

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm motility (GO:0030317) | 9.55811207 |
| 2 | fusion of sperm to egg plasma membrane (GO:0007342) | 8.66784978 |
| 3 | chromosome condensation (GO:0030261) | 8.19231759 |
| 4 | microtubule depolymerization (GO:0007019) | 8.00870304 |
| 5 | DNA packaging (GO:0006323) | 7.94692446 |
| 6 | sperm capacitation (GO:0048240) | 7.40159168 |
| 7 | binding of sperm to zona pellucida (GO:0007339) | 7.37322953 |
| 8 | sperm-egg recognition (GO:0035036) | 7.30611182 |
| 9 | spermatid development (GO:0007286) | 7.13446231 |
| 10 | nuclear pore complex assembly (GO:0051292) | 7.11761658 |
| 11 | multicellular organism reproduction (GO:0032504) | 6.71984263 |
| 12 | plasma membrane fusion (GO:0045026) | 6.51666752 |
| 13 | spermatid nucleus differentiation (GO:0007289) | 6.33565259 |
| 14 | rRNA methylation (GO:0031167) | 6.26695971 |
| 15 | microtubule polymerization or depolymerization (GO:0031109) | 6.26412841 |
| 16 | cell-cell recognition (GO:0009988) | 6.09268708 |
| 17 | response to pheromone (GO:0019236) | 5.99946879 |
| 18 | reproduction (GO:0000003) | 5.98651626 |
| 19 | nuclear pore organization (GO:0006999) | 5.93943781 |
| 20 | pore complex assembly (GO:0046931) | 5.52476334 |
| 21 | protein-DNA complex disassembly (GO:0032986) | 5.44500033 |
| 22 | nucleosome disassembly (GO:0006337) | 5.44500033 |
| 23 | single strand break repair (GO:0000012) | 5.41410564 |
| 24 | motile cilium assembly (GO:0044458) | 5.34277580 |
| 25 | centriole assembly (GO:0098534) | 5.18437964 |
| 26 | male meiosis (GO:0007140) | 5.13125893 |
| 27 | axonemal dynein complex assembly (GO:0070286) | 5.13111580 |
| 28 | rRNA modification (GO:0000154) | 5.12485930 |
| 29 | centriole replication (GO:0007099) | 5.10591751 |
| 30 | protein targeting to Golgi (GO:0000042) | 5.09646113 |
| 31 | calcium ion-dependent exocytosis (GO:0017156) | 5.05112294 |
| 32 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 4.99648680 |
| 33 | negative regulation of inclusion body assembly (GO:0090084) | 4.94714137 |
| 34 | establishment of protein localization to Golgi (GO:0072600) | 4.88446577 |
| 35 | synapsis (GO:0007129) | 4.88336740 |
| 36 | sexual reproduction (GO:0019953) | 4.86678135 |
| 37 | regulation of centriole replication (GO:0046599) | 4.86621918 |
| 38 | spermatogenesis (GO:0007283) | 4.75062921 |
| 39 | male gamete generation (GO:0048232) | 4.74458974 |
| 40 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 4.73558708 |
| 41 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 4.64648611 |
| 42 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 4.63587411 |
| 43 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.58495324 |
| 44 | phosphatidylethanolamine metabolic process (GO:0046337) | 4.55941600 |
| 45 | single fertilization (GO:0007338) | 4.47626697 |
| 46 | regulation of histone H3-K27 methylation (GO:0061085) | 4.37364214 |
| 47 | gamete generation (GO:0007276) | 4.33977952 |
| 48 | DNA methylation involved in gamete generation (GO:0043046) | 4.22402045 |
| 49 | organic cation transport (GO:0015695) | 4.12297438 |
| 50 | germ cell development (GO:0007281) | 4.09568037 |
| 51 | histone H3-K9 demethylation (GO:0033169) | 4.08413886 |
| 52 | nucleus organization (GO:0006997) | 4.01159148 |
| 53 | coenzyme catabolic process (GO:0009109) | 3.93754524 |
| 54 | estrogen biosynthetic process (GO:0006703) | 3.92493239 |
| 55 | diterpenoid biosynthetic process (GO:0016102) | 3.87541299 |
| 56 | resolution of meiotic recombination intermediates (GO:0000712) | 3.86373004 |
| 57 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 3.81201430 |
| 58 | protein polyglutamylation (GO:0018095) | 3.79333774 |
| 59 | cellular ketone body metabolic process (GO:0046950) | 3.72867604 |
| 60 | fertilization (GO:0009566) | 3.70854412 |
| 61 | polyamine biosynthetic process (GO:0006596) | 3.70017820 |
| 62 | protein localization to Golgi apparatus (GO:0034067) | 3.69755198 |
| 63 | DNA conformation change (GO:0071103) | 3.67368991 |
| 64 | microtubule severing (GO:0051013) | 3.63382511 |
| 65 | regulation of Rab GTPase activity (GO:0032313) | 3.58678532 |
| 66 | positive regulation of Rab GTPase activity (GO:0032851) | 3.58678532 |
| 67 | negative regulation of histone methylation (GO:0031061) | 3.58163438 |
| 68 | chromatin silencing (GO:0006342) | 3.52321259 |
| 69 | histone exchange (GO:0043486) | 3.49911726 |
| 70 | multicellular organismal reproductive process (GO:0048609) | 3.47149474 |
| 71 | regulation of inclusion body assembly (GO:0090083) | 3.35034752 |
| 72 | chromosome organization involved in meiosis (GO:0070192) | 3.33203931 |
| 73 | potassium ion export (GO:0071435) | 3.31152974 |
| 74 | regulation of translational fidelity (GO:0006450) | 3.28501396 |
| 75 | ketone body metabolic process (GO:1902224) | 3.25497057 |
| 76 | face development (GO:0060324) | 3.24413833 |
| 77 | male meiosis I (GO:0007141) | 3.17834894 |
| 78 | regulation of cilium movement (GO:0003352) | 3.17292771 |
| 79 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 3.16218270 |
| 80 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.14691912 |
| 81 | response to vitamin A (GO:0033189) | 3.11810276 |
| 82 | ribosome assembly (GO:0042255) | 3.08060750 |
| 83 | protein depolymerization (GO:0051261) | 3.07646353 |
| 84 | regulation of histone H3-K4 methylation (GO:0051569) | 3.07226179 |
| 85 | epithelial cilium movement (GO:0003351) | 3.05785634 |
| 86 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.05607975 |
| 87 | mitotic nuclear envelope disassembly (GO:0007077) | 3.03222729 |
| 88 | terpenoid biosynthetic process (GO:0016114) | 2.98899108 |
| 89 | intra-S DNA damage checkpoint (GO:0031573) | 2.93996810 |
| 90 | regulation of histone H3-K9 methylation (GO:0051570) | 2.93715891 |
| 91 | detection of chemical stimulus involved in sensory perception (GO:0050907) | 2.92349318 |
| 92 | membrane disassembly (GO:0030397) | 2.90010052 |
| 93 | nuclear envelope disassembly (GO:0051081) | 2.90010052 |
| 94 | DNA replication checkpoint (GO:0000076) | 2.89786109 |
| 95 | definitive hemopoiesis (GO:0060216) | 2.84036535 |
| 96 | meiotic nuclear division (GO:0007126) | 2.83562478 |
| 97 | ventricular system development (GO:0021591) | 2.83451545 |
| 98 | glycerol ether metabolic process (GO:0006662) | 2.80123118 |
| 99 | seminiferous tubule development (GO:0072520) | 2.77815313 |
| 100 | acrosome reaction (GO:0007340) | 10.0883939 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E2F7_22180533_ChIP-Seq_HELA_Human | 5.74927692 |
| 2 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 3.69522076 |
| 3 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.63137499 |
| 4 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.60031384 |
| 5 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.38750770 |
| 6 | GATA1_19941826_ChIP-Seq_K562_Human | 2.79684041 |
| 7 | GATA1_22025678_ChIP-Seq_K562_Human | 2.76044252 |
| 8 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.47591403 |
| 9 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.31540839 |
| 10 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 2.19052605 |
| 11 | RAC3_21632823_ChIP-Seq_H3396_Human | 2.15084876 |
| 12 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 2.13577560 |
| 13 | NCOR1_26117541_ChIP-Seq_K562_Human | 2.12561282 |
| 14 | FUS_26573619_Chip-Seq_HEK293_Human | 2.10477790 |
| 15 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.06622758 |
| 16 | PHF8_20622853_ChIP-Seq_HELA_Human | 2.04522429 |
| 17 | RBPJ_21746931_ChIP-Seq_IB4_Human | 2.03485451 |
| 18 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.99750630 |
| 19 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.99268728 |
| 20 | NFYB_21822215_ChIP-Seq_K562_Human | 1.98504011 |
| 21 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.98154084 |
| 22 | EGR1_19374776_ChIP-ChIP_THP-1_Human | 1.97837934 |
| 23 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.97020499 |
| 24 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.94967189 |
| 25 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.93880694 |
| 26 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.93880694 |
| 27 | GATA2_19941826_ChIP-Seq_K562_Human | 1.92486820 |
| 28 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.91275216 |
| 29 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.90048923 |
| 30 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.89803106 |
| 31 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.89049281 |
| 32 | TBL1_22424771_ChIP-Seq_293T_Human | 1.85681300 |
| 33 | ERA_21632823_ChIP-Seq_H3396_Human | 1.82479851 |
| 34 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.79458805 |
| 35 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.79458805 |
| 36 | SPI1_23127762_ChIP-Seq_K562_Human | 1.77924140 |
| 37 | NFYA_21822215_ChIP-Seq_K562_Human | 1.68442084 |
| 38 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.67773604 |
| 39 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.67645824 |
| 40 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.66278077 |
| 41 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.62192239 |
| 42 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.61091980 |
| 43 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.60536296 |
| 44 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.60166257 |
| 45 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.58973589 |
| 46 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.58281348 |
| 47 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.55788956 |
| 48 | VDR_22108803_ChIP-Seq_LS180_Human | 1.50811323 |
| 49 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.48797714 |
| 50 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.48419714 |
| 51 | * SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.47707233 |
| 52 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.46257707 |
| 53 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.44625066 |
| 54 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.43747574 |
| 55 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.43699470 |
| 56 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.39925319 |
| 57 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.39873095 |
| 58 | * P300_27268052_Chip-Seq_Bcells_Human | 1.39789033 |
| 59 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.35624247 |
| 60 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.35406626 |
| 61 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.34242621 |
| 62 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.31484756 |
| 63 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.31447058 |
| 64 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.31193222 |
| 65 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.29267636 |
| 66 | P68_20966046_ChIP-Seq_HELA_Human | 1.26131043 |
| 67 | HCFC1_20581084_ChIP-Seq_MESCs_Mouse | 1.26075274 |
| 68 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.26060993 |
| 69 | POU5F1_18555785_ChIP-Seq_MESCs_Mouse | 1.25802532 |
| 70 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.25625236 |
| 71 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.25166655 |
| 72 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.24743661 |
| 73 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.24458155 |
| 74 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.24353178 |
| 75 | SALL4_22934838_ChIP-ChIP_CD34+_Human | 1.15509863 |
| 76 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.12375851 |
| 77 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.12035476 |
| 78 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.11272799 |
| 79 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.10496658 |
| 80 | SPI1_20517297_ChIP-Seq_HL60_Human | 1.07652814 |
| 81 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.06263269 |
| 82 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.04995265 |
| 83 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.04097136 |
| 84 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.03806908 |
| 85 | * E2F1_17053090_ChIP-ChIP_MCF-7_Human | 1.03288495 |
| 86 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.01573506 |
| 87 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.00386175 |
| 88 | SA1_27219007_Chip-Seq_Bcells_Human | 0.99414590 |
| 89 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 0.98655257 |
| 90 | MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human | 0.98622689 |
| 91 | CTCF_21964334_Chip-Seq_Bcells_Human | 0.97828597 |
| 92 | GATA3_26560356_Chip-Seq_TH1_Human | 0.96552891 |
| 93 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 0.96502102 |
| 94 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 0.96335275 |
| 95 | MYB_26560356_Chip-Seq_TH1_Human | 0.95330306 |
| 96 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 0.95187391 |
| 97 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 0.94868816 |
| 98 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 0.93938627 |
| 99 | GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 0.93014778 |
| 100 | KDM5A_27292631_Chip-Seq_BREAST_Human | 0.90252274 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0009697_abnormal_copulation | 4.53737333 |
| 2 | MP0003698_abnormal_male_reproductive | 4.20369507 |
| 3 | MP0001929_abnormal_gametogenesis | 4.07857626 |
| 4 | MP0000678_abnormal_parathyroid_gland | 3.64186062 |
| 5 | MP0005451_abnormal_body_composition | 3.00556986 |
| 6 | MP0008995_early_reproductive_senescence | 2.83975052 |
| 7 | MP0002132_abnormal_respiratory_system | 2.73231590 |
| 8 | MP0003718_maternal_effect | 2.59079182 |
| 9 | MP0005377_hearing/vestibular/ear_phenot | 2.45527191 |
| 10 | MP0003878_abnormal_ear_physiology | 2.45527191 |
| 11 | MP0004957_abnormal_blastocyst_morpholog | 2.40660955 |
| 12 | MP0002161_abnormal_fertility/fecundity | 2.35881797 |
| 13 | MP0002210_abnormal_sex_determination | 2.34917211 |
| 14 | MP0001348_abnormal_lacrimal_gland | 2.24319419 |
| 15 | MP0003693_abnormal_embryo_hatching | 2.09354384 |
| 16 | MP0005410_abnormal_fertilization | 10.5642010 |
| 17 | MP0008057_abnormal_DNA_replication | 1.99038733 |
| 18 | MP0005670_abnormal_white_adipose | 1.87008663 |
| 19 | MP0001145_abnormal_male_reproductive | 1.80470157 |
| 20 | MP0008058_abnormal_DNA_repair | 1.73520483 |
| 21 | MP0000653_abnormal_sex_gland | 1.69709229 |
| 22 | MP0003077_abnormal_cell_cycle | 1.64418303 |
| 23 | MP0003646_muscle_fatigue | 1.62457151 |
| 24 | MP0002249_abnormal_larynx_morphology | 1.61791019 |
| 25 | MP0004147_increased_porphyrin_level | 1.56714692 |
| 26 | MP0010094_abnormal_chromosome_stability | 1.49824315 |
| 27 | MP0004084_abnormal_cardiac_muscle | 1.45877003 |
| 28 | MP0005083_abnormal_biliary_tract | 1.43885820 |
| 29 | MP0010307_abnormal_tumor_latency | 1.41901888 |
| 30 | MP0005647_abnormal_sex_gland | 1.39555137 |
| 31 | MP0008932_abnormal_embryonic_tissue | 1.33759425 |
| 32 | MP0001661_extended_life_span | 1.22830300 |
| 33 | MP0005379_endocrine/exocrine_gland_phen | 1.20935623 |
| 34 | MP0008004_abnormal_stomach_pH | 1.20105377 |
| 35 | MP0009115_abnormal_fat_cell | 1.19996839 |
| 36 | MP0008007_abnormal_cellular_replicative | 1.19972894 |
| 37 | MP0003111_abnormal_nucleus_morphology | 1.18388777 |
| 38 | MP0004233_abnormal_muscle_weight | 1.18222022 |
| 39 | MP0004036_abnormal_muscle_relaxation | 1.17342755 |
| 40 | MP0005395_other_phenotype | 1.04439590 |
| 41 | MP0003315_abnormal_perineum_morphology | 1.02663519 |
| 42 | MP0003959_abnormal_lean_body | 1.00794668 |
| 43 | MP0002160_abnormal_reproductive_system | 1.00651564 |
| 44 | MP0005636_abnormal_mineral_homeostasis | 0.99383094 |
| 45 | MP0004085_abnormal_heartbeat | 0.98474278 |
| 46 | MP0008877_abnormal_DNA_methylation | 0.97111140 |
| 47 | MP0003786_premature_aging | 0.96320988 |
| 48 | MP0003656_abnormal_erythrocyte_physiolo | 0.94960058 |
| 49 | MP0005397_hematopoietic_system_phenotyp | 0.91279599 |
| 50 | MP0001545_abnormal_hematopoietic_system | 0.91279599 |
| 51 | MP0000681_abnormal_thyroid_gland | 0.89430648 |
| 52 | MP0003936_abnormal_reproductive_system | 0.88749082 |
| 53 | MP0001919_abnormal_reproductive_system | 0.86866708 |
| 54 | MP0002282_abnormal_trachea_morphology | 0.84948723 |
| 55 | MP0003385_abnormal_body_wall | 0.84402913 |
| 56 | MP0005253_abnormal_eye_physiology | 0.84234545 |
| 57 | MP0006036_abnormal_mitochondrial_physio | 0.83509772 |
| 58 | MP0003699_abnormal_female_reproductive | 0.82150443 |
| 59 | MP0000313_abnormal_cell_death | 0.80428951 |
| 60 | MP0002269_muscular_atrophy | 0.79860881 |
| 61 | MP0005389_reproductive_system_phenotype | 0.78378531 |
| 62 | MP0001764_abnormal_homeostasis | 0.77478848 |
| 63 | MP0002080_prenatal_lethality | 0.72592597 |
| 64 | MP0001765_abnormal_ion_homeostasis | 0.69852949 |
| 65 | MP0008775_abnormal_heart_ventricle | 0.69572834 |
| 66 | MP0002127_abnormal_cardiovascular_syste | 0.68556036 |
| 67 | MP0002234_abnormal_pharynx_morphology | 0.68172343 |
| 68 | MP0003045_fibrosis | 0.68114341 |
| 69 | MP0005408_hypopigmentation | 0.64064621 |
| 70 | MP0003950_abnormal_plasma_membrane | 0.63767873 |
| 71 | MP0004145_abnormal_muscle_electrophysio | 0.63667065 |
| 72 | MP0000703_abnormal_thymus_morphology | 0.62911570 |
| 73 | MP0006035_abnormal_mitochondrial_morpho | 0.62247892 |
| 74 | MP0002086_abnormal_extraembryonic_tissu | 0.60139464 |
| 75 | MP0003879_abnormal_hair_cell | 0.57549605 |
| 76 | MP0005666_abnormal_adipose_tissue | 0.56193592 |
| 77 | MP0002138_abnormal_hepatobiliary_system | 0.55835697 |
| 78 | MP0008770_decreased_survivor_rate | 0.55650386 |
| 79 | MP0001730_embryonic_growth_arrest | 0.55385113 |
| 80 | MP0000350_abnormal_cell_proliferation | 0.54062768 |
| 81 | MP0001672_abnormal_embryogenesis/_devel | 0.53674774 |
| 82 | MP0005380_embryogenesis_phenotype | 0.53674774 |
| 83 | MP0004782_abnormal_surfactant_physiolog | 0.53271066 |
| 84 | MP0006276_abnormal_autonomic_nervous | 0.53141625 |
| 85 | MP0005535_abnormal_body_temperature | 0.52961478 |
| 86 | MP0001697_abnormal_embryo_size | 0.50896173 |
| 87 | MP0001727_abnormal_embryo_implantation | 0.49986195 |
| 88 | MP0001119_abnormal_female_reproductive | 0.49919153 |
| 89 | MP0002638_abnormal_pupillary_reflex | 0.48846926 |
| 90 | MP0002085_abnormal_embryonic_tissue | 0.47668208 |
| 91 | MP0004134_abnormal_chest_morphology | 0.47187982 |
| 92 | MP0005167_abnormal_blood-brain_barrier | 0.45727860 |
| 93 | MP0000609_abnormal_liver_physiology | 0.43948253 |
| 94 | MP0005334_abnormal_fat_pad | 0.43944119 |
| 95 | MP0002229_neurodegeneration | 0.42893418 |
| 96 | MP0002084_abnormal_developmental_patter | 0.41955922 |
| 97 | MP0005310_abnormal_salivary_gland | 0.41854934 |
| 98 | MP0002398_abnormal_bone_marrow | 0.41721818 |
| 99 | MP0004808_abnormal_hematopoietic_stem | 0.40904064 |
| 100 | MP0002722_abnormal_immune_system | 0.39409820 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.00151345 |
| 2 | Absent/shortened dynein arms (HP:0200106) | 5.00151345 |
| 3 | Severe visual impairment (HP:0001141) | 4.98016362 |
| 4 | Truncus arteriosus (HP:0001660) | 4.79316424 |
| 5 | Resting tremor (HP:0002322) | 4.56572829 |
| 6 | Upper limb muscle weakness (HP:0003484) | 4.08835862 |
| 7 | Abnormal ciliary motility (HP:0012262) | 3.99633721 |
| 8 | Abnormal gallbladder physiology (HP:0012438) | 3.93574992 |
| 9 | Cholecystitis (HP:0001082) | 3.93574992 |
| 10 | Hyperthyroidism (HP:0000836) | 3.88931398 |
| 11 | Abnormal respiratory motile cilium physiology (HP:0012261) | 3.85214551 |
| 12 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.81770036 |
| 13 | Male infertility (HP:0003251) | 3.80998585 |
| 14 | Bowel incontinence (HP:0002607) | 3.77233462 |
| 15 | Infertility (HP:0000789) | 3.76394792 |
| 16 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.57082618 |
| 17 | Polycythemia (HP:0001901) | 3.56794997 |
| 18 | Abnormal large intestine physiology (HP:0012700) | 3.49565484 |
| 19 | Ankyloglossia (HP:0010296) | 3.41501428 |
| 20 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.37733095 |
| 21 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.37733095 |
| 22 | Reticulocytosis (HP:0001923) | 3.36239140 |
| 23 | Postural instability (HP:0002172) | 3.35895859 |
| 24 | Attenuation of retinal blood vessels (HP:0007843) | 3.34790530 |
| 25 | Tubulointerstitial nephritis (HP:0001970) | 3.34656200 |
| 26 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.26614789 |
| 27 | Nasal polyposis (HP:0100582) | 3.25565555 |
| 28 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.22867306 |
| 29 | Bell-shaped thorax (HP:0001591) | 3.01549640 |
| 30 | Hypoparathyroidism (HP:0000829) | 2.92510451 |
| 31 | Seborrheic dermatitis (HP:0001051) | 2.86499720 |
| 32 | Peripheral hypomyelination (HP:0007182) | 2.80261357 |
| 33 | Atelectasis (HP:0100750) | 2.73980874 |
| 34 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.70175123 |
| 35 | Acute myeloid leukemia (HP:0004808) | 2.68212214 |
| 36 | Hyperkalemia (HP:0002153) | 2.65624966 |
| 37 | Sandal gap (HP:0001852) | 2.62964982 |
| 38 | Colitis (HP:0002583) | 2.57002549 |
| 39 | Abnormality of the nasal mucosa (HP:0000433) | 2.55204122 |
| 40 | Hypertensive crisis (HP:0100735) | 2.52434982 |
| 41 | Abnormality of macular pigmentation (HP:0008002) | 2.50084654 |
| 42 | Abnormality of cochlea (HP:0000375) | 2.49889238 |
| 43 | Abnormality of reticulocytes (HP:0004312) | 2.48974376 |
| 44 | Poikilocytosis (HP:0004447) | 2.38036624 |
| 45 | Chronic hepatic failure (HP:0100626) | 2.35713563 |
| 46 | Rhabdomyolysis (HP:0003201) | 2.32432752 |
| 47 | Facial shape deformation (HP:0011334) | 2.31794745 |
| 48 | Potter facies (HP:0002009) | 2.31794745 |
| 49 | Abnormality of DNA repair (HP:0003254) | 2.29654276 |
| 50 | Abnormality of oral frenula (HP:0000190) | 2.29538073 |
| 51 | Azoospermia (HP:0000027) | 2.26355522 |
| 52 | Impulsivity (HP:0100710) | 2.26136456 |
| 53 | Ileus (HP:0002595) | 2.26017791 |
| 54 | Abnormal spermatogenesis (HP:0008669) | 2.25139979 |
| 55 | Unilateral renal agenesis (HP:0000122) | 2.23710804 |
| 56 | Self-mutilation (HP:0000742) | 2.23426331 |
| 57 | Tinnitus (HP:0000360) | 2.21904082 |
| 58 | Aplasia/Hypoplasia of the thymus (HP:0010515) | 2.19665979 |
| 59 | Cholelithiasis (HP:0001081) | 2.19343671 |
| 60 | Obsessive-compulsive behavior (HP:0000722) | 2.19249229 |
| 61 | Asymmetric septal hypertrophy (HP:0001670) | 2.14814551 |
| 62 | Birth length less than 3rd percentile (HP:0003561) | 2.13743711 |
| 63 | Chromsome breakage (HP:0040012) | 2.13426729 |
| 64 | Rhinitis (HP:0012384) | 2.10601608 |
| 65 | Myoglobinuria (HP:0002913) | 2.10402258 |
| 66 | Hyponatremia (HP:0002902) | 2.09683704 |
| 67 | Hypoplastic ischia (HP:0003175) | 2.08358201 |
| 68 | Ventricular fibrillation (HP:0001663) | 2.06178112 |
| 69 | Decreased number of large peripheral myelinated nerve fibers (HP:0003387) | 2.05053419 |
| 70 | Termporal pattern (HP:0011008) | 2.04770547 |
| 71 | Insidious onset (HP:0003587) | 2.04770547 |
| 72 | Abnormal sex determination (HP:0012244) | 1.99962774 |
| 73 | Sex reversal (HP:0012245) | 1.99962774 |
| 74 | Small intestinal stenosis (HP:0012848) | 1.98429184 |
| 75 | Duodenal stenosis (HP:0100867) | 1.98429184 |
| 76 | Abnormally folded helix (HP:0008544) | 1.98291135 |
| 77 | Enlarged epiphyses (HP:0010580) | 1.97650969 |
| 78 | Cutaneous melanoma (HP:0012056) | 1.96175041 |
| 79 | Abnormality of the ischium (HP:0003174) | 1.94840762 |
| 80 | Abnormality of the tricuspid valve (HP:0001702) | 1.94448020 |
| 81 | Abnormality of the aortic arch (HP:0012303) | 1.92517126 |
| 82 | Hypergonadotropic hypogonadism (HP:0000815) | 1.91852400 |
| 83 | Bronchiectasis (HP:0002110) | 1.90839552 |
| 84 | Abnormality of the columella (HP:0009929) | 1.87682959 |
| 85 | Hypoplasia of the uterus (HP:0000013) | 1.87387303 |
| 86 | Abnormality of dental color (HP:0011073) | 1.87028719 |
| 87 | Recurrent corneal erosions (HP:0000495) | 1.84930227 |
| 88 | Abnormal gallbladder morphology (HP:0012437) | 1.84348763 |
| 89 | Morphological abnormality of the inner ear (HP:0011390) | 1.83161564 |
| 90 | Renal dysplasia (HP:0000110) | 1.82999125 |
| 91 | Cortical dysplasia (HP:0002539) | 1.80840659 |
| 92 | Abnormality of sulfur amino acid metabolism (HP:0004339) | 1.80009830 |
| 93 | Decreased number of peripheral myelinated nerve fibers (HP:0003380) | 1.79456834 |
| 94 | Renovascular hypertension (HP:0100817) | 1.79453251 |
| 95 | Acanthocytosis (HP:0001927) | 1.78295134 |
| 96 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 1.77646097 |
| 97 | Overfolded helix (HP:0000396) | 1.76643913 |
| 98 | Squamous cell carcinoma (HP:0002860) | 1.75618001 |
| 99 | Abnormality of homocysteine metabolism (HP:0010919) | 1.75121640 |
| 100 | Homocystinuria (HP:0002156) | 1.75121640 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 6.40567489 |
| 2 | PINK1 | 4.51100628 |
| 3 | RIPK4 | 3.54059467 |
| 4 | KSR2 | 3.02179071 |
| 5 | MARK3 | 2.79530577 |
| 6 | DDR2 | 2.53335381 |
| 7 | INSRR | 2.44033754 |
| 8 | LATS1 | 2.30886989 |
| 9 | MAP3K2 | 2.22946813 |
| 10 | EEF2K | 2.08293484 |
| 11 | BMPR2 | 2.05256716 |
| 12 | PLK2 | 2.00368085 |
| 13 | NEK2 | 1.98178423 |
| 14 | BRD4 | 1.97599135 |
| 15 | TESK1 | 1.84761585 |
| 16 | PIK3CG | 1.83766549 |
| 17 | NTRK3 | 1.79970122 |
| 18 | CLK1 | 1.75629686 |
| 19 | STK38 | 1.71847240 |
| 20 | MAP4K2 | 1.70923534 |
| 21 | TTK | 1.70226204 |
| 22 | CDK12 | 1.63923349 |
| 23 | MAP3K4 | 1.59679027 |
| 24 | RAF1 | 1.54215678 |
| 25 | WNK1 | 1.50902110 |
| 26 | CCNB1 | 1.46213418 |
| 27 | AKT3 | 1.40999555 |
| 28 | PNCK | 1.34701509 |
| 29 | BRSK2 | 1.33364493 |
| 30 | CDC7 | 1.26676321 |
| 31 | ZAK | 1.24668073 |
| 32 | BRAF | 1.14808563 |
| 33 | MST1R | 1.14695734 |
| 34 | MAP2K7 | 1.14680366 |
| 35 | MAPK15 | 1.13728575 |
| 36 | CAMK1G | 1.13298534 |
| 37 | LATS2 | 1.12461169 |
| 38 | SRPK1 | 1.07734754 |
| 39 | MAP3K8 | 1.03325135 |
| 40 | NME1 | 0.99328412 |
| 41 | RPS6KA5 | 0.98009675 |
| 42 | EIF2AK1 | 0.96943751 |
| 43 | MAP3K1 | 0.94891000 |
| 44 | NEK1 | 0.93664501 |
| 45 | KSR1 | 0.88054427 |
| 46 | CDK7 | 0.84150927 |
| 47 | TRPM7 | 0.83349082 |
| 48 | PDPK1 | 0.83092239 |
| 49 | RET | 0.79593174 |
| 50 | WNK4 | 0.79384883 |
| 51 | PRKG2 | 0.75590667 |
| 52 | BRSK1 | 0.74448382 |
| 53 | WEE1 | 0.72891742 |
| 54 | TYRO3 | 0.71976977 |
| 55 | PBK | 0.71344869 |
| 56 | STK38L | 0.69482067 |
| 57 | PDK1 | 0.69357777 |
| 58 | STK3 | 0.69253252 |
| 59 | CHEK1 | 0.68282031 |
| 60 | NEK6 | 0.67909721 |
| 61 | TSSK6 | 0.67516976 |
| 62 | TLK1 | 0.66016310 |
| 63 | CDK1 | 0.65652050 |
| 64 | ARAF | 0.63856987 |
| 65 | EIF2AK3 | 0.63121540 |
| 66 | CDK3 | 0.62687203 |
| 67 | PTK2B | 0.59699979 |
| 68 | ATM | 0.58919863 |
| 69 | CDK2 | 0.58227775 |
| 70 | CHEK2 | 0.57857620 |
| 71 | JAK2 | 0.57790582 |
| 72 | MTOR | 0.56838649 |
| 73 | RPS6KB2 | 0.55248392 |
| 74 | ATR | 0.53191248 |
| 75 | DYRK3 | 0.53145659 |
| 76 | SCYL2 | 0.51483867 |
| 77 | PAK1 | 0.50857876 |
| 78 | ICK | 0.47813418 |
| 79 | SIK2 | 0.46820841 |
| 80 | JAK3 | 0.46680452 |
| 81 | MAP3K6 | 0.46387489 |
| 82 | BLK | 0.45281292 |
| 83 | PRKG1 | 0.43514871 |
| 84 | MYLK | 0.43115237 |
| 85 | DAPK2 | 0.41527458 |
| 86 | CAMK1D | 0.40776666 |
| 87 | RPS6KA1 | 0.39460889 |
| 88 | GSK3B | 0.38700541 |
| 89 | PAK2 | 0.37606967 |
| 90 | OBSCN | 0.37060080 |
| 91 | PLK1 | 0.35832216 |
| 92 | BTK | 0.33031767 |
| 93 | MAPK1 | 0.32992630 |
| 94 | CDK4 | 0.32567388 |
| 95 | ROCK1 | 0.30992005 |
| 96 | TNIK | 0.30832965 |
| 97 | PRKAA2 | 0.30683178 |
| 98 | MAPKAPK5 | 0.30350783 |
| 99 | SGK1 | 0.29681193 |
| 100 | IRAK3 | 0.28551922 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.50588438 |
| 2 | Olfactory transduction_Homo sapiens_hsa04740 | 4.46922350 |
| 3 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 3.76520459 |
| 4 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.47016022 |
| 5 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 3.12541652 |
| 6 | RNA transport_Homo sapiens_hsa03013 | 3.05072339 |
| 7 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 2.64768088 |
| 8 | One carbon pool by folate_Homo sapiens_hsa00670 | 2.57941641 |
| 9 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.55031720 |
| 10 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.10667417 |
| 11 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.94080004 |
| 12 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.88615286 |
| 13 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.72024751 |
| 14 | Basal transcription factors_Homo sapiens_hsa03022 | 1.71046711 |
| 15 | Homologous recombination_Homo sapiens_hsa03440 | 1.70725297 |
| 16 | Mismatch repair_Homo sapiens_hsa03430 | 1.67440930 |
| 17 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.65127287 |
| 18 | DNA replication_Homo sapiens_hsa03030 | 1.60936981 |
| 19 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 1.58485048 |
| 20 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.41902544 |
| 21 | Pyruvate metabolism_Homo sapiens_hsa00620 | 1.41462336 |
| 22 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.34609546 |
| 23 | Gap junction_Homo sapiens_hsa04540 | 1.33980200 |
| 24 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.32884938 |
| 25 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 1.27644452 |
| 26 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 1.25850609 |
| 27 | VEGF signaling pathway_Homo sapiens_hsa04370 | 1.23536342 |
| 28 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.22627711 |
| 29 | * Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 1.21084828 |
| 30 | Cell cycle_Homo sapiens_hsa04110 | 1.18944393 |
| 31 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.10645304 |
| 32 | Purine metabolism_Homo sapiens_hsa00230 | 1.06209756 |
| 33 | Apoptosis_Homo sapiens_hsa04210 | 1.02998908 |
| 34 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.00962488 |
| 35 | Viral carcinogenesis_Homo sapiens_hsa05203 | 1.00259055 |
| 36 | RNA degradation_Homo sapiens_hsa03018 | 1.00139766 |
| 37 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.99264957 |
| 38 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.98172384 |
| 39 | Taste transduction_Homo sapiens_hsa04742 | 0.97187334 |
| 40 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.96121166 |
| 41 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.95465787 |
| 42 | Carbon metabolism_Homo sapiens_hsa01200 | 0.94553006 |
| 43 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.90458127 |
| 44 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.89176690 |
| 45 | Alcoholism_Homo sapiens_hsa05034 | 0.87638754 |
| 46 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.86379684 |
| 47 | Biosynthesis of amino acids_Homo sapiens_hsa01230 | 0.85511043 |
| 48 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.84465732 |
| 49 | Spliceosome_Homo sapiens_hsa03040 | 0.84318863 |
| 50 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.80175121 |
| 51 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.78321479 |
| 52 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.73077993 |
| 53 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.72209345 |
| 54 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 0.70631257 |
| 55 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.70602772 |
| 56 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.69416455 |
| 57 | Prion diseases_Homo sapiens_hsa05020 | 0.65830690 |
| 58 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.65695055 |
| 59 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.64391758 |
| 60 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.63077489 |
| 61 | Thyroid cancer_Homo sapiens_hsa05216 | 0.60327000 |
| 62 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.56666716 |
| 63 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.55861595 |
| 64 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.54822315 |
| 65 | Influenza A_Homo sapiens_hsa05164 | 0.54737864 |
| 66 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.53913956 |
| 67 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.50427692 |
| 68 | Chronic myeloid leukemia_Homo sapiens_hsa05220 | 0.49490098 |
| 69 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.48905038 |
| 70 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.46543045 |
| 71 | Retinol metabolism_Homo sapiens_hsa00830 | 0.46327639 |
| 72 | ABC transporters_Homo sapiens_hsa02010 | 0.44657431 |
| 73 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.42358101 |
| 74 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.42132610 |
| 75 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.41989927 |
| 76 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.40191185 |
| 77 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.39071752 |
| 78 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.38337173 |
| 79 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.36896427 |
| 80 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.36357688 |
| 81 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.35234046 |
| 82 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.35164430 |
| 83 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.34008902 |
| 84 | Base excision repair_Homo sapiens_hsa03410 | 0.33145331 |
| 85 | RNA polymerase_Homo sapiens_hsa03020 | 0.31419253 |
| 86 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.31218704 |
| 87 | Measles_Homo sapiens_hsa05162 | 0.30204856 |
| 88 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.30038069 |
| 89 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.29745319 |
| 90 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.28593049 |
| 91 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.27131782 |
| 92 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 0.26698315 |
| 93 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.26047638 |
| 94 | Metabolic pathways_Homo sapiens_hsa01100 | 0.25203799 |
| 95 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.25150860 |
| 96 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.24797523 |
| 97 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.24339669 |
| 98 | Epstein-Barr virus infection_Homo sapiens_hsa05169 | 0.23719532 |
| 99 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.22312073 |
| 100 | Glioma_Homo sapiens_hsa05214 | 0.21658975 |

