

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | regulation of penile erection (GO:0060405) | 9.14274545 |
| 2 | behavioral response to ethanol (GO:0048149) | 5.71527702 |
| 3 | neuron fate determination (GO:0048664) | 4.47478932 |
| 4 | DNA double-strand break processing (GO:0000729) | 4.33085560 |
| 5 | positive regulation of dendritic spine morphogenesis (GO:0061003) | 4.20091121 |
| 6 | short-term memory (GO:0007614) | 3.81347289 |
| 7 | cornea development in camera-type eye (GO:0061303) | 3.70271348 |
| 8 | limb bud formation (GO:0060174) | 3.63402814 |
| 9 | regulation of pigment cell differentiation (GO:0050932) | 3.61409913 |
| 10 | response to pheromone (GO:0019236) | 3.61235738 |
| 11 | neural tube formation (GO:0001841) | 3.58611019 |
| 12 | inositol phosphate catabolic process (GO:0071545) | 3.55291029 |
| 13 | mitotic sister chromatid cohesion (GO:0007064) | 3.52735014 |
| 14 | pyrimidine nucleobase catabolic process (GO:0006208) | 3.40340291 |
| 15 | presynaptic membrane assembly (GO:0097105) | 3.33372350 |
| 16 | regulation of sarcomere organization (GO:0060297) | 3.28322329 |
| 17 | kinetochore assembly (GO:0051382) | 3.27282607 |
| 18 | axonal fasciculation (GO:0007413) | 3.26336991 |
| 19 | DNA damage response, detection of DNA damage (GO:0042769) | 3.23299428 |
| 20 | resolution of meiotic recombination intermediates (GO:0000712) | 3.22642958 |
| 21 | microtubule depolymerization (GO:0007019) | 3.21359341 |
| 22 | regulation of DNA endoreduplication (GO:0032875) | 3.14919604 |
| 23 | positive regulation of developmental pigmentation (GO:0048087) | 3.14767352 |
| 24 | glial cell proliferation (GO:0014009) | 3.14630578 |
| 25 | anterograde synaptic vesicle transport (GO:0048490) | 3.13068585 |
| 26 | negative regulation of potassium ion transport (GO:0043267) | 3.08534833 |
| 27 | kinetochore organization (GO:0051383) | 3.07787963 |
| 28 | regulation of feeding behavior (GO:0060259) | 3.05983862 |
| 29 | L-fucose catabolic process (GO:0042355) | 3.05404211 |
| 30 | fucose catabolic process (GO:0019317) | 3.05404211 |
| 31 | L-fucose metabolic process (GO:0042354) | 3.05404211 |
| 32 | sympathetic nervous system development (GO:0048485) | 3.04806345 |
| 33 | DNA replication-dependent nucleosome organization (GO:0034723) | 3.00194172 |
| 34 | DNA replication-dependent nucleosome assembly (GO:0006335) | 3.00194172 |
| 35 | protein polyglutamylation (GO:0018095) | 2.96919212 |
| 36 | negative regulation of DNA-dependent DNA replication (GO:2000104) | 2.91007698 |
| 37 | nucleobase catabolic process (GO:0046113) | 2.89793212 |
| 38 | dentate gyrus development (GO:0021542) | 2.89256502 |
| 39 | regulation of inhibitory postsynaptic membrane potential (GO:0060080) | 2.88600445 |
| 40 | negative regulation of mast cell activation (GO:0033004) | 2.86753472 |
| 41 | negative regulation of axon guidance (GO:1902668) | 2.86640052 |
| 42 | intraciliary transport (GO:0042073) | 2.85601875 |
| 43 | presynaptic membrane organization (GO:0097090) | 2.84566442 |
| 44 | establishment of nucleus localization (GO:0040023) | 2.81822224 |
| 45 | ketone body metabolic process (GO:1902224) | 2.80574211 |
| 46 | replication fork processing (GO:0031297) | 2.80263956 |
| 47 | righting reflex (GO:0060013) | 2.80183190 |
| 48 | centriole replication (GO:0007099) | 2.78650687 |
| 49 | kidney morphogenesis (GO:0060993) | 2.77138895 |
| 50 | olfactory bulb development (GO:0021772) | 2.76630593 |
| 51 | histone exchange (GO:0043486) | 2.74350927 |
| 52 | ganglion development (GO:0061548) | 2.74283394 |
| 53 | regulation of dendritic spine morphogenesis (GO:0061001) | 2.72618389 |
| 54 | regulation of telomere maintenance (GO:0032204) | 2.70922773 |
| 55 | phosphorylated carbohydrate dephosphorylation (GO:0046838) | 2.67487916 |
| 56 | inositol phosphate dephosphorylation (GO:0046855) | 2.67487916 |
| 57 | regulation of male gonad development (GO:2000018) | 2.67324523 |
| 58 | negative regulation of axon extension involved in axon guidance (GO:0048843) | 2.66130593 |
| 59 | positive regulation of excitatory postsynaptic membrane potential (GO:2000463) | 2.64691053 |
| 60 | spinal cord motor neuron differentiation (GO:0021522) | 2.64690005 |
| 61 | retinal rod cell development (GO:0046548) | 2.64666020 |
| 62 | protein K6-linked ubiquitination (GO:0085020) | 2.64223224 |
| 63 | regulation of action potential (GO:0098900) | 2.60005140 |
| 64 | synapsis (GO:0007129) | 2.59760364 |
| 65 | negative regulation of JUN kinase activity (GO:0043508) | 2.57196725 |
| 66 | regulation of dendritic spine development (GO:0060998) | 2.55726297 |
| 67 | dendritic spine morphogenesis (GO:0060997) | 2.54610911 |
| 68 | positive regulation of adenylate cyclase activity (GO:0045762) | 2.54349330 |
| 69 | developmental pigmentation (GO:0048066) | 2.54224819 |
| 70 | spermatid nucleus differentiation (GO:0007289) | 2.53117359 |
| 71 | pancreas development (GO:0031016) | 2.47807299 |
| 72 | regulation of nuclear cell cycle DNA replication (GO:0033262) | 2.47025393 |
| 73 | polyol catabolic process (GO:0046174) | 2.46825506 |
| 74 | lactate metabolic process (GO:0006089) | 2.46414535 |
| 75 | regulation of centriole replication (GO:0046599) | 2.46361534 |
| 76 | microtubule polymerization or depolymerization (GO:0031109) | 2.46336223 |
| 77 | adaptation of signaling pathway (GO:0023058) | 2.45439154 |
| 78 | positive regulation of mitochondrial fission (GO:0090141) | 2.44721883 |
| 79 | chromatin remodeling at centromere (GO:0031055) | 2.43740183 |
| 80 | lysine catabolic process (GO:0006554) | 2.43708128 |
| 81 | lysine metabolic process (GO:0006553) | 2.43708128 |
| 82 | recombinational repair (GO:0000725) | 2.43702800 |
| 83 | regulation of cilium movement (GO:0003352) | 2.42862995 |
| 84 | neuron cell-cell adhesion (GO:0007158) | 2.42684694 |
| 85 | parental behavior (GO:0060746) | 2.42663965 |
| 86 | dorsal/ventral axis specification (GO:0009950) | 2.42343258 |
| 87 | somite development (GO:0061053) | 2.42274975 |
| 88 | protein prenylation (GO:0018342) | 2.42239314 |
| 89 | prenylation (GO:0097354) | 2.42239314 |
| 90 | cullin deneddylation (GO:0010388) | 2.40747538 |
| 91 | anterograde axon cargo transport (GO:0008089) | 2.40742727 |
| 92 | double-strand break repair via homologous recombination (GO:0000724) | 2.39714681 |
| 93 | keratinocyte development (GO:0003334) | 2.39312871 |
| 94 | neuron recognition (GO:0008038) | 2.38932686 |
| 95 | positive regulation of vasodilation (GO:0045909) | 2.38618258 |
| 96 | cardiac ventricle formation (GO:0003211) | 2.38365208 |
| 97 | exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay | 2.36722511 |
| 98 | Sertoli cell development (GO:0060009) | 2.36570070 |
| 99 | CENP-A containing nucleosome assembly (GO:0034080) | 2.35777751 |
| 100 | acrosome assembly (GO:0001675) | 2.34035828 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 4.56711794 |
| 2 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 3.05214916 |
| 3 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 2.97305096 |
| 4 | IGF1R_20145208_ChIP-Seq_DFB_Human | 2.96781940 |
| 5 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.93430732 |
| 6 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.70201703 |
| 7 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 2.68290960 |
| 8 | VDR_22108803_ChIP-Seq_LS180_Human | 2.65315454 |
| 9 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 2.47242644 |
| 10 | FUS_26573619_Chip-Seq_HEK293_Human | 2.42561378 |
| 11 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.40007981 |
| 12 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 2.38916956 |
| 13 | EWS_26573619_Chip-Seq_HEK293_Human | 2.31189787 |
| 14 | TAF15_26573619_Chip-Seq_HEK293_Human | 2.25562616 |
| 15 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.16119781 |
| 16 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 2.11008385 |
| 17 | P300_19829295_ChIP-Seq_ESCs_Human | 2.10319897 |
| 18 | KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human | 2.08577585 |
| 19 | HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse | 2.05911472 |
| 20 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 2.00647558 |
| 21 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.97360090 |
| 22 | E2F4_17652178_ChIP-ChIP_JURKAT_Human | 1.91475892 |
| 23 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 1.87764406 |
| 24 | FOXM1_23109430_ChIP-Seq_U2OS_Human | 1.75394186 |
| 25 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.74893255 |
| 26 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.72704418 |
| 27 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.68609434 |
| 28 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.67655459 |
| 29 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.66688023 |
| 30 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.65835423 |
| 31 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.65835423 |
| 32 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.65044350 |
| 33 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.63525911 |
| 34 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.63010836 |
| 35 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.60998521 |
| 36 | SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.58636918 |
| 37 | POU5F1_16153702_ChIP-ChIP_HESCs_Human | 1.58462469 |
| 38 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.57917631 |
| 39 | ELK1_19687146_ChIP-ChIP_HELA_Human | 1.56142194 |
| 40 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.56043521 |
| 41 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.51589321 |
| 42 | EST1_17652178_ChIP-ChIP_JURKAT_Human | 1.51133873 |
| 43 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.49353690 |
| 44 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.49064962 |
| 45 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.49019677 |
| 46 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.47507785 |
| 47 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.46317119 |
| 48 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 1.45686769 |
| 49 | EZH2_27294783_Chip-Seq_NPCs_Mouse | 1.44128268 |
| 50 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.43582250 |
| 51 | OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse | 1.43317113 |
| 52 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.40767230 |
| 53 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.40767230 |
| 54 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.39868973 |
| 55 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.39447189 |
| 56 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.36611518 |
| 57 | AR_25329375_ChIP-Seq_VCAP_Human | 1.35468237 |
| 58 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.35195283 |
| 59 | EZH2_22144423_ChIP-Seq_EOC_Human | 1.35008019 |
| 60 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.29613019 |
| 61 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.27174379 |
| 62 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.26752490 |
| 63 | RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse | 1.24999725 |
| 64 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.22216245 |
| 65 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.20514888 |
| 66 | CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons | 1.20014587 |
| 67 | FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human | 1.19221495 |
| 68 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.14781102 |
| 69 | TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse | 1.13917748 |
| 70 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.13909890 |
| 71 | CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse | 1.13821148 |
| 72 | CHD1_19587682_ChIP-ChIP_MESCs_Mouse | 1.13332900 |
| 73 | TCF4_23295773_ChIP-Seq_U87_Human | 1.11546900 |
| 74 | STAT3_23295773_ChIP-Seq_U87_Human | 1.10495797 |
| 75 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.10206513 |
| 76 | PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse | 1.09628655 |
| 77 | SOX9_26525672_Chip-Seq_HEART_Mouse | 1.08532969 |
| 78 | RBPJ_22232070_ChIP-Seq_NCS_Mouse | 1.08083362 |
| 79 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.06925217 |
| 80 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.05733432 |
| 81 | FLI1_21867929_ChIP-Seq_TH2_Mouse | 1.04671833 |
| 82 | SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse | 1.04106942 |
| 83 | P53_22387025_ChIP-Seq_ESCs_Mouse | 1.03608538 |
| 84 | EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse | 1.03102704 |
| 85 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.02921254 |
| 86 | TAL1_26923725_Chip-Seq_HPCs_Mouse | 1.02186778 |
| 87 | VDR_23849224_ChIP-Seq_CD4+_Human | 1.02128027 |
| 88 | TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.01784975 |
| 89 | NOTCH1_17114293_ChIP-ChIP_T-ALL_Human | 0.99851837 |
| 90 | KDM5B_21448134_ChIP-Seq_MESCs_Mouse | 0.96624253 |
| 91 | TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse | 0.94009793 |
| 92 | SOX2_16153702_ChIP-ChIP_HESCs_Human | 0.93783473 |
| 93 | KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse | 0.93493255 |
| 94 | PADI4_21655091_ChIP-ChIP_MCF-7_Human | 0.93373671 |
| 95 | CRX_20693478_ChIP-Seq_RETINA_Mouse | 0.93247067 |
| 96 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 0.93160355 |
| 97 | SOX2_19829295_ChIP-Seq_ESCs_Human | 0.92498432 |
| 98 | NANOG_19829295_ChIP-Seq_ESCs_Human | 0.92498432 |
| 99 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.91960002 |
| 100 | SOX2_21211035_ChIP-Seq_LN229_Gbm | 0.91788917 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0002822_catalepsy | 3.92909852 |
| 2 | MP0002102_abnormal_ear_morphology | 3.76231098 |
| 3 | MP0003787_abnormal_imprinting | 3.44109421 |
| 4 | MP0003121_genomic_imprinting | 2.47943883 |
| 5 | MP0005075_abnormal_melanosome_morpholog | 2.45404034 |
| 6 | MP0008877_abnormal_DNA_methylation | 2.37035513 |
| 7 | MP0003880_abnormal_central_pattern | 2.27055355 |
| 8 | MP0000569_abnormal_digit_pigmentation | 2.17473451 |
| 9 | MP0001529_abnormal_vocalization | 2.16883068 |
| 10 | MP0003122_maternal_imprinting | 2.00446879 |
| 11 | MP0008058_abnormal_DNA_repair | 2.00383098 |
| 12 | MP0005647_abnormal_sex_gland | 1.95865784 |
| 13 | MP0002938_white_spotting | 1.91628528 |
| 14 | MP0004885_abnormal_endolymph | 1.88872233 |
| 15 | MP0002735_abnormal_chemical_nociception | 1.86683241 |
| 16 | MP0003890_abnormal_embryonic-extraembry | 1.84953158 |
| 17 | MP0009745_abnormal_behavioral_response | 1.83698445 |
| 18 | MP0002751_abnormal_autonomic_nervous | 1.81238524 |
| 19 | MP0004270_analgesia | 1.77621336 |
| 20 | MP0009046_muscle_twitch | 1.72576153 |
| 21 | MP0005174_abnormal_tail_pigmentation | 1.70073797 |
| 22 | MP0010094_abnormal_chromosome_stability | 1.67958085 |
| 23 | MP0001968_abnormal_touch/_nociception | 1.67865085 |
| 24 | MP0000015_abnormal_ear_pigmentation | 1.63552175 |
| 25 | MP0002272_abnormal_nervous_system | 1.54889497 |
| 26 | MP0000778_abnormal_nervous_system | 1.54137136 |
| 27 | MP0006276_abnormal_autonomic_nervous | 1.52078177 |
| 28 | MP0008789_abnormal_olfactory_epithelium | 1.51793888 |
| 29 | MP0005386_behavior/neurological_phenoty | 1.51040579 |
| 30 | MP0004924_abnormal_behavior | 1.51040579 |
| 31 | MP0001485_abnormal_pinna_reflex | 1.50443013 |
| 32 | MP0000516_abnormal_urinary_system | 1.49753953 |
| 33 | MP0005367_renal/urinary_system_phenotyp | 1.49753953 |
| 34 | MP0005394_taste/olfaction_phenotype | 1.46343209 |
| 35 | MP0005499_abnormal_olfactory_system | 1.46343209 |
| 36 | MP0001293_anophthalmia | 1.41136151 |
| 37 | MP0005171_absent_coat_pigmentation | 1.40496852 |
| 38 | MP0002095_abnormal_skin_pigmentation | 1.37432576 |
| 39 | MP0002557_abnormal_social/conspecific_i | 1.36836621 |
| 40 | MP0003011_delayed_dark_adaptation | 1.35589499 |
| 41 | MP0002736_abnormal_nociception_after | 1.30933541 |
| 42 | MP0002572_abnormal_emotion/affect_behav | 1.28279165 |
| 43 | MP0001984_abnormal_olfaction | 1.26420587 |
| 44 | MP0000427_abnormal_hair_cycle | 1.26156074 |
| 45 | MP0005187_abnormal_penis_morphology | 1.24039593 |
| 46 | MP0005253_abnormal_eye_physiology | 1.23344880 |
| 47 | MP0003693_abnormal_embryo_hatching | 1.21747695 |
| 48 | MP0003195_calcinosis | 1.21395046 |
| 49 | MP0002638_abnormal_pupillary_reflex | 1.20334932 |
| 50 | MP0002064_seizures | 1.20170914 |
| 51 | MP0002184_abnormal_innervation | 1.19677968 |
| 52 | MP0000631_abnormal_neuroendocrine_gland | 1.18269907 |
| 53 | MP0000647_abnormal_sebaceous_gland | 1.18180014 |
| 54 | MP0000955_abnormal_spinal_cord | 1.16408202 |
| 55 | MP0003635_abnormal_synaptic_transmissio | 1.15799089 |
| 56 | MP0005248_abnormal_Harderian_gland | 1.13889336 |
| 57 | MP0004742_abnormal_vestibular_system | 1.13576246 |
| 58 | MP0003718_maternal_effect | 1.12719612 |
| 59 | MP0005408_hypopigmentation | 1.12637958 |
| 60 | MP0002160_abnormal_reproductive_system | 1.12419511 |
| 61 | MP0001986_abnormal_taste_sensitivity | 1.10694621 |
| 62 | MP0005645_abnormal_hypothalamus_physiol | 1.08470379 |
| 63 | MP0010307_abnormal_tumor_latency | 1.08147498 |
| 64 | MP0008007_abnormal_cellular_replicative | 1.06945195 |
| 65 | MP0003137_abnormal_impulse_conducting | 1.06912644 |
| 66 | MP0002063_abnormal_learning/memory/cond | 1.06347183 |
| 67 | MP0002067_abnormal_sensory_capabilities | 1.06323800 |
| 68 | MP0004215_abnormal_myocardial_fiber | 1.06014800 |
| 69 | MP0003943_abnormal_hepatobiliary_system | 1.03779267 |
| 70 | MP0006072_abnormal_retinal_apoptosis | 1.03344836 |
| 71 | MP0010030_abnormal_orbit_morphology | 1.02471529 |
| 72 | MP0005551_abnormal_eye_electrophysiolog | 1.01165664 |
| 73 | MP0002233_abnormal_nose_morphology | 1.00937422 |
| 74 | MP0003646_muscle_fatigue | 1.00222044 |
| 75 | MP0002734_abnormal_mechanical_nocicepti | 0.99457577 |
| 76 | MP0001486_abnormal_startle_reflex | 0.97518061 |
| 77 | MP0008057_abnormal_DNA_replication | 0.93944518 |
| 78 | MP0003755_abnormal_palate_morphology | 0.92750054 |
| 79 | MP0006292_abnormal_olfactory_placode | 0.91019343 |
| 80 | MP0003878_abnormal_ear_physiology | 0.90955764 |
| 81 | MP0005377_hearing/vestibular/ear_phenot | 0.90955764 |
| 82 | MP0000049_abnormal_middle_ear | 0.88074058 |
| 83 | MP0004043_abnormal_pH_regulation | 0.87720416 |
| 84 | MP0001286_abnormal_eye_development | 0.87604132 |
| 85 | MP0001501_abnormal_sleep_pattern | 0.87424397 |
| 86 | MP0003123_paternal_imprinting | 0.87416288 |
| 87 | MP0005389_reproductive_system_phenotype | 0.87342020 |
| 88 | MP0004133_heterotaxia | 0.86495898 |
| 89 | MP0002837_dystrophic_cardiac_calcinosis | 0.86391095 |
| 90 | MP0000372_irregular_coat_pigmentation | 0.85166318 |
| 91 | MP0002752_abnormal_somatic_nervous | 0.84196517 |
| 92 | MP0002152_abnormal_brain_morphology | 0.83211597 |
| 93 | MP0002210_abnormal_sex_determination | 0.82839156 |
| 94 | MP0003937_abnormal_limbs/digits/tail_de | 0.82527815 |
| 95 | MP0003861_abnormal_nervous_system | 0.79932167 |
| 96 | MP0001929_abnormal_gametogenesis | 0.78409197 |
| 97 | MP0001188_hyperpigmentation | 0.77030868 |
| 98 | MP0001324_abnormal_eye_pigmentation | 0.76393625 |
| 99 | MP0005391_vision/eye_phenotype | 0.76075402 |
| 100 | MP0000653_abnormal_sex_gland | 0.75727082 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Hyperventilation (HP:0002883) | 5.45690732 |
| 2 | Cortical dysplasia (HP:0002539) | 4.71785052 |
| 3 | Aplasia/Hypoplasia of the uvula (HP:0010293) | 3.64301749 |
| 4 | Abnormal biliary tract physiology (HP:0012439) | 3.23275720 |
| 5 | Bile duct proliferation (HP:0001408) | 3.23275720 |
| 6 | Meckel diverticulum (HP:0002245) | 3.19608937 |
| 7 | Absent speech (HP:0001344) | 3.16175701 |
| 8 | Abnormality of midbrain morphology (HP:0002418) | 3.14287968 |
| 9 | Molar tooth sign on MRI (HP:0002419) | 3.14287968 |
| 10 | Neoplasm of the adrenal cortex (HP:0100641) | 3.00581446 |
| 11 | True hermaphroditism (HP:0010459) | 2.99906863 |
| 12 | Abnormality of the ileum (HP:0001549) | 2.98383420 |
| 13 | Bifid tongue (HP:0010297) | 2.93916082 |
| 14 | Abnormality of the labia minora (HP:0012880) | 2.76498750 |
| 15 | Retinal dysplasia (HP:0007973) | 2.73943993 |
| 16 | Pancreatic fibrosis (HP:0100732) | 2.68656296 |
| 17 | Volvulus (HP:0002580) | 2.68648577 |
| 18 | Abnormality of the preputium (HP:0100587) | 2.66114353 |
| 19 | Pancreatic cysts (HP:0001737) | 2.65817419 |
| 20 | Abnormality of chromosome stability (HP:0003220) | 2.59835838 |
| 21 | Aqueductal stenosis (HP:0002410) | 2.58879076 |
| 22 | Febrile seizures (HP:0002373) | 2.57789139 |
| 23 | Small intestinal stenosis (HP:0012848) | 2.57526915 |
| 24 | Duodenal stenosis (HP:0100867) | 2.57526915 |
| 25 | Abnormal lung lobation (HP:0002101) | 2.57256137 |
| 26 | Nephronophthisis (HP:0000090) | 2.55547431 |
| 27 | Disproportionate short-trunk short stature (HP:0003521) | 2.55334097 |
| 28 | Papilledema (HP:0001085) | 2.54817842 |
| 29 | Clubbing of toes (HP:0100760) | 2.52594092 |
| 30 | Epileptic encephalopathy (HP:0200134) | 2.48592532 |
| 31 | Chromosomal breakage induced by crosslinking agents (HP:0003221) | 2.47652175 |
| 32 | Gonadotropin excess (HP:0000837) | 2.46465085 |
| 33 | Medial flaring of the eyebrow (HP:0010747) | 2.46180681 |
| 34 | Intestinal atresia (HP:0011100) | 2.44751054 |
| 35 | Cupped ear (HP:0000378) | 2.38335578 |
| 36 | Widely spaced teeth (HP:0000687) | 2.35741342 |
| 37 | Large for gestational age (HP:0001520) | 2.32029195 |
| 38 | Abnormality of the duodenum (HP:0002246) | 2.29275296 |
| 39 | Ectopic kidney (HP:0000086) | 2.22082830 |
| 40 | Long foot (HP:0001833) | 2.20719392 |
| 41 | Small hand (HP:0200055) | 2.19954141 |
| 42 | Drooling (HP:0002307) | 2.18647633 |
| 43 | Renal cortical cysts (HP:0000803) | 2.18331379 |
| 44 | Astigmatism (HP:0000483) | 2.17488967 |
| 45 | Abnormality of the carotid arteries (HP:0005344) | 2.14856186 |
| 46 | Chromsome breakage (HP:0040012) | 2.13795712 |
| 47 | Gait imbalance (HP:0002141) | 2.13736599 |
| 48 | Hypsarrhythmia (HP:0002521) | 2.07524342 |
| 49 | Atonic seizures (HP:0010819) | 2.07314197 |
| 50 | Chronic hepatic failure (HP:0100626) | 2.06438020 |
| 51 | Epidermoid cyst (HP:0200040) | 2.06157945 |
| 52 | Narrow forehead (HP:0000341) | 2.05299178 |
| 53 | Abolished electroretinogram (ERG) (HP:0000550) | 2.05014548 |
| 54 | Neoplasm of the adrenal gland (HP:0100631) | 2.03816932 |
| 55 | Genital tract atresia (HP:0001827) | 2.03398427 |
| 56 | Sclerocornea (HP:0000647) | 2.02893480 |
| 57 | Sloping forehead (HP:0000340) | 2.02831753 |
| 58 | Dandy-Walker malformation (HP:0001305) | 2.02827534 |
| 59 | EEG with generalized epileptiform discharges (HP:0011198) | 2.02254233 |
| 60 | Nephrogenic diabetes insipidus (HP:0009806) | 2.02015405 |
| 61 | Congenital primary aphakia (HP:0007707) | 1.98443597 |
| 62 | Colon cancer (HP:0003003) | 1.98231410 |
| 63 | Abnormality of the renal cortex (HP:0011035) | 1.97984529 |
| 64 | Abnormality of the renal medulla (HP:0100957) | 1.97576494 |
| 65 | Excessive salivation (HP:0003781) | 1.95600926 |
| 66 | Vaginal atresia (HP:0000148) | 1.95158439 |
| 67 | Progressive inability to walk (HP:0002505) | 1.94497572 |
| 68 | Hyperinsulinemic hypoglycemia (HP:0000825) | 1.92666575 |
| 69 | Downturned corners of mouth (HP:0002714) | 1.92579670 |
| 70 | Epileptiform EEG discharges (HP:0011182) | 1.92540634 |
| 71 | Oculomotor apraxia (HP:0000657) | 1.91670112 |
| 72 | Polyphagia (HP:0002591) | 1.89544772 |
| 73 | Type II lissencephaly (HP:0007260) | 1.89455991 |
| 74 | Aganglionic megacolon (HP:0002251) | 1.88868459 |
| 75 | Absent thumb (HP:0009777) | 1.86253263 |
| 76 | Enlarged penis (HP:0000040) | 1.82481699 |
| 77 | Decreased muscle mass (HP:0003199) | 1.82225715 |
| 78 | Amblyopia (HP:0000646) | 1.81790047 |
| 79 | Congenital stationary night blindness (HP:0007642) | 1.81407558 |
| 80 | Hypoglycemic coma (HP:0001325) | 1.81269613 |
| 81 | Fair hair (HP:0002286) | 1.81026897 |
| 82 | Postaxial hand polydactyly (HP:0001162) | 1.80491117 |
| 83 | Submucous cleft hard palate (HP:0000176) | 1.80405988 |
| 84 | Breast carcinoma (HP:0003002) | 1.79977647 |
| 85 | Lissencephaly (HP:0001339) | 1.79784623 |
| 86 | Esotropia (HP:0000565) | 1.79586746 |
| 87 | Hepatoblastoma (HP:0002884) | 1.75829677 |
| 88 | Dialeptic seizures (HP:0011146) | 1.75640983 |
| 89 | Limb dystonia (HP:0002451) | 1.73917501 |
| 90 | Aplasia/Hypoplasia of the tongue (HP:0010295) | 1.73364962 |
| 91 | Nephroblastoma (Wilms tumor) (HP:0002667) | 1.71505293 |
| 92 | Papillary thyroid carcinoma (HP:0002895) | 1.70798611 |
| 93 | Short philtrum (HP:0000322) | 1.70737854 |
| 94 | Rib fusion (HP:0000902) | 1.68907999 |
| 95 | Arteriovenous malformation (HP:0100026) | 1.68812128 |
| 96 | Adrenal hypoplasia (HP:0000835) | 1.67634529 |
| 97 | Thyroiditis (HP:0100646) | 1.66411077 |
| 98 | Median cleft lip (HP:0000161) | 1.65480398 |
| 99 | Gaze-evoked nystagmus (HP:0000640) | 1.64477277 |
| 100 | Inability to walk (HP:0002540) | 1.64378652 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FRK | 5.16868891 |
| 2 | ACVR1B | 4.34907689 |
| 3 | BMPR1B | 4.30300696 |
| 4 | WEE1 | 3.17027692 |
| 5 | WNK3 | 3.04582831 |
| 6 | MAP4K2 | 2.65373402 |
| 7 | CASK | 2.54323338 |
| 8 | TRIM28 | 2.49169180 |
| 9 | CCNB1 | 2.27947195 |
| 10 | FGFR2 | 2.16908783 |
| 11 | TNIK | 2.16128555 |
| 12 | MAP3K4 | 2.09089554 |
| 13 | MARK1 | 2.02892794 |
| 14 | BRSK2 | 1.91308918 |
| 15 | TGFBR1 | 1.87247941 |
| 16 | MKNK2 | 1.72982482 |
| 17 | PLK3 | 1.71684587 |
| 18 | BUB1 | 1.51709155 |
| 19 | MAP2K7 | 1.49834352 |
| 20 | ERBB3 | 1.48751921 |
| 21 | PLK4 | 1.43462613 |
| 22 | PLK2 | 1.43270896 |
| 23 | OXSR1 | 1.21497494 |
| 24 | CSNK1G1 | 1.19693232 |
| 25 | EIF2AK3 | 1.18156936 |
| 26 | BCR | 1.16015207 |
| 27 | TSSK6 | 1.14797395 |
| 28 | MAPK13 | 1.14609709 |
| 29 | EPHA4 | 1.12483645 |
| 30 | ZAK | 1.09891941 |
| 31 | MINK1 | 1.09000363 |
| 32 | DYRK2 | 1.07846233 |
| 33 | PLK1 | 1.03525255 |
| 34 | NEK1 | 1.01408173 |
| 35 | PNCK | 1.01073716 |
| 36 | GRK1 | 1.00848514 |
| 37 | ERBB4 | 0.89087360 |
| 38 | CSNK1G2 | 0.88636065 |
| 39 | PKN2 | 0.87384593 |
| 40 | MKNK1 | 0.87102600 |
| 41 | TTK | 0.86926394 |
| 42 | CSNK1G3 | 0.86780877 |
| 43 | BRSK1 | 0.85309899 |
| 44 | STK16 | 0.85309349 |
| 45 | PRKCE | 0.83312154 |
| 46 | STK39 | 0.80601746 |
| 47 | PRKCG | 0.80174281 |
| 48 | FLT3 | 0.78255249 |
| 49 | EPHA3 | 0.76700676 |
| 50 | NUAK1 | 0.76085580 |
| 51 | ADRBK2 | 0.76013993 |
| 52 | MST4 | 0.73861775 |
| 53 | PINK1 | 0.73714803 |
| 54 | CSNK1A1L | 0.72120183 |
| 55 | SRPK1 | 0.71169869 |
| 56 | INSRR | 0.70698029 |
| 57 | ATM | 0.70221196 |
| 58 | STK38L | 0.68993599 |
| 59 | CDK3 | 0.67468451 |
| 60 | EIF2AK2 | 0.66081941 |
| 61 | NTRK3 | 0.64770394 |
| 62 | ADRBK1 | 0.64611119 |
| 63 | VRK1 | 0.62296318 |
| 64 | PTK2B | 0.61895652 |
| 65 | YES1 | 0.60425248 |
| 66 | SIK2 | 0.60291703 |
| 67 | PAK3 | 0.59067372 |
| 68 | MELK | 0.56224229 |
| 69 | CHEK2 | 0.54247306 |
| 70 | NLK | 0.52666887 |
| 71 | UHMK1 | 0.52234573 |
| 72 | ATR | 0.51918576 |
| 73 | STK11 | 0.49864587 |
| 74 | TAOK3 | 0.42694148 |
| 75 | FER | 0.42296951 |
| 76 | MAP2K4 | 0.41523588 |
| 77 | CAMK2D | 0.41346409 |
| 78 | FGFR1 | 0.40609117 |
| 79 | AURKB | 0.40027200 |
| 80 | STK3 | 0.39489707 |
| 81 | CAMK2A | 0.39471236 |
| 82 | PRKAA1 | 0.39104818 |
| 83 | DYRK3 | 0.38850075 |
| 84 | DYRK1A | 0.37975346 |
| 85 | MARK3 | 0.36461999 |
| 86 | SIK3 | 0.34873680 |
| 87 | RPS6KA4 | 0.34434119 |
| 88 | RPS6KB2 | 0.33190072 |
| 89 | DAPK2 | 0.32764896 |
| 90 | PRKACA | 0.32007474 |
| 91 | PRKDC | 0.30686421 |
| 92 | CSNK2A1 | 0.30145387 |
| 93 | PRKACB | 0.29664018 |
| 94 | CHEK1 | 0.27548161 |
| 95 | PRKCZ | 0.25762556 |
| 96 | CAMKK2 | 0.25608821 |
| 97 | ROCK1 | 0.25069336 |
| 98 | CSNK1E | 0.23866994 |
| 99 | GRK5 | 0.23107065 |
| 100 | MAP2K1 | 0.22609690 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Protein export_Homo sapiens_hsa03060 | 3.35796550 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.34790138 |
| 3 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 2.86706945 |
| 4 | Non-homologous end-joining_Homo sapiens_hsa03450 | 2.65335930 |
| 5 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 2.57333561 |
| 6 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.27659649 |
| 7 | Homologous recombination_Homo sapiens_hsa03440 | 2.25924753 |
| 8 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 2.14429585 |
| 9 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.93261368 |
| 10 | Nicotine addiction_Homo sapiens_hsa05033 | 1.92830180 |
| 11 | Steroid biosynthesis_Homo sapiens_hsa00100 | 1.90770046 |
| 12 | Phototransduction_Homo sapiens_hsa04744 | 1.78206313 |
| 13 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 1.78016797 |
| 14 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.76214420 |
| 15 | RNA degradation_Homo sapiens_hsa03018 | 1.74577910 |
| 16 | Basal transcription factors_Homo sapiens_hsa03022 | 1.71513664 |
| 17 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.66643512 |
| 18 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.61228829 |
| 19 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.59560185 |
| 20 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.58712843 |
| 21 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.56723112 |
| 22 | Oocyte meiosis_Homo sapiens_hsa04114 | 1.46928286 |
| 23 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 1.46404524 |
| 24 | Base excision repair_Homo sapiens_hsa03410 | 1.45976597 |
| 25 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.43705419 |
| 26 | Insulin secretion_Homo sapiens_hsa04911 | 1.40118850 |
| 27 | RNA polymerase_Homo sapiens_hsa03020 | 1.37039353 |
| 28 | Regulation of autophagy_Homo sapiens_hsa04140 | 1.33298284 |
| 29 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 1.32522840 |
| 30 | Proteasome_Homo sapiens_hsa03050 | 1.32114741 |
| 31 | Amphetamine addiction_Homo sapiens_hsa05031 | 1.29620822 |
| 32 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.29135191 |
| 33 | GABAergic synapse_Homo sapiens_hsa04727 | 1.28095991 |
| 34 | Parkinsons disease_Homo sapiens_hsa05012 | 1.27194255 |
| 35 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.24682613 |
| 36 | Circadian entrainment_Homo sapiens_hsa04713 | 1.24479920 |
| 37 | Peroxisome_Homo sapiens_hsa04146 | 1.23439437 |
| 38 | Dopaminergic synapse_Homo sapiens_hsa04728 | 1.23084801 |
| 39 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.21295244 |
| 40 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.15557075 |
| 41 | Mismatch repair_Homo sapiens_hsa03430 | 1.11678875 |
| 42 | Cell cycle_Homo sapiens_hsa04110 | 1.10880347 |
| 43 | Fatty acid metabolism_Homo sapiens_hsa01212 | 1.10285502 |
| 44 | Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040 | 1.08957648 |
| 45 | Taste transduction_Homo sapiens_hsa04742 | 1.00055378 |
| 46 | Huntingtons disease_Homo sapiens_hsa05016 | 0.98698320 |
| 47 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.98096490 |
| 48 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.94294731 |
| 49 | Olfactory transduction_Homo sapiens_hsa04740 | 0.93165031 |
| 50 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.92397060 |
| 51 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.90379877 |
| 52 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.89279004 |
| 53 | RNA transport_Homo sapiens_hsa03013 | 0.89221068 |
| 54 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 0.88489927 |
| 55 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.87188565 |
| 56 | Morphine addiction_Homo sapiens_hsa05032 | 0.87064718 |
| 57 | 2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210 | 0.85361641 |
| 58 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.84545644 |
| 59 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.82679391 |
| 60 | Lysine degradation_Homo sapiens_hsa00310 | 0.80352861 |
| 61 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.79874454 |
| 62 | Circadian rhythm_Homo sapiens_hsa04710 | 0.78985058 |
| 63 | Cocaine addiction_Homo sapiens_hsa05030 | 0.76291362 |
| 64 | Alzheimers disease_Homo sapiens_hsa05010 | 0.75428044 |
| 65 | DNA replication_Homo sapiens_hsa03030 | 0.72400162 |
| 66 | Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914 | 0.70768764 |
| 67 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.69273508 |
| 68 | Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970 | 0.67036832 |
| 69 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.66272786 |
| 70 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.62700549 |
| 71 | Melanogenesis_Homo sapiens_hsa04916 | 0.61376970 |
| 72 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.61330685 |
| 73 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 0.61102647 |
| 74 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.59567051 |
| 75 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.58119020 |
| 76 | mRNA surveillance pathway_Homo sapiens_hsa03015 | 0.57488417 |
| 77 | Wnt signaling pathway_Homo sapiens_hsa04310 | 0.55578923 |
| 78 | Salivary secretion_Homo sapiens_hsa04970 | 0.54536557 |
| 79 | Renin secretion_Homo sapiens_hsa04924 | 0.52909380 |
| 80 | Long-term depression_Homo sapiens_hsa04730 | 0.50170730 |
| 81 | Metabolic pathways_Homo sapiens_hsa01100 | 0.48882569 |
| 82 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.48441099 |
| 83 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 0.46813012 |
| 84 | Cysteine and methionine metabolism_Homo sapiens_hsa00270 | 0.46122919 |
| 85 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.45164043 |
| 86 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.44514190 |
| 87 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.44006698 |
| 88 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.43902262 |
| 89 | Purine metabolism_Homo sapiens_hsa00230 | 0.43891787 |
| 90 | Ubiquitin mediated proteolysis_Homo sapiens_hsa04120 | 0.42742558 |
| 91 | Alcoholism_Homo sapiens_hsa05034 | 0.42370040 |
| 92 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.42187491 |
| 93 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.41613059 |
| 94 | Spliceosome_Homo sapiens_hsa03040 | 0.40617498 |
| 95 | Gap junction_Homo sapiens_hsa04540 | 0.40366398 |
| 96 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.39706608 |
| 97 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.38951822 |
| 98 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.37959753 |
| 99 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.37432121 |
| 100 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.36424879 |

