.57854368 |
| 65 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.57680156 |
| 66 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.57621127 |
| 67 | Tight junction_Homo sapiens_hsa04530 | 0.55992578 |
| 68 | Allograft rejection_Homo sapiens_hsa05330 | 0.55410750 |
| 69 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.54916154 |
| 70 | Base excision repair_Homo sapiens_hsa03410 | 0.52900075 |
| 71 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.52694452 |
| 72 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.51735521 |
| 73 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.51585515 |
| 74 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.51413052 |
| 75 | Homologous recombination_Homo sapiens_hsa03440 | 0.50416266 |
| 76 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.50219665 |
| 77 | RNA polymerase_Homo sapiens_hsa03020 | 0.49104677 |
| 78 | RNA degradation_Homo sapiens_hsa03018 | 0.48280473 |
| 79 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.47488154 |
| 80 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.46328234 |
| 81 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.45800107 |
| 82 | Long-term depression_Homo sapiens_hsa04730 | 0.44980748 |
| 83 | Metabolic pathways_Homo sapiens_hsa01100 | 0.44788102 |
| 84 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.44121014 |
| 85 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.43482642 |
| 86 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.42390345 |
| 87 | Axon guidance_Homo sapiens_hsa04360 | 0.42153548 |
| 88 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.41176152 |
| 89 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.40186947 |
| 90 | Peroxisome_Homo sapiens_hsa04146 | 0.40164106 |
| 91 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.40083848 |
| 92 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.38282378 |
| 93 | Gap junction_Homo sapiens_hsa04540 | 0.35757667 |
| 94 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.35710967 |
| 95 | Cocaine addiction_Homo sapiens_hsa05030 | 0.35433504 |
| 96 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.35336785 |
| 97 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.35212188 |
| 98 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.33958761 |
| 99 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.32901889 |
| 100 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.31745306 |

