

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | microtubule depolymerization (GO:0007019) | 9.68860693 |
| 2 | acrosome reaction (GO:0007340) | 8.02896976 |
| 3 | sperm motility (GO:0030317) | 6.86405009 |
| 4 | fusion of sperm to egg plasma membrane (GO:0007342) | 6.78058281 |
| 5 | microtubule polymerization or depolymerization (GO:0031109) | 6.52546477 |
| 6 | kinetochore organization (GO:0051383) | 6.37685521 |
| 7 | chromosome condensation (GO:0030261) | 6.34745042 |
| 8 | spermatid nucleus differentiation (GO:0007289) | 6.10694092 |
| 9 | spermatid development (GO:0007286) | 6.03006580 |
| 10 | DNA packaging (GO:0006323) | 5.91718427 |
| 11 | head development (GO:0060322) | 5.75865700 |
| 12 | multicellular organism reproduction (GO:0032504) | 5.62670201 |
| 13 | response to pheromone (GO:0019236) | 5.47756393 |
| 14 | kinetochore assembly (GO:0051382) | 5.39771459 |
| 15 | behavioral response to nicotine (GO:0035095) | 5.25324822 |
| 16 | plasma membrane fusion (GO:0045026) | 5.01720815 |
| 17 | synaptic transmission, cholinergic (GO:0007271) | 4.97679298 |
| 18 | sperm-egg recognition (GO:0035036) | 4.94934761 |
| 19 | histone exchange (GO:0043486) | 4.91958694 |
| 20 | axonemal dynein complex assembly (GO:0070286) | 4.65586335 |
| 21 | lateral sprouting from an epithelium (GO:0060601) | 4.60865023 |
| 22 | monoubiquitinated protein deubiquitination (GO:0035520) | 4.59017289 |
| 23 | positive regulation of T cell differentiation in thymus (GO:0033089) | 4.56076405 |
| 24 | positive regulation of glomerulus development (GO:0090193) | 4.55056688 |
| 25 | binding of sperm to zona pellucida (GO:0007339) | 4.37040244 |
| 26 | reproduction (GO:0000003) | 4.36930120 |
| 27 | cellular response to follicle-stimulating hormone stimulus (GO:0071372) | 4.31551821 |
| 28 | acrosome assembly (GO:0001675) | 4.28555993 |
| 29 | thalamus development (GO:0021794) | 4.25242144 |
| 30 | single strand break repair (GO:0000012) | 4.22812530 |
| 31 | sperm capacitation (GO:0048240) | 4.22636832 |
| 32 | RNA destabilization (GO:0050779) | 4.22293092 |
| 33 | regulation of cilium movement (GO:0003352) | 4.18014133 |
| 34 | cell-cell recognition (GO:0009988) | 4.07524712 |
| 35 | resolution of meiotic recombination intermediates (GO:0000712) | 4.05511796 |
| 36 | cilium or flagellum-dependent cell motility (GO:0001539) | 4.01715124 |
| 37 | calcium ion-dependent exocytosis (GO:0017156) | 4.01057872 |
| 38 | centriole replication (GO:0007099) | 3.96922155 |
| 39 | cellular response to virus (GO:0098586) | 3.94582082 |
| 40 | regulation of inhibitory postsynaptic membrane potential (GO:0060080) | 3.90106832 |
| 41 | polyamine biosynthetic process (GO:0006596) | 3.88541404 |
| 42 | male meiosis (GO:0007140) | 3.88410040 |
| 43 | cellular biogenic amine biosynthetic process (GO:0042401) | 3.84430362 |
| 44 | histone mRNA catabolic process (GO:0071044) | 3.82102311 |
| 45 | cranial nerve morphogenesis (GO:0021602) | 3.74178907 |
| 46 | startle response (GO:0001964) | 3.69065257 |
| 47 | epithelial cilium movement (GO:0003351) | 3.66384667 |
| 48 | amine biosynthetic process (GO:0009309) | 3.61108037 |
| 49 | meiotic chromosome segregation (GO:0045132) | 3.56925654 |
| 50 | DNA strand renaturation (GO:0000733) | 3.54461411 |
| 51 | central nervous system projection neuron axonogenesis (GO:0021952) | 3.54299967 |
| 52 | mitotic chromosome condensation (GO:0007076) | 3.53631769 |
| 53 | midbrain development (GO:0030901) | 3.51889871 |
| 54 | motile cilium assembly (GO:0044458) | 3.48697927 |
| 55 | N-terminal protein amino acid acetylation (GO:0006474) | 3.48559242 |
| 56 | response to follicle-stimulating hormone (GO:0032354) | 3.48335425 |
| 57 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.44250066 |
| 58 | hindbrain development (GO:0030902) | 3.42622617 |
| 59 | CENP-A containing nucleosome assembly (GO:0034080) | 3.40719136 |
| 60 | chromatin remodeling at centromere (GO:0031055) | 3.38599104 |
| 61 | protein targeting to Golgi (GO:0000042) | 3.38278278 |
| 62 | protein depolymerization (GO:0051261) | 3.36720916 |
| 63 | male gamete generation (GO:0048232) | 3.35484870 |
| 64 | spermatogenesis (GO:0007283) | 3.35007043 |
| 65 | regulation of phosphoprotein phosphatase activity (GO:0043666) | 3.34728285 |
| 66 | tongue development (GO:0043586) | 3.34359100 |
| 67 | centriole assembly (GO:0098534) | 3.32618969 |
| 68 | establishment of protein localization to Golgi (GO:0072600) | 3.27295967 |
| 69 | single fertilization (GO:0007338) | 3.22626742 |
| 70 | Golgi to endosome transport (GO:0006895) | 3.22055482 |
| 71 | germ cell development (GO:0007281) | 3.21744197 |
| 72 | cilium movement (GO:0003341) | 3.21284337 |
| 73 | peptidyl-threonine dephosphorylation (GO:0035970) | 3.16091166 |
| 74 | chromosome organization involved in meiosis (GO:0070192) | 3.15940179 |
| 75 | mitotic metaphase plate congression (GO:0007080) | 3.13890930 |
| 76 | cell proliferation involved in kidney development (GO:0072111) | 3.12824498 |
| 77 | gamete generation (GO:0007276) | 3.09813263 |
| 78 | protein K6-linked ubiquitination (GO:0085020) | 3.09647863 |
| 79 | dendritic spine morphogenesis (GO:0060997) | 3.08069597 |
| 80 | meiotic nuclear division (GO:0007126) | 3.07790597 |
| 81 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 3.07059224 |
| 82 | cochlea morphogenesis (GO:0090103) | 3.03407170 |
| 83 | regulation of glomerulus development (GO:0090192) | 3.02810481 |
| 84 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.01913433 |
| 85 | anatomical structure regression (GO:0060033) | 2.98490913 |
| 86 | transmission of nerve impulse (GO:0019226) | 2.97324845 |
| 87 | male sex determination (GO:0030238) | 2.95937632 |
| 88 | regulation of Rab GTPase activity (GO:0032313) | 2.95219457 |
| 89 | positive regulation of Rab GTPase activity (GO:0032851) | 2.95219457 |
| 90 | cellular process involved in reproduction in multicellular organism (GO:0022412) | 2.95203443 |
| 91 | regulation of dopamine secretion (GO:0014059) | 2.94292819 |
| 92 | sister chromatid segregation (GO:0000819) | 2.93340412 |
| 93 | genitalia morphogenesis (GO:0035112) | 2.91500473 |
| 94 | regulation of cell proliferation involved in kidney development (GO:1901722) | 2.91315237 |
| 95 | DNA demethylation (GO:0080111) | 2.87719122 |
| 96 | negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804) | 2.87494619 |
| 97 | regulation of microtubule-based movement (GO:0060632) | 2.87336178 |
| 98 | embryonic digestive tract development (GO:0048566) | 2.87279564 |
| 99 | phosphatidylethanolamine metabolic process (GO:0046337) | 2.86990419 |
| 100 | central nervous system neuron axonogenesis (GO:0021955) | 2.85738396 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 5.78414296 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 5.55247347 |
| 3 | EZH2_22144423_ChIP-Seq_EOC_Human | 5.36300412 |
| 4 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 5.30207898 |
| 5 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 3.70020524 |
| 6 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 3.24123710 |
| 7 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.76879492 |
| 8 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 2.72687152 |
| 9 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 2.66779752 |
| 10 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.44492561 |
| 11 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 2.31447732 |
| 12 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.31447732 |
| 13 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 2.20384517 |
| 14 | CBP_20019798_ChIP-Seq_JUKART_Human | 2.20384517 |
| 15 | * CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.16162281 |
| 16 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 2.15954018 |
| 17 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.12654620 |
| 18 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.96202833 |
| 19 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.83321171 |
| 20 | * FUS_26573619_Chip-Seq_HEK293_Human | 1.75173397 |
| 21 | * ZNF274_21170338_ChIP-Seq_K562_Hela | 1.71722787 |
| 22 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.67885853 |
| 23 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.67136034 |
| 24 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.64182184 |
| 25 | * UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.63675951 |
| 26 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.55088403 |
| 27 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.54144723 |
| 28 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.48656237 |
| 29 | * SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.47818230 |
| 30 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.46933927 |
| 31 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.46722024 |
| 32 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.39564751 |
| 33 | LYL1_20887958_ChIP-Seq_HPC-7_Mouse | 1.39011153 |
| 34 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.38928579 |
| 35 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.38576187 |
| 36 | AR_21909140_ChIP-Seq_LNCAP_Human | 1.35189360 |
| 37 | MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse | 1.31970375 |
| 38 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.31570062 |
| 39 | TBL1_22424771_ChIP-Seq_293T_Human | 1.30866628 |
| 40 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.30673125 |
| 41 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.28557275 |
| 42 | P300_19829295_ChIP-Seq_ESCs_Human | 1.27442848 |
| 43 | * AR_25329375_ChIP-Seq_VCAP_Human | 1.25407328 |
| 44 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.25133718 |
| 45 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.23820245 |
| 46 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.22252931 |
| 47 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.20052426 |
| 48 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.17929182 |
| 49 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.13733869 |
| 50 | ERA_21632823_ChIP-Seq_H3396_Human | 1.13092321 |
| 51 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.13088558 |
| 52 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.12830001 |
| 53 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.12830001 |
| 54 | LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.12552862 |
| 55 | * RUNX2_22187159_ChIP-Seq_PCA_Human | 1.12123802 |
| 56 | NFYB_21822215_ChIP-Seq_K562_Human | 1.11991880 |
| 57 | * SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.11042237 |
| 58 | OCT4_20526341_ChIP-Seq_ESCs_Human | 1.09970460 |
| 59 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 1.08681055 |
| 60 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.08200935 |
| 61 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.08156703 |
| 62 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 1.07957779 |
| 63 | EWS_26573619_Chip-Seq_HEK293_Human | 1.07614317 |
| 64 | VDR_22108803_ChIP-Seq_LS180_Human | 1.06895493 |
| 65 | * OCT1_27270436_Chip-Seq_PROSTATE_Human | 1.06826424 |
| 66 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.06726505 |
| 67 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.06218046 |
| 68 | * RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.05672999 |
| 69 | NFYA_21822215_ChIP-Seq_K562_Human | 1.05383181 |
| 70 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.05282683 |
| 71 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.04354697 |
| 72 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.03814412 |
| 73 | GF1B_26923725_Chip-Seq_HPCs_Mouse | 1.01802057 |
| 74 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.00616960 |
| 75 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.00187394 |
| 76 | STAT3_23295773_ChIP-Seq_U87_Human | 0.98580783 |
| 77 | BCL6_27268052_Chip-Seq_Bcells_Human | 0.98411017 |
| 78 | BP1_19119308_ChIP-ChIP_Hs578T_Human | 0.98090131 |
| 79 | * TOP2B_26459242_ChIP-Seq_MCF-7_Human | 0.97873992 |
| 80 | TAF15_26573619_Chip-Seq_HEK293_Human | 0.97699272 |
| 81 | PHF8_20622853_ChIP-Seq_HELA_Human | 0.97391952 |
| 82 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 0.95944119 |
| 83 | IKZF1_21737484_ChIP-ChIP_HCT116_Human | 0.95628670 |
| 84 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 0.95113928 |
| 85 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 0.94304674 |
| 86 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 0.94128572 |
| 87 | E2F1_17053090_ChIP-ChIP_MCF-7_Human | 0.94059515 |
| 88 | TP53_18474530_ChIP-ChIP_U2OS_Human | 0.93426998 |
| 89 | NCOR_22424771_ChIP-Seq_293T_Human | 0.93182541 |
| 90 | MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human | 0.92827586 |
| 91 | TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.92188170 |
| 92 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 0.91805543 |
| 93 | CTCF_27219007_Chip-Seq_Bcells_Human | 0.91562405 |
| 94 | HTT_18923047_ChIP-ChIP_STHdh_Human | 0.90004577 |
| 95 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 0.88987513 |
| 96 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 0.88394941 |
| 97 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 0.87536884 |
| 98 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 0.87083670 |
| 99 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 0.86628471 |
| 100 | ETV1_20927104_ChIP-Seq_GIST48_Human | 0.86297099 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 6.36462936 |
| 2 | MP0005646_abnormal_pituitary_gland | 4.07523666 |
| 3 | MP0001485_abnormal_pinna_reflex | 3.27711651 |
| 4 | MP0002653_abnormal_ependyma_morphology | 3.20636785 |
| 5 | MP0002102_abnormal_ear_morphology | 3.19806911 |
| 6 | MP0003698_abnormal_male_reproductive | 3.00997901 |
| 7 | MP0006292_abnormal_olfactory_placode | 2.98898278 |
| 8 | MP0001929_abnormal_gametogenesis | 2.85638134 |
| 9 | MP0000049_abnormal_middle_ear | 2.82572022 |
| 10 | MP0008789_abnormal_olfactory_epithelium | 2.61730248 |
| 11 | MP0005499_abnormal_olfactory_system | 2.48100942 |
| 12 | MP0005394_taste/olfaction_phenotype | 2.48100942 |
| 13 | MP0003878_abnormal_ear_physiology | 2.38244405 |
| 14 | MP0005377_hearing/vestibular/ear_phenot | 2.38244405 |
| 15 | MP0009697_abnormal_copulation | 2.36146753 |
| 16 | MP0004742_abnormal_vestibular_system | 2.29736874 |
| 17 | MP0010030_abnormal_orbit_morphology | 2.22958306 |
| 18 | MP0000631_abnormal_neuroendocrine_gland | 2.20950694 |
| 19 | MP0003315_abnormal_perineum_morphology | 2.16354083 |
| 20 | MP0005248_abnormal_Harderian_gland | 2.16238483 |
| 21 | MP0002210_abnormal_sex_determination | 2.13414094 |
| 22 | MP0001486_abnormal_startle_reflex | 2.05168265 |
| 23 | MP0005670_abnormal_white_adipose | 2.05096818 |
| 24 | MP0008877_abnormal_DNA_methylation | 2.01695387 |
| 25 | MP0004885_abnormal_endolymph | 1.94429699 |
| 26 | MP0003787_abnormal_imprinting | 1.70199960 |
| 27 | MP0002234_abnormal_pharynx_morphology | 1.69982287 |
| 28 | MP0008004_abnormal_stomach_pH | 1.69926114 |
| 29 | MP0000653_abnormal_sex_gland | 1.66830340 |
| 30 | MP0001145_abnormal_male_reproductive | 1.63023258 |
| 31 | MP0002161_abnormal_fertility/fecundity | 1.57364706 |
| 32 | MP0000026_abnormal_inner_ear | 1.55905865 |
| 33 | MP0008569_lethality_at_weaning | 1.47189951 |
| 34 | MP0005389_reproductive_system_phenotype | 1.39346818 |
| 35 | MP0009780_abnormal_chondrocyte_physiolo | 1.37577668 |
| 36 | MP0001963_abnormal_hearing_physiology | 1.37369777 |
| 37 | MP0001764_abnormal_homeostasis | 1.35550351 |
| 38 | MP0002160_abnormal_reproductive_system | 1.33531568 |
| 39 | MP0008872_abnormal_physiological_respon | 1.31181071 |
| 40 | MP0001905_abnormal_dopamine_level | 1.28993257 |
| 41 | MP0001293_anophthalmia | 1.28699160 |
| 42 | MP0000778_abnormal_nervous_system | 1.27141172 |
| 43 | MP0005391_vision/eye_phenotype | 1.26541951 |
| 44 | MP0002092_abnormal_eye_morphology | 1.26536684 |
| 45 | MP0005551_abnormal_eye_electrophysiolog | 1.23570163 |
| 46 | MP0006276_abnormal_autonomic_nervous | 1.22284171 |
| 47 | MP0000569_abnormal_digit_pigmentation | 1.19395646 |
| 48 | MP0002132_abnormal_respiratory_system | 1.18751363 |
| 49 | MP0001270_distended_abdomen | 1.18183512 |
| 50 | MP0001919_abnormal_reproductive_system | 1.12979127 |
| 51 | MP0001984_abnormal_olfaction | 1.10115908 |
| 52 | MP0003718_maternal_effect | 1.09096603 |
| 53 | MP0003879_abnormal_hair_cell | 1.07329190 |
| 54 | MP0000566_synostosis | 1.05708719 |
| 55 | MP0009745_abnormal_behavioral_response | 1.05064447 |
| 56 | MP0003111_abnormal_nucleus_morphology | 1.02506788 |
| 57 | MP0002697_abnormal_eye_size | 1.02448729 |
| 58 | MP0002090_abnormal_vision | 0.98716108 |
| 59 | MP0005253_abnormal_eye_physiology | 0.98155910 |
| 60 | MP0002272_abnormal_nervous_system | 0.97166257 |
| 61 | MP0008995_early_reproductive_senescence | 0.96797925 |
| 62 | MP0002557_abnormal_social/conspecific_i | 0.92221890 |
| 63 | MP0002233_abnormal_nose_morphology | 0.91367928 |
| 64 | MP0010094_abnormal_chromosome_stability | 0.90065747 |
| 65 | MP0003755_abnormal_palate_morphology | 0.89431615 |
| 66 | MP0003938_abnormal_ear_development | 0.89012609 |
| 67 | MP0002572_abnormal_emotion/affect_behav | 0.88847305 |
| 68 | MP0002064_seizures | 0.86744532 |
| 69 | MP0002184_abnormal_innervation | 0.84088264 |
| 70 | MP0003121_genomic_imprinting | 0.82751739 |
| 71 | MP0000343_altered_response_to | 0.81603928 |
| 72 | MP0005395_other_phenotype | 0.81296588 |
| 73 | MP0002876_abnormal_thyroid_physiology | 0.80745617 |
| 74 | MP0003077_abnormal_cell_cycle | 0.80162454 |
| 75 | MP0002736_abnormal_nociception_after | 0.78126882 |
| 76 | MP0001348_abnormal_lacrimal_gland | 0.76130532 |
| 77 | MP0002067_abnormal_sensory_capabilities | 0.75568924 |
| 78 | MP0001119_abnormal_female_reproductive | 0.75195010 |
| 79 | MP0002116_abnormal_craniofacial_bone | 0.74527232 |
| 80 | MP0003861_abnormal_nervous_system | 0.74229656 |
| 81 | MP0005195_abnormal_posterior_eye | 0.73137503 |
| 82 | MP0009765_abnormal_xenobiotic_induced | 0.72185738 |
| 83 | MP0001661_extended_life_span | 0.71927586 |
| 84 | MP0003122_maternal_imprinting | 0.71638679 |
| 85 | MP0005174_abnormal_tail_pigmentation | 0.69517646 |
| 86 | MP0001346_abnormal_lacrimal_gland | 0.69460880 |
| 87 | MP0002168_other_aberrant_phenotype | 0.69226557 |
| 88 | MP0002752_abnormal_somatic_nervous | 0.69129559 |
| 89 | MP0002928_abnormal_bile_duct | 0.64466818 |
| 90 | MP0004085_abnormal_heartbeat | 0.62801993 |
| 91 | MP0003183_abnormal_peptide_metabolism | 0.62437654 |
| 92 | MP0001970_abnormal_pain_threshold | 0.61820464 |
| 93 | MP0005647_abnormal_sex_gland | 0.61185831 |
| 94 | MP0002063_abnormal_learning/memory/cond | 0.60483582 |
| 95 | MP0003937_abnormal_limbs/digits/tail_de | 0.58545697 |
| 96 | MP0002152_abnormal_brain_morphology | 0.58404288 |
| 97 | MP0001440_abnormal_grooming_behavior | 0.58118098 |
| 98 | MP0002822_catalepsy | 0.56949904 |
| 99 | MP0002751_abnormal_autonomic_nervous | 0.56633925 |
| 100 | MP0004142_abnormal_muscle_tone | 0.56125223 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Optic nerve hypoplasia (HP:0000609) | 5.17020261 |
| 2 | Hypoplastic pelvis (HP:0008839) | 4.79189492 |
| 3 | Facial hemangioma (HP:0000329) | 4.62543683 |
| 4 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 4.39697630 |
| 5 | Abnormal number of incisors (HP:0011064) | 4.38469617 |
| 6 | Hepatoblastoma (HP:0002884) | 3.97789746 |
| 7 | Aplasia/Hypoplasia of the sacrum (HP:0008517) | 3.84564917 |
| 8 | Chronic hepatic failure (HP:0100626) | 3.83916426 |
| 9 | Severe Myopia (HP:0011003) | 3.74894528 |
| 10 | Partial agenesis of the corpus callosum (HP:0001338) | 3.60315570 |
| 11 | Oligodactyly (hands) (HP:0001180) | 3.48855703 |
| 12 | Ectopic kidney (HP:0000086) | 3.46169796 |
| 13 | Aplasia/Hypoplasia of the pubic bone (HP:0009104) | 3.41925812 |
| 14 | Anophthalmia (HP:0000528) | 3.40441380 |
| 15 | True hermaphroditism (HP:0010459) | 3.26808084 |
| 16 | Absent/shortened dynein arms (HP:0200106) | 3.08727533 |
| 17 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 3.08727533 |
| 18 | Sex reversal (HP:0012245) | 3.06033938 |
| 19 | Abnormal sex determination (HP:0012244) | 3.06033938 |
| 20 | Abnormality of the labia minora (HP:0012880) | 3.05809485 |
| 21 | Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003) | 3.04844725 |
| 22 | Absent epiphyses (HP:0010577) | 3.04844725 |
| 23 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 3.03961367 |
| 24 | Oligodactyly (HP:0012165) | 3.01192104 |
| 25 | Hypoplastic ischia (HP:0003175) | 2.99733932 |
| 26 | Growth hormone deficiency (HP:0000824) | 2.99341390 |
| 27 | Increased density of long bones (HP:0006392) | 2.98336863 |
| 28 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.97939600 |
| 29 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.97939600 |
| 30 | Abnormal ciliary motility (HP:0012262) | 2.93670266 |
| 31 | Hypoplastic female external genitalia (HP:0012815) | 2.75012931 |
| 32 | Selective tooth agenesis (HP:0001592) | 2.73386582 |
| 33 | Volvulus (HP:0002580) | 2.64571595 |
| 34 | Resting tremor (HP:0002322) | 2.63323909 |
| 35 | Severe visual impairment (HP:0001141) | 2.60449878 |
| 36 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.57755933 |
| 37 | Male pseudohermaphroditism (HP:0000037) | 2.48850015 |
| 38 | Abnormality of the ischium (HP:0003174) | 2.47578777 |
| 39 | Aplasia/Hypoplasia of the sternum (HP:0006714) | 2.45027674 |
| 40 | Abnormality of macular pigmentation (HP:0008002) | 2.43475892 |
| 41 | Ulnar claw (HP:0001178) | 2.42327570 |
| 42 | Abnormal spermatogenesis (HP:0008669) | 2.36434667 |
| 43 | Pancreatic fibrosis (HP:0100732) | 2.35877183 |
| 44 | Abnormality of midbrain morphology (HP:0002418) | 2.35540717 |
| 45 | Molar tooth sign on MRI (HP:0002419) | 2.35540717 |
| 46 | Pancreatic cysts (HP:0001737) | 2.33990464 |
| 47 | Abnormality of lateral ventricle (HP:0030047) | 2.33163530 |
| 48 | Ileus (HP:0002595) | 2.31306655 |
| 49 | Sclerocornea (HP:0000647) | 2.29380293 |
| 50 | Abnormality of the renal medulla (HP:0100957) | 2.27533619 |
| 51 | Decreased central vision (HP:0007663) | 2.27516686 |
| 52 | Occipital encephalocele (HP:0002085) | 2.27266899 |
| 53 | Abnormal rod and cone electroretinograms (HP:0008323) | 2.25637042 |
| 54 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.23483721 |
| 55 | Nephronophthisis (HP:0000090) | 2.21496647 |
| 56 | Widely patent fontanelles and sutures (HP:0004492) | 2.20644745 |
| 57 | Congenital malformation of the right heart (HP:0011723) | 2.19132461 |
| 58 | Double outlet right ventricle (HP:0001719) | 2.19132461 |
| 59 | Flat capital femoral epiphysis (HP:0003370) | 2.18977700 |
| 60 | Septo-optic dysplasia (HP:0100842) | 2.18245050 |
| 61 | Abnormality of the incisor (HP:0000676) | 2.16954834 |
| 62 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.15697966 |
| 63 | Hypoplasia of the capital femoral epiphysis (HP:0003090) | 2.12481701 |
| 64 | Abnormal drinking behavior (HP:0030082) | 2.12461126 |
| 65 | Polydipsia (HP:0001959) | 2.12461126 |
| 66 | High anterior hairline (HP:0009890) | 2.12319516 |
| 67 | Attenuation of retinal blood vessels (HP:0007843) | 2.09161418 |
| 68 | Hypoplasia of the uterus (HP:0000013) | 2.09064533 |
| 69 | Polyuria (HP:0000103) | 2.07412996 |
| 70 | Abnormality of abdominal situs (HP:0011620) | 2.05588929 |
| 71 | Abdominal situs inversus (HP:0003363) | 2.05588929 |
| 72 | Congenital sensorineural hearing impairment (HP:0008527) | 2.01303791 |
| 73 | Hip dysplasia (HP:0001385) | 2.01080999 |
| 74 | Optic nerve coloboma (HP:0000588) | 2.01011461 |
| 75 | Hypophosphatemic rickets (HP:0004912) | 1.99128612 |
| 76 | Abnormal urine output (HP:0012590) | 1.99046824 |
| 77 | Dyschromatopsia (HP:0007641) | 1.98926935 |
| 78 | Central scotoma (HP:0000603) | 1.97118374 |
| 79 | Mutism (HP:0002300) | 1.96492016 |
| 80 | Short 1st metacarpal (HP:0010034) | 1.96002025 |
| 81 | Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026) | 1.96002025 |
| 82 | Germ cell neoplasia (HP:0100728) | 1.94747093 |
| 83 | Hydroureter (HP:0000072) | 1.93583175 |
| 84 | Decreased lacrimation (HP:0000633) | 1.92624458 |
| 85 | Focal seizures (HP:0007359) | 1.92541211 |
| 86 | Peripheral hypomyelination (HP:0007182) | 1.90662452 |
| 87 | Aplasia/Hypoplasia involving the pelvis (HP:0009103) | 1.90425887 |
| 88 | Hyperthyroidism (HP:0000836) | 1.89834799 |
| 89 | Infertility (HP:0000789) | 1.86491471 |
| 90 | Hypomagnesemia (HP:0002917) | 1.86206363 |
| 91 | Intestinal atresia (HP:0011100) | 1.85121057 |
| 92 | Anencephaly (HP:0002323) | 1.84683810 |
| 93 | Cystic liver disease (HP:0006706) | 1.84229068 |
| 94 | Holoprosencephaly (HP:0001360) | 1.82594509 |
| 95 | Chorioretinal coloboma (HP:0000567) | 1.82297805 |
| 96 | Absent thumb (HP:0009777) | 1.82220007 |
| 97 | Long clavicles (HP:0000890) | 1.78452507 |
| 98 | Truncal obesity (HP:0001956) | 1.77502945 |
| 99 | Intellectual disability, moderate (HP:0002342) | 1.77479974 |
| 100 | Postaxial hand polydactyly (HP:0001162) | 1.76713048 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | WEE1 | 6.49717882 |
| 2 | PINK1 | 4.17184874 |
| 3 | TNIK | 3.68293645 |
| 4 | BRSK2 | 3.56719522 |
| 5 | MARK3 | 2.95110671 |
| 6 | DYRK2 | 2.49121046 |
| 7 | PKN1 | 2.45513813 |
| 8 | EPHB2 | 2.39868053 |
| 9 | STK39 | 2.39393777 |
| 10 | DDR2 | 2.30724816 |
| 11 | PLK4 | 2.29809174 |
| 12 | FRK | 2.21514682 |
| 13 | TLK1 | 2.05614364 |
| 14 | BRSK1 | 1.88457542 |
| 15 | CDC7 | 1.81674253 |
| 16 | MAP3K10 | 1.81621187 |
| 17 | CCNB1 | 1.75297066 |
| 18 | ZAK | 1.74591246 |
| 19 | PNCK | 1.74069590 |
| 20 | WNK4 | 1.62171746 |
| 21 | ERBB2 | 1.61737502 |
| 22 | CDK7 | 1.57219820 |
| 23 | STK38L | 1.52559667 |
| 24 | MAPK13 | 1.49727018 |
| 25 | DYRK3 | 1.45120873 |
| 26 | MYLK | 1.43897459 |
| 27 | DYRK1B | 1.38607664 |
| 28 | BUB1 | 1.37247410 |
| 29 | NEK2 | 1.31661855 |
| 30 | CAMK1G | 1.24791356 |
| 31 | MAPK15 | 1.22859346 |
| 32 | PLK2 | 1.19405959 |
| 33 | EIF2AK2 | 1.11644592 |
| 34 | KSR1 | 1.11046347 |
| 35 | ALK | 1.09136165 |
| 36 | LATS1 | 1.09030906 |
| 37 | INSRR | 1.08502336 |
| 38 | MAP3K8 | 1.06495340 |
| 39 | PLK3 | 1.04213521 |
| 40 | MARK2 | 1.03751831 |
| 41 | ROCK1 | 1.02995474 |
| 42 | CAMK1 | 0.98492587 |
| 43 | OXSR1 | 0.96877966 |
| 44 | TESK1 | 0.96239490 |
| 45 | NUAK1 | 0.93522278 |
| 46 | MAP2K7 | 0.84907062 |
| 47 | CASK | 0.80879046 |
| 48 | ICK | 0.78562284 |
| 49 | ADRBK2 | 0.77576160 |
| 50 | AURKB | 0.77440242 |
| 51 | FGFR2 | 0.77178656 |
| 52 | CAMK4 | 0.76911066 |
| 53 | RPS6KA5 | 0.76313848 |
| 54 | BCR | 0.75144343 |
| 55 | STK38 | 0.73463801 |
| 56 | PRKCG | 0.70810180 |
| 57 | NLK | 0.69163717 |
| 58 | STK3 | 0.66642762 |
| 59 | CDC42BPA | 0.65898048 |
| 60 | MAP3K7 | 0.65461576 |
| 61 | PAK3 | 0.55242406 |
| 62 | PIK3CG | 0.53672498 |
| 63 | PAK1 | 0.51421178 |
| 64 | TRIM28 | 0.49232641 |
| 65 | GRK1 | 0.48793439 |
| 66 | PLK1 | 0.48132000 |
| 67 | PASK | 0.47924370 |
| 68 | CDK2 | 0.42649329 |
| 69 | CAMK1D | 0.42544725 |
| 70 | BMPR1B | 0.42078156 |
| 71 | PTK2B | 0.41484552 |
| 72 | CHEK2 | 0.40187457 |
| 73 | MAPK10 | 0.40050526 |
| 74 | SGK223 | 0.39054759 |
| 75 | SGK494 | 0.39054759 |
| 76 | SIK2 | 0.38971533 |
| 77 | ERBB3 | 0.38151757 |
| 78 | FGR | 0.35659223 |
| 79 | CHEK1 | 0.34817291 |
| 80 | RPS6KA6 | 0.33975565 |
| 81 | MST1R | 0.33459548 |
| 82 | LIMK1 | 0.31731594 |
| 83 | PRKG1 | 0.29729406 |
| 84 | CDK1 | 0.29645176 |
| 85 | MINK1 | 0.29044975 |
| 86 | BMPR2 | 0.28737789 |
| 87 | ATM | 0.28695152 |
| 88 | PRKCQ | 0.26661708 |
| 89 | TIE1 | 0.23862509 |
| 90 | CDK14 | 0.23711930 |
| 91 | WNK3 | 0.22893613 |
| 92 | MAPK1 | 0.22127440 |
| 93 | CAMK2B | 0.21935998 |
| 94 | PRKCB | 0.21590884 |
| 95 | RPS6KC1 | 0.21510183 |
| 96 | RPS6KL1 | 0.21510183 |
| 97 | TGFBR1 | 0.21478204 |
| 98 | ATR | 0.20513278 |
| 99 | MARK1 | 0.19864625 |
| 100 | EPHA4 | 0.17951436 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 3.84104893 |
| 2 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 3.55116154 |
| 3 | Nicotine addiction_Homo sapiens_hsa05033 | 3.30591745 |
| 4 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.26246133 |
| 5 | Olfactory transduction_Homo sapiens_hsa04740 | 2.87398628 |
| 6 | Gap junction_Homo sapiens_hsa04540 | 2.64240417 |
| 7 | Homologous recombination_Homo sapiens_hsa03440 | 2.61142218 |
| 8 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.57744893 |
| 9 | Pathogenic Escherichia coli infection_Homo sapiens_hsa05130 | 2.57072866 |
| 10 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.33802378 |
| 11 | Basal cell carcinoma_Homo sapiens_hsa05217 | 2.27248904 |
| 12 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 2.17650299 |
| 13 | Phototransduction_Homo sapiens_hsa04744 | 2.13396527 |
| 14 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 2.00893641 |
| 15 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.95070227 |
| 16 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.81053252 |
| 17 | Morphine addiction_Homo sapiens_hsa05032 | 1.71854510 |
| 18 | Basal transcription factors_Homo sapiens_hsa03022 | 1.60915635 |
| 19 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.55244814 |
| 20 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.52061727 |
| 21 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.50181103 |
| 22 | GABAergic synapse_Homo sapiens_hsa04727 | 1.45551238 |
| 23 | Fatty acid degradation_Homo sapiens_hsa00071 | 1.44451382 |
| 24 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 1.39898450 |
| 25 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.38104646 |
| 26 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.32573178 |
| 27 | Alcoholism_Homo sapiens_hsa05034 | 1.30194494 |
| 28 | Taste transduction_Homo sapiens_hsa04742 | 1.26589947 |
| 29 | Cell cycle_Homo sapiens_hsa04110 | 1.25208023 |
| 30 | Tyrosine metabolism_Homo sapiens_hsa00350 | 1.21367481 |
| 31 | Glutathione metabolism_Homo sapiens_hsa00480 | 1.20313135 |
| 32 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.14967520 |
| 33 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 1.14682872 |
| 34 | Circadian entrainment_Homo sapiens_hsa04713 | 1.12787506 |
| 35 | Hippo signaling pathway_Homo sapiens_hsa04390 | 1.06758163 |
| 36 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 1.04466613 |
| 37 | Huntingtons disease_Homo sapiens_hsa05016 | 1.04199686 |
| 38 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.02266749 |
| 39 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.98724251 |
| 40 | Purine metabolism_Homo sapiens_hsa00230 | 0.97510007 |
| 41 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.96641664 |
| 42 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.93973316 |
| 43 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.93003907 |
| 44 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.92775414 |
| 45 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.89279485 |
| 46 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.84770738 |
| 47 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 0.81450041 |
| 48 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.80786182 |
| 49 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.75980807 |
| 50 | Viral carcinogenesis_Homo sapiens_hsa05203 | 0.74461999 |
| 51 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.72047728 |
| 52 | Cholinergic synapse_Homo sapiens_hsa04725 | 0.69889191 |
| 53 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.69782994 |
| 54 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.69537206 |
| 55 | RNA transport_Homo sapiens_hsa03013 | 0.64687521 |
| 56 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 0.63913265 |
| 57 | Prostate cancer_Homo sapiens_hsa05215 | 0.63328178 |
| 58 | Drug metabolism - other enzymes_Homo sapiens_hsa00983 | 0.62930913 |
| 59 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.60166206 |
| 60 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.59091483 |
| 61 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.58125630 |
| 62 | Endometrial cancer_Homo sapiens_hsa05213 | 0.55991811 |
| 63 | Retinol metabolism_Homo sapiens_hsa00830 | 0.55270141 |
| 64 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.54805125 |
| 65 | Tight junction_Homo sapiens_hsa04530 | 0.53083405 |
| 66 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.47534397 |
| 67 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 0.47173798 |
| 68 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.45960980 |
| 69 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.45875418 |
| 70 | Non-homologous end-joining_Homo sapiens_hsa03450 | 0.45660796 |
| 71 | Renin secretion_Homo sapiens_hsa04924 | 0.44067122 |
| 72 | Endocytosis_Homo sapiens_hsa04144 | 0.43829068 |
| 73 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.42999623 |
| 74 | Platelet activation_Homo sapiens_hsa04611 | 0.42194148 |
| 75 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 0.41377675 |
| 76 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.40653631 |
| 77 | Synaptic vesicle cycle_Homo sapiens_hsa04721 | 0.40642709 |
| 78 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.39571572 |
| 79 | Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010 | 0.37916824 |
| 80 | Parkinsons disease_Homo sapiens_hsa05012 | 0.37769298 |
| 81 | Lysine degradation_Homo sapiens_hsa00310 | 0.37155877 |
| 82 | Mismatch repair_Homo sapiens_hsa03430 | 0.37137655 |
| 83 | Cell adhesion molecules (CAMs)_Homo sapiens_hsa04514 | 0.35000232 |
| 84 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 0.34688897 |
| 85 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.34282780 |
| 86 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.32598192 |
| 87 | Peroxisome_Homo sapiens_hsa04146 | 0.32597671 |
| 88 | Phagosome_Homo sapiens_hsa04145 | 0.32383327 |
| 89 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.31773270 |
| 90 | Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410 | 0.31097614 |
| 91 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.29850027 |
| 92 | RNA degradation_Homo sapiens_hsa03018 | 0.29605129 |
| 93 | Adipocytokine signaling pathway_Homo sapiens_hsa04920 | 0.29012434 |
| 94 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.27680077 |
| 95 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 0.27150590 |
| 96 | Metabolic pathways_Homo sapiens_hsa01100 | 0.27033729 |
| 97 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.26604454 |
| 98 | Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250 | 0.26280085 |
| 99 | Apoptosis_Homo sapiens_hsa04210 | 0.23274673 |
| 100 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.22521364 |

