

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm motility (GO:0030317) | 7.83888949 |
| 2 | acrosome reaction (GO:0007340) | 6.81012566 |
| 3 | fusion of sperm to egg plasma membrane (GO:0007342) | 6.30494263 |
| 4 | response to pheromone (GO:0019236) | 6.26164345 |
| 5 | protein polyglutamylation (GO:0018095) | 6.21151585 |
| 6 | centriole replication (GO:0007099) | 6.07312354 |
| 7 | microtubule depolymerization (GO:0007019) | 5.61368600 |
| 8 | establishment of protein localization to Golgi (GO:0072600) | 5.49290069 |
| 9 | protein targeting to Golgi (GO:0000042) | 5.45247887 |
| 10 | multicellular organism reproduction (GO:0032504) | 5.44228775 |
| 11 | spermatid development (GO:0007286) | 5.26499642 |
| 12 | regulation of cilium movement (GO:0003352) | 5.22792676 |
| 13 | epithelial cilium movement (GO:0003351) | 5.17012291 |
| 14 | microtubule polymerization or depolymerization (GO:0031109) | 4.98573914 |
| 15 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 4.96585894 |
| 16 | axonemal dynein complex assembly (GO:0070286) | 4.92769114 |
| 17 | regulation of centriole replication (GO:0046599) | 4.89170085 |
| 18 | centriole assembly (GO:0098534) | 4.84247044 |
| 19 | plasma membrane fusion (GO:0045026) | 4.81364971 |
| 20 | single strand break repair (GO:0000012) | 4.75627942 |
| 21 | behavioral response to nicotine (GO:0035095) | 4.71541952 |
| 22 | sperm-egg recognition (GO:0035036) | 4.68938741 |
| 23 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 4.46005207 |
| 24 | cellular ketone body metabolic process (GO:0046950) | 4.42065924 |
| 25 | rRNA methylation (GO:0031167) | 4.41831649 |
| 26 | calcium ion-dependent exocytosis (GO:0017156) | 4.38792036 |
| 27 | sperm capacitation (GO:0048240) | 4.37163145 |
| 28 | protein localization to Golgi apparatus (GO:0034067) | 4.27959210 |
| 29 | cilium movement (GO:0003341) | 4.25633878 |
| 30 | reproduction (GO:0000003) | 4.24391135 |
| 31 | spermatogenesis (GO:0007283) | 4.19399753 |
| 32 | male gamete generation (GO:0048232) | 4.19301146 |
| 33 | seminiferous tubule development (GO:0072520) | 4.16777844 |
| 34 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.10068073 |
| 35 | chromosome condensation (GO:0030261) | 4.05801052 |
| 36 | DNA packaging (GO:0006323) | 4.02792211 |
| 37 | ketone body metabolic process (GO:1902224) | 3.98482230 |
| 38 | rRNA modification (GO:0000154) | 3.96060531 |
| 39 | cell-cell recognition (GO:0009988) | 3.87377870 |
| 40 | gamete generation (GO:0007276) | 3.86772695 |
| 41 | organic cation transport (GO:0015695) | 3.81332175 |
| 42 | regulation of microtubule-based movement (GO:0060632) | 3.78673523 |
| 43 | spermatid nucleus differentiation (GO:0007289) | 3.77272035 |
| 44 | piRNA metabolic process (GO:0034587) | 3.65628392 |
| 45 | single fertilization (GO:0007338) | 3.64109661 |
| 46 | axoneme assembly (GO:0035082) | 3.59322244 |
| 47 | binding of sperm to zona pellucida (GO:0007339) | 3.58763232 |
| 48 | motile cilium assembly (GO:0044458) | 3.57121886 |
| 49 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 3.51635755 |
| 50 | male meiosis I (GO:0007141) | 3.48488697 |
| 51 | microtubule severing (GO:0051013) | 3.33791020 |
| 52 | phosphatidylethanolamine metabolic process (GO:0046337) | 3.33721361 |
| 53 | male meiosis (GO:0007140) | 3.31579058 |
| 54 | DNA methylation involved in gamete generation (GO:0043046) | 3.27522828 |
| 55 | fertilization (GO:0009566) | 3.22025570 |
| 56 | detection of light stimulus involved in visual perception (GO:0050908) | 3.17729392 |
| 57 | detection of light stimulus involved in sensory perception (GO:0050962) | 3.17729392 |
| 58 | spinal cord motor neuron differentiation (GO:0021522) | 3.13795959 |
| 59 | regulation of Rab GTPase activity (GO:0032313) | 3.13281580 |
| 60 | positive regulation of Rab GTPase activity (GO:0032851) | 3.13281580 |
| 61 | L-fucose catabolic process (GO:0042355) | 3.07709577 |
| 62 | fucose catabolic process (GO:0019317) | 3.07709577 |
| 63 | L-fucose metabolic process (GO:0042354) | 3.07709577 |
| 64 | RNA destabilization (GO:0050779) | 3.03773385 |
| 65 | primary amino compound metabolic process (GO:1901160) | 3.03012660 |
| 66 | germ cell development (GO:0007281) | 3.02766981 |
| 67 | multicellular organismal reproductive process (GO:0048609) | 3.02019913 |
| 68 | cilium organization (GO:0044782) | 3.01731112 |
| 69 | cell wall macromolecule metabolic process (GO:0044036) | 2.98168453 |
| 70 | cilium assembly (GO:0042384) | 2.95935236 |
| 71 | tryptophan catabolic process (GO:0006569) | 2.95381008 |
| 72 | indole-containing compound catabolic process (GO:0042436) | 2.95381008 |
| 73 | indolalkylamine catabolic process (GO:0046218) | 2.95381008 |
| 74 | synapsis (GO:0007129) | 2.90688289 |
| 75 | regulation of glucokinase activity (GO:0033131) | 2.86866175 |
| 76 | regulation of hexokinase activity (GO:1903299) | 2.86866175 |
| 77 | microtubule nucleation (GO:0007020) | 2.85417540 |
| 78 | indolalkylamine metabolic process (GO:0006586) | 2.84884238 |
| 79 | nephron tubule morphogenesis (GO:0072078) | 2.84751366 |
| 80 | nephron epithelium morphogenesis (GO:0072088) | 2.84751366 |
| 81 | cell wall macromolecule catabolic process (GO:0016998) | 2.84672252 |
| 82 | alanine transport (GO:0032328) | 2.82110914 |
| 83 | regulation of centrosome duplication (GO:0010824) | 2.77582577 |
| 84 | negative regulation of telomere maintenance (GO:0032205) | 2.77325718 |
| 85 | positive regulation of gastrulation (GO:2000543) | 2.74412160 |
| 86 | multicellular organismal movement (GO:0050879) | 2.69366935 |
| 87 | musculoskeletal movement (GO:0050881) | 2.69366935 |
| 88 | regulation of meiosis I (GO:0060631) | 2.68281402 |
| 89 | kynurenine metabolic process (GO:0070189) | 2.67650606 |
| 90 | cellular biogenic amine catabolic process (GO:0042402) | 2.66802896 |
| 91 | amine catabolic process (GO:0009310) | 2.66802896 |
| 92 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.64832200 |
| 93 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 2.63623544 |
| 94 | DNA deamination (GO:0045006) | 2.59417146 |
| 95 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 2.58581437 |
| 96 | protein localization to cilium (GO:0061512) | 2.57964231 |
| 97 | nonmotile primary cilium assembly (GO:0035058) | 2.57957751 |
| 98 | cellular biogenic amine biosynthetic process (GO:0042401) | 2.56965400 |
| 99 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.56753504 |
| 100 | somite rostral/caudal axis specification (GO:0032525) | 2.55106318 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ZNF274_21170338_ChIP-Seq_K562_Hela | 3.36151075 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 3.35480854 |
| 3 | VDR_22108803_ChIP-Seq_LS180_Human | 3.07869763 |
| 4 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.00875487 |
| 5 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.46277739 |
| 6 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.45632940 |
| 7 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.41160936 |
| 8 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.35467406 |
| 9 | FUS_26573619_Chip-Seq_HEK293_Human | 2.34664249 |
| 10 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 2.32794930 |
| 11 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.12450836 |
| 12 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.08643033 |
| 13 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 2.07804188 |
| 14 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.06455778 |
| 15 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.06455778 |
| 16 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 2.04115284 |
| 17 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.00102361 |
| 18 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.00102361 |
| 19 | P300_19829295_ChIP-Seq_ESCs_Human | 1.91508300 |
| 20 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.80273907 |
| 21 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.74490143 |
| 22 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.71984612 |
| 23 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.71951044 |
| 24 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.71486170 |
| 25 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.69059734 |
| 26 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.68724799 |
| 27 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.57620376 |
| 28 | AR_25329375_ChIP-Seq_VCAP_Human | 1.52674658 |
| 29 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.52584303 |
| 30 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.52321868 |
| 31 | ERA_21632823_ChIP-Seq_H3396_Human | 1.51108499 |
| 32 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.50655336 |
| 33 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.50215775 |
| 34 | STAT3_23295773_ChIP-Seq_U87_Human | 1.49317474 |
| 35 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.49047513 |
| 36 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.47554623 |
| 37 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.47190150 |
| 38 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.44661310 |
| 39 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.43959793 |
| 40 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.43566284 |
| 41 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.41373980 |
| 42 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.40691547 |
| 43 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.39888272 |
| 44 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.39505343 |
| 45 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.37678965 |
| 46 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.37459239 |
| 47 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.36401428 |
| 48 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.36068504 |
| 49 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.35014788 |
| 50 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.35014788 |
| 51 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.33511609 |
| 52 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.33418853 |
| 53 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.33398483 |
| 54 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.32548359 |
| 55 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.31922900 |
| 56 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.31799778 |
| 57 | EWS_26573619_Chip-Seq_HEK293_Human | 1.31638780 |
| 58 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.31482507 |
| 59 | TCF4_23295773_ChIP-Seq_U87_Human | 1.31156028 |
| 60 | NCOR_22424771_ChIP-Seq_293T_Human | 1.30667555 |
| 61 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.30257111 |
| 62 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.30257111 |
| 63 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.29971839 |
| 64 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.28757516 |
| 65 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.28742001 |
| 66 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.28377130 |
| 67 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.25870353 |
| 68 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.24442698 |
| 69 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.24029001 |
| 70 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.22845306 |
| 71 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.21951025 |
| 72 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.18460957 |
| 73 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.18318554 |
| 74 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.17210930 |
| 75 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.16994615 |
| 76 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.16929424 |
| 77 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.16348234 |
| 78 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.14801502 |
| 79 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.14593737 |
| 80 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.13872274 |
| 81 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.13528730 |
| 82 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.12683134 |
| 83 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.12379402 |
| 84 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.12114733 |
| 85 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.11920605 |
| 86 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.11006164 |
| 87 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.10813421 |
| 88 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.10480845 |
| 89 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.10337621 |
| 90 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.10202881 |
| 91 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.09610890 |
| 92 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.09389282 |
| 93 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.08313857 |
| 94 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.06931956 |
| 95 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.06417009 |
| 96 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.06399351 |
| 97 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.05549829 |
| 98 | NFYB_21822215_ChIP-Seq_K562_Human | 1.04484310 |
| 99 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.03770770 |
| 100 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.03412429 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 6.00827030 |
| 2 | MP0008877_abnormal_DNA_methylation | 3.26481439 |
| 3 | MP0005377_hearing/vestibular/ear_phenot | 3.10226740 |
| 4 | MP0003878_abnormal_ear_physiology | 3.10226740 |
| 5 | MP0003698_abnormal_male_reproductive | 2.61746452 |
| 6 | MP0001929_abnormal_gametogenesis | 2.45378201 |
| 7 | MP0006292_abnormal_olfactory_placode | 2.24211548 |
| 8 | MP0001968_abnormal_touch/_nociception | 2.20883816 |
| 9 | MP0005551_abnormal_eye_electrophysiolog | 2.13302243 |
| 10 | MP0003646_muscle_fatigue | 2.12547672 |
| 11 | MP0001485_abnormal_pinna_reflex | 2.03158491 |
| 12 | MP0003195_calcinosis | 1.98046517 |
| 13 | MP0002876_abnormal_thyroid_physiology | 1.88415705 |
| 14 | MP0004742_abnormal_vestibular_system | 1.81824207 |
| 15 | MP0003718_maternal_effect | 1.79552248 |
| 16 | MP0002102_abnormal_ear_morphology | 1.78773127 |
| 17 | MP0003011_delayed_dark_adaptation | 1.76674478 |
| 18 | MP0002735_abnormal_chemical_nociception | 1.74158997 |
| 19 | MP0003787_abnormal_imprinting | 1.69774278 |
| 20 | MP0002653_abnormal_ependyma_morphology | 1.68123980 |
| 21 | MP0001486_abnormal_startle_reflex | 1.65674178 |
| 22 | MP0003880_abnormal_central_pattern | 1.62528833 |
| 23 | MP0005253_abnormal_eye_physiology | 1.62208287 |
| 24 | MP0006276_abnormal_autonomic_nervous | 1.59711691 |
| 25 | MP0003283_abnormal_digestive_organ | 1.55497607 |
| 26 | MP0002138_abnormal_hepatobiliary_system | 1.52154755 |
| 27 | MP0008872_abnormal_physiological_respon | 1.50644932 |
| 28 | MP0002210_abnormal_sex_determination | 1.50548353 |
| 29 | MP0009745_abnormal_behavioral_response | 1.50224826 |
| 30 | MP0009046_muscle_twitch | 1.46872061 |
| 31 | MP0001348_abnormal_lacrimal_gland | 1.46236276 |
| 32 | MP0002736_abnormal_nociception_after | 1.45064367 |
| 33 | MP0005645_abnormal_hypothalamus_physiol | 1.44523314 |
| 34 | MP0002557_abnormal_social/conspecific_i | 1.43662533 |
| 35 | MP0002272_abnormal_nervous_system | 1.43594065 |
| 36 | MP0005379_endocrine/exocrine_gland_phen | 1.42491578 |
| 37 | MP0005670_abnormal_white_adipose | 1.40716634 |
| 38 | MP0002161_abnormal_fertility/fecundity | 1.35843725 |
| 39 | MP0002837_dystrophic_cardiac_calcinosis | 1.34789573 |
| 40 | MP0008995_early_reproductive_senescence | 1.31354648 |
| 41 | MP0006072_abnormal_retinal_apoptosis | 1.31053734 |
| 42 | MP0002572_abnormal_emotion/affect_behav | 1.29138557 |
| 43 | MP0004142_abnormal_muscle_tone | 1.28364174 |
| 44 | MP0002938_white_spotting | 1.26985039 |
| 45 | MP0003136_yellow_coat_color | 1.26069541 |
| 46 | MP0001986_abnormal_taste_sensitivity | 1.24254379 |
| 47 | MP0004133_heterotaxia | 1.23552166 |
| 48 | MP0001501_abnormal_sleep_pattern | 1.23400563 |
| 49 | MP0001145_abnormal_male_reproductive | 1.23105468 |
| 50 | MP0002160_abnormal_reproductive_system | 1.22681928 |
| 51 | MP0000653_abnormal_sex_gland | 1.21851848 |
| 52 | MP0002733_abnormal_thermal_nociception | 1.20355187 |
| 53 | MP0000569_abnormal_digit_pigmentation | 1.18360179 |
| 54 | MP0001984_abnormal_olfaction | 1.17790884 |
| 55 | MP0002067_abnormal_sensory_capabilities | 1.17664165 |
| 56 | MP0000427_abnormal_hair_cycle | 1.15602329 |
| 57 | MP0002234_abnormal_pharynx_morphology | 1.12907887 |
| 58 | MP0005389_reproductive_system_phenotype | 1.10039484 |
| 59 | MP0005646_abnormal_pituitary_gland | 1.09714967 |
| 60 | MP0001963_abnormal_hearing_physiology | 1.07146108 |
| 61 | MP0005084_abnormal_gallbladder_morpholo | 1.06707773 |
| 62 | MP0001905_abnormal_dopamine_level | 1.03999236 |
| 63 | MP0002928_abnormal_bile_duct | 1.03258535 |
| 64 | MP0001970_abnormal_pain_threshold | 1.02955817 |
| 65 | MP0000631_abnormal_neuroendocrine_gland | 1.02342061 |
| 66 | MP0005423_abnormal_somatic_nervous | 0.99673618 |
| 67 | MP0005332_abnormal_amino_acid | 0.99324408 |
| 68 | MP0000026_abnormal_inner_ear | 0.97828222 |
| 69 | MP0001440_abnormal_grooming_behavior | 0.95792707 |
| 70 | MP0003879_abnormal_hair_cell | 0.95295733 |
| 71 | MP0004885_abnormal_endolymph | 0.94395386 |
| 72 | MP0001919_abnormal_reproductive_system | 0.93158991 |
| 73 | MP0003635_abnormal_synaptic_transmissio | 0.91732879 |
| 74 | MP0008875_abnormal_xenobiotic_pharmacok | 0.91678423 |
| 75 | MP0001529_abnormal_vocalization | 0.91632410 |
| 76 | MP0002063_abnormal_learning/memory/cond | 0.91326375 |
| 77 | MP0002064_seizures | 0.90893970 |
| 78 | MP0000049_abnormal_middle_ear | 0.90260095 |
| 79 | MP0003137_abnormal_impulse_conducting | 0.89950936 |
| 80 | MP0002229_neurodegeneration | 0.89919148 |
| 81 | MP0010386_abnormal_urinary_bladder | 0.87491533 |
| 82 | MP0002282_abnormal_trachea_morphology | 0.85182048 |
| 83 | MP0003121_genomic_imprinting | 0.83871832 |
| 84 | MP0005310_abnormal_salivary_gland | 0.83157874 |
| 85 | MP0002638_abnormal_pupillary_reflex | 0.83036411 |
| 86 | MP0005167_abnormal_blood-brain_barrier | 0.82340158 |
| 87 | MP0000955_abnormal_spinal_cord | 0.81400053 |
| 88 | MP0000230_abnormal_systemic_arterial | 0.81064005 |
| 89 | MP0002734_abnormal_mechanical_nocicepti | 0.79499820 |
| 90 | MP0005386_behavior/neurological_phenoty | 0.79341846 |
| 91 | MP0004924_abnormal_behavior | 0.79341846 |
| 92 | MP0002184_abnormal_innervation | 0.79082850 |
| 93 | MP0002822_catalepsy | 0.77614225 |
| 94 | MP0008775_abnormal_heart_ventricle | 0.77276425 |
| 95 | MP0001765_abnormal_ion_homeostasis | 0.75616631 |
| 96 | MP0001293_anophthalmia | 0.75278343 |
| 97 | MP0000372_irregular_coat_pigmentation | 0.74016528 |
| 98 | MP0004085_abnormal_heartbeat | 0.73979483 |
| 99 | MP0005195_abnormal_posterior_eye | 0.72772273 |
| 100 | MP0002752_abnormal_somatic_nervous | 0.72674741 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Chronic hepatic failure (HP:0100626) | 5.09580035 |
| 2 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 4.53385589 |
| 3 | Absent/shortened dynein arms (HP:0200106) | 4.53385589 |
| 4 | Pancreatic cysts (HP:0001737) | 4.01796787 |
| 5 | Tubulointerstitial nephritis (HP:0001970) | 3.98375762 |
| 6 | Nephronophthisis (HP:0000090) | 3.87838034 |
| 7 | Attenuation of retinal blood vessels (HP:0007843) | 3.69181176 |
| 8 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.65562872 |
| 9 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.65562872 |
| 10 | Pancreatic fibrosis (HP:0100732) | 3.64127830 |
| 11 | Abnormal ciliary motility (HP:0012262) | 3.53986911 |
| 12 | Molar tooth sign on MRI (HP:0002419) | 3.49976267 |
| 13 | Abnormality of midbrain morphology (HP:0002418) | 3.49976267 |
| 14 | Severe visual impairment (HP:0001141) | 3.46380740 |
| 15 | True hermaphroditism (HP:0010459) | 3.39027576 |
| 16 | Abnormality of the renal medulla (HP:0100957) | 3.35895397 |
| 17 | Abnormality of macular pigmentation (HP:0008002) | 3.24682959 |
| 18 | Type II lissencephaly (HP:0007260) | 3.17954513 |
| 19 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.13742681 |
| 20 | Abnormality of the renal cortex (HP:0011035) | 3.11676151 |
| 21 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.04589661 |
| 22 | Abnormal drinking behavior (HP:0030082) | 3.03641273 |
| 23 | Polydipsia (HP:0001959) | 3.03641273 |
| 24 | Congenital stationary night blindness (HP:0007642) | 3.01497060 |
| 25 | Pendular nystagmus (HP:0012043) | 2.99492637 |
| 26 | Progressive cerebellar ataxia (HP:0002073) | 2.98167918 |
| 27 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.94451190 |
| 28 | Cystic liver disease (HP:0006706) | 2.82112173 |
| 29 | Decreased central vision (HP:0007663) | 2.64141529 |
| 30 | Tubular atrophy (HP:0000092) | 2.57062409 |
| 31 | Amelogenesis imperfecta (HP:0000705) | 2.52599289 |
| 32 | Sclerocornea (HP:0000647) | 2.51185230 |
| 33 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.50617630 |
| 34 | Polyuria (HP:0000103) | 2.46390960 |
| 35 | Medial flaring of the eyebrow (HP:0010747) | 2.43722984 |
| 36 | Cerebellar dysplasia (HP:0007033) | 2.40854489 |
| 37 | Abnormality of dental color (HP:0011073) | 2.40588234 |
| 38 | Tubulointerstitial abnormality (HP:0001969) | 2.28143056 |
| 39 | Infertility (HP:0000789) | 2.27688928 |
| 40 | Abnormal urine output (HP:0012590) | 2.26793656 |
| 41 | Hypoalbuminemia (HP:0003073) | 2.26761738 |
| 42 | Abnormal albumin level (HP:0012116) | 2.26761738 |
| 43 | Hyperkalemia (HP:0002153) | 2.20998097 |
| 44 | Stage 5 chronic kidney disease (HP:0003774) | 2.17776001 |
| 45 | Inability to walk (HP:0002540) | 2.17361549 |
| 46 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.14784811 |
| 47 | Potter facies (HP:0002009) | 2.12997545 |
| 48 | Facial shape deformation (HP:0011334) | 2.12997545 |
| 49 | Optic nerve hypoplasia (HP:0000609) | 2.09964588 |
| 50 | Anencephaly (HP:0002323) | 2.09829110 |
| 51 | Abolished electroretinogram (ERG) (HP:0000550) | 2.08096200 |
| 52 | Impulsivity (HP:0100710) | 2.07245065 |
| 53 | Renal cortical cysts (HP:0000803) | 2.06867003 |
| 54 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.04260411 |
| 55 | Congenital hepatic fibrosis (HP:0002612) | 2.03114687 |
| 56 | Genetic anticipation (HP:0003743) | 2.02887653 |
| 57 | Male pseudohermaphroditism (HP:0000037) | 1.96458565 |
| 58 | Hyperventilation (HP:0002883) | 1.96394143 |
| 59 | Birth length less than 3rd percentile (HP:0003561) | 1.96340786 |
| 60 | Large for gestational age (HP:0001520) | 1.94587711 |
| 61 | Abnormality of renal excretion (HP:0011036) | 1.94056360 |
| 62 | Increased corneal curvature (HP:0100692) | 1.91547302 |
| 63 | Keratoconus (HP:0000563) | 1.91547302 |
| 64 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 1.91432271 |
| 65 | Gait imbalance (HP:0002141) | 1.87724840 |
| 66 | Lissencephaly (HP:0001339) | 1.86854103 |
| 67 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.85224549 |
| 68 | Retinal dysplasia (HP:0007973) | 1.84958342 |
| 69 | Rhinitis (HP:0012384) | 1.84838336 |
| 70 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 1.82894491 |
| 71 | Hypoplastic ischia (HP:0003175) | 1.82742645 |
| 72 | Postaxial foot polydactyly (HP:0001830) | 1.82581477 |
| 73 | Occipital encephalocele (HP:0002085) | 1.82451092 |
| 74 | Congenital sensorineural hearing impairment (HP:0008527) | 1.81543101 |
| 75 | Decreased circulating renin level (HP:0003351) | 1.80776960 |
| 76 | Azoospermia (HP:0000027) | 1.77984450 |
| 77 | Congenital primary aphakia (HP:0007707) | 1.77207599 |
| 78 | Ectopic kidney (HP:0000086) | 1.73859995 |
| 79 | Patellar aplasia (HP:0006443) | 1.73822475 |
| 80 | Truncal obesity (HP:0001956) | 1.72488456 |
| 81 | Cone-rod dystrophy (HP:0000548) | 1.71141486 |
| 82 | Dyskinesia (HP:0100660) | 1.70641326 |
| 83 | Abnormality of the ileum (HP:0001549) | 1.69523243 |
| 84 | Renovascular hypertension (HP:0100817) | 1.68922144 |
| 85 | Genital tract atresia (HP:0001827) | 1.68577175 |
| 86 | Gaze-evoked nystagmus (HP:0000640) | 1.68389768 |
| 87 | Concave nail (HP:0001598) | 1.68143358 |
| 88 | Aplasia/Hypoplasia of the patella (HP:0006498) | 1.67491527 |
| 89 | Vaginal atresia (HP:0000148) | 1.64703407 |
| 90 | Absent thumb (HP:0009777) | 1.63311974 |
| 91 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 1.62649677 |
| 92 | Abnormality of alanine metabolism (HP:0010916) | 1.62649677 |
| 93 | Hyperalaninemia (HP:0003348) | 1.62649677 |
| 94 | Sloping forehead (HP:0000340) | 1.62486160 |
| 95 | Anterior segment dysgenesis (HP:0007700) | 1.62308891 |
| 96 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 1.60531239 |
| 97 | Abnormality of potassium homeostasis (HP:0011042) | 1.60157909 |
| 98 | Abnormal spermatogenesis (HP:0008669) | 1.59397693 |
| 99 | Abnormality of the pons (HP:0007361) | 1.59214773 |
| 100 | Absent speech (HP:0001344) | 1.58313391 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 5.98030273 |
| 2 | INSRR | 4.24734236 |
| 3 | FRK | 3.98141536 |
| 4 | PNCK | 3.18409365 |
| 5 | BMPR1B | 2.73585426 |
| 6 | MAP4K2 | 2.61220886 |
| 7 | WNK4 | 2.61116146 |
| 8 | ADRBK2 | 2.58115525 |
| 9 | PLK2 | 2.55428164 |
| 10 | TLK1 | 2.21383347 |
| 11 | ZAK | 2.20995476 |
| 12 | WNK3 | 2.20049124 |
| 13 | PINK1 | 2.15182828 |
| 14 | NUAK1 | 1.84460023 |
| 15 | BRD4 | 1.60477602 |
| 16 | GRK1 | 1.58599117 |
| 17 | CAMK1G | 1.51612929 |
| 18 | CASK | 1.49772660 |
| 19 | MAPK15 | 1.44593450 |
| 20 | MAPK13 | 1.36277181 |
| 21 | STK38L | 1.36069365 |
| 22 | MAP3K4 | 1.30368714 |
| 23 | STK39 | 1.25879224 |
| 24 | ACVR1B | 1.24496579 |
| 25 | TAOK3 | 1.18144853 |
| 26 | PRKD3 | 1.16408868 |
| 27 | TRIM28 | 1.14479666 |
| 28 | PTK2B | 1.09864657 |
| 29 | PIK3CG | 1.09257948 |
| 30 | MARK1 | 1.03493943 |
| 31 | DAPK2 | 1.03253523 |
| 32 | MKNK2 | 1.01983547 |
| 33 | STK38 | 0.98780716 |
| 34 | TESK1 | 0.97567525 |
| 35 | WNK1 | 0.93613480 |
| 36 | TNIK | 0.93597763 |
| 37 | CAMK1D | 0.93329736 |
| 38 | PRKCG | 0.93205960 |
| 39 | NEK2 | 0.90981035 |
| 40 | PAK3 | 0.89891992 |
| 41 | OXSR1 | 0.89128266 |
| 42 | PIK3CA | 0.86264900 |
| 43 | SIK2 | 0.84569262 |
| 44 | MAP2K2 | 0.82544161 |
| 45 | NEK6 | 0.80510615 |
| 46 | VRK1 | 0.79497684 |
| 47 | TXK | 0.79108976 |
| 48 | MAP2K7 | 0.74380833 |
| 49 | CAMKK2 | 0.73902602 |
| 50 | TIE1 | 0.72368290 |
| 51 | PRKCE | 0.71055196 |
| 52 | PRKCH | 0.70931961 |
| 53 | MUSK | 0.70107915 |
| 54 | CAMK1 | 0.67581666 |
| 55 | ADRBK1 | 0.66166667 |
| 56 | DDR2 | 0.65847589 |
| 57 | DYRK2 | 0.62857364 |
| 58 | TYRO3 | 0.61883122 |
| 59 | NTRK2 | 0.60741549 |
| 60 | PLK1 | 0.57065661 |
| 61 | CDK3 | 0.56880984 |
| 62 | NTRK3 | 0.55994137 |
| 63 | IKBKB | 0.54019299 |
| 64 | BRSK2 | 0.53496571 |
| 65 | TGFBR1 | 0.52498879 |
| 66 | PDK1 | 0.52132878 |
| 67 | WEE1 | 0.51098240 |
| 68 | PKN1 | 0.51093590 |
| 69 | PRKAA2 | 0.50724795 |
| 70 | PRKD2 | 0.50438951 |
| 71 | NME1 | 0.48180343 |
| 72 | FGFR2 | 0.47945934 |
| 73 | PHKG2 | 0.46201372 |
| 74 | PHKG1 | 0.46201372 |
| 75 | STK16 | 0.45564200 |
| 76 | RPS6KA5 | 0.44759353 |
| 77 | PRKACA | 0.44621305 |
| 78 | PRKCZ | 0.44263808 |
| 79 | PRKCQ | 0.43886021 |
| 80 | PRKG1 | 0.43084605 |
| 81 | CAMK2A | 0.42939465 |
| 82 | VRK2 | 0.42484400 |
| 83 | PRKAA1 | 0.40381609 |
| 84 | PDPK1 | 0.38654556 |
| 85 | CHUK | 0.34283295 |
| 86 | RPS6KA6 | 0.33897727 |
| 87 | DYRK1B | 0.33732513 |
| 88 | CAMK4 | 0.33281666 |
| 89 | PASK | 0.33039076 |
| 90 | CSNK1A1 | 0.31962910 |
| 91 | CSNK1D | 0.31591036 |
| 92 | ATM | 0.31039600 |
| 93 | SGK494 | 0.30591102 |
| 94 | SGK223 | 0.30591102 |
| 95 | CDK1 | 0.28929659 |
| 96 | UHMK1 | 0.28459016 |
| 97 | AKT3 | 0.28291293 |
| 98 | GSK3B | 0.28233768 |
| 99 | CHEK2 | 0.28124250 |
| 100 | ERBB2 | 0.27574354 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.87730904 |
| 2 | Phototransduction_Homo sapiens_hsa04744 | 2.96180382 |
| 3 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.69812223 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.60143858 |
| 5 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.50714242 |
| 6 | Olfactory transduction_Homo sapiens_hsa04740 | 2.45180955 |
| 7 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.39744140 |
| 8 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 2.32721764 |
| 9 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 2.31486895 |
| 10 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.26882055 |
| 11 | Nicotine addiction_Homo sapiens_hsa05033 | 2.20677612 |
| 12 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 2.18990767 |
| 13 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.97480514 |
| 14 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.96034907 |
| 15 | Homologous recombination_Homo sapiens_hsa03440 | 1.89163985 |
| 16 | Taste transduction_Homo sapiens_hsa04742 | 1.83632787 |
| 17 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.76014253 |
| 18 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.75739242 |
| 19 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.71665129 |
| 20 | Basal transcription factors_Homo sapiens_hsa03022 | 1.71044203 |
| 21 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.62449612 |
| 22 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.61334721 |
| 23 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.54987662 |
| 24 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.54264409 |
| 25 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.37463505 |
| 26 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.36300684 |
| 27 | ABC transporters_Homo sapiens_hsa02010 | 1.34181064 |
| 28 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.32263042 |
| 29 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.31153711 |
| 30 | Morphine addiction_Homo sapiens_hsa05032 | 1.30933088 |
| 31 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.24729275 |
| 32 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.23866032 |
| 33 | RNA polymerase_Homo sapiens_hsa03020 | 1.13877315 |
| 34 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.10695101 |
| 35 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.09206257 |
| 36 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.07875043 |
| 37 | RNA transport_Homo sapiens_hsa03013 | 1.03708831 |
| 38 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.01847381 |
| 39 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.01802057 |
| 40 | Insulin secretion_Homo sapiens_hsa04911 | 0.99044805 |
| 41 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.96836365 |
| 42 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.94018967 |
| 43 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.93307860 |
| 44 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.91093626 |
| 45 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.91059466 |
| 46 | GABAergic synapse_Homo sapiens_hsa04727 | 0.90995270 |
| 47 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.89586244 |
| 48 | Huntingtons disease_Homo sapiens_hsa05016 | 0.88653394 |
| 49 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.88452926 |
| 50 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.87411470 |
| 51 | RNA degradation_Homo sapiens_hsa03018 | 0.84111648 |
| 52 | Retinol metabolism_Homo sapiens_hsa00830 | 0.83768811 |
| 53 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.82280986 |
| 54 | Parkinsons disease_Homo sapiens_hsa05012 | 0.82267679 |
| 55 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.80724822 |
| 56 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.79880200 |
| 57 | Peroxisome_Homo sapiens_hsa04146 | 0.76781198 |
| 58 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.75369698 |
| 59 | Circadian entrainment_Homo sapiens_hsa04713 | 0.72483893 |
| 60 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.71586426 |
| 61 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.71170819 |
| 62 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.70512980 |
| 63 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.70162539 |
| 64 | Allograft rejection_Homo sapiens_hsa05330 | 0.69551029 |
| 65 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.68947986 |
| 66 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.68499566 |
| 67 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.67959239 |
| 68 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.67629766 |
| 69 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.67595860 |
| 70 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.66783708 |
| 71 | Sulfur relay system_Homo sapiens_hsa04122 | 0.65436640 |
| 72 | Purine metabolism_Homo sapiens_hsa00230 | 0.64949762 |
| 73 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.64761932 |
| 74 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.59399083 |
| 75 | Salivary secretion_Homo sapiens_hsa04970 | 0.58951606 |
| 76 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.53828813 |
| 77 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.53368098 |
| 78 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.52647352 |
| 79 | Asthma_Homo sapiens_hsa05310 | 0.50308640 |
| 80 | Metabolic pathways_Homo sapiens_hsa01100 | 0.50255079 |
| 81 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.49769363 |
| 82 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.49400411 |
| 83 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.47910944 |
| 84 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.43650760 |
| 85 | Mineral absorption_Homo sapiens_hsa04978 | 0.43416990 |
| 86 | Alzheimers disease_Homo sapiens_hsa05010 | 0.42621403 |
| 87 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.41227500 |
| 88 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.38396427 |
| 89 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.38045645 |
| 90 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.37683326 |
| 91 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.32774113 |
| 92 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.32108448 |
| 93 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.31970014 |
| 94 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.31584336 |
| 95 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.30888595 |
| 96 | Histidine metabolism_Homo sapiens_hsa00340 | 0.30229787 |
| 97 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.30032804 |
| 98 | Protein export_Homo sapiens_hsa03060 | 0.29044686 |
| 99 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.28111544 |
| 100 | Renin secretion_Homo sapiens_hsa04924 | 0.27215203 |

