

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | response to pheromone (GO:0019236) | 5.17869952 |
| 2 | rRNA methylation (GO:0031167) | 4.86568090 |
| 3 | sperm motility (GO:0030317) | 4.76770290 |
| 4 | piRNA metabolic process (GO:0034587) | 4.51197411 |
| 5 | rRNA modification (GO:0000154) | 4.38478798 |
| 6 | acrosome reaction (GO:0007340) | 4.24977001 |
| 7 | axonemal dynein complex assembly (GO:0070286) | 3.81593175 |
| 8 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.78536419 |
| 9 | axoneme assembly (GO:0035082) | 3.76842437 |
| 10 | male meiosis I (GO:0007141) | 3.69676324 |
| 11 | regulation of meiosis I (GO:0060631) | 3.67482531 |
| 12 | microtubule depolymerization (GO:0007019) | 3.62809981 |
| 13 | synapsis (GO:0007129) | 3.58667783 |
| 14 | fusion of sperm to egg plasma membrane (GO:0007342) | 3.56337224 |
| 15 | protein polyglutamylation (GO:0018095) | 3.52167251 |
| 16 | spermatid development (GO:0007286) | 3.51211922 |
| 17 | seminiferous tubule development (GO:0072520) | 3.48411464 |
| 18 | cilium or flagellum-dependent cell motility (GO:0001539) | 3.39847818 |
| 19 | fucose catabolic process (GO:0019317) | 3.38407223 |
| 20 | L-fucose metabolic process (GO:0042354) | 3.38407223 |
| 21 | L-fucose catabolic process (GO:0042355) | 3.38407223 |
| 22 | resolution of meiotic recombination intermediates (GO:0000712) | 3.37585251 |
| 23 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 3.36926012 |
| 24 | establishment of protein localization to Golgi (GO:0072600) | 3.36885850 |
| 25 | epithelial cilium movement (GO:0003351) | 3.36212928 |
| 26 | regulation of glucokinase activity (GO:0033131) | 3.34221514 |
| 27 | regulation of hexokinase activity (GO:1903299) | 3.34221514 |
| 28 | protein targeting to Golgi (GO:0000042) | 3.33609293 |
| 29 | presynaptic membrane assembly (GO:0097105) | 3.31007679 |
| 30 | regulation of cilium movement (GO:0003352) | 3.29363331 |
| 31 | cellular ketone body metabolic process (GO:0046950) | 3.27136327 |
| 32 | DNA methylation involved in gamete generation (GO:0043046) | 3.26218950 |
| 33 | male meiosis (GO:0007140) | 3.20284755 |
| 34 | phosphatidylethanolamine metabolic process (GO:0046337) | 3.18476992 |
| 35 | single strand break repair (GO:0000012) | 3.11558016 |
| 36 | regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371) | 3.05490951 |
| 37 | cilium movement (GO:0003341) | 3.05020456 |
| 38 | neuronal action potential (GO:0019228) | 3.01046935 |
| 39 | platelet dense granule organization (GO:0060155) | 3.00884812 |
| 40 | sperm-egg recognition (GO:0035036) | 3.00147306 |
| 41 | positive regulation of meiosis (GO:0045836) | 2.99849026 |
| 42 | detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) | 2.98199943 |
| 43 | behavioral response to nicotine (GO:0035095) | 2.95174439 |
| 44 | reciprocal DNA recombination (GO:0035825) | 2.94149530 |
| 45 | reciprocal meiotic recombination (GO:0007131) | 2.94149530 |
| 46 | neuron cell-cell adhesion (GO:0007158) | 2.93822716 |
| 47 | multicellular organism reproduction (GO:0032504) | 2.93485126 |
| 48 | spermatid nucleus differentiation (GO:0007289) | 2.92334621 |
| 49 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 2.91358146 |
| 50 | acrosome assembly (GO:0001675) | 2.89972428 |
| 51 | DNA double-strand break processing (GO:0000729) | 2.89385368 |
| 52 | positive regulation of meiotic cell cycle (GO:0051446) | 2.89238722 |
| 53 | postsynaptic membrane organization (GO:0001941) | 2.88716041 |
| 54 | protein localization to Golgi apparatus (GO:0034067) | 2.83925878 |
| 55 | presynaptic membrane organization (GO:0097090) | 2.83661815 |
| 56 | centriole replication (GO:0007099) | 2.79973470 |
| 57 | plasma membrane fusion (GO:0045026) | 2.79656438 |
| 58 | nonmotile primary cilium assembly (GO:0035058) | 2.76461982 |
| 59 | neurotransmitter-gated ion channel clustering (GO:0072578) | 2.75912561 |
| 60 | ketone body metabolic process (GO:1902224) | 2.75561461 |
| 61 | regulation of respiratory gaseous exchange by neurological system process (GO:0002087) | 2.73842408 |
| 62 | mannosylation (GO:0097502) | 2.73796417 |
| 63 | protein K11-linked deubiquitination (GO:0035871) | 2.72514565 |
| 64 | meiosis I (GO:0007127) | 2.71502361 |
| 65 | regulation of timing of cell differentiation (GO:0048505) | 2.71244878 |
| 66 | regulation of respiratory system process (GO:0044065) | 2.69573135 |
| 67 | membrane depolarization during action potential (GO:0086010) | 2.67647321 |
| 68 | somatic diversification of immunoglobulins involved in immune response (GO:0002208) | 2.67126255 |
| 69 | isotype switching (GO:0045190) | 2.67126255 |
| 70 | somatic recombination of immunoglobulin genes involved in immune response (GO:0002204) | 2.67126255 |
| 71 | motile cilium assembly (GO:0044458) | 2.65741203 |
| 72 | cytochrome complex assembly (GO:0017004) | 2.65344662 |
| 73 | glycine transport (GO:0015816) | 2.61424801 |
| 74 | photoreceptor cell maintenance (GO:0045494) | 2.59484707 |
| 75 | reflex (GO:0060004) | 2.58064293 |
| 76 | cilium organization (GO:0044782) | 2.57102689 |
| 77 | hindbrain development (GO:0030902) | 2.56677305 |
| 78 | transmission of nerve impulse (GO:0019226) | 2.56543476 |
| 79 | microtubule polymerization or depolymerization (GO:0031109) | 2.55961419 |
| 80 | cilium assembly (GO:0042384) | 2.53050691 |
| 81 | DNA deamination (GO:0045006) | 2.52661664 |
| 82 | respiratory chain complex IV assembly (GO:0008535) | 2.52146699 |
| 83 | organic cation transport (GO:0015695) | 2.51793169 |
| 84 | negative regulation of reactive oxygen species metabolic process (GO:2000378) | 2.51467190 |
| 85 | cell-cell recognition (GO:0009988) | 2.51348494 |
| 86 | male gamete generation (GO:0048232) | 2.50964639 |
| 87 | spermatogenesis (GO:0007283) | 2.50618361 |
| 88 | regulation of nuclear cell cycle DNA replication (GO:0033262) | 2.50454159 |
| 89 | GTP biosynthetic process (GO:0006183) | 2.49830324 |
| 90 | detection of mechanical stimulus involved in sensory perception (GO:0050974) | 2.49775071 |
| 91 | brain morphogenesis (GO:0048854) | 2.49149212 |
| 92 | negative regulation of DNA-dependent DNA replication (GO:2000104) | 2.45266248 |
| 93 | auditory receptor cell stereocilium organization (GO:0060088) | 2.41685821 |
| 94 | trivalent inorganic anion homeostasis (GO:0072506) | 2.41499562 |
| 95 | phosphate ion homeostasis (GO:0055062) | 2.41499562 |
| 96 | inner ear receptor stereocilium organization (GO:0060122) | 2.39599623 |
| 97 | nephron epithelium morphogenesis (GO:0072088) | 2.39532349 |
| 98 | nephron tubule morphogenesis (GO:0072078) | 2.39532349 |
| 99 | regulation of male gonad development (GO:2000018) | 2.39091596 |
| 100 | proline transport (GO:0015824) | 2.37406206 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ZNF274_21170338_ChIP-Seq_K562_Hela | 3.08612315 |
| 2 | IGF1R_20145208_ChIP-Seq_DFB_Human | 3.01179073 |
| 3 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.84794864 |
| 4 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.82053871 |
| 5 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.68021954 |
| 6 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 2.66353619 |
| 7 | FUS_26573619_Chip-Seq_HEK293_Human | 2.63936040 |
| 8 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 2.47909486 |
| 9 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.47536575 |
| 10 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.41132222 |
| 11 | VDR_22108803_ChIP-Seq_LS180_Human | 2.33422894 |
| 12 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.16076416 |
| 13 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.15709329 |
| 14 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.13447048 |
| 15 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 2.12338325 |
| 16 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.11983795 |
| 17 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.11131327 |
| 18 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.96219243 |
| 19 | EWS_26573619_Chip-Seq_HEK293_Human | 1.89998432 |
| 20 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.86194467 |
| 21 | P300_19829295_ChIP-Seq_ESCs_Human | 1.80862289 |
| 22 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.74039059 |
| 23 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.74039059 |
| 24 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.72266066 |
| 25 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.71954244 |
| 26 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.64820329 |
| 27 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.64371055 |
| 28 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.63027249 |
| 29 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.62819033 |
| 30 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.62819033 |
| 31 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.61461880 |
| 32 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.57288965 |
| 33 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.57091412 |
| 34 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.56989320 |
| 35 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.56892398 |
| 36 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.55817873 |
| 37 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.50582610 |
| 38 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.48673171 |
| 39 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.48552359 |
| 40 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.47891320 |
| 41 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.47658112 |
| 42 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.46209049 |
| 43 | STAT3_23295773_ChIP-Seq_U87_Human | 1.45037941 |
| 44 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.44899662 |
| 45 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.43482333 |
| 46 | TCF4_23295773_ChIP-Seq_U87_Human | 1.43298243 |
| 47 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.42913399 |
| 48 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.42323773 |
| 49 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.41601952 |
| 50 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.39898522 |
| 51 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.39655214 |
| 52 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.37335914 |
| 53 | AR_25329375_ChIP-Seq_VCAP_Human | 1.37158846 |
| 54 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.34688425 |
| 55 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.34564984 |
| 56 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.31302129 |
| 57 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.30653293 |
| 58 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.30613471 |
| 59 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.30088308 |
| 60 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.29934192 |
| 61 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.29303201 |
| 62 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.26873582 |
| 63 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.25364667 |
| 64 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.25364667 |
| 65 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.24371536 |
| 66 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.24073874 |
| 67 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.23177244 |
| 68 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.22276236 |
| 69 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.18465981 |
| 70 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.18207215 |
| 71 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.17459846 |
| 72 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.16928216 |
| 73 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.16928216 |
| 74 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.16448058 |
| 75 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.16343637 |
| 76 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.14999131 |
| 77 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 1.14677755 |
| 78 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.14503573 |
| 79 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.12860141 |
| 80 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.12805021 |
| 81 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.12493046 |
| 82 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.12408752 |
| 83 | CDX2_22108803_ChIP-Seq_LS180_Human | 1.12376616 |
| 84 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.11771903 |
| 85 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.09925425 |
| 86 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.08698134 |
| 87 | NCOR_22424771_ChIP-Seq_293T_Human | 1.08584849 |
| 88 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.05294078 |
| 89 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.04499894 |
| 90 | SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse | 1.03936054 |
| 91 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.03766503 |
| 92 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.02767305 |
| 93 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.01598824 |
| 94 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 1.00881927 |
| 95 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.00654989 |
| 96 | NMYC_18555785_Chip-Seq_ESCs_Mouse | 0.99924391 |
| 97 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 0.99895377 |
| 98 | HOXB7_26014856_ChIP-Seq_BT474_Human | 0.99412043 |
| 99 | RNF2_27304074_Chip-Seq_NSC_Mouse | 0.99409175 |
| 100 | DROSHA_22980978_ChIP-Seq_HELA_Human | 0.98751204 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0000569_abnormal_digit_pigmentation | 4.14376177 |
| 2 | MP0005410_abnormal_fertilization | 3.43796415 |
| 3 | MP0002102_abnormal_ear_morphology | 3.20705009 |
| 4 | MP0001968_abnormal_touch/_nociception | 3.19029024 |
| 5 | MP0006292_abnormal_olfactory_placode | 2.76810165 |
| 6 | MP0002736_abnormal_nociception_after | 2.42826920 |
| 7 | MP0008877_abnormal_DNA_methylation | 2.28442919 |
| 8 | MP0001529_abnormal_vocalization | 2.13700273 |
| 9 | MP0002234_abnormal_pharynx_morphology | 2.10271266 |
| 10 | MP0005075_abnormal_melanosome_morpholog | 1.99614693 |
| 11 | MP0003646_muscle_fatigue | 1.98205906 |
| 12 | MP0008872_abnormal_physiological_respon | 1.97871754 |
| 13 | MP0005423_abnormal_somatic_nervous | 1.91261899 |
| 14 | MP0003880_abnormal_central_pattern | 1.90896776 |
| 15 | MP0005646_abnormal_pituitary_gland | 1.90672873 |
| 16 | MP0001984_abnormal_olfaction | 1.88481183 |
| 17 | MP0003698_abnormal_male_reproductive | 1.87616656 |
| 18 | MP0004885_abnormal_endolymph | 1.85941049 |
| 19 | MP0005551_abnormal_eye_electrophysiolog | 1.83781115 |
| 20 | MP0004270_analgesia | 1.81048747 |
| 21 | MP0008875_abnormal_xenobiotic_pharmacok | 1.74074117 |
| 22 | MP0003195_calcinosis | 1.72413406 |
| 23 | MP0001929_abnormal_gametogenesis | 1.68957526 |
| 24 | MP0001486_abnormal_startle_reflex | 1.67446807 |
| 25 | MP0000566_synostosis | 1.65802331 |
| 26 | MP0002272_abnormal_nervous_system | 1.61087307 |
| 27 | MP0006072_abnormal_retinal_apoptosis | 1.56791891 |
| 28 | MP0002837_dystrophic_cardiac_calcinosis | 1.56402275 |
| 29 | MP0004742_abnormal_vestibular_system | 1.52406812 |
| 30 | MP0009745_abnormal_behavioral_response | 1.51555604 |
| 31 | MP0009046_muscle_twitch | 1.48879293 |
| 32 | MP0002733_abnormal_thermal_nociception | 1.45482577 |
| 33 | MP0009780_abnormal_chondrocyte_physiolo | 1.45197438 |
| 34 | MP0001501_abnormal_sleep_pattern | 1.43477348 |
| 35 | MP0005379_endocrine/exocrine_gland_phen | 1.41514538 |
| 36 | MP0008058_abnormal_DNA_repair | 1.39355774 |
| 37 | MP0005377_hearing/vestibular/ear_phenot | 1.38182381 |
| 38 | MP0003878_abnormal_ear_physiology | 1.38182381 |
| 39 | MP0002734_abnormal_mechanical_nocicepti | 1.37413597 |
| 40 | MP0000631_abnormal_neuroendocrine_gland | 1.36695250 |
| 41 | MP0002138_abnormal_hepatobiliary_system | 1.35015600 |
| 42 | MP0000372_irregular_coat_pigmentation | 1.30922867 |
| 43 | MP0002735_abnormal_chemical_nociception | 1.27920649 |
| 44 | MP0005386_behavior/neurological_phenoty | 1.26197133 |
| 45 | MP0004924_abnormal_behavior | 1.26197133 |
| 46 | MP0004043_abnormal_pH_regulation | 1.25300554 |
| 47 | MP0003635_abnormal_synaptic_transmissio | 1.22708195 |
| 48 | MP0002210_abnormal_sex_determination | 1.22653824 |
| 49 | MP0002572_abnormal_emotion/affect_behav | 1.20453577 |
| 50 | MP0001905_abnormal_dopamine_level | 1.18781976 |
| 51 | MP0008995_early_reproductive_senescence | 1.18191626 |
| 52 | MP0005253_abnormal_eye_physiology | 1.17429835 |
| 53 | MP0000013_abnormal_adipose_tissue | 1.15070000 |
| 54 | MP0001970_abnormal_pain_threshold | 1.12958375 |
| 55 | MP0002184_abnormal_innervation | 1.11495472 |
| 56 | MP0000653_abnormal_sex_gland | 1.11462255 |
| 57 | MP0003567_abnormal_fetal_cardiomyocyte | 1.10431753 |
| 58 | MP0001145_abnormal_male_reproductive | 1.09473581 |
| 59 | MP0002067_abnormal_sensory_capabilities | 1.08537291 |
| 60 | MP0006035_abnormal_mitochondrial_morpho | 1.08193360 |
| 61 | MP0008789_abnormal_olfactory_epithelium | 1.06133749 |
| 62 | MP0002064_seizures | 1.04265443 |
| 63 | MP0005220_abnormal_exocrine_pancreas | 1.03091192 |
| 64 | MP0004147_increased_porphyrin_level | 1.02978068 |
| 65 | MP0002095_abnormal_skin_pigmentation | 1.02700901 |
| 66 | MP0002132_abnormal_respiratory_system | 1.02599475 |
| 67 | MP0004142_abnormal_muscle_tone | 0.99644164 |
| 68 | MP0002938_white_spotting | 0.98396103 |
| 69 | MP0002160_abnormal_reproductive_system | 0.98040559 |
| 70 | MP0001188_hyperpigmentation | 0.98025497 |
| 71 | MP0001986_abnormal_taste_sensitivity | 0.97306244 |
| 72 | MP0000015_abnormal_ear_pigmentation | 0.96630527 |
| 73 | MP0003718_maternal_effect | 0.96401768 |
| 74 | MP0005636_abnormal_mineral_homeostasis | 0.94453730 |
| 75 | MP0005174_abnormal_tail_pigmentation | 0.94366055 |
| 76 | MP0005084_abnormal_gallbladder_morpholo | 0.92209214 |
| 77 | MP0000516_abnormal_urinary_system | 0.91977708 |
| 78 | MP0005367_renal/urinary_system_phenotyp | 0.91977708 |
| 79 | MP0002876_abnormal_thyroid_physiology | 0.91802185 |
| 80 | MP0002557_abnormal_social/conspecific_i | 0.91059896 |
| 81 | MP0004133_heterotaxia | 0.90658735 |
| 82 | MP0001944_abnormal_pancreas_morphology | 0.90628588 |
| 83 | MP0006276_abnormal_autonomic_nervous | 0.90140925 |
| 84 | MP0002161_abnormal_fertility/fecundity | 0.89797158 |
| 85 | MP0005645_abnormal_hypothalamus_physiol | 0.89251145 |
| 86 | MP0002063_abnormal_learning/memory/cond | 0.87685240 |
| 87 | MP0002229_neurodegeneration | 0.86974878 |
| 88 | MP0001963_abnormal_hearing_physiology | 0.85397134 |
| 89 | MP0000026_abnormal_inner_ear | 0.79843266 |
| 90 | MP0002751_abnormal_autonomic_nervous | 0.79688109 |
| 91 | MP0000427_abnormal_hair_cycle | 0.79430598 |
| 92 | MP0005389_reproductive_system_phenotype | 0.76452411 |
| 93 | MP0003786_premature_aging | 0.76027865 |
| 94 | MP0002233_abnormal_nose_morphology | 0.75021206 |
| 95 | MP0002928_abnormal_bile_duct | 0.73461440 |
| 96 | MP0005670_abnormal_white_adipose | 0.71429712 |
| 97 | MP0004145_abnormal_muscle_electrophysio | 0.70434717 |
| 98 | MP0001764_abnormal_homeostasis | 0.68830875 |
| 99 | MP0001765_abnormal_ion_homeostasis | 0.67932158 |
| 100 | MP0003252_abnormal_bile_duct | 0.67895353 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.42237331 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.42237331 |
| 3 | Focal motor seizures (HP:0011153) | 4.28015603 |
| 4 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.90974854 |
| 5 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.79490255 |
| 6 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.79490255 |
| 7 | Abnormal ciliary motility (HP:0012262) | 3.70405688 |
| 8 | Pancreatic fibrosis (HP:0100732) | 3.59172700 |
| 9 | True hermaphroditism (HP:0010459) | 3.55006250 |
| 10 | Decreased central vision (HP:0007663) | 3.40751270 |
| 11 | Nephronophthisis (HP:0000090) | 3.39913344 |
| 12 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.34113439 |
| 13 | Hyperventilation (HP:0002883) | 3.16900371 |
| 14 | Attenuation of retinal blood vessels (HP:0007843) | 3.15975487 |
| 15 | Pancreatic cysts (HP:0001737) | 3.14251748 |
| 16 | Abnormality of the renal medulla (HP:0100957) | 3.10030655 |
| 17 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.94551034 |
| 18 | Abnormality of midbrain morphology (HP:0002418) | 2.89791812 |
| 19 | Molar tooth sign on MRI (HP:0002419) | 2.89791812 |
| 20 | Congenital stationary night blindness (HP:0007642) | 2.88532637 |
| 21 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 2.88294977 |
| 22 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.69093082 |
| 23 | Stomatitis (HP:0010280) | 2.66651445 |
| 24 | Keratoconus (HP:0000563) | 2.63294684 |
| 25 | Increased corneal curvature (HP:0100692) | 2.63294684 |
| 26 | Medial flaring of the eyebrow (HP:0010747) | 2.61289395 |
| 27 | Cone-rod dystrophy (HP:0000548) | 2.60942410 |
| 28 | Hypoplasia of the thymus (HP:0000778) | 2.60419250 |
| 29 | Type II lissencephaly (HP:0007260) | 2.58171831 |
| 30 | Tubulointerstitial nephritis (HP:0001970) | 2.46468439 |
| 31 | Thyroiditis (HP:0100646) | 2.45367847 |
| 32 | Abolished electroretinogram (ERG) (HP:0000550) | 2.44799355 |
| 33 | Pendular nystagmus (HP:0012043) | 2.42409128 |
| 34 | Polydipsia (HP:0001959) | 2.41668499 |
| 35 | Abnormal drinking behavior (HP:0030082) | 2.41668499 |
| 36 | Nephrogenic diabetes insipidus (HP:0009806) | 2.38514311 |
| 37 | Azoospermia (HP:0000027) | 2.32223823 |
| 38 | Chronic hepatic failure (HP:0100626) | 2.29212458 |
| 39 | Hemiparesis (HP:0001269) | 2.28845247 |
| 40 | Febrile seizures (HP:0002373) | 2.27241201 |
| 41 | Gait imbalance (HP:0002141) | 2.26727242 |
| 42 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 2.25959225 |
| 43 | Abnormality of the renal cortex (HP:0011035) | 2.25888694 |
| 44 | Widely spaced teeth (HP:0000687) | 2.22442655 |
| 45 | Male pseudohermaphroditism (HP:0000037) | 2.22159699 |
| 46 | Focal seizures (HP:0007359) | 2.19546743 |
| 47 | Severe combined immunodeficiency (HP:0004430) | 2.16634563 |
| 48 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 2.15388134 |
| 49 | Congenital primary aphakia (HP:0007707) | 2.13757953 |
| 50 | Cystic liver disease (HP:0006706) | 2.09696153 |
| 51 | Gaze-evoked nystagmus (HP:0000640) | 2.09660677 |
| 52 | Volvulus (HP:0002580) | 2.08843683 |
| 53 | Hypothermia (HP:0002045) | 2.07192302 |
| 54 | Methylmalonic acidemia (HP:0002912) | 2.00933835 |
| 55 | Postaxial foot polydactyly (HP:0001830) | 1.99764216 |
| 56 | Genital tract atresia (HP:0001827) | 1.98080600 |
| 57 | Dialeptic seizures (HP:0011146) | 1.96335300 |
| 58 | Broad-based gait (HP:0002136) | 1.96105089 |
| 59 | Polyuria (HP:0000103) | 1.94561089 |
| 60 | Arthropathy (HP:0003040) | 1.93576647 |
| 61 | Tubulointerstitial abnormality (HP:0001969) | 1.93147241 |
| 62 | Lissencephaly (HP:0001339) | 1.92972047 |
| 63 | Intestinal atresia (HP:0011100) | 1.91873636 |
| 64 | Abnormal spermatogenesis (HP:0008669) | 1.89670820 |
| 65 | Rhinitis (HP:0012384) | 1.88408799 |
| 66 | Sclerocornea (HP:0000647) | 1.84726396 |
| 67 | Congenital hepatic fibrosis (HP:0002612) | 1.84363161 |
| 68 | Amelogenesis imperfecta (HP:0000705) | 1.84027142 |
| 69 | Drooling (HP:0002307) | 1.84008090 |
| 70 | Hypoproteinemia (HP:0003075) | 1.83080875 |
| 71 | Abnormal urine output (HP:0012590) | 1.82619689 |
| 72 | Poor eye contact (HP:0000817) | 1.82063526 |
| 73 | Chronic bronchitis (HP:0004469) | 1.82056175 |
| 74 | Bronchiectasis (HP:0002110) | 1.81652767 |
| 75 | Absence seizures (HP:0002121) | 1.75430893 |
| 76 | Abnormality of macular pigmentation (HP:0008002) | 1.74720883 |
| 77 | Colon cancer (HP:0003003) | 1.74669176 |
| 78 | Abnormality of the labia minora (HP:0012880) | 1.73357261 |
| 79 | Abnormality of B cell number (HP:0010975) | 1.72589064 |
| 80 | Type 2 muscle fiber atrophy (HP:0003554) | 1.70858327 |
| 81 | Panhypogammaglobulinemia (HP:0003139) | 1.70776856 |
| 82 | Median cleft lip (HP:0000161) | 1.70652379 |
| 83 | Specific learning disability (HP:0001328) | 1.69717516 |
| 84 | Retinitis pigmentosa (HP:0000510) | 1.69646284 |
| 85 | Ketoacidosis (HP:0001993) | 1.68954180 |
| 86 | Hypokalemic alkalosis (HP:0001949) | 1.68836907 |
| 87 | Chorioretinal atrophy (HP:0000533) | 1.67878010 |
| 88 | Cerebellar dysplasia (HP:0007033) | 1.67447878 |
| 89 | Infertility (HP:0000789) | 1.67283973 |
| 90 | Severe visual impairment (HP:0001141) | 1.67177365 |
| 91 | B lymphocytopenia (HP:0010976) | 1.66981417 |
| 92 | Vaginal atresia (HP:0000148) | 1.66360353 |
| 93 | Abnormality of endocrine pancreas physiology (HP:0012093) | 1.65206876 |
| 94 | Abnormality of the pancreatic islet cells (HP:0006476) | 1.65206876 |
| 95 | Postaxial hand polydactyly (HP:0001162) | 1.64161264 |
| 96 | Excessive salivation (HP:0003781) | 1.62539314 |
| 97 | Tubular atrophy (HP:0000092) | 1.62507566 |
| 98 | Abnormality of renal excretion (HP:0011036) | 1.60882332 |
| 99 | Fair hair (HP:0002286) | 1.60845305 |
| 100 | Polyphagia (HP:0002591) | 1.60703139 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MAP4K2 | 4.90836837 |
| 2 | PNCK | 3.58336054 |
| 3 | TNIK | 3.47598974 |
| 4 | FRK | 3.46600000 |
| 5 | WNK4 | 3.33981446 |
| 6 | TAF1 | 2.59581634 |
| 7 | NUAK1 | 2.42619096 |
| 8 | STK39 | 2.30555151 |
| 9 | NTRK3 | 2.27487265 |
| 10 | OXSR1 | 2.06396270 |
| 11 | MAPK13 | 1.90529069 |
| 12 | TAOK1 | 1.80683671 |
| 13 | CASK | 1.79112293 |
| 14 | PLK4 | 1.79064621 |
| 15 | BMPR1B | 1.77221031 |
| 16 | PINK1 | 1.67733553 |
| 17 | PLK2 | 1.65330455 |
| 18 | ZAK | 1.62841975 |
| 19 | TAOK3 | 1.61780606 |
| 20 | ADRBK2 | 1.58661036 |
| 21 | NTRK2 | 1.52494380 |
| 22 | STK38L | 1.48832538 |
| 23 | PHKG1 | 1.42319874 |
| 24 | PHKG2 | 1.42319874 |
| 25 | MST4 | 1.42017010 |
| 26 | MAP2K6 | 1.40486408 |
| 27 | MARK1 | 1.39302803 |
| 28 | BRD4 | 1.36772336 |
| 29 | TNK2 | 1.36358499 |
| 30 | GRK1 | 1.36188504 |
| 31 | VRK2 | 1.31031608 |
| 32 | WNK3 | 1.30734516 |
| 33 | NLK | 1.24557512 |
| 34 | ERBB3 | 1.18945793 |
| 35 | DAPK2 | 1.16500802 |
| 36 | INSRR | 1.09874668 |
| 37 | MAPKAPK3 | 1.01615394 |
| 38 | TLK1 | 0.95296204 |
| 39 | MAPK15 | 0.93703462 |
| 40 | WNK1 | 0.93693870 |
| 41 | FGFR2 | 0.93613637 |
| 42 | EIF2AK3 | 0.92743696 |
| 43 | DYRK2 | 0.90460699 |
| 44 | CDK3 | 0.85690370 |
| 45 | CLK1 | 0.81306988 |
| 46 | MAP3K4 | 0.79677711 |
| 47 | NME1 | 0.78083215 |
| 48 | MUSK | 0.77106381 |
| 49 | VRK1 | 0.73904345 |
| 50 | MATK | 0.70999630 |
| 51 | MKNK2 | 0.70927072 |
| 52 | CDK19 | 0.69981016 |
| 53 | FES | 0.69092888 |
| 54 | CAMK1G | 0.67822547 |
| 55 | NTRK1 | 0.65203601 |
| 56 | PRKCQ | 0.62232107 |
| 57 | SIK2 | 0.62187076 |
| 58 | TRPM7 | 0.62030666 |
| 59 | OBSCN | 0.58469467 |
| 60 | MAP2K7 | 0.57772004 |
| 61 | CSNK1G1 | 0.57090803 |
| 62 | PRKCG | 0.56899443 |
| 63 | STK11 | 0.55331480 |
| 64 | PLK3 | 0.54746045 |
| 65 | PAK3 | 0.53001514 |
| 66 | MAPKAPK5 | 0.52080857 |
| 67 | PRKCE | 0.50695172 |
| 68 | RPS6KB1 | 0.46783087 |
| 69 | MKNK1 | 0.46469060 |
| 70 | PRKG1 | 0.45810293 |
| 71 | CSNK1G2 | 0.45100379 |
| 72 | TEC | 0.44407449 |
| 73 | CAMK1 | 0.43292157 |
| 74 | SGK1 | 0.42902011 |
| 75 | ADRBK1 | 0.42243370 |
| 76 | ATM | 0.42093912 |
| 77 | KIT | 0.41806692 |
| 78 | CSNK1G3 | 0.40424493 |
| 79 | TYRO3 | 0.38512149 |
| 80 | STK3 | 0.37708799 |
| 81 | CSNK1D | 0.36959164 |
| 82 | EPHA4 | 0.36489021 |
| 83 | MAP3K2 | 0.35847102 |
| 84 | SGK2 | 0.35805647 |
| 85 | WEE1 | 0.35771627 |
| 86 | CSNK1E | 0.35757022 |
| 87 | TGFBR2 | 0.35570798 |
| 88 | PLK1 | 0.33960315 |
| 89 | FGFR3 | 0.33516732 |
| 90 | PKN1 | 0.32792686 |
| 91 | IKBKB | 0.31825136 |
| 92 | RPS6KA4 | 0.31591197 |
| 93 | DYRK1A | 0.31563183 |
| 94 | UHMK1 | 0.30632252 |
| 95 | CSNK1A1 | 0.30127279 |
| 96 | PIK3CG | 0.30122828 |
| 97 | GRK5 | 0.29801974 |
| 98 | MINK1 | 0.29532727 |
| 99 | LATS1 | 0.29011041 |
| 100 | PRKACA | 0.28992145 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.36628441 |
| 2 | Phototransduction_Homo sapiens_hsa04744 | 3.10944711 |
| 3 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.64271007 |
| 4 | Olfactory transduction_Homo sapiens_hsa04740 | 2.51225772 |
| 5 | Asthma_Homo sapiens_hsa05310 | 2.25368479 |
| 6 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 2.20948931 |
| 7 | Basal transcription factors_Homo sapiens_hsa03022 | 2.06958251 |
| 8 | Nicotine addiction_Homo sapiens_hsa05033 | 1.96536215 |
| 9 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.94147792 |
| 10 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.93483338 |
| 11 | Homologous recombination_Homo sapiens_hsa03440 | 1.87416842 |
| 12 | Allograft rejection_Homo sapiens_hsa05330 | 1.86167831 |
| 13 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.79679302 |
| 14 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.76333729 |
| 15 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.75790552 |
| 16 | RNA polymerase_Homo sapiens_hsa03020 | 1.74840665 |
| 17 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.72373761 |
| 18 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.70286597 |
| 19 | Taste transduction_Homo sapiens_hsa04742 | 1.66796794 |
| 20 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.64115007 |
| 21 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.55225395 |
| 22 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 1.54415420 |
| 23 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.54112501 |
| 24 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.51662469 |
| 25 | Primary immunodeficiency_Homo sapiens_hsa05340 | 1.50411172 |
| 26 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.45785734 |
| 27 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.42163915 |
| 28 | Salivary secretion_Homo sapiens_hsa04970 | 1.33148264 |
| 29 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.31853301 |
| 30 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.31203048 |
| 31 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 1.29465864 |
| 32 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.28429829 |
| 33 | RNA degradation_Homo sapiens_hsa03018 | 1.24234445 |
| 34 | RNA transport_Homo sapiens_hsa03013 | 1.22143508 |
| 35 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.16884654 |
| 36 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.14621998 |
| 37 | Purine metabolism_Homo sapiens_hsa00230 | 1.14046987 |
| 38 | Renin secretion_Homo sapiens_hsa04924 | 1.13857618 |
| 39 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.13479964 |
| 40 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.10370229 |
| 41 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.10163444 |
| 42 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.09842814 |
| 43 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.09610355 |
| 44 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.06756236 |
| 45 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.06584867 |
| 46 | Circadian entrainment_Homo sapiens_hsa04713 | 1.06438011 |
| 47 | Mismatch repair_Homo sapiens_hsa03430 | 1.05023244 |
| 48 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.03063296 |
| 49 | Protein export_Homo sapiens_hsa03060 | 1.00072230 |
| 50 | Insulin secretion_Homo sapiens_hsa04911 | 0.97068103 |
| 51 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.94313147 |
| 52 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.92364038 |
| 53 | Morphine addiction_Homo sapiens_hsa05032 | 0.87083334 |
| 54 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.86845393 |
| 55 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.84609320 |
| 56 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.84406889 |
| 57 | Retinol metabolism_Homo sapiens_hsa00830 | 0.83431528 |
| 58 | Peroxisome_Homo sapiens_hsa04146 | 0.80413648 |
| 59 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.79714555 |
| 60 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.79020403 |
| 61 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.78829279 |
| 62 | Proteasome_Homo sapiens_hsa03050 | 0.76695992 |
| 63 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.74466000 |
| 64 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.72891809 |
| 65 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.72743772 |
| 66 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.69447482 |
| 67 | Long-term depression_Homo sapiens_hsa04730 | 0.68735662 |
| 68 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.66612184 |
| 69 | GABAergic synapse_Homo sapiens_hsa04727 | 0.65864639 |
| 70 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.65599839 |
| 71 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.64181708 |
| 72 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.63204307 |
| 73 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.62575670 |
| 74 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.62092618 |
| 75 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.61449843 |
| 76 | Huntingtons disease_Homo sapiens_hsa05016 | 0.60039663 |
| 77 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.58410312 |
| 78 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.54981856 |
| 79 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.54475204 |
| 80 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.53961547 |
| 81 | ABC transporters_Homo sapiens_hsa02010 | 0.53221107 |
| 82 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.52146611 |
| 83 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.51325094 |
| 84 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.48634686 |
| 85 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.47311948 |
| 86 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.46775736 |
| 87 | Long-term potentiation_Homo sapiens_hsa04720 | 0.45202550 |
| 88 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.45127598 |
| 89 | Spliceosome_Homo sapiens_hsa03040 | 0.44473717 |
| 90 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.44051933 |
| 91 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.43913181 |
| 92 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.42360856 |
| 93 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.42137013 |
| 94 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.42053833 |
| 95 | Metabolic pathways_Homo sapiens_hsa01100 | 0.41386348 |
| 96 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.40921377 |
| 97 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.40784635 |
| 98 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.39819739 |
| 99 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.39361989 |
| 100 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.38630623 |

