

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | reproduction (GO:0000003) | 9.94978547 |
| 2 | epithelial cilium movement (GO:0003351) | 9.86830319 |
| 3 | axonemal dynein complex assembly (GO:0070286) | 9.61887695 |
| 4 | spermatid development (GO:0007286) | 9.42296771 |
| 5 | cilium or flagellum-dependent cell motility (GO:0001539) | 9.28823948 |
| 6 | motile cilium assembly (GO:0044458) | 9.20045265 |
| 7 | cilium movement (GO:0003341) | 7.96110811 |
| 8 | single fertilization (GO:0007338) | 7.77128476 |
| 9 | regulation of cilium movement (GO:0003352) | 7.64033327 |
| 10 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 7.59959100 |
| 11 | male meiosis (GO:0007140) | 7.17369652 |
| 12 | piRNA metabolic process (GO:0034587) | 7.00911580 |
| 13 | sperm capacitation (GO:0048240) | 6.86155064 |
| 14 | synaptonemal complex organization (GO:0070193) | 6.75564556 |
| 15 | synaptonemal complex assembly (GO:0007130) | 6.74284943 |
| 16 | microtubule depolymerization (GO:0007019) | 6.72584922 |
| 17 | spermatogenesis (GO:0007283) | 6.52431304 |
| 18 | fertilization (GO:0009566) | 6.51751906 |
| 19 | male gamete generation (GO:0048232) | 6.50000991 |
| 20 | negative regulation of inclusion body assembly (GO:0090084) | 6.08743252 |
| 21 | gamete generation (GO:0007276) | 5.99888302 |
| 22 | organic cation transport (GO:0015695) | 5.80915749 |
| 23 | calcium ion-dependent exocytosis (GO:0017156) | 5.44496435 |
| 24 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 5.35311488 |
| 25 | germ cell development (GO:0007281) | 5.31297411 |
| 26 | regulation of inclusion body assembly (GO:0090083) | 5.28411755 |
| 27 | glycerol ether metabolic process (GO:0006662) | 5.17819883 |
| 28 | spermatid nucleus differentiation (GO:0007289) | 5.08921570 |
| 29 | cell recognition (GO:0008037) | 5.08794397 |
| 30 | ventricular system development (GO:0021591) | 5.07809544 |
| 31 | DNA methylation involved in gamete generation (GO:0043046) | 4.80001575 |
| 32 | chromosome organization involved in meiosis (GO:0070192) | 4.79229208 |
| 33 | ether metabolic process (GO:0018904) | 4.78005730 |
| 34 | multicellular organismal reproductive process (GO:0048609) | 4.72786712 |
| 35 | male meiosis I (GO:0007141) | 4.56616008 |
| 36 | regulation of microtubule-based movement (GO:0060632) | 4.46619184 |
| 37 | seminiferous tubule development (GO:0072520) | 4.43994040 |
| 38 | chromosome condensation (GO:0030261) | 4.39028211 |
| 39 | microtubule severing (GO:0051013) | 4.15630855 |
| 40 | meiotic nuclear division (GO:0007126) | 4.13928076 |
| 41 | DNA packaging (GO:0006323) | 4.09573666 |
| 42 | left/right pattern formation (GO:0060972) | 4.01217490 |
| 43 | genitalia morphogenesis (GO:0035112) | 4.01154631 |
| 44 | sequestering of actin monomers (GO:0042989) | 3.93380079 |
| 45 | single strand break repair (GO:0000012) | 3.89093887 |
| 46 | sexual reproduction (GO:0019953) | 3.88024904 |
| 47 | monoubiquitinated protein deubiquitination (GO:0035520) | 3.87586976 |
| 48 | multicellular organismal development (GO:0007275) | 3.84172759 |
| 49 | chaperone-mediated protein complex assembly (GO:0051131) | 3.79096978 |
| 50 | protein K11-linked deubiquitination (GO:0035871) | 3.78469812 |
| 51 | meiosis I (GO:0007127) | 3.63839052 |
| 52 | microtubule polymerization or depolymerization (GO:0031109) | 3.47990221 |
| 53 | GTP biosynthetic process (GO:0006183) | 3.44475329 |
| 54 | nucleoside diphosphate phosphorylation (GO:0006165) | 3.29923145 |
| 55 | meiotic cell cycle (GO:0051321) | 3.18333542 |
| 56 | polyol catabolic process (GO:0046174) | 3.17808383 |
| 57 | regulation of spindle checkpoint (GO:0090231) | 3.14395844 |
| 58 | synapsis (GO:0007129) | 3.13812591 |
| 59 | mitotic sister chromatid cohesion (GO:0007064) | 3.11747004 |
| 60 | protein polyglutamylation (GO:0018095) | 3.08660089 |
| 61 | lactate metabolic process (GO:0006089) | 3.08103501 |
| 62 | alditol metabolic process (GO:0019400) | 3.07101791 |
| 63 | glycolytic process (GO:0006096) | 3.06736936 |
| 64 | UTP biosynthetic process (GO:0006228) | 3.05107432 |
| 65 | protein localization to cilium (GO:0061512) | 2.94247807 |
| 66 | amino-acid betaine transport (GO:0015838) | 2.90316200 |
| 67 | carnitine transport (GO:0015879) | 2.90316200 |
| 68 | nucleus organization (GO:0006997) | 2.88769175 |
| 69 | carnitine transmembrane transport (GO:1902603) | 2.77160127 |
| 70 | cellular component assembly involved in morphogenesis (GO:0010927) | 2.76515298 |
| 71 | cilium organization (GO:0044782) | 2.76043877 |
| 72 | UTP metabolic process (GO:0046051) | 2.74431043 |
| 73 | meiotic cell cycle process (GO:1903046) | 2.72787479 |
| 74 | interferon-gamma secretion (GO:0072643) | 2.72045240 |
| 75 | regulation of centriole replication (GO:0046599) | 2.69852848 |
| 76 | microtubule-based movement (GO:0007018) | 2.67379479 |
| 77 | protein refolding (GO:0042026) | 2.66680497 |
| 78 | cilium assembly (GO:0042384) | 2.66542271 |
| 79 | cilium morphogenesis (GO:0060271) | 2.64165598 |
| 80 | glycerol metabolic process (GO:0006071) | 2.63883916 |
| 81 | centriole assembly (GO:0098534) | 2.61523259 |
| 82 | axoneme assembly (GO:0035082) | 2.57511650 |
| 83 | RNA localization (GO:0006403) | 2.47682392 |
| 84 | single-organism membrane fusion (GO:0044801) | 2.44752947 |
| 85 | intraciliary transport (GO:0042073) | 2.41912768 |
| 86 | cell redox homeostasis (GO:0045454) | 2.39774283 |
| 87 | polyamine biosynthetic process (GO:0006596) | 2.38061694 |
| 88 | negative regulation of organelle assembly (GO:1902116) | 2.33403974 |
| 89 | positive regulation of macrophage activation (GO:0043032) | 2.30531862 |
| 90 | fusion of sperm to egg plasma membrane (GO:0007342) | 14.7908591 |
| 91 | sperm motility (GO:0030317) | 13.8726174 |
| 92 | acrosome assembly (GO:0001675) | 12.9120674 |
| 93 | cell wall macromolecule catabolic process (GO:0016998) | 12.8630769 |
| 94 | cell wall macromolecule metabolic process (GO:0044036) | 12.8630769 |
| 95 | multicellular organism reproduction (GO:0032504) | 11.6839387 |
| 96 | acrosome reaction (GO:0007340) | 11.6112369 |
| 97 | sperm-egg recognition (GO:0035036) | 11.6095569 |
| 98 | plasma membrane fusion (GO:0045026) | 11.2985588 |
| 99 | binding of sperm to zona pellucida (GO:0007339) | 10.5881693 |
| 100 | cell-cell recognition (GO:0009988) | 10.4268353 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 8.40304920 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 4.50547097 |
| 3 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 4.31746343 |
| 4 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.01254442 |
| 5 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 3.19259515 |
| 6 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 3.00360849 |
| 7 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.82416992 |
| 8 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 2.47997742 |
| 9 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.44454089 |
| 10 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.35327966 |
| 11 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.21904443 |
| 12 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 2.00323634 |
| 13 | VDR_22108803_ChIP-Seq_LS180_Human | 1.99559992 |
| 14 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.95426622 |
| 15 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.95125578 |
| 16 | * KAP1_22055183_ChIP-Seq_ESCs_Mouse | 1.91606724 |
| 17 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.85726215 |
| 18 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.78858530 |
| 19 | STAT1_17558387_ChIP-Seq_HELA_Human | 1.76940580 |
| 20 | KDM2B_26808549_Chip-Seq_REH_Human | 1.76845212 |
| 21 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.73957405 |
| 22 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.68389539 |
| 23 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.68362407 |
| 24 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.67958422 |
| 25 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.65716659 |
| 26 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 1.64968930 |
| 27 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.60975353 |
| 28 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.60024875 |
| 29 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.57812024 |
| 30 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.56837488 |
| 31 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.54434434 |
| 32 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.48050306 |
| 33 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.45989735 |
| 34 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.41427163 |
| 35 | GATA1_26923725_Chip-Seq_HPCs_Mouse | 1.38786882 |
| 36 | GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.38350469 |
| 37 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.38299562 |
| 38 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.36981408 |
| 39 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.36909397 |
| 40 | FLI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.34510224 |
| 41 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.30349887 |
| 42 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.29963124 |
| 43 | GATA3_21867929_ChIP-Seq_CD8_Mouse | 1.29280555 |
| 44 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 1.28972373 |
| 45 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.28949523 |
| 46 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.28949523 |
| 47 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.27924021 |
| 48 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.27728833 |
| 49 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.26988439 |
| 50 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.26988439 |
| 51 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.26173557 |
| 52 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.25599579 |
| 53 | GATA3_21867929_ChIP-Seq_TH1_Mouse | 1.25260345 |
| 54 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.24304692 |
| 55 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.24267770 |
| 56 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.23292706 |
| 57 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.21616089 |
| 58 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.20671744 |
| 59 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.20634592 |
| 60 | PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse | 1.19586269 |
| 61 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.19421663 |
| 62 | * RNF2_27304074_Chip-Seq_NSC_Mouse | 1.18684991 |
| 63 | ZNF652_21678463_ChIP-ChIP_ZR75-1_Human | 1.16032184 |
| 64 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.15493304 |
| 65 | EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse | 1.14243218 |
| 66 | KLF4_18555785_Chip-Seq_ESCs_Mouse | 1.13510525 |
| 67 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.11914505 |
| 68 | ESRRB_18555785_Chip-Seq_ESCs_Mouse | 1.10928391 |
| 69 | ESET_19884257_ChIP-Seq_ESCs_Mouse | 1.10825437 |
| 70 | PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse | 1.10180388 |
| 71 | CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.10152261 |
| 72 | SOX2_18555785_Chip-Seq_ESCs_Mouse | 1.10119045 |
| 73 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.09545018 |
| 74 | LUZP1_20508642_ChIP-Seq_ESCs_Mouse | 1.08606170 |
| 75 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.08115781 |
| 76 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.08089120 |
| 77 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.07847138 |
| 78 | PU1_27457419_Chip-Seq_LIVER_Mouse | 1.06392721 |
| 79 | NMYC_18555785_Chip-Seq_ESCs_Mouse | 1.03144191 |
| 80 | PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse | 1.03124097 |
| 81 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.02538176 |
| 82 | CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.99529047 |
| 83 | FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 0.99396131 |
| 84 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 0.98024258 |
| 85 | RUNX1_27457419_Chip-Seq_LIVER_Mouse | 0.97427774 |
| 86 | SOX9_26525672_Chip-Seq_HEART_Mouse | 0.96165825 |
| 87 | NFYB_21822215_ChIP-Seq_K562_Human | 0.95413196 |
| 88 | CTCF_18555785_Chip-Seq_ESCs_Mouse | 0.94787464 |
| 89 | ERG_20517297_ChIP-Seq_VCAP_Human | 0.93827514 |
| 90 | SMAD1_18555785_Chip-Seq_ESCs_Mouse | 0.93412670 |
| 91 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.92997657 |
| 92 | SPI1_26923725_Chip-Seq_HPCs_Mouse | 0.92473684 |
| 93 | ZFX_18555785_Chip-Seq_ESCs_Mouse | 0.92421407 |
| 94 | SIN3B_21632747_ChIP-Seq_MESCs_Mouse | 0.91854044 |
| 95 | TBL1_22424771_ChIP-Seq_293T_Human | 0.91628847 |
| 96 | GF1B_26923725_Chip-Seq_HPCs_Mouse | 0.90491100 |
| 97 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.90119493 |
| 98 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 0.89175058 |
| 99 | STAT3_18555785_ChIP-Seq_MESCs_Mouse | 0.87530426 |
| 100 | SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.86378740 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003698_abnormal_male_reproductive | 5.97520689 |
| 2 | MP0001929_abnormal_gametogenesis | 5.50931735 |
| 3 | MP0008877_abnormal_DNA_methylation | 4.20218855 |
| 4 | MP0002210_abnormal_sex_determination | 3.41132126 |
| 5 | MP0002161_abnormal_fertility/fecundity | 3.22410852 |
| 6 | MP0001145_abnormal_male_reproductive | 2.84501547 |
| 7 | MP0000653_abnormal_sex_gland | 2.53924360 |
| 8 | MP0005670_abnormal_white_adipose | 2.47284850 |
| 9 | MP0009278_abnormal_bone_marrow | 2.04620686 |
| 10 | MP0002102_abnormal_ear_morphology | 2.02099716 |
| 11 | MP0005410_abnormal_fertilization | 16.0784329 |
| 12 | MP0002653_abnormal_ependyma_morphology | 1.68259453 |
| 13 | MP0002160_abnormal_reproductive_system | 1.56720200 |
| 14 | MP0008995_early_reproductive_senescence | 1.50113952 |
| 15 | MP0002234_abnormal_pharynx_morphology | 1.42771082 |
| 16 | MP0003950_abnormal_plasma_membrane | 1.36449721 |
| 17 | MP0005623_abnormal_meninges_morphology | 1.28483051 |
| 18 | MP0001765_abnormal_ion_homeostasis | 1.27248580 |
| 19 | MP0005397_hematopoietic_system_phenotyp | 1.24125598 |
| 20 | MP0001545_abnormal_hematopoietic_system | 1.24125598 |
| 21 | MP0008058_abnormal_DNA_repair | 1.17182300 |
| 22 | MP0005647_abnormal_sex_gland | 1.13096205 |
| 23 | MP0002282_abnormal_trachea_morphology | 1.06915549 |
| 24 | MP0005389_reproductive_system_phenotype | 0.97039819 |
| 25 | MP0004036_abnormal_muscle_relaxation | 0.95640947 |
| 26 | MP0008057_abnormal_DNA_replication | 0.89592365 |
| 27 | MP0003646_muscle_fatigue | 0.81878869 |
| 28 | MP0008007_abnormal_cellular_replicative | 0.81857094 |
| 29 | MP0009046_muscle_twitch | 0.79688003 |
| 30 | MP0000566_synostosis | 0.78143534 |
| 31 | MP0004233_abnormal_muscle_weight | 0.68022936 |
| 32 | MP0005636_abnormal_mineral_homeostasis | 0.63647725 |
| 33 | MP0001727_abnormal_embryo_implantation | 0.63600396 |
| 34 | MP0003786_premature_aging | 0.59234426 |
| 35 | MP0010094_abnormal_chromosome_stability | 0.58681104 |
| 36 | MP0001984_abnormal_olfaction | 0.58347926 |
| 37 | MP0003136_yellow_coat_color | 0.56376980 |
| 38 | MP0001293_anophthalmia | 0.55417787 |
| 39 | MP0002736_abnormal_nociception_after | 0.54956003 |
| 40 | MP0001986_abnormal_taste_sensitivity | 0.52003728 |
| 41 | MP0002928_abnormal_bile_duct | 0.50536085 |
| 42 | MP0003699_abnormal_female_reproductive | 0.50078456 |
| 43 | MP0001968_abnormal_touch/_nociception | 0.49715717 |
| 44 | MP0008961_abnormal_basal_metabolism | 0.48744440 |
| 45 | MP0001324_abnormal_eye_pigmentation | 0.46165654 |
| 46 | MP0001119_abnormal_female_reproductive | 0.44076826 |
| 47 | MP0004808_abnormal_hematopoietic_stem | 0.41794726 |
| 48 | MP0000015_abnormal_ear_pigmentation | 0.41489484 |
| 49 | MP0005551_abnormal_eye_electrophysiolog | 0.40975444 |
| 50 | MP0001919_abnormal_reproductive_system | 0.39885533 |
| 51 | MP0005365_abnormal_bile_salt | 0.39647829 |
| 52 | MP0003111_abnormal_nucleus_morphology | 0.39520974 |
| 53 | MP0005409_darkened_coat_color | 0.39044308 |
| 54 | MP0002735_abnormal_chemical_nociception | 0.39036255 |
| 55 | MP0001764_abnormal_homeostasis | 0.38596887 |
| 56 | MP0004484_altered_response_of | 0.38237324 |
| 57 | MP0003011_delayed_dark_adaptation | 0.36138520 |
| 58 | MP0005503_abnormal_tendon_morphology | 0.34897334 |
| 59 | MP0004147_increased_porphyrin_level | 0.34849814 |
| 60 | MP0005253_abnormal_eye_physiology | 0.32757220 |
| 61 | MP0000678_abnormal_parathyroid_gland | 0.31842026 |
| 62 | MP0003115_abnormal_respiratory_system | 0.31590100 |
| 63 | MP0001873_stomach_inflammation | 0.31503603 |
| 64 | MP0005391_vision/eye_phenotype | 0.31004148 |
| 65 | MP0001270_distended_abdomen | 0.28460513 |
| 66 | MP0000462_abnormal_digestive_system | 0.27573495 |
| 67 | MP0003878_abnormal_ear_physiology | 0.27560882 |
| 68 | MP0005377_hearing/vestibular/ear_phenot | 0.27560882 |
| 69 | MP0000372_irregular_coat_pigmentation | 0.27215473 |
| 70 | MP0002168_other_aberrant_phenotype | 0.26871416 |
| 71 | MP0004019_abnormal_vitamin_homeostasis | 0.26477207 |
| 72 | MP0003091_abnormal_cell_migration | 0.26067340 |
| 73 | MP0003879_abnormal_hair_cell | 0.24427084 |
| 74 | MP0002139_abnormal_hepatobiliary_system | 0.24415183 |
| 75 | MP0005666_abnormal_adipose_tissue | 0.24237709 |
| 76 | MP0003633_abnormal_nervous_system | 0.23909404 |
| 77 | MP0003631_nervous_system_phenotype | 0.23421227 |
| 78 | MP0001963_abnormal_hearing_physiology | 0.22225724 |
| 79 | MP0002108_abnormal_muscle_morphology | 0.22044371 |
| 80 | MP0002092_abnormal_eye_morphology | 0.21881519 |
| 81 | MP0003861_abnormal_nervous_system | 0.21768544 |
| 82 | MP0003045_fibrosis | 0.20676481 |
| 83 | MP0004133_heterotaxia | 0.20565338 |
| 84 | MP0002295_abnormal_pulmonary_circulatio | 0.20284965 |
| 85 | MP0002152_abnormal_brain_morphology | 0.19673512 |
| 86 | MP0000569_abnormal_digit_pigmentation | 0.18535702 |
| 87 | MP0002873_normal_phenotype | 0.17796253 |
| 88 | MP0002169_no_abnormal_phenotype | 0.17313978 |
| 89 | MP0002796_impaired_skin_barrier | 0.16960179 |
| 90 | MP0002971_abnormal_brown_adipose | 0.16797866 |
| 91 | MP0009115_abnormal_fat_cell | 0.16282164 |
| 92 | MP0009379_abnormal_foot_pigmentation | 0.15908617 |
| 93 | MP0000534_abnormal_ureter_morphology | 0.15042458 |
| 94 | MP0003943_abnormal_hepatobiliary_system | 0.14017041 |
| 95 | MP0002269_muscular_atrophy | 0.13491091 |
| 96 | MP0003077_abnormal_cell_cycle | 0.13418134 |
| 97 | MP0005085_abnormal_gallbladder_physiolo | 0.13009110 |
| 98 | MP0001486_abnormal_startle_reflex | 0.12973289 |
| 99 | MP0001299_abnormal_eye_distance/ | 0.12823131 |
| 100 | MP0000313_abnormal_cell_death | 0.12650720 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Abnormal respiratory motile cilium physiology (HP:0012261) | 9.70644768 |
| 2 | Abnormal respiratory epithelium morphology (HP:0012253) | 9.56850046 |
| 3 | Abnormal respiratory motile cilium morphology (HP:0005938) | 9.56850046 |
| 4 | Abnormal ciliary motility (HP:0012262) | 8.11906644 |
| 5 | Chronic bronchitis (HP:0004469) | 7.52104598 |
| 6 | Rhinitis (HP:0012384) | 7.38449198 |
| 7 | Infertility (HP:0000789) | 6.56519337 |
| 8 | Nasal polyposis (HP:0100582) | 5.88600573 |
| 9 | Abnormality of the nasal mucosa (HP:0000433) | 4.82330620 |
| 10 | Male infertility (HP:0003251) | 4.55937666 |
| 11 | Bronchitis (HP:0012387) | 4.20666625 |
| 12 | Bronchiectasis (HP:0002110) | 4.13565260 |
| 13 | Recurrent sinusitis (HP:0011108) | 3.87931486 |
| 14 | Nephronophthisis (HP:0000090) | 3.87775301 |
| 15 | Abnormal spermatogenesis (HP:0008669) | 3.28401529 |
| 16 | Recurrent otitis media (HP:0000403) | 3.07222857 |
| 17 | Abnormality of the renal medulla (HP:0100957) | 3.06603738 |
| 18 | Tubulointerstitial nephritis (HP:0001970) | 2.68555278 |
| 19 | Abnormality of midbrain morphology (HP:0002418) | 2.32098881 |
| 20 | Molar tooth sign on MRI (HP:0002419) | 2.32098881 |
| 21 | Dyschromatopsia (HP:0007641) | 2.25331221 |
| 22 | Tubular atrophy (HP:0000092) | 2.14357607 |
| 23 | Medial flaring of the eyebrow (HP:0010747) | 2.13894164 |
| 24 | Tubulointerstitial abnormality (HP:0001969) | 2.10348666 |
| 25 | Azoospermia (HP:0000027) | 2.09088125 |
| 26 | Absent/shortened dynein arms (HP:0200106) | 14.0706033 |
| 27 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 14.0706033 |
| 28 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 13.1118813 |
| 29 | Recurrent bronchitis (HP:0002837) | 1.99707976 |
| 30 | Congenital malformation of the right heart (HP:0011723) | 1.98618423 |
| 31 | Double outlet right ventricle (HP:0001719) | 1.98618423 |
| 32 | Gonadotropin excess (HP:0000837) | 1.94964539 |
| 33 | Decreased central vision (HP:0007663) | 1.91781981 |
| 34 | Abnormality of the renal cortex (HP:0011035) | 1.82637268 |
| 35 | Impulsivity (HP:0100710) | 1.78583904 |
| 36 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 1.77525987 |
| 37 | Asymmetric septal hypertrophy (HP:0001670) | 1.76100754 |
| 38 | Congenital hepatic fibrosis (HP:0002612) | 1.72761556 |
| 39 | Stage 5 chronic kidney disease (HP:0003774) | 1.70711583 |
| 40 | Postaxial foot polydactyly (HP:0001830) | 1.68590868 |
| 41 | Spastic tetraparesis (HP:0001285) | 1.64780285 |
| 42 | Renal dysplasia (HP:0000110) | 1.64103765 |
| 43 | Abnormality of renal excretion (HP:0011036) | 1.62501583 |
| 44 | Abnormality of permanent molar morphology (HP:0011071) | 1.61730232 |
| 45 | Abnormality of the dental root (HP:0006486) | 1.61730232 |
| 46 | Taurodontia (HP:0000679) | 1.61730232 |
| 47 | Abnormal gallbladder physiology (HP:0012438) | 1.60714422 |
| 48 | Cholecystitis (HP:0001082) | 1.60714422 |
| 49 | Tubulointerstitial fibrosis (HP:0005576) | 1.54358697 |
| 50 | Hemorrhage of the eye (HP:0011885) | 1.54277576 |
| 51 | Abnormality of molar (HP:0011077) | 1.52452162 |
| 52 | Abnormality of molar morphology (HP:0011070) | 1.52452162 |
| 53 | Abnormality of the dental pulp (HP:0006479) | 1.47728129 |
| 54 | Fibular hypoplasia (HP:0003038) | 1.47397533 |
| 55 | Vascular calcification (HP:0004934) | 1.45659753 |
| 56 | Abnormal biliary tract physiology (HP:0012439) | 1.45405165 |
| 57 | Bile duct proliferation (HP:0001408) | 1.45405165 |
| 58 | Abnormal drinking behavior (HP:0030082) | 1.42128029 |
| 59 | Polydipsia (HP:0001959) | 1.42128029 |
| 60 | Choroideremia (HP:0001139) | 1.39529211 |
| 61 | Bell-shaped thorax (HP:0001591) | 1.38142234 |
| 62 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 1.37374404 |
| 63 | Absent epiphyses (HP:0010577) | 1.37374404 |
| 64 | Constricted visual fields (HP:0001133) | 1.33161468 |
| 65 | Exercise-induced myalgia (HP:0003738) | 1.31105238 |
| 66 | Postaxial hand polydactyly (HP:0001162) | 1.29609914 |
| 67 | Cardiovascular calcification (HP:0011915) | 1.28940185 |
| 68 | Microglossia (HP:0000171) | 1.27963575 |
| 69 | True hermaphroditism (HP:0010459) | 1.27391517 |
| 70 | Abdominal situs inversus (HP:0003363) | 1.27051554 |
| 71 | Abnormality of abdominal situs (HP:0011620) | 1.27051554 |
| 72 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.24457412 |
| 73 | Transposition of the great arteries (HP:0001669) | 1.24457412 |
| 74 | Abnormal connection of the cardiac segments (HP:0011545) | 1.24457412 |
| 75 | Oculomotor apraxia (HP:0000657) | 1.24257361 |
| 76 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 1.22597468 |
| 77 | Renovascular hypertension (HP:0100817) | 1.21904102 |
| 78 | Aplasia/Hypoplasia of the lens (HP:0008063) | 1.21856008 |
| 79 | Abnormal urine output (HP:0012590) | 1.21522845 |
| 80 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 1.21096555 |
| 81 | Tetany (HP:0001281) | 1.20771542 |
| 82 | Elfin facies (HP:0004428) | 1.20686861 |
| 83 | J-shaped sella turcica (HP:0002680) | 1.19575985 |
| 84 | Heterotopia (HP:0002282) | 1.18657518 |
| 85 | Short ribs (HP:0000773) | 1.18131987 |
| 86 | Chronic sinusitis (HP:0011109) | 1.16928467 |
| 87 | Short femoral neck (HP:0100864) | 1.16478433 |
| 88 | Bundle branch block (HP:0011710) | 1.16227993 |
| 89 | Facial cleft (HP:0002006) | 1.16021232 |
| 90 | Cystic liver disease (HP:0006706) | 1.15536695 |
| 91 | Pachygyria (HP:0001302) | 1.14022303 |
| 92 | Flattened epiphyses (HP:0003071) | 1.13788255 |
| 93 | Gait imbalance (HP:0002141) | 1.13444329 |
| 94 | Abnormality of dentin (HP:0010299) | 1.12345802 |
| 95 | Abnormality of the lower motor neuron (HP:0002366) | 1.12114132 |
| 96 | Hyperphosphatemia (HP:0002905) | 1.12113158 |
| 97 | Absent frontal sinuses (HP:0002688) | 1.11909527 |
| 98 | Sensory axonal neuropathy (HP:0003390) | 1.11851372 |
| 99 | Congenital primary aphakia (HP:0007707) | 1.11365979 |
| 100 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.11297327 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PDK4 | 9.03414030 |
| 2 | PDK3 | 9.03414030 |
| 3 | PDK2 | 5.98957373 |
| 4 | TESK1 | 4.65886026 |
| 5 | PRKD3 | 4.02762929 |
| 6 | ICK | 3.45989464 |
| 7 | STK39 | 2.02551330 |
| 8 | PTK2B | 1.97883261 |
| 9 | WNK4 | 1.96962304 |
| 10 | PNCK | 1.70194096 |
| 11 | STK38 | 1.39475595 |
| 12 | DYRK1B | 1.26148516 |
| 13 | PDK1 | 1.26018435 |
| 14 | NEK2 | 1.25876915 |
| 15 | DYRK3 | 0.91922772 |
| 16 | TYRO3 | 0.85510867 |
| 17 | IRAK1 | 0.80831608 |
| 18 | INSRR | 0.80751793 |
| 19 | NTRK2 | 0.78143567 |
| 20 | MAPK15 | 0.75968677 |
| 21 | WNK1 | 0.72835483 |
| 22 | OBSCN | 0.70924972 |
| 23 | PDPK1 | 0.69204721 |
| 24 | TTK | 0.64612065 |
| 25 | CAMK1G | 0.59854134 |
| 26 | CHEK2 | 0.58718209 |
| 27 | PINK1 | 0.57740515 |
| 28 | PASK | 0.57654728 |
| 29 | NTRK1 | 0.56737261 |
| 30 | MAP2K6 | 0.56554062 |
| 31 | STK3 | 0.53424812 |
| 32 | GRK1 | 0.51973410 |
| 33 | NLK | 0.48939767 |
| 34 | IRAK2 | 0.47797163 |
| 35 | RIPK4 | 0.43780988 |
| 36 | CHEK1 | 0.43250435 |
| 37 | MUSK | 0.43152720 |
| 38 | CCNB1 | 0.43058651 |
| 39 | LMTK2 | 0.41480444 |
| 40 | PKN1 | 0.41459741 |
| 41 | MARK2 | 0.40238287 |
| 42 | EEF2K | 0.39855766 |
| 43 | STK38L | 0.39019597 |
| 44 | PIM1 | 0.36209024 |
| 45 | WNK3 | 0.36078920 |
| 46 | PRKCG | 0.35237330 |
| 47 | ATM | 0.33866300 |
| 48 | MST4 | 0.31134122 |
| 49 | TESK2 | 0.30918992 |
| 50 | WEE1 | 0.29394308 |
| 51 | PAK1 | 0.26578132 |
| 52 | FRK | 0.25348829 |
| 53 | CAMKK1 | 0.24040434 |
| 54 | PLK1 | 0.24018188 |
| 55 | NEK6 | 0.20464318 |
| 56 | FGFR2 | 0.20181933 |
| 57 | ATR | 0.17709236 |
| 58 | RPS6KB1 | 0.17662855 |
| 59 | MAPKAPK5 | 0.17449182 |
| 60 | PLK4 | 0.17417424 |
| 61 | PAK6 | 0.16225009 |
| 62 | PRKG2 | 0.15841769 |
| 63 | BRSK2 | 0.15708232 |
| 64 | PRKCQ | 0.14347945 |
| 65 | MELK | 0.14336995 |
| 66 | CSNK1E | 0.14108406 |
| 67 | PRKG1 | 0.13969755 |
| 68 | MAP3K5 | 0.13369039 |
| 69 | PAK2 | 0.12245593 |
| 70 | PRKAA1 | 0.11820532 |
| 71 | MTOR | 0.10837626 |
| 72 | CSNK2A1 | 0.09539131 |
| 73 | PRKCZ | 0.09528221 |
| 74 | CAMK2A | 0.08728844 |
| 75 | CSNK1D | 0.08208362 |
| 76 | PRPF4B | 0.08124136 |
| 77 | CDK15 | 0.07710012 |
| 78 | ADRBK2 | 0.07667706 |
| 79 | GSK3B | 0.07545079 |
| 80 | CSNK2A2 | 0.07136510 |
| 81 | CDK1 | 0.05976605 |
| 82 | PAK4 | 0.05792772 |
| 83 | PRKACG | 0.05600805 |
| 84 | YES1 | 0.05441019 |
| 85 | TBK1 | 0.05224832 |
| 86 | STK11 | 0.04841135 |
| 87 | MAP3K10 | 0.04751991 |
| 88 | CDK6 | 0.04620671 |
| 89 | CDK18 | 0.04540459 |
| 90 | EGFR | 0.04457054 |
| 91 | CDK2 | 0.03657139 |
| 92 | PRKACA | 0.03622084 |
| 93 | PRKACB | 0.03459026 |
| 94 | BRSK1 | 0.03207785 |
| 95 | GSK3A | 0.02989958 |
| 96 | CDK11A | 0.02938703 |
| 97 | MAPK1 | 0.02269347 |
| 98 | RPS6KA3 | 0.02115086 |
| 99 | PIM2 | 0.02014448 |
| 100 | MAPK8 | 0.01777014 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 6.16153741 |
| 2 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 4.15439383 |
| 3 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.09581365 |
| 4 | Pyruvate metabolism_Homo sapiens_hsa00620 | 3.60601313 |
| 5 | Propanoate metabolism_Homo sapiens_hsa00640 | 3.28424162 |
| 6 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 2.80596698 |
| 7 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 2.51871593 |
| 8 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.45108142 |
| 9 | Basal transcription factors_Homo sapiens_hsa03022 | 2.35844677 |
| 10 | PPAR signaling pathway_Homo sapiens_hsa03320 | 2.28529972 |
| 11 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 2.26606041 |
| 12 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 2.17058070 |
| 13 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 1.91742469 |
| 14 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.82922070 |
| 15 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.82233503 |
| 16 | Pentose phosphate pathway_Homo sapiens_hsa00030 | 1.75710661 |
| 17 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.73766579 |
| 18 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.66014533 |
| 19 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.65810225 |
| 20 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.65047397 |
| 21 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.64959930 |
| 22 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.49047790 |
| 23 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 1.45172982 |
| 24 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 1.43897244 |
| 25 | Mineral absorption_Homo sapiens_hsa04978 | 1.36835913 |
| 26 | Renin secretion_Homo sapiens_hsa04924 | 1.34592486 |
| 27 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.33104530 |
| 28 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.26378121 |
| 29 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.19055698 |
| 30 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.18287661 |
| 31 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 1.17630837 |
| 32 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.13746723 |
| 33 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.12789832 |
| 34 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.05423288 |
| 35 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.03627949 |
| 36 | Carbon metabolism_Homo sapiens_hsa01200 | 1.03531026 |
| 37 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.98742948 |
| 38 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.96747299 |
| 39 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.95423157 |
| 40 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.92450434 |
| 41 | Purine metabolism_Homo sapiens_hsa00230 | 0.89906632 |
| 42 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.88777254 |
| 43 | Insulin secretion_Homo sapiens_hsa04911 | 0.87991210 |
| 44 | Long-term potentiation_Homo sapiens_hsa04720 | 0.86409163 |
| 45 | Taste transduction_Homo sapiens_hsa04742 | 0.86015945 |
| 46 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.85362250 |
| 47 | Antigen processing and presentation_Homo sapiens_hsa04612 | 0.84358030 |
| 48 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.81467912 |
| 49 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.77881832 |
| 50 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.76058539 |
| 51 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.74128374 |
| 52 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.74047708 |
| 53 | ABC transporters_Homo sapiens_hsa02010 | 0.67989579 |
| 54 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.66075250 |
| 55 | Huntingtons disease_Homo sapiens_hsa05016 | 0.64208175 |
| 56 | Bile secretion_Homo sapiens_hsa04976 | 0.61995845 |
| 57 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.60239334 |
| 58 | Salivary secretion_Homo sapiens_hsa04970 | 0.59481880 |
| 59 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.57511626 |
| 60 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.57361935 |
| 61 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.52336926 |
| 62 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.50752757 |
| 63 | RNA transport_Homo sapiens_hsa03013 | 0.48140370 |
| 64 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.47839189 |
| 65 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.45903984 |
| 66 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.43902071 |
| 67 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.42826879 |
| 68 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.42116805 |
| 69 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.39005583 |
| 70 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.38452546 |
| 71 | Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa05014 | 0.38373978 |
| 72 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.36713047 |
| 73 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.34438383 |
| 74 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.33924070 |
| 75 | Metabolic pathways_Homo sapiens_hsa01100 | 0.32630303 |
| 76 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.32404245 |
| 77 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.32295709 |
| 78 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.30652567 |
| 79 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.30601200 |
| 80 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.29516357 |
| 81 | Circadian entrainment_Homo sapiens_hsa04713 | 0.28739118 |
| 82 | Rheumatoid arthritis_Homo sapiens_hsa05323 | 0.27982242 |
| 83 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.27652929 |
| 84 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.27464698 |
| 85 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.27333469 |
| 86 | Cocaine addiction_Homo sapiens_hsa05030 | 0.26547193 |
| 87 | Endocytosis_Homo sapiens_hsa04144 | 0.23661150 |
| 88 | Legionellosis_Homo sapiens_hsa05134 | 0.22908864 |
| 89 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.22258527 |
| 90 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.20325842 |
| 91 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.19647329 |
| 92 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.19579527 |
| 93 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.18561481 |
| 94 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.17538514 |
| 95 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.16286511 |
| 96 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.15562423 |
| 97 | Axon guidance_Homo sapiens_hsa04360 | 0.14916096 |
| 98 | Retinol metabolism_Homo sapiens_hsa00830 | 0.14756475 |
| 99 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.11276206 |
| 100 | Olfactory transduction_Homo sapiens_hsa04740 | 0.10726542 |

