

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm motility (GO:0030317) | 9.31832695 |
| 2 | acrosome reaction (GO:0007340) | 8.84842240 |
| 3 | response to pheromone (GO:0019236) | 8.42590211 |
| 4 | fusion of sperm to egg plasma membrane (GO:0007342) | 7.53416518 |
| 5 | single strand break repair (GO:0000012) | 7.40114795 |
| 6 | spermatid development (GO:0007286) | 6.55702396 |
| 7 | microtubule depolymerization (GO:0007019) | 6.49799207 |
| 8 | spermatid nucleus differentiation (GO:0007289) | 6.30511670 |
| 9 | multicellular organism reproduction (GO:0032504) | 6.18791624 |
| 10 | regulation of cilium movement (GO:0003352) | 6.06698619 |
| 11 | establishment of protein localization to Golgi (GO:0072600) | 6.02277429 |
| 12 | protein targeting to Golgi (GO:0000042) | 5.92751748 |
| 13 | axonemal dynein complex assembly (GO:0070286) | 5.84843930 |
| 14 | cilium or flagellum-dependent cell motility (GO:0001539) | 5.81753861 |
| 15 | plasma membrane fusion (GO:0045026) | 5.78470126 |
| 16 | protein polyglutamylation (GO:0018095) | 5.73788359 |
| 17 | sperm-egg recognition (GO:0035036) | 5.71135533 |
| 18 | sperm capacitation (GO:0048240) | 5.67809887 |
| 19 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.41041284 |
| 20 | centriole replication (GO:0007099) | 5.34106361 |
| 21 | epithelial cilium movement (GO:0003351) | 5.25525749 |
| 22 | reproduction (GO:0000003) | 5.20603998 |
| 23 | DNA packaging (GO:0006323) | 5.18408814 |
| 24 | microtubule polymerization or depolymerization (GO:0031109) | 5.18013050 |
| 25 | chromosome condensation (GO:0030261) | 5.15621047 |
| 26 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 5.12461601 |
| 27 | cell wall macromolecule catabolic process (GO:0016998) | 5.03041233 |
| 28 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 4.94310248 |
| 29 | cellular ketone body metabolic process (GO:0046950) | 4.94118783 |
| 30 | cell-cell recognition (GO:0009988) | 4.82911747 |
| 31 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.78790774 |
| 32 | cell wall macromolecule metabolic process (GO:0044036) | 4.76726003 |
| 33 | rRNA methylation (GO:0031167) | 4.76314544 |
| 34 | calcium ion-dependent exocytosis (GO:0017156) | 4.68205377 |
| 35 | motile cilium assembly (GO:0044458) | 4.59910182 |
| 36 | cilium movement (GO:0003341) | 4.57099551 |
| 37 | protein localization to Golgi apparatus (GO:0034067) | 4.55459518 |
| 38 | binding of sperm to zona pellucida (GO:0007339) | 4.55219045 |
| 39 | spermatogenesis (GO:0007283) | 4.46759691 |
| 40 | male gamete generation (GO:0048232) | 4.45757397 |
| 41 | ketone body metabolic process (GO:1902224) | 4.35459767 |
| 42 | centriole assembly (GO:0098534) | 4.33231541 |
| 43 | RNA destabilization (GO:0050779) | 4.30729207 |
| 44 | single fertilization (GO:0007338) | 4.20740899 |
| 45 | positive regulation of Rab GTPase activity (GO:0032851) | 4.16243121 |
| 46 | regulation of Rab GTPase activity (GO:0032313) | 4.16243121 |
| 47 | gamete generation (GO:0007276) | 4.12099003 |
| 48 | seminiferous tubule development (GO:0072520) | 4.09185761 |
| 49 | regulation of microtubule-based movement (GO:0060632) | 3.90085245 |
| 50 | rRNA modification (GO:0000154) | 3.82840642 |
| 51 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.77167320 |
| 52 | germ cell development (GO:0007281) | 3.72026733 |
| 53 | microtubule severing (GO:0051013) | 3.70121070 |
| 54 | negative regulation of inclusion body assembly (GO:0090084) | 3.63201992 |
| 55 | regulation of centriole replication (GO:0046599) | 3.60531680 |
| 56 | fertilization (GO:0009566) | 3.54986196 |
| 57 | cilium organization (GO:0044782) | 3.52069375 |
| 58 | organic cation transport (GO:0015695) | 3.48031024 |
| 59 | cilium assembly (GO:0042384) | 3.44848462 |
| 60 | coenzyme catabolic process (GO:0009109) | 3.44660259 |
| 61 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.40941578 |
| 62 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.36870549 |
| 63 | axoneme assembly (GO:0035082) | 3.36772339 |
| 64 | sexual reproduction (GO:0019953) | 3.35122757 |
| 65 | fucose catabolic process (GO:0019317) | 3.26470174 |
| 66 | L-fucose metabolic process (GO:0042354) | 3.26470174 |
| 67 | L-fucose catabolic process (GO:0042355) | 3.26470174 |
| 68 | multicellular organismal reproductive process (GO:0048609) | 3.23296136 |
| 69 | DNA methylation involved in gamete generation (GO:0043046) | 3.23070904 |
| 70 | cAMP catabolic process (GO:0006198) | 3.17861067 |
| 71 | negative regulation of translation, ncRNA-mediated (GO:0040033) | 3.12905657 |
| 72 | regulation of translation, ncRNA-mediated (GO:0045974) | 3.12905657 |
| 73 | negative regulation of translation involved in gene silencing by miRNA (GO:0035278) | 3.12905657 |
| 74 | histone mRNA catabolic process (GO:0071044) | 3.10376534 |
| 75 | piRNA metabolic process (GO:0034587) | 3.08877038 |
| 76 | male meiosis (GO:0007140) | 3.08771693 |
| 77 | histone H3-K9 methylation (GO:0051567) | 3.01253092 |
| 78 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.00338813 |
| 79 | male meiosis I (GO:0007141) | 2.99371183 |
| 80 | nucleus organization (GO:0006997) | 2.96958759 |
| 81 | chromatin silencing (GO:0006342) | 2.94597727 |
| 82 | ventricular system development (GO:0021591) | 2.92980422 |
| 83 | multicellular organismal movement (GO:0050879) | 2.92235471 |
| 84 | musculoskeletal movement (GO:0050881) | 2.92235471 |
| 85 | microtubule nucleation (GO:0007020) | 2.90936031 |
| 86 | spinal cord motor neuron differentiation (GO:0021522) | 2.89236433 |
| 87 | Golgi to endosome transport (GO:0006895) | 2.86192750 |
| 88 | cyclic nucleotide catabolic process (GO:0009214) | 2.84542546 |
| 89 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.78948607 |
| 90 | negative regulation of mesenchymal cell apoptotic process (GO:2001054) | 2.78624275 |
| 91 | photoreceptor cell maintenance (GO:0045494) | 2.77981885 |
| 92 | retinal cone cell development (GO:0046549) | 2.74697683 |
| 93 | intra-Golgi vesicle-mediated transport (GO:0006891) | 2.70735622 |
| 94 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.62720592 |
| 95 | histone H3-K9 modification (GO:0061647) | 2.60303301 |
| 96 | positive regulation of action potential (GO:0045760) | 2.60037599 |
| 97 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.59939671 |
| 98 | cell recognition (GO:0008037) | 2.53201245 |
| 99 | NAD biosynthetic process (GO:0009435) | 2.52089831 |
| 100 | positive regulation of guanylate cyclase activity (GO:0031284) | 2.50470736 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ZNF274_21170338_ChIP-Seq_K562_Hela | 3.27753511 |
| 2 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.83782124 |
| 3 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.69743970 |
| 4 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.60139994 |
| 5 | FUS_26573619_Chip-Seq_HEK293_Human | 2.59334694 |
| 6 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.44444125 |
| 7 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.44420138 |
| 8 | VDR_22108803_ChIP-Seq_LS180_Human | 2.42160178 |
| 9 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.36797420 |
| 10 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.36797420 |
| 11 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.35395756 |
| 12 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.34847280 |
| 13 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.34847280 |
| 14 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.29456230 |
| 15 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.21643417 |
| 16 | P300_19829295_ChIP-Seq_ESCs_Human | 2.10320564 |
| 17 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 2.05458740 |
| 18 | IGF1R_20145208_ChIP-Seq_DFB_Human | 2.02949759 |
| 19 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 2.00489395 |
| 20 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.96381981 |
| 21 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.96007034 |
| 22 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.89914315 |
| 23 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.84107990 |
| 24 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.77215710 |
| 25 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.75534133 |
| 26 | AR_25329375_ChIP-Seq_VCAP_Human | 1.71056558 |
| 27 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.67055459 |
| 28 | STAT3_23295773_ChIP-Seq_U87_Human | 1.66848375 |
| 29 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.64762057 |
| 30 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.61711088 |
| 31 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.60179036 |
| 32 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.58029936 |
| 33 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.56110585 |
| 34 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.52500582 |
| 35 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.50188090 |
| 36 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.46464600 |
| 37 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.46399009 |
| 38 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.46014126 |
| 39 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.44482731 |
| 40 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.43933840 |
| 41 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.43915526 |
| 42 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.43915526 |
| 43 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.42367399 |
| 44 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.42250935 |
| 45 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.37067644 |
| 46 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.36239574 |
| 47 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.35930748 |
| 48 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.35748011 |
| 49 | TCF4_23295773_ChIP-Seq_U87_Human | 1.34642438 |
| 50 | ERA_21632823_ChIP-Seq_H3396_Human | 1.33510673 |
| 51 | EWS_26573619_Chip-Seq_HEK293_Human | 1.33467302 |
| 52 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.30360883 |
| 53 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.29106892 |
| 54 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.28170804 |
| 55 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.27719987 |
| 56 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.27605731 |
| 57 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.27439186 |
| 58 | TBL1_22424771_ChIP-Seq_293T_Human | 1.25078001 |
| 59 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.24805377 |
| 60 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.24599480 |
| 61 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.22088172 |
| 62 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.20919707 |
| 63 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.19922265 |
| 64 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.18872341 |
| 65 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.18818929 |
| 66 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.18714362 |
| 67 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.16787901 |
| 68 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.16401104 |
| 69 | NFYB_21822215_ChIP-Seq_K562_Human | 1.15324349 |
| 70 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.14475031 |
| 71 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.14402770 |
| 72 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.13471625 |
| 73 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.13471625 |
| 74 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.13433194 |
| 75 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.12465133 |
| 76 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.12208820 |
| 77 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.11819158 |
| 78 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.11782065 |
| 79 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.11234195 |
| 80 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.11144049 |
| 81 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.10888524 |
| 82 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.10808521 |
| 83 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.10734290 |
| 84 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.10237512 |
| 85 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.09805452 |
| 86 | NCOR_22424771_ChIP-Seq_293T_Human | 1.06912313 |
| 87 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.06487132 |
| 88 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.06134676 |
| 89 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.06098765 |
| 90 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.05582846 |
| 91 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.05567443 |
| 92 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.05222992 |
| 93 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.04812498 |
| 94 | KDM2B_26808549_Chip-Seq_REH_Human | 1.04434983 |
| 95 | NFYA_21822215_ChIP-Seq_K562_Human | 1.04418946 |
| 96 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.03625985 |
| 97 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.03591077 |
| 98 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.03433754 |
| 99 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.03229148 |
| 100 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.03185642 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 8.13560063 |
| 2 | MP0003698_abnormal_male_reproductive | 3.34644096 |
| 3 | MP0003878_abnormal_ear_physiology | 3.08760089 |
| 4 | MP0005377_hearing/vestibular/ear_phenot | 3.08760089 |
| 5 | MP0001929_abnormal_gametogenesis | 3.04179325 |
| 6 | MP0003787_abnormal_imprinting | 2.98047030 |
| 7 | MP0000569_abnormal_digit_pigmentation | 2.82234266 |
| 8 | MP0008877_abnormal_DNA_methylation | 2.80873432 |
| 9 | MP0002735_abnormal_chemical_nociception | 2.12492968 |
| 10 | MP0005253_abnormal_eye_physiology | 2.06638598 |
| 11 | MP0005551_abnormal_eye_electrophysiolog | 1.97706873 |
| 12 | MP0005670_abnormal_white_adipose | 1.97215401 |
| 13 | MP0003718_maternal_effect | 1.96981402 |
| 14 | MP0002234_abnormal_pharynx_morphology | 1.76956534 |
| 15 | MP0001986_abnormal_taste_sensitivity | 1.70848659 |
| 16 | MP0008789_abnormal_olfactory_epithelium | 1.69560203 |
| 17 | MP0002161_abnormal_fertility/fecundity | 1.66849068 |
| 18 | MP0006072_abnormal_retinal_apoptosis | 1.63931771 |
| 19 | MP0008057_abnormal_DNA_replication | 1.61628617 |
| 20 | MP0001486_abnormal_startle_reflex | 1.57816978 |
| 21 | MP0003646_muscle_fatigue | 1.54529759 |
| 22 | MP0001968_abnormal_touch/_nociception | 1.47529430 |
| 23 | MP0001485_abnormal_pinna_reflex | 1.45246677 |
| 24 | MP0002102_abnormal_ear_morphology | 1.44769079 |
| 25 | MP0005499_abnormal_olfactory_system | 1.42292810 |
| 26 | MP0005394_taste/olfaction_phenotype | 1.42292810 |
| 27 | MP0002210_abnormal_sex_determination | 1.41348341 |
| 28 | MP0002132_abnormal_respiratory_system | 1.36667570 |
| 29 | MP0009697_abnormal_copulation | 1.34958889 |
| 30 | MP0003011_delayed_dark_adaptation | 1.31240374 |
| 31 | MP0005379_endocrine/exocrine_gland_phen | 1.28235322 |
| 32 | MP0002837_dystrophic_cardiac_calcinosis | 1.27013621 |
| 33 | MP0003195_calcinosis | 1.26457493 |
| 34 | MP0000516_abnormal_urinary_system | 1.24275754 |
| 35 | MP0005367_renal/urinary_system_phenotyp | 1.24275754 |
| 36 | MP0009046_muscle_twitch | 1.23654388 |
| 37 | MP0000653_abnormal_sex_gland | 1.21349885 |
| 38 | MP0001145_abnormal_male_reproductive | 1.17423893 |
| 39 | MP0006292_abnormal_olfactory_placode | 1.17161914 |
| 40 | MP0004742_abnormal_vestibular_system | 1.15485929 |
| 41 | MP0002009_preneoplasia | 1.12189907 |
| 42 | MP0008058_abnormal_DNA_repair | 1.10918801 |
| 43 | MP0001348_abnormal_lacrimal_gland | 1.07121409 |
| 44 | MP0002653_abnormal_ependyma_morphology | 1.06812787 |
| 45 | MP0002282_abnormal_trachea_morphology | 1.05789979 |
| 46 | MP0005084_abnormal_gallbladder_morpholo | 1.05301836 |
| 47 | MP0002067_abnormal_sensory_capabilities | 1.03868734 |
| 48 | MP0002928_abnormal_bile_duct | 1.02395984 |
| 49 | MP0002822_catalepsy | 1.01222722 |
| 50 | MP0004885_abnormal_endolymph | 1.00188410 |
| 51 | MP0005423_abnormal_somatic_nervous | 0.99208160 |
| 52 | MP0009745_abnormal_behavioral_response | 0.99138493 |
| 53 | MP0002127_abnormal_cardiovascular_syste | 0.98929793 |
| 54 | MP0002229_neurodegeneration | 0.96569927 |
| 55 | MP0001984_abnormal_olfaction | 0.95873606 |
| 56 | MP0003136_yellow_coat_color | 0.95755153 |
| 57 | MP0008995_early_reproductive_senescence | 0.95585844 |
| 58 | MP0001501_abnormal_sleep_pattern | 0.94677311 |
| 59 | MP0001764_abnormal_homeostasis | 0.94630703 |
| 60 | MP0000026_abnormal_inner_ear | 0.94595187 |
| 61 | MP0003121_genomic_imprinting | 0.94101995 |
| 62 | MP0005391_vision/eye_phenotype | 0.93668667 |
| 63 | MP0005386_behavior/neurological_phenoty | 0.93661972 |
| 64 | MP0004924_abnormal_behavior | 0.93661972 |
| 65 | MP0000955_abnormal_spinal_cord | 0.93215991 |
| 66 | MP0005248_abnormal_Harderian_gland | 0.92721210 |
| 67 | MP0004484_altered_response_of | 0.91915583 |
| 68 | MP0001963_abnormal_hearing_physiology | 0.89313794 |
| 69 | MP0005645_abnormal_hypothalamus_physiol | 0.88033362 |
| 70 | MP0000631_abnormal_neuroendocrine_gland | 0.87573206 |
| 71 | MP0003880_abnormal_central_pattern | 0.86125552 |
| 72 | MP0002272_abnormal_nervous_system | 0.85792877 |
| 73 | MP0002557_abnormal_social/conspecific_i | 0.85362175 |
| 74 | MP0005646_abnormal_pituitary_gland | 0.85212355 |
| 75 | MP0005195_abnormal_posterior_eye | 0.82785537 |
| 76 | MP0005395_other_phenotype | 0.82526002 |
| 77 | MP0005451_abnormal_body_composition | 0.82202843 |
| 78 | MP0004133_heterotaxia | 0.81564320 |
| 79 | MP0000372_irregular_coat_pigmentation | 0.80452990 |
| 80 | MP0004142_abnormal_muscle_tone | 0.79092510 |
| 81 | MP0001529_abnormal_vocalization | 0.78529351 |
| 82 | MP0002572_abnormal_emotion/affect_behav | 0.76005552 |
| 83 | MP0005167_abnormal_blood-brain_barrier | 0.75760423 |
| 84 | MP0005310_abnormal_salivary_gland | 0.75218212 |
| 85 | MP0009053_abnormal_anal_canal | 0.74669106 |
| 86 | MP0001905_abnormal_dopamine_level | 0.74240797 |
| 87 | MP0000427_abnormal_hair_cycle | 0.74061863 |
| 88 | MP0009764_decreased_sensitivity_to | 0.72058815 |
| 89 | MP0000049_abnormal_middle_ear | 0.71754760 |
| 90 | MP0005083_abnormal_biliary_tract | 0.71661641 |
| 91 | MP0003119_abnormal_digestive_system | 0.68887284 |
| 92 | MP0004085_abnormal_heartbeat | 0.68068973 |
| 93 | MP0009115_abnormal_fat_cell | 0.67898622 |
| 94 | MP0004084_abnormal_cardiac_muscle | 0.66362160 |
| 95 | MP0000015_abnormal_ear_pigmentation | 0.66180635 |
| 96 | MP0000678_abnormal_parathyroid_gland | 0.66131731 |
| 97 | MP0001324_abnormal_eye_pigmentation | 0.65930210 |
| 98 | MP0008961_abnormal_basal_metabolism | 0.65878584 |
| 99 | MP0008775_abnormal_heart_ventricle | 0.65859785 |
| 100 | MP0001765_abnormal_ion_homeostasis | 0.64933011 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.33372387 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.33372387 |
| 3 | Chronic hepatic failure (HP:0100626) | 5.08053664 |
| 4 | Severe visual impairment (HP:0001141) | 4.71756559 |
| 5 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.40966117 |
| 6 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.40966117 |
| 7 | Abnormal ciliary motility (HP:0012262) | 4.35039717 |
| 8 | Attenuation of retinal blood vessels (HP:0007843) | 4.20820680 |
| 9 | Nephronophthisis (HP:0000090) | 4.06742258 |
| 10 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.99473299 |
| 11 | Pancreatic fibrosis (HP:0100732) | 3.99464307 |
| 12 | Tubulointerstitial nephritis (HP:0001970) | 3.89692789 |
| 13 | Pancreatic cysts (HP:0001737) | 3.86252897 |
| 14 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.58269183 |
| 15 | Abnormality of the renal medulla (HP:0100957) | 3.55727444 |
| 16 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.53181830 |
| 17 | True hermaphroditism (HP:0010459) | 3.45218697 |
| 18 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.32566483 |
| 19 | Molar tooth sign on MRI (HP:0002419) | 2.98739170 |
| 20 | Abnormality of midbrain morphology (HP:0002418) | 2.98739170 |
| 21 | Abnormality of macular pigmentation (HP:0008002) | 2.94127055 |
| 22 | Hypoplastic ischia (HP:0003175) | 2.88971538 |
| 23 | Abnormal drinking behavior (HP:0030082) | 2.83015486 |
| 24 | Polydipsia (HP:0001959) | 2.83015486 |
| 25 | Progressive cerebellar ataxia (HP:0002073) | 2.77527319 |
| 26 | Bell-shaped thorax (HP:0001591) | 2.77356549 |
| 27 | Occipital encephalocele (HP:0002085) | 2.62331456 |
| 28 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.60879157 |
| 29 | Rhinitis (HP:0012384) | 2.59293443 |
| 30 | Hyperkalemia (HP:0002153) | 2.57863986 |
| 31 | Abnormality of the renal cortex (HP:0011035) | 2.56076820 |
| 32 | Type II lissencephaly (HP:0007260) | 2.52776677 |
| 33 | Abnormality of the ischium (HP:0003174) | 2.52628317 |
| 34 | Infertility (HP:0000789) | 2.46537584 |
| 35 | Cystic liver disease (HP:0006706) | 2.45077630 |
| 36 | Congenital hepatic fibrosis (HP:0002612) | 2.43433256 |
| 37 | Medial flaring of the eyebrow (HP:0010747) | 2.41571142 |
| 38 | Polyuria (HP:0000103) | 2.40642066 |
| 39 | Tubular atrophy (HP:0000092) | 2.36118228 |
| 40 | Anencephaly (HP:0002323) | 2.33307961 |
| 41 | Truncal obesity (HP:0001956) | 2.29113146 |
| 42 | Inability to walk (HP:0002540) | 2.28426943 |
| 43 | Abnormal urine output (HP:0012590) | 2.28024175 |
| 44 | Bulbous nose (HP:0000414) | 2.25659239 |
| 45 | Cone-rod dystrophy (HP:0000548) | 2.24431702 |
| 46 | Congenital stationary night blindness (HP:0007642) | 2.24104999 |
| 47 | Cerebellar dysplasia (HP:0007033) | 2.23662085 |
| 48 | Tubulointerstitial abnormality (HP:0001969) | 2.20277102 |
| 49 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.18615565 |
| 50 | Postaxial foot polydactyly (HP:0001830) | 2.18583926 |
| 51 | Hypoalphalipoproteinemia (HP:0003233) | 2.16604153 |
| 52 | Febrile seizures (HP:0002373) | 2.16255314 |
| 53 | Impulsivity (HP:0100710) | 2.14255757 |
| 54 | Azoospermia (HP:0000027) | 2.12758076 |
| 55 | Pendular nystagmus (HP:0012043) | 2.12148287 |
| 56 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.11777771 |
| 57 | Optic nerve hypoplasia (HP:0000609) | 2.10410561 |
| 58 | Decreased central vision (HP:0007663) | 2.06316102 |
| 59 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 2.05743605 |
| 60 | Sclerocornea (HP:0000647) | 2.04115097 |
| 61 | Gait imbalance (HP:0002141) | 2.04027760 |
| 62 | Resting tremor (HP:0002322) | 2.02586157 |
| 63 | Hyperventilation (HP:0002883) | 2.01796193 |
| 64 | Bile duct proliferation (HP:0001408) | 2.01162229 |
| 65 | Abnormal biliary tract physiology (HP:0012439) | 2.01162229 |
| 66 | Stage 5 chronic kidney disease (HP:0003774) | 2.00644282 |
| 67 | Asymmetric septal hypertrophy (HP:0001670) | 2.00592701 |
| 68 | Amelogenesis imperfecta (HP:0000705) | 2.00450136 |
| 69 | Atonic seizures (HP:0010819) | 2.00102905 |
| 70 | Abnormal spermatogenesis (HP:0008669) | 1.99168611 |
| 71 | Congenital primary aphakia (HP:0007707) | 1.97695351 |
| 72 | Enlarged epiphyses (HP:0010580) | 1.95007748 |
| 73 | Postural instability (HP:0002172) | 1.94023051 |
| 74 | Potter facies (HP:0002009) | 1.93753467 |
| 75 | Facial shape deformation (HP:0011334) | 1.93753467 |
| 76 | Poor coordination (HP:0002370) | 1.93343500 |
| 77 | Bronchiectasis (HP:0002110) | 1.89293483 |
| 78 | Renal dysplasia (HP:0000110) | 1.89228936 |
| 79 | Genital tract atresia (HP:0001827) | 1.88052978 |
| 80 | Abnormality of the pubic bones (HP:0003172) | 1.87627411 |
| 81 | Widely spaced teeth (HP:0000687) | 1.84816357 |
| 82 | Abnormality of DNA repair (HP:0003254) | 1.83533504 |
| 83 | Male pseudohermaphroditism (HP:0000037) | 1.81099690 |
| 84 | Absent speech (HP:0001344) | 1.80780762 |
| 85 | Nasal polyposis (HP:0100582) | 1.79891510 |
| 86 | Photophobia (HP:0000613) | 1.79065767 |
| 87 | Type II diabetes mellitus (HP:0005978) | 1.78504054 |
| 88 | Intestinal atresia (HP:0011100) | 1.78003725 |
| 89 | Portal hypertension (HP:0001409) | 1.77929933 |
| 90 | Hypoplastic iliac wings (HP:0002866) | 1.77691256 |
| 91 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 1.77576610 |
| 92 | Abnormality of renal excretion (HP:0011036) | 1.77304612 |
| 93 | Sloping forehead (HP:0000340) | 1.75755839 |
| 94 | Retinal dysplasia (HP:0007973) | 1.75496941 |
| 95 | Nephrogenic diabetes insipidus (HP:0009806) | 1.74413944 |
| 96 | Astigmatism (HP:0000483) | 1.74256488 |
| 97 | Hypochromic microcytic anemia (HP:0004840) | 1.74063648 |
| 98 | Gaze-evoked nystagmus (HP:0000640) | 1.73652196 |
| 99 | Congenital malformation of the right heart (HP:0011723) | 1.73164705 |
| 100 | Double outlet right ventricle (HP:0001719) | 1.73164705 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 4.99584301 |
| 2 | INSRR | 4.55470946 |
| 3 | FRK | 3.92259289 |
| 4 | MAP4K2 | 3.52102428 |
| 5 | BMPR1B | 3.20310661 |
| 6 | ACVR1B | 2.72702910 |
| 7 | PINK1 | 2.68029227 |
| 8 | AKT3 | 2.38028439 |
| 9 | PNCK | 2.14989549 |
| 10 | PLK2 | 2.07118172 |
| 11 | STK38 | 1.98851174 |
| 12 | STK38L | 1.89745127 |
| 13 | MAPK15 | 1.89335493 |
| 14 | BRD4 | 1.84116894 |
| 15 | MAP3K4 | 1.82125095 |
| 16 | TLK1 | 1.77777113 |
| 17 | TAOK3 | 1.76839037 |
| 18 | NTRK2 | 1.70783355 |
| 19 | RIPK1 | 1.67760706 |
| 20 | NUAK1 | 1.61029442 |
| 21 | PTK2B | 1.55900065 |
| 22 | DDR2 | 1.54142366 |
| 23 | TNIK | 1.53624427 |
| 24 | WNK3 | 1.51748191 |
| 25 | ADRBK2 | 1.49966865 |
| 26 | ZAK | 1.44369992 |
| 27 | DYRK3 | 1.36748134 |
| 28 | TESK1 | 1.35302357 |
| 29 | MAPK13 | 1.24119198 |
| 30 | IRAK1 | 1.22360596 |
| 31 | CAMK1G | 1.17399350 |
| 32 | BRSK2 | 1.13615427 |
| 33 | GRK1 | 1.08648367 |
| 34 | TGFBR1 | 1.08017104 |
| 35 | MAP2K7 | 1.01784604 |
| 36 | TIE1 | 0.96091402 |
| 37 | PIK3CG | 0.94715457 |
| 38 | CDK3 | 0.89389614 |
| 39 | CASK | 0.88252516 |
| 40 | NTRK3 | 0.85139590 |
| 41 | LATS1 | 0.84466937 |
| 42 | WNK1 | 0.82479168 |
| 43 | MKNK2 | 0.79028316 |
| 44 | CAMKK2 | 0.76151291 |
| 45 | OXSR1 | 0.75404255 |
| 46 | TRIM28 | 0.73094912 |
| 47 | PRKAA2 | 0.68764583 |
| 48 | MARK3 | 0.67300344 |
| 49 | STK39 | 0.67088566 |
| 50 | WNK4 | 0.67011178 |
| 51 | SGK2 | 0.63372940 |
| 52 | PRKG1 | 0.61089625 |
| 53 | MARK1 | 0.56246004 |
| 54 | PAK3 | 0.53975092 |
| 55 | PDK1 | 0.53594252 |
| 56 | PRKCE | 0.52666247 |
| 57 | CAMK1D | 0.52119942 |
| 58 | DYRK1B | 0.51769925 |
| 59 | BLK | 0.50949793 |
| 60 | TNK2 | 0.50482022 |
| 61 | NEK2 | 0.49849704 |
| 62 | SIK2 | 0.47011272 |
| 63 | FGFR2 | 0.46837908 |
| 64 | VRK1 | 0.46726662 |
| 65 | SGK494 | 0.45771352 |
| 66 | SGK223 | 0.45771352 |
| 67 | TEC | 0.45619680 |
| 68 | PRKCG | 0.45369704 |
| 69 | DAPK2 | 0.43711165 |
| 70 | NEK6 | 0.42377231 |
| 71 | KSR2 | 0.41423596 |
| 72 | PHKG1 | 0.41349952 |
| 73 | PHKG2 | 0.41349952 |
| 74 | MKNK1 | 0.41278513 |
| 75 | PRKAA1 | 0.40312357 |
| 76 | OBSCN | 0.40055422 |
| 77 | FLT3 | 0.39449335 |
| 78 | CDK12 | 0.38889376 |
| 79 | IKBKB | 0.38573726 |
| 80 | MAP3K7 | 0.38347158 |
| 81 | MAP3K2 | 0.38075909 |
| 82 | MUSK | 0.36834329 |
| 83 | MELK | 0.36709302 |
| 84 | KIT | 0.36380805 |
| 85 | JAK3 | 0.36115749 |
| 86 | CSNK1A1L | 0.35441163 |
| 87 | CHUK | 0.35163144 |
| 88 | CAMK4 | 0.33780259 |
| 89 | PRKCQ | 0.32869756 |
| 90 | NLK | 0.31137710 |
| 91 | YES1 | 0.30858742 |
| 92 | PDPK1 | 0.29190353 |
| 93 | CDK7 | 0.28807351 |
| 94 | ADRBK1 | 0.28284417 |
| 95 | EIF2AK3 | 0.27998525 |
| 96 | RPS6KA1 | 0.27533247 |
| 97 | RPS6KA5 | 0.26807323 |
| 98 | SGK1 | 0.25059605 |
| 99 | CAMK2A | 0.24819024 |
| 100 | TXK | 0.24770073 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 5.76016953 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.44255036 |
| 3 | Butanoate metabolism_Homo sapiens_hsa00650 | 3.33581089 |
| 4 | Olfactory transduction_Homo sapiens_hsa04740 | 3.28775065 |
| 5 | Selenocompound metabolism_Homo sapiens_hsa00450 | 2.63562707 |
| 6 | Phototransduction_Homo sapiens_hsa04744 | 2.62927192 |
| 7 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.60555464 |
| 8 | Taste transduction_Homo sapiens_hsa04742 | 2.17258196 |
| 9 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.13028928 |
| 10 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.01480934 |
| 11 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.97464252 |
| 12 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.91422926 |
| 13 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.81191386 |
| 14 | Nicotine addiction_Homo sapiens_hsa05033 | 1.80088197 |
| 15 | ABC transporters_Homo sapiens_hsa02010 | 1.75135097 |
| 16 | Basal transcription factors_Homo sapiens_hsa03022 | 1.66616621 |
| 17 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.64829187 |
| 18 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.56723693 |
| 19 | Circadian rhythm_Homo sapiens_hsa04710 | 1.54560357 |
| 20 | Morphine addiction_Homo sapiens_hsa05032 | 1.51584251 |
| 21 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.46911861 |
| 22 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.44037044 |
| 23 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.39155119 |
| 24 | Homologous recombination_Homo sapiens_hsa03440 | 1.38385092 |
| 25 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.37673452 |
| 26 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.35104420 |
| 27 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.31191136 |
| 28 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.13600288 |
| 29 | Circadian entrainment_Homo sapiens_hsa04713 | 1.04869576 |
| 30 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.04546121 |
| 31 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.00876079 |
| 32 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.97667886 |
| 33 | RNA transport_Homo sapiens_hsa03013 | 0.97269745 |
| 34 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.95415529 |
| 35 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.92957480 |
| 36 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.92743792 |
| 37 | Insulin secretion_Homo sapiens_hsa04911 | 0.92215898 |
| 38 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.91781005 |
| 39 | Salivary secretion_Homo sapiens_hsa04970 | 0.91259988 |
| 40 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.90099696 |
| 41 | GABAergic synapse_Homo sapiens_hsa04727 | 0.87354846 |
| 42 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.87201816 |
| 43 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.87010321 |
| 44 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.86282368 |
| 45 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.83538401 |
| 46 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.83456096 |
| 47 | RNA degradation_Homo sapiens_hsa03018 | 0.83090690 |
| 48 | Peroxisome_Homo sapiens_hsa04146 | 0.82903753 |
| 49 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.82735931 |
| 50 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.76726164 |
| 51 | Purine metabolism_Homo sapiens_hsa00230 | 0.75458430 |
| 52 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.72498798 |
| 53 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.71910682 |
| 54 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.71216600 |
| 55 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.70888027 |
| 56 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.67904293 |
| 57 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.67525270 |
| 58 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.66439999 |
| 59 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.65559168 |
| 60 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.64017117 |
| 61 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.63432558 |
| 62 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.62861428 |
| 63 | Retinol metabolism_Homo sapiens_hsa00830 | 0.62225897 |
| 64 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.61701403 |
| 65 | Renin secretion_Homo sapiens_hsa04924 | 0.55612506 |
| 66 | Lysine degradation_Homo sapiens_hsa00310 | 0.55084221 |
| 67 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.54356905 |
| 68 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.53515587 |
| 69 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.52956158 |
| 70 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.50562020 |
| 71 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.50073201 |
| 72 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.49563498 |
| 73 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.48774158 |
| 74 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.46842980 |
| 75 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.43065397 |
| 76 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.42987972 |
| 77 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.42265537 |
| 78 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.41579323 |
| 79 | Allograft rejection_Homo sapiens_hsa05330 | 0.41528287 |
| 80 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.40193566 |
| 81 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.39217308 |
| 82 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.38426581 |
| 83 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.37639856 |
| 84 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.35462132 |
| 85 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.34192389 |
| 86 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.32776864 |
| 87 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.32301295 |
| 88 | Protein export_Homo sapiens_hsa03060 | 0.32099896 |
| 89 | Huntingtons disease_Homo sapiens_hsa05016 | 0.32021555 |
| 90 | Metabolic pathways_Homo sapiens_hsa01100 | 0.31840801 |
| 91 | RNA polymerase_Homo sapiens_hsa03020 | 0.29783442 |
| 92 | Alcoholism_Homo sapiens_hsa05034 | 0.29472527 |
| 93 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.28838396 |
| 94 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.28606940 |
| 95 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.27369357 |
| 96 | Long-term depression_Homo sapiens_hsa04730 | 0.26595245 |
| 97 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.25992685 |
| 98 | Insulin resistance_Homo sapiens_hsa04931 | 0.25150137 |
| 99 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.24439784 |
| 100 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.21463689 |

