

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm motility (GO:0030317) | 9.32733786 |
| 2 | plasma membrane fusion (GO:0045026) | 8.60819795 |
| 3 | multicellular organism reproduction (GO:0032504) | 7.52656391 |
| 4 | microtubule depolymerization (GO:0007019) | 7.07099784 |
| 5 | sperm capacitation (GO:0048240) | 6.50038145 |
| 6 | reproduction (GO:0000003) | 6.28610950 |
| 7 | sperm-egg recognition (GO:0035036) | 6.23323314 |
| 8 | calcium ion-dependent exocytosis (GO:0017156) | 6.07191906 |
| 9 | spermatid development (GO:0007286) | 6.06936453 |
| 10 | chromosome condensation (GO:0030261) | 5.93287486 |
| 11 | spermatid nucleus differentiation (GO:0007289) | 5.83068753 |
| 12 | DNA packaging (GO:0006323) | 5.78643840 |
| 13 | response to pheromone (GO:0019236) | 5.78287024 |
| 14 | protein polyglutamylation (GO:0018095) | 5.74289253 |
| 15 | binding of sperm to zona pellucida (GO:0007339) | 5.71520595 |
| 16 | protein targeting to Golgi (GO:0000042) | 5.69415335 |
| 17 | single strand break repair (GO:0000012) | 5.55207618 |
| 18 | establishment of protein localization to Golgi (GO:0072600) | 5.53265293 |
| 19 | microtubule polymerization or depolymerization (GO:0031109) | 5.52758211 |
| 20 | RNA destabilization (GO:0050779) | 5.33037949 |
| 21 | regulation of cilium movement (GO:0003352) | 5.31171024 |
| 22 | centriole replication (GO:0007099) | 5.27557867 |
| 23 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.19537927 |
| 24 | cellular ketone body metabolic process (GO:0046950) | 5.11946731 |
| 25 | cell-cell recognition (GO:0009988) | 5.03422654 |
| 26 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 4.99062243 |
| 27 | RNA localization (GO:0006403) | 4.98302247 |
| 28 | spermatogenesis (GO:0007283) | 4.79292846 |
| 29 | rRNA methylation (GO:0031167) | 4.79282962 |
| 30 | male gamete generation (GO:0048232) | 4.77306086 |
| 31 | gamete generation (GO:0007276) | 4.58396155 |
| 32 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.50510312 |
| 33 | ketone body metabolic process (GO:1902224) | 4.48817163 |
| 34 | negative regulation of inclusion body assembly (GO:0090084) | 4.29754995 |
| 35 | centriole assembly (GO:0098534) | 4.28322112 |
| 36 | single fertilization (GO:0007338) | 4.21063896 |
| 37 | axonemal dynein complex assembly (GO:0070286) | 4.07620573 |
| 38 | coenzyme catabolic process (GO:0009109) | 4.06587036 |
| 39 | protein localization to Golgi apparatus (GO:0034067) | 4.00278741 |
| 40 | rRNA modification (GO:0000154) | 3.93770471 |
| 41 | sexual reproduction (GO:0019953) | 3.86283402 |
| 42 | cilium or flagellum-dependent cell motility (GO:0001539) | 3.82111311 |
| 43 | germ cell development (GO:0007281) | 3.76757336 |
| 44 | multicellular organismal reproductive process (GO:0048609) | 3.76081124 |
| 45 | seminiferous tubule development (GO:0072520) | 3.73884329 |
| 46 | estrogen biosynthetic process (GO:0006703) | 3.69674380 |
| 47 | glomerular visceral epithelial cell development (GO:0072015) | 3.63306281 |
| 48 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.57475655 |
| 49 | microtubule severing (GO:0051013) | 3.55029095 |
| 50 | regulation of microtubule-based movement (GO:0060632) | 3.54296118 |
| 51 | artery development (GO:0060840) | 3.45448282 |
| 52 | regulation of Rab GTPase activity (GO:0032313) | 3.40965781 |
| 53 | positive regulation of Rab GTPase activity (GO:0032851) | 3.40965781 |
| 54 | negative regulation of astrocyte differentiation (GO:0048712) | 3.37829407 |
| 55 | fertilization (GO:0009566) | 3.36694248 |
| 56 | glomerular epithelial cell development (GO:0072310) | 3.35765813 |
| 57 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.33565087 |
| 58 | positive regulation of dendritic spine morphogenesis (GO:0061003) | 3.32459188 |
| 59 | regulation of inclusion body assembly (GO:0090083) | 3.32411184 |
| 60 | motile cilium assembly (GO:0044458) | 3.26134663 |
| 61 | glycerol ether metabolic process (GO:0006662) | 3.23994559 |
| 62 | cell wall macromolecule catabolic process (GO:0016998) | 3.16949586 |
| 63 | cell recognition (GO:0008037) | 3.15231459 |
| 64 | cerebral cortex radially oriented cell migration (GO:0021799) | 3.12115333 |
| 65 | epithelial cilium movement (GO:0003351) | 3.11637225 |
| 66 | ether metabolic process (GO:0018904) | 3.02820920 |
| 67 | fat-soluble vitamin biosynthetic process (GO:0042362) | 2.99873483 |
| 68 | nucleus organization (GO:0006997) | 2.98035917 |
| 69 | musculoskeletal movement (GO:0050881) | 2.96599789 |
| 70 | multicellular organismal movement (GO:0050879) | 2.96599789 |
| 71 | cofactor catabolic process (GO:0051187) | 2.92952423 |
| 72 | cell wall macromolecule metabolic process (GO:0044036) | 2.87525624 |
| 73 | NLS-bearing protein import into nucleus (GO:0006607) | 2.86756907 |
| 74 | neurotransmitter-gated ion channel clustering (GO:0072578) | 2.85351202 |
| 75 | cranial nerve morphogenesis (GO:0021602) | 2.85263390 |
| 76 | microtubule nucleation (GO:0007020) | 2.85239311 |
| 77 | mitochondrial fission (GO:0000266) | 2.83730141 |
| 78 | phagocytosis, recognition (GO:0006910) | 2.78531681 |
| 79 | oogenesis (GO:0048477) | 2.78315176 |
| 80 | peptidyl-glutamic acid modification (GO:0018200) | 2.78123691 |
| 81 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.73980808 |
| 82 | axoneme assembly (GO:0035082) | 2.71933051 |
| 83 | short-term memory (GO:0007614) | 2.71883116 |
| 84 | cilium movement (GO:0003341) | 2.70510929 |
| 85 | secretory granule organization (GO:0033363) | 2.68162124 |
| 86 | negative regulation of neurotransmitter secretion (GO:0046929) | 2.67895545 |
| 87 | spliceosomal tri-snRNP complex assembly (GO:0000244) | 2.67186099 |
| 88 | positive regulation of excitatory postsynaptic membrane potential (GO:2000463) | 2.66667345 |
| 89 | negative regulation of oligodendrocyte differentiation (GO:0048715) | 2.66428387 |
| 90 | centrosome duplication (GO:0051298) | 2.63287005 |
| 91 | forebrain morphogenesis (GO:0048853) | 2.62252377 |
| 92 | regulation of centriole replication (GO:0046599) | 2.58857206 |
| 93 | positive regulation of adenylate cyclase activity (GO:0045762) | 2.58533369 |
| 94 | sympathetic nervous system development (GO:0048485) | 2.58417832 |
| 95 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.58101035 |
| 96 | peptidyl-threonine dephosphorylation (GO:0035970) | 2.56991254 |
| 97 | estrogen metabolic process (GO:0008210) | 2.56636671 |
| 98 | lateral ventricle development (GO:0021670) | 2.48090796 |
| 99 | acrosome reaction (GO:0007340) | 11.6676324 |
| 100 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.1177873 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EZH2_22144423_ChIP-Seq_EOC_Human | 4.18012858 |
| 2 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.33750221 |
| 3 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.42330583 |
| 4 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.40088599 |
| 5 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.35348985 |
| 6 | VDR_22108803_ChIP-Seq_LS180_Human | 2.22767711 |
| 7 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.18268219 |
| 8 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.14696476 |
| 9 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.14696476 |
| 10 | FUS_26573619_Chip-Seq_HEK293_Human | 2.12532720 |
| 11 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.02490239 |
| 12 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.02490239 |
| 13 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.88126105 |
| 14 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.86786331 |
| 15 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.84799766 |
| 16 | P300_19829295_ChIP-Seq_ESCs_Human | 1.82610631 |
| 17 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.81036339 |
| 18 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.76585234 |
| 19 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.76345876 |
| 20 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.69924446 |
| 21 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.69741483 |
| 22 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.66232498 |
| 23 | AR_25329375_ChIP-Seq_VCAP_Human | 1.65661938 |
| 24 | GBX2_23144817_ChIP-Seq_PC3_Human | 1.60574179 |
| 25 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.59458712 |
| 26 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.58273813 |
| 27 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.58117210 |
| 28 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.56630520 |
| 29 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.55941678 |
| 30 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.55801626 |
| 31 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.54606438 |
| 32 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.54154276 |
| 33 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.46434501 |
| 34 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.44494270 |
| 35 | * ERA_21632823_ChIP-Seq_H3396_Human | 1.43618189 |
| 36 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.42237397 |
| 37 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.41029500 |
| 38 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.40080724 |
| 39 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.40006121 |
| 40 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.39709550 |
| 41 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.37293883 |
| 42 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.37192318 |
| 43 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.36447193 |
| 44 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.35685969 |
| 45 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.34114007 |
| 46 | STAT3_23295773_ChIP-Seq_U87_Human | 1.30698711 |
| 47 | SMAD_19615063_ChIP-ChIP_OVARY_Human | 1.30434679 |
| 48 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.25646894 |
| 49 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.25039958 |
| 50 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.25039958 |
| 51 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.23987824 |
| 52 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.23314715 |
| 53 | TBL1_22424771_ChIP-Seq_293T_Human | 1.23304063 |
| 54 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 1.23001358 |
| 55 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.22510101 |
| 56 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.22328265 |
| 57 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.22317251 |
| 58 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.22268224 |
| 59 | TCF4_23295773_ChIP-Seq_U87_Human | 1.22161192 |
| 60 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.22018692 |
| 61 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.21722445 |
| 62 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.21364320 |
| 63 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.21082381 |
| 64 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.21021887 |
| 65 | LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.20793301 |
| 66 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.20063055 |
| 67 | NFYB_21822215_ChIP-Seq_K562_Human | 1.19944133 |
| 68 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.19285417 |
| 69 | CJUN_26792858_Chip-Seq_BT549_Human | 1.18807694 |
| 70 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.18617378 |
| 71 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.17749784 |
| 72 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.16870010 |
| 73 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 1.16678059 |
| 74 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.16454489 |
| 75 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.15526802 |
| 76 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.14777978 |
| 77 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.14737370 |
| 78 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.14345332 |
| 79 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.12407219 |
| 80 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.11916093 |
| 81 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.11204741 |
| 82 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.10994160 |
| 83 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.10863614 |
| 84 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.10149938 |
| 85 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.10090915 |
| 86 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.08646209 |
| 87 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.08597151 |
| 88 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.08557976 |
| 89 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.07201747 |
| 90 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.06578531 |
| 91 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.06372867 |
| 92 | KLF4_19829295_ChIP-Seq_ESCs_Human | 1.05981359 |
| 93 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.05973639 |
| 94 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.05895759 |
| 95 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.05779486 |
| 96 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.05767918 |
| 97 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.05481087 |
| 98 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.05451991 |
| 99 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.04217306 |
| 100 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.04096799 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 9.79930557 |
| 2 | MP0006054_spinal_hemorrhage | 4.01919102 |
| 3 | MP0005670_abnormal_white_adipose | 3.71790762 |
| 4 | MP0003698_abnormal_male_reproductive | 3.45543537 |
| 5 | MP0001929_abnormal_gametogenesis | 2.98908383 |
| 6 | MP0003011_delayed_dark_adaptation | 2.87020621 |
| 7 | MP0005377_hearing/vestibular/ear_phenot | 2.64386850 |
| 8 | MP0003878_abnormal_ear_physiology | 2.64386850 |
| 9 | MP0001879_abnormal_lymphatic_vessel | 2.33889335 |
| 10 | MP0004510_myositis | 2.30084779 |
| 11 | MP0009697_abnormal_copulation | 2.23684440 |
| 12 | MP0003880_abnormal_central_pattern | 2.08310078 |
| 13 | MP0002234_abnormal_pharynx_morphology | 1.93457274 |
| 14 | MP0005645_abnormal_hypothalamus_physiol | 1.92672714 |
| 15 | MP0002653_abnormal_ependyma_morphology | 1.86983882 |
| 16 | MP0002161_abnormal_fertility/fecundity | 1.85270659 |
| 17 | MP0005423_abnormal_somatic_nervous | 1.84461940 |
| 18 | MP0005666_abnormal_adipose_tissue | 1.81026370 |
| 19 | MP0001968_abnormal_touch/_nociception | 1.80883314 |
| 20 | MP0005379_endocrine/exocrine_gland_phen | 1.73932235 |
| 21 | MP0003045_fibrosis | 1.72207304 |
| 22 | MP0002735_abnormal_chemical_nociception | 1.62551962 |
| 23 | MP0004742_abnormal_vestibular_system | 1.60072154 |
| 24 | MP0005646_abnormal_pituitary_gland | 1.58980933 |
| 25 | MP0003718_maternal_effect | 1.56890310 |
| 26 | MP0002210_abnormal_sex_determination | 1.53455303 |
| 27 | MP0001486_abnormal_startle_reflex | 1.51308983 |
| 28 | MP0003941_abnormal_skin_development | 1.45898846 |
| 29 | MP0002736_abnormal_nociception_after | 1.45764379 |
| 30 | MP0002249_abnormal_larynx_morphology | 1.45727375 |
| 31 | MP0005551_abnormal_eye_electrophysiolog | 1.39375124 |
| 32 | MP0001348_abnormal_lacrimal_gland | 1.38473834 |
| 33 | MP0010307_abnormal_tumor_latency | 1.34794507 |
| 34 | MP0000534_abnormal_ureter_morphology | 1.30501912 |
| 35 | MP0008877_abnormal_DNA_methylation | 1.30499064 |
| 36 | MP0005395_other_phenotype | 1.28853349 |
| 37 | MP0008872_abnormal_physiological_respon | 1.26967418 |
| 38 | MP0004134_abnormal_chest_morphology | 1.25966088 |
| 39 | MP0005375_adipose_tissue_phenotype | 1.24408281 |
| 40 | MP0001984_abnormal_olfaction | 1.24221318 |
| 41 | MP0004270_analgesia | 1.21545515 |
| 42 | MP0002168_other_aberrant_phenotype | 1.18972676 |
| 43 | MP0006276_abnormal_autonomic_nervous | 1.18634456 |
| 44 | MP0008789_abnormal_olfactory_epithelium | 1.18390985 |
| 45 | MP0002163_abnormal_gland_morphology | 1.14527443 |
| 46 | MP0000230_abnormal_systemic_arterial | 1.09888552 |
| 47 | MP0001145_abnormal_male_reproductive | 1.09104674 |
| 48 | MP0002108_abnormal_muscle_morphology | 1.08756901 |
| 49 | MP0003943_abnormal_hepatobiliary_system | 1.06884592 |
| 50 | MP0002733_abnormal_thermal_nociception | 1.05870557 |
| 51 | MP0000653_abnormal_sex_gland | 1.04506856 |
| 52 | MP0004085_abnormal_heartbeat | 1.03605482 |
| 53 | MP0001440_abnormal_grooming_behavior | 1.02601370 |
| 54 | MP0002734_abnormal_mechanical_nocicepti | 1.02498286 |
| 55 | MP0002067_abnormal_sensory_capabilities | 0.96947770 |
| 56 | MP0009115_abnormal_fat_cell | 0.96689987 |
| 57 | MP0000249_abnormal_blood_vessel | 0.93966860 |
| 58 | MP0002557_abnormal_social/conspecific_i | 0.92113514 |
| 59 | MP0004484_altered_response_of | 0.91519764 |
| 60 | MP0000613_abnormal_salivary_gland | 0.90605162 |
| 61 | MP0005310_abnormal_salivary_gland | 0.90175472 |
| 62 | MP0002132_abnormal_respiratory_system | 0.89875321 |
| 63 | MP0005394_taste/olfaction_phenotype | 0.89571879 |
| 64 | MP0005499_abnormal_olfactory_system | 0.89571879 |
| 65 | MP0003633_abnormal_nervous_system | 0.88822690 |
| 66 | MP0009745_abnormal_behavioral_response | 0.86909792 |
| 67 | MP0002233_abnormal_nose_morphology | 0.86617761 |
| 68 | MP0001529_abnormal_vocalization | 0.85450300 |
| 69 | MP0002272_abnormal_nervous_system | 0.85213820 |
| 70 | MP0002229_neurodegeneration | 0.83145527 |
| 71 | MP0004084_abnormal_cardiac_muscle | 0.82970738 |
| 72 | MP0005386_behavior/neurological_phenoty | 0.80996684 |
| 73 | MP0004924_abnormal_behavior | 0.80996684 |
| 74 | MP0001963_abnormal_hearing_physiology | 0.77438572 |
| 75 | MP0003942_abnormal_urinary_system | 0.77417599 |
| 76 | MP0005408_hypopigmentation | 0.77055756 |
| 77 | MP0001485_abnormal_pinna_reflex | 0.74165358 |
| 78 | MP0009053_abnormal_anal_canal | 0.74153408 |
| 79 | MP0000733_abnormal_muscle_development | 0.72083584 |
| 80 | MP0005647_abnormal_sex_gland | 0.71920341 |
| 81 | MP0003935_abnormal_craniofacial_develop | 0.71325802 |
| 82 | MP0000678_abnormal_parathyroid_gland | 0.70193866 |
| 83 | MP0001970_abnormal_pain_threshold | 0.69149772 |
| 84 | MP0000639_abnormal_adrenal_gland | 0.68438494 |
| 85 | MP0003385_abnormal_body_wall | 0.66337801 |
| 86 | MP0003631_nervous_system_phenotype | 0.66235503 |
| 87 | MP0000955_abnormal_spinal_cord | 0.66154602 |
| 88 | MP0005253_abnormal_eye_physiology | 0.66085163 |
| 89 | MP0004883_abnormal_blood_vessel | 0.65788070 |
| 90 | MP0001765_abnormal_ion_homeostasis | 0.65720803 |
| 91 | MP0005164_abnormal_response_to | 0.65483164 |
| 92 | MP0002127_abnormal_cardiovascular_syste | 0.65346934 |
| 93 | MP0002572_abnormal_emotion/affect_behav | 0.64860880 |
| 94 | MP0000026_abnormal_inner_ear | 0.64590914 |
| 95 | MP0004859_abnormal_synaptic_plasticity | 0.62852237 |
| 96 | MP0002064_seizures | 0.62711791 |
| 97 | MP0010368_abnormal_lymphatic_system | 0.60193845 |
| 98 | MP0001958_emphysema | 0.59292154 |
| 99 | MP0002822_catalepsy | 0.58313371 |
| 100 | MP0003635_abnormal_synaptic_transmissio | 0.57640822 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Cone-rod dystrophy (HP:0000548) | 5.03489820 |
| 2 | Joint hemorrhage (HP:0005261) | 4.58619897 |
| 3 | Severe visual impairment (HP:0001141) | 4.54809773 |
| 4 | Abnormality of the intrinsic pathway (HP:0010989) | 4.53180994 |
| 5 | Abnormality of the parathyroid morphology (HP:0011766) | 4.46733194 |
| 6 | Prolonged partial thromboplastin time (HP:0003645) | 4.37606862 |
| 7 | Absent/shortened dynein arms (HP:0200106) | 4.29123489 |
| 8 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 4.29123489 |
| 9 | Abnormality of macular pigmentation (HP:0008002) | 4.00479918 |
| 10 | Midline defect of the nose (HP:0004122) | 3.95294306 |
| 11 | Meningioma (HP:0002858) | 3.92861531 |
| 12 | Attenuation of retinal blood vessels (HP:0007843) | 3.92616361 |
| 13 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.90502502 |
| 14 | Abnormal ciliary motility (HP:0012262) | 3.54778012 |
| 15 | Chronic hepatic failure (HP:0100626) | 3.49023038 |
| 16 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.43800343 |
| 17 | Aqueductal stenosis (HP:0002410) | 3.34066724 |
| 18 | Ulnar claw (HP:0001178) | 3.31573379 |
| 19 | Abnormality of the astrocytes (HP:0100707) | 3.29377755 |
| 20 | Astrocytoma (HP:0009592) | 3.29377755 |
| 21 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.25133023 |
| 22 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.25133023 |
| 23 | Male infertility (HP:0003251) | 3.21142605 |
| 24 | Rhabdomyosarcoma (HP:0002859) | 3.12638263 |
| 25 | Resting tremor (HP:0002322) | 3.09355514 |
| 26 | Abnormality of the nasal septum (HP:0000419) | 3.06625974 |
| 27 | Action tremor (HP:0002345) | 3.04457671 |
| 28 | Decreased central vision (HP:0007663) | 3.02965404 |
| 29 | Tubulointerstitial nephritis (HP:0001970) | 3.02038549 |
| 30 | Portal hypertension (HP:0001409) | 3.01216761 |
| 31 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.98973648 |
| 32 | Potter facies (HP:0002009) | 2.92956109 |
| 33 | Facial shape deformation (HP:0011334) | 2.92956109 |
| 34 | Asymmetric septal hypertrophy (HP:0001670) | 2.88834995 |
| 35 | Glioma (HP:0009733) | 2.88718003 |
| 36 | Rhinitis (HP:0012384) | 2.80602420 |
| 37 | Neoplasm of striated muscle (HP:0009728) | 2.72112804 |
| 38 | Abnormality of the hepatic vasculature (HP:0006707) | 2.71700265 |
| 39 | Infertility (HP:0000789) | 2.52149871 |
| 40 | Enlarged epiphyses (HP:0010580) | 2.42141867 |
| 41 | Bulbous nose (HP:0000414) | 2.42137983 |
| 42 | Hyperkalemia (HP:0002153) | 2.39991710 |
| 43 | Oligodontia (HP:0000677) | 2.38292356 |
| 44 | Pendular nystagmus (HP:0012043) | 2.34593201 |
| 45 | Neoplasm of the peripheral nervous system (HP:0100007) | 2.33795523 |
| 46 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.31931742 |
| 47 | Esophageal varix (HP:0002040) | 2.31370334 |
| 48 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.30645811 |
| 49 | Neuroendocrine neoplasm (HP:0100634) | 2.30205110 |
| 50 | Benign neoplasm of the central nervous system (HP:0100835) | 2.28888103 |
| 51 | Hypoplastic ischia (HP:0003175) | 2.23139284 |
| 52 | Scotoma (HP:0000575) | 2.20504388 |
| 53 | Pheochromocytoma (HP:0002666) | 2.18990627 |
| 54 | Abnormality of the nasal mucosa (HP:0000433) | 2.17751043 |
| 55 | Overgrowth (HP:0001548) | 2.13733767 |
| 56 | Progressive cerebellar ataxia (HP:0002073) | 2.13295845 |
| 57 | Abnormal spermatogenesis (HP:0008669) | 2.12810023 |
| 58 | Hyperglycinuria (HP:0003108) | 2.10162183 |
| 59 | Abnormality of the ischium (HP:0003174) | 2.09949046 |
| 60 | Conical tooth (HP:0000698) | 2.08121826 |
| 61 | Nuclear cataract (HP:0100018) | 2.08036395 |
| 62 | Nephronophthisis (HP:0000090) | 2.07548176 |
| 63 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.07372333 |
| 64 | Azoospermia (HP:0000027) | 2.05993914 |
| 65 | Nasal polyposis (HP:0100582) | 2.03313113 |
| 66 | Generalized aminoaciduria (HP:0002909) | 1.94715434 |
| 67 | Progressive sensorineural hearing impairment (HP:0000408) | 1.94011049 |
| 68 | Abnormality of the renal medulla (HP:0100957) | 1.93502184 |
| 69 | Insidious onset (HP:0003587) | 1.93210149 |
| 70 | Termporal pattern (HP:0011008) | 1.93210149 |
| 71 | Volvulus (HP:0002580) | 1.91086565 |
| 72 | Postural instability (HP:0002172) | 1.90849993 |
| 73 | Abnormal albumin level (HP:0012116) | 1.90813375 |
| 74 | Hypoalbuminemia (HP:0003073) | 1.90813375 |
| 75 | Abnormal urine output (HP:0012590) | 1.89208687 |
| 76 | Atonic seizures (HP:0010819) | 1.89114212 |
| 77 | Congenital malformation of the right heart (HP:0011723) | 1.87255957 |
| 78 | Double outlet right ventricle (HP:0001719) | 1.87255957 |
| 79 | Abnormality of chromosome segregation (HP:0002916) | 1.86952983 |
| 80 | Congenital stationary night blindness (HP:0007642) | 1.86154746 |
| 81 | Medial flaring of the eyebrow (HP:0010747) | 1.85520198 |
| 82 | Polydipsia (HP:0001959) | 1.84630653 |
| 83 | Abnormal drinking behavior (HP:0030082) | 1.84630653 |
| 84 | Impulsivity (HP:0100710) | 1.83929084 |
| 85 | Genital tract atresia (HP:0001827) | 1.83924449 |
| 86 | Paraparesis (HP:0002385) | 1.82074920 |
| 87 | Osteomalacia (HP:0002749) | 1.80618247 |
| 88 | Retinal dysplasia (HP:0007973) | 1.79969630 |
| 89 | Intellectual disability, moderate (HP:0002342) | 1.78766539 |
| 90 | Hypoplasia of the thymus (HP:0000778) | 1.78281638 |
| 91 | Chronic sinusitis (HP:0011109) | 1.77674115 |
| 92 | Fibrous tissue neoplasm (HP:0012316) | 1.77430910 |
| 93 | Neoplasm of the oral cavity (HP:0100649) | 1.76908549 |
| 94 | Stage 5 chronic kidney disease (HP:0003774) | 1.75686446 |
| 95 | Congenital sensorineural hearing impairment (HP:0008527) | 1.75225138 |
| 96 | Increased purine levels (HP:0004368) | 1.75223964 |
| 97 | Hyperuricemia (HP:0002149) | 1.75223964 |
| 98 | Pancreatic cysts (HP:0001737) | 1.74231787 |
| 99 | Curly hair (HP:0002212) | 1.73208709 |
| 100 | Sensory axonal neuropathy (HP:0003390) | 1.72799108 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | WNK3 | 6.11545329 |
| 2 | PLK4 | 5.26884863 |
| 3 | PNCK | 4.32145461 |
| 4 | STK38 | 3.16998364 |
| 5 | TESK1 | 2.95006417 |
| 6 | INSRR | 2.64917568 |
| 7 | STK38L | 2.54431292 |
| 8 | PINK1 | 2.42910647 |
| 9 | FRK | 2.39266744 |
| 10 | CAMK1G | 2.31777494 |
| 11 | DDR2 | 2.31397391 |
| 12 | PRKD3 | 2.26798517 |
| 13 | TNIK | 2.19061682 |
| 14 | BRD4 | 2.10222410 |
| 15 | MARK1 | 2.04253991 |
| 16 | NUAK1 | 2.00680763 |
| 17 | PDGFRA | 1.97083678 |
| 18 | NTRK3 | 1.96792414 |
| 19 | PLK2 | 1.93877541 |
| 20 | MAP4K2 | 1.83316711 |
| 21 | PIK3CG | 1.82266276 |
| 22 | TIE1 | 1.68693174 |
| 23 | MAPK13 | 1.52769941 |
| 24 | MAP3K13 | 1.42592293 |
| 25 | SIK2 | 1.38335264 |
| 26 | MAP3K4 | 1.29670229 |
| 27 | PTK2B | 1.25459895 |
| 28 | CAMK1 | 1.23575646 |
| 29 | MYLK | 1.22685596 |
| 30 | CASK | 1.17785013 |
| 31 | PKN1 | 1.15811892 |
| 32 | MAP2K7 | 1.14792470 |
| 33 | KSR2 | 1.13953015 |
| 34 | MAP3K6 | 1.11381186 |
| 35 | ROCK1 | 1.02356245 |
| 36 | MAPK15 | 1.00229471 |
| 37 | MKNK2 | 0.90658745 |
| 38 | PRKAA2 | 0.89714201 |
| 39 | MAP3K12 | 0.88661029 |
| 40 | BRSK2 | 0.87038984 |
| 41 | YES1 | 0.81784110 |
| 42 | NEK6 | 0.78309195 |
| 43 | SGK2 | 0.76707835 |
| 44 | RPS6KA4 | 0.75274286 |
| 45 | TYRO3 | 0.75027958 |
| 46 | PDGFRB | 0.71620665 |
| 47 | MAP3K2 | 0.71492975 |
| 48 | DYRK2 | 0.64559291 |
| 49 | SGK494 | 0.63767425 |
| 50 | SGK223 | 0.63767425 |
| 51 | CAMK4 | 0.62151936 |
| 52 | WNK1 | 0.62044269 |
| 53 | BMPR1B | 0.60969951 |
| 54 | WNK4 | 0.60079372 |
| 55 | TRIM28 | 0.57673531 |
| 56 | STK39 | 0.52853069 |
| 57 | FES | 0.52518683 |
| 58 | DAPK2 | 0.49206680 |
| 59 | NLK | 0.48647240 |
| 60 | TRPM7 | 0.47970576 |
| 61 | PRKG1 | 0.47638085 |
| 62 | WEE1 | 0.45825464 |
| 63 | PDK1 | 0.42691516 |
| 64 | KIT | 0.40969596 |
| 65 | UHMK1 | 0.40631833 |
| 66 | ROCK2 | 0.40607591 |
| 67 | GSK3B | 0.40121233 |
| 68 | BRSK1 | 0.38405409 |
| 69 | PRKCG | 0.38245537 |
| 70 | PDPK1 | 0.37274691 |
| 71 | STK11 | 0.36926012 |
| 72 | RPS6KA2 | 0.35429746 |
| 73 | ADRBK2 | 0.33588574 |
| 74 | CDK4 | 0.33240349 |
| 75 | GRK1 | 0.31591646 |
| 76 | ADRBK1 | 0.31043616 |
| 77 | NTRK1 | 0.30626941 |
| 78 | MAPK14 | 0.30620538 |
| 79 | CCNB1 | 0.30303763 |
| 80 | DYRK3 | 0.29923454 |
| 81 | CDK7 | 0.28836192 |
| 82 | SGK1 | 0.28220306 |
| 83 | CAMK2A | 0.27188095 |
| 84 | PRKCE | 0.26896225 |
| 85 | SGK3 | 0.26631066 |
| 86 | PRKCB | 0.26576102 |
| 87 | NEK2 | 0.26534897 |
| 88 | PRKG2 | 0.26099640 |
| 89 | VRK1 | 0.24799550 |
| 90 | PRKD2 | 0.24655422 |
| 91 | CDK1 | 0.23867748 |
| 92 | KSR1 | 0.22118412 |
| 93 | MAPK8 | 0.22074945 |
| 94 | CAMK1D | 0.21754707 |
| 95 | CDK5 | 0.21406061 |
| 96 | MINK1 | 0.21316019 |
| 97 | MAP3K9 | 0.20489126 |
| 98 | MAPK1 | 0.19843079 |
| 99 | PRKD1 | 0.18452117 |
| 100 | MST1R | 0.17729346 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 6.94983848 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 4.95707549 |
| 3 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.88631050 |
| 4 | Olfactory transduction_Homo sapiens_hsa04740 | 2.60179296 |
| 5 | Fatty acid metabolism_Homo sapiens_hsa01212 | 2.37547490 |
| 6 | Taste transduction_Homo sapiens_hsa04742 | 2.21168519 |
| 7 | PPAR signaling pathway_Homo sapiens_hsa03320 | 2.21007276 |
| 8 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.80525655 |
| 9 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.77706618 |
| 10 | Morphine addiction_Homo sapiens_hsa05032 | 1.73364164 |
| 11 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.70174635 |
| 12 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.62357571 |
| 13 | Circadian entrainment_Homo sapiens_hsa04713 | 1.50846275 |
| 14 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 1.48897745 |
| 15 | Circadian rhythm_Homo sapiens_hsa04710 | 1.47732422 |
| 16 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.46585608 |
| 17 | Phototransduction_Homo sapiens_hsa04744 | 1.44035300 |
| 18 | Nicotine addiction_Homo sapiens_hsa05033 | 1.42782335 |
| 19 | RNA transport_Homo sapiens_hsa03013 | 1.42420959 |
| 20 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.41373944 |
| 21 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.37104270 |
| 22 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.36492338 |
| 23 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.27571940 |
| 24 | Renin secretion_Homo sapiens_hsa04924 | 1.16564238 |
| 25 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.16141590 |
| 26 | GABAergic synapse_Homo sapiens_hsa04727 | 1.13289601 |
| 27 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.08859701 |
| 28 | Long-term depression_Homo sapiens_hsa04730 | 1.07856431 |
| 29 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.04660752 |
| 30 | Non-homologous end-joining_Homo sapiens_hsa03450 | 1.04458579 |
| 31 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.01425488 |
| 32 | cAMP signaling pathway_Homo sapiens_hsa04024 | 1.01299928 |
| 33 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.98694454 |
| 34 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.93758272 |
| 35 | Cocaine addiction_Homo sapiens_hsa05030 | 0.91340828 |
| 36 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.90960913 |
| 37 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.90185143 |
| 38 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.89388567 |
| 39 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 0.89291162 |
| 40 | Gap junction_Homo sapiens_hsa04540 | 0.89185050 |
| 41 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.86655887 |
| 42 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.86266574 |
| 43 | ABC transporters_Homo sapiens_hsa02010 | 0.86170840 |
| 44 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.81578318 |
| 45 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.81210791 |
| 46 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.77248503 |
| 47 | Propanoate metabolism_Homo sapiens_hsa00640 | 0.76556073 |
| 48 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.74867544 |
| 49 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.74118041 |
| 50 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.74107468 |
| 51 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.72991422 |
| 52 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.71840453 |
| 53 | Platelet activation_Homo sapiens_hsa04611 | 0.71087000 |
| 54 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.71076329 |
| 55 | Salivary secretion_Homo sapiens_hsa04970 | 0.70769916 |
| 56 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.69981107 |
| 57 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 0.68148445 |
| 58 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.67557367 |
| 59 | Axon guidance_Homo sapiens_hsa04360 | 0.66911256 |
| 60 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.65571361 |
| 61 | Tight junction_Homo sapiens_hsa04530 | 0.64483397 |
| 62 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.61857467 |
| 63 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.60341658 |
| 64 | RNA degradation_Homo sapiens_hsa03018 | 0.60247679 |
| 65 | Endocytosis_Homo sapiens_hsa04144 | 0.59163898 |
| 66 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.58670329 |
| 67 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.57731086 |
| 68 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.57668073 |
| 69 | Focal adhesion_Homo sapiens_hsa04510 | 0.56605716 |
| 70 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.56597135 |
| 71 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.55190803 |
| 72 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.52705346 |
| 73 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.50757493 |
| 74 | Mismatch repair_Homo sapiens_hsa03430 | 0.50609665 |
| 75 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.48129583 |
| 76 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.47392409 |
| 77 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.47364489 |
| 78 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.46134596 |
| 79 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.46028646 |
| 80 | Long-term potentiation_Homo sapiens_hsa04720 | 0.45209213 |
| 81 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.41986789 |
| 82 | Insulin secretion_Homo sapiens_hsa04911 | 0.41377765 |
| 83 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.41088912 |
| 84 | Ras signaling pathway_Homo sapiens_hsa04014 | 0.40504087 |
| 85 | Homologous recombination_Homo sapiens_hsa03440 | 0.38762550 |
| 86 | Alcoholism_Homo sapiens_hsa05034 | 0.38420811 |
| 87 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.38081289 |
| 88 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.37580142 |
| 89 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.37152680 |
| 90 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.36884212 |
| 91 | Basal transcription factors_Homo sapiens_hsa03022 | 0.36620911 |
| 92 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.36557218 |
| 93 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.36528812 |
| 94 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.36080445 |
| 95 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 0.35477040 |
| 96 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.33388640 |
| 97 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.33189360 |
| 98 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.32916706 |
| 99 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.31477289 |
| 100 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.29412756 |

