

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | response to pheromone (GO:0019236) | 7.56554842 |
| 2 | acrosome reaction (GO:0007340) | 6.45095240 |
| 3 | sperm motility (GO:0030317) | 6.05072173 |
| 4 | fusion of sperm to egg plasma membrane (GO:0007342) | 4.81880589 |
| 5 | establishment of protein localization to Golgi (GO:0072600) | 4.60189922 |
| 6 | single strand break repair (GO:0000012) | 4.59645316 |
| 7 | regulation of cilium movement (GO:0003352) | 4.54924679 |
| 8 | protein targeting to Golgi (GO:0000042) | 4.47473069 |
| 9 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 4.41351114 |
| 10 | spermatid development (GO:0007286) | 4.39377018 |
| 11 | protein polyglutamylation (GO:0018095) | 4.34794560 |
| 12 | sperm capacitation (GO:0048240) | 4.27825555 |
| 13 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 4.25446614 |
| 14 | behavioral response to nicotine (GO:0035095) | 4.22789030 |
| 15 | nonmotile primary cilium assembly (GO:0035058) | 4.20985973 |
| 16 | microtubule depolymerization (GO:0007019) | 4.07457404 |
| 17 | epithelial cilium movement (GO:0003351) | 4.06121419 |
| 18 | centriole replication (GO:0007099) | 4.03488279 |
| 19 | calcium ion-dependent exocytosis (GO:0017156) | 4.03008632 |
| 20 | axonemal dynein complex assembly (GO:0070286) | 3.97275746 |
| 21 | plasma membrane fusion (GO:0045026) | 3.77725273 |
| 22 | multicellular organism reproduction (GO:0032504) | 3.73598511 |
| 23 | protein localization to Golgi apparatus (GO:0034067) | 3.69057422 |
| 24 | microtubule polymerization or depolymerization (GO:0031109) | 3.68399495 |
| 25 | microtubule severing (GO:0051013) | 3.66275372 |
| 26 | regulation of inhibitory postsynaptic membrane potential (GO:0060080) | 3.56010359 |
| 27 | cellular ketone body metabolic process (GO:0046950) | 3.55018116 |
| 28 | positive regulation of gastrulation (GO:2000543) | 3.47402548 |
| 29 | cilium or flagellum-dependent cell motility (GO:0001539) | 3.43096362 |
| 30 | regulation of microtubule-based movement (GO:0060632) | 3.41594373 |
| 31 | cilium movement (GO:0003341) | 3.38472068 |
| 32 | motile cilium assembly (GO:0044458) | 3.37738706 |
| 33 | pyrimidine nucleobase catabolic process (GO:0006208) | 3.37442342 |
| 34 | sperm-egg recognition (GO:0035036) | 3.35027133 |
| 35 | spermatid nucleus differentiation (GO:0007289) | 3.33063788 |
| 36 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.27765484 |
| 37 | metanephric nephron tubule development (GO:0072234) | 3.25278841 |
| 38 | metanephric tubule development (GO:0072170) | 3.25278841 |
| 39 | regulation of Rab GTPase activity (GO:0032313) | 3.10635750 |
| 40 | positive regulation of Rab GTPase activity (GO:0032851) | 3.10635750 |
| 41 | spermatogenesis (GO:0007283) | 3.08458558 |
| 42 | male gamete generation (GO:0048232) | 3.07639180 |
| 43 | ketone body metabolic process (GO:1902224) | 3.06155788 |
| 44 | reproduction (GO:0000003) | 3.04996403 |
| 45 | DNA packaging (GO:0006323) | 3.04126920 |
| 46 | centriole assembly (GO:0098534) | 2.99755870 |
| 47 | G-protein coupled glutamate receptor signaling pathway (GO:0007216) | 2.98516151 |
| 48 | chromosome condensation (GO:0030261) | 2.93680980 |
| 49 | somite development (GO:0061053) | 2.90542963 |
| 50 | negative regulation of inclusion body assembly (GO:0090084) | 2.87703557 |
| 51 | metanephric nephron epithelium development (GO:0072243) | 2.85688952 |
| 52 | neuron recognition (GO:0008038) | 2.85206598 |
| 53 | gamete generation (GO:0007276) | 2.84725445 |
| 54 | nephron tubule morphogenesis (GO:0072078) | 2.84508780 |
| 55 | nephron epithelium morphogenesis (GO:0072088) | 2.84508780 |
| 56 | kidney morphogenesis (GO:0060993) | 2.83052341 |
| 57 | spinal cord motor neuron differentiation (GO:0021522) | 2.82233908 |
| 58 | cilium assembly (GO:0042384) | 2.82020730 |
| 59 | presynaptic membrane assembly (GO:0097105) | 2.80532665 |
| 60 | neurotransmitter-gated ion channel clustering (GO:0072578) | 2.80468871 |
| 61 | limb development (GO:0060173) | 2.80003755 |
| 62 | appendage development (GO:0048736) | 2.80003755 |
| 63 | cilium organization (GO:0044782) | 2.79110646 |
| 64 | metanephric epithelium development (GO:0072207) | 2.78187944 |
| 65 | behavioral response to ethanol (GO:0048149) | 2.77883981 |
| 66 | nucleobase catabolic process (GO:0046113) | 2.75212689 |
| 67 | RNA destabilization (GO:0050779) | 2.74156776 |
| 68 | seminiferous tubule development (GO:0072520) | 2.73559713 |
| 69 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 2.71943714 |
| 70 | somite rostral/caudal axis specification (GO:0032525) | 2.71065826 |
| 71 | metanephric mesenchyme development (GO:0072075) | 2.70857316 |
| 72 | phosphatidylethanolamine metabolic process (GO:0046337) | 2.66802167 |
| 73 | positive regulation of action potential (GO:0045760) | 2.66791836 |
| 74 | urinary tract smooth muscle contraction (GO:0014848) | 2.66672504 |
| 75 | negative regulation of Rho protein signal transduction (GO:0035024) | 2.66388018 |
| 76 | neuronal action potential (GO:0019228) | 2.66169150 |
| 77 | presynaptic membrane organization (GO:0097090) | 2.66050281 |
| 78 | membrane depolarization during action potential (GO:0086010) | 2.65419735 |
| 79 | cell-cell recognition (GO:0009988) | 2.64733053 |
| 80 | cranial nerve morphogenesis (GO:0021602) | 2.59316976 |
| 81 | Golgi to endosome transport (GO:0006895) | 2.59288775 |
| 82 | cerebral cortex radially oriented cell migration (GO:0021799) | 2.57425926 |
| 83 | cell differentiation involved in metanephros development (GO:0072202) | 2.56805373 |
| 84 | binding of sperm to zona pellucida (GO:0007339) | 2.54942365 |
| 85 | photoreceptor cell maintenance (GO:0045494) | 2.53166283 |
| 86 | postsynaptic membrane organization (GO:0001941) | 2.51301157 |
| 87 | axonal fasciculation (GO:0007413) | 2.49960277 |
| 88 | dendritic spine morphogenesis (GO:0060997) | 2.48696592 |
| 89 | single fertilization (GO:0007338) | 2.46842635 |
| 90 | short-term memory (GO:0007614) | 2.44597915 |
| 91 | cell differentiation in spinal cord (GO:0021515) | 2.40579711 |
| 92 | alanine transport (GO:0032328) | 2.39957357 |
| 93 | germ cell development (GO:0007281) | 2.39646027 |
| 94 | regulation of action potential (GO:0098900) | 2.39638501 |
| 95 | dopaminergic neuron differentiation (GO:0071542) | 2.38244512 |
| 96 | axoneme assembly (GO:0035082) | 2.38167113 |
| 97 | ventricular system development (GO:0021591) | 2.37139536 |
| 98 | retinal ganglion cell axon guidance (GO:0031290) | 2.34109094 |
| 99 | central nervous system projection neuron axonogenesis (GO:0021952) | 2.32466267 |
| 100 | primary amino compound metabolic process (GO:1901160) | 2.31378035 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.67597904 |
| 2 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.87989079 |
| 3 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.79607760 |
| 4 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.69137994 |
| 5 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.57359496 |
| 6 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.45255515 |
| 7 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 2.41454597 |
| 8 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.35343535 |
| 9 | FUS_26573619_Chip-Seq_HEK293_Human | 2.25646612 |
| 10 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.20460475 |
| 11 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.20460475 |
| 12 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 2.19053029 |
| 13 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.15848936 |
| 14 | VDR_22108803_ChIP-Seq_LS180_Human | 2.13495213 |
| 15 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.09920833 |
| 16 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 2.09869091 |
| 17 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.98013274 |
| 18 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.88882047 |
| 19 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 1.83232609 |
| 20 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.83013223 |
| 21 | P300_19829295_ChIP-Seq_ESCs_Human | 1.77741339 |
| 22 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.76102807 |
| 23 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.72799503 |
| 24 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.70479624 |
| 25 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.69892530 |
| 26 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.69538569 |
| 27 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.69034763 |
| 28 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.69013029 |
| 29 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.68002248 |
| 30 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.68002248 |
| 31 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.65763356 |
| 32 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.64232054 |
| 33 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.62567674 |
| 34 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.60148998 |
| 35 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.57493879 |
| 36 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.57217373 |
| 37 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 1.56584466 |
| 38 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.56066174 |
| 39 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.54501011 |
| 40 | AR_25329375_ChIP-Seq_VCAP_Human | 1.53798101 |
| 41 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.53662548 |
| 42 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.51811564 |
| 43 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.51808060 |
| 44 | EWS_26573619_Chip-Seq_HEK293_Human | 1.49638500 |
| 45 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.49511980 |
| 46 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 1.49098255 |
| 47 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.47654875 |
| 48 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.47654875 |
| 49 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.47421967 |
| 50 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.46418020 |
| 51 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.42129236 |
| 52 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.42010747 |
| 53 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.41286701 |
| 54 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.40236339 |
| 55 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 1.39886975 |
| 56 | STAT3_23295773_ChIP-Seq_U87_Human | 1.39272096 |
| 57 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 1.33429764 |
| 58 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.33372082 |
| 59 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.32716147 |
| 60 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.32493878 |
| 61 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.31336210 |
| 62 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.29684675 |
| 63 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.29635316 |
| 64 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.29050948 |
| 65 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.23874674 |
| 66 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.23666162 |
| 67 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.21534052 |
| 68 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.21140672 |
| 69 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.21108749 |
| 70 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.20820689 |
| 71 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.19220904 |
| 72 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.19188988 |
| 73 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 1.17717508 |
| 74 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.17425934 |
| 75 | TBL1_22424771_ChIP-Seq_293T_Human | 1.17222966 |
| 76 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.17162148 |
| 77 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.16395660 |
| 78 | TCF4_23295773_ChIP-Seq_U87_Human | 1.16163706 |
| 79 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.15496229 |
| 80 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.14029995 |
| 81 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 1.12558482 |
| 82 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.10185255 |
| 83 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 1.07924936 |
| 84 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.05972444 |
| 85 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.05098785 |
| 86 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.03640817 |
| 87 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.03640817 |
| 88 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.03594109 |
| 89 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.02185540 |
| 90 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.01775392 |
| 91 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.00949414 |
| 92 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.00440697 |
| 93 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.00437602 |
| 94 | KDM2B_26808549_Chip-Seq_REH_Human | 1.00430351 |
| 95 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 0.99853467 |
| 96 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 0.99839290 |
| 97 | NFYB_21822215_ChIP-Seq_K562_Human | 0.99260060 |
| 98 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.99140248 |
| 99 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 0.98478378 |
| 100 | RING1B_27294783_Chip-Seq_ESCs_Mouse | 0.98351122 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 4.50780970 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 2.33239415 |
| 3 | MP0003878_abnormal_ear_physiology | 2.33239415 |
| 4 | MP0006292_abnormal_olfactory_placode | 2.32260243 |
| 5 | MP0009379_abnormal_foot_pigmentation | 2.24395454 |
| 6 | MP0003698_abnormal_male_reproductive | 2.17306030 |
| 7 | MP0000569_abnormal_digit_pigmentation | 2.12046447 |
| 8 | MP0005670_abnormal_white_adipose | 2.10059259 |
| 9 | MP0005423_abnormal_somatic_nervous | 2.07198523 |
| 10 | MP0000778_abnormal_nervous_system | 1.95794444 |
| 11 | MP0003122_maternal_imprinting | 1.91061154 |
| 12 | MP0005248_abnormal_Harderian_gland | 1.83285233 |
| 13 | MP0001929_abnormal_gametogenesis | 1.77504665 |
| 14 | MP0003011_delayed_dark_adaptation | 1.73726450 |
| 15 | MP0006276_abnormal_autonomic_nervous | 1.70397802 |
| 16 | MP0001485_abnormal_pinna_reflex | 1.68444362 |
| 17 | MP0001486_abnormal_startle_reflex | 1.67220877 |
| 18 | MP0005551_abnormal_eye_electrophysiolog | 1.66157947 |
| 19 | MP0004133_heterotaxia | 1.65998232 |
| 20 | MP0004885_abnormal_endolymph | 1.65574241 |
| 21 | MP0003880_abnormal_central_pattern | 1.64887525 |
| 22 | MP0009745_abnormal_behavioral_response | 1.61749336 |
| 23 | MP0004859_abnormal_synaptic_plasticity | 1.59484080 |
| 24 | MP0005646_abnormal_pituitary_gland | 1.59107660 |
| 25 | MP0002572_abnormal_emotion/affect_behav | 1.58917271 |
| 26 | MP0004142_abnormal_muscle_tone | 1.58112994 |
| 27 | MP0004742_abnormal_vestibular_system | 1.56218667 |
| 28 | MP0001348_abnormal_lacrimal_gland | 1.54429273 |
| 29 | MP0002557_abnormal_social/conspecific_i | 1.51149568 |
| 30 | MP0001968_abnormal_touch/_nociception | 1.50599489 |
| 31 | MP0002272_abnormal_nervous_system | 1.48151225 |
| 32 | MP0009046_muscle_twitch | 1.44210572 |
| 33 | MP0003195_calcinosis | 1.43714946 |
| 34 | MP0002653_abnormal_ependyma_morphology | 1.43440545 |
| 35 | MP0001905_abnormal_dopamine_level | 1.42689613 |
| 36 | MP0003787_abnormal_imprinting | 1.41660378 |
| 37 | MP0000631_abnormal_neuroendocrine_gland | 1.41358849 |
| 38 | MP0001529_abnormal_vocalization | 1.40836367 |
| 39 | MP0001984_abnormal_olfaction | 1.40452547 |
| 40 | MP0001440_abnormal_grooming_behavior | 1.38164516 |
| 41 | MP0008877_abnormal_DNA_methylation | 1.37968836 |
| 42 | MP0002938_white_spotting | 1.37498059 |
| 43 | MP0005379_endocrine/exocrine_gland_phen | 1.37448313 |
| 44 | MP0002735_abnormal_chemical_nociception | 1.37060644 |
| 45 | MP0002067_abnormal_sensory_capabilities | 1.36911078 |
| 46 | MP0003635_abnormal_synaptic_transmissio | 1.36437778 |
| 47 | MP0002928_abnormal_bile_duct | 1.34786401 |
| 48 | MP0000026_abnormal_inner_ear | 1.34739454 |
| 49 | MP0000955_abnormal_spinal_cord | 1.34374568 |
| 50 | MP0003283_abnormal_digestive_organ | 1.33564763 |
| 51 | MP0002063_abnormal_learning/memory/cond | 1.29554431 |
| 52 | MP0003121_genomic_imprinting | 1.28627390 |
| 53 | MP0002734_abnormal_mechanical_nocicepti | 1.28582100 |
| 54 | MP0002822_catalepsy | 1.27154426 |
| 55 | MP0002638_abnormal_pupillary_reflex | 1.25218670 |
| 56 | MP0002210_abnormal_sex_determination | 1.25103137 |
| 57 | MP0002234_abnormal_pharynx_morphology | 1.24700927 |
| 58 | MP0001970_abnormal_pain_threshold | 1.24619423 |
| 59 | MP0002733_abnormal_thermal_nociception | 1.24021828 |
| 60 | MP0010386_abnormal_urinary_bladder | 1.23906877 |
| 61 | MP0000566_synostosis | 1.22221678 |
| 62 | MP0002138_abnormal_hepatobiliary_system | 1.21394518 |
| 63 | MP0003119_abnormal_digestive_system | 1.20443927 |
| 64 | MP0000049_abnormal_middle_ear | 1.18531243 |
| 65 | MP0003136_yellow_coat_color | 1.16409094 |
| 66 | MP0002184_abnormal_innervation | 1.14654931 |
| 67 | MP0005187_abnormal_penis_morphology | 1.13428577 |
| 68 | MP0008995_early_reproductive_senescence | 1.13284629 |
| 69 | MP0005253_abnormal_eye_physiology | 1.12300416 |
| 70 | MP0002161_abnormal_fertility/fecundity | 1.12193337 |
| 71 | MP0002064_seizures | 1.09880917 |
| 72 | MP0002882_abnormal_neuron_morphology | 1.08338704 |
| 73 | MP0002752_abnormal_somatic_nervous | 1.07026690 |
| 74 | MP0001963_abnormal_hearing_physiology | 1.02379111 |
| 75 | MP0001299_abnormal_eye_distance/ | 1.02110914 |
| 76 | MP0002102_abnormal_ear_morphology | 1.01755861 |
| 77 | MP0006072_abnormal_retinal_apoptosis | 1.01028334 |
| 78 | MP0001879_abnormal_lymphatic_vessel | 0.97989979 |
| 79 | MP0000653_abnormal_sex_gland | 0.97396314 |
| 80 | MP0005195_abnormal_posterior_eye | 0.96622669 |
| 81 | MP0001145_abnormal_male_reproductive | 0.96125152 |
| 82 | MP0008961_abnormal_basal_metabolism | 0.95477754 |
| 83 | MP0005084_abnormal_gallbladder_morpholo | 0.94200146 |
| 84 | MP0002736_abnormal_nociception_after | 0.92332046 |
| 85 | MP0002837_dystrophic_cardiac_calcinosis | 0.89064533 |
| 86 | MP0004085_abnormal_heartbeat | 0.88547861 |
| 87 | MP0003879_abnormal_hair_cell | 0.85600243 |
| 88 | MP0002282_abnormal_trachea_morphology | 0.85360621 |
| 89 | MP0002249_abnormal_larynx_morphology | 0.85279526 |
| 90 | MP0001188_hyperpigmentation | 0.83685715 |
| 91 | MP0002163_abnormal_gland_morphology | 0.83340290 |
| 92 | MP0002152_abnormal_brain_morphology | 0.82266016 |
| 93 | MP0004145_abnormal_muscle_electrophysio | 0.81911628 |
| 94 | MP0004270_analgesia | 0.81671472 |
| 95 | MP0001501_abnormal_sleep_pattern | 0.80305778 |
| 96 | MP0002229_neurodegeneration | 0.79931386 |
| 97 | MP0001286_abnormal_eye_development | 0.79503998 |
| 98 | MP0008569_lethality_at_weaning | 0.79461068 |
| 99 | MP0005645_abnormal_hypothalamus_physiol | 0.79083081 |
| 100 | MP0001944_abnormal_pancreas_morphology | 0.77038900 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 4.69424022 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 4.13199855 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 4.13199855 |
| 4 | Pancreatic fibrosis (HP:0100732) | 4.01553651 |
| 5 | Pancreatic cysts (HP:0001737) | 3.82907638 |
| 6 | Nephronophthisis (HP:0000090) | 3.64124119 |
| 7 | True hermaphroditism (HP:0010459) | 3.55762615 |
| 8 | Gait imbalance (HP:0002141) | 3.51563945 |
| 9 | Medial flaring of the eyebrow (HP:0010747) | 3.44220791 |
| 10 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.43489784 |
| 11 | Abnormality of the renal medulla (HP:0100957) | 3.31296838 |
| 12 | Congenital primary aphakia (HP:0007707) | 3.19947328 |
| 13 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.19633817 |
| 14 | Progressive cerebellar ataxia (HP:0002073) | 3.18960200 |
| 15 | Molar tooth sign on MRI (HP:0002419) | 3.05564299 |
| 16 | Abnormality of midbrain morphology (HP:0002418) | 3.05564299 |
| 17 | Abnormal ciliary motility (HP:0012262) | 3.02230291 |
| 18 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.01949122 |
| 19 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.01949122 |
| 20 | Chronic hepatic failure (HP:0100626) | 2.97723132 |
| 21 | Attenuation of retinal blood vessels (HP:0007843) | 2.95309606 |
| 22 | Cystic liver disease (HP:0006706) | 2.91975794 |
| 23 | Poor coordination (HP:0002370) | 2.90525861 |
| 24 | Nephrogenic diabetes insipidus (HP:0009806) | 2.82431156 |
| 25 | Tubulointerstitial nephritis (HP:0001970) | 2.74842584 |
| 26 | Decreased central vision (HP:0007663) | 2.71108027 |
| 27 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.70955196 |
| 28 | Genital tract atresia (HP:0001827) | 2.67866984 |
| 29 | Vaginal atresia (HP:0000148) | 2.67427349 |
| 30 | Double outlet right ventricle (HP:0001719) | 2.66956513 |
| 31 | Congenital malformation of the right heart (HP:0011723) | 2.66956513 |
| 32 | Facial shape deformation (HP:0011334) | 2.65537790 |
| 33 | Potter facies (HP:0002009) | 2.65537790 |
| 34 | Hypoplastic ischia (HP:0003175) | 2.63247176 |
| 35 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.50865205 |
| 36 | Optic nerve hypoplasia (HP:0000609) | 2.48322921 |
| 37 | Pendular nystagmus (HP:0012043) | 2.47081917 |
| 38 | Congenital sensorineural hearing impairment (HP:0008527) | 2.45343135 |
| 39 | Febrile seizures (HP:0002373) | 2.44930694 |
| 40 | Abnormality of the renal cortex (HP:0011035) | 2.44401320 |
| 41 | Limb dystonia (HP:0002451) | 2.41541076 |
| 42 | Sclerocornea (HP:0000647) | 2.39596543 |
| 43 | Myokymia (HP:0002411) | 2.39265295 |
| 44 | Tubulointerstitial abnormality (HP:0001969) | 2.38373179 |
| 45 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.29814033 |
| 46 | Abnormality of macular pigmentation (HP:0008002) | 2.29175209 |
| 47 | Type II lissencephaly (HP:0007260) | 2.28842935 |
| 48 | Anencephaly (HP:0002323) | 2.28767645 |
| 49 | Polydipsia (HP:0001959) | 2.27827730 |
| 50 | Abnormal drinking behavior (HP:0030082) | 2.27827730 |
| 51 | Abnormality of the ischium (HP:0003174) | 2.23788728 |
| 52 | Congenital hepatic fibrosis (HP:0002612) | 2.18072953 |
| 53 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 2.16133949 |
| 54 | Polyphagia (HP:0002591) | 2.14690512 |
| 55 | Drooling (HP:0002307) | 2.12962074 |
| 56 | Azoospermia (HP:0000027) | 2.10199722 |
| 57 | Aplasia/Hypoplasia of the lens (HP:0008063) | 2.09391088 |
| 58 | Specific learning disability (HP:0001328) | 2.08488627 |
| 59 | Tubular atrophy (HP:0000092) | 2.06677017 |
| 60 | Infertility (HP:0000789) | 1.99503789 |
| 61 | Polyuria (HP:0000103) | 1.99127954 |
| 62 | Abnormal urine output (HP:0012590) | 1.98816466 |
| 63 | Enlarged epiphyses (HP:0010580) | 1.97196448 |
| 64 | Tubulointerstitial fibrosis (HP:0005576) | 1.96895586 |
| 65 | Male pseudohermaphroditism (HP:0000037) | 1.96712576 |
| 66 | Bulbous nose (HP:0000414) | 1.96405911 |
| 67 | Congenital stationary night blindness (HP:0007642) | 1.96132540 |
| 68 | Renal dysplasia (HP:0000110) | 1.96024100 |
| 69 | Methylmalonic acidemia (HP:0002912) | 1.92561857 |
| 70 | Postaxial foot polydactyly (HP:0001830) | 1.88843096 |
| 71 | Increased corneal curvature (HP:0100692) | 1.87952883 |
| 72 | Keratoconus (HP:0000563) | 1.87952883 |
| 73 | Excessive salivation (HP:0003781) | 1.87904273 |
| 74 | Broad-based gait (HP:0002136) | 1.86917290 |
| 75 | Abnormality of the aortic arch (HP:0012303) | 1.84202997 |
| 76 | Pachygyria (HP:0001302) | 1.82618169 |
| 77 | Impulsivity (HP:0100710) | 1.81918762 |
| 78 | Abnormality of renal excretion (HP:0011036) | 1.80821283 |
| 79 | Stage 5 chronic kidney disease (HP:0003774) | 1.79824703 |
| 80 | Broad foot (HP:0001769) | 1.77767309 |
| 81 | Genetic anticipation (HP:0003743) | 1.76781470 |
| 82 | Atonic seizures (HP:0010819) | 1.76599823 |
| 83 | Hyperventilation (HP:0002883) | 1.75895295 |
| 84 | Prominent nasal bridge (HP:0000426) | 1.74942023 |
| 85 | Hyperkalemia (HP:0002153) | 1.73833617 |
| 86 | Postaxial hand polydactyly (HP:0001162) | 1.73126481 |
| 87 | Exotropia (HP:0000577) | 1.72896548 |
| 88 | Dialeptic seizures (HP:0011146) | 1.72806055 |
| 89 | Focal seizures (HP:0007359) | 1.72604573 |
| 90 | Hemiparesis (HP:0001269) | 1.71815077 |
| 91 | Abnormality of the nasal septum (HP:0000419) | 1.71762874 |
| 92 | Retinal dysplasia (HP:0007973) | 1.71184018 |
| 93 | Abnormal number of incisors (HP:0011064) | 1.66966493 |
| 94 | Bell-shaped thorax (HP:0001591) | 1.64313151 |
| 95 | Abnormality of chloride homeostasis (HP:0011422) | 1.64216615 |
| 96 | Occipital encephalocele (HP:0002085) | 1.64140166 |
| 97 | Intellectual disability, moderate (HP:0002342) | 1.64024001 |
| 98 | Oligodactyly (hands) (HP:0001180) | 1.63922293 |
| 99 | Shawl scrotum (HP:0000049) | 1.63233518 |
| 100 | Renal Fanconi syndrome (HP:0001994) | 1.62158092 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 3.84900557 |
| 2 | PNCK | 3.51432116 |
| 3 | MARK1 | 3.39291245 |
| 4 | FRK | 3.35926153 |
| 5 | CASK | 2.80504270 |
| 6 | DDR2 | 2.75974397 |
| 7 | BMPR1B | 2.73558077 |
| 8 | TNIK | 2.68506769 |
| 9 | MAPK15 | 2.48361860 |
| 10 | INSRR | 2.43872637 |
| 11 | WNK3 | 2.38329235 |
| 12 | NTRK3 | 2.19278597 |
| 13 | MAP3K4 | 2.08816409 |
| 14 | ADRBK2 | 1.95693226 |
| 15 | TIE1 | 1.88970093 |
| 16 | MAPK13 | 1.82265363 |
| 17 | DYRK2 | 1.80809070 |
| 18 | MAP4K2 | 1.68898089 |
| 19 | PINK1 | 1.62053547 |
| 20 | CAMK1G | 1.46020357 |
| 21 | PLK2 | 1.45039477 |
| 22 | NTRK2 | 1.45001732 |
| 23 | TYRO3 | 1.43590506 |
| 24 | SIK2 | 1.42985676 |
| 25 | WNK4 | 1.39771133 |
| 26 | MAP2K7 | 1.34851075 |
| 27 | EPHB2 | 1.32878439 |
| 28 | BRD4 | 1.26130368 |
| 29 | DYRK3 | 1.17111222 |
| 30 | PRKCG | 1.16382385 |
| 31 | DYRK1B | 1.14052205 |
| 32 | FGFR2 | 1.09313816 |
| 33 | PHKG2 | 1.09199813 |
| 34 | PHKG1 | 1.09199813 |
| 35 | PAK3 | 1.08315483 |
| 36 | UHMK1 | 1.07505813 |
| 37 | GRK1 | 1.07392556 |
| 38 | CDK3 | 1.04116425 |
| 39 | MKNK2 | 0.99409169 |
| 40 | ACVR1B | 0.98432636 |
| 41 | CDK19 | 0.96958469 |
| 42 | PRKD3 | 0.92603512 |
| 43 | MAP2K4 | 0.90627757 |
| 44 | NME1 | 0.90271701 |
| 45 | TESK1 | 0.89134285 |
| 46 | WNK1 | 0.88141098 |
| 47 | LMTK2 | 0.87699372 |
| 48 | CAMK1 | 0.83267344 |
| 49 | NEK2 | 0.82241494 |
| 50 | TAOK3 | 0.79449125 |
| 51 | PIK3CA | 0.76784585 |
| 52 | PRKCE | 0.75818656 |
| 53 | SGK223 | 0.75013590 |
| 54 | SGK494 | 0.75013590 |
| 55 | EPHA4 | 0.72745448 |
| 56 | TGFBR1 | 0.72160364 |
| 57 | AKT3 | 0.71372103 |
| 58 | NUAK1 | 0.71068365 |
| 59 | MINK1 | 0.70673655 |
| 60 | PRKG1 | 0.69305480 |
| 61 | SGK1 | 0.68653940 |
| 62 | STK38L | 0.68274344 |
| 63 | DYRK1A | 0.63855864 |
| 64 | STK38 | 0.63814356 |
| 65 | RPS6KA4 | 0.63786960 |
| 66 | SGK2 | 0.63495268 |
| 67 | BCR | 0.60482437 |
| 68 | MAP3K6 | 0.60282173 |
| 69 | CAMK1D | 0.58666405 |
| 70 | PKN1 | 0.58406946 |
| 71 | ADRBK1 | 0.57989079 |
| 72 | PRKAA2 | 0.57661217 |
| 73 | CAMK2A | 0.57251252 |
| 74 | MAP3K9 | 0.57132572 |
| 75 | PRKG2 | 0.55370960 |
| 76 | TRPM7 | 0.55358750 |
| 77 | PRKACB | 0.55296862 |
| 78 | PRKAA1 | 0.54608344 |
| 79 | PASK | 0.54513196 |
| 80 | CSNK1G2 | 0.53093161 |
| 81 | STK11 | 0.51190352 |
| 82 | PRKCZ | 0.45384031 |
| 83 | RPS6KA6 | 0.45125654 |
| 84 | PRKACA | 0.44444750 |
| 85 | DMPK | 0.40642773 |
| 86 | RPS6KA2 | 0.39007918 |
| 87 | CSNK1E | 0.38817562 |
| 88 | CSNK1G1 | 0.37341319 |
| 89 | GSK3B | 0.37155141 |
| 90 | ERBB2 | 0.36445236 |
| 91 | BCKDK | 0.34704044 |
| 92 | CAMK4 | 0.33785068 |
| 93 | PIK3CG | 0.33518723 |
| 94 | ZAK | 0.33144522 |
| 95 | CDK5 | 0.33039241 |
| 96 | CHUK | 0.32219120 |
| 97 | ERBB3 | 0.30542192 |
| 98 | RPS6KL1 | 0.30229138 |
| 99 | RPS6KC1 | 0.30229138 |
| 100 | RPS6KA3 | 0.29675920 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.39268738 |
| 2 | Nicotine addiction_Homo sapiens_hsa05033 | 2.87439870 |
| 3 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.57803881 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.38637049 |
| 5 | Taste transduction_Homo sapiens_hsa04742 | 2.11840550 |
| 6 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.09919072 |
| 7 | Olfactory transduction_Homo sapiens_hsa04740 | 2.09563516 |
| 8 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 2.05591136 |
| 9 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.96715219 |
| 10 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.85835620 |
| 11 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.83489377 |
| 12 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.82380450 |
| 13 | Phototransduction_Homo sapiens_hsa04744 | 1.72309989 |
| 14 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.66460430 |
| 15 | Insulin secretion_Homo sapiens_hsa04911 | 1.65647148 |
| 16 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.64564495 |
| 17 | Morphine addiction_Homo sapiens_hsa05032 | 1.64326573 |
| 18 | Cocaine addiction_Homo sapiens_hsa05030 | 1.57171943 |
| 19 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.57077275 |
| 20 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.56269362 |
| 21 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.51340942 |
| 22 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.51266366 |
| 23 | GABAergic synapse_Homo sapiens_hsa04727 | 1.47283505 |
| 24 | Circadian entrainment_Homo sapiens_hsa04713 | 1.44824420 |
| 25 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.34119032 |
| 26 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.33944257 |
| 27 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.33202001 |
| 28 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.31810801 |
| 29 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.29943664 |
| 30 | ABC transporters_Homo sapiens_hsa02010 | 1.26701992 |
| 31 | Basal cell carcinoma_Homo sapiens_hsa05217 | 1.24948977 |
| 32 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.24843716 |
| 33 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.21582101 |
| 34 | Basal transcription factors_Homo sapiens_hsa03022 | 1.20043383 |
| 35 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.19544746 |
| 36 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.13101460 |
| 37 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.07256482 |
| 38 | Dopaminergic synapse_Homo sapiens_hsa04728 | 1.06721791 |
| 39 | Ribosome_Homo sapiens_hsa03010 | 1.05794040 |
| 40 | Huntingtons disease_Homo sapiens_hsa05016 | 1.03333979 |
| 41 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.02272101 |
| 42 | Cholinergic synapse_Homo sapiens_hsa04725 | 1.01944128 |
| 43 | cAMP signaling pathway_Homo sapiens_hsa04024 | 1.00805219 |
| 44 | Retinol metabolism_Homo sapiens_hsa00830 | 1.00768615 |
| 45 | Circadian rhythm_Homo sapiens_hsa04710 | 0.99414272 |
| 46 | Parkinsons disease_Homo sapiens_hsa05012 | 0.98683149 |
| 47 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.96398897 |
| 48 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.93300899 |
| 49 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.92748491 |
| 50 | Salivary secretion_Homo sapiens_hsa04970 | 0.92296940 |
| 51 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.92290073 |
| 52 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.92087594 |
| 53 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.86770383 |
| 54 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.85856740 |
| 55 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.83245661 |
| 56 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.80962673 |
| 57 | Axon guidance_Homo sapiens_hsa04360 | 0.80446893 |
| 58 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.80445849 |
| 59 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.80228153 |
| 60 | Renin secretion_Homo sapiens_hsa04924 | 0.77347638 |
| 61 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.77075383 |
| 62 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.77047715 |
| 63 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.75673093 |
| 64 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.75471643 |
| 65 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.72470328 |
| 66 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.69276910 |
| 67 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.67922824 |
| 68 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.66620592 |
| 69 | Bile secretion_Homo sapiens_hsa04976 | 0.65714653 |
| 70 | Long-term depression_Homo sapiens_hsa04730 | 0.65681492 |
| 71 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.65247033 |
| 72 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.63677158 |
| 73 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.62193374 |
| 74 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.62155846 |
| 75 | Peroxisome_Homo sapiens_hsa04146 | 0.61405714 |
| 76 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.60945571 |
| 77 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.58416062 |
| 78 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.57201900 |
| 79 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.57131441 |
| 80 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.55970839 |
| 81 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.55634756 |
| 82 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.55397525 |
| 83 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.54389958 |
| 84 | Alzheimers disease_Homo sapiens_hsa05010 | 0.51167352 |
| 85 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.49046319 |
| 86 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.48930596 |
| 87 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.47765780 |
| 88 | Protein export_Homo sapiens_hsa03060 | 0.46599910 |
| 89 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.43448305 |
| 90 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.41842936 |
| 91 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.41738003 |
| 92 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.41667259 |
| 93 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.41005678 |
| 94 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.40945140 |
| 95 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.40664195 |
| 96 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.40008716 |
| 97 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.39392093 |
| 98 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.38090295 |
| 99 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 0.37893317 |
| 100 | Mineral absorption_Homo sapiens_hsa04978 | 0.35355996 |

