

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | synapsis (GO:0007129) | 8.72383570 |
| 2 | DNA methylation involved in gamete generation (GO:0043046) | 8.40484601 |
| 3 | male meiosis I (GO:0007141) | 7.73591442 |
| 4 | fusion of sperm to egg plasma membrane (GO:0007342) | 7.50163429 |
| 5 | male meiosis (GO:0007140) | 7.40878296 |
| 6 | acrosome reaction (GO:0007340) | 7.20784305 |
| 7 | chromosome organization involved in meiosis (GO:0070192) | 7.11173689 |
| 8 | synaptonemal complex assembly (GO:0007130) | 6.74410333 |
| 9 | sperm motility (GO:0030317) | 6.54879165 |
| 10 | gonadal mesoderm development (GO:0007506) | 6.38599143 |
| 11 | plasma membrane fusion (GO:0045026) | 6.36840763 |
| 12 | positive regulation of meiosis (GO:0045836) | 6.21716921 |
| 13 | spermatid development (GO:0007286) | 6.18678826 |
| 14 | meiosis I (GO:0007127) | 6.14899434 |
| 15 | meiotic nuclear division (GO:0007126) | 6.10428483 |
| 16 | synaptonemal complex organization (GO:0070193) | 6.06929770 |
| 17 | positive regulation of meiotic cell cycle (GO:0051446) | 5.79973680 |
| 18 | binding of sperm to zona pellucida (GO:0007339) | 5.39102731 |
| 19 | chromosome condensation (GO:0030261) | 5.20474202 |
| 20 | DNA packaging (GO:0006323) | 5.14899327 |
| 21 | endothelium development (GO:0003158) | 5.02570668 |
| 22 | sperm-egg recognition (GO:0035036) | 5.02227857 |
| 23 | sperm capacitation (GO:0048240) | 4.92748285 |
| 24 | meiotic cell cycle process (GO:1903046) | 4.92028389 |
| 25 | spermatogenesis (GO:0007283) | 4.83207264 |
| 26 | male gamete generation (GO:0048232) | 4.83023777 |
| 27 | germ cell development (GO:0007281) | 4.78993873 |
| 28 | meiotic chromosome segregation (GO:0045132) | 4.60226648 |
| 29 | gamete generation (GO:0007276) | 4.55629711 |
| 30 | multicellular organism reproduction (GO:0032504) | 4.51199615 |
| 31 | microtubule depolymerization (GO:0007019) | 4.40817614 |
| 32 | female gamete generation (GO:0007292) | 4.37675505 |
| 33 | histone H3-K9 demethylation (GO:0033169) | 4.33934545 |
| 34 | lymphangiogenesis (GO:0001946) | 4.27300912 |
| 35 | protein targeting to Golgi (GO:0000042) | 4.25089591 |
| 36 | gene silencing by RNA (GO:0031047) | 4.24795500 |
| 37 | regulation of meiosis (GO:0040020) | 4.19964625 |
| 38 | negative regulation of meiosis (GO:0045835) | 4.19733021 |
| 39 | reproduction (GO:0000003) | 4.19295693 |
| 40 | regulation of meiotic cell cycle (GO:0051445) | 4.16747182 |
| 41 | oogenesis (GO:0048477) | 4.16504655 |
| 42 | negative regulation of inclusion body assembly (GO:0090084) | 4.12142247 |
| 43 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 4.09758690 |
| 44 | cell-cell recognition (GO:0009988) | 4.07980237 |
| 45 | DNA synthesis involved in DNA repair (GO:0000731) | 4.04981368 |
| 46 | single strand break repair (GO:0000012) | 4.00200195 |
| 47 | fertilization (GO:0009566) | 3.99825611 |
| 48 | establishment of protein localization to Golgi (GO:0072600) | 3.99185987 |
| 49 | sexual reproduction (GO:0019953) | 3.98607116 |
| 50 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 3.92785938 |
| 51 | spermatid nucleus differentiation (GO:0007289) | 3.89553020 |
| 52 | calcium ion-dependent exocytosis (GO:0017156) | 3.86968068 |
| 53 | microtubule polymerization or depolymerization (GO:0031109) | 3.77652068 |
| 54 | meiotic cell cycle (GO:0051321) | 3.74268023 |
| 55 | sister chromatid cohesion (GO:0007062) | 3.73319382 |
| 56 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 3.69571308 |
| 57 | oocyte development (GO:0048599) | 3.68282638 |
| 58 | multicellular organismal reproductive process (GO:0048609) | 3.65545180 |
| 59 | seminiferous tubule development (GO:0072520) | 3.53382724 |
| 60 | protein polyglutamylation (GO:0018095) | 3.51613016 |
| 61 | centriole replication (GO:0007099) | 3.49919391 |
| 62 | phosphatidylethanolamine metabolic process (GO:0046337) | 3.49236762 |
| 63 | negative regulation of Rho protein signal transduction (GO:0035024) | 3.44542106 |
| 64 | sex differentiation (GO:0007548) | 3.40046768 |
| 65 | rRNA methylation (GO:0031167) | 3.36878160 |
| 66 | microtubule severing (GO:0051013) | 3.35441892 |
| 67 | resolution of meiotic recombination intermediates (GO:0000712) | 3.33473383 |
| 68 | negative regulation of gene silencing (GO:0060969) | 3.29927720 |
| 69 | gene silencing (GO:0016458) | 3.18455391 |
| 70 | centriole assembly (GO:0098534) | 3.18195917 |
| 71 | single fertilization (GO:0007338) | 3.17328399 |
| 72 | positive regulation of endothelial cell differentiation (GO:0045603) | 3.16685459 |
| 73 | regulation of histone H3-K9 methylation (GO:0051570) | 3.15681122 |
| 74 | protein localization to Golgi apparatus (GO:0034067) | 3.13504380 |
| 75 | motile cilium assembly (GO:0044458) | 2.99153620 |
| 76 | labyrinthine layer development (GO:0060711) | 2.85326044 |
| 77 | cerebral cortex neuron differentiation (GO:0021895) | 2.84911076 |
| 78 | regulation of endothelial cell differentiation (GO:0045601) | 2.84755404 |
| 79 | regulation of centriole replication (GO:0046599) | 2.82850897 |
| 80 | negative regulation of meiotic cell cycle (GO:0051447) | 2.82626534 |
| 81 | nucleus organization (GO:0006997) | 2.76551863 |
| 82 | regulation of inclusion body assembly (GO:0090083) | 2.75245940 |
| 83 | histone H3-K36 demethylation (GO:0070544) | 2.73740967 |
| 84 | DNA methylation (GO:0006306) | 2.71592419 |
| 85 | DNA alkylation (GO:0006305) | 2.71592419 |
| 86 | embryonic foregut morphogenesis (GO:0048617) | 2.70122191 |
| 87 | blood vessel maturation (GO:0001955) | 2.68858189 |
| 88 | oocyte maturation (GO:0001556) | 2.67788953 |
| 89 | response to pheromone (GO:0019236) | 2.67217159 |
| 90 | organic cation transport (GO:0015695) | 2.66453051 |
| 91 | coronary vasculature morphogenesis (GO:0060977) | 2.65230629 |
| 92 | lymph vessel development (GO:0001945) | 2.58171999 |
| 93 | reciprocal DNA recombination (GO:0035825) | 2.54313827 |
| 94 | reciprocal meiotic recombination (GO:0007131) | 2.54313827 |
| 95 | rRNA modification (GO:0000154) | 2.54077156 |
| 96 | regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315) | 2.51408011 |
| 97 | regulation of Rab GTPase activity (GO:0032313) | 2.51245104 |
| 98 | positive regulation of Rab GTPase activity (GO:0032851) | 2.51245104 |
| 99 | piRNA metabolic process (GO:0034587) | 12.1646460 |
| 100 | regulation of meiosis I (GO:0060631) | 10.1254765 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 6.09895399 |
| 2 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.63988697 |
| 3 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 2.58709342 |
| 4 | IGF1R_20145208_ChIP-Seq_DFB_Human | 2.47256297 |
| 5 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.24152225 |
| 6 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 2.17393503 |
| 7 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 2.11140278 |
| 8 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 2.10881472 |
| 9 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 2.10035521 |
| 10 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 2.07592054 |
| 11 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 1.83550734 |
| 12 | ERA_21632823_ChIP-Seq_H3396_Human | 1.76731529 |
| 13 | SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human | 1.75888709 |
| 14 | * CTCF_27219007_Chip-Seq_Bcells_Human | 1.75364331 |
| 15 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 1.71939910 |
| 16 | ELF1_20517297_ChIP-Seq_JURKAT_Human | 1.71885733 |
| 17 | KLF5_18264089_ChIP-ChIP_MESCs_Mouse | 1.71021713 |
| 18 | KLF4_18264089_ChIP-ChIP_MESCs_Mouse | 1.71021713 |
| 19 | KLF2_18264089_ChIP-ChIP_MESCs_Mouse | 1.71021713 |
| 20 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.70944042 |
| 21 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.66590355 |
| 22 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.58091260 |
| 23 | * P68_20966046_ChIP-Seq_HELA_Human | 1.57863025 |
| 24 | * SMC4_20622854_ChIP-Seq_HELA_Human | 1.55851625 |
| 25 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.53755587 |
| 26 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.53648405 |
| 27 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.47862813 |
| 28 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.46484025 |
| 29 | BCOR_27268052_Chip-Seq_Bcells_Human | 1.42161859 |
| 30 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.41770095 |
| 31 | VDR_22108803_ChIP-Seq_LS180_Human | 1.40416392 |
| 32 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.40406088 |
| 33 | RUNX1_26923725_Chip-Seq_HPCs_Mouse | 1.39437465 |
| 34 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 1.34992623 |
| 35 | OCT4_19829295_ChIP-Seq_ESCs_Human | 1.33593927 |
| 36 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.31681540 |
| 37 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.30936315 |
| 38 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.30936315 |
| 39 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.30515341 |
| 40 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.28959827 |
| 41 | TET1_21490601_ChIP-Seq_MESCs_Mouse | 1.28682749 |
| 42 | * E2F1_20622854_ChIP-Seq_HELA_Human | 1.28568315 |
| 43 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.28242259 |
| 44 | * EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.27875247 |
| 45 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.27296742 |
| 46 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.26516724 |
| 47 | KLF4_19829295_ChIP-Seq_ESCs_Human | 1.25037948 |
| 48 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.23028653 |
| 49 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.23028653 |
| 50 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.22537721 |
| 51 | * ETV1_20927104_ChIP-Seq_GIST48_Human | 1.21743247 |
| 52 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.21726860 |
| 53 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.21181692 |
| 54 | * CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 1.21110529 |
| 55 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.20246960 |
| 56 | SOX2_21211035_ChIP-Seq_LN229_Human | 1.19566122 |
| 57 | ELK4_26923725_Chip-Seq_MESODERM_Mouse | 1.19482022 |
| 58 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.19136902 |
| 59 | AR_25329375_ChIP-Seq_VCAP_Human | 1.19058077 |
| 60 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.18734093 |
| 61 | ZNF274_21170338_ChIP-Seq_K562_Hela | 1.17311539 |
| 62 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.16896128 |
| 63 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 1.16179572 |
| 64 | EP300_21415370_ChIP-Seq_HL-1_Mouse | 1.16041182 |
| 65 | * HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.15130268 |
| 66 | ESR1_17901129_ChIP-ChIP_LIVER_Mouse | 1.14528194 |
| 67 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 1.13854862 |
| 68 | GATA1_19941827_ChIP-Seq_MEL86_Mouse | 1.13714057 |
| 69 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.13508788 |
| 70 | STAT3_23295773_ChIP-Seq_U87_Human | 1.12048199 |
| 71 | * PHF8_20622853_ChIP-Seq_HELA_Human | 1.11709293 |
| 72 | SOX11_22085726_ChIP-Seq_ESNs_Mouse | 1.11447862 |
| 73 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.08806675 |
| 74 | PPARD_23208498_ChIP-Seq_MDA-MB-231_Human | 1.08640729 |
| 75 | NFYB_21822215_ChIP-Seq_K562_Human | 1.08565166 |
| 76 | * RBPJ_21746931_ChIP-Seq_IB4_Human | 1.08344984 |
| 77 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 1.07644987 |
| 78 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.07628413 |
| 79 | CEBPB_22108803_ChIP-Seq_LS180_Human | 1.07304281 |
| 80 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.07013960 |
| 81 | NFIB_24661679_ChIP-Seq_LUNG_Mouse | 1.07011644 |
| 82 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.06541723 |
| 83 | SETDB1_19884257_ChIP-Seq_MESCs_Mouse | 1.05459500 |
| 84 | BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human | 1.05459108 |
| 85 | GF1_26923725_Chip-Seq_HPCs_Mouse | 1.05239324 |
| 86 | P300_27268052_Chip-Seq_Bcells_Human | 1.05156420 |
| 87 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.05010301 |
| 88 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.03574090 |
| 89 | CREM_20920259_ChIP-Seq_GC1-SPG_Mouse | 1.02881681 |
| 90 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.01428061 |
| 91 | CBP_21632823_ChIP-Seq_H3396_Human | 1.01344577 |
| 92 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.00034114 |
| 93 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 0.99088108 |
| 94 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 0.98785902 |
| 95 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 0.98024696 |
| 96 | TBL1_22424771_ChIP-Seq_293T_Human | 0.96878642 |
| 97 | RAD21_21589869_ChIP-Seq_MESCs_Mouse | 0.96816701 |
| 98 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 0.96328079 |
| 99 | LXR_22292898_ChIP-Seq_THP-1_Human | 0.96231326 |
| 100 | SOX2_22085726_ChIP-Seq_NPCs_Mouse | 0.95563540 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0010368_abnormal_lymphatic_system | 7.36004823 |
| 2 | MP0005410_abnormal_fertilization | 6.38918928 |
| 3 | MP0008877_abnormal_DNA_methylation | 4.83079410 |
| 4 | MP0005670_abnormal_white_adipose | 4.64460856 |
| 5 | MP0001879_abnormal_lymphatic_vessel | 3.79195571 |
| 6 | MP0001929_abnormal_gametogenesis | 3.72147394 |
| 7 | MP0003698_abnormal_male_reproductive | 3.43726664 |
| 8 | MP0002210_abnormal_sex_determination | 3.12287671 |
| 9 | MP0005167_abnormal_blood-brain_barrier | 3.05246337 |
| 10 | MP0003646_muscle_fatigue | 2.64326129 |
| 11 | MP0001145_abnormal_male_reproductive | 2.32862802 |
| 12 | MP0000653_abnormal_sex_gland | 2.27909779 |
| 13 | MP0005409_darkened_coat_color | 2.26025855 |
| 14 | MP0002138_abnormal_hepatobiliary_system | 2.00892992 |
| 15 | MP0002161_abnormal_fertility/fecundity | 2.00716415 |
| 16 | MP0000751_myopathy | 1.98628440 |
| 17 | MP0003718_maternal_effect | 1.90581920 |
| 18 | MP0004036_abnormal_muscle_relaxation | 1.87045286 |
| 19 | MP0006138_congestive_heart_failure | 1.79016508 |
| 20 | MP0003878_abnormal_ear_physiology | 1.78983344 |
| 21 | MP0005377_hearing/vestibular/ear_phenot | 1.78983344 |
| 22 | MP0005666_abnormal_adipose_tissue | 1.68326396 |
| 23 | MP0004215_abnormal_myocardial_fiber | 1.65283867 |
| 24 | MP0004084_abnormal_cardiac_muscle | 1.60370815 |
| 25 | MP0000678_abnormal_parathyroid_gland | 1.54946199 |
| 26 | MP0005375_adipose_tissue_phenotype | 1.54497821 |
| 27 | MP0006054_spinal_hemorrhage | 1.53306923 |
| 28 | MP0004782_abnormal_surfactant_physiolog | 1.51829600 |
| 29 | MP0000003_abnormal_adipose_tissue | 1.50765053 |
| 30 | MP0003950_abnormal_plasma_membrane | 1.49677130 |
| 31 | MP0003195_calcinosis | 1.45924309 |
| 32 | MP0002160_abnormal_reproductive_system | 1.45649228 |
| 33 | MP0000767_abnormal_smooth_muscle | 1.44645999 |
| 34 | MP0003828_pulmonary_edema | 1.42335885 |
| 35 | MP0008004_abnormal_stomach_pH | 1.38131716 |
| 36 | MP0003879_abnormal_hair_cell | 1.37739282 |
| 37 | MP0000013_abnormal_adipose_tissue | 1.37440566 |
| 38 | MP0005330_cardiomyopathy | 1.34403533 |
| 39 | MP0005647_abnormal_sex_gland | 1.32246996 |
| 40 | MP0005174_abnormal_tail_pigmentation | 1.31896900 |
| 41 | MP0004233_abnormal_muscle_weight | 1.28706514 |
| 42 | MP0002127_abnormal_cardiovascular_syste | 1.28536235 |
| 43 | MP0008260_abnormal_autophagy | 1.27545117 |
| 44 | MP0005395_other_phenotype | 1.22245517 |
| 45 | MP0004272_abnormal_basement_membrane | 1.13238260 |
| 46 | MP0001661_extended_life_span | 1.12515298 |
| 47 | MP0000749_muscle_degeneration | 1.10272315 |
| 48 | MP0003699_abnormal_female_reproductive | 1.05311450 |
| 49 | MP0005595_abnormal_vascular_smooth | 1.00888812 |
| 50 | MP0009115_abnormal_fat_cell | 0.99348063 |
| 51 | MP0001544_abnormal_cardiovascular_syste | 0.94584678 |
| 52 | MP0005385_cardiovascular_system_phenoty | 0.94584678 |
| 53 | MP0004085_abnormal_heartbeat | 0.94386134 |
| 54 | MP0000249_abnormal_blood_vessel | 0.93546956 |
| 55 | MP0001119_abnormal_female_reproductive | 0.89756390 |
| 56 | MP0002971_abnormal_brown_adipose | 0.88153882 |
| 57 | MP0002837_dystrophic_cardiac_calcinosis | 0.87139253 |
| 58 | MP0004484_altered_response_of | 0.87023170 |
| 59 | MP0002295_abnormal_pulmonary_circulatio | 0.84657400 |
| 60 | MP0005360_urolithiasis | 0.82003002 |
| 61 | MP0005365_abnormal_bile_salt | 0.79709804 |
| 62 | MP0003136_yellow_coat_color | 0.78036221 |
| 63 | MP0001614_abnormal_blood_vessel | 0.77776122 |
| 64 | MP0005058_abnormal_lysosome_morphology | 0.77094973 |
| 65 | MP0010630_abnormal_cardiac_muscle | 0.76165918 |
| 66 | MP0005620_abnormal_muscle_contractility | 0.74090097 |
| 67 | MP0003959_abnormal_lean_body | 0.73557342 |
| 68 | MP0003693_abnormal_embryo_hatching | 0.71785351 |
| 69 | MP0002269_muscular_atrophy | 0.71029679 |
| 70 | MP0001958_emphysema | 0.70332117 |
| 71 | MP0008775_abnormal_heart_ventricle | 0.69022970 |
| 72 | MP0005171_absent_coat_pigmentation | 0.68825654 |
| 73 | MP0003279_aneurysm | 0.68488671 |
| 74 | MP0002925_abnormal_cardiovascular_devel | 0.68181584 |
| 75 | MP0003868_abnormal_feces_composition | 0.66741169 |
| 76 | MP0002168_other_aberrant_phenotype | 0.66529898 |
| 77 | MP0002972_abnormal_cardiac_muscle | 0.66143067 |
| 78 | MP0002128_abnormal_blood_circulation | 0.65696947 |
| 79 | MP0000230_abnormal_systemic_arterial | 0.62114548 |
| 80 | MP0003183_abnormal_peptide_metabolism | 0.60324015 |
| 81 | MP0002332_abnormal_exercise_endurance | 0.59528037 |
| 82 | MP0001188_hyperpigmentation | 0.59398845 |
| 83 | MP0004087_abnormal_muscle_fiber | 0.59312287 |
| 84 | MP0000266_abnormal_heart_morphology | 0.58698728 |
| 85 | MP0004130_abnormal_muscle_cell | 0.58538710 |
| 86 | MP0002108_abnormal_muscle_morphology | 0.57601715 |
| 87 | MP0010329_abnormal_lipoprotein_level | 0.57004653 |
| 88 | MP0002106_abnormal_muscle_physiology | 0.54025490 |
| 89 | MP0000465_gastrointestinal_hemorrhage | 0.53237906 |
| 90 | MP0005535_abnormal_body_temperature | 0.53170237 |
| 91 | MP0003936_abnormal_reproductive_system | 0.52260365 |
| 92 | MP0001784_abnormal_fluid_regulation | 0.52152310 |
| 93 | MP0005165_increased_susceptibility_to | 0.50255338 |
| 94 | MP0005275_abnormal_skin_tensile | 0.50024294 |
| 95 | MP0005388_respiratory_system_phenotype | 0.49232141 |
| 96 | MP0002133_abnormal_respiratory_system | 0.49232141 |
| 97 | MP0001486_abnormal_startle_reflex | 0.49182333 |
| 98 | MP0001986_abnormal_taste_sensitivity | 0.48053147 |
| 99 | MP0002118_abnormal_lipid_homeostasis | 0.48024105 |
| 100 | MP0005389_reproductive_system_phenotype | 0.47729538 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Tubulointerstitial nephritis (HP:0001970) | 4.91481923 |
| 2 | Asymmetric septal hypertrophy (HP:0001670) | 4.64021866 |
| 3 | Gonadotropin excess (HP:0000837) | 4.44895960 |
| 4 | Osteomalacia (HP:0002749) | 4.24850414 |
| 5 | Male infertility (HP:0003251) | 4.23201927 |
| 6 | Horizontal nystagmus (HP:0000666) | 3.79540406 |
| 7 | Hypophosphatemic rickets (HP:0004912) | 3.51661642 |
| 8 | Portal hypertension (HP:0001409) | 3.51485030 |
| 9 | Hyperkalemia (HP:0002153) | 3.48729352 |
| 10 | Infertility (HP:0000789) | 3.47559305 |
| 11 | Abnormality of the hepatic vasculature (HP:0006707) | 3.46606871 |
| 12 | Muscle fiber splitting (HP:0003555) | 3.45075074 |
| 13 | Severe visual impairment (HP:0001141) | 3.40783050 |
| 14 | Spontaneous abortion (HP:0005268) | 3.35151447 |
| 15 | Scotoma (HP:0000575) | 3.29957296 |
| 16 | Azoospermia (HP:0000027) | 3.26559053 |
| 17 | Rickets (HP:0002748) | 3.07523173 |
| 18 | Absent/shortened dynein arms (HP:0200106) | 3.06943710 |
| 19 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 3.06943710 |
| 20 | Abnormality of the costochondral junction (HP:0000919) | 3.06910407 |
| 21 | Resting tremor (HP:0002322) | 3.06588511 |
| 22 | Esophageal varix (HP:0002040) | 3.05056429 |
| 23 | Complement deficiency (HP:0004431) | 3.00267114 |
| 24 | Enlarged epiphyses (HP:0010580) | 2.85435323 |
| 25 | Hypoalphalipoproteinemia (HP:0003233) | 2.85079602 |
| 26 | Truncal obesity (HP:0001956) | 2.83229462 |
| 27 | Polycythemia (HP:0001901) | 2.74053727 |
| 28 | Abnormal spermatogenesis (HP:0008669) | 2.66058952 |
| 29 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.65797420 |
| 30 | Hyperlipoproteinemia (HP:0010980) | 2.63944587 |
| 31 | Abnormality of the nasal mucosa (HP:0000433) | 2.63316138 |
| 32 | Joint hemorrhage (HP:0005261) | 2.60182654 |
| 33 | Attenuation of retinal blood vessels (HP:0007843) | 2.59676746 |
| 34 | Subcapsular cataract (HP:0000523) | 2.51154421 |
| 35 | Shoulder girdle muscle weakness (HP:0003547) | 2.50573402 |
| 36 | Nephritis (HP:0000123) | 2.47690826 |
| 37 | Impulsivity (HP:0100710) | 2.43815525 |
| 38 | Conjunctival telangiectasia (HP:0000524) | 2.42327051 |
| 39 | Chronic hepatic failure (HP:0100626) | 2.42257749 |
| 40 | Tubulointerstitial abnormality (HP:0001969) | 2.40948787 |
| 41 | Bundle branch block (HP:0011710) | 2.40820941 |
| 42 | Cone-rod dystrophy (HP:0000548) | 2.39818007 |
| 43 | Degeneration of the lateral corticospinal tracts (HP:0002314) | 2.39029591 |
| 44 | Atrophy/Degeneration involving the corticospinal tracts (HP:0007372) | 2.39029591 |
| 45 | Rhabdomyolysis (HP:0003201) | 2.36472641 |
| 46 | Facial shape deformation (HP:0011334) | 2.35759692 |
| 47 | Potter facies (HP:0002009) | 2.35759692 |
| 48 | Aplasia/Hypoplasia of the earlobes (HP:0009906) | 2.34408755 |
| 49 | Parkinsonism with favorable response to dopaminergic medication (HP:0002548) | 2.31795432 |
| 50 | Abnormality of macular pigmentation (HP:0008002) | 2.31048088 |
| 51 | Delayed epiphyseal ossification (HP:0002663) | 2.31021553 |
| 52 | Menstrual irregularities (HP:0000858) | 2.26792279 |
| 53 | Bell-shaped thorax (HP:0001591) | 2.25446013 |
| 54 | Stage 5 chronic kidney disease (HP:0003774) | 2.24134541 |
| 55 | Hypercholesterolemia (HP:0003124) | 2.22890606 |
| 56 | Abnormality of complement system (HP:0005339) | 2.20472437 |
| 57 | Generalized aminoaciduria (HP:0002909) | 2.20205872 |
| 58 | Abnormality of the level of lipoprotein cholesterol (HP:0010979) | 2.18251118 |
| 59 | Atelectasis (HP:0100750) | 2.18121283 |
| 60 | Rimmed vacuoles (HP:0003805) | 2.17100221 |
| 61 | Menorrhagia (HP:0000132) | 2.14651598 |
| 62 | Peripheral hypomyelination (HP:0007182) | 2.14567717 |
| 63 | Myocardial infarction (HP:0001658) | 2.13859571 |
| 64 | Heart block (HP:0012722) | 2.13747380 |
| 65 | Abnormal ciliary motility (HP:0012262) | 2.13667646 |
| 66 | Spontaneous hematomas (HP:0007420) | 2.10578101 |
| 67 | Glomerulonephritis (HP:0000099) | 2.10206247 |
| 68 | Vascular calcification (HP:0004934) | 2.09417401 |
| 69 | Systemic lupus erythematosus (HP:0002725) | 2.09393653 |
| 70 | Capillary hemangiomas (HP:0005306) | 2.05080710 |
| 71 | Widely patent fontanelles and sutures (HP:0004492) | 2.04333769 |
| 72 | Abnormal atrioventricular conduction (HP:0005150) | 2.03122569 |
| 73 | Aortic valve stenosis (HP:0001650) | 2.00429102 |
| 74 | Polar cataract (HP:0010696) | 1.99645494 |
| 75 | Hemorrhage of the eye (HP:0011885) | 1.99540644 |
| 76 | Purpura (HP:0000979) | 1.99039171 |
| 77 | Abnormality of the corticospinal tract (HP:0002492) | 1.97997987 |
| 78 | Hypergonadotropic hypogonadism (HP:0000815) | 1.97988886 |
| 79 | Insulin-resistant diabetes mellitus (HP:0000831) | 1.97552333 |
| 80 | Intellectual disability, moderate (HP:0002342) | 1.95829703 |
| 81 | Prolonged bleeding time (HP:0003010) | 1.94222215 |
| 82 | Aortic aneurysm (HP:0004942) | 1.92027453 |
| 83 | Exercise-induced myalgia (HP:0003738) | 1.90334327 |
| 84 | Gonadal dysgenesis (HP:0000133) | 1.89287809 |
| 85 | Atrial fibrillation (HP:0005110) | 1.86951003 |
| 86 | Amelogenesis imperfecta (HP:0000705) | 1.86627536 |
| 87 | Wide cranial sutures (HP:0010537) | 1.86492857 |
| 88 | Wrist flexion contracture (HP:0001239) | 1.85216645 |
| 89 | Hypolipoproteinemia (HP:0010981) | 1.84921609 |
| 90 | Acanthosis nigricans (HP:0000956) | 1.84472817 |
| 91 | Difficulty climbing stairs (HP:0003551) | 1.83422060 |
| 92 | Thin bony cortex (HP:0002753) | 1.83380281 |
| 93 | Hypertriglyceridemia (HP:0002155) | 1.82756426 |
| 94 | Bulbar palsy (HP:0001283) | 1.82287700 |
| 95 | Prolonged partial thromboplastin time (HP:0003645) | 1.82170303 |
| 96 | Cardiovascular calcification (HP:0011915) | 1.79894751 |
| 97 | Abnormality of monocarboxylic acid metabolism (HP:0010996) | 1.78417080 |
| 98 | Vertebral clefting (HP:0008428) | 1.77748467 |
| 99 | Hand muscle atrophy (HP:0009130) | 1.77001637 |
| 100 | Abnormality of the intrinsic pathway (HP:0010989) | 1.76874588 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TIE1 | 7.73017228 |
| 2 | PNCK | 5.52224519 |
| 3 | PLK4 | 3.86681390 |
| 4 | CDK19 | 3.57335295 |
| 5 | MET | 3.06960907 |
| 6 | STK38L | 3.00768422 |
| 7 | ACVR1B | 2.95577335 |
| 8 | STK38 | 2.66379715 |
| 9 | KDR | 2.63287636 |
| 10 | CAMK1G | 2.26215042 |
| 11 | PTK2B | 2.09499932 |
| 12 | TESK1 | 2.04480313 |
| 13 | KSR2 | 1.83547231 |
| 14 | PLK2 | 1.65601396 |
| 15 | MST1R | 1.63481143 |
| 16 | PRKD3 | 1.61448024 |
| 17 | LATS1 | 1.60655893 |
| 18 | INSRR | 1.52026476 |
| 19 | DDR2 | 1.49911363 |
| 20 | MAP3K2 | 1.47782734 |
| 21 | TGFBR2 | 1.35998911 |
| 22 | WNK1 | 1.33740555 |
| 23 | MAPK15 | 1.27729206 |
| 24 | MAP3K13 | 1.24516697 |
| 25 | STK39 | 1.22110999 |
| 26 | PIK3CG | 1.19659423 |
| 27 | BMX | 1.18536765 |
| 28 | ARAF | 1.16648269 |
| 29 | LATS2 | 1.15075277 |
| 30 | BRD4 | 1.15073429 |
| 31 | MYLK | 1.05467174 |
| 32 | PDPK1 | 1.03481289 |
| 33 | WNK4 | 1.01779984 |
| 34 | NEK6 | 0.97023169 |
| 35 | NTRK3 | 0.95738710 |
| 36 | NEK9 | 0.95408375 |
| 37 | FER | 0.88363877 |
| 38 | TTN | 0.81571224 |
| 39 | BRAF | 0.78562404 |
| 40 | TYRO3 | 0.76181943 |
| 41 | PTK2 | 0.72204563 |
| 42 | MAP3K9 | 0.72135088 |
| 43 | RIPK1 | 0.69601754 |
| 44 | FES | 0.67990727 |
| 45 | CAMK1 | 0.66528416 |
| 46 | MAP3K1 | 0.64955315 |
| 47 | PDGFRB | 0.64715575 |
| 48 | PRKAA2 | 0.62564767 |
| 49 | STK3 | 0.61582610 |
| 50 | PRKG1 | 0.60638998 |
| 51 | CSF1R | 0.59442603 |
| 52 | RET | 0.57858484 |
| 53 | KIT | 0.56775005 |
| 54 | PDK1 | 0.54689079 |
| 55 | MAP3K7 | 0.54541077 |
| 56 | BMPR1B | 0.51534025 |
| 57 | OBSCN | 0.48829001 |
| 58 | CDK12 | 0.48801597 |
| 59 | CDK7 | 0.47608348 |
| 60 | TGFBR1 | 0.46271858 |
| 61 | PLK1 | 0.46265399 |
| 62 | MOS | 0.45001581 |
| 63 | PINK1 | 0.44067673 |
| 64 | STK24 | 0.42367472 |
| 65 | PRKG2 | 0.41697931 |
| 66 | ROCK1 | 0.40980336 |
| 67 | ABL2 | 0.40959479 |
| 68 | OXSR1 | 0.39007788 |
| 69 | PRKD1 | 0.36238303 |
| 70 | RAF1 | 0.36050627 |
| 71 | TTK | 0.35757410 |
| 72 | RPS6KA2 | 0.35454543 |
| 73 | EGFR | 0.34117903 |
| 74 | PDGFRA | 0.33653613 |
| 75 | DYRK1B | 0.33056652 |
| 76 | IGF1R | 0.32933706 |
| 77 | MAPK1 | 0.32158515 |
| 78 | CDK4 | 0.31997755 |
| 79 | DMPK | 0.30744986 |
| 80 | MAP2K1 | 0.30535558 |
| 81 | FGR | 0.29852357 |
| 82 | SGK1 | 0.29072052 |
| 83 | TAF1 | 0.28270110 |
| 84 | MAP3K8 | 0.26794356 |
| 85 | CCNB1 | 0.24573412 |
| 86 | MARK2 | 0.24327238 |
| 87 | TEC | 0.23857400 |
| 88 | RPS6KL1 | 0.22862841 |
| 89 | RPS6KC1 | 0.22862841 |
| 90 | MTOR | 0.22027595 |
| 91 | CHEK1 | 0.20731062 |
| 92 | MAP2K2 | 0.20033519 |
| 93 | EPHA4 | 0.19828098 |
| 94 | RPS6KA1 | 0.19291449 |
| 95 | AURKA | 0.18993370 |
| 96 | RPS6KA6 | 0.17272102 |
| 97 | CDK3 | 0.16704108 |
| 98 | MUSK | 0.16547211 |
| 99 | PKN1 | 0.16366301 |
| 100 | PAK2 | 0.16110224 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 3.87088097 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.39635854 |
| 3 | Fatty acid degradation_Homo sapiens_hsa00071 | 2.82940612 |
| 4 | Complement and coagulation cascades_Homo sapiens_hsa04610 | 2.62642033 |
| 5 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 2.52624058 |
| 6 | ECM-receptor interaction_Homo sapiens_hsa04512 | 2.21329755 |
| 7 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 2.15620621 |
| 8 | PPAR signaling pathway_Homo sapiens_hsa03320 | 1.99207615 |
| 9 | ABC transporters_Homo sapiens_hsa02010 | 1.87665121 |
| 10 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 1.84481509 |
| 11 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.80808874 |
| 12 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 1.74402794 |
| 13 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.62443674 |
| 14 | Olfactory transduction_Homo sapiens_hsa04740 | 1.56974800 |
| 15 | Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400 | 1.53125225 |
| 16 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.52145386 |
| 17 | Circadian rhythm_Homo sapiens_hsa04710 | 1.50096551 |
| 18 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.49322664 |
| 19 | Retinol metabolism_Homo sapiens_hsa00830 | 1.48049217 |
| 20 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.46954558 |
| 21 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.44521006 |
| 22 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.41873434 |
| 23 | Sulfur relay system_Homo sapiens_hsa04122 | 1.37074175 |
| 24 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.36812335 |
| 25 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.33078203 |
| 26 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 1.23205648 |
| 27 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 1.22614105 |
| 28 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.19085740 |
| 29 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.18052734 |
| 30 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 1.16857940 |
| 31 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.16159344 |
| 32 | Focal adhesion_Homo sapiens_hsa04510 | 1.13349475 |
| 33 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 1.12178795 |
| 34 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 1.11196015 |
| 35 | Basal transcription factors_Homo sapiens_hsa03022 | 1.09086048 |
| 36 | Dilated cardiomyopathy_Homo sapiens_hsa05414 | 1.08110619 |
| 37 | Arginine biosynthesis_Homo sapiens_hsa00220 | 1.07639025 |
| 38 | Prion diseases_Homo sapiens_hsa05020 | 1.05738048 |
| 39 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.03761914 |
| 40 | Mismatch repair_Homo sapiens_hsa03430 | 1.02560927 |
| 41 | Histidine metabolism_Homo sapiens_hsa00340 | 1.01055568 |
| 42 | RNA transport_Homo sapiens_hsa03013 | 0.96614092 |
| 43 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.93033505 |
| 44 | Bile secretion_Homo sapiens_hsa04976 | 0.92901416 |
| 45 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.91029888 |
| 46 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.90693814 |
| 47 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.90511345 |
| 48 | Endocytosis_Homo sapiens_hsa04144 | 0.89046652 |
| 49 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.88050446 |
| 50 | Base excision repair_Homo sapiens_hsa03410 | 0.87684137 |
| 51 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.87129230 |
| 52 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.87079714 |
| 53 | Butanoate metabolism_Homo sapiens_hsa00650 | 0.84341075 |
| 54 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.83462998 |
| 55 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.82237547 |
| 56 | Cell cycle_Homo sapiens_hsa04110 | 0.81229106 |
| 57 | Taste transduction_Homo sapiens_hsa04742 | 0.78877197 |
| 58 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.76981417 |
| 59 | Platelet activation_Homo sapiens_hsa04611 | 0.76359930 |
| 60 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.75617921 |
| 61 | Gap junction_Homo sapiens_hsa04540 | 0.75449002 |
| 62 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.73771450 |
| 63 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.73074843 |
| 64 | VEGF signaling pathway_Homo sapiens_hsa04370 | 0.72290166 |
| 65 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 0.70652871 |
| 66 | Adherens junction_Homo sapiens_hsa04520 | 0.69168433 |
| 67 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.68946673 |
| 68 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.68461990 |
| 69 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.67953130 |
| 70 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.67907792 |
| 71 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.67397351 |
| 72 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.67147604 |
| 73 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.65287014 |
| 74 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.61812600 |
| 75 | Renin secretion_Homo sapiens_hsa04924 | 0.61516637 |
| 76 | Tight junction_Homo sapiens_hsa04530 | 0.59856680 |
| 77 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.57848125 |
| 78 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.57096539 |
| 79 | Amoebiasis_Homo sapiens_hsa05146 | 0.53900555 |
| 80 | mTOR signaling pathway_Homo sapiens_hsa04150 | 0.53356542 |
| 81 | PI3K-Akt signaling pathway_Homo sapiens_hsa04151 | 0.52961738 |
| 82 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.51406986 |
| 83 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.50672398 |
| 84 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.50527582 |
| 85 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.49879382 |
| 86 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.48117211 |
| 87 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.47649010 |
| 88 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.45978123 |
| 89 | Starch and sucrose metabolism_Homo sapiens_hsa00500 | 0.43045874 |
| 90 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.40595755 |
| 91 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.39286905 |
| 92 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.38994103 |
| 93 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 0.38236441 |
| 94 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.36111511 |
| 95 | AMPK signaling pathway_Homo sapiens_hsa04152 | 0.35993297 |
| 96 | Lysine degradation_Homo sapiens_hsa00310 | 0.34645339 |
| 97 | Homologous recombination_Homo sapiens_hsa03440 | 0.32972745 |
| 98 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.31568062 |
| 99 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.31375403 |
| 100 | Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964 | 0.30923742 |

