

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | response to pheromone (GO:0019236) | 9.83323834 |
| 2 | chromosome condensation (GO:0030261) | 8.92647881 |
| 3 | plasma membrane fusion (GO:0045026) | 8.90669220 |
| 4 | DNA packaging (GO:0006323) | 8.65131785 |
| 5 | sperm capacitation (GO:0048240) | 8.37697007 |
| 6 | microtubule depolymerization (GO:0007019) | 8.32737975 |
| 7 | single strand break repair (GO:0000012) | 8.18099592 |
| 8 | spermatid nucleus differentiation (GO:0007289) | 8.01635575 |
| 9 | spermatid development (GO:0007286) | 7.71303998 |
| 10 | sperm-egg recognition (GO:0035036) | 7.66789197 |
| 11 | binding of sperm to zona pellucida (GO:0007339) | 7.18185029 |
| 12 | protein polyglutamylation (GO:0018095) | 7.15504303 |
| 13 | microtubule polymerization or depolymerization (GO:0031109) | 7.06930866 |
| 14 | rRNA methylation (GO:0031167) | 6.81661271 |
| 15 | multicellular organism reproduction (GO:0032504) | 6.76944846 |
| 16 | protein targeting to Golgi (GO:0000042) | 6.63100807 |
| 17 | reproduction (GO:0000003) | 6.40666817 |
| 18 | calcium ion-dependent exocytosis (GO:0017156) | 6.39814530 |
| 19 | establishment of protein localization to Golgi (GO:0072600) | 6.37988933 |
| 20 | sexual reproduction (GO:0019953) | 6.30114209 |
| 21 | cell-cell recognition (GO:0009988) | 6.25589473 |
| 22 | axonemal dynein complex assembly (GO:0070286) | 6.24663138 |
| 23 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.19604556 |
| 24 | spermatogenesis (GO:0007283) | 6.17313398 |
| 25 | male gamete generation (GO:0048232) | 6.15342277 |
| 26 | rRNA modification (GO:0000154) | 5.90943195 |
| 27 | centriole replication (GO:0007099) | 5.85240137 |
| 28 | negative regulation of inclusion body assembly (GO:0090084) | 5.79085140 |
| 29 | regulation of cilium movement (GO:0003352) | 5.66447526 |
| 30 | gamete generation (GO:0007276) | 5.65995763 |
| 31 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.53693288 |
| 32 | cellular ketone body metabolic process (GO:0046950) | 5.34751787 |
| 33 | microtubule severing (GO:0051013) | 5.19092575 |
| 34 | regulation of centriole replication (GO:0046599) | 5.17768939 |
| 35 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.08844908 |
| 36 | centriole assembly (GO:0098534) | 5.01088153 |
| 37 | regulation of Rab GTPase activity (GO:0032313) | 4.98289150 |
| 38 | positive regulation of Rab GTPase activity (GO:0032851) | 4.98289150 |
| 39 | single fertilization (GO:0007338) | 4.84668917 |
| 40 | protein localization to Golgi apparatus (GO:0034067) | 4.76675233 |
| 41 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.73488645 |
| 42 | ketone body metabolic process (GO:1902224) | 4.70769143 |
| 43 | motile cilium assembly (GO:0044458) | 4.63720596 |
| 44 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.58659453 |
| 45 | RNA destabilization (GO:0050779) | 4.57563016 |
| 46 | chromatin silencing (GO:0006342) | 4.53859302 |
| 47 | multicellular organismal reproductive process (GO:0048609) | 4.47911486 |
| 48 | seminiferous tubule development (GO:0072520) | 4.47890435 |
| 49 | germ cell development (GO:0007281) | 4.42501474 |
| 50 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.40837806 |
| 51 | coenzyme catabolic process (GO:0009109) | 4.36244704 |
| 52 | regulation of inclusion body assembly (GO:0090083) | 4.34760999 |
| 53 | epithelial cilium movement (GO:0003351) | 4.34107554 |
| 54 | glycerol ether metabolic process (GO:0006662) | 4.25417551 |
| 55 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.22876573 |
| 56 | fertilization (GO:0009566) | 4.21461083 |
| 57 | cell wall macromolecule catabolic process (GO:0016998) | 4.20879908 |
| 58 | cell wall macromolecule metabolic process (GO:0044036) | 4.12341258 |
| 59 | polyamine biosynthetic process (GO:0006596) | 3.96740700 |
| 60 | nucleus organization (GO:0006997) | 3.94273857 |
| 61 | ether metabolic process (GO:0018904) | 3.92145986 |
| 62 | cilium movement (GO:0003341) | 3.72609968 |
| 63 | multicellular organismal movement (GO:0050879) | 3.68132370 |
| 64 | musculoskeletal movement (GO:0050881) | 3.68132370 |
| 65 | microtubule nucleation (GO:0007020) | 3.53125041 |
| 66 | organic cation transport (GO:0015695) | 3.50757828 |
| 67 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.45434979 |
| 68 | regulation of microtubule-based movement (GO:0060632) | 3.44653789 |
| 69 | glomerular visceral epithelial cell development (GO:0072015) | 3.32762895 |
| 70 | DNA methylation involved in gamete generation (GO:0043046) | 3.31678188 |
| 71 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.24458547 |
| 72 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.23890896 |
| 73 | piRNA metabolic process (GO:0034587) | 3.21299646 |
| 74 | nucleosome disassembly (GO:0006337) | 3.17710414 |
| 75 | protein-DNA complex disassembly (GO:0032986) | 3.17710414 |
| 76 | glomerular epithelial cell development (GO:0072310) | 3.16684876 |
| 77 | cerebral cortex neuron differentiation (GO:0021895) | 3.16151349 |
| 78 | male meiosis I (GO:0007141) | 3.15400850 |
| 79 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.08616592 |
| 80 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.02712593 |
| 81 | cell recognition (GO:0008037) | 3.02679052 |
| 82 | male meiosis (GO:0007140) | 3.02609579 |
| 83 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.98798486 |
| 84 | protein depolymerization (GO:0051261) | 2.98467445 |
| 85 | positive regulation of endothelial cell differentiation (GO:0045603) | 2.89823981 |
| 86 | multicellular organismal development (GO:0007275) | 2.87890931 |
| 87 | response to acidic pH (GO:0010447) | 2.83552892 |
| 88 | regulation of interleukin-13 production (GO:0032656) | 2.83404562 |
| 89 | axoneme assembly (GO:0035082) | 2.81706478 |
| 90 | histone H3-K9 demethylation (GO:0033169) | 2.80363610 |
| 91 | intra-Golgi vesicle-mediated transport (GO:0006891) | 2.80321263 |
| 92 | DNA conformation change (GO:0071103) | 2.79731509 |
| 93 | Golgi to endosome transport (GO:0006895) | 2.78909574 |
| 94 | homeostasis of number of cells within a tissue (GO:0048873) | 2.78493481 |
| 95 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.75721464 |
| 96 | NAD biosynthetic process (GO:0009435) | 2.75495977 |
| 97 | cellular biogenic amine biosynthetic process (GO:0042401) | 2.74373543 |
| 98 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.7136850 |
| 99 | acrosome reaction (GO:0007340) | 11.4899291 |
| 100 | sperm motility (GO:0030317) | 11.4166325 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.67978069 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.89976194 |
| 3 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.37162870 |
| 4 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.59527573 |
| 5 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.58043765 |
| 6 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.42394550 |
| 7 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.42394550 |
| 8 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.38778847 |
| 9 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.38778847 |
| 10 | FUS_26573619_Chip-Seq_HEK293_Human | 2.31532865 |
| 11 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.26231056 |
| 12 | ERA_21632823_ChIP-Seq_H3396_Human | 2.14406785 |
| 13 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.02361267 |
| 14 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.99665960 |
| 15 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.96360352 |
| 16 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.96288642 |
| 17 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.93320545 |
| 18 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.91516348 |
| 19 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.91077940 |
| 20 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.90924695 |
| 21 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.90573021 |
| 22 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.88541963 |
| 23 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.83642333 |
| 24 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.82140366 |
| 25 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.81595950 |
| 26 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.78176943 |
| 27 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.76336472 |
| 28 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.71099857 |
| 29 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.68446193 |
| 30 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.67398033 |
| 31 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.59804160 |
| 32 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.59265382 |
| 33 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.58287279 |
| 34 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.58084986 |
| 35 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.56286791 |
| 36 | P300_19829295_ChIP-Seq_ESCs_Human | 1.55394998 |
| 37 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.54483436 |
| 38 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.53066179 |
| 39 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.51445550 |
| 40 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.50498989 |
| 41 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.49916276 |
| 42 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.49378250 |
| 43 | AR_25329375_ChIP-Seq_VCAP_Human | 1.46561588 |
| 44 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.46245841 |
| 45 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.45792402 |
| 46 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.43439505 |
| 47 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.43147565 |
| 48 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.42518231 |
| 49 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.42109704 |
| 50 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.40779068 |
| 51 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.39035947 |
| 52 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.38799557 |
| 53 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.38289478 |
| 54 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.38241253 |
| 55 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.37572339 |
| 56 | P68_20966046_ChIP-Seq_HELA_Human | 1.35892126 |
| 57 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.35823634 |
| 58 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.35467492 |
| 59 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.34141016 |
| 60 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.33457079 |
| 61 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.32965761 |
| 62 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.32564673 |
| 63 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.31159343 |
| 64 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.30932261 |
| 65 | VDR_22108803_ChIP-Seq_LS180_Human | 1.30062412 |
| 66 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.29574219 |
| 67 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.28567691 |
| 68 | P300_27268052_Chip-Seq_Bcells_Human | 1.27744627 |
| 69 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.27392157 |
| 70 | NFYB_21822215_ChIP-Seq_K562_Human | 1.26960025 |
| 71 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.26509116 |
| 72 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.26471465 |
| 73 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.25356487 |
| 74 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.25149755 |
| 75 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.23235832 |
| 76 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.20742176 |
| 77 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.20391389 |
| 78 | TBL1_22424771_ChIP-Seq_293T_Human | 1.19896369 |
| 79 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.16593575 |
| 80 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.15799739 |
| 81 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.15601186 |
| 82 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.14836642 |
| 83 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.14222496 |
| 84 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.13921139 |
| 85 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.13342157 |
| 86 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.13342157 |
| 87 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.13070364 |
| 88 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.12445029 |
| 89 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.12263073 |
| 90 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.12030055 |
| 91 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.11079014 |
| 92 | NCOR_22424771_ChIP-Seq_293T_Human | 1.09730706 |
| 93 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.09423185 |
| 94 | NFYA_21822215_ChIP-Seq_K562_Human | 1.08140511 |
| 95 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.06654848 |
| 96 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.06654848 |
| 97 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.04531411 |
| 98 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.04317246 |
| 99 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.03632587 |
| 100 | STAT3_23295773_ChIP-Seq_U87_Human | 1.03511988 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005377_hearing/vestibular/ear_phenot | 4.78890588 |
| 2 | MP0003878_abnormal_ear_physiology | 4.78890588 |
| 3 | MP0003698_abnormal_male_reproductive | 4.19761174 |
| 4 | MP0005670_abnormal_white_adipose | 3.91796849 |
| 5 | MP0001929_abnormal_gametogenesis | 3.65339105 |
| 6 | MP0001348_abnormal_lacrimal_gland | 3.13265488 |
| 7 | MP0003718_maternal_effect | 2.72640619 |
| 8 | MP0000678_abnormal_parathyroid_gland | 2.60529623 |
| 9 | MP0003646_muscle_fatigue | 2.36957200 |
| 10 | MP0002161_abnormal_fertility/fecundity | 2.29121768 |
| 11 | MP0003011_delayed_dark_adaptation | 2.26837184 |
| 12 | MP0002132_abnormal_respiratory_system | 2.04023122 |
| 13 | MP0005410_abnormal_fertilization | 11.0659449 |
| 14 | MP0005379_endocrine/exocrine_gland_phen | 1.88098304 |
| 15 | MP0008877_abnormal_DNA_methylation | 1.87473782 |
| 16 | MP0002249_abnormal_larynx_morphology | 1.82392978 |
| 17 | MP0002210_abnormal_sex_determination | 1.71870851 |
| 18 | MP0001486_abnormal_startle_reflex | 1.70806162 |
| 19 | MP0005083_abnormal_biliary_tract | 1.63443119 |
| 20 | MP0002234_abnormal_pharynx_morphology | 1.59061101 |
| 21 | MP0005423_abnormal_somatic_nervous | 1.53658572 |
| 22 | MP0001968_abnormal_touch/_nociception | 1.47952091 |
| 23 | MP0001485_abnormal_pinna_reflex | 1.44381107 |
| 24 | MP0001145_abnormal_male_reproductive | 1.42708760 |
| 25 | MP0002282_abnormal_trachea_morphology | 1.40001036 |
| 26 | MP0000653_abnormal_sex_gland | 1.37240622 |
| 27 | MP0002822_catalepsy | 1.36432233 |
| 28 | MP0009053_abnormal_anal_canal | 1.25472270 |
| 29 | MP0004859_abnormal_synaptic_plasticity | 1.20129510 |
| 30 | MP0000049_abnormal_middle_ear | 1.20001746 |
| 31 | MP0005248_abnormal_Harderian_gland | 1.19744232 |
| 32 | MP0002138_abnormal_hepatobiliary_system | 1.19579081 |
| 33 | MP0009697_abnormal_copulation | 1.17490119 |
| 34 | MP0001963_abnormal_hearing_physiology | 1.17235246 |
| 35 | MP0006292_abnormal_olfactory_placode | 1.16918303 |
| 36 | MP0004742_abnormal_vestibular_system | 1.13423750 |
| 37 | MP0000026_abnormal_inner_ear | 1.12050718 |
| 38 | MP0005253_abnormal_eye_physiology | 1.11303257 |
| 39 | MP0005310_abnormal_salivary_gland | 1.11024072 |
| 40 | MP0002127_abnormal_cardiovascular_syste | 1.07541534 |
| 41 | MP0002735_abnormal_chemical_nociception | 1.07526814 |
| 42 | MP0005551_abnormal_eye_electrophysiolog | 1.04640792 |
| 43 | MP0008789_abnormal_olfactory_epithelium | 1.03183213 |
| 44 | MP0005395_other_phenotype | 1.00403275 |
| 45 | MP0005167_abnormal_blood-brain_barrier | 0.99117132 |
| 46 | MP0001984_abnormal_olfaction | 0.97523958 |
| 47 | MP0003880_abnormal_central_pattern | 0.96114517 |
| 48 | MP0002229_neurodegeneration | 0.93685818 |
| 49 | MP0001765_abnormal_ion_homeostasis | 0.91537903 |
| 50 | MP0002733_abnormal_thermal_nociception | 0.90780905 |
| 51 | MP0000955_abnormal_spinal_cord | 0.89661922 |
| 52 | MP0003879_abnormal_hair_cell | 0.88991420 |
| 53 | MP0004510_myositis | 0.88404885 |
| 54 | MP0002067_abnormal_sensory_capabilities | 0.85303709 |
| 55 | MP0005394_taste/olfaction_phenotype | 0.83622563 |
| 56 | MP0005499_abnormal_olfactory_system | 0.83622563 |
| 57 | MP0002653_abnormal_ependyma_morphology | 0.82427801 |
| 58 | MP0005084_abnormal_gallbladder_morpholo | 0.81531871 |
| 59 | MP0002736_abnormal_nociception_after | 0.81363365 |
| 60 | MP0001529_abnormal_vocalization | 0.80641596 |
| 61 | MP0004085_abnormal_heartbeat | 0.80510755 |
| 62 | MP0008995_early_reproductive_senescence | 0.80021112 |
| 63 | MP0000534_abnormal_ureter_morphology | 0.79237029 |
| 64 | MP0002557_abnormal_social/conspecific_i | 0.78497621 |
| 65 | MP0001905_abnormal_dopamine_level | 0.75452569 |
| 66 | MP0008569_lethality_at_weaning | 0.74887272 |
| 67 | MP0002572_abnormal_emotion/affect_behav | 0.73120090 |
| 68 | MP0005636_abnormal_mineral_homeostasis | 0.72568103 |
| 69 | MP0009745_abnormal_behavioral_response | 0.70797827 |
| 70 | MP0003119_abnormal_digestive_system | 0.68830564 |
| 71 | MP0002272_abnormal_nervous_system | 0.68468373 |
| 72 | MP0005085_abnormal_gallbladder_physiolo | 0.67231720 |
| 73 | MP0002734_abnormal_mechanical_nocicepti | 0.67130377 |
| 74 | MP0004270_analgesia | 0.64278616 |
| 75 | MP0003137_abnormal_impulse_conducting | 0.64270088 |
| 76 | MP0006276_abnormal_autonomic_nervous | 0.64169748 |
| 77 | MP0002102_abnormal_ear_morphology | 0.62869241 |
| 78 | MP0002254_reproductive_system_inflammat | 0.62848739 |
| 79 | MP0000681_abnormal_thyroid_gland | 0.59514498 |
| 80 | MP0001970_abnormal_pain_threshold | 0.59397741 |
| 81 | MP0000516_abnormal_urinary_system | 0.55983042 |
| 82 | MP0005367_renal/urinary_system_phenotyp | 0.55983042 |
| 83 | MP0005391_vision/eye_phenotype | 0.54084346 |
| 84 | MP0005451_abnormal_body_composition | 0.52705140 |
| 85 | MP0003077_abnormal_cell_cycle | 0.51605392 |
| 86 | MP0009115_abnormal_fat_cell | 0.51284423 |
| 87 | MP0004084_abnormal_cardiac_muscle | 0.49114317 |
| 88 | MP0003635_abnormal_synaptic_transmissio | 0.48475423 |
| 89 | MP0005645_abnormal_hypothalamus_physiol | 0.47895195 |
| 90 | MP0001270_distended_abdomen | 0.47493627 |
| 91 | MP0002928_abnormal_bile_duct | 0.46975839 |
| 92 | MP0002184_abnormal_innervation | 0.46706193 |
| 93 | MP0002752_abnormal_somatic_nervous | 0.46351013 |
| 94 | MP0004484_altered_response_of | 0.46315656 |
| 95 | MP0002882_abnormal_neuron_morphology | 0.44914849 |
| 96 | MP0001501_abnormal_sleep_pattern | 0.44843105 |
| 97 | MP0001293_anophthalmia | 0.44810586 |
| 98 | MP0005332_abnormal_amino_acid | 0.40060277 |
| 99 | MP0003693_abnormal_embryo_hatching | 0.39321198 |
| 100 | MP0005365_abnormal_bile_salt | 0.38509390 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.02858446 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.78887333 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 5.78887333 |
| 4 | Attenuation of retinal blood vessels (HP:0007843) | 5.06558128 |
| 5 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.72098952 |
| 6 | Asymmetric septal hypertrophy (HP:0001670) | 4.66961400 |
| 7 | Tubulointerstitial nephritis (HP:0001970) | 4.63952483 |
| 8 | Abnormal ciliary motility (HP:0012262) | 4.58308838 |
| 9 | Chronic hepatic failure (HP:0100626) | 4.57534321 |
| 10 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.48336612 |
| 11 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.29187761 |
| 12 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.29187761 |
| 13 | Bell-shaped thorax (HP:0001591) | 4.18986350 |
| 14 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.96115899 |
| 15 | Resting tremor (HP:0002322) | 3.85630482 |
| 16 | Male infertility (HP:0003251) | 3.85404899 |
| 17 | Abnormality of macular pigmentation (HP:0008002) | 3.81523574 |
| 18 | Infertility (HP:0000789) | 3.80950467 |
| 19 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.80207208 |
| 20 | Potter facies (HP:0002009) | 3.70952054 |
| 21 | Facial shape deformation (HP:0011334) | 3.70952054 |
| 22 | Enlarged epiphyses (HP:0010580) | 3.54304776 |
| 23 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.53912380 |
| 24 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.53489059 |
| 25 | Hypoplastic ischia (HP:0003175) | 3.50439548 |
| 26 | Hyperkalemia (HP:0002153) | 3.38726235 |
| 27 | Nephronophthisis (HP:0000090) | 3.35359984 |
| 28 | Impulsivity (HP:0100710) | 3.33220857 |
| 29 | Nasal polyposis (HP:0100582) | 3.29955430 |
| 30 | Abnormal spermatogenesis (HP:0008669) | 3.25321064 |
| 31 | Cone-rod dystrophy (HP:0000548) | 3.20597511 |
| 32 | Azoospermia (HP:0000027) | 3.15176165 |
| 33 | Abnormality of the ischium (HP:0003174) | 3.09237826 |
| 34 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.08085317 |
| 35 | Abnormality of the renal medulla (HP:0100957) | 2.91046003 |
| 36 | Stage 5 chronic kidney disease (HP:0003774) | 2.84195371 |
| 37 | Abnormal urine output (HP:0012590) | 2.81225448 |
| 38 | Rhinitis (HP:0012384) | 2.73099605 |
| 39 | Generalized aminoaciduria (HP:0002909) | 2.73079914 |
| 40 | Hypoplasia of the thymus (HP:0000778) | 2.67446021 |
| 41 | Abnormality of dental color (HP:0011073) | 2.66915952 |
| 42 | Amelogenesis imperfecta (HP:0000705) | 2.65479953 |
| 43 | Abnormal drinking behavior (HP:0030082) | 2.60761201 |
| 44 | Polydipsia (HP:0001959) | 2.60761201 |
| 45 | Abnormality of the nasal mucosa (HP:0000433) | 2.57334219 |
| 46 | Renal dysplasia (HP:0000110) | 2.53120332 |
| 47 | Tubulointerstitial abnormality (HP:0001969) | 2.52066175 |
| 48 | Optic nerve hypoplasia (HP:0000609) | 2.51550402 |
| 49 | Progressive cerebellar ataxia (HP:0002073) | 2.47594866 |
| 50 | Abnormality of the aortic arch (HP:0012303) | 2.45700599 |
| 51 | Menstrual irregularities (HP:0000858) | 2.42699736 |
| 52 | Postural instability (HP:0002172) | 2.42067645 |
| 53 | Polyuria (HP:0000103) | 2.41362469 |
| 54 | Unilateral renal agenesis (HP:0000122) | 2.40412725 |
| 55 | Abnormality of renal excretion (HP:0011036) | 2.40304642 |
| 56 | Hypophosphatemic rickets (HP:0004912) | 2.39855329 |
| 57 | Truncal obesity (HP:0001956) | 2.37534299 |
| 58 | Congenital malformation of the right heart (HP:0011723) | 2.35904247 |
| 59 | Double outlet right ventricle (HP:0001719) | 2.35904247 |
| 60 | Progressive sensorineural hearing impairment (HP:0000408) | 2.34823629 |
| 61 | Hypoalphalipoproteinemia (HP:0003233) | 2.33345168 |
| 62 | Portal hypertension (HP:0001409) | 2.32110324 |
| 63 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.29411631 |
| 64 | Osteomalacia (HP:0002749) | 2.25864860 |
| 65 | Abnormality of the costochondral junction (HP:0000919) | 2.19976192 |
| 66 | Renal Fanconi syndrome (HP:0001994) | 2.19815928 |
| 67 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.16921976 |
| 68 | Pancreatic fibrosis (HP:0100732) | 2.16254069 |
| 69 | Abnormality of potassium homeostasis (HP:0011042) | 2.15863595 |
| 70 | Upper limb muscle weakness (HP:0003484) | 2.14812584 |
| 71 | Intellectual disability, moderate (HP:0002342) | 2.12611626 |
| 72 | Abnormality of the hepatic vasculature (HP:0006707) | 2.10581398 |
| 73 | Pendular nystagmus (HP:0012043) | 2.08702865 |
| 74 | Occipital encephalocele (HP:0002085) | 2.05217302 |
| 75 | Widely patent fontanelles and sutures (HP:0004492) | 2.03929004 |
| 76 | Pancreatic cysts (HP:0001737) | 2.02688877 |
| 77 | Decreased central vision (HP:0007663) | 1.98420864 |
| 78 | Absent epiphyses (HP:0010577) | 1.97938275 |
| 79 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.97938275 |
| 80 | Abnormality of the parathyroid morphology (HP:0011766) | 1.96547174 |
| 81 | Chronic bronchitis (HP:0004469) | 1.96024379 |
| 82 | Renovascular hypertension (HP:0100817) | 1.94775175 |
| 83 | Muscle fiber atrophy (HP:0100295) | 1.94582887 |
| 84 | Abnormality of the pubic bones (HP:0003172) | 1.94237233 |
| 85 | Ventricular tachycardia (HP:0004756) | 1.94101195 |
| 86 | Failure to thrive in infancy (HP:0001531) | 1.86606639 |
| 87 | Tubular atrophy (HP:0000092) | 1.86020729 |
| 88 | Spastic paraparesis (HP:0002313) | 1.85809658 |
| 89 | Bronchiectasis (HP:0002110) | 1.83135398 |
| 90 | Peripheral hypomyelination (HP:0007182) | 1.82776439 |
| 91 | Hyperuricemia (HP:0002149) | 1.81899794 |
| 92 | Increased purine levels (HP:0004368) | 1.81899794 |
| 93 | Retinal dysplasia (HP:0007973) | 1.79858596 |
| 94 | Glycosuria (HP:0003076) | 1.78616532 |
| 95 | Abnormality of urine glucose concentration (HP:0011016) | 1.78616532 |
| 96 | Myokymia (HP:0002411) | 1.77004302 |
| 97 | Horizontal nystagmus (HP:0000666) | 1.73722817 |
| 98 | Hyponatremia (HP:0002902) | 1.73402310 |
| 99 | Mixed hearing impairment (HP:0000410) | 1.72802484 |
| 100 | Type 2 muscle fiber atrophy (HP:0003554) | 1.71617275 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.60884404 |
| 2 | TESK1 | 5.43814606 |
| 3 | MAP4K2 | 4.49821531 |
| 4 | DDR2 | 4.49615189 |
| 5 | INSRR | 4.14378736 |
| 6 | PLK2 | 3.79500149 |
| 7 | BRD4 | 3.02564611 |
| 8 | PNCK | 2.58163420 |
| 9 | STK38 | 2.31892060 |
| 10 | STK38L | 2.29270386 |
| 11 | PIK3CG | 1.89584124 |
| 12 | CAMK1G | 1.86857562 |
| 13 | MAPK15 | 1.71937556 |
| 14 | DYRK1B | 1.64555014 |
| 15 | PRKD3 | 1.62225420 |
| 16 | MAP3K9 | 1.36641567 |
| 17 | WNK1 | 1.29120376 |
| 18 | PTK2B | 1.25777316 |
| 19 | PDK1 | 1.17946025 |
| 20 | CDK7 | 1.16903420 |
| 21 | ARAF | 1.15374232 |
| 22 | PDPK1 | 1.11513343 |
| 23 | MST1R | 1.09558122 |
| 24 | MAP3K4 | 1.03690320 |
| 25 | TRIM28 | 0.99470606 |
| 26 | MAP2K7 | 0.90506829 |
| 27 | NEK6 | 0.89826606 |
| 28 | MARK1 | 0.88359291 |
| 29 | BRAF | 0.87945221 |
| 30 | PRKG2 | 0.77626822 |
| 31 | ZAK | 0.74569056 |
| 32 | PIM2 | 0.73045841 |
| 33 | KSR2 | 0.72692119 |
| 34 | TYRO3 | 0.72048019 |
| 35 | ADRBK2 | 0.64933415 |
| 36 | RPS6KA2 | 0.59836861 |
| 37 | UHMK1 | 0.59655023 |
| 38 | PRKG1 | 0.59474724 |
| 39 | BMPR1B | 0.59458482 |
| 40 | SRPK1 | 0.59066502 |
| 41 | CDK12 | 0.58034334 |
| 42 | TESK2 | 0.56366788 |
| 43 | PRKAA2 | 0.56306354 |
| 44 | PRKCG | 0.54906012 |
| 45 | RPS6KA1 | 0.54410001 |
| 46 | SIK2 | 0.54182509 |
| 47 | LATS2 | 0.53191412 |
| 48 | CAMK1D | 0.51579955 |
| 49 | CAMK1 | 0.50695273 |
| 50 | CAMK4 | 0.49008081 |
| 51 | TAOK3 | 0.48908342 |
| 52 | CDK3 | 0.48161668 |
| 53 | TIE1 | 0.47592164 |
| 54 | AKT3 | 0.47586111 |
| 55 | DYRK3 | 0.46086730 |
| 56 | CDK2 | 0.43315480 |
| 57 | MAP3K7 | 0.40960215 |
| 58 | MAP2K2 | 0.40945351 |
| 59 | EPHA4 | 0.38850756 |
| 60 | GSK3B | 0.38104066 |
| 61 | NTRK3 | 0.37742976 |
| 62 | CDK1 | 0.37305830 |
| 63 | PKN1 | 0.36671747 |
| 64 | PRKCE | 0.36164061 |
| 65 | LMTK2 | 0.36036693 |
| 66 | ROCK1 | 0.33969813 |
| 67 | OXSR1 | 0.33054033 |
| 68 | VRK1 | 0.32835204 |
| 69 | WNK3 | 0.32827053 |
| 70 | GRK1 | 0.32552367 |
| 71 | DYRK2 | 0.32550653 |
| 72 | RPS6KA6 | 0.31490128 |
| 73 | CHEK1 | 0.31106732 |
| 74 | RPS6KL1 | 0.31105982 |
| 75 | RPS6KC1 | 0.31105982 |
| 76 | PRKCZ | 0.30920030 |
| 77 | MUSK | 0.30212615 |
| 78 | WNK4 | 0.30180631 |
| 79 | MAPK1 | 0.29802256 |
| 80 | MAP3K8 | 0.28730231 |
| 81 | BCR | 0.28102161 |
| 82 | MAP3K11 | 0.27993418 |
| 83 | PRKCB | 0.24721732 |
| 84 | PLK1 | 0.24286825 |
| 85 | BRSK1 | 0.23164269 |
| 86 | MAPK8 | 0.22419470 |
| 87 | FRK | 0.22174394 |
| 88 | MAPK10 | 0.20494777 |
| 89 | NUAK1 | 0.20142006 |
| 90 | CDK19 | 0.18848825 |
| 91 | STK39 | 0.18753319 |
| 92 | SGK223 | 0.18716773 |
| 93 | SGK494 | 0.18716773 |
| 94 | MAP3K2 | 0.18607987 |
| 95 | MAPK14 | 0.18018403 |
| 96 | NME1 | 0.17865548 |
| 97 | MAPK11 | 0.16037793 |
| 98 | PRKACA | 0.15549942 |
| 99 | CDK4 | 0.14111897 |
| 100 | MET | 0.13629574 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.91424990 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.17839208 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 4.00900225 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 3.25574826 |
| 5 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.36545250 |
| 6 | RNA transport_Homo sapiens_hsa03013 | 2.12049956 |
| 7 | Taste transduction_Homo sapiens_hsa04742 | 1.80199016 |
| 8 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.79224836 |
| 9 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.69447251 |
| 10 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.64234734 |
| 11 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.57790337 |
| 12 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.56508561 |
| 13 | Phototransduction_Homo sapiens_hsa04744 | 1.55426996 |
| 14 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.52359737 |
| 15 | Nicotine addiction_Homo sapiens_hsa05033 | 1.50356909 |
| 16 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.46774742 |
| 17 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.41908857 |
| 18 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.37904916 |
| 19 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.32475218 |
| 20 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.32438966 |
| 21 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.26416111 |
| 22 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.18440905 |
| 23 | Allograft rejection_Homo sapiens_hsa05330 | 1.17758508 |
| 24 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.13777458 |
| 25 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.11379648 |
| 26 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.07564344 |
| 27 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 1.07210965 |
| 28 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.06643106 |
| 29 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.05929716 |
| 30 | Morphine addiction_Homo sapiens_hsa05032 | 1.05710469 |
| 31 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.03711013 |
| 32 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.01232795 |
| 33 | Basal transcription factors_Homo sapiens_hsa03022 | 0.98510207 |
| 34 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.98215957 |
| 35 | Salivary secretion_Homo sapiens_hsa04970 | 0.96791973 |
| 36 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.96789097 |
| 37 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.96162452 |
| 38 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.92342405 |
| 39 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.90067402 |
| 40 | Huntingtons disease_Homo sapiens_hsa05016 | 0.89875383 |
| 41 | Purine metabolism_Homo sapiens_hsa00230 | 0.88885486 |
| 42 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.88086038 |
| 43 | Retinol metabolism_Homo sapiens_hsa00830 | 0.84542026 |
| 44 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.83994812 |
| 45 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.83696582 |
| 46 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.80740901 |
| 47 | ABC transporters_Homo sapiens_hsa02010 | 0.78938727 |
| 48 | Viral myocarditis_Homo sapiens_hsa05416 | 0.78918855 |
| 49 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.78794327 |
| 50 | Circadian entrainment_Homo sapiens_hsa04713 | 0.76219013 |
| 51 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.76217932 |
| 52 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.76095738 |
| 53 | Endocytosis_Homo sapiens_hsa04144 | 0.76085076 |
| 54 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.72688497 |
| 55 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.71614306 |
| 56 | Sulfur relay system_Homo sapiens_hsa04122 | 0.70832136 |
| 57 | Base excision repair_Homo sapiens_hsa03410 | 0.70249839 |
| 58 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.67691476 |
| 59 | GABAergic synapse_Homo sapiens_hsa04727 | 0.64669233 |
| 60 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.64118246 |
| 61 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.63407237 |
| 62 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.62989668 |
| 63 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.62200136 |
| 64 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.61156973 |
| 65 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.59350870 |
| 66 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.58895420 |
| 67 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.58532698 |
| 68 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.57132722 |
| 69 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.57117335 |
| 70 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.55393378 |
| 71 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.54573842 |
| 72 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.54033158 |
| 73 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.50983499 |
| 74 | Alcoholism_Homo sapiens_hsa05034 | 0.48178028 |
| 75 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.48140747 |
| 76 | Bile secretion_Homo sapiens_hsa04976 | 0.45870637 |
| 77 | Metabolic pathways_Homo sapiens_hsa01100 | 0.45079551 |
| 78 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.44764958 |
| 79 | RNA polymerase_Homo sapiens_hsa03020 | 0.43412140 |
| 80 | Insulin secretion_Homo sapiens_hsa04911 | 0.43349618 |
| 81 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.41400548 |
| 82 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.39287633 |
| 83 | Peroxisome_Homo sapiens_hsa04146 | 0.38885220 |
| 84 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.38742597 |
| 85 | Carbon metabolism_Homo sapiens_hsa01200 | 0.37750704 |
| 86 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.36735239 |
| 87 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.36172314 |
| 88 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.33347463 |
| 89 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.32863243 |
| 90 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.32608602 |
| 91 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.31579952 |
| 92 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.30771567 |
| 93 | Tight junction_Homo sapiens_hsa04530 | 0.29779664 |
| 94 | Renin secretion_Homo sapiens_hsa04924 | 0.28338845 |
| 95 | Influenza A_Homo sapiens_hsa05164 | 0.25487039 |
| 96 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.25417084 |
| 97 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.25030793 |
| 98 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.23466684 |
| 99 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.19113186 |
| 100 | Homologous recombination_Homo sapiens_hsa03440 | 0.19035521 |

