

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | response to pheromone (GO:0019236) | 9.86483321 |
| 2 | chromosome condensation (GO:0030261) | 8.45165478 |
| 3 | single strand break repair (GO:0000012) | 8.40285920 |
| 4 | DNA packaging (GO:0006323) | 8.11471215 |
| 5 | sperm capacitation (GO:0048240) | 8.02687731 |
| 6 | microtubule depolymerization (GO:0007019) | 7.72873528 |
| 7 | plasma membrane fusion (GO:0045026) | 7.66277681 |
| 8 | spermatid nucleus differentiation (GO:0007289) | 7.56422918 |
| 9 | spermatid development (GO:0007286) | 7.53388939 |
| 10 | sperm-egg recognition (GO:0035036) | 7.17594368 |
| 11 | protein polyglutamylation (GO:0018095) | 6.86775790 |
| 12 | protein targeting to Golgi (GO:0000042) | 6.78937452 |
| 13 | multicellular organism reproduction (GO:0032504) | 6.76210320 |
| 14 | establishment of protein localization to Golgi (GO:0072600) | 6.59752411 |
| 15 | binding of sperm to zona pellucida (GO:0007339) | 6.57781811 |
| 16 | microtubule polymerization or depolymerization (GO:0031109) | 6.43472166 |
| 17 | calcium ion-dependent exocytosis (GO:0017156) | 6.42088757 |
| 18 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.37711904 |
| 19 | reproduction (GO:0000003) | 6.33579326 |
| 20 | axonemal dynein complex assembly (GO:0070286) | 6.32534985 |
| 21 | rRNA methylation (GO:0031167) | 6.28352239 |
| 22 | sexual reproduction (GO:0019953) | 6.02138298 |
| 23 | cell-cell recognition (GO:0009988) | 5.94623799 |
| 24 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.82082056 |
| 25 | spermatogenesis (GO:0007283) | 5.68372620 |
| 26 | male gamete generation (GO:0048232) | 5.66840719 |
| 27 | centriole replication (GO:0007099) | 5.59555455 |
| 28 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.44575392 |
| 29 | negative regulation of inclusion body assembly (GO:0090084) | 5.33291337 |
| 30 | regulation of cilium movement (GO:0003352) | 5.29973399 |
| 31 | rRNA modification (GO:0000154) | 5.26093036 |
| 32 | cellular ketone body metabolic process (GO:0046950) | 5.20542351 |
| 33 | gamete generation (GO:0007276) | 5.20259307 |
| 34 | microtubule severing (GO:0051013) | 5.20165792 |
| 35 | protein localization to Golgi apparatus (GO:0034067) | 5.06146684 |
| 36 | motile cilium assembly (GO:0044458) | 4.93344017 |
| 37 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.84327245 |
| 38 | regulation of Rab GTPase activity (GO:0032313) | 4.84208462 |
| 39 | positive regulation of Rab GTPase activity (GO:0032851) | 4.84208462 |
| 40 | epithelial cilium movement (GO:0003351) | 4.74456795 |
| 41 | centriole assembly (GO:0098534) | 4.68143374 |
| 42 | single fertilization (GO:0007338) | 4.64634587 |
| 43 | ketone body metabolic process (GO:1902224) | 4.58180363 |
| 44 | seminiferous tubule development (GO:0072520) | 4.54586819 |
| 45 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.52902369 |
| 46 | chromatin silencing (GO:0006342) | 4.36879300 |
| 47 | germ cell development (GO:0007281) | 4.24360196 |
| 48 | regulation of centriole replication (GO:0046599) | 4.15892137 |
| 49 | coenzyme catabolic process (GO:0009109) | 4.13675159 |
| 50 | cell wall macromolecule catabolic process (GO:0016998) | 4.13674781 |
| 51 | multicellular organismal reproductive process (GO:0048609) | 4.11512868 |
| 52 | cilium movement (GO:0003341) | 4.07139783 |
| 53 | regulation of transcription involved in cell fate commitment (GO:0060850) | 4.05392676 |
| 54 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.04142618 |
| 55 | RNA destabilization (GO:0050779) | 4.00959768 |
| 56 | cell wall macromolecule metabolic process (GO:0044036) | 3.92851308 |
| 57 | regulation of inclusion body assembly (GO:0090083) | 3.83163514 |
| 58 | fertilization (GO:0009566) | 3.81115554 |
| 59 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.73800302 |
| 60 | regulation of microtubule-based movement (GO:0060632) | 3.73079505 |
| 61 | nucleus organization (GO:0006997) | 3.56638325 |
| 62 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.54134387 |
| 63 | glycerol ether metabolic process (GO:0006662) | 3.46967181 |
| 64 | cranial nerve morphogenesis (GO:0021602) | 3.34083812 |
| 65 | cerebral cortex neuron differentiation (GO:0021895) | 3.30905895 |
| 66 | ether metabolic process (GO:0018904) | 3.27367828 |
| 67 | organic cation transport (GO:0015695) | 3.25901460 |
| 68 | musculoskeletal movement (GO:0050881) | 3.23253984 |
| 69 | multicellular organismal movement (GO:0050879) | 3.23253984 |
| 70 | microtubule nucleation (GO:0007020) | 3.22990371 |
| 71 | piRNA metabolic process (GO:0034587) | 3.14922815 |
| 72 | cell recognition (GO:0008037) | 3.11953478 |
| 73 | polyamine biosynthetic process (GO:0006596) | 3.08515730 |
| 74 | DNA methylation involved in gamete generation (GO:0043046) | 3.03861520 |
| 75 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.03782992 |
| 76 | male meiosis I (GO:0007141) | 3.02627974 |
| 77 | axoneme assembly (GO:0035082) | 3.00931157 |
| 78 | histone H3-K9 demethylation (GO:0033169) | 2.99882520 |
| 79 | intra-Golgi vesicle-mediated transport (GO:0006891) | 2.90941587 |
| 80 | protein-DNA complex disassembly (GO:0032986) | 2.88561773 |
| 81 | nucleosome disassembly (GO:0006337) | 2.88561773 |
| 82 | NAD biosynthetic process (GO:0009435) | 2.88002688 |
| 83 | regulation of somitogenesis (GO:0014807) | 2.84969669 |
| 84 | peptidyl-threonine dephosphorylation (GO:0035970) | 2.82177331 |
| 85 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.81031085 |
| 86 | multicellular organismal development (GO:0007275) | 2.80610908 |
| 87 | response to acidic pH (GO:0010447) | 2.77485029 |
| 88 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.75726771 |
| 89 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.75428349 |
| 90 | male meiosis (GO:0007140) | 2.74952842 |
| 91 | cell differentiation involved in metanephros development (GO:0072202) | 2.74776049 |
| 92 | cellular response to pH (GO:0071467) | 2.70339481 |
| 93 | ventricular system development (GO:0021591) | 2.69420403 |
| 94 | cilium assembly (GO:0042384) | 2.68975960 |
| 95 | cilium organization (GO:0044782) | 2.67829411 |
| 96 | neurofilament cytoskeleton organization (GO:0060052) | 2.61984622 |
| 97 | spinal cord motor neuron differentiation (GO:0021522) | 2.60047923 |
| 98 | acrosome reaction (GO:0007340) | 11.4270439 |
| 99 | sperm motility (GO:0030317) | 10.9070713 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 10.1031567 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 3.46035222 |
| 2 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.98017953 |
| 3 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.92236140 |
| 4 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.48344258 |
| 5 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.45613170 |
| 6 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.45613170 |
| 7 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.44392229 |
| 8 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.42013360 |
| 9 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.40766885 |
| 10 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.38246930 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.38246930 |
| 12 | FUS_26573619_Chip-Seq_HEK293_Human | 2.35745647 |
| 13 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.21448672 |
| 14 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.02963630 |
| 15 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 2.00548435 |
| 16 | ERA_21632823_ChIP-Seq_H3396_Human | 1.98922933 |
| 17 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.95931761 |
| 18 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.93602297 |
| 19 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.80874172 |
| 20 | VDR_22108803_ChIP-Seq_LS180_Human | 1.77625748 |
| 21 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.73978064 |
| 22 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.73726237 |
| 23 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.71817671 |
| 24 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.70455891 |
| 25 | P300_19829295_ChIP-Seq_ESCs_Human | 1.70387668 |
| 26 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.67054504 |
| 27 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.66966091 |
| 28 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.66455970 |
| 29 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.66005707 |
| 30 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.65774613 |
| 31 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.64190306 |
| 32 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.63080540 |
| 33 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.59204475 |
| 34 | AR_25329375_ChIP-Seq_VCAP_Human | 1.57977387 |
| 35 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.56805192 |
| 36 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.56231304 |
| 37 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.54414494 |
| 38 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.52006768 |
| 39 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.49549708 |
| 40 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.48180436 |
| 41 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.46225701 |
| 42 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.45682058 |
| 43 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.45286943 |
| 44 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.44106940 |
| 45 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.43430258 |
| 46 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.40392341 |
| 47 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.38090590 |
| 48 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.37810183 |
| 49 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.36865658 |
| 50 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.33632689 |
| 51 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.33310107 |
| 52 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.32992372 |
| 53 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.32926228 |
| 54 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.32201749 |
| 55 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.31628928 |
| 56 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.31533254 |
| 57 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.31082130 |
| 58 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.29198260 |
| 59 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.29067825 |
| 60 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.28965427 |
| 61 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.28565313 |
| 62 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.28452964 |
| 63 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.28241712 |
| 64 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.28146621 |
| 65 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.26715139 |
| 66 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.26200523 |
| 67 | TBL1_22424771_ChIP-Seq_293T_Human | 1.25559219 |
| 68 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.24598710 |
| 69 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.24223884 |
| 70 | STAT3_23295773_ChIP-Seq_U87_Human | 1.22642206 |
| 71 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.22389114 |
| 72 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.22389114 |
| 73 | NFYB_21822215_ChIP-Seq_K562_Human | 1.22324142 |
| 74 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.20122019 |
| 75 | NCOR_22424771_ChIP-Seq_293T_Human | 1.19910654 |
| 76 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.17771364 |
| 77 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.17571935 |
| 78 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.16853592 |
| 79 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.16453410 |
| 80 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.15811733 |
| 81 | P68_20966046_ChIP-Seq_HELA_Human | 1.15112382 |
| 82 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.14719521 |
| 83 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.13852497 |
| 84 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.13035131 |
| 85 | P300_27268052_Chip-Seq_Bcells_Human | 1.12918547 |
| 86 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.11534852 |
| 87 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.10252185 |
| 88 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.08752317 |
| 89 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.08665849 |
| 90 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.07795807 |
| 91 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.07627331 |
| 92 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.07232966 |
| 93 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.06765916 |
| 94 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.06429668 |
| 95 | NFYA_21822215_ChIP-Seq_K562_Human | 1.05365851 |
| 96 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.04706338 |
| 97 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.03749406 |
| 98 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.03504924 |
| 99 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.02998491 |
| 100 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.02964118 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005377_hearing/vestibular/ear_phenot | 4.50081737 |
| 2 | MP0003878_abnormal_ear_physiology | 4.50081737 |
| 3 | MP0005670_abnormal_white_adipose | 4.38842069 |
| 4 | MP0003698_abnormal_male_reproductive | 3.95081085 |
| 5 | MP0001929_abnormal_gametogenesis | 3.37465814 |
| 6 | MP0001348_abnormal_lacrimal_gland | 2.79266951 |
| 7 | MP0003646_muscle_fatigue | 2.37696210 |
| 8 | MP0005423_abnormal_somatic_nervous | 2.15574877 |
| 9 | MP0002161_abnormal_fertility/fecundity | 2.12924597 |
| 10 | MP0003718_maternal_effect | 2.04554536 |
| 11 | MP0003011_delayed_dark_adaptation | 2.00573721 |
| 12 | MP0005410_abnormal_fertilization | 10.4456369 |
| 13 | MP0000678_abnormal_parathyroid_gland | 1.93622848 |
| 14 | MP0008877_abnormal_DNA_methylation | 1.88980234 |
| 15 | MP0001486_abnormal_startle_reflex | 1.85128282 |
| 16 | MP0002132_abnormal_respiratory_system | 1.84104236 |
| 17 | MP0003880_abnormal_central_pattern | 1.75410423 |
| 18 | MP0002210_abnormal_sex_determination | 1.67894593 |
| 19 | MP0005379_endocrine/exocrine_gland_phen | 1.66095732 |
| 20 | MP0001485_abnormal_pinna_reflex | 1.65752232 |
| 21 | MP0002234_abnormal_pharynx_morphology | 1.59323226 |
| 22 | MP0006292_abnormal_olfactory_placode | 1.55659345 |
| 23 | MP0002138_abnormal_hepatobiliary_system | 1.53676149 |
| 24 | MP0004742_abnormal_vestibular_system | 1.53418366 |
| 25 | MP0001968_abnormal_touch/_nociception | 1.52301453 |
| 26 | MP0005551_abnormal_eye_electrophysiolog | 1.46113533 |
| 27 | MP0002653_abnormal_ependyma_morphology | 1.45631182 |
| 28 | MP0004859_abnormal_synaptic_plasticity | 1.39596565 |
| 29 | MP0001145_abnormal_male_reproductive | 1.35529766 |
| 30 | MP0002735_abnormal_chemical_nociception | 1.34992236 |
| 31 | MP0003787_abnormal_imprinting | 1.31920673 |
| 32 | MP0000653_abnormal_sex_gland | 1.29290399 |
| 33 | MP0002822_catalepsy | 1.27398183 |
| 34 | MP0001984_abnormal_olfaction | 1.22167037 |
| 35 | MP0003879_abnormal_hair_cell | 1.17342800 |
| 36 | MP0002249_abnormal_larynx_morphology | 1.14353864 |
| 37 | MP0001963_abnormal_hearing_physiology | 1.13765574 |
| 38 | MP0006276_abnormal_autonomic_nervous | 1.11620999 |
| 39 | MP0000026_abnormal_inner_ear | 1.10933846 |
| 40 | MP0005248_abnormal_Harderian_gland | 1.10148713 |
| 41 | MP0002229_neurodegeneration | 1.08748714 |
| 42 | MP0002282_abnormal_trachea_morphology | 1.08401952 |
| 43 | MP0000955_abnormal_spinal_cord | 1.07165192 |
| 44 | MP0003136_yellow_coat_color | 1.05078020 |
| 45 | MP0002733_abnormal_thermal_nociception | 1.04245232 |
| 46 | MP0002272_abnormal_nervous_system | 1.02520136 |
| 47 | MP0005253_abnormal_eye_physiology | 1.02253249 |
| 48 | MP0005367_renal/urinary_system_phenotyp | 1.01627409 |
| 49 | MP0000516_abnormal_urinary_system | 1.01627409 |
| 50 | MP0005310_abnormal_salivary_gland | 1.00417309 |
| 51 | MP0009745_abnormal_behavioral_response | 0.99596255 |
| 52 | MP0002572_abnormal_emotion/affect_behav | 0.99136067 |
| 53 | MP0002067_abnormal_sensory_capabilities | 0.98290982 |
| 54 | MP0002557_abnormal_social/conspecific_i | 0.97082913 |
| 55 | MP0009053_abnormal_anal_canal | 0.96513993 |
| 56 | MP0008995_early_reproductive_senescence | 0.96246918 |
| 57 | MP0004510_myositis | 0.94133562 |
| 58 | MP0002127_abnormal_cardiovascular_syste | 0.93794290 |
| 59 | MP0005395_other_phenotype | 0.92826718 |
| 60 | MP0008789_abnormal_olfactory_epithelium | 0.92007241 |
| 61 | MP0001765_abnormal_ion_homeostasis | 0.87105157 |
| 62 | MP0001970_abnormal_pain_threshold | 0.86813449 |
| 63 | MP0004085_abnormal_heartbeat | 0.86280331 |
| 64 | MP0001905_abnormal_dopamine_level | 0.85659776 |
| 65 | MP0000681_abnormal_thyroid_gland | 0.84040079 |
| 66 | MP0005394_taste/olfaction_phenotype | 0.80630280 |
| 67 | MP0005499_abnormal_olfactory_system | 0.80630280 |
| 68 | MP0009115_abnormal_fat_cell | 0.78949107 |
| 69 | MP0002837_dystrophic_cardiac_calcinosis | 0.76924594 |
| 70 | MP0000534_abnormal_ureter_morphology | 0.76791219 |
| 71 | MP0009046_muscle_twitch | 0.75725988 |
| 72 | MP0000049_abnormal_middle_ear | 0.75166267 |
| 73 | MP0003635_abnormal_synaptic_transmissio | 0.73213900 |
| 74 | MP0001501_abnormal_sleep_pattern | 0.72982424 |
| 75 | MP0002928_abnormal_bile_duct | 0.72424295 |
| 76 | MP0000569_abnormal_digit_pigmentation | 0.69362034 |
| 77 | MP0005084_abnormal_gallbladder_morpholo | 0.68511169 |
| 78 | MP0004484_altered_response_of | 0.68219152 |
| 79 | MP0003137_abnormal_impulse_conducting | 0.68199629 |
| 80 | MP0002752_abnormal_somatic_nervous | 0.66409528 |
| 81 | MP0002734_abnormal_mechanical_nocicepti | 0.66333568 |
| 82 | MP0000778_abnormal_nervous_system | 0.65775331 |
| 83 | MP0002882_abnormal_neuron_morphology | 0.64933299 |
| 84 | MP0003121_genomic_imprinting | 0.62951038 |
| 85 | MP0005666_abnormal_adipose_tissue | 0.60371448 |
| 86 | MP0005645_abnormal_hypothalamus_physiol | 0.58623149 |
| 87 | MP0003119_abnormal_digestive_system | 0.53483527 |
| 88 | MP0001440_abnormal_grooming_behavior | 0.52992863 |
| 89 | MP0008569_lethality_at_weaning | 0.52233981 |
| 90 | MP0005636_abnormal_mineral_homeostasis | 0.51649098 |
| 91 | MP0002064_seizures | 0.50916150 |
| 92 | MP0005535_abnormal_body_temperature | 0.50837888 |
| 93 | MP0002736_abnormal_nociception_after | 0.50728777 |
| 94 | MP0005391_vision/eye_phenotype | 0.50387206 |
| 95 | MP0000015_abnormal_ear_pigmentation | 0.50207342 |
| 96 | MP0000230_abnormal_systemic_arterial | 0.49299871 |
| 97 | MP0008775_abnormal_heart_ventricle | 0.48982928 |
| 98 | MP0002063_abnormal_learning/memory/cond | 0.48880870 |
| 99 | MP0004885_abnormal_endolymph | 0.48879864 |
| 100 | MP0001879_abnormal_lymphatic_vessel | 0.47378676 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 7.77840789 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 6.30787608 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 6.30787608 |
| 4 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.87841573 |
| 5 | Abnormal ciliary motility (HP:0012262) | 4.86407772 |
| 6 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.73049179 |
| 7 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.73049179 |
| 8 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.61694064 |
| 9 | Attenuation of retinal blood vessels (HP:0007843) | 4.61138915 |
| 10 | Tubulointerstitial nephritis (HP:0001970) | 4.60565029 |
| 11 | Chronic hepatic failure (HP:0100626) | 4.51019940 |
| 12 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.29200219 |
| 13 | Abnormality of macular pigmentation (HP:0008002) | 4.07727966 |
| 14 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.94695783 |
| 15 | Hyperkalemia (HP:0002153) | 3.83117941 |
| 16 | Asymmetric septal hypertrophy (HP:0001670) | 3.76673317 |
| 17 | Infertility (HP:0000789) | 3.67510434 |
| 18 | Nephronophthisis (HP:0000090) | 3.64951089 |
| 19 | Hypoplastic ischia (HP:0003175) | 3.45196210 |
| 20 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.45004469 |
| 21 | Bell-shaped thorax (HP:0001591) | 3.35822629 |
| 22 | Resting tremor (HP:0002322) | 3.31587392 |
| 23 | Potter facies (HP:0002009) | 3.24502343 |
| 24 | Facial shape deformation (HP:0011334) | 3.24502343 |
| 25 | Male infertility (HP:0003251) | 3.24170305 |
| 26 | Nasal polyposis (HP:0100582) | 3.23655479 |
| 27 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.17385209 |
| 28 | Abnormality of the renal medulla (HP:0100957) | 3.13130086 |
| 29 | Abnormality of the ischium (HP:0003174) | 3.12590488 |
| 30 | Enlarged epiphyses (HP:0010580) | 3.11464372 |
| 31 | Impulsivity (HP:0100710) | 3.03654795 |
| 32 | Amelogenesis imperfecta (HP:0000705) | 2.91155812 |
| 33 | Hypoplasia of the thymus (HP:0000778) | 2.86537958 |
| 34 | Cone-rod dystrophy (HP:0000548) | 2.86041053 |
| 35 | Azoospermia (HP:0000027) | 2.85786342 |
| 36 | Congenital malformation of the right heart (HP:0011723) | 2.83666795 |
| 37 | Double outlet right ventricle (HP:0001719) | 2.83666795 |
| 38 | Abnormal spermatogenesis (HP:0008669) | 2.80431142 |
| 39 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.78740335 |
| 40 | Abnormality of dental color (HP:0011073) | 2.77607292 |
| 41 | Rhinitis (HP:0012384) | 2.68686118 |
| 42 | Renal dysplasia (HP:0000110) | 2.68665315 |
| 43 | Abnormal urine output (HP:0012590) | 2.67525687 |
| 44 | Stage 5 chronic kidney disease (HP:0003774) | 2.60454235 |
| 45 | Progressive cerebellar ataxia (HP:0002073) | 2.54115089 |
| 46 | Polydipsia (HP:0001959) | 2.51355065 |
| 47 | Abnormal drinking behavior (HP:0030082) | 2.51355065 |
| 48 | Abnormality of the nasal mucosa (HP:0000433) | 2.42601866 |
| 49 | Abnormality of the aortic arch (HP:0012303) | 2.42096400 |
| 50 | Unilateral renal agenesis (HP:0000122) | 2.39917740 |
| 51 | Tubulointerstitial abnormality (HP:0001969) | 2.37862799 |
| 52 | Polyuria (HP:0000103) | 2.37147955 |
| 53 | Abnormality of potassium homeostasis (HP:0011042) | 2.36194343 |
| 54 | Chronic bronchitis (HP:0004469) | 2.34099699 |
| 55 | Truncal obesity (HP:0001956) | 2.31511441 |
| 56 | Pendular nystagmus (HP:0012043) | 2.31231856 |
| 57 | Abnormality of the parathyroid morphology (HP:0011766) | 2.28459376 |
| 58 | Abnormality of renal excretion (HP:0011036) | 2.27413077 |
| 59 | Optic nerve hypoplasia (HP:0000609) | 2.25245126 |
| 60 | Postural instability (HP:0002172) | 2.25132732 |
| 61 | Pancreatic fibrosis (HP:0100732) | 2.24493738 |
| 62 | Myokymia (HP:0002411) | 2.23921873 |
| 63 | Osteomalacia (HP:0002749) | 2.17408836 |
| 64 | Pancreatic cysts (HP:0001737) | 2.15461466 |
| 65 | Bronchiectasis (HP:0002110) | 2.08600836 |
| 66 | Congenital stationary night blindness (HP:0007642) | 2.06401056 |
| 67 | Decreased central vision (HP:0007663) | 2.03083018 |
| 68 | Abnormality of midbrain morphology (HP:0002418) | 2.02065717 |
| 69 | Molar tooth sign on MRI (HP:0002419) | 2.02065717 |
| 70 | Occipital encephalocele (HP:0002085) | 2.01039153 |
| 71 | Type 2 muscle fiber atrophy (HP:0003554) | 2.00535506 |
| 72 | Abnormality of the costochondral junction (HP:0000919) | 1.99584581 |
| 73 | Muscle fiber atrophy (HP:0100295) | 1.99554459 |
| 74 | Tubular atrophy (HP:0000092) | 1.97953847 |
| 75 | Portal hypertension (HP:0001409) | 1.96809846 |
| 76 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.95449111 |
| 77 | Abnormality of the pubic bones (HP:0003172) | 1.89920966 |
| 78 | Failure to thrive in infancy (HP:0001531) | 1.88892737 |
| 79 | Cerebellar dysplasia (HP:0007033) | 1.86933867 |
| 80 | Generalized aminoaciduria (HP:0002909) | 1.86880065 |
| 81 | Photophobia (HP:0000613) | 1.80887281 |
| 82 | Hypophosphatemic rickets (HP:0004912) | 1.78758315 |
| 83 | Abnormality of the hepatic vasculature (HP:0006707) | 1.78421587 |
| 84 | Type II lissencephaly (HP:0007260) | 1.77830000 |
| 85 | Intellectual disability, moderate (HP:0002342) | 1.77144655 |
| 86 | Tetany (HP:0001281) | 1.76601357 |
| 87 | Sclerocornea (HP:0000647) | 1.75801184 |
| 88 | Atonic seizures (HP:0010819) | 1.75612287 |
| 89 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 1.74752087 |
| 90 | Renal Fanconi syndrome (HP:0001994) | 1.72545065 |
| 91 | Hypoalphalipoproteinemia (HP:0003233) | 1.70447190 |
| 92 | Widely patent fontanelles and sutures (HP:0004492) | 1.70415610 |
| 93 | Abnormality of the femoral head (HP:0003368) | 1.67828776 |
| 94 | Recurrent corneal erosions (HP:0000495) | 1.67725387 |
| 95 | Anencephaly (HP:0002323) | 1.66899395 |
| 96 | Epiphyseal dysplasia (HP:0002656) | 1.65358841 |
| 97 | Absent epiphyses (HP:0010577) | 1.64774386 |
| 98 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.64774386 |
| 99 | Amblyopia (HP:0000646) | 1.63839507 |
| 100 | Hypokalemia (HP:0002900) | 1.63349148 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 7.67185131 |
| 2 | TESK1 | 4.64445662 |
| 3 | MAP4K2 | 4.22090008 |
| 4 | DDR2 | 3.93609115 |
| 5 | INSRR | 3.72450436 |
| 6 | PLK2 | 3.27064690 |
| 7 | PNCK | 3.01874242 |
| 8 | BRD4 | 2.98935749 |
| 9 | STK38 | 2.55390062 |
| 10 | PRKD3 | 2.55147460 |
| 11 | STK38L | 2.43497317 |
| 12 | CAMK1G | 2.04800136 |
| 13 | MAPK15 | 1.99780431 |
| 14 | LATS1 | 1.89666278 |
| 15 | WNK1 | 1.68630129 |
| 16 | PIK3CG | 1.56712376 |
| 17 | FRK | 1.39216259 |
| 18 | PDPK1 | 1.33740236 |
| 19 | PDK1 | 1.30360673 |
| 20 | MARK1 | 1.23648869 |
| 21 | ZAK | 1.21166551 |
| 22 | PINK1 | 1.20025719 |
| 23 | CDK19 | 1.14461841 |
| 24 | DYRK1B | 1.13811370 |
| 25 | WNK4 | 1.09694888 |
| 26 | CDK7 | 1.00899228 |
| 27 | WNK3 | 0.99444728 |
| 28 | MAP3K4 | 0.95197757 |
| 29 | MST1R | 0.94923561 |
| 30 | NUAK1 | 0.94393962 |
| 31 | BMPR1B | 0.93050616 |
| 32 | PTK2B | 0.92819045 |
| 33 | ADRBK2 | 0.89688402 |
| 34 | MAP2K7 | 0.88116268 |
| 35 | MAP3K9 | 0.87872061 |
| 36 | CDK3 | 0.86802045 |
| 37 | NEK6 | 0.82181433 |
| 38 | CAMK1D | 0.81771262 |
| 39 | LATS2 | 0.81579640 |
| 40 | MAPK13 | 0.81078208 |
| 41 | AKT3 | 0.79470414 |
| 42 | SIK2 | 0.75759324 |
| 43 | PRKCG | 0.73939717 |
| 44 | TYRO3 | 0.71760691 |
| 45 | PRKAA2 | 0.69900140 |
| 46 | CAMK1 | 0.69288865 |
| 47 | OXSR1 | 0.68364142 |
| 48 | PRKG1 | 0.67940157 |
| 49 | UHMK1 | 0.65763392 |
| 50 | NTRK3 | 0.60555247 |
| 51 | DYRK2 | 0.59188115 |
| 52 | STK39 | 0.57128657 |
| 53 | KSR2 | 0.56880400 |
| 54 | BCKDK | 0.55878050 |
| 55 | GRK1 | 0.53538824 |
| 56 | BRAF | 0.52727226 |
| 57 | MAP2K2 | 0.52716560 |
| 58 | MAP3K2 | 0.49805501 |
| 59 | MAP3K11 | 0.48081321 |
| 60 | RPS6KA2 | 0.47098360 |
| 61 | RPS6KA1 | 0.46978492 |
| 62 | GSK3B | 0.46447843 |
| 63 | MINK1 | 0.43492442 |
| 64 | CDK2 | 0.41607098 |
| 65 | CDK12 | 0.41040544 |
| 66 | SGK494 | 0.40892161 |
| 67 | SGK223 | 0.40892161 |
| 68 | CDK1 | 0.39796041 |
| 69 | PRKCE | 0.39588322 |
| 70 | CAMK4 | 0.38697156 |
| 71 | MUSK | 0.37954188 |
| 72 | TNK2 | 0.37930594 |
| 73 | MAPK1 | 0.37514214 |
| 74 | TIE1 | 0.37165662 |
| 75 | PRKCZ | 0.36634932 |
| 76 | MAPK8 | 0.32807265 |
| 77 | SGK1 | 0.32192694 |
| 78 | TAOK3 | 0.31380131 |
| 79 | PRKG2 | 0.29730484 |
| 80 | ROCK1 | 0.29306826 |
| 81 | PKN1 | 0.29244319 |
| 82 | CHEK1 | 0.28200398 |
| 83 | PRKACA | 0.26240632 |
| 84 | MAPK14 | 0.25499709 |
| 85 | ARAF | 0.25467390 |
| 86 | OBSCN | 0.25210994 |
| 87 | CAMK2A | 0.23675517 |
| 88 | TRIM28 | 0.22741594 |
| 89 | PRKCB | 0.22492267 |
| 90 | PRKAA1 | 0.21648750 |
| 91 | ACVR1B | 0.20986982 |
| 92 | PRKACB | 0.20042501 |
| 93 | AKT1 | 0.19678334 |
| 94 | RPS6KA6 | 0.19503252 |
| 95 | DYRK3 | 0.18942853 |
| 96 | MARK2 | 0.18285314 |
| 97 | MKNK2 | 0.18264670 |
| 98 | CSNK1A1 | 0.17907408 |
| 99 | CDK4 | 0.17216089 |
| 100 | CASK | 0.17169137 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.40971789 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.47642457 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.87738953 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.56493676 |
| 5 | Phototransduction_Homo sapiens_hsa04744 | 2.49647177 |
| 6 | Taste transduction_Homo sapiens_hsa04742 | 2.31766938 |
| 7 | Nicotine addiction_Homo sapiens_hsa05033 | 2.11709639 |
| 8 | Allograft rejection_Homo sapiens_hsa05330 | 2.10296804 |
| 9 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.05256718 |
| 10 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 2.04294321 |
| 11 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.98336954 |
| 12 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.89379385 |
| 13 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.79444531 |
| 14 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.73783004 |
| 15 | RNA transport_Homo sapiens_hsa03013 | 1.56831580 |
| 16 | Viral myocarditis_Homo sapiens_hsa05416 | 1.42252789 |
| 17 | Basal transcription factors_Homo sapiens_hsa03022 | 1.38257691 |
| 18 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.33836919 |
| 19 | Morphine addiction_Homo sapiens_hsa05032 | 1.33183744 |
| 20 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.25624726 |
| 21 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.25335741 |
| 22 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.22437008 |
| 23 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.17959377 |
| 24 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.14059807 |
| 25 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.13064461 |
| 26 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.11102822 |
| 27 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.09216850 |
| 28 | Salivary secretion_Homo sapiens_hsa04970 | 1.07369240 |
| 29 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.05458915 |
| 30 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.04277213 |
| 31 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.03748550 |
| 32 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.03470654 |
| 33 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.02188738 |
| 34 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.01835837 |
| 35 | Circadian entrainment_Homo sapiens_hsa04713 | 0.99646986 |
| 36 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.99283308 |
| 37 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.96942292 |
| 38 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.95655567 |
| 39 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.93547931 |
| 40 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.90002709 |
| 41 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.89717385 |
| 42 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.89494913 |
| 43 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.85245423 |
| 44 | GABAergic synapse_Homo sapiens_hsa04727 | 0.83593284 |
| 45 | Huntingtons disease_Homo sapiens_hsa05016 | 0.79320353 |
| 46 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.76104506 |
| 47 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.75727910 |
| 48 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.75466290 |
| 49 | Purine metabolism_Homo sapiens_hsa00230 | 0.73826871 |
| 50 | Retinol metabolism_Homo sapiens_hsa00830 | 0.73112290 |
| 51 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.71905819 |
| 52 | Insulin secretion_Homo sapiens_hsa04911 | 0.70955477 |
| 53 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.70748656 |
| 54 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.69680510 |
| 55 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.69117083 |
| 56 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.68660020 |
| 57 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.65759147 |
| 58 | Asthma_Homo sapiens_hsa05310 | 0.62591296 |
| 59 | Endocytosis_Homo sapiens_hsa04144 | 0.61390819 |
| 60 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.60027181 |
| 61 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.59758431 |
| 62 | ABC transporters_Homo sapiens_hsa02010 | 0.59165640 |
| 63 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.58894456 |
| 64 | Peroxisome_Homo sapiens_hsa04146 | 0.57862196 |
| 65 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.57022537 |
| 66 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.56660494 |
| 67 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.55546556 |
| 68 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.53935798 |
| 69 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.53291946 |
| 70 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.52191350 |
| 71 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.47293659 |
| 72 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.47201831 |
| 73 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.46323255 |
| 74 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.45585846 |
| 75 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.45139495 |
| 76 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.44487596 |
| 77 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.44373702 |
| 78 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.43604235 |
| 79 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.43314137 |
| 80 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.42706633 |
| 81 | Renin secretion_Homo sapiens_hsa04924 | 0.42488102 |
| 82 | RNA degradation_Homo sapiens_hsa03018 | 0.41392642 |
| 83 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.40518741 |
| 84 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.38416363 |
| 85 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.37696302 |
| 86 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.36641977 |
| 87 | Homologous recombination_Homo sapiens_hsa03440 | 0.36540086 |
| 88 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.34140108 |
| 89 | Metabolic pathways_Homo sapiens_hsa01100 | 0.33771576 |
| 90 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.33417466 |
| 91 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.33216883 |
| 92 | Influenza A_Homo sapiens_hsa05164 | 0.31698799 |
| 93 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.31234556 |
| 94 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.30913054 |
| 95 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.30213453 |
| 96 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.23228555 |
| 97 | Circadian rhythm_Homo sapiens_hsa04710 | 0.23042804 |
| 98 | Bile secretion_Homo sapiens_hsa04976 | 0.22550348 |
| 99 | Long-term potentiation_Homo sapiens_hsa04720 | 0.22231136 |
| 100 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.22214227 |

