

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | melanin biosynthetic process (GO:0042438) | 9.43444854 |
| 2 | melanin metabolic process (GO:0006582) | 8.61184777 |
| 3 | secondary metabolite biosynthetic process (GO:0044550) | 8.06178400 |
| 4 | microtubule depolymerization (GO:0007019) | 6.22496899 |
| 5 | acrosome reaction (GO:0007340) | 6.07490692 |
| 6 | regulation of meiosis I (GO:0060631) | 5.85388304 |
| 7 | fusion of sperm to egg plasma membrane (GO:0007342) | 5.40744097 |
| 8 | attachment of spindle microtubules to kinetochore (GO:0008608) | 5.21545908 |
| 9 | response to pheromone (GO:0019236) | 5.15744680 |
| 10 | synapsis (GO:0007129) | 5.10796990 |
| 11 | regulation of DNA endoreduplication (GO:0032875) | 4.86533393 |
| 12 | microtubule polymerization or depolymerization (GO:0031109) | 4.85739918 |
| 13 | sperm motility (GO:0030317) | 4.81206623 |
| 14 | negative regulation of calcium ion-dependent exocytosis (GO:0045955) | 4.75911989 |
| 15 | ketone body metabolic process (GO:1902224) | 4.52687356 |
| 16 | developmental pigmentation (GO:0048066) | 4.48938292 |
| 17 | polyol catabolic process (GO:0046174) | 4.48245588 |
| 18 | phenol-containing compound biosynthetic process (GO:0046189) | 4.40964940 |
| 19 | centriole replication (GO:0007099) | 4.38710410 |
| 20 | single strand break repair (GO:0000012) | 4.37800122 |
| 21 | negative regulation of DNA-dependent DNA replication (GO:2000104) | 4.37613120 |
| 22 | inositol phosphate catabolic process (GO:0071545) | 4.28426730 |
| 23 | calcium ion-dependent exocytosis (GO:0017156) | 4.26154065 |
| 24 | plasma membrane fusion (GO:0045026) | 4.13671521 |
| 25 | retinal rod cell development (GO:0046548) | 4.09767344 |
| 26 | sister chromatid cohesion (GO:0007062) | 3.99943963 |
| 27 | piRNA metabolic process (GO:0034587) | 3.98887749 |
| 28 | RNA localization (GO:0006403) | 3.95532106 |
| 29 | intra-S DNA damage checkpoint (GO:0031573) | 3.94065089 |
| 30 | G-protein coupled glutamate receptor signaling pathway (GO:0007216) | 3.89429244 |
| 31 | auditory receptor cell stereocilium organization (GO:0060088) | 3.85153517 |
| 32 | regulation of cilium movement (GO:0003352) | 3.77416605 |
| 33 | melanosome organization (GO:0032438) | 3.69344602 |
| 34 | microtubule anchoring (GO:0034453) | 3.64353570 |
| 35 | regulation of nuclear cell cycle DNA replication (GO:0033262) | 3.58831531 |
| 36 | pigment granule organization (GO:0048753) | 3.50570935 |
| 37 | chromosome organization involved in meiosis (GO:0070192) | 3.43956195 |
| 38 | phosphorylated carbohydrate dephosphorylation (GO:0046838) | 3.41038616 |
| 39 | inositol phosphate dephosphorylation (GO:0046855) | 3.41038616 |
| 40 | negative regulation of meiosis (GO:0045835) | 3.40933455 |
| 41 | reciprocal meiotic recombination (GO:0007131) | 3.40774937 |
| 42 | reciprocal DNA recombination (GO:0035825) | 3.40774937 |
| 43 | chromosome condensation (GO:0030261) | 3.37783838 |
| 44 | sympathetic nervous system development (GO:0048485) | 3.36415592 |
| 45 | DNA packaging (GO:0006323) | 3.36146498 |
| 46 | melanocyte differentiation (GO:0030318) | 3.33645416 |
| 47 | centrosome duplication (GO:0051298) | 3.32443490 |
| 48 | protein localization to kinetochore (GO:0034501) | 3.28925273 |
| 49 | regulation of centriole replication (GO:0046599) | 3.28736531 |
| 50 | detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) | 3.23036221 |
| 51 | pigment cell differentiation (GO:0050931) | 3.17532849 |
| 52 | DNA methylation involved in gamete generation (GO:0043046) | 3.14752103 |
| 53 | positive regulation of excitatory postsynaptic membrane potential (GO:2000463) | 3.14195044 |
| 54 | C4-dicarboxylate transport (GO:0015740) | 3.12748307 |
| 55 | seminiferous tubule development (GO:0072520) | 3.12468768 |
| 56 | spermatid development (GO:0007286) | 3.07236064 |
| 57 | male meiosis (GO:0007140) | 3.05827295 |
| 58 | short-term memory (GO:0007614) | 3.01022771 |
| 59 | oogenesis (GO:0048477) | 2.99238154 |
| 60 | histone exchange (GO:0043486) | 2.98786408 |
| 61 | inner ear receptor stereocilium organization (GO:0060122) | 2.98274169 |
| 62 | cell wall macromolecule metabolic process (GO:0044036) | 2.97284603 |
| 63 | centriole assembly (GO:0098534) | 2.96862038 |
| 64 | dopamine transport (GO:0015872) | 2.95657311 |
| 65 | epithelial cilium movement (GO:0003351) | 2.94674190 |
| 66 | postsynaptic membrane organization (GO:0001941) | 2.94121456 |
| 67 | male meiosis I (GO:0007141) | 2.93347278 |
| 68 | regulation of inhibitory postsynaptic membrane potential (GO:0060080) | 2.91741018 |
| 69 | regulation of pigment cell differentiation (GO:0050932) | 2.89337914 |
| 70 | negative regulation of organelle assembly (GO:1902116) | 2.88321056 |
| 71 | telomere maintenance via telomerase (GO:0007004) | 2.87585378 |
| 72 | mitotic G2 DNA damage checkpoint (GO:0007095) | 2.84886643 |
| 73 | neuroepithelial cell differentiation (GO:0060563) | 2.82364541 |
| 74 | protein polyglutamylation (GO:0018095) | 2.81757215 |
| 75 | negative regulation of neurotransmitter transport (GO:0051589) | 2.77332878 |
| 76 | positive regulation of dendritic spine morphogenesis (GO:0061003) | 2.76263321 |
| 77 | neural tube formation (GO:0001841) | 2.75701764 |
| 78 | positive regulation of protein autophosphorylation (GO:0031954) | 2.75392404 |
| 79 | negative regulation of microtubule polymerization (GO:0031115) | 2.74477403 |
| 80 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 2.74055353 |
| 81 | cell wall macromolecule catabolic process (GO:0016998) | 2.72319146 |
| 82 | microtubule cytoskeleton organization involved in mitosis (GO:1902850) | 2.72020954 |
| 83 | spermatogenesis (GO:0007283) | 2.70909821 |
| 84 | male gamete generation (GO:0048232) | 2.70407763 |
| 85 | protein K11-linked deubiquitination (GO:0035871) | 2.69270215 |
| 86 | microtubule severing (GO:0051013) | 2.65459407 |
| 87 | microtubule nucleation (GO:0007020) | 2.65208709 |
| 88 | mitotic sister chromatid segregation (GO:0000070) | 2.64274379 |
| 89 | meiotic nuclear division (GO:0007126) | 2.63636026 |
| 90 | mitotic G2/M transition checkpoint (GO:0044818) | 2.62419495 |
| 91 | histone mRNA catabolic process (GO:0071044) | 2.60628121 |
| 92 | meiotic cell cycle process (GO:1903046) | 2.59153953 |
| 93 | recombinational repair (GO:0000725) | 2.58800818 |
| 94 | gamete generation (GO:0007276) | 2.58001457 |
| 95 | double-strand break repair via homologous recombination (GO:0000724) | 2.57129921 |
| 96 | regulation of DNA-dependent DNA replication (GO:0090329) | 2.56789585 |
| 97 | negative regulation of meiotic cell cycle (GO:0051447) | 2.56409231 |
| 98 | double-strand break repair via nonhomologous end joining (GO:0006303) | 2.55860380 |
| 99 | non-recombinational repair (GO:0000726) | 2.55860380 |
| 100 | presynaptic membrane assembly (GO:0097105) | 2.55000477 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 3.78379358 |
| 2 | ZNF274_21170338_ChIP-Seq_K562_Hela | 3.16853862 |
| 3 | GBX2_23144817_ChIP-Seq_PC3_Human | 3.06477340 |
| 4 | FUS_26573619_Chip-Seq_HEK293_Human | 2.85369785 |
| 5 | VDR_22108803_ChIP-Seq_LS180_Human | 2.75344776 |
| 6 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 2.56230805 |
| 7 | * CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.51674035 |
| 8 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 2.45806251 |
| 9 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 2.43927802 |
| 10 | ER_23166858_ChIP-Seq_MCF-7_Human | 2.34238981 |
| 11 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 2.31386655 |
| 12 | E2F7_22180533_ChIP-Seq_HELA_Human | 2.26376671 |
| 13 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.23048452 |
| 14 | P300_19829295_ChIP-Seq_ESCs_Human | 2.17699732 |
| 15 | * UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 2.05286846 |
| 16 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.05220193 |
| 17 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 2.04953524 |
| 18 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.01436877 |
| 19 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.96223747 |
| 20 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.94686855 |
| 21 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.94469064 |
| 22 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.90129318 |
| 23 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.90129318 |
| 24 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.88825153 |
| 25 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.86953360 |
| 26 | CHD7_19251738_ChIP-ChIP_MESCs_Mouse | 1.85242844 |
| 27 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.85005467 |
| 28 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.84441112 |
| 29 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.84441112 |
| 30 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.83531676 |
| 31 | AR_25329375_ChIP-Seq_VCAP_Human | 1.79653175 |
| 32 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.78449006 |
| 33 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.74293149 |
| 34 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.73915231 |
| 35 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.71657227 |
| 36 | EWS_26573619_Chip-Seq_HEK293_Human | 1.69326578 |
| 37 | STAT3_23295773_ChIP-Seq_U87_Human | 1.67381520 |
| 38 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.67239157 |
| 39 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.64982501 |
| 40 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.63404579 |
| 41 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.60453419 |
| 42 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.56670974 |
| 43 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.53108511 |
| 44 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.52421332 |
| 45 | TCF4_23295773_ChIP-Seq_U87_Human | 1.52214717 |
| 46 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.50911979 |
| 47 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.50767945 |
| 48 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.49508277 |
| 49 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.48756408 |
| 50 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.44998469 |
| 51 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.44021514 |
| 52 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.43599731 |
| 53 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.43562646 |
| 54 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.42199730 |
| 55 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.37794499 |
| 56 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.35918486 |
| 57 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.35585161 |
| 58 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.35402062 |
| 59 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.35232966 |
| 60 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.32381786 |
| 61 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.29085600 |
| 62 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.29027768 |
| 63 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.26085911 |
| 64 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.25284356 |
| 65 | * SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.24759103 |
| 66 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.23382572 |
| 67 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.20700066 |
| 68 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.20495505 |
| 69 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.19735583 |
| 70 | LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.19490305 |
| 71 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.18944667 |
| 72 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.18944667 |
| 73 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.18479878 |
| 74 | CMYC_18555785_Chip-Seq_ESCs_Mouse | 1.13933835 |
| 75 | DMRT1_21621532_ChIP-ChIP_FETAL_Ovary | 1.13366642 |
| 76 | E2F1_18555785_Chip-Seq_ESCs_Mouse | 1.12901866 |
| 77 | CEBPB_26923725_Chip-Seq_MESODERM_Mouse | 1.10476004 |
| 78 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.10141273 |
| 79 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.09359016 |
| 80 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.08922251 |
| 81 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.06915537 |
| 82 | CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.06865158 |
| 83 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 1.05843921 |
| 84 | TP53_16413492_ChIP-PET_HCT116_Human | 1.05734487 |
| 85 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 1.05615695 |
| 86 | SUZ12_18555785_Chip-Seq_ESCs_Mouse | 1.05477037 |
| 87 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 1.05380419 |
| 88 | OCT4_21477851_ChIP-Seq_ESCs_Mouse | 1.05191050 |
| 89 | OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.05180196 |
| 90 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.04777303 |
| 91 | STAT3_18555785_Chip-Seq_ESCs_Mouse | 1.03390774 |
| 92 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.02606970 |
| 93 | NFYA_21822215_ChIP-Seq_K562_Human | 1.01139168 |
| 94 | NFYB_21822215_ChIP-Seq_K562_Human | 1.01123418 |
| 95 | P300_18555785_Chip-Seq_ESCs_Mouse | 1.00362757 |
| 96 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 0.99414504 |
| 97 | KDM2B_26808549_Chip-Seq_REH_Human | 0.99223159 |
| 98 | OCT4_18555785_Chip-Seq_ESCs_Mouse | 0.99108471 |
| 99 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 0.98224460 |
| 100 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 0.97871425 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0000372_irregular_coat_pigmentation | 7.04831085 |
| 2 | MP0005171_absent_coat_pigmentation | 4.47188839 |
| 3 | MP0005408_hypopigmentation | 4.22715751 |
| 4 | MP0000015_abnormal_ear_pigmentation | 4.10345856 |
| 5 | MP0002102_abnormal_ear_morphology | 4.04939573 |
| 6 | MP0005075_abnormal_melanosome_morpholog | 3.75174083 |
| 7 | MP0003136_yellow_coat_color | 3.33895061 |
| 8 | MP0005410_abnormal_fertilization | 2.96036429 |
| 9 | MP0005377_hearing/vestibular/ear_phenot | 2.78106924 |
| 10 | MP0003878_abnormal_ear_physiology | 2.78106924 |
| 11 | MP0002095_abnormal_skin_pigmentation | 2.76423959 |
| 12 | MP0003950_abnormal_plasma_membrane | 2.73571483 |
| 13 | MP0003646_muscle_fatigue | 2.67699807 |
| 14 | MP0005174_abnormal_tail_pigmentation | 2.54769913 |
| 15 | MP0000371_diluted_coat_color | 2.53234786 |
| 16 | MP0000569_abnormal_digit_pigmentation | 2.39124134 |
| 17 | MP0008058_abnormal_DNA_repair | 2.35965297 |
| 18 | MP0001324_abnormal_eye_pigmentation | 2.24813093 |
| 19 | MP0008057_abnormal_DNA_replication | 2.22668834 |
| 20 | MP0003806_abnormal_nucleotide_metabolis | 2.13749742 |
| 21 | MP0010094_abnormal_chromosome_stability | 1.93079918 |
| 22 | MP0002090_abnormal_vision | 1.84598972 |
| 23 | MP0002938_white_spotting | 1.84304160 |
| 24 | MP0005551_abnormal_eye_electrophysiolog | 1.83045520 |
| 25 | MP0005253_abnormal_eye_physiology | 1.82213840 |
| 26 | MP0003787_abnormal_imprinting | 1.81244369 |
| 27 | MP0004381_abnormal_hair_follicle | 1.77573875 |
| 28 | MP0005257_abnormal_intraocular_pressure | 1.76745310 |
| 29 | MP0005670_abnormal_white_adipose | 1.73134034 |
| 30 | MP0006072_abnormal_retinal_apoptosis | 1.65722516 |
| 31 | MP0008877_abnormal_DNA_methylation | 1.65690371 |
| 32 | MP0002822_catalepsy | 1.64707764 |
| 33 | MP0003718_maternal_effect | 1.61390418 |
| 34 | MP0002736_abnormal_nociception_after | 1.51925802 |
| 35 | MP0006292_abnormal_olfactory_placode | 1.43407245 |
| 36 | MP0003698_abnormal_male_reproductive | 1.38322346 |
| 37 | MP0001501_abnormal_sleep_pattern | 1.37586318 |
| 38 | MP0001188_hyperpigmentation | 1.35137964 |
| 39 | MP0002075_abnormal_coat/hair_pigmentati | 1.32261051 |
| 40 | MP0005386_behavior/neurological_phenoty | 1.27098090 |
| 41 | MP0004924_abnormal_behavior | 1.27098090 |
| 42 | MP0002653_abnormal_ependyma_morphology | 1.23160754 |
| 43 | MP0001929_abnormal_gametogenesis | 1.23143087 |
| 44 | MP0001968_abnormal_touch/_nociception | 1.19739472 |
| 45 | MP0003880_abnormal_central_pattern | 1.18322830 |
| 46 | MP0001186_pigmentation_phenotype | 1.12367211 |
| 47 | MP0002234_abnormal_pharynx_morphology | 1.12325177 |
| 48 | MP0005248_abnormal_Harderian_gland | 1.11289314 |
| 49 | MP0003077_abnormal_cell_cycle | 1.09900850 |
| 50 | MP0009745_abnormal_behavioral_response | 1.06977850 |
| 51 | MP0005409_darkened_coat_color | 1.04056103 |
| 52 | MP0001984_abnormal_olfaction | 0.95275331 |
| 53 | MP0009046_muscle_twitch | 0.94008178 |
| 54 | MP0002638_abnormal_pupillary_reflex | 0.93315699 |
| 55 | MP0005187_abnormal_penis_morphology | 0.93302827 |
| 56 | MP0000427_abnormal_hair_cycle | 0.89454144 |
| 57 | MP0002272_abnormal_nervous_system | 0.88223644 |
| 58 | MP0000647_abnormal_sebaceous_gland | 0.85345174 |
| 59 | MP0001486_abnormal_startle_reflex | 0.84250345 |
| 60 | MP0005197_abnormal_uvea_morphology | 0.84045069 |
| 61 | MP0005391_vision/eye_phenotype | 0.83060804 |
| 62 | MP0002064_seizures | 0.82476018 |
| 63 | MP0005195_abnormal_posterior_eye | 0.79334377 |
| 64 | MP0005645_abnormal_hypothalamus_physiol | 0.77962049 |
| 65 | MP0002877_abnormal_melanocyte_morpholog | 0.77717341 |
| 66 | MP0008872_abnormal_physiological_respon | 0.75584708 |
| 67 | MP0002282_abnormal_trachea_morphology | 0.72642558 |
| 68 | MP0004885_abnormal_endolymph | 0.72577529 |
| 69 | MP0002229_neurodegeneration | 0.72143655 |
| 70 | MP0002210_abnormal_sex_determination | 0.69149667 |
| 71 | MP0001529_abnormal_vocalization | 0.69121706 |
| 72 | MP0005646_abnormal_pituitary_gland | 0.66194205 |
| 73 | MP0003121_genomic_imprinting | 0.65766262 |
| 74 | MP0001919_abnormal_reproductive_system | 0.63211390 |
| 75 | MP0003635_abnormal_synaptic_transmissio | 0.62511026 |
| 76 | MP0002752_abnormal_somatic_nervous | 0.62134012 |
| 77 | MP0002161_abnormal_fertility/fecundity | 0.61997762 |
| 78 | MP0000631_abnormal_neuroendocrine_gland | 0.61752665 |
| 79 | MP0003890_abnormal_embryonic-extraembry | 0.60259753 |
| 80 | MP0006276_abnormal_autonomic_nervous | 0.59961884 |
| 81 | MP0001293_anophthalmia | 0.59598898 |
| 82 | MP0000026_abnormal_inner_ear | 0.59407471 |
| 83 | MP0002396_abnormal_hematopoietic_system | 0.59335802 |
| 84 | MP0001485_abnormal_pinna_reflex | 0.59187553 |
| 85 | MP0002751_abnormal_autonomic_nervous | 0.58636135 |
| 86 | MP0002177_abnormal_outer_ear | 0.56983766 |
| 87 | MP0002735_abnormal_chemical_nociception | 0.54196579 |
| 88 | MP0002909_abnormal_adrenal_gland | 0.53526118 |
| 89 | MP0004085_abnormal_heartbeat | 0.53287143 |
| 90 | MP0002067_abnormal_sensory_capabilities | 0.51584447 |
| 91 | MP0008007_abnormal_cellular_replicative | 0.50682910 |
| 92 | MP0001963_abnormal_hearing_physiology | 0.50521439 |
| 93 | MP0004742_abnormal_vestibular_system | 0.50205509 |
| 94 | MP0002882_abnormal_neuron_morphology | 0.49441302 |
| 95 | MP0000955_abnormal_spinal_cord | 0.48694606 |
| 96 | MP0000653_abnormal_sex_gland | 0.48466431 |
| 97 | MP0004142_abnormal_muscle_tone | 0.48298798 |
| 98 | MP0004957_abnormal_blastocyst_morpholog | 0.46480019 |
| 99 | MP0004859_abnormal_synaptic_plasticity | 0.45440154 |
| 100 | MP0005389_reproductive_system_phenotype | 0.45106514 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Aplasia/Hypoplasia of the macula (HP:0008059) | 5.31453749 |
| 2 | Volvulus (HP:0002580) | 5.30962286 |
| 3 | Aplasia/Hypoplasia affecting the retina (HP:0008061) | 4.91218877 |
| 4 | Ocular albinism (HP:0001107) | 4.70234430 |
| 5 | Hypoplasia of the fovea (HP:0007750) | 4.61013043 |
| 6 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 4.61013043 |
| 7 | Iris hypopigmentation (HP:0007730) | 4.42916589 |
| 8 | Hyperventilation (HP:0002883) | 4.21238580 |
| 9 | Blue irides (HP:0000635) | 4.00783737 |
| 10 | Abnormality of the fovea (HP:0000493) | 3.90190295 |
| 11 | Hypopigmentation of the fundus (HP:0007894) | 3.87129907 |
| 12 | White forelock (HP:0002211) | 3.57544527 |
| 13 | Generalized hypopigmentation (HP:0007513) | 3.55904639 |
| 14 | Congenital stationary night blindness (HP:0007642) | 3.51901690 |
| 15 | Patchy hypopigmentation of hair (HP:0011365) | 3.44835537 |
| 16 | Congenital sensorineural hearing impairment (HP:0008527) | 3.42160190 |
| 17 | Pancreatic cysts (HP:0001737) | 3.39854372 |
| 18 | Bifid tongue (HP:0010297) | 3.12935238 |
| 19 | Pancreatic fibrosis (HP:0100732) | 3.05089481 |
| 20 | Frequent falls (HP:0002359) | 3.04286303 |
| 21 | Abnormality of the astrocytes (HP:0100707) | 3.02899363 |
| 22 | Astrocytoma (HP:0009592) | 3.02899363 |
| 23 | True hermaphroditism (HP:0010459) | 2.97691140 |
| 24 | Cystic liver disease (HP:0006706) | 2.92925646 |
| 25 | Abnormality of midbrain morphology (HP:0002418) | 2.87950887 |
| 26 | Molar tooth sign on MRI (HP:0002419) | 2.87950887 |
| 27 | Freckling (HP:0001480) | 2.87780344 |
| 28 | Gaze-evoked nystagmus (HP:0000640) | 2.85449703 |
| 29 | Glioma (HP:0009733) | 2.83007382 |
| 30 | Astigmatism (HP:0000483) | 2.81918970 |
| 31 | Chromsome breakage (HP:0040012) | 2.78340793 |
| 32 | Decreased central vision (HP:0007663) | 2.70126062 |
| 33 | Abnormal auditory evoked potentials (HP:0006958) | 2.64309065 |
| 34 | Amblyopia (HP:0000646) | 2.62071084 |
| 35 | Horizontal nystagmus (HP:0000666) | 2.61419655 |
| 36 | Nephronophthisis (HP:0000090) | 2.55303500 |
| 37 | Albinism (HP:0001022) | 2.54866262 |
| 38 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 2.53997282 |
| 39 | Absent speech (HP:0001344) | 2.51616031 |
| 40 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 2.50257758 |
| 41 | Severe visual impairment (HP:0001141) | 2.47978476 |
| 42 | Abnormality of the labia minora (HP:0012880) | 2.45282925 |
| 43 | Abnormality of macular pigmentation (HP:0008002) | 2.40259279 |
| 44 | Meckel diverticulum (HP:0002245) | 2.38913440 |
| 45 | Abnormality of the ileum (HP:0001549) | 2.36930905 |
| 46 | Abnormality of chromosome stability (HP:0003220) | 2.36888493 |
| 47 | Progressive cerebellar ataxia (HP:0002073) | 2.33636062 |
| 48 | Hypochromic microcytic anemia (HP:0004840) | 2.31699067 |
| 49 | Retinal dysplasia (HP:0007973) | 2.30336132 |
| 50 | Megalencephaly (HP:0001355) | 2.27565975 |
| 51 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 2.25717447 |
| 52 | Duodenal stenosis (HP:0100867) | 2.23557892 |
| 53 | Small intestinal stenosis (HP:0012848) | 2.23557892 |
| 54 | Absent/shortened dynein arms (HP:0200106) | 2.22153610 |
| 55 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 2.22153610 |
| 56 | Sloping forehead (HP:0000340) | 2.20313859 |
| 57 | Chronic hepatic failure (HP:0100626) | 2.20117110 |
| 58 | Hamartoma of the eye (HP:0010568) | 2.16474464 |
| 59 | Hypoplastic ischia (HP:0003175) | 2.16058442 |
| 60 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.13898897 |
| 61 | Generalized hypopigmentation of hair (HP:0011358) | 2.12989348 |
| 62 | Focal motor seizures (HP:0011153) | 2.10611703 |
| 63 | Congenital hepatic fibrosis (HP:0002612) | 2.07876880 |
| 64 | Attenuation of retinal blood vessels (HP:0007843) | 2.04889987 |
| 65 | Abnormality of the renal medulla (HP:0100957) | 2.03820604 |
| 66 | Abnormality of the preputium (HP:0100587) | 2.02141382 |
| 67 | Ependymoma (HP:0002888) | 2.01783493 |
| 68 | Long clavicles (HP:0000890) | 2.01679709 |
| 69 | Cutaneous melanoma (HP:0012056) | 1.99446361 |
| 70 | Abnormality of chromosome segregation (HP:0002916) | 1.99281719 |
| 71 | Neuroendocrine neoplasm (HP:0100634) | 1.97639210 |
| 72 | Intestinal atresia (HP:0011100) | 1.96960773 |
| 73 | Small hand (HP:0200055) | 1.92679417 |
| 74 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.91200906 |
| 75 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 1.91186176 |
| 76 | Clubbing of toes (HP:0100760) | 1.88338097 |
| 77 | Thickened helices (HP:0000391) | 1.87354789 |
| 78 | Sclerocornea (HP:0000647) | 1.87297451 |
| 79 | Photophobia (HP:0000613) | 1.83816610 |
| 80 | Facial cleft (HP:0002006) | 1.83316332 |
| 81 | Anencephaly (HP:0002323) | 1.82328882 |
| 82 | Widely spaced teeth (HP:0000687) | 1.82078438 |
| 83 | Cupped ear (HP:0000378) | 1.81457288 |
| 84 | Abnormality of the ischium (HP:0003174) | 1.80997305 |
| 85 | Oculomotor apraxia (HP:0000657) | 1.80823100 |
| 86 | Absent frontal sinuses (HP:0002688) | 1.80353350 |
| 87 | Inability to walk (HP:0002540) | 1.79524890 |
| 88 | Abnormality of the duodenum (HP:0002246) | 1.79197389 |
| 89 | Tented upper lip vermilion (HP:0010804) | 1.78685172 |
| 90 | Meningioma (HP:0002858) | 1.78413172 |
| 91 | Neoplasm of striated muscle (HP:0009728) | 1.77146527 |
| 92 | Limb dystonia (HP:0002451) | 1.76952953 |
| 93 | Abnormality of the nasal septum (HP:0000419) | 1.76078951 |
| 94 | Tachypnea (HP:0002789) | 1.75991632 |
| 95 | Renal dysplasia (HP:0000110) | 1.75936284 |
| 96 | Focal seizures (HP:0007359) | 1.74939210 |
| 97 | Fibular hypoplasia (HP:0003038) | 1.74738888 |
| 98 | Drooling (HP:0002307) | 1.73906119 |
| 99 | Neoplasm of the peripheral nervous system (HP:0100007) | 1.73786243 |
| 100 | Male pseudohermaphroditism (HP:0000037) | 1.72206477 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | NEK1 | 4.29019461 |
| 2 | PLK4 | 4.14917328 |
| 3 | WNK3 | 3.99724652 |
| 4 | WEE1 | 3.82206730 |
| 5 | FRK | 3.42329505 |
| 6 | MARK1 | 3.29847486 |
| 7 | MAPK13 | 2.75089190 |
| 8 | PLK2 | 2.70421833 |
| 9 | NEK2 | 2.29447086 |
| 10 | PNCK | 2.28555345 |
| 11 | ACVR1B | 2.06004816 |
| 12 | MAP4K2 | 2.03414857 |
| 13 | INSRR | 1.84723661 |
| 14 | STK38L | 1.80106140 |
| 15 | PTK2B | 1.77736229 |
| 16 | PRKD3 | 1.75972163 |
| 17 | UHMK1 | 1.52552429 |
| 18 | BRD4 | 1.49794701 |
| 19 | AKT3 | 1.46368230 |
| 20 | PDK2 | 1.41551957 |
| 21 | SIK2 | 1.39638021 |
| 22 | MARK3 | 1.37838480 |
| 23 | STK3 | 1.29407444 |
| 24 | MST1R | 1.26134458 |
| 25 | BMPR2 | 1.25250044 |
| 26 | STK38 | 1.23373087 |
| 27 | CCNB1 | 1.20952624 |
| 28 | LATS1 | 1.19601828 |
| 29 | BMPR1B | 1.15573022 |
| 30 | BRSK2 | 1.13492359 |
| 31 | NUAK1 | 1.13436461 |
| 32 | ZAK | 1.10302166 |
| 33 | FGR | 1.08915073 |
| 34 | ADRBK2 | 1.07501289 |
| 35 | PLK3 | 1.01692881 |
| 36 | SRPK1 | 1.00148646 |
| 37 | PIK3CG | 0.99224546 |
| 38 | TRIM28 | 0.95448843 |
| 39 | BRSK1 | 0.89579117 |
| 40 | CSNK1G2 | 0.87103400 |
| 41 | ERBB2 | 0.80315261 |
| 42 | CASK | 0.80236254 |
| 43 | MKNK2 | 0.79897134 |
| 44 | GRK5 | 0.77755763 |
| 45 | EIF2AK1 | 0.76147862 |
| 46 | PRKCH | 0.75437515 |
| 47 | ERBB3 | 0.73786018 |
| 48 | CSNK1G3 | 0.73245251 |
| 49 | PKN1 | 0.72385896 |
| 50 | SIK3 | 0.72328829 |
| 51 | PRKCG | 0.71265944 |
| 52 | PBK | 0.70621304 |
| 53 | CAMK2A | 0.70153706 |
| 54 | TYK2 | 0.67467050 |
| 55 | BUB1 | 0.66466196 |
| 56 | YES1 | 0.65511640 |
| 57 | ATR | 0.65205162 |
| 58 | MAP3K12 | 0.65167506 |
| 59 | PLK1 | 0.63220681 |
| 60 | CDK7 | 0.62286691 |
| 61 | CSNK1G1 | 0.61386668 |
| 62 | PRKCE | 0.60440066 |
| 63 | EIF2AK3 | 0.58653196 |
| 64 | ATM | 0.58479708 |
| 65 | DDR2 | 0.58315923 |
| 66 | DYRK2 | 0.57909416 |
| 67 | DYRK1A | 0.54163932 |
| 68 | GRK7 | 0.53670961 |
| 69 | CDK3 | 0.53604485 |
| 70 | MINK1 | 0.53531625 |
| 71 | FGFR2 | 0.53411719 |
| 72 | CSNK1D | 0.52845071 |
| 73 | TNIK | 0.52763232 |
| 74 | GRK1 | 0.52483241 |
| 75 | CSNK1A1L | 0.52032927 |
| 76 | CHEK2 | 0.50569092 |
| 77 | PAK3 | 0.50360658 |
| 78 | CAMK1G | 0.49098953 |
| 79 | MET | 0.47695043 |
| 80 | ADRBK1 | 0.47499017 |
| 81 | CAMK4 | 0.47252648 |
| 82 | FER | 0.46979875 |
| 83 | CLK1 | 0.46877694 |
| 84 | SGK2 | 0.46797353 |
| 85 | CSNK1A1 | 0.46097606 |
| 86 | KIT | 0.45552190 |
| 87 | NTRK3 | 0.45369916 |
| 88 | NEK6 | 0.44891723 |
| 89 | CSF1R | 0.44803131 |
| 90 | PINK1 | 0.43520349 |
| 91 | PRKACB | 0.43154253 |
| 92 | CDC7 | 0.41973920 |
| 93 | TIE1 | 0.39663541 |
| 94 | FLT3 | 0.39002630 |
| 95 | CDK1 | 0.37951752 |
| 96 | DYRK3 | 0.37587854 |
| 97 | VRK1 | 0.37132986 |
| 98 | CAMK1 | 0.36939690 |
| 99 | PRKG1 | 0.36629725 |
| 100 | GSK3B | 0.36312581 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Non-homologous end-joining_Homo sapiens_hsa03450 | 6.19936543 |
| 2 | Homologous recombination_Homo sapiens_hsa03440 | 4.30682819 |
| 3 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 3.16993901 |
| 4 | Mismatch repair_Homo sapiens_hsa03430 | 3.10793009 |
| 5 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.82893953 |
| 6 | Protein export_Homo sapiens_hsa03060 | 2.50642825 |
| 7 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 2.49779907 |
| 8 | Phototransduction_Homo sapiens_hsa04744 | 2.11169989 |
| 9 | Propanoate metabolism_Homo sapiens_hsa00640 | 2.01309698 |
| 10 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.94000967 |
| 11 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.86207122 |
| 12 | Basal transcription factors_Homo sapiens_hsa03022 | 1.83759358 |
| 13 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.77748551 |
| 14 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.75461748 |
| 15 | Nicotine addiction_Homo sapiens_hsa05033 | 1.72800398 |
| 16 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.72367174 |
| 17 | Olfactory transduction_Homo sapiens_hsa04740 | 1.66582534 |
| 18 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.65102088 |
| 19 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 1.41220885 |
| 20 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.39295935 |
| 21 | Nucleotide excision repair_Homo sapiens_hsa03420 | 1.35386856 |
| 22 | DNA replication_Homo sapiens_hsa03030 | 1.35037350 |
| 23 | Taste transduction_Homo sapiens_hsa04742 | 1.32824168 |
| 24 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.31631863 |
| 25 | RNA degradation_Homo sapiens_hsa03018 | 1.29848069 |
| 26 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.24927900 |
| 27 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.21316581 |
| 28 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.19152802 |
| 29 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 1.17528008 |
| 30 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.13346101 |
| 31 | Butanoate metabolism_Homo sapiens_hsa00650 | 1.11328285 |
| 32 | Proteasome_Homo sapiens_hsa03050 | 1.10356856 |
| 33 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.08144305 |
| 34 | One carbon pool by folate_Homo sapiens_hsa00670 | 1.06315359 |
| 35 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.06148211 |
| 36 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.02433941 |
| 37 | Tryptophan metabolism_Homo sapiens_hsa00380 | 0.97540286 |
| 38 | RNA transport_Homo sapiens_hsa03013 | 0.96010542 |
| 39 | Cell cycle_Homo sapiens_hsa04110 | 0.95986748 |
| 40 | Circadian rhythm_Homo sapiens_hsa04710 | 0.95738759 |
| 41 | Circadian entrainment_Homo sapiens_hsa04713 | 0.95702411 |
| 42 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.93335870 |
| 43 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 0.92721932 |
| 44 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.92388216 |
| 45 | RNA polymerase_Homo sapiens_hsa03020 | 0.91694545 |
| 46 | Parkinsons disease_Homo sapiens_hsa05012 | 0.89558592 |
| 47 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.87558531 |
| 48 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.85460204 |
| 49 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.84377196 |
| 50 | Huntingtons disease_Homo sapiens_hsa05016 | 0.83473496 |
| 51 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.82118861 |
| 52 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.80292871 |
| 53 | Glutathione metabolism_Homo sapiens_hsa00480 | 0.79887143 |
| 54 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.79635429 |
| 55 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.79424634 |
| 56 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.78627592 |
| 57 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.77745427 |
| 58 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.74383097 |
| 59 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.71627951 |
| 60 | Morphine addiction_Homo sapiens_hsa05032 | 0.70548500 |
| 61 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.67725927 |
| 62 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.65797005 |
| 63 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.63722972 |
| 64 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.63602988 |
| 65 | Insulin secretion_Homo sapiens_hsa04911 | 0.63515889 |
| 66 | Asthma_Homo sapiens_hsa05310 | 0.60990287 |
| 67 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.59691698 |
| 68 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.57463415 |
| 69 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 0.57300974 |
| 70 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.57226065 |
| 71 | Cocaine addiction_Homo sapiens_hsa05030 | 0.56474732 |
| 72 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.55013931 |
| 73 | Salivary secretion_Homo sapiens_hsa04970 | 0.54840258 |
| 74 | Base excision repair_Homo sapiens_hsa03410 | 0.54059964 |
| 75 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.53391720 |
| 76 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.50275136 |
| 77 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.50205264 |
| 78 | Retinol metabolism_Homo sapiens_hsa00830 | 0.49625285 |
| 79 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.46650170 |
| 80 | Histidine metabolism_Homo sapiens_hsa00340 | 0.46550615 |
| 81 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.46143990 |
| 82 | Purine metabolism_Homo sapiens_hsa00230 | 0.45639994 |
| 83 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.44834324 |
| 84 | Metabolic pathways_Homo sapiens_hsa01100 | 0.43860204 |
| 85 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.41645227 |
| 86 | Long-term depression_Homo sapiens_hsa04730 | 0.41197675 |
| 87 | ABC transporters_Homo sapiens_hsa02010 | 0.38369364 |
| 88 | GABAergic synapse_Homo sapiens_hsa04727 | 0.38345375 |
| 89 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.37061974 |
| 90 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.36530071 |
| 91 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.35452233 |
| 92 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.33014715 |
| 93 | Melanoma_Homo sapiens_hsa05218 | 0.31872110 |
| 94 | SNARE interactions in vesicular transport_Homo sapiens_hsa04130 | 0.31607938 |
| 95 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.29033771 |
| 96 | Alzheimers disease_Homo sapiens_hsa05010 | 0.28228484 |
| 97 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.27974820 |
| 98 | Melanogenesis_Homo sapiens_hsa04916 | 0.27255890 |
| 99 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.25440105 |
| 100 | Allograft rejection_Homo sapiens_hsa05330 | 0.25153975 |

