

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | acrosome reaction (GO:0007340) | 7.61800437 |
| 2 | sperm motility (GO:0030317) | 7.21981877 |
| 3 | establishment of protein localization to Golgi (GO:0072600) | 7.10259215 |
| 4 | protein targeting to Golgi (GO:0000042) | 7.04829495 |
| 5 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 6.62267409 |
| 6 | single strand break repair (GO:0000012) | 6.19773075 |
| 7 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 6.19389137 |
| 8 | phosphatidylethanolamine metabolic process (GO:0046337) | 5.79503476 |
| 9 | * regulation of ARF GTPase activity (GO:0032312) | 5.71859188 |
| 10 | fusion of sperm to egg plasma membrane (GO:0007342) | 5.65199738 |
| 11 | spermatid development (GO:0007286) | 5.29266985 |
| 12 | chromosome condensation (GO:0030261) | 5.09416008 |
| 13 | DNA packaging (GO:0006323) | 5.05772893 |
| 14 | protein localization to Golgi apparatus (GO:0034067) | 5.03927403 |
| 15 | sperm capacitation (GO:0048240) | 4.96389250 |
| 16 | multicellular organism reproduction (GO:0032504) | 4.89271446 |
| 17 | regulation of Rab GTPase activity (GO:0032313) | 4.49467123 |
| 18 | positive regulation of Rab GTPase activity (GO:0032851) | 4.49467123 |
| 19 | plasma membrane fusion (GO:0045026) | 4.44340433 |
| 20 | motile cilium assembly (GO:0044458) | 4.28840425 |
| 21 | cellular ketone body metabolic process (GO:0046950) | 4.28086785 |
| 22 | sperm-egg recognition (GO:0035036) | 4.24387716 |
| 23 | reproduction (GO:0000003) | 4.18276294 |
| 24 | histone H3-K4 trimethylation (GO:0080182) | 4.03018104 |
| 25 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.00958628 |
| 26 | regulation of establishment of cell polarity (GO:2000114) | 3.97576795 |
| 27 | centriole assembly (GO:0098534) | 3.82295431 |
| 28 | binding of sperm to zona pellucida (GO:0007339) | 3.81127084 |
| 29 | cell-cell recognition (GO:0009988) | 3.75129105 |
| 30 | response to pheromone (GO:0019236) | 3.65188359 |
| 31 | protein polyglutamylation (GO:0018095) | 3.58807708 |
| 32 | negative regulation of multicellular organism growth (GO:0040015) | 3.54711856 |
| 33 | spermatid nucleus differentiation (GO:0007289) | 3.54364295 |
| 34 | intra-Golgi vesicle-mediated transport (GO:0006891) | 3.53117436 |
| 35 | spermatogenesis (GO:0007283) | 3.52866668 |
| 36 | male gamete generation (GO:0048232) | 3.52169580 |
| 37 | ketone body metabolic process (GO:1902224) | 3.51401699 |
| 38 | axonemal dynein complex assembly (GO:0070286) | 3.49362459 |
| 39 | receptor recycling (GO:0001881) | 3.45874492 |
| 40 | epithelial cilium movement (GO:0003351) | 3.45698899 |
| 41 | peptidyl-lysine trimethylation (GO:0018023) | 3.42945844 |
| 42 | single fertilization (GO:0007338) | 3.41159001 |
| 43 | cilium movement (GO:0003341) | 3.36528643 |
| 44 | coenzyme catabolic process (GO:0009109) | 3.35078628 |
| 45 | microtubule depolymerization (GO:0007019) | 3.32734208 |
| 46 | regulation of establishment or maintenance of cell polarity (GO:0032878) | 3.32410689 |
| 47 | histone H3-K9 demethylation (GO:0033169) | 3.30262586 |
| 48 | calcium ion-dependent exocytosis (GO:0017156) | 3.30164517 |
| 49 | centriole replication (GO:0007099) | 3.28491329 |
| 50 | seminiferous tubule development (GO:0072520) | 3.26960830 |
| 51 | specification of organ identity (GO:0010092) | 3.20837006 |
| 52 | gamete generation (GO:0007276) | 3.20824465 |
| 53 | microtubule polymerization or depolymerization (GO:0031109) | 3.15135311 |
| 54 | nuclear pore complex assembly (GO:0051292) | 3.14068686 |
| 55 | regulation of interleukin-13 production (GO:0032656) | 3.12824420 |
| 56 | germ cell development (GO:0007281) | 3.11976236 |
| 57 | detection of chemical stimulus involved in sensory perception of smell (GO:0050911) | 3.10045935 |
| 58 | positive regulation of synaptic transmission, dopaminergic (GO:0032226) | 3.09725861 |
| 59 | insulin-like growth factor receptor signaling pathway (GO:0048009) | 3.09616808 |
| 60 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.08744629 |
| 61 | heart field specification (GO:0003128) | 3.08360034 |
| 62 | secondary heart field specification (GO:0003139) | 3.08360034 |
| 63 | sex differentiation (GO:0007548) | 3.06653481 |
| 64 | histone lysine demethylation (GO:0070076) | 3.06447882 |
| 65 | regulation of cilium assembly (GO:1902017) | 3.04424751 |
| 66 | regulation of MHC class I biosynthetic process (GO:0045343) | 3.02083295 |
| 67 | organic cation transport (GO:0015695) | 3.00607815 |
| 68 | positive regulation of protein kinase C signaling (GO:0090037) | 2.98679996 |
| 69 | regulation of cilium movement (GO:0003352) | 2.98301777 |
| 70 | peptidyl-lysine methylation (GO:0018022) | 2.95612581 |
| 71 | histone demethylation (GO:0016577) | 2.92089257 |
| 72 | histone H3-K36 demethylation (GO:0070544) | 2.91949584 |
| 73 | sexual reproduction (GO:0019953) | 2.91706167 |
| 74 | histone lysine methylation (GO:0034968) | 2.88993391 |
| 75 | chromatin silencing (GO:0006342) | 2.85377244 |
| 76 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 2.84710901 |
| 77 | rRNA methylation (GO:0031167) | 2.83587704 |
| 78 | negative regulation of inclusion body assembly (GO:0090084) | 2.78088178 |
| 79 | cartilage development involved in endochondral bone morphogenesis (GO:0060351) | 2.77016405 |
| 80 | carnitine shuttle (GO:0006853) | 2.76940927 |
| 81 | mRNA cleavage (GO:0006379) | 2.76769915 |
| 82 | histone H3-K4 methylation (GO:0051568) | 2.71137995 |
| 83 | antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G | 2.69596865 |
| 84 | microtubule severing (GO:0051013) | 2.69422309 |
| 85 | histone H3-K9 methylation (GO:0051567) | 2.69195923 |
| 86 | somite rostral/caudal axis specification (GO:0032525) | 2.68698162 |
| 87 | coronary vasculature morphogenesis (GO:0060977) | 2.68657775 |
| 88 | regulation of interleukin-5 production (GO:0032674) | 2.67071082 |
| 89 | phosphatidylcholine biosynthetic process (GO:0006656) | 2.66940203 |
| 90 | protein dealkylation (GO:0008214) | 2.66349868 |
| 91 | protein demethylation (GO:0006482) | 2.66349868 |
| 92 | fertilization (GO:0009566) | 2.65508736 |
| 93 | nucleus organization (GO:0006997) | 2.64439816 |
| 94 | response to acidic pH (GO:0010447) | 2.63197849 |
| 95 | cardiac ventricle formation (GO:0003211) | 2.60034850 |
| 96 | necroptotic process (GO:0070266) | 2.59031811 |
| 97 | multicellular organismal reproductive process (GO:0048609) | 2.55869700 |
| 98 | indole-containing compound catabolic process (GO:0042436) | 2.53590683 |
| 99 | indolalkylamine catabolic process (GO:0046218) | 2.53590683 |
| 100 | tryptophan catabolic process (GO:0006569) | 2.53590683 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 3.01168575 |
| 2 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 2.51530641 |
| 3 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.41798378 |
| 4 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.36302180 |
| 5 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.28767717 |
| 6 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.25660047 |
| 7 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.24418811 |
| 8 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.11588375 |
| 9 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.89140910 |
| 10 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.86475620 |
| 11 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.84074061 |
| 12 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.81881043 |
| 13 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.78724426 |
| 14 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.78724426 |
| 15 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.77342298 |
| 16 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.77342298 |
| 17 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.75198179 |
| 18 | ERA_21632823_ChIP-Seq_H3396_Human | 1.74762864 |
| 19 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.74629356 |
| 20 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.70465595 |
| 21 | VDR_22108803_ChIP-Seq_LS180_Human | 1.67858409 |
| 22 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.66443822 |
| 23 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.66107515 |
| 24 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.66067552 |
| 25 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.61604293 |
| 26 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.59490003 |
| 27 | TBL1_22424771_ChIP-Seq_293T_Human | 1.58258749 |
| 28 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.56013705 |
| 29 | STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse | 1.49460369 |
| 30 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.49110695 |
| 31 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.48853781 |
| 32 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.46949422 |
| 33 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.46194643 |
| 34 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.44515643 |
| 35 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.43042635 |
| 36 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.42853796 |
| 37 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.40435281 |
| 38 | NFYB_21822215_ChIP-Seq_K562_Human | 1.38928919 |
| 39 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.38635270 |
| 40 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.38537525 |
| 41 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.38104716 |
| 42 | NFYA_21822215_ChIP-Seq_K562_Human | 1.37753140 |
| 43 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.34899248 |
| 44 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.34825392 |
| 45 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.33921539 |
| 46 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.32989938 |
| 47 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.31430614 |
| 48 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.31028950 |
| 49 | VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human | 1.29767548 |
| 50 | STAT3_23295773_ChIP-Seq_U87_Human | 1.29667827 |
| 51 | RUNX_20019798_ChIP-Seq_JUKART_Human | 1.27989974 |
| 52 | AR_25329375_ChIP-Seq_VCAP_Human | 1.26737259 |
| 53 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.26330220 |
| 54 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.25699511 |
| 55 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.25485742 |
| 56 | SMC4_20622854_ChIP-Seq_HELA_Human | 1.24312241 |
| 57 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.23754288 |
| 58 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.23168623 |
| 59 | RXR_22108803_ChIP-Seq_LS180_Human | 1.22466371 |
| 60 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.21913482 |
| 61 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.20528255 |
| 62 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.19919196 |
| 63 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.18981961 |
| 64 | P68_20966046_ChIP-Seq_HELA_Human | 1.18527129 |
| 65 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.17903435 |
| 66 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.17655539 |
| 67 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.16595527 |
| 68 | SPI1_23127762_ChIP-Seq_K562_Human | 1.16435043 |
| 69 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 1.15901796 |
| 70 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.14717567 |
| 71 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.14640970 |
| 72 | P300_27268052_Chip-Seq_Bcells_Human | 1.13774453 |
| 73 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.12038849 |
| 74 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.10584452 |
| 75 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.10326386 |
| 76 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.10153739 |
| 77 | TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.09969021 |
| 78 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.09815166 |
| 79 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.09515945 |
| 80 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.08936693 |
| 81 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.08917137 |
| 82 | FUS_26573619_Chip-Seq_HEK293_Human | 1.08209722 |
| 83 | TCF4_23295773_ChIP-Seq_U87_Human | 1.06325370 |
| 84 | IRF1_21803131_ChIP-Seq_MONOCYTES_Human | 1.05820450 |
| 85 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.05744714 |
| 86 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.05575376 |
| 87 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.05391180 |
| 88 | * GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.05009277 |
| 89 | OCT4_19829295_ChIP-Seq_ESCs_Human | 1.03779746 |
| 90 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.03033502 |
| 91 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.02477123 |
| 92 | SMRT_27268052_Chip-Seq_Bcells_Human | 1.02179434 |
| 93 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.01635720 |
| 94 | GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.01630477 |
| 95 | CDX2_22108803_ChIP-Seq_LS180_Human | 1.01198470 |
| 96 | IRF8_22096565_ChIP-ChIP_GC-B_Human | 1.00960695 |
| 97 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.00753282 |
| 98 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 0.99436220 |
| 99 | NCOR_22424771_ChIP-Seq_293T_Human | 0.98455779 |
| 100 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 0.98450102 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 7.18596857 |
| 2 | MP0003646_muscle_fatigue | 3.88728694 |
| 3 | MP0005670_abnormal_white_adipose | 3.86441624 |
| 4 | MP0005360_urolithiasis | 2.83999212 |
| 5 | MP0003698_abnormal_male_reproductive | 2.79540275 |
| 6 | MP0008004_abnormal_stomach_pH | 2.69878766 |
| 7 | MP0001348_abnormal_lacrimal_gland | 2.61970173 |
| 8 | MP0002163_abnormal_gland_morphology | 2.60755736 |
| 9 | MP0003172_abnormal_lysosome_physiology | 2.59682865 |
| 10 | MP0002138_abnormal_hepatobiliary_system | 2.55787501 |
| 11 | MP0002132_abnormal_respiratory_system | 2.52891218 |
| 12 | MP0002837_dystrophic_cardiac_calcinosis | 2.35832147 |
| 13 | MP0001929_abnormal_gametogenesis | 2.29945850 |
| 14 | MP0005379_endocrine/exocrine_gland_phen | 2.26531688 |
| 15 | MP0000569_abnormal_digit_pigmentation | 2.24924696 |
| 16 | MP0001873_stomach_inflammation | 2.12175982 |
| 17 | MP0002234_abnormal_pharynx_morphology | 2.10045433 |
| 18 | MP0003878_abnormal_ear_physiology | 2.00278537 |
| 19 | MP0005377_hearing/vestibular/ear_phenot | 2.00278537 |
| 20 | MP0004510_myositis | 1.92571758 |
| 21 | MP0005310_abnormal_salivary_gland | 1.91838027 |
| 22 | MP0000749_muscle_degeneration | 1.89652729 |
| 23 | MP0001661_extended_life_span | 1.58885358 |
| 24 | MP0002127_abnormal_cardiovascular_syste | 1.51969192 |
| 25 | MP0003252_abnormal_bile_duct | 1.46353200 |
| 26 | MP0004036_abnormal_muscle_relaxation | 1.39976555 |
| 27 | MP0002161_abnormal_fertility/fecundity | 1.38881964 |
| 28 | MP0004043_abnormal_pH_regulation | 1.36842207 |
| 29 | MP0005551_abnormal_eye_electrophysiolog | 1.36810096 |
| 30 | MP0005083_abnormal_biliary_tract | 1.26478161 |
| 31 | MP0004084_abnormal_cardiac_muscle | 1.19782982 |
| 32 | MP0009115_abnormal_fat_cell | 1.18518387 |
| 33 | MP0002822_catalepsy | 1.17469193 |
| 34 | MP0003045_fibrosis | 1.17062005 |
| 35 | MP0003011_delayed_dark_adaptation | 1.14199217 |
| 36 | MP0001986_abnormal_taste_sensitivity | 1.11469160 |
| 37 | MP0003879_abnormal_hair_cell | 1.10645344 |
| 38 | MP0000678_abnormal_parathyroid_gland | 1.09127035 |
| 39 | MP0004742_abnormal_vestibular_system | 1.07960816 |
| 40 | MP0002210_abnormal_sex_determination | 1.07358200 |
| 41 | MP0005666_abnormal_adipose_tissue | 1.06483817 |
| 42 | MP0008995_early_reproductive_senescence | 1.06078107 |
| 43 | MP0004381_abnormal_hair_follicle | 1.01929275 |
| 44 | MP0000465_gastrointestinal_hemorrhage | 1.01540470 |
| 45 | MP0003763_abnormal_thymus_physiology | 1.00963169 |
| 46 | MP0000371_diluted_coat_color | 0.99840049 |
| 47 | MP0004233_abnormal_muscle_weight | 0.98065849 |
| 48 | MP0002693_abnormal_pancreas_physiology | 0.97612860 |
| 49 | MP0005334_abnormal_fat_pad | 0.93703785 |
| 50 | MP0008775_abnormal_heart_ventricle | 0.93588718 |
| 51 | MP0002229_neurodegeneration | 0.90150867 |
| 52 | MP0001666_abnormal_nutrient_absorption | 0.89536170 |
| 53 | MP0005266_abnormal_metabolism | 0.87553688 |
| 54 | MP0003936_abnormal_reproductive_system | 0.87313969 |
| 55 | MP0005375_adipose_tissue_phenotype | 0.86669574 |
| 56 | MP0001270_distended_abdomen | 0.85956307 |
| 57 | MP0001764_abnormal_homeostasis | 0.84830055 |
| 58 | MP0000026_abnormal_inner_ear | 0.84353631 |
| 59 | MP0002168_other_aberrant_phenotype | 0.84266524 |
| 60 | MP0004145_abnormal_muscle_electrophysio | 0.83393947 |
| 61 | MP0002269_muscular_atrophy | 0.83337962 |
| 62 | MP0000653_abnormal_sex_gland | 0.82941435 |
| 63 | MP0004085_abnormal_heartbeat | 0.82078397 |
| 64 | MP0005647_abnormal_sex_gland | 0.81182612 |
| 65 | MP0004264_abnormal_extraembryonic_tissu | 0.80764347 |
| 66 | MP0001145_abnormal_male_reproductive | 0.80249104 |
| 67 | MP0005058_abnormal_lysosome_morphology | 0.79412721 |
| 68 | MP0001765_abnormal_ion_homeostasis | 0.79048975 |
| 69 | MP0010329_abnormal_lipoprotein_level | 0.78941457 |
| 70 | MP0001485_abnormal_pinna_reflex | 0.78581077 |
| 71 | MP0002653_abnormal_ependyma_morphology | 0.77759603 |
| 72 | MP0001529_abnormal_vocalization | 0.77373752 |
| 73 | MP0002249_abnormal_larynx_morphology | 0.75961838 |
| 74 | MP0005451_abnormal_body_composition | 0.75772919 |
| 75 | MP0009840_abnormal_foam_cell | 0.75348904 |
| 76 | MP0003787_abnormal_imprinting | 0.74492496 |
| 77 | MP0002876_abnormal_thyroid_physiology | 0.74170758 |
| 78 | MP0004087_abnormal_muscle_fiber | 0.73839870 |
| 79 | MP0008877_abnormal_DNA_methylation | 0.72628474 |
| 80 | MP0004130_abnormal_muscle_cell | 0.71420692 |
| 81 | MP0005253_abnormal_eye_physiology | 0.71334223 |
| 82 | MP0001664_abnormal_digestion | 0.70176604 |
| 83 | MP0003195_calcinosis | 0.70068526 |
| 84 | MP0001835_abnormal_antigen_presentation | 0.68682168 |
| 85 | MP0005499_abnormal_olfactory_system | 0.63497453 |
| 86 | MP0005394_taste/olfaction_phenotype | 0.63497453 |
| 87 | MP0005376_homeostasis/metabolism_phenot | 0.63333350 |
| 88 | MP0001501_abnormal_sleep_pattern | 0.62591481 |
| 89 | MP0000470_abnormal_stomach_morphology | 0.62009990 |
| 90 | MP0000003_abnormal_adipose_tissue | 0.61566562 |
| 91 | MP0000230_abnormal_systemic_arterial | 0.61154976 |
| 92 | MP0001963_abnormal_hearing_physiology | 0.61054528 |
| 93 | MP0005395_other_phenotype | 0.60891225 |
| 94 | MP0005248_abnormal_Harderian_gland | 0.60701343 |
| 95 | MP0000538_abnormal_urinary_bladder | 0.59766649 |
| 96 | MP0001800_abnormal_humoral_immune | 0.59609484 |
| 97 | MP0010630_abnormal_cardiac_muscle | 0.59543136 |
| 98 | MP0005330_cardiomyopathy | 0.59098104 |
| 99 | MP0003136_yellow_coat_color | 0.58483999 |
| 100 | MP0002118_abnormal_lipid_homeostasis | 0.57060286 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Autoimmune thrombocytopenia (HP:0001973) | 5.64392154 |
| 2 | Severe visual impairment (HP:0001141) | 5.19722899 |
| 3 | Abnormal delayed hypersensitivity skin test (HP:0002963) | 4.96121509 |
| 4 | Autoimmune hemolytic anemia (HP:0001890) | 4.70536115 |
| 5 | Enlarged epiphyses (HP:0010580) | 4.65872259 |
| 6 | Hypoplastic ischia (HP:0003175) | 3.80011104 |
| 7 | Eosinophilia (HP:0001880) | 3.74100364 |
| 8 | Hyperkalemia (HP:0002153) | 3.70414076 |
| 9 | Hypochromic anemia (HP:0001931) | 3.65648926 |
| 10 | Abnormality of the columella (HP:0009929) | 3.62926827 |
| 11 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 3.44556651 |
| 12 | Tubulointerstitial nephritis (HP:0001970) | 3.42979491 |
| 13 | Granulocytopenia (HP:0001913) | 3.40809953 |
| 14 | Increased IgM level (HP:0003496) | 3.37874472 |
| 15 | Chronic hepatic failure (HP:0100626) | 3.36525623 |
| 16 | Abnormality of the ischium (HP:0003174) | 3.24852212 |
| 17 | Neonatal hypoglycemia (HP:0001998) | 3.13509261 |
| 18 | Bony spicule pigmentary retinopathy (HP:0007737) | 3.09493248 |
| 19 | Postural instability (HP:0002172) | 3.08815682 |
| 20 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 2.99461789 |
| 21 | Absent/shortened dynein arms (HP:0200106) | 2.99461789 |
| 22 | Genetic anticipation (HP:0003743) | 2.80998244 |
| 23 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.80808589 |
| 24 | Abnormality of the aortic arch (HP:0012303) | 2.77513020 |
| 25 | Progressive cerebellar ataxia (HP:0002073) | 2.67187466 |
| 26 | Abnormality of the fingertips (HP:0001211) | 2.65886092 |
| 27 | Abnormality of eosinophils (HP:0001879) | 2.64949409 |
| 28 | Abnormality of macular pigmentation (HP:0008002) | 2.64495113 |
| 29 | Abnormality of T cell physiology (HP:0011840) | 2.59802375 |
| 30 | Abnormality of chloride homeostasis (HP:0011422) | 2.56545211 |
| 31 | Attenuation of retinal blood vessels (HP:0007843) | 2.54288179 |
| 32 | Bell-shaped thorax (HP:0001591) | 2.53650168 |
| 33 | Abnormality of the hepatic vasculature (HP:0006707) | 2.52339536 |
| 34 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.49150995 |
| 35 | Abnormality of the renal medulla (HP:0100957) | 2.48903018 |
| 36 | Nephronophthisis (HP:0000090) | 2.46607466 |
| 37 | Resting tremor (HP:0002322) | 2.42148101 |
| 38 | Gaze-evoked nystagmus (HP:0000640) | 2.41546664 |
| 39 | Abnormality of T cell number (HP:0011839) | 2.39461448 |
| 40 | Hypoplasia of the thymus (HP:0000778) | 2.38971660 |
| 41 | Abnormal ciliary motility (HP:0012262) | 2.37458775 |
| 42 | Dysmetric saccades (HP:0000641) | 2.30982530 |
| 43 | Truncal obesity (HP:0001956) | 2.27885780 |
| 44 | Congenital sensorineural hearing impairment (HP:0008527) | 2.27802070 |
| 45 | Male infertility (HP:0003251) | 2.26632885 |
| 46 | Asymmetric septal hypertrophy (HP:0001670) | 2.19053976 |
| 47 | Abnormal pancreas size (HP:0012094) | 2.18241949 |
| 48 | Infertility (HP:0000789) | 2.15011096 |
| 49 | Lip pit (HP:0100267) | 2.12759931 |
| 50 | Birth length less than 3rd percentile (HP:0003561) | 2.12090520 |
| 51 | Heterotopia (HP:0002282) | 2.11054207 |
| 52 | Impulsivity (HP:0100710) | 2.06851731 |
| 53 | Easy fatigability (HP:0003388) | 2.06602697 |
| 54 | Long clavicles (HP:0000890) | 2.06462765 |
| 55 | Renal dysplasia (HP:0000110) | 2.01768259 |
| 56 | Prostate neoplasm (HP:0100787) | 2.00728383 |
| 57 | Hypophosphatemic rickets (HP:0004912) | 1.99878169 |
| 58 | Widely patent fontanelles and sutures (HP:0004492) | 1.99676781 |
| 59 | Colitis (HP:0002583) | 1.98430492 |
| 60 | Insulin-resistant diabetes mellitus (HP:0000831) | 1.97230110 |
| 61 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 1.95273316 |
| 62 | Abnormal respiratory motile cilium physiology (HP:0012261) | 1.95256322 |
| 63 | Sex reversal (HP:0012245) | 1.93317073 |
| 64 | Abnormal sex determination (HP:0012244) | 1.93317073 |
| 65 | Hypoalphalipoproteinemia (HP:0003233) | 1.93141935 |
| 66 | Deep palmar crease (HP:0006191) | 1.91831758 |
| 67 | Abnormality of potassium homeostasis (HP:0011042) | 1.91131388 |
| 68 | Tubular atrophy (HP:0000092) | 1.90926587 |
| 69 | Slow saccadic eye movements (HP:0000514) | 1.90189102 |
| 70 | Stage 5 chronic kidney disease (HP:0003774) | 1.84867434 |
| 71 | Congenital malformation of the right heart (HP:0011723) | 1.84673947 |
| 72 | Double outlet right ventricle (HP:0001719) | 1.84673947 |
| 73 | Cone-rod dystrophy (HP:0000548) | 1.84226250 |
| 74 | Glucose intolerance (HP:0000833) | 1.83132543 |
| 75 | Cystic liver disease (HP:0006706) | 1.82303889 |
| 76 | Chin dimple (HP:0010751) | 1.80291184 |
| 77 | Gonadal dysgenesis (HP:0000133) | 1.80272297 |
| 78 | Depressed nasal tip (HP:0000437) | 1.76458206 |
| 79 | Abnormal respiratory epithelium morphology (HP:0012253) | 1.76127356 |
| 80 | Abnormal respiratory motile cilium morphology (HP:0005938) | 1.76127356 |
| 81 | Thoracolumbar scoliosis (HP:0002944) | 1.75546123 |
| 82 | Tetany (HP:0001281) | 1.75287367 |
| 83 | True hermaphroditism (HP:0010459) | 1.74560568 |
| 84 | Enlarged kidneys (HP:0000105) | 1.74357712 |
| 85 | Leukocytosis (HP:0001974) | 1.73988561 |
| 86 | Duplicated collecting system (HP:0000081) | 1.72006412 |
| 87 | Abnormality of the renal cortex (HP:0011035) | 1.69833351 |
| 88 | Portal hypertension (HP:0001409) | 1.69255219 |
| 89 | Sandal gap (HP:0001852) | 1.68077540 |
| 90 | Thin bony cortex (HP:0002753) | 1.67958533 |
| 91 | Tubulointerstitial abnormality (HP:0001969) | 1.67325849 |
| 92 | Abnormality of lateral ventricle (HP:0030047) | 1.67064588 |
| 93 | Hyperthyroidism (HP:0000836) | 1.63274169 |
| 94 | Abnormality of DNA repair (HP:0003254) | 1.63176364 |
| 95 | Increased CSF protein (HP:0002922) | 1.62470387 |
| 96 | Clumsiness (HP:0002312) | 1.62402538 |
| 97 | Abnormal urine output (HP:0012590) | 1.61405282 |
| 98 | Hyperventilation (HP:0002883) | 1.60193450 |
| 99 | Bile duct proliferation (HP:0001408) | 1.58445065 |
| 100 | Abnormal biliary tract physiology (HP:0012439) | 1.58445065 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FRK | 3.85935662 |
| 2 | TLK1 | 3.67343159 |
| 3 | PINK1 | 3.41274549 |
| 4 | PLK4 | 2.81357085 |
| 5 | MST1R | 2.63853713 |
| 6 | PIK3CA | 2.50303819 |
| 7 | CDK19 | 2.48650747 |
| 8 | CAMK1G | 2.44597604 |
| 9 | BMPR1B | 2.41713865 |
| 10 | MAP4K2 | 2.32889129 |
| 11 | MARK3 | 2.29014696 |
| 12 | CAMK1D | 2.24623789 |
| 13 | WNK4 | 2.12410960 |
| 14 | MAP2K6 | 1.97929776 |
| 15 | MAP3K7 | 1.97023341 |
| 16 | OXSR1 | 1.92359178 |
| 17 | AKT3 | 1.72917723 |
| 18 | OBSCN | 1.71376716 |
| 19 | TNK2 | 1.65932176 |
| 20 | NME1 | 1.61481587 |
| 21 | WNK1 | 1.60556172 |
| 22 | DDR2 | 1.58850160 |
| 23 | CDK12 | 1.54957656 |
| 24 | STK38 | 1.54589187 |
| 25 | STK16 | 1.50984261 |
| 26 | NEK2 | 1.41475066 |
| 27 | PNCK | 1.32567923 |
| 28 | NLK | 1.31013555 |
| 29 | SIK2 | 1.30559081 |
| 30 | STK38L | 1.26399775 |
| 31 | PDK1 | 1.22506647 |
| 32 | BCR | 1.22216685 |
| 33 | PRKAA2 | 1.19925206 |
| 34 | PDPK1 | 1.16885974 |
| 35 | PIK3CG | 1.11644408 |
| 36 | TRPM7 | 1.05022833 |
| 37 | ICK | 1.04298704 |
| 38 | EEF2K | 1.03504042 |
| 39 | TAOK2 | 1.00175375 |
| 40 | BLK | 0.99841165 |
| 41 | MAP3K13 | 0.94518055 |
| 42 | MAP3K6 | 0.93793293 |
| 43 | RET | 0.93723111 |
| 44 | INSRR | 0.91595098 |
| 45 | ZAK | 0.88124174 |
| 46 | KIT | 0.87206866 |
| 47 | MAPK15 | 0.86005690 |
| 48 | BRD4 | 0.85890383 |
| 49 | LATS1 | 0.85263356 |
| 50 | BTK | 0.80637100 |
| 51 | MARK2 | 0.75575889 |
| 52 | MAP3K1 | 0.74728744 |
| 53 | NTRK3 | 0.72886149 |
| 54 | MAPK12 | 0.72308074 |
| 55 | PKN2 | 0.71653724 |
| 56 | PRKAA1 | 0.71566572 |
| 57 | MTOR | 0.68187611 |
| 58 | MAP2K7 | 0.67869934 |
| 59 | WNK3 | 0.65687192 |
| 60 | MAP2K3 | 0.65384412 |
| 61 | SGK2 | 0.64535976 |
| 62 | TGFBR2 | 0.64126390 |
| 63 | ACVR1B | 0.62600536 |
| 64 | TNIK | 0.61602370 |
| 65 | CASK | 0.60326484 |
| 66 | CAMK1 | 0.58174799 |
| 67 | CDK3 | 0.57958254 |
| 68 | TESK1 | 0.57769970 |
| 69 | SGK494 | 0.52382426 |
| 70 | SGK223 | 0.52382426 |
| 71 | PRKD3 | 0.50744559 |
| 72 | MAP3K4 | 0.50343395 |
| 73 | PDGFRB | 0.49141427 |
| 74 | ERBB2 | 0.46945576 |
| 75 | BRAF | 0.46094404 |
| 76 | MAPK11 | 0.45241088 |
| 77 | ADRBK2 | 0.43731099 |
| 78 | PAK3 | 0.42285610 |
| 79 | SGK3 | 0.42163188 |
| 80 | PRKG1 | 0.41405507 |
| 81 | GRK1 | 0.40952221 |
| 82 | PRKCQ | 0.40429232 |
| 83 | STK11 | 0.40339730 |
| 84 | MET | 0.40035715 |
| 85 | MAPK1 | 0.39181836 |
| 86 | CHEK1 | 0.37874444 |
| 87 | TXK | 0.36115964 |
| 88 | CAMK4 | 0.35448500 |
| 89 | ITK | 0.35032682 |
| 90 | JAK2 | 0.32531054 |
| 91 | FER | 0.31292883 |
| 92 | TEC | 0.31132114 |
| 93 | PTK2B | 0.30740592 |
| 94 | SGK1 | 0.30411252 |
| 95 | PRKCG | 0.30161664 |
| 96 | RPS6KA2 | 0.27882493 |
| 97 | CDK4 | 0.27478595 |
| 98 | ATM | 0.25713823 |
| 99 | MAP4K1 | 0.25261491 |
| 100 | IKBKB | 0.25139277 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.61498543 |
| 2 | Olfactory transduction_Homo sapiens_hsa04740 | 2.44643359 |
| 3 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 2.37684358 |
| 4 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 2.27508615 |
| 5 | ABC transporters_Homo sapiens_hsa02010 | 2.20799485 |
| 6 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.07031349 |
| 7 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 2.05465464 |
| 8 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.99987355 |
| 9 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.92440336 |
| 10 | Other glycan degradation_Homo sapiens_hsa00511 | 1.77884560 |
| 11 | African trypanosomiasis_Homo sapiens_hsa05143 | 1.69771776 |
| 12 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.61909698 |
| 13 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.61619641 |
| 14 | Graft-versus-host disease_Homo sapiens_hsa05332 | 1.57674773 |
| 15 | Allograft rejection_Homo sapiens_hsa05330 | 1.52918825 |
| 16 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 1.50462829 |
| 17 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.49520313 |
| 18 | Lysine degradation_Homo sapiens_hsa00310 | 1.44343019 |
| 19 | Caffeine metabolism_Homo sapiens_hsa00232 | 1.42640241 |
| 20 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 1.36484049 |
| 21 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.23942558 |
| 22 | mTOR signaling pathway_Homo sapiens_hsa04150 | 1.23701531 |
| 23 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 1.22544666 |
| 24 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.22349074 |
| 25 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 1.19144855 |
| 26 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 1.16373505 |
| 27 | FoxO signaling pathway_Homo sapiens_hsa04068 | 1.09159007 |
| 28 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 1.08431312 |
| 29 | Insulin resistance_Homo sapiens_hsa04931 | 1.05479036 |
| 30 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.04982921 |
| 31 | Phototransduction_Homo sapiens_hsa04744 | 1.03568395 |
| 32 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.03119078 |
| 33 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.01209648 |
| 34 | Influenza A_Homo sapiens_hsa05164 | 1.00987415 |
| 35 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 1.00213266 |
| 36 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.99833852 |
| 37 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.97395253 |
| 38 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.95000048 |
| 39 | Measles_Homo sapiens_hsa05162 | 0.92329624 |
| 40 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.92326870 |
| 41 | T cell receptor signaling pathway_Homo sapiens_hsa04660 | 0.90876819 |
| 42 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.89708956 |
| 43 | Salivary secretion_Homo sapiens_hsa04970 | 0.89134921 |
| 44 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.88196289 |
| 45 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.86487611 |
| 46 | Apoptosis_Homo sapiens_hsa04210 | 0.86338069 |
| 47 | Prolactin signaling pathway_Homo sapiens_hsa04917 | 0.85919815 |
| 48 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.85907552 |
| 49 | Natural killer cell mediated cytotoxicity_Homo sapiens_hsa04650 | 0.84317746 |
| 50 | Retinol metabolism_Homo sapiens_hsa00830 | 0.81988167 |
| 51 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.80525103 |
| 52 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.79377937 |
| 53 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.77681663 |
| 54 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.77312216 |
| 55 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.74163994 |
| 56 | Endometrial cancer_Homo sapiens_hsa05213 | 0.73677318 |
| 57 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 0.72180137 |
| 58 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.72061527 |
| 59 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.71832569 |
| 60 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 0.71147153 |
| 61 | NF-kappa B signaling pathway_Homo sapiens_hsa04064 | 0.70832912 |
| 62 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.69182659 |
| 63 | Non-small cell lung cancer_Homo sapiens_hsa05223 | 0.68959757 |
| 64 | B cell receptor signaling pathway_Homo sapiens_hsa04662 | 0.68667246 |
| 65 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.67772905 |
| 66 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.66803046 |
| 67 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.65261488 |
| 68 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.64616318 |
| 69 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.64493887 |
| 70 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.64182494 |
| 71 | Platelet activation_Homo sapiens_hsa04611 | 0.63782114 |
| 72 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 0.63179672 |
| 73 | Herpes simplex infection_Homo sapiens_hsa05168 | 0.59404206 |
| 74 | Chagas disease (American trypanosomiasis)_Homo sapiens_hsa05142 | 0.58829307 |
| 75 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.58576100 |
| 76 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.58134787 |
| 77 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.57977099 |
| 78 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.57449525 |
| 79 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.56585661 |
| 80 | GnRH signaling pathway_Homo sapiens_hsa04912 | 0.56119938 |
| 81 | Hepatitis B_Homo sapiens_hsa05161 | 0.54364013 |
| 82 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.53229888 |
| 83 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.52554395 |
| 84 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.51919615 |
| 85 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.51135610 |
| 86 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 0.50899770 |
| 87 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.50417515 |
| 88 | Taste transduction_Homo sapiens_hsa04742 | 0.49316833 |
| 89 | Renin secretion_Homo sapiens_hsa04924 | 0.49286455 |
| 90 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.49198525 |
| 91 | Basal transcription factors_Homo sapiens_hsa03022 | 0.47470334 |
| 92 | Toll-like receptor signaling pathway_Homo sapiens_hsa04620 | 0.46593757 |
| 93 | Prostate cancer_Homo sapiens_hsa05215 | 0.45673619 |
| 94 | Osteoclast differentiation_Homo sapiens_hsa04380 | 0.43115572 |
| 95 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.43049192 |
| 96 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.42730701 |
| 97 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.40966881 |
| 98 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.40053815 |
| 99 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.39502871 |
| 100 | Glioma_Homo sapiens_hsa05214 | 0.33586408 |

