

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | fusion of sperm to egg plasma membrane (GO:0007342) | 9.80477949 |
| 2 | chromosome condensation (GO:0030261) | 8.08178747 |
| 3 | microtubule depolymerization (GO:0007019) | 7.95433297 |
| 4 | DNA packaging (GO:0006323) | 7.88850039 |
| 5 | protein targeting to Golgi (GO:0000042) | 7.86650202 |
| 6 | response to pheromone (GO:0019236) | 7.86139055 |
| 7 | protein polyglutamylation (GO:0018095) | 7.81399476 |
| 8 | sperm capacitation (GO:0048240) | 7.70628226 |
| 9 | single strand break repair (GO:0000012) | 7.66310959 |
| 10 | establishment of protein localization to Golgi (GO:0072600) | 7.63774979 |
| 11 | spermatid development (GO:0007286) | 7.54052365 |
| 12 | plasma membrane fusion (GO:0045026) | 7.47702541 |
| 13 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 7.29492409 |
| 14 | rRNA methylation (GO:0031167) | 7.25053215 |
| 15 | microtubule polymerization or depolymerization (GO:0031109) | 7.08947649 |
| 16 | sperm-egg recognition (GO:0035036) | 6.91295784 |
| 17 | spermatid nucleus differentiation (GO:0007289) | 6.88238658 |
| 18 | centriole replication (GO:0007099) | 6.82745574 |
| 19 | multicellular organism reproduction (GO:0032504) | 6.81887199 |
| 20 | rRNA modification (GO:0000154) | 6.25543918 |
| 21 | calcium ion-dependent exocytosis (GO:0017156) | 6.23365898 |
| 22 | reproduction (GO:0000003) | 6.11392074 |
| 23 | axonemal dynein complex assembly (GO:0070286) | 5.97759616 |
| 24 | * spermatogenesis (GO:0007283) | 5.96165258 |
| 25 | binding of sperm to zona pellucida (GO:0007339) | 5.96165124 |
| 26 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 5.94932635 |
| 27 | * male gamete generation (GO:0048232) | 5.94852831 |
| 28 | protein localization to Golgi apparatus (GO:0034067) | 5.85896491 |
| 29 | regulation of centriole replication (GO:0046599) | 5.71063264 |
| 30 | centriole assembly (GO:0098534) | 5.69213125 |
| 31 | cell-cell recognition (GO:0009988) | 5.68304160 |
| 32 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.55391286 |
| 33 | * gamete generation (GO:0007276) | 5.47113080 |
| 34 | regulation of cilium movement (GO:0003352) | 5.46437628 |
| 35 | seminiferous tubule development (GO:0072520) | 5.46287275 |
| 36 | microtubule severing (GO:0051013) | 5.23190130 |
| 37 | cellular ketone body metabolic process (GO:0046950) | 5.10715392 |
| 38 | sexual reproduction (GO:0019953) | 5.07075499 |
| 39 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.96093336 |
| 40 | single fertilization (GO:0007338) | 4.95808504 |
| 41 | negative regulation of inclusion body assembly (GO:0090084) | 4.90952094 |
| 42 | epithelial cilium movement (GO:0003351) | 4.88670474 |
| 43 | RNA destabilization (GO:0050779) | 4.78716754 |
| 44 | cell wall macromolecule catabolic process (GO:0016998) | 4.77978202 |
| 45 | motile cilium assembly (GO:0044458) | 4.76074382 |
| 46 | cell wall macromolecule metabolic process (GO:0044036) | 4.51406740 |
| 47 | regulation of Rab GTPase activity (GO:0032313) | 4.51000863 |
| 48 | positive regulation of Rab GTPase activity (GO:0032851) | 4.51000863 |
| 49 | ketone body metabolic process (GO:1902224) | 4.49700708 |
| 50 | fertilization (GO:0009566) | 4.32541661 |
| 51 | * multicellular organismal reproductive process (GO:0048609) | 4.32238454 |
| 52 | germ cell development (GO:0007281) | 4.28817684 |
| 53 | microtubule nucleation (GO:0007020) | 4.23907060 |
| 54 | glomerular visceral epithelial cell development (GO:0072015) | 4.22980724 |
| 55 | cilium movement (GO:0003341) | 4.18091630 |
| 56 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.00452251 |
| 57 | glomerular epithelial cell development (GO:0072310) | 3.93775573 |
| 58 | musculoskeletal movement (GO:0050881) | 3.87771410 |
| 59 | multicellular organismal movement (GO:0050879) | 3.87771410 |
| 60 | chromatin silencing (GO:0006342) | 3.84467346 |
| 61 | regulation of inclusion body assembly (GO:0090083) | 3.69775766 |
| 62 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.69599274 |
| 63 | nucleus organization (GO:0006997) | 3.67607567 |
| 64 | regulation of microtubule-based movement (GO:0060632) | 3.66823291 |
| 65 | organic cation transport (GO:0015695) | 3.53098246 |
| 66 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.49603783 |
| 67 | glycerol ether metabolic process (GO:0006662) | 3.48908610 |
| 68 | piRNA metabolic process (GO:0034587) | 3.47288355 |
| 69 | axoneme assembly (GO:0035082) | 3.41064810 |
| 70 | coenzyme catabolic process (GO:0009109) | 3.35884082 |
| 71 | ether metabolic process (GO:0018904) | 3.24802783 |
| 72 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.23996218 |
| 73 | positive regulation of guanylate cyclase activity (GO:0031284) | 3.17205641 |
| 74 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.15007898 |
| 75 | male meiosis I (GO:0007141) | 3.11744328 |
| 76 | DNA methylation involved in gamete generation (GO:0043046) | 3.08987518 |
| 77 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 2.99421546 |
| 78 | regulation of guanylate cyclase activity (GO:0031282) | 2.91687485 |
| 79 | cell recognition (GO:0008037) | 2.89618884 |
| 80 | regulation of meiosis I (GO:0060631) | 2.88741048 |
| 81 | multicellular organismal development (GO:0007275) | 2.86901644 |
| 82 | male meiosis (GO:0007140) | 2.86707031 |
| 83 | ventricular system development (GO:0021591) | 2.79311876 |
| 84 | Golgi to endosome transport (GO:0006895) | 2.78509125 |
| 85 | histone mRNA catabolic process (GO:0071044) | 2.77968216 |
| 86 | nuclear pore complex assembly (GO:0051292) | 2.76664728 |
| 87 | cilium organization (GO:0044782) | 2.75358896 |
| 88 | cellular response to pH (GO:0071467) | 2.75128497 |
| 89 | cilium assembly (GO:0042384) | 2.73266139 |
| 90 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.72827896 |
| 91 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.70942109 |
| 92 | spinal cord motor neuron differentiation (GO:0021522) | 2.69942262 |
| 93 | cerebral cortex neuron differentiation (GO:0021895) | 2.67451542 |
| 94 | RNA methylation (GO:0001510) | 2.66405222 |
| 95 | peptidyl-glutamic acid modification (GO:0018200) | 2.65126710 |
| 96 | polyamine biosynthetic process (GO:0006596) | 2.64418682 |
| 97 | response to acidic pH (GO:0010447) | 2.63732718 |
| 98 | protein depolymerization (GO:0051261) | 2.61141547 |
| 99 | sperm motility (GO:0030317) | 11.3938250 |
| 100 | acrosome reaction (GO:0007340) | 10.9543405 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.88758558 |
| 2 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.68385084 |
| 3 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.58825320 |
| 4 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.58825320 |
| 5 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.54732218 |
| 6 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.53032644 |
| 7 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.51572519 |
| 8 | FUS_26573619_Chip-Seq_HEK293_Human | 2.51322987 |
| 9 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.45918651 |
| 10 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.41269849 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.39905385 |
| 12 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.39905385 |
| 13 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.38602158 |
| 14 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.29114196 |
| 15 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.07393587 |
| 16 | VDR_22108803_ChIP-Seq_LS180_Human | 1.96729071 |
| 17 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.95488380 |
| 18 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.93589361 |
| 19 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.93464857 |
| 20 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.82194268 |
| 21 | P300_19829295_ChIP-Seq_ESCs_Human | 1.77993920 |
| 22 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.73698032 |
| 23 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.73698001 |
| 24 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.72031491 |
| 25 | ERA_21632823_ChIP-Seq_H3396_Human | 1.71845031 |
| 26 | AR_25329375_ChIP-Seq_VCAP_Human | 1.65728576 |
| 27 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.65388415 |
| 28 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.65076787 |
| 29 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.64118516 |
| 30 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.63491160 |
| 31 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.61802704 |
| 32 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.60216131 |
| 33 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.56627545 |
| 34 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.56447628 |
| 35 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.52926315 |
| 36 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.52563617 |
| 37 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.49161949 |
| 38 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.47265463 |
| 39 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.46834668 |
| 40 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.45260682 |
| 41 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.43968321 |
| 42 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.43768647 |
| 43 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.43062340 |
| 44 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.42654630 |
| 45 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.41843599 |
| 46 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.40778454 |
| 47 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.40688141 |
| 48 | STAT3_23295773_ChIP-Seq_U87_Human | 1.39668457 |
| 49 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.39622567 |
| 50 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.39573584 |
| 51 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.39178420 |
| 52 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.35076868 |
| 53 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.34831172 |
| 54 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.33788771 |
| 55 | NFYB_21822215_ChIP-Seq_K562_Human | 1.33307168 |
| 56 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.31787232 |
| 57 | TBL1_22424771_ChIP-Seq_293T_Human | 1.31707515 |
| 58 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.31288407 |
| 59 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.29708604 |
| 60 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.29322618 |
| 61 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.29322618 |
| 62 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.29207631 |
| 63 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.29122067 |
| 64 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.27872513 |
| 65 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.26597695 |
| 66 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.25513585 |
| 67 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.25179417 |
| 68 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.23099575 |
| 69 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.22043286 |
| 70 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.21433988 |
| 71 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.20174103 |
| 72 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.18764202 |
| 73 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.18764202 |
| 74 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.18336577 |
| 75 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.16847281 |
| 76 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.16800774 |
| 77 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.16123081 |
| 78 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.14826918 |
| 79 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.13591276 |
| 80 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.12845059 |
| 81 | NFYA_21822215_ChIP-Seq_K562_Human | 1.12545110 |
| 82 | TCF4_23295773_ChIP-Seq_U87_Human | 1.12306145 |
| 83 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.12072354 |
| 84 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.11318065 |
| 85 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.11205104 |
| 86 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.09511416 |
| 87 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.09351463 |
| 88 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.08884070 |
| 89 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.08206555 |
| 90 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.07712408 |
| 91 | NCOR_22424771_ChIP-Seq_293T_Human | 1.07575641 |
| 92 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.07417887 |
| 93 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.06452785 |
| 94 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.05695460 |
| 95 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.04421436 |
| 96 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.04326928 |
| 97 | KDM2B_26808549_Chip-Seq_REH_Human | 1.04192617 |
| 98 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.04017820 |
| 99 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.03154389 |
| 100 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.03040069 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 5.20508370 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 5.20508370 |
| 3 | MP0003698_abnormal_male_reproductive | 4.02754695 |
| 4 | MP0005670_abnormal_white_adipose | 3.70381639 |
| 5 | MP0001929_abnormal_gametogenesis | 3.54658837 |
| 6 | MP0001348_abnormal_lacrimal_gland | 2.78519522 |
| 7 | MP0003646_muscle_fatigue | 2.58816588 |
| 8 | MP0003718_maternal_effect | 2.31590427 |
| 9 | MP0001485_abnormal_pinna_reflex | 2.22039830 |
| 10 | MP0002161_abnormal_fertility/fecundity | 2.16910438 |
| 11 | MP0003011_delayed_dark_adaptation | 2.06534369 |
| 12 | MP0008877_abnormal_DNA_methylation | 2.06176060 |
| 13 | MP0005410_abnormal_fertilization | 10.4642343 |
| 14 | MP0005379_endocrine/exocrine_gland_phen | 1.97374700 |
| 15 | MP0001486_abnormal_startle_reflex | 1.95219402 |
| 16 | MP0004742_abnormal_vestibular_system | 1.95182001 |
| 17 | MP0005551_abnormal_eye_electrophysiolog | 1.77991514 |
| 18 | MP0002210_abnormal_sex_determination | 1.77626808 |
| 19 | MP0001968_abnormal_touch/_nociception | 1.73145577 |
| 20 | MP0005423_abnormal_somatic_nervous | 1.52432693 |
| 21 | MP0001145_abnormal_male_reproductive | 1.42139285 |
| 22 | MP0002282_abnormal_trachea_morphology | 1.40392064 |
| 23 | MP0002234_abnormal_pharynx_morphology | 1.38262928 |
| 24 | MP0005253_abnormal_eye_physiology | 1.37803742 |
| 25 | MP0005310_abnormal_salivary_gland | 1.37377752 |
| 26 | MP0002735_abnormal_chemical_nociception | 1.37308077 |
| 27 | MP0000653_abnormal_sex_gland | 1.37276458 |
| 28 | MP0000678_abnormal_parathyroid_gland | 1.33906132 |
| 29 | MP0001963_abnormal_hearing_physiology | 1.32954546 |
| 30 | MP0002138_abnormal_hepatobiliary_system | 1.28525671 |
| 31 | MP0001984_abnormal_olfaction | 1.19415833 |
| 32 | MP0004859_abnormal_synaptic_plasticity | 1.18138914 |
| 33 | MP0002132_abnormal_respiratory_system | 1.16486179 |
| 34 | MP0000026_abnormal_inner_ear | 1.15791154 |
| 35 | MP0003879_abnormal_hair_cell | 1.15682250 |
| 36 | MP0001765_abnormal_ion_homeostasis | 1.12698659 |
| 37 | MP0001501_abnormal_sleep_pattern | 1.09028019 |
| 38 | MP0002067_abnormal_sensory_capabilities | 1.05528562 |
| 39 | MP0002557_abnormal_social/conspecific_i | 1.04326556 |
| 40 | MP0006292_abnormal_olfactory_placode | 1.04287914 |
| 41 | MP0002229_neurodegeneration | 1.04229570 |
| 42 | MP0002733_abnormal_thermal_nociception | 1.00619366 |
| 43 | MP0009697_abnormal_copulation | 0.99608087 |
| 44 | MP0002272_abnormal_nervous_system | 0.99436591 |
| 45 | MP0005395_other_phenotype | 0.98330449 |
| 46 | MP0002572_abnormal_emotion/affect_behav | 0.98012005 |
| 47 | MP0009745_abnormal_behavioral_response | 0.97212695 |
| 48 | MP0005167_abnormal_blood-brain_barrier | 0.96995368 |
| 49 | MP0003880_abnormal_central_pattern | 0.93458907 |
| 50 | MP0005645_abnormal_hypothalamus_physiol | 0.92311715 |
| 51 | MP0002736_abnormal_nociception_after | 0.89190666 |
| 52 | MP0000955_abnormal_spinal_cord | 0.86892457 |
| 53 | MP0002822_catalepsy | 0.85466325 |
| 54 | MP0001970_abnormal_pain_threshold | 0.80505456 |
| 55 | MP0005636_abnormal_mineral_homeostasis | 0.79124997 |
| 56 | MP0004085_abnormal_heartbeat | 0.78274784 |
| 57 | MP0000569_abnormal_digit_pigmentation | 0.78153957 |
| 58 | MP0000230_abnormal_systemic_arterial | 0.75671062 |
| 59 | MP0001905_abnormal_dopamine_level | 0.75317703 |
| 60 | MP0006276_abnormal_autonomic_nervous | 0.73699794 |
| 61 | MP0005248_abnormal_Harderian_gland | 0.73344601 |
| 62 | MP0002249_abnormal_larynx_morphology | 0.72685557 |
| 63 | MP0002254_reproductive_system_inflammat | 0.72603127 |
| 64 | MP0003137_abnormal_impulse_conducting | 0.72199631 |
| 65 | MP0008789_abnormal_olfactory_epithelium | 0.72067199 |
| 66 | MP0002734_abnormal_mechanical_nocicepti | 0.72053348 |
| 67 | MP0008995_early_reproductive_senescence | 0.71686829 |
| 68 | MP0005084_abnormal_gallbladder_morpholo | 0.71645759 |
| 69 | MP0008872_abnormal_physiological_respon | 0.71523309 |
| 70 | MP0009053_abnormal_anal_canal | 0.70015136 |
| 71 | MP0009046_muscle_twitch | 0.69493089 |
| 72 | MP0000049_abnormal_middle_ear | 0.68573260 |
| 73 | MP0009115_abnormal_fat_cell | 0.68487460 |
| 74 | MP0002127_abnormal_cardiovascular_syste | 0.66795851 |
| 75 | MP0000534_abnormal_ureter_morphology | 0.66255145 |
| 76 | MP0002102_abnormal_ear_morphology | 0.66210908 |
| 77 | MP0005451_abnormal_body_composition | 0.66171245 |
| 78 | MP0002653_abnormal_ependyma_morphology | 0.65519984 |
| 79 | MP0003635_abnormal_synaptic_transmissio | 0.63248288 |
| 80 | MP0002928_abnormal_bile_duct | 0.62444783 |
| 81 | MP0005391_vision/eye_phenotype | 0.60982147 |
| 82 | MP0008569_lethality_at_weaning | 0.59158440 |
| 83 | MP0001440_abnormal_grooming_behavior | 0.59081264 |
| 84 | MP0008775_abnormal_heart_ventricle | 0.57711477 |
| 85 | MP0000516_abnormal_urinary_system | 0.57534804 |
| 86 | MP0005367_renal/urinary_system_phenotyp | 0.57534804 |
| 87 | MP0003787_abnormal_imprinting | 0.56625554 |
| 88 | MP0010329_abnormal_lipoprotein_level | 0.55661573 |
| 89 | MP0002837_dystrophic_cardiac_calcinosis | 0.55421055 |
| 90 | MP0004084_abnormal_cardiac_muscle | 0.51999308 |
| 91 | MP0005332_abnormal_amino_acid | 0.51891989 |
| 92 | MP0002752_abnormal_somatic_nervous | 0.51823300 |
| 93 | MP0009764_decreased_sensitivity_to | 0.51625626 |
| 94 | MP0002184_abnormal_innervation | 0.50104021 |
| 95 | MP0006072_abnormal_retinal_apoptosis | 0.48903428 |
| 96 | MP0005535_abnormal_body_temperature | 0.48195940 |
| 97 | MP0002882_abnormal_neuron_morphology | 0.47968760 |
| 98 | MP0002063_abnormal_learning/memory/cond | 0.47044069 |
| 99 | MP0004885_abnormal_endolymph | 0.46286386 |
| 100 | MP0001529_abnormal_vocalization | 0.45648785 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 6.75760471 |
| 2 | Chronic hepatic failure (HP:0100626) | 6.01126395 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.91663768 |
| 4 | Absent/shortened dynein arms (HP:0200106) | 5.91663768 |
| 5 | Tubulointerstitial nephritis (HP:0001970) | 5.78940816 |
| 6 | Attenuation of retinal blood vessels (HP:0007843) | 4.92550392 |
| 7 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.44956565 |
| 8 | Abnormal ciliary motility (HP:0012262) | 4.37346223 |
| 9 | Asymmetric septal hypertrophy (HP:0001670) | 4.25937286 |
| 10 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.23366728 |
| 11 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.14204333 |
| 12 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.14204333 |
| 13 | Abnormality of macular pigmentation (HP:0008002) | 4.01704948 |
| 14 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.94419750 |
| 15 | Cone-rod dystrophy (HP:0000548) | 3.85534187 |
| 16 | Nephronophthisis (HP:0000090) | 3.83167845 |
| 17 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.71793403 |
| 18 | Hyperkalemia (HP:0002153) | 3.67011126 |
| 19 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.41049204 |
| 20 | Nasal polyposis (HP:0100582) | 3.38614359 |
| 21 | Infertility (HP:0000789) | 3.35682578 |
| 22 | Abnormality of the renal medulla (HP:0100957) | 3.34371078 |
| 23 | Resting tremor (HP:0002322) | 3.29904289 |
| 24 | Male infertility (HP:0003251) | 3.27552069 |
| 25 | Impulsivity (HP:0100710) | 3.15244575 |
| 26 | Amelogenesis imperfecta (HP:0000705) | 3.13788491 |
| 27 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.13532843 |
| 28 | Progressive cerebellar ataxia (HP:0002073) | 3.12586472 |
| 29 | Potter facies (HP:0002009) | 3.09224694 |
| 30 | Facial shape deformation (HP:0011334) | 3.09224694 |
| 31 | Tubulointerstitial abnormality (HP:0001969) | 3.01606065 |
| 32 | Menstrual irregularities (HP:0000858) | 3.00000662 |
| 33 | Abnormality of dental color (HP:0011073) | 2.94799691 |
| 34 | Stage 5 chronic kidney disease (HP:0003774) | 2.93113407 |
| 35 | Hypoplasia of the thymus (HP:0000778) | 2.92885022 |
| 36 | Polydipsia (HP:0001959) | 2.90186688 |
| 37 | Abnormal drinking behavior (HP:0030082) | 2.90186688 |
| 38 | Progressive sensorineural hearing impairment (HP:0000408) | 2.86999779 |
| 39 | Hypoplastic ischia (HP:0003175) | 2.84896854 |
| 40 | Abnormal spermatogenesis (HP:0008669) | 2.79857734 |
| 41 | Abnormal urine output (HP:0012590) | 2.76707960 |
| 42 | Pancreatic cysts (HP:0001737) | 2.76136008 |
| 43 | Bell-shaped thorax (HP:0001591) | 2.72807518 |
| 44 | Truncal obesity (HP:0001956) | 2.72605252 |
| 45 | Pancreatic fibrosis (HP:0100732) | 2.71779904 |
| 46 | Hypoalphalipoproteinemia (HP:0003233) | 2.71443297 |
| 47 | Enlarged epiphyses (HP:0010580) | 2.63750433 |
| 48 | Azoospermia (HP:0000027) | 2.61771876 |
| 49 | Abnormality of the nasal mucosa (HP:0000433) | 2.61707578 |
| 50 | Insulin-resistant diabetes mellitus (HP:0000831) | 2.57566219 |
| 51 | Tubular atrophy (HP:0000092) | 2.54608529 |
| 52 | Polyuria (HP:0000103) | 2.54090262 |
| 53 | Rhinitis (HP:0012384) | 2.53501950 |
| 54 | Portal hypertension (HP:0001409) | 2.51950207 |
| 55 | Abnormality of the ischium (HP:0003174) | 2.47471364 |
| 56 | Renovascular hypertension (HP:0100817) | 2.45077436 |
| 57 | Postural instability (HP:0002172) | 2.44797458 |
| 58 | Optic nerve hypoplasia (HP:0000609) | 2.41572929 |
| 59 | Abnormality of renal excretion (HP:0011036) | 2.39208075 |
| 60 | Pendular nystagmus (HP:0012043) | 2.32534832 |
| 61 | True hermaphroditism (HP:0010459) | 2.30153140 |
| 62 | Abnormality of the hepatic vasculature (HP:0006707) | 2.29376443 |
| 63 | Abnormality of potassium homeostasis (HP:0011042) | 2.28761008 |
| 64 | Abnormality of the aortic arch (HP:0012303) | 2.28284506 |
| 65 | Abnormality of midbrain morphology (HP:0002418) | 2.27278996 |
| 66 | Molar tooth sign on MRI (HP:0002419) | 2.27278996 |
| 67 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.25547835 |
| 68 | Generalized aminoaciduria (HP:0002909) | 2.24874853 |
| 69 | Chronic bronchitis (HP:0004469) | 2.22839212 |
| 70 | Intellectual disability, moderate (HP:0002342) | 2.22251705 |
| 71 | Type II lissencephaly (HP:0007260) | 2.20367740 |
| 72 | Decreased central vision (HP:0007663) | 2.17495409 |
| 73 | Congenital sensorineural hearing impairment (HP:0008527) | 2.11170146 |
| 74 | Abnormality of the renal cortex (HP:0011035) | 2.07078195 |
| 75 | Hypoalbuminemia (HP:0003073) | 2.06317293 |
| 76 | Abnormal albumin level (HP:0012116) | 2.06317293 |
| 77 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.04688209 |
| 78 | Myokymia (HP:0002411) | 2.00159412 |
| 79 | Renal Fanconi syndrome (HP:0001994) | 1.97503305 |
| 80 | Congenital stationary night blindness (HP:0007642) | 1.96712898 |
| 81 | Cystic liver disease (HP:0006706) | 1.94017332 |
| 82 | Photophobia (HP:0000613) | 1.93877626 |
| 83 | Bronchiectasis (HP:0002110) | 1.92671873 |
| 84 | Cerebellar dysplasia (HP:0007033) | 1.91937309 |
| 85 | Occipital encephalocele (HP:0002085) | 1.89639879 |
| 86 | Focal segmental glomerulosclerosis (HP:0000097) | 1.89343177 |
| 87 | Abnormality of the costochondral junction (HP:0000919) | 1.86054864 |
| 88 | Increased purine levels (HP:0004368) | 1.85783981 |
| 89 | Hyperuricemia (HP:0002149) | 1.85783981 |
| 90 | Congenital malformation of the right heart (HP:0011723) | 1.85481321 |
| 91 | Double outlet right ventricle (HP:0001719) | 1.85481321 |
| 92 | Renal dysplasia (HP:0000110) | 1.83709645 |
| 93 | Glycosuria (HP:0003076) | 1.80416894 |
| 94 | Abnormality of urine glucose concentration (HP:0011016) | 1.80416894 |
| 95 | Progressive hearing impairment (HP:0001730) | 1.78399963 |
| 96 | Hypophosphatemic rickets (HP:0004912) | 1.76011801 |
| 97 | Growth hormone deficiency (HP:0000824) | 1.75586165 |
| 98 | Sclerocornea (HP:0000647) | 1.74577524 |
| 99 | Congenital hepatic fibrosis (HP:0002612) | 1.74375398 |
| 100 | Type II diabetes mellitus (HP:0005978) | 1.73618668 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 8.86111882 |
| 2 | INSRR | 4.67197913 |
| 3 | MAP4K2 | 4.05160064 |
| 4 | TESK1 | 3.70753776 |
| 5 | PLK2 | 3.69471781 |
| 6 | BRD4 | 3.56870717 |
| 7 | PNCK | 3.45270033 |
| 8 | DDR2 | 2.79198715 |
| 9 | STK38L | 2.43551583 |
| 10 | STK38 | 2.33735561 |
| 11 | CAMK1G | 2.33251041 |
| 12 | PIK3CG | 2.17460000 |
| 13 | FRK | 1.80783763 |
| 14 | MAPK15 | 1.58657639 |
| 15 | PRKD3 | 1.52947452 |
| 16 | WNK1 | 1.44165227 |
| 17 | PTK2B | 1.37996979 |
| 18 | BMPR1B | 1.32465082 |
| 19 | ADRBK2 | 1.23608275 |
| 20 | NUAK1 | 1.19354522 |
| 21 | TYRO3 | 1.16425569 |
| 22 | PDK1 | 1.14382139 |
| 23 | WNK4 | 1.12081197 |
| 24 | NEK6 | 1.09396247 |
| 25 | AKT3 | 1.05253145 |
| 26 | PDPK1 | 1.00090090 |
| 27 | MARK1 | 0.94493083 |
| 28 | STK39 | 0.91534205 |
| 29 | CAMK1D | 0.90787682 |
| 30 | BRSK2 | 0.88149401 |
| 31 | WNK3 | 0.86458470 |
| 32 | DYRK1B | 0.81659135 |
| 33 | TNIK | 0.81563139 |
| 34 | TIE1 | 0.81535091 |
| 35 | OXSR1 | 0.80906122 |
| 36 | CDK7 | 0.76618732 |
| 37 | MST1R | 0.76567378 |
| 38 | ZAK | 0.72138453 |
| 39 | SIK2 | 0.71789646 |
| 40 | CASK | 0.67558681 |
| 41 | CAMK1 | 0.67313040 |
| 42 | PRKG1 | 0.66550882 |
| 43 | MAP3K4 | 0.66410976 |
| 44 | CDK3 | 0.62641727 |
| 45 | ACVR1B | 0.61690445 |
| 46 | PRKCG | 0.61037889 |
| 47 | PINK1 | 0.60684124 |
| 48 | PRKG2 | 0.59705745 |
| 49 | GRK1 | 0.57931226 |
| 50 | PRKAA2 | 0.55733538 |
| 51 | MAPK13 | 0.55669817 |
| 52 | DYRK2 | 0.54782495 |
| 53 | LATS1 | 0.54464880 |
| 54 | NTRK3 | 0.47739289 |
| 55 | BRSK1 | 0.46463363 |
| 56 | CAMK4 | 0.44308797 |
| 57 | VRK1 | 0.43413520 |
| 58 | UHMK1 | 0.42023860 |
| 59 | ROCK1 | 0.41097404 |
| 60 | MKNK2 | 0.40326368 |
| 61 | BRAF | 0.39715244 |
| 62 | MAP3K11 | 0.39162083 |
| 63 | TRIM28 | 0.37345317 |
| 64 | GSK3B | 0.37128105 |
| 65 | PRKCE | 0.36774739 |
| 66 | MAP3K9 | 0.36590017 |
| 67 | CDK1 | 0.35618199 |
| 68 | RPS6KA1 | 0.35114757 |
| 69 | DAPK2 | 0.33987336 |
| 70 | PRKCZ | 0.33613907 |
| 71 | CDK2 | 0.32214079 |
| 72 | CDK12 | 0.32206372 |
| 73 | SGK223 | 0.32092464 |
| 74 | SGK494 | 0.32092464 |
| 75 | PKN1 | 0.31558593 |
| 76 | MAPK1 | 0.30936866 |
| 77 | MAPK8 | 0.29088083 |
| 78 | FER | 0.28998842 |
| 79 | CAMK2A | 0.28442697 |
| 80 | MAP2K2 | 0.26694194 |
| 81 | TLK1 | 0.24885365 |
| 82 | PRKCB | 0.23844961 |
| 83 | RPS6KA2 | 0.23227786 |
| 84 | PRKACA | 0.22335484 |
| 85 | FGFR2 | 0.22211676 |
| 86 | SGK1 | 0.21428004 |
| 87 | MUSK | 0.21324995 |
| 88 | TAOK3 | 0.21003516 |
| 89 | CHEK1 | 0.19909591 |
| 90 | PLK1 | 0.19575004 |
| 91 | PAK3 | 0.19295691 |
| 92 | MAPK14 | 0.18579263 |
| 93 | CDK19 | 0.18228662 |
| 94 | MAP2K7 | 0.18022267 |
| 95 | CSNK1A1 | 0.17407391 |
| 96 | PRKACB | 0.16895474 |
| 97 | RPS6KA6 | 0.14736359 |
| 98 | CSNK1D | 0.13588271 |
| 99 | PRKAA1 | 0.13577061 |
| 100 | DYRK3 | 0.13552590 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.90311784 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.51820692 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 3.74808898 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.97862219 |
| 5 | Phototransduction_Homo sapiens_hsa04744 | 2.43306725 |
| 6 | Taste transduction_Homo sapiens_hsa04742 | 2.04453360 |
| 7 | RNA transport_Homo sapiens_hsa03013 | 2.01193868 |
| 8 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.93933653 |
| 9 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.88893855 |
| 10 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.70521967 |
| 11 | Nicotine addiction_Homo sapiens_hsa05033 | 1.65602879 |
| 12 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.52483744 |
| 13 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.49437431 |
| 14 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.46246147 |
| 15 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.33572997 |
| 16 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.33139515 |
| 17 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.32663561 |
| 18 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.28954517 |
| 19 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.24552010 |
| 20 | Morphine addiction_Homo sapiens_hsa05032 | 1.23948972 |
| 21 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.20369242 |
| 22 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.19775420 |
| 23 | Allograft rejection_Homo sapiens_hsa05330 | 1.18792569 |
| 24 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.17818357 |
| 25 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.16221207 |
| 26 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.15612030 |
| 27 | Salivary secretion_Homo sapiens_hsa04970 | 1.13804382 |
| 28 | ABC transporters_Homo sapiens_hsa02010 | 1.13152233 |
| 29 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.11708174 |
| 30 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.09340514 |
| 31 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.06604436 |
| 32 | Basal transcription factors_Homo sapiens_hsa03022 | 1.05405860 |
| 33 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.04525205 |
| 34 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.03346719 |
| 35 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.00853632 |
| 36 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.99359938 |
| 37 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.99050290 |
| 38 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.98170735 |
| 39 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.98047948 |
| 40 | Circadian entrainment_Homo sapiens_hsa04713 | 0.97967285 |
| 41 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.97823107 |
| 42 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.94199787 |
| 43 | Retinol metabolism_Homo sapiens_hsa00830 | 0.93359231 |
| 44 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.90310276 |
| 45 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.89727052 |
| 46 | Insulin secretion_Homo sapiens_hsa04911 | 0.88951472 |
| 47 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.86210053 |
| 48 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.85804478 |
| 49 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.81481685 |
| 50 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.80037504 |
| 51 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.79993321 |
| 52 | Huntingtons disease_Homo sapiens_hsa05016 | 0.78619831 |
| 53 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.78016265 |
| 54 | GABAergic synapse_Homo sapiens_hsa04727 | 0.74501615 |
| 55 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.74184175 |
| 56 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.70358595 |
| 57 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.70281670 |
| 58 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.69991357 |
| 59 | Purine metabolism_Homo sapiens_hsa00230 | 0.65436346 |
| 60 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.65373701 |
| 61 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.62827875 |
| 62 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.61357752 |
| 63 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.60762362 |
| 64 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.60385390 |
| 65 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.57152315 |
| 66 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.53922788 |
| 67 | Homologous recombination_Homo sapiens_hsa03440 | 0.53841496 |
| 68 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.53694674 |
| 69 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.53101277 |
| 70 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.52470531 |
| 71 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.52256292 |
| 72 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.51892995 |
| 73 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.50135541 |
| 74 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.48545991 |
| 75 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.48536618 |
| 76 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 0.47318127 |
| 77 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.46420736 |
| 78 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.45873362 |
| 79 | Renin secretion_Homo sapiens_hsa04924 | 0.44839438 |
| 80 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.44714055 |
| 81 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.44455379 |
| 82 | Metabolic pathways_Homo sapiens_hsa01100 | 0.44057359 |
| 83 | Peroxisome_Homo sapiens_hsa04146 | 0.43199891 |
| 84 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.43126180 |
| 85 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.43056103 |
| 86 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.41516173 |
| 87 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.41060990 |
| 88 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.40011908 |
| 89 | Viral myocarditis_Homo sapiens_hsa05416 | 0.39930080 |
| 90 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.37296449 |
| 91 | Bile secretion_Homo sapiens_hsa04976 | 0.36060611 |
| 92 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.35241937 |
| 93 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.33214352 |
| 94 | Sulfur relay system_Homo sapiens_hsa04122 | 0.33084166 |
| 95 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.30758008 |
| 96 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.30625607 |
| 97 | Endocytosis_Homo sapiens_hsa04144 | 0.29257998 |
| 98 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.28895578 |
| 99 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.28467847 |
| 100 | RNA degradation_Homo sapiens_hsa03018 | 0.28212067 |

