

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | response to pheromone (GO:0019236) | 9.87783324 |
| 2 | sperm capacitation (GO:0048240) | 9.52870188 |
| 3 | chromosome condensation (GO:0030261) | 9.13255127 |
| 4 | DNA packaging (GO:0006323) | 8.87508552 |
| 5 | plasma membrane fusion (GO:0045026) | 8.77306866 |
| 6 | single strand break repair (GO:0000012) | 8.45580846 |
| 7 | spermatid nucleus differentiation (GO:0007289) | 7.93098038 |
| 8 | spermatid development (GO:0007286) | 7.68151175 |
| 9 | microtubule depolymerization (GO:0007019) | 7.63928918 |
| 10 | sperm-egg recognition (GO:0035036) | 7.25387876 |
| 11 | protein targeting to Golgi (GO:0000042) | 6.94074182 |
| 12 | multicellular organism reproduction (GO:0032504) | 6.87054748 |
| 13 | establishment of protein localization to Golgi (GO:0072600) | 6.68918048 |
| 14 | sexual reproduction (GO:0019953) | 6.68374509 |
| 15 | microtubule polymerization or depolymerization (GO:0031109) | 6.67801831 |
| 16 | reproduction (GO:0000003) | 6.57968494 |
| 17 | calcium ion-dependent exocytosis (GO:0017156) | 6.53737506 |
| 18 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.48425511 |
| 19 | binding of sperm to zona pellucida (GO:0007339) | 6.46377220 |
| 20 | protein polyglutamylation (GO:0018095) | 6.42920432 |
| 21 | centriole replication (GO:0007099) | 6.40937004 |
| 22 | rRNA methylation (GO:0031167) | 6.31061714 |
| 23 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.18737325 |
| 24 | axonemal dynein complex assembly (GO:0070286) | 6.12929695 |
| 25 | regulation of Rab GTPase activity (GO:0032313) | 6.10059101 |
| 26 | positive regulation of Rab GTPase activity (GO:0032851) | 6.10059101 |
| 27 | cell-cell recognition (GO:0009988) | 5.98125323 |
| 28 | spermatogenesis (GO:0007283) | 5.95101635 |
| 29 | male gamete generation (GO:0048232) | 5.93097023 |
| 30 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.70616006 |
| 31 | negative regulation of inclusion body assembly (GO:0090084) | 5.66225054 |
| 32 | gamete generation (GO:0007276) | 5.41999635 |
| 33 | centriole assembly (GO:0098534) | 5.40282093 |
| 34 | regulation of transcription involved in cell fate commitment (GO:0060850) | 5.35798689 |
| 35 | microtubule severing (GO:0051013) | 5.35374180 |
| 36 | rRNA modification (GO:0000154) | 5.26300363 |
| 37 | regulation of cilium movement (GO:0003352) | 5.21292349 |
| 38 | regulation of centriole replication (GO:0046599) | 5.10237273 |
| 39 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 4.98041281 |
| 40 | protein localization to Golgi apparatus (GO:0034067) | 4.94401286 |
| 41 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.85622040 |
| 42 | cellular ketone body metabolic process (GO:0046950) | 4.84579932 |
| 43 | chromatin silencing (GO:0006342) | 4.83471891 |
| 44 | cell wall macromolecule metabolic process (GO:0044036) | 4.77907257 |
| 45 | single fertilization (GO:0007338) | 4.71302391 |
| 46 | motile cilium assembly (GO:0044458) | 4.62755863 |
| 47 | cell wall macromolecule catabolic process (GO:0016998) | 4.55765066 |
| 48 | RNA destabilization (GO:0050779) | 4.43740753 |
| 49 | seminiferous tubule development (GO:0072520) | 4.43104195 |
| 50 | germ cell development (GO:0007281) | 4.41314142 |
| 51 | multicellular organismal reproductive process (GO:0048609) | 4.33559765 |
| 52 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.32273048 |
| 53 | ketone body metabolic process (GO:1902224) | 4.26409300 |
| 54 | regulation of inclusion body assembly (GO:0090083) | 4.08371281 |
| 55 | nucleus organization (GO:0006997) | 4.04490481 |
| 56 | musculoskeletal movement (GO:0050881) | 4.01491542 |
| 57 | multicellular organismal movement (GO:0050879) | 4.01491542 |
| 58 | fertilization (GO:0009566) | 4.00282076 |
| 59 | epithelial cilium movement (GO:0003351) | 3.91137555 |
| 60 | Golgi to endosome transport (GO:0006895) | 3.84061762 |
| 61 | coenzyme catabolic process (GO:0009109) | 3.78922138 |
| 62 | cerebral cortex neuron differentiation (GO:0021895) | 3.75666758 |
| 63 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 3.67598217 |
| 64 | organic cation transport (GO:0015695) | 3.63805675 |
| 65 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.51972168 |
| 66 | glycerol ether metabolic process (GO:0006662) | 3.51948297 |
| 67 | regulation of microtubule-based movement (GO:0060632) | 3.46395452 |
| 68 | cilium movement (GO:0003341) | 3.45919410 |
| 69 | response to acidic pH (GO:0010447) | 3.45356793 |
| 70 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.43698782 |
| 71 | microtubule nucleation (GO:0007020) | 3.40632598 |
| 72 | negative regulation of gene expression, epigenetic (GO:0045814) | 3.30179785 |
| 73 | regulation of interleukin-13 production (GO:0032656) | 3.29186604 |
| 74 | regulation of T-helper 2 cell differentiation (GO:0045628) | 3.28606432 |
| 75 | histone H3-K9 demethylation (GO:0033169) | 3.26733857 |
| 76 | ether metabolic process (GO:0018904) | 3.24626591 |
| 77 | nucleosome disassembly (GO:0006337) | 3.22494643 |
| 78 | protein-DNA complex disassembly (GO:0032986) | 3.22494643 |
| 79 | cellular response to pH (GO:0071467) | 3.16766673 |
| 80 | polyamine biosynthetic process (GO:0006596) | 3.10326276 |
| 81 | homeostasis of number of cells within a tissue (GO:0048873) | 3.07630745 |
| 82 | multicellular organismal development (GO:0007275) | 2.96238109 |
| 83 | negative regulation of histone methylation (GO:0031061) | 2.95886510 |
| 84 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 2.90077254 |
| 85 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 2.90077254 |
| 86 | DNA conformation change (GO:0071103) | 2.88661975 |
| 87 | membrane protein intracellular domain proteolysis (GO:0031293) | 2.87747158 |
| 88 | protein depolymerization (GO:0051261) | 2.86765347 |
| 89 | cell recognition (GO:0008037) | 2.86692916 |
| 90 | cranial nerve morphogenesis (GO:0021602) | 2.85452338 |
| 91 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 2.83691788 |
| 92 | regulation of ARF GTPase activity (GO:0032312) | 2.83231309 |
| 93 | NAD biosynthetic process (GO:0009435) | 2.81703057 |
| 94 | cell differentiation involved in metanephros development (GO:0072202) | 2.79870156 |
| 95 | male meiosis I (GO:0007141) | 2.78882634 |
| 96 | receptor recycling (GO:0001881) | 2.78873435 |
| 97 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 2.77183864 |
| 98 | acrosome reaction (GO:0007340) | 11.7089316 |
| 99 | fusion of sperm to egg plasma membrane (GO:0007342) | 11.5472514 |
| 100 | sperm motility (GO:0030317) | 11.5223275 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 4.91354624 |
| 2 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 3.55513010 |
| 3 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.13143946 |
| 4 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.36918259 |
| 5 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.36918259 |
| 6 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.23792507 |
| 7 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.23702826 |
| 8 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.23702826 |
| 9 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.18018566 |
| 10 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.16333015 |
| 11 | DROSHA_22980978_ChIP-Seq_HELA_Human | 2.10087984 |
| 12 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.04282068 |
| 13 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.93568029 |
| 14 | * ERA_21632823_ChIP-Seq_H3396_Human | 1.92198100 |
| 15 | * ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.91933059 |
| 16 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.91794471 |
| 17 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.87493152 |
| 18 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.86543988 |
| 19 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.85360140 |
| 20 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.84473071 |
| 21 | * EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.80677833 |
| 22 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.78348691 |
| 23 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.77074608 |
| 24 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.70790813 |
| 25 | * BCL6_27268052_Chip-Seq_Bcells_Human | 1.66885713 |
| 26 | FUS_26573619_Chip-Seq_HEK293_Human | 1.66861019 |
| 27 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.64871404 |
| 28 | * SMC4_20622854_ChIP-Seq_HELA_Human | 1.61836113 |
| 29 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.60760177 |
| 30 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.60340438 |
| 31 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.59932506 |
| 32 | * E2F1_20622854_ChIP-Seq_HELA_Human | 1.58623655 |
| 33 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.56488999 |
| 34 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.53879501 |
| 35 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.52176568 |
| 36 | * P68_20966046_ChIP-Seq_HELA_Human | 1.51983790 |
| 37 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.50970494 |
| 38 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.50215819 |
| 39 | * MYC_19829295_ChIP-Seq_ESCs_Human | 1.49564340 |
| 40 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.48633588 |
| 41 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.48398965 |
| 42 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.48259153 |
| 43 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.46269040 |
| 44 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.45170555 |
| 45 | P300_27268052_Chip-Seq_Bcells_Human | 1.44281673 |
| 46 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.43683234 |
| 47 | AR_25329375_ChIP-Seq_VCAP_Human | 1.40665625 |
| 48 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.37512781 |
| 49 | LXR_22292898_ChIP-Seq_THP-1_Human | 1.37352700 |
| 50 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.36442067 |
| 51 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.35860648 |
| 52 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.35644275 |
| 53 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.35547143 |
| 54 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.34272428 |
| 55 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.32337366 |
| 56 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.30771783 |
| 57 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.30563265 |
| 58 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.30244233 |
| 59 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.29419053 |
| 60 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.28636733 |
| 61 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.28523284 |
| 62 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.27636322 |
| 63 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.27616873 |
| 64 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.27404980 |
| 65 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.27391981 |
| 66 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.26564110 |
| 67 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.26092622 |
| 68 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.25896034 |
| 69 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.25556545 |
| 70 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.24387725 |
| 71 | KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse | 1.23384085 |
| 72 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 1.22208263 |
| 73 | NFYB_21822215_ChIP-Seq_K562_Human | 1.18839167 |
| 74 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.17269356 |
| 75 | * EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.16339297 |
| 76 | P300_19829295_ChIP-Seq_ESCs_Human | 1.15440009 |
| 77 | TBL1_22424771_ChIP-Seq_293T_Human | 1.15299495 |
| 78 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.14593672 |
| 79 | SA1_27219007_Chip-Seq_Bcells_Human | 1.14352855 |
| 80 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.13043751 |
| 81 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.12091178 |
| 82 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.10491084 |
| 83 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.08360238 |
| 84 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.08014611 |
| 85 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.07423588 |
| 86 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.07160261 |
| 87 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.06333958 |
| 88 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.05647259 |
| 89 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.05409155 |
| 90 | * SMRT_27268052_Chip-Seq_Bcells_Human | 1.04893102 |
| 91 | NFYA_21822215_ChIP-Seq_K562_Human | 1.03900999 |
| 92 | * RUNX2_22187159_ChIP-Seq_PCA_Human | 1.02161358 |
| 93 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.02024051 |
| 94 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.01734245 |
| 95 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.01734245 |
| 96 | KLF5_25053715_ChIP-Seq_YYC3_Human | 1.00956819 |
| 97 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.00949078 |
| 98 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 0.98892758 |
| 99 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 0.97482998 |
| 100 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 0.97218764 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0003878_abnormal_ear_physiology | 5.55788685 |
| 2 | MP0005377_hearing/vestibular/ear_phenot | 5.55788685 |
| 3 | MP0005670_abnormal_white_adipose | 4.60341846 |
| 4 | MP0003698_abnormal_male_reproductive | 4.31136674 |
| 5 | MP0001348_abnormal_lacrimal_gland | 4.29058578 |
| 6 | MP0001929_abnormal_gametogenesis | 3.70429137 |
| 7 | MP0000678_abnormal_parathyroid_gland | 2.66210581 |
| 8 | MP0005379_endocrine/exocrine_gland_phen | 2.41408704 |
| 9 | MP0002161_abnormal_fertility/fecundity | 2.39359797 |
| 10 | MP0002822_catalepsy | 2.18810262 |
| 11 | MP0002132_abnormal_respiratory_system | 2.18670027 |
| 12 | MP0003718_maternal_effect | 2.17852534 |
| 13 | MP0005410_abnormal_fertilization | 11.9689346 |
| 14 | MP0003646_muscle_fatigue | 1.70655969 |
| 15 | MP0002210_abnormal_sex_determination | 1.67744928 |
| 16 | MP0002249_abnormal_larynx_morphology | 1.62038633 |
| 17 | MP0001485_abnormal_pinna_reflex | 1.59394171 |
| 18 | MP0002234_abnormal_pharynx_morphology | 1.56256410 |
| 19 | MP0009053_abnormal_anal_canal | 1.53474558 |
| 20 | MP0005451_abnormal_body_composition | 1.52724231 |
| 21 | MP0001486_abnormal_startle_reflex | 1.52343893 |
| 22 | MP0005423_abnormal_somatic_nervous | 1.47347773 |
| 23 | MP0003011_delayed_dark_adaptation | 1.47136395 |
| 24 | MP0002282_abnormal_trachea_morphology | 1.46431923 |
| 25 | MP0001145_abnormal_male_reproductive | 1.31977897 |
| 26 | MP0002735_abnormal_chemical_nociception | 1.29590459 |
| 27 | MP0000653_abnormal_sex_gland | 1.28066523 |
| 28 | MP0004859_abnormal_synaptic_plasticity | 1.24933001 |
| 29 | MP0004742_abnormal_vestibular_system | 1.22979845 |
| 30 | MP0000534_abnormal_ureter_morphology | 1.22547027 |
| 31 | MP0001968_abnormal_touch/_nociception | 1.19830960 |
| 32 | MP0002138_abnormal_hepatobiliary_system | 1.18407343 |
| 33 | MP0005310_abnormal_salivary_gland | 1.18404371 |
| 34 | MP0003879_abnormal_hair_cell | 1.18226637 |
| 35 | MP0001765_abnormal_ion_homeostasis | 1.13594368 |
| 36 | MP0004510_myositis | 1.12893877 |
| 37 | MP0002127_abnormal_cardiovascular_syste | 1.10409470 |
| 38 | MP0001963_abnormal_hearing_physiology | 1.09484175 |
| 39 | MP0005248_abnormal_Harderian_gland | 1.06898890 |
| 40 | MP0000026_abnormal_inner_ear | 1.01601896 |
| 41 | MP0005395_other_phenotype | 1.01562878 |
| 42 | MP0000955_abnormal_spinal_cord | 0.86149378 |
| 43 | MP0000681_abnormal_thyroid_gland | 0.85044332 |
| 44 | MP0005666_abnormal_adipose_tissue | 0.84055483 |
| 45 | MP0002229_neurodegeneration | 0.81268377 |
| 46 | MP0001905_abnormal_dopamine_level | 0.81025222 |
| 47 | MP0008569_lethality_at_weaning | 0.79659638 |
| 48 | MP0000049_abnormal_middle_ear | 0.77659056 |
| 49 | MP0002733_abnormal_thermal_nociception | 0.77199458 |
| 50 | MP0005551_abnormal_eye_electrophysiolog | 0.77054612 |
| 51 | MP0008877_abnormal_DNA_methylation | 0.76806355 |
| 52 | MP0000516_abnormal_urinary_system | 0.73317099 |
| 53 | MP0005367_renal/urinary_system_phenotyp | 0.73317099 |
| 54 | MP0002067_abnormal_sensory_capabilities | 0.72936217 |
| 55 | MP0005167_abnormal_blood-brain_barrier | 0.71800662 |
| 56 | MP0009115_abnormal_fat_cell | 0.71368835 |
| 57 | MP0005375_adipose_tissue_phenotype | 0.69225108 |
| 58 | MP0001666_abnormal_nutrient_absorption | 0.69045718 |
| 59 | MP0004085_abnormal_heartbeat | 0.68372667 |
| 60 | MP0002557_abnormal_social/conspecific_i | 0.67414991 |
| 61 | MP0005535_abnormal_body_temperature | 0.61542737 |
| 62 | MP0002572_abnormal_emotion/affect_behav | 0.60650999 |
| 63 | MP0005253_abnormal_eye_physiology | 0.60036282 |
| 64 | MP0005636_abnormal_mineral_homeostasis | 0.57387705 |
| 65 | MP0001440_abnormal_grooming_behavior | 0.57135189 |
| 66 | MP0009745_abnormal_behavioral_response | 0.57004323 |
| 67 | MP0002653_abnormal_ependyma_morphology | 0.56587993 |
| 68 | MP0004233_abnormal_muscle_weight | 0.56319510 |
| 69 | MP0000003_abnormal_adipose_tissue | 0.55588495 |
| 70 | MP0004484_altered_response_of | 0.53908106 |
| 71 | MP0001970_abnormal_pain_threshold | 0.52327860 |
| 72 | MP0001879_abnormal_lymphatic_vessel | 0.52306149 |
| 73 | MP0003119_abnormal_digestive_system | 0.51427649 |
| 74 | MP0002734_abnormal_mechanical_nocicepti | 0.50857067 |
| 75 | MP0009697_abnormal_copulation | 0.50763897 |
| 76 | MP0005623_abnormal_meninges_morphology | 0.45814981 |
| 77 | MP0002272_abnormal_nervous_system | 0.45251283 |
| 78 | MP0005083_abnormal_biliary_tract | 0.44261284 |
| 79 | MP0000470_abnormal_stomach_morphology | 0.43206591 |
| 80 | MP0003077_abnormal_cell_cycle | 0.43118089 |
| 81 | MP0006292_abnormal_olfactory_placode | 0.41985188 |
| 82 | MP0002928_abnormal_bile_duct | 0.41158417 |
| 83 | MP0003137_abnormal_impulse_conducting | 0.39287130 |
| 84 | MP0000566_synostosis | 0.39211091 |
| 85 | MP0003699_abnormal_female_reproductive | 0.38940137 |
| 86 | MP0001545_abnormal_hematopoietic_system | 0.38897128 |
| 87 | MP0005397_hematopoietic_system_phenotyp | 0.38897128 |
| 88 | MP0001501_abnormal_sleep_pattern | 0.37420805 |
| 89 | MP0000249_abnormal_blood_vessel | 0.37163571 |
| 90 | MP0003936_abnormal_reproductive_system | 0.37036822 |
| 91 | MP0003635_abnormal_synaptic_transmissio | 0.36733464 |
| 92 | MP0004036_abnormal_muscle_relaxation | 0.36694029 |
| 93 | MP0009764_decreased_sensitivity_to | 0.35414915 |
| 94 | MP0008995_early_reproductive_senescence | 0.34494220 |
| 95 | MP0001270_distended_abdomen | 0.33242940 |
| 96 | MP0008961_abnormal_basal_metabolism | 0.32358011 |
| 97 | MP0003880_abnormal_central_pattern | 0.32207461 |
| 98 | MP0003091_abnormal_cell_migration | 0.31640186 |
| 99 | MP0005391_vision/eye_phenotype | 0.31525646 |
| 100 | MP0003631_nervous_system_phenotype | 0.31314535 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Severe visual impairment (HP:0001141) | 8.21115917 |
| 2 | Asymmetric septal hypertrophy (HP:0001670) | 6.12196900 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 5.94123419 |
| 4 | Absent/shortened dynein arms (HP:0200106) | 5.94123419 |
| 5 | Attenuation of retinal blood vessels (HP:0007843) | 5.18796550 |
| 6 | Bony spicule pigmentary retinopathy (HP:0007737) | 5.17103298 |
| 7 | Bell-shaped thorax (HP:0001591) | 4.82007690 |
| 8 | Abnormal ciliary motility (HP:0012262) | 4.59478670 |
| 9 | Male infertility (HP:0003251) | 4.54110169 |
| 10 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 4.51356535 |
| 11 | Resting tremor (HP:0002322) | 4.48425075 |
| 12 | Abnormal respiratory motile cilium physiology (HP:0012261) | 4.45746362 |
| 13 | Tubulointerstitial nephritis (HP:0001970) | 4.35770805 |
| 14 | Abnormal respiratory epithelium morphology (HP:0012253) | 4.34583668 |
| 15 | Abnormal respiratory motile cilium morphology (HP:0005938) | 4.34583668 |
| 16 | Hypoplastic ischia (HP:0003175) | 4.29094314 |
| 17 | Hyperkalemia (HP:0002153) | 4.27501426 |
| 18 | Infertility (HP:0000789) | 4.17993797 |
| 19 | Facial shape deformation (HP:0011334) | 4.15186079 |
| 20 | Potter facies (HP:0002009) | 4.15186079 |
| 21 | Chronic hepatic failure (HP:0100626) | 4.06074366 |
| 22 | Enlarged epiphyses (HP:0010580) | 4.01150952 |
| 23 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.90869130 |
| 24 | Nasal polyposis (HP:0100582) | 3.85908483 |
| 25 | Abnormality of the ischium (HP:0003174) | 3.81183743 |
| 26 | Impulsivity (HP:0100710) | 3.80327376 |
| 27 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 3.77601559 |
| 28 | Abnormality of macular pigmentation (HP:0008002) | 3.77445118 |
| 29 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 3.66112436 |
| 30 | Cone-rod dystrophy (HP:0000548) | 3.37408392 |
| 31 | Abnormal spermatogenesis (HP:0008669) | 3.36452999 |
| 32 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.26561237 |
| 33 | Hypoplasia of the thymus (HP:0000778) | 3.15285903 |
| 34 | Azoospermia (HP:0000027) | 3.13178092 |
| 35 | Abnormality of the nasal mucosa (HP:0000433) | 3.11325786 |
| 36 | Postural instability (HP:0002172) | 3.04287587 |
| 37 | Nephronophthisis (HP:0000090) | 2.94255908 |
| 38 | Abnormal urine output (HP:0012590) | 2.87621191 |
| 39 | Abnormality of the costochondral junction (HP:0000919) | 2.76312760 |
| 40 | Epiphyseal dysplasia (HP:0002656) | 2.71626872 |
| 41 | Progressive cerebellar ataxia (HP:0002073) | 2.63223470 |
| 42 | Double outlet right ventricle (HP:0001719) | 2.60659270 |
| 43 | Congenital malformation of the right heart (HP:0011723) | 2.60659270 |
| 44 | Amelogenesis imperfecta (HP:0000705) | 2.59621625 |
| 45 | Unilateral renal agenesis (HP:0000122) | 2.57458383 |
| 46 | Rhinitis (HP:0012384) | 2.57329056 |
| 47 | Generalized aminoaciduria (HP:0002909) | 2.56036807 |
| 48 | Abnormality of the aortic arch (HP:0012303) | 2.53256600 |
| 49 | Abnormality of potassium homeostasis (HP:0011042) | 2.51853300 |
| 50 | Progressive sensorineural hearing impairment (HP:0000408) | 2.51491897 |
| 51 | Stage 5 chronic kidney disease (HP:0003774) | 2.50693191 |
| 52 | Renal dysplasia (HP:0000110) | 2.48717729 |
| 53 | Abnormality of dental color (HP:0011073) | 2.48016060 |
| 54 | Abnormality of renal excretion (HP:0011036) | 2.47771043 |
| 55 | Abnormality of the renal medulla (HP:0100957) | 2.46614771 |
| 56 | Hypoalphalipoproteinemia (HP:0003233) | 2.46537294 |
| 57 | Portal hypertension (HP:0001409) | 2.45099903 |
| 58 | Truncal obesity (HP:0001956) | 2.35543170 |
| 59 | Hypophosphatemic rickets (HP:0004912) | 2.35333517 |
| 60 | Abnormal drinking behavior (HP:0030082) | 2.35023109 |
| 61 | Polydipsia (HP:0001959) | 2.35023109 |
| 62 | Tubulointerstitial abnormality (HP:0001969) | 2.30740325 |
| 63 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 2.28106609 |
| 64 | Absent epiphyses (HP:0010577) | 2.28106609 |
| 65 | Widely patent fontanelles and sutures (HP:0004492) | 2.26349675 |
| 66 | Polyuria (HP:0000103) | 2.25604020 |
| 67 | Abnormality of the hepatic vasculature (HP:0006707) | 2.22708847 |
| 68 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 2.22647512 |
| 69 | Abnormality of the parathyroid morphology (HP:0011766) | 2.22365899 |
| 70 | Intellectual disability, moderate (HP:0002342) | 2.18865562 |
| 71 | Spastic paraparesis (HP:0002313) | 2.15380379 |
| 72 | Ventricular tachycardia (HP:0004756) | 2.15219860 |
| 73 | Abnormality of the pubic bones (HP:0003172) | 2.13575864 |
| 74 | Hyponatremia (HP:0002902) | 2.08906285 |
| 75 | Mixed hearing impairment (HP:0000410) | 2.05387335 |
| 76 | Renovascular hypertension (HP:0100817) | 2.05262806 |
| 77 | Abnormality of the epiphysis of the femoral head (HP:0010574) | 2.02980380 |
| 78 | Flattened epiphyses (HP:0003071) | 1.96839226 |
| 79 | Bronchiectasis (HP:0002110) | 1.96416741 |
| 80 | Insulin-resistant diabetes mellitus (HP:0000831) | 1.93821141 |
| 81 | Osteomalacia (HP:0002749) | 1.92970776 |
| 82 | Abnormality involving the epiphyses of the lower limbs (HP:0006500) | 1.90825036 |
| 83 | Abnormality of femoral epiphyses (HP:0006499) | 1.90825036 |
| 84 | Decreased central vision (HP:0007663) | 1.88568920 |
| 85 | Short ribs (HP:0000773) | 1.88239979 |
| 86 | Menstrual irregularities (HP:0000858) | 1.87539028 |
| 87 | Chronic bronchitis (HP:0004469) | 1.86988521 |
| 88 | Occipital encephalocele (HP:0002085) | 1.84865177 |
| 89 | Abnormal ventriculo-arterial connection (HP:0011563) | 1.82540732 |
| 90 | Transposition of the great arteries (HP:0001669) | 1.82540732 |
| 91 | Abnormal connection of the cardiac segments (HP:0011545) | 1.82540732 |
| 92 | Tubular atrophy (HP:0000092) | 1.82292030 |
| 93 | Protuberant abdomen (HP:0001538) | 1.80933768 |
| 94 | Sensory axonal neuropathy (HP:0003390) | 1.79663430 |
| 95 | Abnormality of the femoral head (HP:0003368) | 1.79256295 |
| 96 | Vertebral clefting (HP:0008428) | 1.76969644 |
| 97 | Recurrent corneal erosions (HP:0000495) | 1.75815414 |
| 98 | Recurrent pneumonia (HP:0006532) | 1.73867955 |
| 99 | Anterior segment dysgenesis (HP:0007700) | 1.69053585 |
| 100 | Bradycardia (HP:0001662) | 1.68497753 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 9.01335625 |
| 2 | TESK1 | 6.15206360 |
| 3 | DDR2 | 5.37416141 |
| 4 | INSRR | 3.44700747 |
| 5 | PLK2 | 3.37969730 |
| 6 | BRD4 | 3.03512084 |
| 7 | STK38 | 2.89154421 |
| 8 | PNCK | 2.73582481 |
| 9 | MAP4K2 | 2.48386405 |
| 10 | MAPK15 | 2.34248152 |
| 11 | CAMK1G | 2.29847117 |
| 12 | MST1R | 2.17352205 |
| 13 | STK38L | 2.06013660 |
| 14 | PRKD3 | 1.91699691 |
| 15 | PIK3CG | 1.69897656 |
| 16 | PDPK1 | 1.63689732 |
| 17 | WNK1 | 1.62734459 |
| 18 | PDK1 | 1.51840927 |
| 19 | CDK7 | 1.48681277 |
| 20 | CDK12 | 1.43574362 |
| 21 | PTK2B | 1.24687242 |
| 22 | DYRK1B | 1.18353214 |
| 23 | NEK6 | 1.13813881 |
| 24 | MAP3K9 | 0.99573172 |
| 25 | CAMK1D | 0.96936634 |
| 26 | KSR2 | 0.92029334 |
| 27 | LATS2 | 0.86924204 |
| 28 | SIK2 | 0.84793430 |
| 29 | UHMK1 | 0.82627781 |
| 30 | RPS6KA2 | 0.80633429 |
| 31 | AKT3 | 0.79251827 |
| 32 | PRKG2 | 0.78587196 |
| 33 | PRKG1 | 0.73911617 |
| 34 | BRAF | 0.72582075 |
| 35 | TYRO3 | 0.65699869 |
| 36 | MAP3K11 | 0.64864019 |
| 37 | PRKAA2 | 0.64519173 |
| 38 | WNK4 | 0.64436506 |
| 39 | LATS1 | 0.63992447 |
| 40 | RPS6KA1 | 0.62874358 |
| 41 | TESK2 | 0.59283235 |
| 42 | MAP2K2 | 0.56473053 |
| 43 | MAP3K2 | 0.52860857 |
| 44 | CAMK1 | 0.49099957 |
| 45 | ROCK1 | 0.48110049 |
| 46 | MAP3K8 | 0.47441011 |
| 47 | RPS6KL1 | 0.47298676 |
| 48 | RPS6KC1 | 0.47298676 |
| 49 | JAK3 | 0.47262778 |
| 50 | MUSK | 0.47003471 |
| 51 | CDK2 | 0.46241471 |
| 52 | GSK3B | 0.44364144 |
| 53 | CDK19 | 0.44322455 |
| 54 | RPS6KA6 | 0.43254436 |
| 55 | STK39 | 0.43063561 |
| 56 | MAPK1 | 0.41124031 |
| 57 | MET | 0.39861469 |
| 58 | CDK1 | 0.39630267 |
| 59 | CDK3 | 0.39281116 |
| 60 | MTOR | 0.38468015 |
| 61 | ARAF | 0.35482613 |
| 62 | SGK494 | 0.34606837 |
| 63 | SGK223 | 0.34606837 |
| 64 | MARK1 | 0.34376157 |
| 65 | PRKCG | 0.33803702 |
| 66 | MAPK8 | 0.31897323 |
| 67 | OXSR1 | 0.31752978 |
| 68 | MAPK11 | 0.30512931 |
| 69 | PRKCZ | 0.29569998 |
| 70 | CHEK1 | 0.29324015 |
| 71 | RIPK4 | 0.27913334 |
| 72 | CAMK4 | 0.27556750 |
| 73 | BMPR1B | 0.27137385 |
| 74 | PRKCB | 0.26988015 |
| 75 | NTRK3 | 0.25581984 |
| 76 | SGK1 | 0.25459002 |
| 77 | MAPK14 | 0.24559434 |
| 78 | MAP3K1 | 0.24126216 |
| 79 | CDK4 | 0.23530134 |
| 80 | TNIK | 0.22848803 |
| 81 | MAP3K4 | 0.22572798 |
| 82 | ADRBK2 | 0.22302231 |
| 83 | BRSK1 | 0.21239200 |
| 84 | TIE1 | 0.20929030 |
| 85 | FER | 0.20114756 |
| 86 | MAPK10 | 0.19552437 |
| 87 | NEK2 | 0.19113854 |
| 88 | MARK2 | 0.17886570 |
| 89 | AKT1 | 0.17743199 |
| 90 | PKN1 | 0.17705228 |
| 91 | FRK | 0.17158175 |
| 92 | RIPK1 | 0.14520625 |
| 93 | DYRK3 | 0.11773117 |
| 94 | PRKCE | 0.11556414 |
| 95 | PRKACB | 0.10691301 |
| 96 | PRKACA | 0.09393396 |
| 97 | PRKAA1 | 0.08782802 |
| 98 | IKBKB | 0.08591372 |
| 99 | SGK2 | 0.07977530 |
| 100 | CDK11A | 0.07453281 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 7.02885370 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 5.53452354 |
| 3 | Olfactory transduction_Homo sapiens_hsa04740 | 4.10702377 |
| 4 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.41296628 |
| 5 | Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961 | 2.37163702 |
| 6 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.08835004 |
| 7 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.89296835 |
| 8 | Allograft rejection_Homo sapiens_hsa05330 | 1.88610966 |
| 9 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.87950351 |
| 10 | Taste transduction_Homo sapiens_hsa04742 | 1.84257360 |
| 11 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.84116386 |
| 12 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.75505877 |
| 13 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.55154742 |
| 14 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 1.54458241 |
| 15 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.52744998 |
| 16 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.49423870 |
| 17 | Antigen processing and presentation_Homo sapiens_hsa04612 | 1.47672683 |
| 18 | RNA transport_Homo sapiens_hsa03013 | 1.39748127 |
| 19 | Protein digestion and absorption_Homo sapiens_hsa04974 | 1.34724518 |
| 20 | Viral myocarditis_Homo sapiens_hsa05416 | 1.33031704 |
| 21 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.31182346 |
| 22 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.28901010 |
| 23 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 1.26086562 |
| 24 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.21108640 |
| 25 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.20455706 |
| 26 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 1.17080112 |
| 27 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.16594029 |
| 28 | Phototransduction_Homo sapiens_hsa04744 | 1.15830396 |
| 29 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.14026512 |
| 30 | Salivary secretion_Homo sapiens_hsa04970 | 1.11865306 |
| 31 | ABC transporters_Homo sapiens_hsa02010 | 1.09276789 |
| 32 | Endocytosis_Homo sapiens_hsa04144 | 1.09080057 |
| 33 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 1.03311748 |
| 34 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.01624415 |
| 35 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.00649867 |
| 36 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.00454561 |
| 37 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.95194255 |
| 38 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.92626421 |
| 39 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.92558124 |
| 40 | Renin-angiotensin system_Homo sapiens_hsa04614 | 0.89014336 |
| 41 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.87839073 |
| 42 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.84275084 |
| 43 | Morphine addiction_Homo sapiens_hsa05032 | 0.84238636 |
| 44 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.83416355 |
| 45 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.83143355 |
| 46 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.82768603 |
| 47 | Circadian entrainment_Homo sapiens_hsa04713 | 0.82439001 |
| 48 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.81136340 |
| 49 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.76645076 |
| 50 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.74669334 |
| 51 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 0.74403080 |
| 52 | Retinol metabolism_Homo sapiens_hsa00830 | 0.73176289 |
| 53 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.73055108 |
| 54 | Influenza A_Homo sapiens_hsa05164 | 0.71499226 |
| 55 | Bile secretion_Homo sapiens_hsa04976 | 0.71226073 |
| 56 | Nicotine addiction_Homo sapiens_hsa05033 | 0.71127727 |
| 57 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.70241571 |
| 58 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.68854756 |
| 59 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.65961844 |
| 60 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.65734268 |
| 61 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.65362779 |
| 62 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.64807504 |
| 63 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.64621052 |
| 64 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.58702811 |
| 65 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.57188565 |
| 66 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.56958672 |
| 67 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.55773855 |
| 68 | Renin secretion_Homo sapiens_hsa04924 | 0.54722261 |
| 69 | Tight junction_Homo sapiens_hsa04530 | 0.51451706 |
| 70 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.49091740 |
| 71 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.48209746 |
| 72 | Purine metabolism_Homo sapiens_hsa00230 | 0.47815338 |
| 73 | Basal transcription factors_Homo sapiens_hsa03022 | 0.47146906 |
| 74 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.46604906 |
| 75 | Insulin secretion_Homo sapiens_hsa04911 | 0.46338169 |
| 76 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.45647624 |
| 77 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.44781780 |
| 78 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.44278686 |
| 79 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.43351562 |
| 80 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.37603473 |
| 81 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.30835077 |
| 82 | GABAergic synapse_Homo sapiens_hsa04727 | 0.30550120 |
| 83 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.29050525 |
| 84 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.29016912 |
| 85 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.28501391 |
| 86 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.28388219 |
| 87 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.28110767 |
| 88 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.26841100 |
| 89 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.25471175 |
| 90 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.25255621 |
| 91 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.23587866 |
| 92 | Long-term potentiation_Homo sapiens_hsa04720 | 0.23009371 |
| 93 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.22935534 |
| 94 | Huntingtons disease_Homo sapiens_hsa05016 | 0.20559133 |
| 95 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.19167690 |
| 96 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.18371173 |
| 97 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.15448949 |
| 98 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.13772432 |
| 99 | Adherens junction_Homo sapiens_hsa04520 | 0.13630223 |
| 100 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.13114422 |

