

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | poly(A)+ mRNA export from nucleus (GO:0016973) | 8.17064406 |
| 2 | regulation of non-canonical Wnt signaling pathway (GO:2000050) | 7.29434022 |
| 3 | acrosome reaction (GO:0007340) | 6.66798423 |
| 4 | multicellular organism reproduction (GO:0032504) | 6.39764604 |
| 5 | mitochondrial calcium ion transport (GO:0006851) | 6.23188451 |
| 6 | male sex determination (GO:0030238) | 6.06532898 |
| 7 | mitochondrial DNA replication (GO:0006264) | 5.75765464 |
| 8 | cell differentiation involved in metanephros development (GO:0072202) | 5.73286857 |
| 9 | fusion of sperm to egg plasma membrane (GO:0007342) | 5.61210423 |
| 10 | peptidyl-threonine dephosphorylation (GO:0035970) | 5.60561127 |
| 11 | regulation of receptor recycling (GO:0001919) | 5.42604092 |
| 12 | negative regulation of hormone biosynthetic process (GO:0032353) | 5.16958747 |
| 13 | RNA destabilization (GO:0050779) | 4.98154287 |
| 14 | reproduction (GO:0000003) | 4.93828068 |
| 15 | mesenchymal cell differentiation involved in kidney development (GO:0072161) | 4.90799911 |
| 16 | mesenchymal cell differentiation involved in renal system development (GO:2001012) | 4.90799911 |
| 17 | sex determination (GO:0007530) | 4.89094554 |
| 18 | sperm-egg recognition (GO:0035036) | 4.82720133 |
| 19 | Leydig cell differentiation (GO:0033327) | 4.79740803 |
| 20 | positive regulation of meiosis (GO:0045836) | 4.79467069 |
| 21 | motile cilium assembly (GO:0044458) | 4.76101373 |
| 22 | hypothalamus development (GO:0021854) | 4.73729949 |
| 23 | positive regulation of smoothened signaling pathway (GO:0045880) | 4.63975992 |
| 24 | receptor recycling (GO:0001881) | 4.58470280 |
| 25 | positive regulation of meiotic cell cycle (GO:0051446) | 4.48020282 |
| 26 | negative regulation of hormone metabolic process (GO:0032351) | 4.41937932 |
| 27 | water-soluble vitamin biosynthetic process (GO:0042364) | 4.36485956 |
| 28 | relaxation of cardiac muscle (GO:0055119) | 4.33529831 |
| 29 | endosome organization (GO:0007032) | 4.11090440 |
| 30 | intraciliary transport (GO:0042073) | 4.10378305 |
| 31 | regulation of sequestering of triglyceride (GO:0010889) | 4.09495413 |
| 32 | protein localization to cilium (GO:0061512) | 3.99688708 |
| 33 | pyrimidine-containing compound transmembrane transport (GO:0072531) | 3.95758401 |
| 34 | cell-cell recognition (GO:0009988) | 3.92631422 |
| 35 | positive regulation of mitochondrial calcium ion concentration (GO:0051561) | 3.92358774 |
| 36 | sperm motility (GO:0030317) | 3.85462103 |
| 37 | calcium ion-dependent exocytosis (GO:0017156) | 3.81562443 |
| 38 | negative regulation of NF-kappaB import into nucleus (GO:0042347) | 3.80293234 |
| 39 | negative regulation of transcription regulatory region DNA binding (GO:2000678) | 3.75596211 |
| 40 | DNA damage response, detection of DNA damage (GO:0042769) | 3.73010664 |
| 41 | mitochondrial DNA metabolic process (GO:0032042) | 3.71182280 |
| 42 | bone morphogenesis (GO:0060349) | 3.67378593 |
| 43 | limb development (GO:0060173) | 3.67066542 |
| 44 | appendage development (GO:0048736) | 3.67066542 |
| 45 | single fertilization (GO:0007338) | 3.58458754 |
| 46 | oocyte development (GO:0048599) | 3.54967689 |
| 47 | hematopoietic stem cell proliferation (GO:0071425) | 3.54748696 |
| 48 | cellular ketone body metabolic process (GO:0046950) | 3.50665311 |
| 49 | regulation of male gonad development (GO:2000018) | 3.46858410 |
| 50 | regulation of meiosis I (GO:0060631) | 3.46022225 |
| 51 | cytoplasmic mRNA processing body assembly (GO:0033962) | 3.41329760 |
| 52 | termination of G-protein coupled receptor signaling pathway (GO:0038032) | 3.34740943 |
| 53 | regulation of triglyceride biosynthetic process (GO:0010866) | 3.34537105 |
| 54 | membrane repolarization during cardiac muscle cell action potential (GO:0086013) | 3.34410281 |
| 55 | adrenal gland development (GO:0030325) | 3.34176761 |
| 56 | spermatid nucleus differentiation (GO:0007289) | 3.32284473 |
| 57 | chromosome condensation (GO:0030261) | 3.27724562 |
| 58 | ketone body metabolic process (GO:1902224) | 3.25531611 |
| 59 | somite development (GO:0061053) | 3.22910756 |
| 60 | binding of sperm to zona pellucida (GO:0007339) | 3.21918693 |
| 61 | locomotory exploration behavior (GO:0035641) | 3.21910334 |
| 62 | pituitary gland development (GO:0021983) | 3.20196252 |
| 63 | regulation of glucocorticoid metabolic process (GO:0031943) | 3.16746697 |
| 64 | microtubule depolymerization (GO:0007019) | 3.15812369 |
| 65 | single strand break repair (GO:0000012) | 3.13527099 |
| 66 | lipid particle organization (GO:0034389) | 3.11738195 |
| 67 | membrane repolarization during action potential (GO:0086011) | 3.04830455 |
| 68 | relaxation of muscle (GO:0090075) | 3.03958395 |
| 69 | termination of signal transduction (GO:0023021) | 3.01484049 |
| 70 | negative regulation of Rho protein signal transduction (GO:0035024) | 2.97324454 |
| 71 | establishment of protein localization to Golgi (GO:0072600) | 2.92659835 |
| 72 | sperm capacitation (GO:0048240) | 2.90626984 |
| 73 | protein targeting to Golgi (GO:0000042) | 2.90428033 |
| 74 | nucleosome disassembly (GO:0006337) | 2.82705242 |
| 75 | protein-DNA complex disassembly (GO:0032986) | 2.82705242 |
| 76 | positive regulation of growth hormone secretion (GO:0060124) | 2.81522114 |
| 77 | DNA packaging (GO:0006323) | 2.77577596 |
| 78 | neurofilament cytoskeleton organization (GO:0060052) | 2.75845521 |
| 79 | negative regulation of cAMP-mediated signaling (GO:0043951) | 2.75214943 |
| 80 | response to acidic pH (GO:0010447) | 2.72668719 |
| 81 | smoothened signaling pathway (GO:0007224) | 2.72273076 |
| 82 | regulation of interleukin-6 biosynthetic process (GO:0045408) | 2.72229328 |
| 83 | protein localization to Golgi apparatus (GO:0034067) | 2.69928445 |
| 84 | coenzyme catabolic process (GO:0009109) | 2.67775101 |
| 85 | negative regulation of gluconeogenesis (GO:0045721) | 2.67618377 |
| 86 | chondrocyte differentiation (GO:0002062) | 2.61222085 |
| 87 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 2.60004204 |
| 88 | protein polyglutamylation (GO:0018095) | 2.59351258 |
| 89 | cilium assembly (GO:0042384) | 2.58881719 |
| 90 | melanosome transport (GO:0032402) | 2.58438184 |
| 91 | cellular response to pH (GO:0071467) | 2.57509632 |
| 92 | lipopolysaccharide biosynthetic process (GO:0009103) | 2.55833259 |
| 93 | cilium organization (GO:0044782) | 2.53025153 |
| 94 | embryonic body morphogenesis (GO:0010172) | 2.50845587 |
| 95 | regulation of smoothened signaling pathway (GO:0008589) | 2.50288611 |
| 96 | positive regulation of gastrulation (GO:2000543) | 2.50225084 |
| 97 | pigment granule transport (GO:0051904) | 2.49068087 |
| 98 | response to pheromone (GO:0019236) | 17.0348837 |
| 99 | plasma membrane fusion (GO:0045026) | 13.0541015 |
| 100 | positive regulation of receptor recycling (GO:0001921) | 10.5957551 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.84070441 |
| 2 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.63687550 |
| 3 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.63687550 |
| 4 | HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse | 2.53299411 |
| 5 | FOXP3_17237761_ChIP-ChIP_TREG_Mouse | 2.45560346 |
| 6 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 2.24356554 |
| 7 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 2.06858044 |
| 8 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.99067958 |
| 9 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.97953762 |
| 10 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.95073454 |
| 11 | PHC1_16625203_ChIP-ChIP_MESCs_Mouse | 1.88365041 |
| 12 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.85522779 |
| 13 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.84390482 |
| 14 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.84260808 |
| 15 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.84260808 |
| 16 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.82637120 |
| 17 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.81986510 |
| 18 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.78982782 |
| 19 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.77559626 |
| 20 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 1.77402354 |
| 21 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.76265691 |
| 22 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.74467178 |
| 23 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.73656408 |
| 24 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.72877893 |
| 25 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.71974383 |
| 26 | SUZ12_16625203_ChIP-ChIP_MESCs_Mouse | 1.69990294 |
| 27 | NR3C1_23031785_ChIP-Seq_PC12_Mouse | 1.69349360 |
| 28 | THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse | 1.68417463 |
| 29 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 1.65768597 |
| 30 | STAT1_20625510_ChIP-Seq_HELA_Human | 1.61150534 |
| 31 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.60578634 |
| 32 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 1.59396724 |
| 33 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.57484798 |
| 34 | AR_25329375_ChIP-Seq_VCAP_Human | 1.56593910 |
| 35 | SUZ12_18974828_ChIP-Seq_MESCs_Mouse | 1.52128367 |
| 36 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.51128766 |
| 37 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.49266549 |
| 38 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.47480844 |
| 39 | RNF2_18974828_ChIP-Seq_MESCs_Mouse | 1.46796813 |
| 40 | EZH2_18974828_ChIP-Seq_MESCs_Mouse | 1.46796813 |
| 41 | P300_19829295_ChIP-Seq_ESCs_Human | 1.46750290 |
| 42 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 1.45903181 |
| 43 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.45795173 |
| 44 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.43964506 |
| 45 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.41653143 |
| 46 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.39917785 |
| 47 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.39688380 |
| 48 | CBX2_22325352_ChIP-Seq_293T-Rex_Human | 1.39542005 |
| 49 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.38417698 |
| 50 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.38073699 |
| 51 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 1.36955298 |
| 52 | MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse | 1.36458944 |
| 53 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.35216603 |
| 54 | MTF2_20144788_ChIP-Seq_MESCs_Mouse | 1.35188221 |
| 55 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.35014294 |
| 56 | RBPJ_21746931_ChIP-Seq_IB4_Human | 1.34551795 |
| 57 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.30979685 |
| 58 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 1.29607252 |
| 59 | PCGF4_22325352_ChIP-Seq_293T-Rex_Human | 1.29118144 |
| 60 | RARB_27405468_Chip-Seq_BRAIN_Mouse | 1.28224523 |
| 61 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.27524649 |
| 62 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.26759262 |
| 63 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.26515419 |
| 64 | FUS_26573619_Chip-Seq_HEK293_Human | 1.25396479 |
| 65 | EWS_26573619_Chip-Seq_HEK293_Human | 1.24985965 |
| 66 | LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.24816417 |
| 67 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.23436309 |
| 68 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.21937476 |
| 69 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.20709924 |
| 70 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.20535664 |
| 71 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.19923299 |
| 72 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 1.19123003 |
| 73 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.16291600 |
| 74 | SUZ12_20075857_ChIP-Seq_MESCs_Mouse | 1.16238301 |
| 75 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.14253665 |
| 76 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.13678914 |
| 77 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.13105848 |
| 78 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.13018909 |
| 79 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.12677643 |
| 80 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.12235141 |
| 81 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.11333371 |
| 82 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.11333371 |
| 83 | RNF2_27304074_Chip-Seq_ESCs_Mouse | 1.11001259 |
| 84 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 1.09375047 |
| 85 | SMAD4_21741376_ChIP-Seq_HESCs_Human | 1.09123083 |
| 86 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.09059451 |
| 87 | TBL1_22424771_ChIP-Seq_293T_Human | 1.08850280 |
| 88 | NFYB_21822215_ChIP-Seq_K562_Human | 1.08551495 |
| 89 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.07943454 |
| 90 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.07848300 |
| 91 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.07599195 |
| 92 | PKCTHETA_26484144_Chip-Seq_BREAST_Human | 1.06758755 |
| 93 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.06666444 |
| 94 | STAT3_23295773_ChIP-Seq_U87_Human | 1.06617877 |
| 95 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.06306248 |
| 96 | RNF2_16625203_ChIP-ChIP_MESCs_Mouse | 1.04577746 |
| 97 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.02450980 |
| 98 | SUZ12_18692474_ChIP-Seq_MEFs_Mouse | 1.02134251 |
| 99 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 1.01549652 |
| 100 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.01474916 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 6.38304576 |
| 2 | MP0003122_maternal_imprinting | 4.72541639 |
| 3 | MP0001348_abnormal_lacrimal_gland | 3.72546905 |
| 4 | MP0003011_delayed_dark_adaptation | 3.64192568 |
| 5 | MP0009046_muscle_twitch | 3.52906839 |
| 6 | MP0002909_abnormal_adrenal_gland | 3.46642992 |
| 7 | MP0001188_hyperpigmentation | 2.98298388 |
| 8 | MP0003121_genomic_imprinting | 2.92715412 |
| 9 | MP0002822_catalepsy | 2.79809871 |
| 10 | MP0005379_endocrine/exocrine_gland_phen | 2.76513095 |
| 11 | MP0003283_abnormal_digestive_organ | 2.54816132 |
| 12 | MP0009053_abnormal_anal_canal | 2.43799242 |
| 13 | MP0003698_abnormal_male_reproductive | 2.25122126 |
| 14 | MP0006072_abnormal_retinal_apoptosis | 1.98566875 |
| 15 | MP0002735_abnormal_chemical_nociception | 1.94101730 |
| 16 | MP0002272_abnormal_nervous_system | 1.82501350 |
| 17 | MP0001919_abnormal_reproductive_system | 1.68924580 |
| 18 | MP0001929_abnormal_gametogenesis | 1.65357211 |
| 19 | MP0002184_abnormal_innervation | 1.61889927 |
| 20 | MP0000631_abnormal_neuroendocrine_gland | 1.57743986 |
| 21 | MP0003878_abnormal_ear_physiology | 1.57722470 |
| 22 | MP0005377_hearing/vestibular/ear_phenot | 1.57722470 |
| 23 | MP0005253_abnormal_eye_physiology | 1.56681400 |
| 24 | MP0000955_abnormal_spinal_cord | 1.53420576 |
| 25 | MP0003195_calcinosis | 1.53385660 |
| 26 | MP0001440_abnormal_grooming_behavior | 1.49438876 |
| 27 | MP0005670_abnormal_white_adipose | 1.46439923 |
| 28 | MP0000566_synostosis | 1.45980439 |
| 29 | MP0000639_abnormal_adrenal_gland | 1.45826739 |
| 30 | MP0001542_abnormal_bone_strength | 1.45403222 |
| 31 | MP0006292_abnormal_olfactory_placode | 1.44534991 |
| 32 | MP0002138_abnormal_hepatobiliary_system | 1.40377722 |
| 33 | MP0005423_abnormal_somatic_nervous | 1.39268626 |
| 34 | MP0004134_abnormal_chest_morphology | 1.35326777 |
| 35 | MP0005084_abnormal_gallbladder_morpholo | 1.27256079 |
| 36 | MP0001486_abnormal_startle_reflex | 1.23799902 |
| 37 | MP0004885_abnormal_endolymph | 1.22651999 |
| 38 | MP0009697_abnormal_copulation | 1.21314587 |
| 39 | MP0000470_abnormal_stomach_morphology | 1.21270488 |
| 40 | MP0008961_abnormal_basal_metabolism | 1.19627240 |
| 41 | MP0000230_abnormal_systemic_arterial | 1.16642609 |
| 42 | MP0001984_abnormal_olfaction | 1.14682323 |
| 43 | MP0004147_increased_porphyrin_level | 1.14615167 |
| 44 | MP0002210_abnormal_sex_determination | 1.13030220 |
| 45 | MP0002876_abnormal_thyroid_physiology | 1.12110718 |
| 46 | MP0005389_reproductive_system_phenotype | 1.11912405 |
| 47 | MP0002557_abnormal_social/conspecific_i | 1.11413576 |
| 48 | MP0003635_abnormal_synaptic_transmissio | 1.11374918 |
| 49 | MP0002229_neurodegeneration | 1.09709573 |
| 50 | MP0001986_abnormal_taste_sensitivity | 1.07600062 |
| 51 | MP0008569_lethality_at_weaning | 1.06828193 |
| 52 | MP0005248_abnormal_Harderian_gland | 1.06803390 |
| 53 | MP0002161_abnormal_fertility/fecundity | 1.05967814 |
| 54 | MP0000534_abnormal_ureter_morphology | 1.04550632 |
| 55 | MP0003787_abnormal_imprinting | 1.03516597 |
| 56 | MP0002734_abnormal_mechanical_nocicepti | 1.02799727 |
| 57 | MP0005551_abnormal_eye_electrophysiolog | 1.01594767 |
| 58 | MP0000778_abnormal_nervous_system | 0.98947816 |
| 59 | MP0002882_abnormal_neuron_morphology | 0.97732516 |
| 60 | MP0006276_abnormal_autonomic_nervous | 0.97134646 |
| 61 | MP0001970_abnormal_pain_threshold | 0.96759430 |
| 62 | MP0004811_abnormal_neuron_physiology | 0.96532700 |
| 63 | MP0000049_abnormal_middle_ear | 0.94413861 |
| 64 | MP0004142_abnormal_muscle_tone | 0.91528312 |
| 65 | MP0003119_abnormal_digestive_system | 0.91157701 |
| 66 | MP0001145_abnormal_male_reproductive | 0.90973467 |
| 67 | MP0000653_abnormal_sex_gland | 0.90674722 |
| 68 | MP0002928_abnormal_bile_duct | 0.90324811 |
| 69 | MP0002063_abnormal_learning/memory/cond | 0.89524513 |
| 70 | MP0003936_abnormal_reproductive_system | 0.88902787 |
| 71 | MP0002932_abnormal_joint_morphology | 0.88828828 |
| 72 | MP0002102_abnormal_ear_morphology | 0.88452368 |
| 73 | MP0008789_abnormal_olfactory_epithelium | 0.88362461 |
| 74 | MP0002160_abnormal_reproductive_system | 0.86441330 |
| 75 | MP0009745_abnormal_behavioral_response | 0.84154980 |
| 76 | MP0005646_abnormal_pituitary_gland | 0.81870123 |
| 77 | MP0002166_altered_tumor_susceptibility | 0.81842699 |
| 78 | MP0005220_abnormal_exocrine_pancreas | 0.81418813 |
| 79 | MP0003942_abnormal_urinary_system | 0.80392472 |
| 80 | MP0002572_abnormal_emotion/affect_behav | 0.79969818 |
| 81 | MP0005391_vision/eye_phenotype | 0.79362006 |
| 82 | MP0001664_abnormal_digestion | 0.78830089 |
| 83 | MP0005595_abnormal_vascular_smooth | 0.74284395 |
| 84 | MP0009379_abnormal_foot_pigmentation | 0.74185675 |
| 85 | MP0004859_abnormal_synaptic_plasticity | 0.73997488 |
| 86 | MP0003880_abnormal_central_pattern | 0.72228335 |
| 87 | MP0005499_abnormal_olfactory_system | 0.72030293 |
| 88 | MP0005394_taste/olfaction_phenotype | 0.72030293 |
| 89 | MP0000750_abnormal_muscle_regeneration | 0.71684932 |
| 90 | MP0003656_abnormal_erythrocyte_physiolo | 0.70927623 |
| 91 | MP0005448_abnormal_energy_balance | 0.69339673 |
| 92 | MP0000516_abnormal_urinary_system | 0.69245146 |
| 93 | MP0005367_renal/urinary_system_phenotyp | 0.69245146 |
| 94 | MP0001756_abnormal_urination | 0.67855748 |
| 95 | MP0002332_abnormal_exercise_endurance | 0.66375701 |
| 96 | MP0001944_abnormal_pancreas_morphology | 0.65447896 |
| 97 | MP0004085_abnormal_heartbeat | 0.64613982 |
| 98 | MP0005083_abnormal_biliary_tract | 0.64250283 |
| 99 | MP0002064_seizures | 0.63851757 |
| 100 | MP0000427_abnormal_hair_cycle | 0.62824986 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Sex reversal (HP:0012245) | 9.33205446 |
| 2 | Abnormal sex determination (HP:0012244) | 9.33205446 |
| 3 | Mesomelia (HP:0003027) | 9.25918403 |
| 4 | Median cleft lip (HP:0000161) | 6.14429255 |
| 5 | Arthropathy (HP:0003040) | 5.70298306 |
| 6 | Wrist flexion contracture (HP:0001239) | 5.39494749 |
| 7 | Facial cleft (HP:0002006) | 5.39081913 |
| 8 | Broad palm (HP:0001169) | 5.21899189 |
| 9 | Unilateral renal agenesis (HP:0000122) | 4.35776116 |
| 10 | Adrenal hypoplasia (HP:0000835) | 4.22139891 |
| 11 | Gonadal dysgenesis (HP:0000133) | 3.98644669 |
| 12 | Difficulty running (HP:0009046) | 3.90289967 |
| 13 | Rhizomelia (HP:0008905) | 3.77598111 |
| 14 | Testicular neoplasm (HP:0010788) | 3.73847018 |
| 15 | Renal salt wasting (HP:0000127) | 3.70773787 |
| 16 | Gout (HP:0001997) | 3.59297144 |
| 17 | Abnormality of the fingertips (HP:0001211) | 3.58039500 |
| 18 | Abnormality of macular pigmentation (HP:0008002) | 3.56348053 |
| 19 | Large for gestational age (HP:0001520) | 3.36584651 |
| 20 | Aplasia/hypoplasia of the uterus (HP:0008684) | 3.21925155 |
| 21 | Severe visual impairment (HP:0001141) | 3.04759783 |
| 22 | Hyponatremia (HP:0002902) | 3.01256838 |
| 23 | Postaxial foot polydactyly (HP:0001830) | 2.96240135 |
| 24 | Hypogonadotrophic hypogonadism (HP:0000044) | 2.94422857 |
| 25 | Congenital hepatic fibrosis (HP:0002612) | 2.89596164 |
| 26 | Sensory axonal neuropathy (HP:0003390) | 2.84151349 |
| 27 | Autoimmune hemolytic anemia (HP:0001890) | 2.73978455 |
| 28 | Hypoplastic ischia (HP:0003175) | 2.70969356 |
| 29 | Abnormality of sodium homeostasis (HP:0010931) | 2.65881650 |
| 30 | Large eyes (HP:0001090) | 2.64324207 |
| 31 | Spinal muscular atrophy (HP:0007269) | 2.58683807 |
| 32 | Short thorax (HP:0010306) | 2.51522587 |
| 33 | Male pseudohermaphroditism (HP:0000037) | 2.48877816 |
| 34 | Exercise-induced muscle cramps (HP:0003710) | 2.44821071 |
| 35 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.28940074 |
| 36 | Short foot (HP:0001773) | 2.27887955 |
| 37 | Abnormality of the ischium (HP:0003174) | 2.24586999 |
| 38 | Torticollis (HP:0000473) | 2.23730521 |
| 39 | Ectopic anus (HP:0004397) | 2.23428041 |
| 40 | Preaxial hand polydactyly (HP:0001177) | 2.20846099 |
| 41 | Azoospermia (HP:0000027) | 2.19269633 |
| 42 | Omphalocele (HP:0001539) | 2.16571269 |
| 43 | Delayed puberty (HP:0000823) | 2.11511269 |
| 44 | Narrow chest (HP:0000774) | 2.08440801 |
| 45 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 2.07727117 |
| 46 | Postaxial hand polydactyly (HP:0001162) | 2.07154062 |
| 47 | Increased purine levels (HP:0004368) | 2.02819188 |
| 48 | Hyperuricemia (HP:0002149) | 2.02819188 |
| 49 | Polyphagia (HP:0002591) | 2.02394725 |
| 50 | Hyporeflexia of lower limbs (HP:0002600) | 2.00674931 |
| 51 | Myotonia (HP:0002486) | 1.98253894 |
| 52 | Abnormal drinking behavior (HP:0030082) | 1.97885597 |
| 53 | Polydipsia (HP:0001959) | 1.97885597 |
| 54 | Hypergammaglobulinemia (HP:0010702) | 1.97680029 |
| 55 | Neoplasm of striated muscle (HP:0009728) | 1.96053110 |
| 56 | Tubulointerstitial nephritis (HP:0001970) | 1.95083356 |
| 57 | Volvulus (HP:0002580) | 1.95073041 |
| 58 | Coxa vara (HP:0002812) | 1.93189907 |
| 59 | Rhabdomyosarcoma (HP:0002859) | 1.92500505 |
| 60 | Medial flaring of the eyebrow (HP:0010747) | 1.92065986 |
| 61 | Reticulocytopenia (HP:0001896) | 1.89968780 |
| 62 | Congenital primary aphakia (HP:0007707) | 1.88881893 |
| 63 | Hyperinsulinemic hypoglycemia (HP:0000825) | 1.88844285 |
| 64 | Nephronophthisis (HP:0000090) | 1.87973515 |
| 65 | Abnormality of the renal medulla (HP:0100957) | 1.86663565 |
| 66 | Gait imbalance (HP:0002141) | 1.81967196 |
| 67 | Type I transferrin isoform profile (HP:0003642) | 1.81466928 |
| 68 | Mesangial abnormality (HP:0001966) | 1.78852175 |
| 69 | Slow-growing hair (HP:0002217) | 1.77614778 |
| 70 | Abnormality of hair growth rate (HP:0011363) | 1.77614778 |
| 71 | Attenuation of retinal blood vessels (HP:0007843) | 1.76541026 |
| 72 | Abnormal rod and cone electroretinograms (HP:0008323) | 1.76472963 |
| 73 | Neoplasm of the oral cavity (HP:0100649) | 1.76231274 |
| 74 | Vaginal atresia (HP:0000148) | 1.74756655 |
| 75 | Nephropathy (HP:0000112) | 1.74715259 |
| 76 | Long eyelashes (HP:0000527) | 1.74455389 |
| 77 | Patchy hypopigmentation of hair (HP:0011365) | 1.73609036 |
| 78 | Neonatal short-limb short stature (HP:0008921) | 1.73305283 |
| 79 | Anxiety (HP:0000739) | 1.70860383 |
| 80 | Genital tract atresia (HP:0001827) | 1.70487902 |
| 81 | Frequent falls (HP:0002359) | 1.70445200 |
| 82 | Pendular nystagmus (HP:0012043) | 1.68678756 |
| 83 | Small hand (HP:0200055) | 1.68414209 |
| 84 | Rib fusion (HP:0000902) | 1.67896126 |
| 85 | Nephrogenic diabetes insipidus (HP:0009806) | 1.64261305 |
| 86 | Papillary thyroid carcinoma (HP:0002895) | 1.63563824 |
| 87 | Tubular atrophy (HP:0000092) | 1.63002347 |
| 88 | Polycystic kidney dysplasia (HP:0000113) | 1.61910740 |
| 89 | Aplasia/Hypoplasia of the hallux (HP:0008362) | 1.60698164 |
| 90 | Shawl scrotum (HP:0000049) | 1.60101031 |
| 91 | Facial shape deformation (HP:0011334) | 1.59991438 |
| 92 | Potter facies (HP:0002009) | 1.59991438 |
| 93 | Muscular dystrophy (HP:0003560) | 1.59934747 |
| 94 | Poor coordination (HP:0002370) | 1.59327302 |
| 95 | Congenital, generalized hypertrichosis (HP:0004540) | 1.59253554 |
| 96 | Flattened epiphyses (HP:0003071) | 1.57576440 |
| 97 | Abnormality of the renal cortex (HP:0011035) | 1.57529182 |
| 98 | 3-Methylglutaconic aciduria (HP:0003535) | 1.54767320 |
| 99 | Bulbous nose (HP:0000414) | 1.54154638 |
| 100 | Abnormal eating behavior (HP:0100738) | 1.53456221 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FER | 8.01335236 |
| 2 | AKT3 | 2.69590509 |
| 3 | CAMK1 | 2.56211820 |
| 4 | FES | 10.3220150 |
| 5 | PRKCE | 1.87549880 |
| 6 | MST4 | 1.86423595 |
| 7 | FRK | 1.83745361 |
| 8 | PLK2 | 1.82901238 |
| 9 | UHMK1 | 1.81428792 |
| 10 | DDR2 | 1.79397792 |
| 11 | INSRR | 1.71475048 |
| 12 | WNK1 | 1.58275407 |
| 13 | PNCK | 1.57400418 |
| 14 | MAP4K2 | 1.52293683 |
| 15 | PLK4 | 1.45821882 |
| 16 | STK38L | 1.39211755 |
| 17 | MINK1 | 1.37821869 |
| 18 | MST1R | 1.22319673 |
| 19 | CAMK1G | 1.18081615 |
| 20 | NTRK3 | 1.09753128 |
| 21 | NUAK1 | 1.09127008 |
| 22 | BMPR2 | 1.00269107 |
| 23 | GRK1 | 0.87515249 |
| 24 | CDK19 | 0.87062846 |
| 25 | PINK1 | 0.86782277 |
| 26 | ADRBK2 | 0.86753863 |
| 27 | BMPR1B | 0.85475642 |
| 28 | BRAF | 0.85308211 |
| 29 | HIPK2 | 0.85299665 |
| 30 | OXSR1 | 0.82764957 |
| 31 | MAP3K9 | 0.78271577 |
| 32 | ILK | 0.77374744 |
| 33 | ZAP70 | 0.75343172 |
| 34 | DYRK2 | 0.74864097 |
| 35 | TGFBR1 | 0.74255341 |
| 36 | MAPK15 | 0.73875659 |
| 37 | CSNK1A1 | 0.73478797 |
| 38 | TESK1 | 0.71376622 |
| 39 | SGK2 | 0.70894749 |
| 40 | MARK1 | 0.70700134 |
| 41 | STK24 | 0.69384406 |
| 42 | FGFR2 | 0.63785258 |
| 43 | STK38 | 0.63016713 |
| 44 | PRKCG | 0.61933132 |
| 45 | MET | 0.61599583 |
| 46 | STK11 | 0.60191737 |
| 47 | CASK | 0.59484137 |
| 48 | CAMK1D | 0.54110784 |
| 49 | SGK223 | 0.53598891 |
| 50 | SGK494 | 0.53598891 |
| 51 | KIT | 0.52712293 |
| 52 | EPHA4 | 0.50803473 |
| 53 | TLK1 | 0.50448685 |
| 54 | GRK6 | 0.50366210 |
| 55 | PRKG1 | 0.50217355 |
| 56 | TRIM28 | 0.50121295 |
| 57 | PTK2B | 0.48728043 |
| 58 | JAK2 | 0.48484993 |
| 59 | STK39 | 0.46857452 |
| 60 | MYLK | 0.46685716 |
| 61 | PAK1 | 0.44711940 |
| 62 | WNK4 | 0.43498963 |
| 63 | PKN1 | 0.43489847 |
| 64 | CHUK | 0.42561194 |
| 65 | PASK | 0.41607850 |
| 66 | TAOK1 | 0.41460642 |
| 67 | CSNK1E | 0.40473638 |
| 68 | PRKACA | 0.38327163 |
| 69 | ERBB3 | 0.38289114 |
| 70 | CDK5 | 0.37747574 |
| 71 | PRKD3 | 0.36602127 |
| 72 | ACVR1B | 0.35015113 |
| 73 | PRKAA2 | 0.33408088 |
| 74 | BRSK2 | 0.32224211 |
| 75 | NME1 | 0.31141181 |
| 76 | CDK4 | 0.30341985 |
| 77 | PRKCA | 0.27873317 |
| 78 | MTOR | 0.27742358 |
| 79 | ADRBK1 | 0.27352649 |
| 80 | DAPK2 | 0.26300400 |
| 81 | TAOK3 | 0.26110693 |
| 82 | PRKACG | 0.26110634 |
| 83 | PRKCQ | 0.26054738 |
| 84 | NTRK2 | 0.25712413 |
| 85 | PRKACB | 0.24990092 |
| 86 | ALK | 0.24727885 |
| 87 | MAPKAPK5 | 0.24415257 |
| 88 | GRK5 | 0.22499420 |
| 89 | CSNK1G2 | 0.21860917 |
| 90 | ABL2 | 0.21396669 |
| 91 | CSNK1G1 | 0.21097307 |
| 92 | AKT1 | 0.20361178 |
| 93 | IRAK1 | 0.20321989 |
| 94 | PDK1 | 0.19742432 |
| 95 | PRKCD | 0.19521295 |
| 96 | RPS6KA3 | 0.19285713 |
| 97 | IKBKB | 0.18080924 |
| 98 | GSK3B | 0.18021029 |
| 99 | SGK3 | 0.17979790 |
| 100 | FGFR3 | 0.17870650 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 5.78555076 |
| 2 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 4.35638836 |
| 3 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 4.19497324 |
| 4 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 3.53495059 |
| 5 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 3.23311843 |
| 6 | Insulin secretion_Homo sapiens_hsa04911 | 2.78470657 |
| 7 | GABAergic synapse_Homo sapiens_hsa04727 | 2.29328797 |
| 8 | Olfactory transduction_Homo sapiens_hsa04740 | 1.77512610 |
| 9 | Parkinsons disease_Homo sapiens_hsa05012 | 1.64112850 |
| 10 | Gastric acid secretion_Homo sapiens_hsa04971 | 1.60025465 |
| 11 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.56282130 |
| 12 | Lysine degradation_Homo sapiens_hsa00310 | 1.56063345 |
| 13 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.54665340 |
| 14 | AMPK signaling pathway_Homo sapiens_hsa04152 | 1.49380889 |
| 15 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.48569524 |
| 16 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.48031207 |
| 17 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.47340121 |
| 18 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 1.45263855 |
| 19 | Long-term depression_Homo sapiens_hsa04730 | 1.40582380 |
| 20 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 1.38703403 |
| 21 | N-Glycan biosynthesis_Homo sapiens_hsa00510 | 1.37634331 |
| 22 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 1.25955041 |
| 23 | Phototransduction_Homo sapiens_hsa04744 | 1.25351087 |
| 24 | Ribosome_Homo sapiens_hsa03010 | 1.25102671 |
| 25 | Renin secretion_Homo sapiens_hsa04924 | 1.20642386 |
| 26 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.14652559 |
| 27 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 1.13124713 |
| 28 | Type II diabetes mellitus_Homo sapiens_hsa04930 | 1.11807045 |
| 29 | Longevity regulating pathway - mammal_Homo sapiens_hsa04211 | 1.09936872 |
| 30 | Circadian rhythm_Homo sapiens_hsa04710 | 1.08040251 |
| 31 | Alcoholism_Homo sapiens_hsa05034 | 1.07753190 |
| 32 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.07081597 |
| 33 | Retinol metabolism_Homo sapiens_hsa00830 | 0.94706309 |
| 34 | Huntingtons disease_Homo sapiens_hsa05016 | 0.94702842 |
| 35 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.94378086 |
| 36 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.93542373 |
| 37 | Circadian entrainment_Homo sapiens_hsa04713 | 0.90485844 |
| 38 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.89863466 |
| 39 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.88995731 |
| 40 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 0.87071711 |
| 41 | Cocaine addiction_Homo sapiens_hsa05030 | 0.85912202 |
| 42 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.84684499 |
| 43 | Thyroid hormone synthesis_Homo sapiens_hsa04918 | 0.84493602 |
| 44 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.82111077 |
| 45 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.81656206 |
| 46 | RNA transport_Homo sapiens_hsa03013 | 0.79934441 |
| 47 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.79811038 |
| 48 | Endocytosis_Homo sapiens_hsa04144 | 0.79128542 |
| 49 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.77859203 |
| 50 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.77294838 |
| 51 | Taste transduction_Homo sapiens_hsa04742 | 0.76583476 |
| 52 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.76557995 |
| 53 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.75426000 |
| 54 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.73533717 |
| 55 | Histidine metabolism_Homo sapiens_hsa00340 | 0.73314667 |
| 56 | Galactose metabolism_Homo sapiens_hsa00052 | 0.73118907 |
| 57 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.72587400 |
| 58 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.71292333 |
| 59 | Tyrosine metabolism_Homo sapiens_hsa00350 | 0.69231391 |
| 60 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.66022998 |
| 61 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.65484149 |
| 62 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.63570721 |
| 63 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.63303663 |
| 64 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.61136552 |
| 65 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 0.58835421 |
| 66 | Morphine addiction_Homo sapiens_hsa05032 | 0.58712761 |
| 67 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.57625714 |
| 68 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.57505568 |
| 69 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.57454600 |
| 70 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.57361408 |
| 71 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.57037092 |
| 72 | Salivary secretion_Homo sapiens_hsa04970 | 0.53451142 |
| 73 | RNA degradation_Homo sapiens_hsa03018 | 0.52485615 |
| 74 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.51119626 |
| 75 | Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141 | 0.51114553 |
| 76 | Axon guidance_Homo sapiens_hsa04360 | 0.49775426 |
| 77 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.49589155 |
| 78 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.48965172 |
| 79 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.48937026 |
| 80 | Melanogenesis_Homo sapiens_hsa04916 | 0.48526491 |
| 81 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.46895240 |
| 82 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.46056950 |
| 83 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.44746250 |
| 84 | Alzheimers disease_Homo sapiens_hsa05010 | 0.43503533 |
| 85 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.43268816 |
| 86 | Fructose and mannose metabolism_Homo sapiens_hsa00051 | 0.42979785 |
| 87 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 0.42222117 |
| 88 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.40331554 |
| 89 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.39596005 |
| 90 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.39448276 |
| 91 | Longevity regulating pathway - multiple species_Homo sapiens_hsa04213 | 0.38970027 |
| 92 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.38806434 |
| 93 | Mineral absorption_Homo sapiens_hsa04978 | 0.38553931 |
| 94 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.38491377 |
| 95 | Gap junction_Homo sapiens_hsa04540 | 0.37976115 |
| 96 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.37735895 |
| 97 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.36329824 |
| 98 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.32759421 |
| 99 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.30177063 |
| 100 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.26835123 |

