

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | epithelial cilium movement (GO:0003351) | 9.98483036 |
| 2 | axonemal dynein complex assembly (GO:0070286) | 9.77283073 |
| 3 | cilium movement (GO:0003341) | 8.72186371 |
| 4 | acrosome reaction (GO:0007340) | 8.70246372 |
| 5 | fusion of sperm to egg plasma membrane (GO:0007342) | 8.58785090 |
| 6 | motile cilium assembly (GO:0044458) | 8.37775769 |
| 7 | cilium or flagellum-dependent cell motility (GO:0001539) | 7.82283446 |
| 8 | centriole replication (GO:0007099) | 7.07677602 |
| 9 | spermatid development (GO:0007286) | 6.99140379 |
| 10 | sperm capacitation (GO:0048240) | 6.74479037 |
| 11 | plasma membrane fusion (GO:0045026) | 6.51538822 |
| 12 | multicellular organism reproduction (GO:0032504) | 6.50996878 |
| 13 | microtubule depolymerization (GO:0007019) | 6.40046064 |
| 14 | sperm-egg recognition (GO:0035036) | 6.35834194 |
| 15 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 6.28827634 |
| 16 | protein targeting to Golgi (GO:0000042) | 6.17041562 |
| 17 | establishment of protein localization to Golgi (GO:0072600) | 6.08798399 |
| 18 | protein polyglutamylation (GO:0018095) | 5.98100298 |
| 19 | response to pheromone (GO:0019236) | 5.96360822 |
| 20 | centriole assembly (GO:0098534) | 5.89700371 |
| 21 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.87072546 |
| 22 | binding of sperm to zona pellucida (GO:0007339) | 5.53277815 |
| 23 | spermatogenesis (GO:0007283) | 5.52270778 |
| 24 | microtubule polymerization or depolymerization (GO:0031109) | 5.50745949 |
| 25 | male gamete generation (GO:0048232) | 5.50371341 |
| 26 | axoneme assembly (GO:0035082) | 5.44278937 |
| 27 | chromosome condensation (GO:0030261) | 5.40910550 |
| 28 | reproduction (GO:0000003) | 5.35698195 |
| 29 | cell-cell recognition (GO:0009988) | 5.32158750 |
| 30 | regulation of cilium movement (GO:0003352) | 5.25801638 |
| 31 | single strand break repair (GO:0000012) | 5.24337698 |
| 32 | single fertilization (GO:0007338) | 5.20448052 |
| 33 | DNA packaging (GO:0006323) | 5.14076629 |
| 34 | gamete generation (GO:0007276) | 5.04596380 |
| 35 | ventricular system development (GO:0021591) | 4.94712779 |
| 36 | calcium ion-dependent exocytosis (GO:0017156) | 4.88991400 |
| 37 | protein localization to Golgi apparatus (GO:0034067) | 4.82806243 |
| 38 | cellular ketone body metabolic process (GO:0046950) | 4.82435267 |
| 39 | rRNA methylation (GO:0031167) | 4.77594128 |
| 40 | piRNA metabolic process (GO:0034587) | 4.70627809 |
| 41 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.62623362 |
| 42 | seminiferous tubule development (GO:0072520) | 4.59799450 |
| 43 | regulation of meiosis I (GO:0060631) | 4.52714356 |
| 44 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 4.47924508 |
| 45 | fertilization (GO:0009566) | 4.43240742 |
| 46 | spermatid nucleus differentiation (GO:0007289) | 4.33032142 |
| 47 | positive regulation of Rab GTPase activity (GO:0032851) | 4.31802962 |
| 48 | regulation of Rab GTPase activity (GO:0032313) | 4.31802962 |
| 49 | RNA destabilization (GO:0050779) | 4.26708606 |
| 50 | ketone body metabolic process (GO:1902224) | 4.21747472 |
| 51 | regulation of centriole replication (GO:0046599) | 4.20920523 |
| 52 | rRNA modification (GO:0000154) | 4.20912056 |
| 53 | glomerular visceral epithelial cell development (GO:0072015) | 4.13690954 |
| 54 | glycerol ether metabolic process (GO:0006662) | 4.03038460 |
| 55 | multicellular organismal reproductive process (GO:0048609) | 3.99289884 |
| 56 | cilium organization (GO:0044782) | 3.96961124 |
| 57 | DNA methylation involved in gamete generation (GO:0043046) | 3.90733669 |
| 58 | cilium assembly (GO:0042384) | 3.86045420 |
| 59 | glomerular epithelial cell development (GO:0072310) | 3.85071207 |
| 60 | germ cell development (GO:0007281) | 3.84782464 |
| 61 | ether metabolic process (GO:0018904) | 3.70722761 |
| 62 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.64275632 |
| 63 | cell wall macromolecule catabolic process (GO:0016998) | 3.63078329 |
| 64 | cell wall macromolecule metabolic process (GO:0044036) | 3.56490776 |
| 65 | microtubule severing (GO:0051013) | 3.53060689 |
| 66 | negative regulation of inclusion body assembly (GO:0090084) | 3.50697597 |
| 67 | male meiosis (GO:0007140) | 3.46358219 |
| 68 | left/right axis specification (GO:0070986) | 3.43014645 |
| 69 | regulation of microtubule-based movement (GO:0060632) | 3.37882874 |
| 70 | organic cation transport (GO:0015695) | 3.37394300 |
| 71 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 3.36128317 |
| 72 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.28244796 |
| 73 | cilium morphogenesis (GO:0060271) | 3.24187869 |
| 74 | opioid receptor signaling pathway (GO:0038003) | 3.23223750 |
| 75 | regulation of acrosome reaction (GO:0060046) | 3.16344913 |
| 76 | coenzyme catabolic process (GO:0009109) | 3.13769142 |
| 77 | cellular component assembly involved in morphogenesis (GO:0010927) | 3.07244130 |
| 78 | sexual reproduction (GO:0019953) | 3.04896207 |
| 79 | microtubule nucleation (GO:0007020) | 2.93342541 |
| 80 | male meiosis I (GO:0007141) | 2.92610305 |
| 81 | multicellular organismal movement (GO:0050879) | 2.88846640 |
| 82 | musculoskeletal movement (GO:0050881) | 2.88846640 |
| 83 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.88411741 |
| 84 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.88125037 |
| 85 | nucleoside diphosphate phosphorylation (GO:0006165) | 2.86568971 |
| 86 | left/right pattern formation (GO:0060972) | 2.86266095 |
| 87 | chromatin silencing (GO:0006342) | 2.84702875 |
| 88 | nucleus organization (GO:0006997) | 2.81616937 |
| 89 | microtubule-based movement (GO:0007018) | 2.81115574 |
| 90 | L-fucose catabolic process (GO:0042355) | 2.77198826 |
| 91 | fucose catabolic process (GO:0019317) | 2.77198826 |
| 92 | L-fucose metabolic process (GO:0042354) | 2.77198826 |
| 93 | meiotic cell cycle (GO:0051321) | 2.73574300 |
| 94 | photoreceptor cell maintenance (GO:0045494) | 2.73404562 |
| 95 | microtubule bundle formation (GO:0001578) | 2.63828222 |
| 96 | detection of light stimulus involved in visual perception (GO:0050908) | 2.51443086 |
| 97 | detection of light stimulus involved in sensory perception (GO:0050962) | 2.51443086 |
| 98 | positive regulation of meiosis (GO:0045836) | 2.47522350 |
| 99 | membrane depolarization during action potential (GO:0086010) | 2.47299949 |
| 100 | sperm motility (GO:0030317) | 10.3004015 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.98364085 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.56910771 |
| 3 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.27943284 |
| 4 | VDR_22108803_ChIP-Seq_LS180_Human | 2.71781652 |
| 5 | FUS_26573619_Chip-Seq_HEK293_Human | 2.51104839 |
| 6 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.51056475 |
| 7 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.51056475 |
| 8 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.44152944 |
| 9 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.42356627 |
| 10 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.40977456 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.40977456 |
| 12 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.29062747 |
| 13 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.21792951 |
| 14 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.16228580 |
| 15 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.14147747 |
| 16 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.12931811 |
| 17 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.03388002 |
| 18 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.94228656 |
| 19 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.92419031 |
| 20 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.79095458 |
| 21 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.71805712 |
| 22 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.68057662 |
| 23 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.65940972 |
| 24 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.65794542 |
| 25 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.65241355 |
| 26 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.64636249 |
| 27 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.63092938 |
| 28 | ERA_21632823_ChIP-Seq_H3396_Human | 1.62088750 |
| 29 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.61316763 |
| 30 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.60473437 |
| 31 | P300_19829295_ChIP-Seq_ESCs_Human | 1.59447155 |
| 32 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.56088185 |
| 33 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 1.51064466 |
| 34 | STAT3_23295773_ChIP-Seq_U87_Human | 1.49471754 |
| 35 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.48800121 |
| 36 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.48658425 |
| 37 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.46743627 |
| 38 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.46695973 |
| 39 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.43939592 |
| 40 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.42019597 |
| 41 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.40466973 |
| 42 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.39502911 |
| 43 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.39120277 |
| 44 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.39120277 |
| 45 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.37698104 |
| 46 | STAT1_20625510_ChIP-Seq_HELA_Human | 1.33816770 |
| 47 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.33687971 |
| 48 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.33383710 |
| 49 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.32788395 |
| 50 | AR_25329375_ChIP-Seq_VCAP_Human | 1.32725105 |
| 51 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.30902023 |
| 52 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.30624100 |
| 53 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.30250636 |
| 54 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.30083571 |
| 55 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.29826920 |
| 56 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.28355569 |
| 57 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.28332158 |
| 58 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.27953325 |
| 59 | TBL1_22424771_ChIP-Seq_293T_Human | 1.26726369 |
| 60 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.26037368 |
| 61 | NFYB_21822215_ChIP-Seq_K562_Human | 1.25215296 |
| 62 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.24810154 |
| 63 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.24418444 |
| 64 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.24078846 |
| 65 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.23906278 |
| 66 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.23823554 |
| 67 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.22825652 |
| 68 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.22112161 |
| 69 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.21971707 |
| 70 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.21301997 |
| 71 | NCOR_22424771_ChIP-Seq_293T_Human | 1.20782637 |
| 72 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.20080322 |
| 73 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.20035956 |
| 74 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 1.19087951 |
| 75 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.18158893 |
| 76 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.17740652 |
| 77 | TCF4_23295773_ChIP-Seq_U87_Human | 1.16879612 |
| 78 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.16810676 |
| 79 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.16736517 |
| 80 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.16449625 |
| 81 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.16385246 |
| 82 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.15837842 |
| 83 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.15419225 |
| 84 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.15323739 |
| 85 | P300_27268052_Chip-Seq_Bcells_Human | 1.14006838 |
| 86 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.12810455 |
| 87 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.12020045 |
| 88 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.12020045 |
| 89 | RXR_22108803_ChIP-Seq_LS180_Human | 1.12011894 |
| 90 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.09108296 |
| 91 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.08975268 |
| 92 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.08955935 |
| 93 | NFYA_21822215_ChIP-Seq_K562_Human | 1.08190459 |
| 94 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.07976593 |
| 95 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.07782044 |
| 96 | CDX2_22108803_ChIP-Seq_LS180_Human | 1.06683647 |
| 97 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.06391526 |
| 98 | GATA3_26560356_Chip-Seq_TH1_Human | 1.06371617 |
| 99 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.06210638 |
| 100 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.05316913 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 9.10745230 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 5.05334398 |
| 3 | MP0003878_abnormal_ear_physiology | 5.05334398 |
| 4 | MP0003698_abnormal_male_reproductive | 3.87044022 |
| 5 | MP0001929_abnormal_gametogenesis | 3.31678374 |
| 6 | MP0003879_abnormal_hair_cell | 2.90711424 |
| 7 | MP0000566_synostosis | 2.40091597 |
| 8 | MP0005670_abnormal_white_adipose | 2.35608821 |
| 9 | MP0005551_abnormal_eye_electrophysiolog | 2.19497409 |
| 10 | MP0003718_maternal_effect | 1.98218133 |
| 11 | MP0001968_abnormal_touch/_nociception | 1.96599750 |
| 12 | MP0001485_abnormal_pinna_reflex | 1.93551176 |
| 13 | MP0001984_abnormal_olfaction | 1.92545503 |
| 14 | MP0002161_abnormal_fertility/fecundity | 1.91543133 |
| 15 | MP0001486_abnormal_startle_reflex | 1.88616450 |
| 16 | MP0008995_early_reproductive_senescence | 1.82020964 |
| 17 | MP0001348_abnormal_lacrimal_gland | 1.79833752 |
| 18 | MP0002210_abnormal_sex_determination | 1.74216969 |
| 19 | MP0005360_urolithiasis | 1.73370269 |
| 20 | MP0001765_abnormal_ion_homeostasis | 1.69285237 |
| 21 | MP0002876_abnormal_thyroid_physiology | 1.67395327 |
| 22 | MP0003646_muscle_fatigue | 1.62965155 |
| 23 | MP0003806_abnormal_nucleotide_metabolis | 1.58671968 |
| 24 | MP0001145_abnormal_male_reproductive | 1.47858366 |
| 25 | MP0000678_abnormal_parathyroid_gland | 1.47300748 |
| 26 | MP0000653_abnormal_sex_gland | 1.44114296 |
| 27 | MP0002132_abnormal_respiratory_system | 1.43024255 |
| 28 | MP0004742_abnormal_vestibular_system | 1.40459613 |
| 29 | MP0008007_abnormal_cellular_replicative | 1.33926589 |
| 30 | MP0005253_abnormal_eye_physiology | 1.32642731 |
| 31 | MP0001963_abnormal_hearing_physiology | 1.31041840 |
| 32 | MP0002822_catalepsy | 1.29740600 |
| 33 | MP0002282_abnormal_trachea_morphology | 1.23676198 |
| 34 | MP0002138_abnormal_hepatobiliary_system | 1.21828965 |
| 35 | MP0000230_abnormal_systemic_arterial | 1.13852415 |
| 36 | MP0006072_abnormal_retinal_apoptosis | 1.13187925 |
| 37 | MP0009278_abnormal_bone_marrow | 1.13179063 |
| 38 | MP0005310_abnormal_salivary_gland | 1.12833047 |
| 39 | MP0000026_abnormal_inner_ear | 1.12675078 |
| 40 | MP0009046_muscle_twitch | 1.12365331 |
| 41 | MP0002229_neurodegeneration | 1.12167914 |
| 42 | MP0009745_abnormal_behavioral_response | 1.08488562 |
| 43 | MP0002249_abnormal_larynx_morphology | 1.07892188 |
| 44 | MP0001501_abnormal_sleep_pattern | 1.06639392 |
| 45 | MP0005408_hypopigmentation | 1.05904068 |
| 46 | MP0010386_abnormal_urinary_bladder | 1.05900767 |
| 47 | MP0002272_abnormal_nervous_system | 1.02526932 |
| 48 | MP0003136_yellow_coat_color | 1.00505232 |
| 49 | MP0008775_abnormal_heart_ventricle | 0.94946458 |
| 50 | MP0004085_abnormal_heartbeat | 0.92423632 |
| 51 | MP0000681_abnormal_thyroid_gland | 0.91256304 |
| 52 | MP0004043_abnormal_pH_regulation | 0.90084665 |
| 53 | MP0002160_abnormal_reproductive_system | 0.89036890 |
| 54 | MP0004019_abnormal_vitamin_homeostasis | 0.88337883 |
| 55 | MP0005332_abnormal_amino_acid | 0.85769463 |
| 56 | MP0001545_abnormal_hematopoietic_system | 0.85242220 |
| 57 | MP0005397_hematopoietic_system_phenotyp | 0.85242220 |
| 58 | MP0001835_abnormal_antigen_presentation | 0.85078164 |
| 59 | MP0006276_abnormal_autonomic_nervous | 0.84879768 |
| 60 | MP0001664_abnormal_digestion | 0.84175921 |
| 61 | MP0002234_abnormal_pharynx_morphology | 0.82164147 |
| 62 | MP0005645_abnormal_hypothalamus_physiol | 0.81602408 |
| 63 | MP0002735_abnormal_chemical_nociception | 0.79383524 |
| 64 | MP0001970_abnormal_pain_threshold | 0.76812348 |
| 65 | MP0005395_other_phenotype | 0.76610232 |
| 66 | MP0003011_delayed_dark_adaptation | 0.75931731 |
| 67 | MP0002572_abnormal_emotion/affect_behav | 0.74202658 |
| 68 | MP0000538_abnormal_urinary_bladder | 0.73876957 |
| 69 | MP0008004_abnormal_stomach_pH | 0.71586570 |
| 70 | MP0000579_abnormal_nail_morphology | 0.71498305 |
| 71 | MP0002733_abnormal_thermal_nociception | 0.70678411 |
| 72 | MP0002067_abnormal_sensory_capabilities | 0.70654637 |
| 73 | MP0005636_abnormal_mineral_homeostasis | 0.69930095 |
| 74 | MP0005535_abnormal_body_temperature | 0.69118309 |
| 75 | MP0009764_decreased_sensitivity_to | 0.69075823 |
| 76 | MP0003045_fibrosis | 0.69067296 |
| 77 | MP0010329_abnormal_lipoprotein_level | 0.68954202 |
| 78 | MP0002653_abnormal_ependyma_morphology | 0.68945740 |
| 79 | MP0008789_abnormal_olfactory_epithelium | 0.68931527 |
| 80 | MP0004084_abnormal_cardiac_muscle | 0.68471099 |
| 81 | MP0005451_abnormal_body_composition | 0.66536014 |
| 82 | MP0003315_abnormal_perineum_morphology | 0.64520102 |
| 83 | MP0003786_premature_aging | 0.64432135 |
| 84 | MP0005167_abnormal_blood-brain_barrier | 0.62844087 |
| 85 | MP0005394_taste/olfaction_phenotype | 0.62150112 |
| 86 | MP0005499_abnormal_olfactory_system | 0.62150112 |
| 87 | MP0005646_abnormal_pituitary_gland | 0.61688777 |
| 88 | MP0002928_abnormal_bile_duct | 0.60830190 |
| 89 | MP0009765_abnormal_xenobiotic_induced | 0.60742085 |
| 90 | MP0005389_reproductive_system_phenotype | 0.59325466 |
| 91 | MP0005266_abnormal_metabolism | 0.58814285 |
| 92 | MP0005595_abnormal_vascular_smooth | 0.57812143 |
| 93 | MP0001905_abnormal_dopamine_level | 0.56759917 |
| 94 | MP0002736_abnormal_nociception_after | 0.56754956 |
| 95 | MP0008872_abnormal_physiological_respon | 0.56734146 |
| 96 | MP0005423_abnormal_somatic_nervous | 0.56571991 |
| 97 | MP0000465_gastrointestinal_hemorrhage | 0.55352542 |
| 98 | MP0008058_abnormal_DNA_repair | 0.54858586 |
| 99 | MP0002136_abnormal_kidney_physiology | 0.54200318 |
| 100 | MP0005464_abnormal_platelet_physiology | 0.53962323 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 9.27113638 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 9.27113638 |
| 3 | Abnormal ciliary motility (HP:0012262) | 8.08148909 |
| 4 | Abnormal respiratory motile cilium physiology (HP:0012261) | 7.26626648 |
| 5 | Abnormal respiratory epithelium morphology (HP:0012253) | 7.01511428 |
| 6 | Abnormal respiratory motile cilium morphology (HP:0005938) | 7.01511428 |
| 7 | Chronic hepatic failure (HP:0100626) | 5.80806869 |
| 8 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 5.22429321 |
| 9 | Tubulointerstitial nephritis (HP:0001970) | 4.52657708 |
| 10 | Nasal polyposis (HP:0100582) | 4.36324173 |
| 11 | Severe visual impairment (HP:0001141) | 4.24820047 |
| 12 | Rhinitis (HP:0012384) | 4.02376066 |
| 13 | Pancreatic fibrosis (HP:0100732) | 3.94920295 |
| 14 | Pancreatic cysts (HP:0001737) | 3.87672177 |
| 15 | Nephronophthisis (HP:0000090) | 3.86204453 |
| 16 | Attenuation of retinal blood vessels (HP:0007843) | 3.71369600 |
| 17 | True hermaphroditism (HP:0010459) | 3.70637584 |
| 18 | Infertility (HP:0000789) | 3.69720915 |
| 19 | Cystic liver disease (HP:0006706) | 3.68010586 |
| 20 | Occipital encephalocele (HP:0002085) | 3.65544319 |
| 21 | Abnormality of the nasal mucosa (HP:0000433) | 3.50891446 |
| 22 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.41694987 |
| 23 | Abnormality of macular pigmentation (HP:0008002) | 3.25194337 |
| 24 | Abnormal drinking behavior (HP:0030082) | 3.22291946 |
| 25 | Polydipsia (HP:0001959) | 3.22291946 |
| 26 | Bronchiectasis (HP:0002110) | 3.21832707 |
| 27 | Male infertility (HP:0003251) | 3.10636115 |
| 28 | Abnormality of the renal medulla (HP:0100957) | 3.09214646 |
| 29 | Abnormality of midbrain morphology (HP:0002418) | 3.02738984 |
| 30 | Molar tooth sign on MRI (HP:0002419) | 3.02738984 |
| 31 | Cone-rod dystrophy (HP:0000548) | 2.98146455 |
| 32 | Asymmetric septal hypertrophy (HP:0001670) | 2.83202530 |
| 33 | Tubular atrophy (HP:0000092) | 2.78152959 |
| 34 | Chronic bronchitis (HP:0004469) | 2.71878773 |
| 35 | Chronic sinusitis (HP:0011109) | 2.62218066 |
| 36 | Bell-shaped thorax (HP:0001591) | 2.59548253 |
| 37 | Hyperkalemia (HP:0002153) | 2.58260591 |
| 38 | Tubulointerstitial abnormality (HP:0001969) | 2.55208353 |
| 39 | Anencephaly (HP:0002323) | 2.47392587 |
| 40 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 2.43960285 |
| 41 | Abnormality of dental color (HP:0011073) | 2.41940031 |
| 42 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.40471141 |
| 43 | Polyuria (HP:0000103) | 2.37201890 |
| 44 | Congenital hepatic fibrosis (HP:0002612) | 2.36821955 |
| 45 | Medial flaring of the eyebrow (HP:0010747) | 2.33522496 |
| 46 | Sclerocornea (HP:0000647) | 2.30634120 |
| 47 | Stage 5 chronic kidney disease (HP:0003774) | 2.30083293 |
| 48 | Abnormal urine output (HP:0012590) | 2.28312614 |
| 49 | Congenital stationary night blindness (HP:0007642) | 2.21722140 |
| 50 | Male pseudohermaphroditism (HP:0000037) | 2.20145390 |
| 51 | Bile duct proliferation (HP:0001408) | 2.20063600 |
| 52 | Abnormal biliary tract physiology (HP:0012439) | 2.20063600 |
| 53 | Atonic seizures (HP:0010819) | 2.19234463 |
| 54 | Hypoplasia of the thymus (HP:0000778) | 2.17043641 |
| 55 | Abdominal situs inversus (HP:0003363) | 2.16935407 |
| 56 | Abnormality of abdominal situs (HP:0011620) | 2.16935407 |
| 57 | Thyroid-stimulating hormone excess (HP:0002925) | 2.13976786 |
| 58 | Portal hypertension (HP:0001409) | 2.12678707 |
| 59 | Congenital sensorineural hearing impairment (HP:0008527) | 2.11494366 |
| 60 | Supernumerary spleens (HP:0009799) | 2.10287061 |
| 61 | Chronic otitis media (HP:0000389) | 2.08391966 |
| 62 | Intellectual disability, moderate (HP:0002342) | 2.08300135 |
| 63 | Abolished electroretinogram (ERG) (HP:0000550) | 2.04876002 |
| 64 | Amelogenesis imperfecta (HP:0000705) | 2.04057257 |
| 65 | Progressive cerebellar ataxia (HP:0002073) | 2.03566492 |
| 66 | Recurrent sinusitis (HP:0011108) | 2.03249048 |
| 67 | Enlarged epiphyses (HP:0010580) | 2.02458048 |
| 68 | Abnormality of the renal cortex (HP:0011035) | 2.00013187 |
| 69 | Abnormality of the hepatic vasculature (HP:0006707) | 1.95318895 |
| 70 | Cerebellar dysplasia (HP:0007033) | 1.95146170 |
| 71 | Abnormality of dentin (HP:0010299) | 1.93376717 |
| 72 | Abnormality of renal excretion (HP:0011036) | 1.90919039 |
| 73 | Hypophosphatemic rickets (HP:0004912) | 1.87461141 |
| 74 | Facial shape deformation (HP:0011334) | 1.83482016 |
| 75 | Potter facies (HP:0002009) | 1.83482016 |
| 76 | Postaxial foot polydactyly (HP:0001830) | 1.80504895 |
| 77 | Hypergonadotropic hypogonadism (HP:0000815) | 1.79296203 |
| 78 | Hypoplasia of the uterus (HP:0000013) | 1.79099380 |
| 79 | Pendular nystagmus (HP:0012043) | 1.77810052 |
| 80 | Decreased central vision (HP:0007663) | 1.76731705 |
| 81 | Congenital primary aphakia (HP:0007707) | 1.76168089 |
| 82 | Gait imbalance (HP:0002141) | 1.75301383 |
| 83 | Abnormal spermatogenesis (HP:0008669) | 1.73898491 |
| 84 | Hypoplastic ischia (HP:0003175) | 1.72641907 |
| 85 | Poor coordination (HP:0002370) | 1.72057707 |
| 86 | Abnormality of the aortic arch (HP:0012303) | 1.71107442 |
| 87 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 1.69890638 |
| 88 | Oculomotor apraxia (HP:0000657) | 1.68821720 |
| 89 | Type II lissencephaly (HP:0007260) | 1.65319670 |
| 90 | Short nail (HP:0001799) | 1.64936998 |
| 91 | Furrowed tongue (HP:0000221) | 1.63501426 |
| 92 | Azoospermia (HP:0000027) | 1.59440054 |
| 93 | Decreased circulating renin level (HP:0003351) | 1.59298115 |
| 94 | Renal Fanconi syndrome (HP:0001994) | 1.58782281 |
| 95 | Generalized aminoaciduria (HP:0002909) | 1.58698965 |
| 96 | Keratoconus (HP:0000563) | 1.58220822 |
| 97 | Increased corneal curvature (HP:0100692) | 1.58220822 |
| 98 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 1.57710342 |
| 99 | Macular degeneration (HP:0000608) | 1.57632151 |
| 100 | Retinitis pigmentosa (HP:0000510) | 1.56637513 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 6.31978739 |
| 2 | INSRR | 4.56592211 |
| 3 | MAP4K2 | 3.81883109 |
| 4 | PLK2 | 3.42927693 |
| 5 | WNK4 | 3.26699604 |
| 6 | BRD4 | 3.05061182 |
| 7 | ACVR1B | 2.69775653 |
| 8 | PINK1 | 2.67268898 |
| 9 | FRK | 2.43281649 |
| 10 | BMPR1B | 2.42342146 |
| 11 | PIK3CG | 2.36874711 |
| 12 | MST1R | 2.27645742 |
| 13 | DDR2 | 2.14155291 |
| 14 | ADRBK2 | 2.09211416 |
| 15 | PTK2B | 2.07981925 |
| 16 | ZAK | 1.97145370 |
| 17 | TLK1 | 1.87812247 |
| 18 | STK38L | 1.87254935 |
| 19 | MAPK15 | 1.87252788 |
| 20 | PNCK | 1.78206171 |
| 21 | KIT | 1.70703541 |
| 22 | CCNB1 | 1.67731634 |
| 23 | FLT3 | 1.66983541 |
| 24 | WNK1 | 1.59345249 |
| 25 | STK38 | 1.49591492 |
| 26 | MUSK | 1.30197971 |
| 27 | TEC | 1.25453947 |
| 28 | STK16 | 1.18427789 |
| 29 | CDK12 | 1.15237327 |
| 30 | TGFBR1 | 1.11352541 |
| 31 | ITK | 1.10011486 |
| 32 | MAP2K6 | 1.07764132 |
| 33 | TESK1 | 1.06654985 |
| 34 | TIE1 | 1.05662844 |
| 35 | TYRO3 | 1.05605308 |
| 36 | MAPKAPK3 | 1.04747702 |
| 37 | CAMK1G | 1.00740927 |
| 38 | STK39 | 0.98590395 |
| 39 | PDK1 | 0.97216320 |
| 40 | SYK | 0.89939296 |
| 41 | SIK2 | 0.88436582 |
| 42 | CSF1R | 0.81895307 |
| 43 | TNIK | 0.78155376 |
| 44 | PDPK1 | 0.73252092 |
| 45 | GRK1 | 0.72153744 |
| 46 | JAK3 | 0.70785896 |
| 47 | ADRBK1 | 0.69394687 |
| 48 | MARK3 | 0.65825583 |
| 49 | TAOK3 | 0.63618895 |
| 50 | RIPK4 | 0.63468585 |
| 51 | BTK | 0.63047211 |
| 52 | NEK2 | 0.60140572 |
| 53 | PRKG1 | 0.59093139 |
| 54 | TRPM7 | 0.56931099 |
| 55 | PRKCQ | 0.56405714 |
| 56 | BMPR2 | 0.56060377 |
| 57 | LATS1 | 0.53857234 |
| 58 | MAP2K1 | 0.52737491 |
| 59 | FES | 0.49670111 |
| 60 | MET | 0.49055143 |
| 61 | CDK7 | 0.48660745 |
| 62 | MAP3K4 | 0.47182917 |
| 63 | PRKCE | 0.47100719 |
| 64 | NME1 | 0.46127892 |
| 65 | MAP3K13 | 0.43437373 |
| 66 | CAMK1 | 0.43189575 |
| 67 | CDK3 | 0.41794069 |
| 68 | PRKCG | 0.41547440 |
| 69 | RPS6KA5 | 0.40297232 |
| 70 | PBK | 0.39833180 |
| 71 | PRKAA2 | 0.36751785 |
| 72 | PRKG2 | 0.36059218 |
| 73 | OXSR1 | 0.35711495 |
| 74 | MAP2K2 | 0.33512882 |
| 75 | SGK1 | 0.31772750 |
| 76 | NEK6 | 0.31748189 |
| 77 | DYRK1B | 0.29902327 |
| 78 | IKBKB | 0.29377806 |
| 79 | MAPK1 | 0.29187967 |
| 80 | MAPK11 | 0.28947882 |
| 81 | CSNK1A1 | 0.28398997 |
| 82 | PRKCI | 0.27039884 |
| 83 | CDK2 | 0.26206263 |
| 84 | RPS6KA2 | 0.26144209 |
| 85 | GSK3B | 0.24883966 |
| 86 | KSR2 | 0.24868333 |
| 87 | LYN | 0.24763007 |
| 88 | TNK2 | 0.24529101 |
| 89 | MAP2K7 | 0.24145978 |
| 90 | WNK3 | 0.22558013 |
| 91 | PHKG1 | 0.21619540 |
| 92 | PHKG2 | 0.21619540 |
| 93 | NTRK3 | 0.21614323 |
| 94 | PRKCB | 0.21018855 |
| 95 | CDK1 | 0.20702479 |
| 96 | PRKCZ | 0.20697332 |
| 97 | RPS6KA1 | 0.20062060 |
| 98 | ZAP70 | 0.19664895 |
| 99 | IGF1R | 0.19544558 |
| 100 | MAP2K3 | 0.19492690 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.15174338 |
| 2 | Olfactory transduction_Homo sapiens_hsa04740 | 4.07220614 |
| 3 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.73497707 |
| 4 | Allograft rejection_Homo sapiens_hsa05330 | 3.29896178 |
| 5 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 3.12370111 |
| 6 | Asthma_Homo sapiens_hsa05310 | 3.07701794 |
| 7 | Graft-versus-host disease_Homo sapiens_hsa05332 | 3.03735545 |
| 8 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 2.95318792 |
| 9 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 2.56648703 |
| 10 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.29812076 |
| 11 | Phototransduction_Homo sapiens_hsa04744 | 2.29117059 |
| 12 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.22705341 |
| 13 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.77355174 |
| 14 | ABC transporters_Homo sapiens_hsa02010 | 1.61009384 |
| 15 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.59016580 |
| 16 | Taste transduction_Homo sapiens_hsa04742 | 1.54881669 |
| 17 | Salivary secretion_Homo sapiens_hsa04970 | 1.50077197 |
| 18 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.50044636 |
| 19 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.41226861 |
| 20 | Viral myocarditis_Homo sapiens_hsa05416 | 1.27061818 |
| 21 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.25648325 |
| 22 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 1.23261136 |
| 23 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 1.20348812 |
| 24 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.19701912 |
| 25 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.16571757 |
| 26 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 1.15120273 |
| 27 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.14304844 |
| 28 | RNA transport_Homo sapiens_hsa03013 | 1.10804245 |
| 29 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.09465950 |
| 30 | Morphine addiction_Homo sapiens_hsa05032 | 1.08870510 |
| 31 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.07051887 |
| 32 | Purine metabolism_Homo sapiens_hsa00230 | 1.06824520 |
| 33 | Nicotine addiction_Homo sapiens_hsa05033 | 1.05801168 |
| 34 | Calcium signaling pathway_Homo sapiens_hsa04020 | 1.02902232 |
| 35 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.00008070 |
| 36 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.98519173 |
| 37 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.98104643 |
| 38 | Basal transcription factors_Homo sapiens_hsa03022 | 0.89202409 |
| 39 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.88256937 |
| 40 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.87881885 |
| 41 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.86866298 |
| 42 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.86564619 |
| 43 | Circadian entrainment_Homo sapiens_hsa04713 | 0.86468567 |
| 44 | Huntingtons disease_Homo sapiens_hsa05016 | 0.84587978 |
| 45 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.83203231 |
| 46 | Peroxisome_Homo sapiens_hsa04146 | 0.83037387 |
| 47 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.82303667 |
| 48 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.82163540 |
| 49 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.78042490 |
| 50 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.74527872 |
| 51 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.71238602 |
| 52 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.70312292 |
| 53 | Hematopoietic cell lineage_Homo sapiens_hsa04640 | 0.69401730 |
| 54 | Leishmaniasis_Homo sapiens_hsa05140 | 0.67403707 |
| 55 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.67258784 |
| 56 | Influenza A_Homo sapiens_hsa05164 | 0.64794230 |
| 57 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.64585771 |
| 58 | Phagosome_Homo sapiens_hsa04145 | 0.60062320 |
| 59 | Retinol metabolism_Homo sapiens_hsa00830 | 0.58355563 |
| 60 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 0.57320327 |
| 61 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.57218036 |
| 62 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.56722547 |
| 63 | Insulin secretion_Homo sapiens_hsa04911 | 0.56342752 |
| 64 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.56332191 |
| 65 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.56269974 |
| 66 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.55454175 |
| 67 | RNA polymerase_Homo sapiens_hsa03020 | 0.54909812 |
| 68 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.54372331 |
| 69 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.54094100 |
| 70 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.52620059 |
| 71 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.51503077 |
| 72 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.48718521 |
| 73 | GABAergic synapse_Homo sapiens_hsa04727 | 0.46815935 |
| 74 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.46349719 |
| 75 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.45935966 |
| 76 | Primary immunodeficiency_Homo sapiens_hsa05340 | 0.44914963 |
| 77 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.44768428 |
| 78 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.43574365 |
| 79 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.43491016 |
| 80 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.42388057 |
| 81 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.42122493 |
| 82 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.41825840 |
| 83 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.41469170 |
| 84 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.40937601 |
| 85 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.40564956 |
| 86 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.40038386 |
| 87 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.39179589 |
| 88 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.38775335 |
| 89 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.37346138 |
| 90 | Platelet activation_Homo sapiens_hsa04611 | 0.36581625 |
| 91 | Metabolic pathways_Homo sapiens_hsa01100 | 0.35514017 |
| 92 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.35178278 |
| 93 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.35095574 |
| 94 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.34950147 |
| 95 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.34560237 |
| 96 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.33216856 |
| 97 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.32998745 |
| 98 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.32944249 |
| 99 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.32557806 |
| 100 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.31724795 |

