

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | acrosome reaction (GO:0007340) | 9.82648582 |
| 2 | sperm motility (GO:0030317) | 8.84149390 |
| 3 | response to pheromone (GO:0019236) | 7.89904414 |
| 4 | fusion of sperm to egg plasma membrane (GO:0007342) | 7.75227079 |
| 5 | RNA destabilization (GO:0050779) | 6.75667413 |
| 6 | spermatid development (GO:0007286) | 6.69000600 |
| 7 | axonemal dynein complex assembly (GO:0070286) | 6.53779964 |
| 8 | alkaloid metabolic process (GO:0009820) | 6.45747245 |
| 9 | cellular ketone body metabolic process (GO:0046950) | 6.00920646 |
| 10 | multicellular organism reproduction (GO:0032504) | 5.96384613 |
| 11 | plasma membrane fusion (GO:0045026) | 5.86477637 |
| 12 | rRNA methylation (GO:0031167) | 5.63636779 |
| 13 | sperm-egg recognition (GO:0035036) | 5.55387890 |
| 14 | calcium ion-dependent exocytosis (GO:0017156) | 5.43493191 |
| 15 | single strand break repair (GO:0000012) | 5.32760266 |
| 16 | microtubule depolymerization (GO:0007019) | 5.31833108 |
| 17 | ketone body metabolic process (GO:1902224) | 5.28986594 |
| 18 | DNA packaging (GO:0006323) | 5.28098454 |
| 19 | sperm capacitation (GO:0048240) | 5.27920283 |
| 20 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.22757879 |
| 21 | reproduction (GO:0000003) | 5.20278889 |
| 22 | protein polyglutamylation (GO:0018095) | 5.18497967 |
| 23 | protein targeting to Golgi (GO:0000042) | 5.08353595 |
| 24 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.08115125 |
| 25 | establishment of protein localization to Golgi (GO:0072600) | 4.95639049 |
| 26 | chromosome condensation (GO:0030261) | 4.94931843 |
| 27 | indolalkylamine metabolic process (GO:0006586) | 4.91697353 |
| 28 | dopamine biosynthetic process (GO:0042416) | 4.89688941 |
| 29 | peptidyl-threonine dephosphorylation (GO:0035970) | 4.86911364 |
| 30 | spermatid nucleus differentiation (GO:0007289) | 4.86349994 |
| 31 | binding of sperm to zona pellucida (GO:0007339) | 4.85417831 |
| 32 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 4.73572391 |
| 33 | response to insecticide (GO:0017085) | 4.71267115 |
| 34 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 4.69593709 |
| 35 | regulation of cilium movement (GO:0003352) | 4.67518682 |
| 36 | cell-cell recognition (GO:0009988) | 4.63464389 |
| 37 | meiotic chromosome segregation (GO:0045132) | 4.63082256 |
| 38 | negative regulation of inclusion body assembly (GO:0090084) | 4.60883997 |
| 39 | spermatogenesis (GO:0007283) | 4.60852288 |
| 40 | male gamete generation (GO:0048232) | 4.59574663 |
| 41 | rRNA modification (GO:0000154) | 4.53769205 |
| 42 | primary amino compound metabolic process (GO:1901160) | 4.52302018 |
| 43 | piRNA metabolic process (GO:0034587) | 4.49121771 |
| 44 | serotonin metabolic process (GO:0042428) | 4.42332748 |
| 45 | single fertilization (GO:0007338) | 4.40580416 |
| 46 | histone H3-K9 methylation (GO:0051567) | 4.33557998 |
| 47 | epithelial cilium movement (GO:0003351) | 4.33483371 |
| 48 | toxin metabolic process (GO:0009404) | 4.32535861 |
| 49 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.32298231 |
| 50 | gamete generation (GO:0007276) | 4.28658000 |
| 51 | mitochondrion degradation (GO:0000422) | 4.21092109 |
| 52 | microtubule polymerization or depolymerization (GO:0031109) | 4.19795039 |
| 53 | centriole replication (GO:0007099) | 4.14923020 |
| 54 | motile cilium assembly (GO:0044458) | 4.08435655 |
| 55 | centriole assembly (GO:0098534) | 3.98028100 |
| 56 | sexual reproduction (GO:0019953) | 3.90073651 |
| 57 | germ cell development (GO:0007281) | 3.84145314 |
| 58 | male meiosis I (GO:0007141) | 3.82303294 |
| 59 | fertilization (GO:0009566) | 3.78936632 |
| 60 | L-fucose catabolic process (GO:0042355) | 3.76663689 |
| 61 | fucose catabolic process (GO:0019317) | 3.76663689 |
| 62 | L-fucose metabolic process (GO:0042354) | 3.76663689 |
| 63 | cellular biogenic amine biosynthetic process (GO:0042401) | 3.76409860 |
| 64 | protein localization to Golgi apparatus (GO:0034067) | 3.71751995 |
| 65 | cilium movement (GO:0003341) | 3.68393822 |
| 66 | seminiferous tubule development (GO:0072520) | 3.62429806 |
| 67 | coenzyme catabolic process (GO:0009109) | 3.61461648 |
| 68 | amine biosynthetic process (GO:0009309) | 3.57930393 |
| 69 | microtubule severing (GO:0051013) | 3.55720096 |
| 70 | regulation of microtubule-based movement (GO:0060632) | 3.54983367 |
| 71 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.51441421 |
| 72 | male meiosis (GO:0007140) | 3.46750664 |
| 73 | positive regulation of Rab GTPase activity (GO:0032851) | 3.42001055 |
| 74 | regulation of Rab GTPase activity (GO:0032313) | 3.42001055 |
| 75 | indole-containing compound metabolic process (GO:0042430) | 3.39625679 |
| 76 | multicellular organismal reproductive process (GO:0048609) | 3.38208846 |
| 77 | organic cation transport (GO:0015695) | 3.37522340 |
| 78 | regulation of meiosis I (GO:0060631) | 3.32695228 |
| 79 | histone H3-K9 modification (GO:0061647) | 3.31865720 |
| 80 | DNA methylation involved in gamete generation (GO:0043046) | 3.30148563 |
| 81 | RNA localization (GO:0006403) | 3.20702929 |
| 82 | detection of light stimulus involved in sensory perception (GO:0050962) | 3.15523125 |
| 83 | detection of light stimulus involved in visual perception (GO:0050908) | 3.15523125 |
| 84 | histone H3-K4 trimethylation (GO:0080182) | 3.15291634 |
| 85 | meiosis I (GO:0007127) | 3.11222449 |
| 86 | cell wall macromolecule metabolic process (GO:0044036) | 3.11127781 |
| 87 | positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213) | 3.10734650 |
| 88 | regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060211) | 3.10734650 |
| 89 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.04075839 |
| 90 | urinary tract smooth muscle contraction (GO:0014848) | 3.02834307 |
| 91 | poly(A)+ mRNA export from nucleus (GO:0016973) | 3.02055063 |
| 92 | regulation of inclusion body assembly (GO:0090083) | 3.01940904 |
| 93 | interkinetic nuclear migration (GO:0022027) | 2.99444967 |
| 94 | multicellular organismal aging (GO:0010259) | 2.99295313 |
| 95 | Golgi to endosome transport (GO:0006895) | 2.91989884 |
| 96 | cilium assembly (GO:0042384) | 2.89556905 |
| 97 | cilium organization (GO:0044782) | 2.85027314 |
| 98 | multicellular organismal movement (GO:0050879) | 2.83571058 |
| 99 | musculoskeletal movement (GO:0050881) | 2.83571058 |
| 100 | spinal cord motor neuron differentiation (GO:0021522) | 2.81031454 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.13705710 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.91737300 |
| 3 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.67257990 |
| 4 | VDR_22108803_ChIP-Seq_LS180_Human | 2.64496709 |
| 5 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.62394867 |
| 6 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.53989752 |
| 7 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.38903668 |
| 8 | FUS_26573619_Chip-Seq_HEK293_Human | 2.38365758 |
| 9 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.36767505 |
| 10 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.35758925 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.30203138 |
| 12 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.30203138 |
| 13 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.29707850 |
| 14 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.20362843 |
| 15 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.19980941 |
| 16 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.13342154 |
| 17 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 2.07183064 |
| 18 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.02308123 |
| 19 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.98238521 |
| 20 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.98238521 |
| 21 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.91186222 |
| 22 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.84133877 |
| 23 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.74653926 |
| 24 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.70448143 |
| 25 | P300_19829295_ChIP-Seq_ESCs_Human | 1.68174623 |
| 26 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.64699385 |
| 27 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.58768241 |
| 28 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.55058098 |
| 29 | AR_25329375_ChIP-Seq_VCAP_Human | 1.54285297 |
| 30 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.53099586 |
| 31 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.49054486 |
| 32 | ERA_21632823_ChIP-Seq_H3396_Human | 1.47033001 |
| 33 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.46096460 |
| 34 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.46094415 |
| 35 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.44179085 |
| 36 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.43327759 |
| 37 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.40851142 |
| 38 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.40677613 |
| 39 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.40221905 |
| 40 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.40122448 |
| 41 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.38673320 |
| 42 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.37309845 |
| 43 | STAT3_23295773_ChIP-Seq_U87_Human | 1.36757786 |
| 44 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.36289934 |
| 45 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.36170756 |
| 46 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.34982931 |
| 47 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.34159483 |
| 48 | TCF4_23295773_ChIP-Seq_U87_Human | 1.33041055 |
| 49 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.31751668 |
| 50 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.30196675 |
| 51 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.29196422 |
| 52 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.28611482 |
| 53 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.28611482 |
| 54 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.25687701 |
| 55 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.24912511 |
| 56 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.24787988 |
| 57 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.24712927 |
| 58 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.24659209 |
| 59 | TBL1_22424771_ChIP-Seq_293T_Human | 1.23969568 |
| 60 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.22685598 |
| 61 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.21397536 |
| 62 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.19256345 |
| 63 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.17675634 |
| 64 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.17636065 |
| 65 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.16650427 |
| 66 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.16650427 |
| 67 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.14085050 |
| 68 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.13991328 |
| 69 | EWS_26573619_Chip-Seq_HEK293_Human | 1.12718571 |
| 70 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.12569339 |
| 71 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.11439383 |
| 72 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.11168590 |
| 73 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.09951313 |
| 74 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.09628315 |
| 75 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.08860571 |
| 76 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.08805567 |
| 77 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.07762389 |
| 78 | NCOR_22424771_ChIP-Seq_293T_Human | 1.07579780 |
| 79 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.07554034 |
| 80 | NFYB_21822215_ChIP-Seq_K562_Human | 1.07528662 |
| 81 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.06648913 |
| 82 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.06379294 |
| 83 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.04830273 |
| 84 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.04370910 |
| 85 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.04176923 |
| 86 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.01888530 |
| 87 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.00745741 |
| 88 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.00221656 |
| 89 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.00045056 |
| 90 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 0.98958914 |
| 91 | NFYA_21822215_ChIP-Seq_K562_Human | 0.98570668 |
| 92 | CTCF_27219007_Chip-Seq_Bcells_Human | 0.97934848 |
| 93 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 0.97748517 |
| 94 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 0.97479552 |
| 95 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 0.97366264 |
| 96 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 0.96332772 |
| 97 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 0.96073992 |
| 98 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 0.95619712 |
| 99 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 0.94847400 |
| 100 | TAF2_19829295_ChIP-Seq_ESCs_Human | 0.94830202 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 8.78024048 |
| 2 | MP0000569_abnormal_digit_pigmentation | 4.18959832 |
| 3 | MP0003698_abnormal_male_reproductive | 3.64655459 |
| 4 | MP0003878_abnormal_ear_physiology | 3.33485240 |
| 5 | MP0005377_hearing/vestibular/ear_phenot | 3.33485240 |
| 6 | MP0001929_abnormal_gametogenesis | 3.15246464 |
| 7 | MP0005423_abnormal_somatic_nervous | 3.14544763 |
| 8 | MP0005670_abnormal_white_adipose | 3.05982852 |
| 9 | MP0008877_abnormal_DNA_methylation | 2.62668518 |
| 10 | MP0003880_abnormal_central_pattern | 2.57420046 |
| 11 | MP0003011_delayed_dark_adaptation | 2.02622722 |
| 12 | MP0001905_abnormal_dopamine_level | 1.97658056 |
| 13 | MP0005645_abnormal_hypothalamus_physiol | 1.97156975 |
| 14 | MP0002161_abnormal_fertility/fecundity | 1.92227438 |
| 15 | MP0002210_abnormal_sex_determination | 1.80746883 |
| 16 | MP0003787_abnormal_imprinting | 1.79967396 |
| 17 | MP0005310_abnormal_salivary_gland | 1.79258036 |
| 18 | MP0004742_abnormal_vestibular_system | 1.77643760 |
| 19 | MP0004484_altered_response_of | 1.70530856 |
| 20 | MP0002138_abnormal_hepatobiliary_system | 1.66508077 |
| 21 | MP0009046_muscle_twitch | 1.64779064 |
| 22 | MP0009745_abnormal_behavioral_response | 1.64232940 |
| 23 | MP0005551_abnormal_eye_electrophysiolog | 1.62606380 |
| 24 | MP0003646_muscle_fatigue | 1.49816006 |
| 25 | MP0000653_abnormal_sex_gland | 1.42172734 |
| 26 | MP0003718_maternal_effect | 1.41967333 |
| 27 | MP0004381_abnormal_hair_follicle | 1.41842034 |
| 28 | MP0001145_abnormal_male_reproductive | 1.41521371 |
| 29 | MP0001486_abnormal_startle_reflex | 1.40303324 |
| 30 | MP0005253_abnormal_eye_physiology | 1.39474442 |
| 31 | MP0002928_abnormal_bile_duct | 1.39004361 |
| 32 | MP0001968_abnormal_touch/_nociception | 1.37691624 |
| 33 | MP0002735_abnormal_chemical_nociception | 1.37246906 |
| 34 | MP0002572_abnormal_emotion/affect_behav | 1.34746497 |
| 35 | MP0002132_abnormal_respiratory_system | 1.34269279 |
| 36 | MP0009697_abnormal_copulation | 1.34100833 |
| 37 | MP0005075_abnormal_melanosome_morpholog | 1.31227953 |
| 38 | MP0002067_abnormal_sensory_capabilities | 1.28298183 |
| 39 | MP0000631_abnormal_neuroendocrine_gland | 1.26625997 |
| 40 | MP0006292_abnormal_olfactory_placode | 1.24668573 |
| 41 | MP0002064_seizures | 1.24592789 |
| 42 | MP0001485_abnormal_pinna_reflex | 1.24003439 |
| 43 | MP0002557_abnormal_social/conspecific_i | 1.23752403 |
| 44 | MP0000015_abnormal_ear_pigmentation | 1.23694075 |
| 45 | MP0002822_catalepsy | 1.20928617 |
| 46 | MP0002272_abnormal_nervous_system | 1.19761879 |
| 47 | MP0006072_abnormal_retinal_apoptosis | 1.17890694 |
| 48 | MP0000026_abnormal_inner_ear | 1.12750208 |
| 49 | MP0004859_abnormal_synaptic_plasticity | 1.12209376 |
| 50 | MP0003635_abnormal_synaptic_transmissio | 1.09894035 |
| 51 | MP0005220_abnormal_exocrine_pancreas | 1.06214227 |
| 52 | MP0004215_abnormal_myocardial_fiber | 1.04177232 |
| 53 | MP0004142_abnormal_muscle_tone | 1.02352265 |
| 54 | MP0001963_abnormal_hearing_physiology | 0.98362828 |
| 55 | MP0004885_abnormal_endolymph | 0.95680997 |
| 56 | MP0002693_abnormal_pancreas_physiology | 0.95672690 |
| 57 | MP0002127_abnormal_cardiovascular_syste | 0.95421008 |
| 58 | MP0002229_neurodegeneration | 0.94299557 |
| 59 | MP0005646_abnormal_pituitary_gland | 0.92488712 |
| 60 | MP0002733_abnormal_thermal_nociception | 0.91419486 |
| 61 | MP0006276_abnormal_autonomic_nervous | 0.90967095 |
| 62 | MP0005084_abnormal_gallbladder_morpholo | 0.90185612 |
| 63 | MP0001293_anophthalmia | 0.88483073 |
| 64 | MP0002063_abnormal_learning/memory/cond | 0.88216297 |
| 65 | MP0001879_abnormal_lymphatic_vessel | 0.86091513 |
| 66 | MP0001764_abnormal_homeostasis | 0.85273476 |
| 67 | MP0000955_abnormal_spinal_cord | 0.85075784 |
| 68 | MP0001970_abnormal_pain_threshold | 0.83946993 |
| 69 | MP0008872_abnormal_physiological_respon | 0.82658365 |
| 70 | MP0005332_abnormal_amino_acid | 0.81947939 |
| 71 | MP0001348_abnormal_lacrimal_gland | 0.81761710 |
| 72 | MP0005379_endocrine/exocrine_gland_phen | 0.80896290 |
| 73 | MP0002184_abnormal_innervation | 0.78569161 |
| 74 | MP0001765_abnormal_ion_homeostasis | 0.78000247 |
| 75 | MP0005535_abnormal_body_temperature | 0.76354871 |
| 76 | MP0002102_abnormal_ear_morphology | 0.76106148 |
| 77 | MP0002234_abnormal_pharynx_morphology | 0.75257164 |
| 78 | MP0009115_abnormal_fat_cell | 0.73421809 |
| 79 | MP0005395_other_phenotype | 0.71092293 |
| 80 | MP0003195_calcinosis | 0.70801950 |
| 81 | MP0003942_abnormal_urinary_system | 0.69242192 |
| 82 | MP0004085_abnormal_heartbeat | 0.67279225 |
| 83 | MP0003121_genomic_imprinting | 0.65200044 |
| 84 | MP0005085_abnormal_gallbladder_physiolo | 0.62306085 |
| 85 | MP0005391_vision/eye_phenotype | 0.61487285 |
| 86 | MP0010386_abnormal_urinary_bladder | 0.61397806 |
| 87 | MP0003631_nervous_system_phenotype | 0.61223592 |
| 88 | MP0000534_abnormal_ureter_morphology | 0.61067753 |
| 89 | MP0001986_abnormal_taste_sensitivity | 0.60900023 |
| 90 | MP0002882_abnormal_neuron_morphology | 0.60186813 |
| 91 | MP0002752_abnormal_somatic_nervous | 0.60004137 |
| 92 | MP0008569_lethality_at_weaning | 0.59708039 |
| 93 | MP0002249_abnormal_larynx_morphology | 0.58963889 |
| 94 | MP0003633_abnormal_nervous_system | 0.58096340 |
| 95 | MP0001324_abnormal_eye_pigmentation | 0.56859625 |
| 96 | MP0001286_abnormal_eye_development | 0.55521965 |
| 97 | MP0003638_abnormal_response/metabolism_ | 0.50078239 |
| 98 | MP0005167_abnormal_blood-brain_barrier | 0.49817422 |
| 99 | MP0000230_abnormal_systemic_arterial | 0.48810440 |
| 100 | MP0004924_abnormal_behavior | 0.48025414 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Hypothermia (HP:0002045) | 6.13318147 |
| 2 | Severe visual impairment (HP:0001141) | 6.09713480 |
| 3 | Abnormal pupillary function (HP:0007686) | 5.99236596 |
| 4 | Limb dystonia (HP:0002451) | 5.95680755 |
| 5 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.33420378 |
| 6 | Limb hypertonia (HP:0002509) | 4.66282162 |
| 7 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 4.59659042 |
| 8 | Absent/shortened dynein arms (HP:0200106) | 4.59659042 |
| 9 | Attenuation of retinal blood vessels (HP:0007843) | 4.56746170 |
| 10 | Chronic hepatic failure (HP:0100626) | 4.41919927 |
| 11 | Abnormal rod and cone electroretinograms (HP:0008323) | 4.35418999 |
| 12 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.28485710 |
| 13 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.28485710 |
| 14 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.27210793 |
| 15 | Abnormal ciliary motility (HP:0012262) | 4.18224698 |
| 16 | Medial flaring of the eyebrow (HP:0010747) | 3.67513611 |
| 17 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.59791678 |
| 18 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.52799712 |
| 19 | Acute lymphatic leukemia (HP:0006721) | 3.48132193 |
| 20 | Retinal dysplasia (HP:0007973) | 3.36913849 |
| 21 | Decreased central vision (HP:0007663) | 3.23981791 |
| 22 | Hyperkalemia (HP:0002153) | 3.16625249 |
| 23 | Type II lissencephaly (HP:0007260) | 3.00397839 |
| 24 | Abnormality of macular pigmentation (HP:0008002) | 2.98997930 |
| 25 | Rhinitis (HP:0012384) | 2.91494934 |
| 26 | Abnormal drinking behavior (HP:0030082) | 2.86926255 |
| 27 | Polydipsia (HP:0001959) | 2.86926255 |
| 28 | Nephronophthisis (HP:0000090) | 2.85059689 |
| 29 | Abnormality of midbrain morphology (HP:0002418) | 2.83738187 |
| 30 | Molar tooth sign on MRI (HP:0002419) | 2.83738187 |
| 31 | Impulsivity (HP:0100710) | 2.83296813 |
| 32 | Progressive cerebellar ataxia (HP:0002073) | 2.82424767 |
| 33 | Generalized aminoaciduria (HP:0002909) | 2.76922242 |
| 34 | Mesangial abnormality (HP:0001966) | 2.66498113 |
| 35 | Resting tremor (HP:0002322) | 2.63712427 |
| 36 | Cerebellar dysplasia (HP:0007033) | 2.56733114 |
| 37 | Renal Fanconi syndrome (HP:0001994) | 2.56358689 |
| 38 | Postural instability (HP:0002172) | 2.53784183 |
| 39 | Infertility (HP:0000789) | 2.47380442 |
| 40 | Focal motor seizures (HP:0011153) | 2.45917723 |
| 41 | Pigmentary retinal degeneration (HP:0001146) | 2.40857978 |
| 42 | Portal hypertension (HP:0001409) | 2.34619140 |
| 43 | Abnormal urine output (HP:0012590) | 2.34466025 |
| 44 | Abnormality of the renal medulla (HP:0100957) | 2.33124031 |
| 45 | Polyuria (HP:0000103) | 2.28824520 |
| 46 | Chronic sinusitis (HP:0011109) | 2.28041592 |
| 47 | Absent rod-and cone-mediated responses on ERG (HP:0007688) | 2.27407975 |
| 48 | Abnormality of the pubic bones (HP:0003172) | 2.23285122 |
| 49 | Type 2 muscle fiber atrophy (HP:0003554) | 2.22612966 |
| 50 | 3-Methylglutaconic aciduria (HP:0003535) | 2.22352502 |
| 51 | Truncal obesity (HP:0001956) | 2.20734399 |
| 52 | Potter facies (HP:0002009) | 2.19615372 |
| 53 | Facial shape deformation (HP:0011334) | 2.19615372 |
| 54 | Glycosuria (HP:0003076) | 2.18190787 |
| 55 | Abnormality of urine glucose concentration (HP:0011016) | 2.18190787 |
| 56 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.17976357 |
| 57 | Bile duct proliferation (HP:0001408) | 2.16717198 |
| 58 | Abnormal biliary tract physiology (HP:0012439) | 2.16717198 |
| 59 | Hypoplastic ischia (HP:0003175) | 2.15331693 |
| 60 | Tubulointerstitial nephritis (HP:0001970) | 2.14629720 |
| 61 | Pancreatic cysts (HP:0001737) | 2.14595898 |
| 62 | Abnormality of the hepatic vasculature (HP:0006707) | 2.13343086 |
| 63 | Bronchiectasis (HP:0002110) | 2.04444526 |
| 64 | Chronic bronchitis (HP:0004469) | 2.04014707 |
| 65 | Pancreatic fibrosis (HP:0100732) | 2.01774564 |
| 66 | Abnormality of incisor morphology (HP:0011063) | 2.00579260 |
| 67 | Genetic anticipation (HP:0003743) | 1.99377029 |
| 68 | Abnormality of renal excretion (HP:0011036) | 1.94025880 |
| 69 | Midline defect of the nose (HP:0004122) | 1.92776935 |
| 70 | Large for gestational age (HP:0001520) | 1.92557957 |
| 71 | Asymmetric septal hypertrophy (HP:0001670) | 1.91988298 |
| 72 | Amelogenesis imperfecta (HP:0000705) | 1.91868837 |
| 73 | Exertional dyspnea (HP:0002875) | 1.91683094 |
| 74 | Inability to walk (HP:0002540) | 1.88127040 |
| 75 | Thyroid-stimulating hormone excess (HP:0002925) | 1.87221228 |
| 76 | Muscle fiber atrophy (HP:0100295) | 1.87070709 |
| 77 | Abnormality of the ischium (HP:0003174) | 1.86686034 |
| 78 | Optic nerve hypoplasia (HP:0000609) | 1.83904050 |
| 79 | Stage 5 chronic kidney disease (HP:0003774) | 1.83350205 |
| 80 | Abnormality of potassium homeostasis (HP:0011042) | 1.81609202 |
| 81 | Dialeptic seizures (HP:0011146) | 1.80740866 |
| 82 | Hypoplasia of the thymus (HP:0000778) | 1.80144546 |
| 83 | Lipid accumulation in hepatocytes (HP:0006561) | 1.80003499 |
| 84 | Male infertility (HP:0003251) | 1.77954895 |
| 85 | Enlarged epiphyses (HP:0010580) | 1.77109218 |
| 86 | Cone-rod dystrophy (HP:0000548) | 1.76013805 |
| 87 | Abnormal spermatogenesis (HP:0008669) | 1.74762414 |
| 88 | Prominent nasal bridge (HP:0000426) | 1.74421915 |
| 89 | Myokymia (HP:0002411) | 1.73224535 |
| 90 | Nasal polyposis (HP:0100582) | 1.68201758 |
| 91 | Photophobia (HP:0000613) | 1.64781771 |
| 92 | Multicystic kidney dysplasia (HP:0000003) | 1.64278686 |
| 93 | Fatigable weakness (HP:0003473) | 1.63709523 |
| 94 | Abnormality of the neuromuscular junction (HP:0003398) | 1.63709523 |
| 95 | Gait imbalance (HP:0002141) | 1.63597834 |
| 96 | Vaginal atresia (HP:0000148) | 1.63260758 |
| 97 | Bulbous nose (HP:0000414) | 1.63042532 |
| 98 | Genital tract atresia (HP:0001827) | 1.61788750 |
| 99 | Focal segmental glomerulosclerosis (HP:0000097) | 1.60251931 |
| 100 | Abnormality of renal resorption (HP:0011038) | 1.57882474 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MAP3K9 | 5.63142600 |
| 2 | BLK | 4.48467687 |
| 3 | PLK4 | 4.06623670 |
| 4 | PINK1 | 3.21229894 |
| 5 | MAP4K2 | 3.10025898 |
| 6 | BRD4 | 3.07243364 |
| 7 | TESK1 | 2.77971529 |
| 8 | FRK | 2.39940838 |
| 9 | ADRBK2 | 2.36076875 |
| 10 | PNCK | 2.13575677 |
| 11 | INSRR | 2.05683416 |
| 12 | PDK1 | 2.00692371 |
| 13 | CDK19 | 1.93495330 |
| 14 | PDPK1 | 1.93227440 |
| 15 | CAMK1G | 1.89739089 |
| 16 | DDR2 | 1.88361785 |
| 17 | STK38 | 1.87084447 |
| 18 | LATS1 | 1.70323811 |
| 19 | TAF1 | 1.59458372 |
| 20 | MARK1 | 1.57324662 |
| 21 | OXSR1 | 1.37016422 |
| 22 | GRK1 | 1.35927493 |
| 23 | STK38L | 1.33190980 |
| 24 | PTK2B | 1.31605014 |
| 25 | CAMK1D | 1.28438589 |
| 26 | MAP3K7 | 1.25939964 |
| 27 | PIK3CG | 1.25236811 |
| 28 | NTRK2 | 1.21882315 |
| 29 | SIK2 | 1.21720228 |
| 30 | MAPK15 | 1.20922471 |
| 31 | CAMK4 | 1.20361012 |
| 32 | MUSK | 1.07625969 |
| 33 | PLK2 | 1.06504352 |
| 34 | NUAK1 | 1.05896274 |
| 35 | MAPK13 | 1.01336669 |
| 36 | TLK1 | 1.00814986 |
| 37 | RIPK4 | 0.94326565 |
| 38 | CAMK1 | 0.92476572 |
| 39 | STK39 | 0.92250772 |
| 40 | CDK3 | 0.90172322 |
| 41 | DAPK2 | 0.90086574 |
| 42 | KIT | 0.86682677 |
| 43 | FLT3 | 0.83104287 |
| 44 | PRKD3 | 0.82434191 |
| 45 | DYRK2 | 0.81999405 |
| 46 | SYK | 0.74195151 |
| 47 | MAP3K4 | 0.72750151 |
| 48 | MAPKAPK5 | 0.71207145 |
| 49 | MARK2 | 0.70150985 |
| 50 | BRAF | 0.69387546 |
| 51 | NEK2 | 0.68923815 |
| 52 | MAP2K7 | 0.65693671 |
| 53 | CAMKK2 | 0.65474096 |
| 54 | VRK1 | 0.65472961 |
| 55 | PRKCE | 0.63827609 |
| 56 | FGFR2 | 0.62470874 |
| 57 | PRKG1 | 0.62072954 |
| 58 | BMPR1B | 0.62053830 |
| 59 | TYRO3 | 0.61303112 |
| 60 | ACVR1B | 0.60823354 |
| 61 | TEC | 0.58117654 |
| 62 | PRKCG | 0.57650901 |
| 63 | OBSCN | 0.57188635 |
| 64 | WNK1 | 0.56053293 |
| 65 | CSF1R | 0.55544720 |
| 66 | MAP2K2 | 0.54678387 |
| 67 | RPS6KA4 | 0.52973242 |
| 68 | MARK3 | 0.52902185 |
| 69 | PKN1 | 0.46218887 |
| 70 | STK3 | 0.46050478 |
| 71 | TXK | 0.45773182 |
| 72 | DYRK1B | 0.45493891 |
| 73 | RPS6KA5 | 0.45454278 |
| 74 | FES | 0.42649472 |
| 75 | NEK6 | 0.42072861 |
| 76 | PRKG2 | 0.40089319 |
| 77 | PRKACB | 0.39945475 |
| 78 | CDK7 | 0.39521291 |
| 79 | WNK3 | 0.39041755 |
| 80 | WNK4 | 0.36748249 |
| 81 | GSK3B | 0.36563734 |
| 82 | HIPK2 | 0.36439488 |
| 83 | PASK | 0.35621157 |
| 84 | CAMK2A | 0.34891434 |
| 85 | MAPK12 | 0.34642458 |
| 86 | ROCK1 | 0.32022934 |
| 87 | SGK1 | 0.31704582 |
| 88 | MAP3K2 | 0.30585317 |
| 89 | ADRBK1 | 0.30446218 |
| 90 | RPS6KA1 | 0.29298494 |
| 91 | LYN | 0.28475436 |
| 92 | ITK | 0.28402062 |
| 93 | CDK1 | 0.26548313 |
| 94 | UHMK1 | 0.26392639 |
| 95 | MAPK7 | 0.25538560 |
| 96 | PRKCB | 0.24566186 |
| 97 | STK16 | 0.24395393 |
| 98 | MAPK14 | 0.23831315 |
| 99 | MAPK1 | 0.23805199 |
| 100 | MYLK | 0.23734204 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.25957534 |
| 2 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 3.60947947 |
| 3 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 3.16422852 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.67809514 |
| 5 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.65094412 |
| 6 | Olfactory transduction_Homo sapiens_hsa04740 | 2.64214090 |
| 7 | Nicotine addiction_Homo sapiens_hsa05033 | 2.61177557 |
| 8 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.35075829 |
| 9 | Phototransduction_Homo sapiens_hsa04744 | 2.32628254 |
| 10 | Tryptophan metabolism_Homo sapiens_hsa00380 | 2.24051575 |
| 11 | Histidine metabolism_Homo sapiens_hsa00340 | 2.07636710 |
| 12 | Cocaine addiction_Homo sapiens_hsa05030 | 1.95427596 |
| 13 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.75402309 |
| 14 | Morphine addiction_Homo sapiens_hsa05032 | 1.71875847 |
| 15 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.71730395 |
| 16 | Taste transduction_Homo sapiens_hsa04742 | 1.70422782 |
| 17 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.61505533 |
| 18 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.59886538 |
| 19 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.59834925 |
| 20 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.52825339 |
| 21 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.52474430 |
| 22 | Allograft rejection_Homo sapiens_hsa05330 | 1.46049786 |
| 23 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.41696995 |
| 24 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.31598781 |
| 25 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.30186561 |
| 26 | Basal transcription factors_Homo sapiens_hsa03022 | 1.29176142 |
| 27 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 1.26301712 |
| 28 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.26156556 |
| 29 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.25546195 |
| 30 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.24487016 |
| 31 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.24454370 |
| 32 | Circadian entrainment_Homo sapiens_hsa04713 | 1.24236215 |
| 33 | GABAergic synapse_Homo sapiens_hsa04727 | 1.23933638 |
| 34 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.17931611 |
| 35 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 1.14707420 |
| 36 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.14507236 |
| 37 | Dopaminergic synapse_Homo sapiens_hsa04728 | 1.09767262 |
| 38 | Asthma_Homo sapiens_hsa05310 | 1.09729918 |
| 39 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.08187791 |
| 40 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.00631083 |
| 41 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.98537353 |
| 42 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.94664298 |
| 43 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.92940325 |
| 44 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.91237929 |
| 45 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.90523008 |
| 46 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.89874436 |
| 47 | Renin secretion_Homo sapiens_hsa04924 | 0.89654843 |
| 48 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.87357449 |
| 49 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.87020162 |
| 50 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.85396264 |
| 51 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.84417538 |
| 52 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.82789788 |
| 53 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.81550800 |
| 54 | Long-term depression_Homo sapiens_hsa04730 | 0.80293134 |
| 55 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.77602908 |
| 56 | Huntingtons disease_Homo sapiens_hsa05016 | 0.75900424 |
| 57 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.74986688 |
| 58 | Parkinsons disease_Homo sapiens_hsa05012 | 0.70167019 |
| 59 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.69765794 |
| 60 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.66897547 |
| 61 | RNA transport_Homo sapiens_hsa03013 | 0.64508600 |
| 62 | Gap junction_Homo sapiens_hsa04540 | 0.60199162 |
| 63 | Insulin secretion_Homo sapiens_hsa04911 | 0.59641826 |
| 64 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.58807968 |
| 65 | Salivary secretion_Homo sapiens_hsa04970 | 0.56707054 |
| 66 | Purine metabolism_Homo sapiens_hsa00230 | 0.56195894 |
| 67 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.56045875 |
| 68 | Alcoholism_Homo sapiens_hsa05034 | 0.55648864 |
| 69 | ABC transporters_Homo sapiens_hsa02010 | 0.55065541 |
| 70 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.54249324 |
| 71 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.54142001 |
| 72 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.54035412 |
| 73 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.53394536 |
| 74 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.52351802 |
| 75 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.49546852 |
| 76 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.49092882 |
| 77 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.46536334 |
| 78 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 0.43930030 |
| 79 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.42197666 |
| 80 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.41385349 |
| 81 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.40964891 |
| 82 | Lysine degradation_Homo sapiens_hsa00310 | 0.40551679 |
| 83 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.39491652 |
| 84 | Retinol metabolism_Homo sapiens_hsa00830 | 0.39333125 |
| 85 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.37852572 |
| 86 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.34167731 |
| 87 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.33839136 |
| 88 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.32994950 |
| 89 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.32315231 |
| 90 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.31642166 |
| 91 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.31018009 |
| 92 | Metabolic pathways_Homo sapiens_hsa01100 | 0.30974099 |
| 93 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.30846882 |
| 94 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 0.29684409 |
| 95 | Long-term potentiation_Homo sapiens_hsa04720 | 0.29145704 |
| 96 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.28594593 |
| 97 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.27980814 |
| 98 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.27491867 |
| 99 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.27137511 |
| 100 | Influenza A_Homo sapiens_hsa05164 | 0.25673337 |

