

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | sperm motility (GO:0030317) | 6.65610075 |
| 2 | fusion of sperm to egg plasma membrane (GO:0007342) | 6.54513327 |
| 3 | acrosome reaction (GO:0007340) | 6.51494870 |
| 4 | regulation of cilium movement (GO:0003352) | 6.13161978 |
| 5 | response to pheromone (GO:0019236) | 5.63718975 |
| 6 | protein targeting to Golgi (GO:0000042) | 5.55107440 |
| 7 | plasma membrane fusion (GO:0045026) | 5.44932932 |
| 8 | protein polyglutamylation (GO:0018095) | 5.39276509 |
| 9 | establishment of protein localization to Golgi (GO:0072600) | 5.37030673 |
| 10 | centriole replication (GO:0007099) | 5.15146519 |
| 11 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 5.03528790 |
| 12 | microtubule depolymerization (GO:0007019) | 5.02092594 |
| 13 | axonemal dynein complex assembly (GO:0070286) | 4.83793128 |
| 14 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 4.77167000 |
| 15 | epithelial cilium movement (GO:0003351) | 4.67944656 |
| 16 | protein localization to Golgi apparatus (GO:0034067) | 4.53644425 |
| 17 | regulation of timing of cell differentiation (GO:0048505) | 4.45239020 |
| 18 | neuron fate determination (GO:0048664) | 4.31012383 |
| 19 | spermatid development (GO:0007286) | 4.29706476 |
| 20 | microtubule polymerization or depolymerization (GO:0031109) | 4.28544344 |
| 21 | cornea development in camera-type eye (GO:0061303) | 4.19267126 |
| 22 | regulation of development, heterochronic (GO:0040034) | 4.14835248 |
| 23 | multicellular organism reproduction (GO:0032504) | 4.13621088 |
| 24 | single strand break repair (GO:0000012) | 4.04326590 |
| 25 | somite development (GO:0061053) | 4.03337972 |
| 26 | calcium ion-dependent exocytosis (GO:0017156) | 4.01484053 |
| 27 | seminiferous tubule development (GO:0072520) | 3.95339402 |
| 28 | regulation of microtubule-based movement (GO:0060632) | 3.93196368 |
| 29 | spermatid nucleus differentiation (GO:0007289) | 3.92632104 |
| 30 | cilium movement (GO:0003341) | 3.78867419 |
| 31 | centriole assembly (GO:0098534) | 3.76140400 |
| 32 | axoneme assembly (GO:0035082) | 3.58744088 |
| 33 | male gamete generation (GO:0048232) | 3.54426369 |
| 34 | spermatogenesis (GO:0007283) | 3.53785728 |
| 35 | sperm-egg recognition (GO:0035036) | 3.51734483 |
| 36 | nonmotile primary cilium assembly (GO:0035058) | 3.37831280 |
| 37 | behavioral response to nicotine (GO:0035095) | 3.32766583 |
| 38 | microtubule severing (GO:0051013) | 3.31166139 |
| 39 | gamete generation (GO:0007276) | 3.30025103 |
| 40 | astrocyte differentiation (GO:0048708) | 3.24171783 |
| 41 | RNA destabilization (GO:0050779) | 3.23447846 |
| 42 | cellular ketone body metabolic process (GO:0046950) | 3.22993775 |
| 43 | reproduction (GO:0000003) | 3.22312266 |
| 44 | regulation of centriole replication (GO:0046599) | 3.17098513 |
| 45 | regulation of transcription involved in cell fate commitment (GO:0060850) | 3.14397124 |
| 46 | indole-containing compound catabolic process (GO:0042436) | 3.12909839 |
| 47 | indolalkylamine catabolic process (GO:0046218) | 3.12909839 |
| 48 | tryptophan catabolic process (GO:0006569) | 3.12909839 |
| 49 | cilium morphogenesis (GO:0060271) | 3.11793903 |
| 50 | smoothened signaling pathway (GO:0007224) | 3.10857990 |
| 51 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 3.09158838 |
| 52 | detection of light stimulus involved in sensory perception (GO:0050962) | 3.07818605 |
| 53 | detection of light stimulus involved in visual perception (GO:0050908) | 3.07818605 |
| 54 | nephron tubule morphogenesis (GO:0072078) | 3.05244578 |
| 55 | nephron epithelium morphogenesis (GO:0072088) | 3.05244578 |
| 56 | cell proliferation in forebrain (GO:0021846) | 3.05030063 |
| 57 | hindbrain development (GO:0030902) | 3.04975008 |
| 58 | DNA packaging (GO:0006323) | 2.99439241 |
| 59 | phosphatidylethanolamine metabolic process (GO:0046337) | 2.98669329 |
| 60 | rRNA methylation (GO:0031167) | 2.97061261 |
| 61 | sperm capacitation (GO:0048240) | 2.93576453 |
| 62 | substrate-independent telencephalic tangential migration (GO:0021826) | 2.92749394 |
| 63 | substrate-independent telencephalic tangential interneuron migration (GO:0021843) | 2.92749394 |
| 64 | cilium organization (GO:0044782) | 2.92258953 |
| 65 | spinal cord motor neuron differentiation (GO:0021522) | 2.91575404 |
| 66 | positive regulation of gastrulation (GO:2000543) | 2.90151694 |
| 67 | chromosome condensation (GO:0030261) | 2.89295292 |
| 68 | water-soluble vitamin biosynthetic process (GO:0042364) | 2.86243389 |
| 69 | ketone body metabolic process (GO:1902224) | 2.85917415 |
| 70 | positive regulation of cell fate commitment (GO:0010455) | 2.85820935 |
| 71 | synapsis (GO:0007129) | 2.84281105 |
| 72 | photoreceptor cell development (GO:0042461) | 2.83642544 |
| 73 | cilium assembly (GO:0042384) | 2.82791643 |
| 74 | postsynaptic membrane organization (GO:0001941) | 2.81719787 |
| 75 | single fertilization (GO:0007338) | 2.80959197 |
| 76 | cell wall macromolecule catabolic process (GO:0016998) | 2.79909707 |
| 77 | L-fucose catabolic process (GO:0042355) | 2.79313462 |
| 78 | fucose catabolic process (GO:0019317) | 2.79313462 |
| 79 | L-fucose metabolic process (GO:0042354) | 2.79313462 |
| 80 | cell-cell recognition (GO:0009988) | 2.78982607 |
| 81 | brain morphogenesis (GO:0048854) | 2.77479621 |
| 82 | microtubule nucleation (GO:0007020) | 2.76132202 |
| 83 | detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) | 2.73834438 |
| 84 | positive regulation of neuroblast proliferation (GO:0002052) | 2.71081010 |
| 85 | rRNA modification (GO:0000154) | 2.70316227 |
| 86 | ribosomal small subunit assembly (GO:0000028) | 2.69437134 |
| 87 | negative regulation of oligodendrocyte differentiation (GO:0048715) | 2.68990696 |
| 88 | DNA deamination (GO:0045006) | 2.68724689 |
| 89 | artery development (GO:0060840) | 2.68228441 |
| 90 | pituitary gland development (GO:0021983) | 2.65604565 |
| 91 | resolution of meiotic recombination intermediates (GO:0000712) | 2.65413984 |
| 92 | positive regulation of respiratory burst (GO:0060267) | 2.65365796 |
| 93 | eye photoreceptor cell development (GO:0042462) | 2.64437961 |
| 94 | motile cilium assembly (GO:0044458) | 2.63011008 |
| 95 | fertilization (GO:0009566) | 2.59653478 |
| 96 | estrogen biosynthetic process (GO:0006703) | 2.57861150 |
| 97 | regulation of meiosis I (GO:0060631) | 2.57829972 |
| 98 | dentate gyrus development (GO:0021542) | 2.57400126 |
| 99 | kynurenine metabolic process (GO:0070189) | 2.56791144 |
| 100 | negative regulation of astrocyte differentiation (GO:0048712) | 2.55181334 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 3.27565294 |
| 2 | ZNF274_21170338_ChIP-Seq_K562_Hela | 2.76373461 |
| 3 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.70734639 |
| 4 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.55195132 |
| 5 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 2.52611509 |
| 6 | FUS_26573619_Chip-Seq_HEK293_Human | 2.49489457 |
| 7 | * CTBP2_25329375_ChIP-Seq_LNCAP_Human | 2.37582614 |
| 8 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 2.26382695 |
| 9 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.20423733 |
| 10 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.15589554 |
| 11 | P300_19829295_ChIP-Seq_ESCs_Human | 2.09329932 |
| 12 | VDR_22108803_ChIP-Seq_LS180_Human | 2.04839373 |
| 13 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.94658532 |
| 14 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.93794212 |
| 15 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.93794212 |
| 16 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.92700501 |
| 17 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.92700501 |
| 18 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.90061583 |
| 19 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.88258951 |
| 20 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.88185035 |
| 21 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.85579804 |
| 22 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 1.83980969 |
| 23 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.82518902 |
| 24 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.76033164 |
| 25 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.75749879 |
| 26 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.71796514 |
| 27 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.68988572 |
| 28 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.68522346 |
| 29 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.67146119 |
| 30 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.65052813 |
| 31 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.61822775 |
| 32 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.59829910 |
| 33 | EZH2_27304074_Chip-Seq_ESCs_Mouse | 1.58562633 |
| 34 | EWS_26573619_Chip-Seq_HEK293_Human | 1.57432743 |
| 35 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.56796440 |
| 36 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.52525613 |
| 37 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 1.52427936 |
| 38 | AR_25329375_ChIP-Seq_VCAP_Human | 1.50171530 |
| 39 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.46812415 |
| 40 | TOP2B_26459242_ChIP-Seq_MCF-7_Human | 1.45975222 |
| 41 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 1.43078273 |
| 42 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.42168184 |
| 43 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.40837429 |
| 44 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.38668765 |
| 45 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.38407221 |
| 46 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 1.38141150 |
| 47 | NR3C1_21868756_ChIP-Seq_MCF10A_Human | 1.37437481 |
| 48 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 1.36784322 |
| 49 | STAT3_23295773_ChIP-Seq_U87_Human | 1.36394949 |
| 50 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.36050778 |
| 51 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.35733205 |
| 52 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.35443405 |
| 53 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.33914797 |
| 54 | RNF2_27304074_Chip-Seq_NSC_Mouse | 1.33127178 |
| 55 | JARID2_20064375_ChIP-Seq_MESCs_Mouse | 1.31201799 |
| 56 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.30116888 |
| 57 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.30116888 |
| 58 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 1.28493604 |
| 59 | EED_16625203_ChIP-ChIP_MESCs_Mouse | 1.26550856 |
| 60 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 1.26271577 |
| 61 | NCOR_22424771_ChIP-Seq_293T_Human | 1.26185962 |
| 62 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.26042371 |
| 63 | MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse | 1.25773642 |
| 64 | TCF4_23295773_ChIP-Seq_U87_Human | 1.25471494 |
| 65 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.25080908 |
| 66 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.24655649 |
| 67 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.24436763 |
| 68 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.23337862 |
| 69 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.23337862 |
| 70 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.22570677 |
| 71 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 1.21460880 |
| 72 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.19454565 |
| 73 | TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human | 1.19389598 |
| 74 | PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human | 1.17886146 |
| 75 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 1.16472902 |
| 76 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.15849701 |
| 77 | PRDM14_20953172_ChIP-Seq_ESCs_Human | 1.14301959 |
| 78 | ERA_21632823_ChIP-Seq_H3396_Human | 1.14294639 |
| 79 | SMARCD1_25818293_ChIP-Seq_ESCs_Mouse | 1.13671268 |
| 80 | SMAD3_21741376_ChIP-Seq_ESCs_Human | 1.13119924 |
| 81 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 1.12949818 |
| 82 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 1.12366940 |
| 83 | * NANOG_20526341_ChIP-Seq_ESCs_Human | 1.11137601 |
| 84 | TCF4_22108803_ChIP-Seq_LS180_Human | 1.10052105 |
| 85 | SUZ12_18692474_ChIP-Seq_MESCs_Mouse | 1.09980038 |
| 86 | NFE2_27457419_Chip-Seq_LIVER_Mouse | 1.09968442 |
| 87 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.08795936 |
| 88 | SUZ12_18555785_ChIP-Seq_MESCs_Mouse | 1.08729565 |
| 89 | PHF8_20622853_ChIP-Seq_HELA_Human | 1.08317600 |
| 90 | SUZ12_27294783_Chip-Seq_NPCs_Mouse | 1.06715412 |
| 91 | ETV1_20927104_ChIP-Seq_GIST48_Human | 1.06014781 |
| 92 | WDR5_24793694_ChIP-Seq_LNCAP_Human | 1.05250759 |
| 93 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 1.05223837 |
| 94 | NANOG_18555785_Chip-Seq_ESCs_Mouse | 1.04660142 |
| 95 | TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 1.04228449 |
| 96 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.03812119 |
| 97 | JARID2_20075857_ChIP-Seq_MESCs_Mouse | 1.03213936 |
| 98 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.03172234 |
| 99 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.02978412 |
| 100 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 1.02156082 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0006292_abnormal_olfactory_placode | 5.56843287 |
| 2 | MP0005410_abnormal_fertilization | 4.06240965 |
| 3 | MP0008789_abnormal_olfactory_epithelium | 3.48577370 |
| 4 | MP0003878_abnormal_ear_physiology | 2.86871285 |
| 5 | MP0005377_hearing/vestibular/ear_phenot | 2.86871285 |
| 6 | MP0005499_abnormal_olfactory_system | 2.85097402 |
| 7 | MP0005394_taste/olfaction_phenotype | 2.85097402 |
| 8 | MP0002638_abnormal_pupillary_reflex | 2.73703048 |
| 9 | MP0003787_abnormal_imprinting | 2.73477164 |
| 10 | MP0002938_white_spotting | 2.69618042 |
| 11 | MP0008877_abnormal_DNA_methylation | 2.58476820 |
| 12 | MP0003011_delayed_dark_adaptation | 2.44960839 |
| 13 | MP0001485_abnormal_pinna_reflex | 2.44093442 |
| 14 | MP0002234_abnormal_pharynx_morphology | 2.41865154 |
| 15 | MP0009379_abnormal_foot_pigmentation | 2.20124105 |
| 16 | MP0004885_abnormal_endolymph | 2.02057444 |
| 17 | MP0005551_abnormal_eye_electrophysiolog | 1.98674822 |
| 18 | MP0000566_synostosis | 1.89170690 |
| 19 | MP0004742_abnormal_vestibular_system | 1.80755039 |
| 20 | MP0003698_abnormal_male_reproductive | 1.76291172 |
| 21 | MP0003880_abnormal_central_pattern | 1.74557848 |
| 22 | MP0005253_abnormal_eye_physiology | 1.72008174 |
| 23 | MP0001984_abnormal_olfaction | 1.70846928 |
| 24 | MP0001929_abnormal_gametogenesis | 1.62239681 |
| 25 | MP0001968_abnormal_touch/_nociception | 1.60730817 |
| 26 | MP0000049_abnormal_middle_ear | 1.57143151 |
| 27 | MP0001486_abnormal_startle_reflex | 1.55848270 |
| 28 | MP0003136_yellow_coat_color | 1.54278331 |
| 29 | MP0002102_abnormal_ear_morphology | 1.53150369 |
| 30 | MP0002653_abnormal_ependyma_morphology | 1.51296085 |
| 31 | MP0006072_abnormal_retinal_apoptosis | 1.50746782 |
| 32 | MP0000631_abnormal_neuroendocrine_gland | 1.48707482 |
| 33 | MP0004142_abnormal_muscle_tone | 1.42958387 |
| 34 | MP0005257_abnormal_intraocular_pressure | 1.39819824 |
| 35 | MP0009046_muscle_twitch | 1.39484148 |
| 36 | MP0002557_abnormal_social/conspecific_i | 1.39291955 |
| 37 | MP0009745_abnormal_behavioral_response | 1.37696661 |
| 38 | MP0005379_endocrine/exocrine_gland_phen | 1.36840328 |
| 39 | MP0003121_genomic_imprinting | 1.36558958 |
| 40 | MP0000778_abnormal_nervous_system | 1.34619286 |
| 41 | MP0002272_abnormal_nervous_system | 1.32747201 |
| 42 | MP0000026_abnormal_inner_ear | 1.29610818 |
| 43 | MP0006276_abnormal_autonomic_nervous | 1.28222120 |
| 44 | MP0002837_dystrophic_cardiac_calcinosis | 1.25858536 |
| 45 | MP0005645_abnormal_hypothalamus_physiol | 1.24787127 |
| 46 | MP0004133_heterotaxia | 1.24332784 |
| 47 | MP0002572_abnormal_emotion/affect_behav | 1.23786485 |
| 48 | MP0005423_abnormal_somatic_nervous | 1.17749659 |
| 49 | MP0000427_abnormal_hair_cycle | 1.17312879 |
| 50 | MP0001963_abnormal_hearing_physiology | 1.13564438 |
| 51 | MP0005084_abnormal_gallbladder_morpholo | 1.12301167 |
| 52 | MP0003646_muscle_fatigue | 1.08897712 |
| 53 | MP0002249_abnormal_larynx_morphology | 1.06821324 |
| 54 | MP0002282_abnormal_trachea_morphology | 1.06183283 |
| 55 | MP0002733_abnormal_thermal_nociception | 1.05106369 |
| 56 | MP0002735_abnormal_chemical_nociception | 1.04929289 |
| 57 | MP0005195_abnormal_posterior_eye | 1.04679153 |
| 58 | MP0003938_abnormal_ear_development | 1.03577988 |
| 59 | MP0002210_abnormal_sex_determination | 1.03218183 |
| 60 | MP0005391_vision/eye_phenotype | 1.03167837 |
| 61 | MP0002163_abnormal_gland_morphology | 0.99729819 |
| 62 | MP0001986_abnormal_taste_sensitivity | 0.99619942 |
| 63 | MP0001501_abnormal_sleep_pattern | 0.99487113 |
| 64 | MP0008872_abnormal_physiological_respon | 0.98234465 |
| 65 | MP0000569_abnormal_digit_pigmentation | 0.98058935 |
| 66 | MP0005646_abnormal_pituitary_gland | 0.96326304 |
| 67 | MP0002067_abnormal_sensory_capabilities | 0.96118926 |
| 68 | MP0003195_calcinosis | 0.95700482 |
| 69 | MP0002160_abnormal_reproductive_system | 0.94308002 |
| 70 | MP0002161_abnormal_fertility/fecundity | 0.93762011 |
| 71 | MP0003718_maternal_effect | 0.92825000 |
| 72 | MP0001293_anophthalmia | 0.92823768 |
| 73 | MP0001970_abnormal_pain_threshold | 0.91593573 |
| 74 | MP0003635_abnormal_synaptic_transmissio | 0.88134461 |
| 75 | MP0002752_abnormal_somatic_nervous | 0.87940260 |
| 76 | MP0002064_seizures | 0.87646468 |
| 77 | MP0000613_abnormal_salivary_gland | 0.86371282 |
| 78 | MP0002736_abnormal_nociception_after | 0.85021621 |
| 79 | MP0004859_abnormal_synaptic_plasticity | 0.84283910 |
| 80 | MP0002063_abnormal_learning/memory/cond | 0.84190865 |
| 81 | MP0002928_abnormal_bile_duct | 0.83141362 |
| 82 | MP0001905_abnormal_dopamine_level | 0.82464446 |
| 83 | MP0001944_abnormal_pancreas_morphology | 0.81963383 |
| 84 | MP0000653_abnormal_sex_gland | 0.81622877 |
| 85 | MP0003122_maternal_imprinting | 0.81010013 |
| 86 | MP0001529_abnormal_vocalization | 0.78968301 |
| 87 | MP0000955_abnormal_spinal_cord | 0.78923431 |
| 88 | MP0003283_abnormal_digestive_organ | 0.78620112 |
| 89 | MP0001502_abnormal_circadian_rhythm | 0.78352447 |
| 90 | MP0003937_abnormal_limbs/digits/tail_de | 0.76807396 |
| 91 | MP0002184_abnormal_innervation | 0.75886223 |
| 92 | MP0002734_abnormal_mechanical_nocicepti | 0.75254776 |
| 93 | MP0002876_abnormal_thyroid_physiology | 0.75029873 |
| 94 | MP0001145_abnormal_male_reproductive | 0.74326851 |
| 95 | MP0005670_abnormal_white_adipose | 0.70511472 |
| 96 | MP0002095_abnormal_skin_pigmentation | 0.70229000 |
| 97 | MP0002138_abnormal_hepatobiliary_system | 0.69677423 |
| 98 | MP0002882_abnormal_neuron_morphology | 0.69548731 |
| 99 | MP0001286_abnormal_eye_development | 0.69339543 |
| 100 | MP0001324_abnormal_eye_pigmentation | 0.69170741 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Aplasia/Hypoplasia of the fovea (HP:0008060) | 4.20819931 |
| 2 | Hypoplasia of the fovea (HP:0007750) | 4.20819931 |
| 3 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 3.75396322 |
| 4 | Absent/shortened dynein arms (HP:0200106) | 3.75396322 |
| 5 | Optic nerve hypoplasia (HP:0000609) | 3.69567125 |
| 6 | Nephronophthisis (HP:0000090) | 3.53885392 |
| 7 | Abnormal respiratory motile cilium morphology (HP:0005938) | 3.53009734 |
| 8 | Abnormal respiratory epithelium morphology (HP:0012253) | 3.53009734 |
| 9 | Molar tooth sign on MRI (HP:0002419) | 3.45050162 |
| 10 | Abnormality of midbrain morphology (HP:0002418) | 3.45050162 |
| 11 | Aplasia/Hypoplasia of the optic nerve (HP:0008058) | 3.38078482 |
| 12 | Abnormality of macular pigmentation (HP:0008002) | 3.36756859 |
| 13 | Congenital stationary night blindness (HP:0007642) | 3.33168896 |
| 14 | Abnormality of the fovea (HP:0000493) | 3.28683386 |
| 15 | Chronic hepatic failure (HP:0100626) | 3.14468393 |
| 16 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.14134925 |
| 17 | Abnormality of the renal medulla (HP:0100957) | 3.11987182 |
| 18 | Abnormality of the renal cortex (HP:0011035) | 3.06195131 |
| 19 | Severe visual impairment (HP:0001141) | 3.05940849 |
| 20 | True hermaphroditism (HP:0010459) | 2.98952352 |
| 21 | Attenuation of retinal blood vessels (HP:0007843) | 2.93289067 |
| 22 | Pancreatic cysts (HP:0001737) | 2.92140174 |
| 23 | Pancreatic fibrosis (HP:0100732) | 2.88096376 |
| 24 | Type II lissencephaly (HP:0007260) | 2.88071621 |
| 25 | Abnormal ciliary motility (HP:0012262) | 2.85600693 |
| 26 | Intestinal atresia (HP:0011100) | 2.84744438 |
| 27 | Tubulointerstitial nephritis (HP:0001970) | 2.81294154 |
| 28 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.70484322 |
| 29 | Hyperglycinemia (HP:0002154) | 2.59941738 |
| 30 | Pendular nystagmus (HP:0012043) | 2.57401841 |
| 31 | Oligodactyly (hands) (HP:0001180) | 2.53601983 |
| 32 | Aplasia/Hypoplasia of the macula (HP:0008059) | 2.51662385 |
| 33 | Respiratory insufficiency due to defective ciliary clearance (HP:0200073) | 2.49063515 |
| 34 | Medial flaring of the eyebrow (HP:0010747) | 2.42638496 |
| 35 | Tubular atrophy (HP:0000092) | 2.40576790 |
| 36 | Aplasia/Hypoplasia affecting the fundus (HP:0008057) | 2.36626039 |
| 37 | Aplasia/Hypoplasia affecting the retina (HP:0008061) | 2.36157129 |
| 38 | Esophageal atresia (HP:0002032) | 2.34152675 |
| 39 | Decreased central vision (HP:0007663) | 2.34034320 |
| 40 | Progressive cerebellar ataxia (HP:0002073) | 2.31050752 |
| 41 | Growth hormone deficiency (HP:0000824) | 2.30308166 |
| 42 | Abnormal drinking behavior (HP:0030082) | 2.24950635 |
| 43 | Polydipsia (HP:0001959) | 2.24950635 |
| 44 | Gastrointestinal atresia (HP:0002589) | 2.24705498 |
| 45 | Acute necrotizing encephalopathy (HP:0006965) | 2.23207173 |
| 46 | Septo-optic dysplasia (HP:0100842) | 2.20864766 |
| 47 | Polyuria (HP:0000103) | 2.20803309 |
| 48 | Hypoplasia of the pons (HP:0012110) | 2.19303575 |
| 49 | Bony spicule pigmentary retinopathy (HP:0007737) | 2.17880367 |
| 50 | Oligodactyly (HP:0012165) | 2.16844655 |
| 51 | Cone-rod dystrophy (HP:0000548) | 2.16514777 |
| 52 | Cerebellar dysplasia (HP:0007033) | 2.12543245 |
| 53 | Gait imbalance (HP:0002141) | 2.12065209 |
| 54 | Acute encephalopathy (HP:0006846) | 2.10657549 |
| 55 | Congenital malformation of the right heart (HP:0011723) | 2.10562384 |
| 56 | Double outlet right ventricle (HP:0001719) | 2.10562384 |
| 57 | Optic nerve coloboma (HP:0000588) | 2.09984941 |
| 58 | Bilateral microphthalmos (HP:0007633) | 2.07621634 |
| 59 | Renal cortical cysts (HP:0000803) | 2.07348140 |
| 60 | Colon cancer (HP:0003003) | 2.07062503 |
| 61 | Rhinitis (HP:0012384) | 2.06256578 |
| 62 | Median cleft lip (HP:0000161) | 2.05145148 |
| 63 | Tubulointerstitial abnormality (HP:0001969) | 2.04271862 |
| 64 | Reticulocytopenia (HP:0001896) | 2.03636919 |
| 65 | Abnormality of cochlea (HP:0000375) | 2.03236856 |
| 66 | Adrenal hypoplasia (HP:0000835) | 2.00695427 |
| 67 | Impulsivity (HP:0100710) | 1.99726780 |
| 68 | Renal Fanconi syndrome (HP:0001994) | 1.98794539 |
| 69 | Abnormal urine output (HP:0012590) | 1.98216561 |
| 70 | Abnormality of the pons (HP:0007361) | 1.97978099 |
| 71 | Congenital primary aphakia (HP:0007707) | 1.96775557 |
| 72 | Mitochondrial inheritance (HP:0001427) | 1.93666156 |
| 73 | Renal dysplasia (HP:0000110) | 1.91235920 |
| 74 | Progressive macrocephaly (HP:0004481) | 1.90876805 |
| 75 | Retinal dysplasia (HP:0007973) | 1.87244599 |
| 76 | Anophthalmia (HP:0000528) | 1.85991909 |
| 77 | Postaxial foot polydactyly (HP:0001830) | 1.85618981 |
| 78 | Supernumerary spleens (HP:0009799) | 1.84614588 |
| 79 | Congenital, generalized hypertrichosis (HP:0004540) | 1.83224863 |
| 80 | Focal motor seizures (HP:0011153) | 1.82938902 |
| 81 | Inability to walk (HP:0002540) | 1.82603750 |
| 82 | Abolished electroretinogram (ERG) (HP:0000550) | 1.80977664 |
| 83 | Abnormality of the aortic arch (HP:0012303) | 1.80625610 |
| 84 | Anencephaly (HP:0002323) | 1.79233327 |
| 85 | Abnormal mitochondria in muscle tissue (HP:0008316) | 1.78259565 |
| 86 | Hyperventilation (HP:0002883) | 1.78135256 |
| 87 | Chronic sinusitis (HP:0011109) | 1.77131528 |
| 88 | Sclerocornea (HP:0000647) | 1.76291376 |
| 89 | Amelogenesis imperfecta (HP:0000705) | 1.74044531 |
| 90 | Stage 5 chronic kidney disease (HP:0003774) | 1.73843224 |
| 91 | Genital tract atresia (HP:0001827) | 1.73644401 |
| 92 | Abnormality of urine glucose concentration (HP:0011016) | 1.72511726 |
| 93 | Glycosuria (HP:0003076) | 1.72511726 |
| 94 | Congenital hepatic fibrosis (HP:0002612) | 1.71595837 |
| 95 | Depressed nasal tip (HP:0000437) | 1.71311129 |
| 96 | Nephrogenic diabetes insipidus (HP:0009806) | 1.71253011 |
| 97 | Limb dystonia (HP:0002451) | 1.70455156 |
| 98 | Midline defect of the nose (HP:0004122) | 1.70261654 |
| 99 | Abnormality of renal excretion (HP:0011036) | 1.68652459 |
| 100 | Vaginal atresia (HP:0000148) | 1.68618832 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | PLK4 | 4.26082311 |
| 2 | INSRR | 4.23236144 |
| 3 | MAP4K2 | 3.39458692 |
| 4 | FRK | 3.14637670 |
| 5 | MAPK13 | 2.61957432 |
| 6 | PLK2 | 2.55261690 |
| 7 | PNCK | 2.39582356 |
| 8 | STK38L | 2.25854152 |
| 9 | WNK3 | 2.24415480 |
| 10 | TNIK | 2.21919029 |
| 11 | TAF1 | 2.15082129 |
| 12 | CASK | 2.09722009 |
| 13 | PTK2B | 2.06553189 |
| 14 | ZAK | 2.04545042 |
| 15 | TAOK3 | 2.03498750 |
| 16 | MAPK15 | 1.99818247 |
| 17 | TLK1 | 1.80231547 |
| 18 | ADRBK2 | 1.77424445 |
| 19 | GRK1 | 1.74217479 |
| 20 | BRSK2 | 1.70260400 |
| 21 | MARK1 | 1.55575572 |
| 22 | MAP3K4 | 1.52801203 |
| 23 | TYRO3 | 1.43014375 |
| 24 | DYRK2 | 1.37647683 |
| 25 | VRK2 | 1.34209169 |
| 26 | BRD4 | 1.33721739 |
| 27 | VRK1 | 1.31595599 |
| 28 | OXSR1 | 1.29698717 |
| 29 | NLK | 1.14653159 |
| 30 | NME1 | 1.13178002 |
| 31 | STK39 | 1.12017512 |
| 32 | WNK4 | 1.11320832 |
| 33 | PRKCG | 1.10510274 |
| 34 | CSNK1G1 | 1.04148784 |
| 35 | CDK19 | 1.04007531 |
| 36 | CSNK1G3 | 0.99438459 |
| 37 | NUAK1 | 0.95963793 |
| 38 | STK38 | 0.95480793 |
| 39 | CAMK1G | 0.94745276 |
| 40 | CSNK1G2 | 0.92595127 |
| 41 | MUSK | 0.92476233 |
| 42 | NTRK3 | 0.92197298 |
| 43 | IRAK2 | 0.92173886 |
| 44 | HIPK2 | 0.90877250 |
| 45 | BMPR1B | 0.88104926 |
| 46 | CDC7 | 0.87691113 |
| 47 | PINK1 | 0.85091428 |
| 48 | PIK3CG | 0.82308686 |
| 49 | TIE1 | 0.80871765 |
| 50 | EPHB2 | 0.80196794 |
| 51 | PRKCE | 0.76503414 |
| 52 | WNK1 | 0.75864050 |
| 53 | CAMK1 | 0.75784048 |
| 54 | PKN1 | 0.72957016 |
| 55 | EPHA4 | 0.72078906 |
| 56 | BCR | 0.71615388 |
| 57 | KIT | 0.71449810 |
| 58 | DYRK1B | 0.70746484 |
| 59 | BCKDK | 0.69324546 |
| 60 | PAK3 | 0.67636899 |
| 61 | NTRK2 | 0.67523045 |
| 62 | AKT3 | 0.67372673 |
| 63 | DDR2 | 0.66522878 |
| 64 | MAP2K7 | 0.64054602 |
| 65 | PLK3 | 0.63526992 |
| 66 | WEE1 | 0.62928193 |
| 67 | CDK3 | 0.61492421 |
| 68 | GRK5 | 0.61452849 |
| 69 | PRKG1 | 0.60212463 |
| 70 | CSNK1A1L | 0.59378289 |
| 71 | BRSK1 | 0.56742125 |
| 72 | TESK1 | 0.55304033 |
| 73 | CSNK1D | 0.52927986 |
| 74 | CSNK1A1 | 0.52788248 |
| 75 | DAPK2 | 0.52446250 |
| 76 | PRKACA | 0.51800663 |
| 77 | SGK2 | 0.50899250 |
| 78 | PHKG1 | 0.50437455 |
| 79 | PHKG2 | 0.50437455 |
| 80 | PIK3CA | 0.48912696 |
| 81 | CHEK2 | 0.47502987 |
| 82 | CAMKK2 | 0.43600738 |
| 83 | STK3 | 0.43405106 |
| 84 | FER | 0.41041793 |
| 85 | SGK223 | 0.40997942 |
| 86 | SGK494 | 0.40997942 |
| 87 | PRKCZ | 0.40522369 |
| 88 | ADRBK1 | 0.39380334 |
| 89 | PRKAA2 | 0.39300402 |
| 90 | FLT3 | 0.39180758 |
| 91 | CAMK2A | 0.38480010 |
| 92 | IRAK1 | 0.37444231 |
| 93 | RPS6KA5 | 0.37279814 |
| 94 | ACVR1B | 0.36035091 |
| 95 | STK16 | 0.34677871 |
| 96 | CAMK1D | 0.33812428 |
| 97 | PLK1 | 0.32466078 |
| 98 | TXK | 0.30269422 |
| 99 | CSNK1E | 0.30264064 |
| 100 | MKNK2 | 0.29674870 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 3.59597513 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.42283146 |
| 3 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 2.61584279 |
| 4 | Phototransduction_Homo sapiens_hsa04744 | 2.58936244 |
| 5 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 2.44763605 |
| 6 | Parkinsons disease_Homo sapiens_hsa05012 | 2.25028793 |
| 7 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.23816831 |
| 8 | Nicotine addiction_Homo sapiens_hsa05033 | 2.19627464 |
| 9 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 2.07705330 |
| 10 | Olfactory transduction_Homo sapiens_hsa04740 | 2.02640936 |
| 11 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.97716036 |
| 12 | Ribosome_Homo sapiens_hsa03010 | 1.92360390 |
| 13 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 1.88178156 |
| 14 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.84666211 |
| 15 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 1.71341027 |
| 16 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 1.70745916 |
| 17 | Huntingtons disease_Homo sapiens_hsa05016 | 1.67752296 |
| 18 | Morphine addiction_Homo sapiens_hsa05032 | 1.64071027 |
| 19 | Taste transduction_Homo sapiens_hsa04742 | 1.53993370 |
| 20 | RNA polymerase_Homo sapiens_hsa03020 | 1.52824701 |
| 21 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.50834548 |
| 22 | Homologous recombination_Homo sapiens_hsa03440 | 1.49212819 |
| 23 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 1.45509787 |
| 24 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 1.45498655 |
| 25 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 1.44593759 |
| 26 | Alzheimers disease_Homo sapiens_hsa05010 | 1.41540789 |
| 27 | Nitrogen metabolism_Homo sapiens_hsa00910 | 1.38795341 |
| 28 | Insulin secretion_Homo sapiens_hsa04911 | 1.38000350 |
| 29 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.36185535 |
| 30 | RNA degradation_Homo sapiens_hsa03018 | 1.34010011 |
| 31 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.27411914 |
| 32 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 1.25024603 |
| 33 | Mismatch repair_Homo sapiens_hsa03430 | 1.18216441 |
| 34 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.18202026 |
| 35 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.17632827 |
| 36 | GABAergic synapse_Homo sapiens_hsa04727 | 1.17121611 |
| 37 | Circadian entrainment_Homo sapiens_hsa04713 | 1.15583834 |
| 38 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 1.13010942 |
| 39 | Retinol metabolism_Homo sapiens_hsa00830 | 1.10045847 |
| 40 | Protein export_Homo sapiens_hsa03060 | 1.08969094 |
| 41 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.06608580 |
| 42 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 1.05055884 |
| 43 | Glutamatergic synapse_Homo sapiens_hsa04724 | 1.04318443 |
| 44 | Circadian rhythm_Homo sapiens_hsa04710 | 1.04131819 |
| 45 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 1.01209533 |
| 46 | Selenocompound metabolism_Homo sapiens_hsa00450 | 0.99849748 |
| 47 | RNA transport_Homo sapiens_hsa03013 | 0.99673978 |
| 48 | Peroxisome_Homo sapiens_hsa04146 | 0.95863215 |
| 49 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.93833980 |
| 50 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.93543234 |
| 51 | Cocaine addiction_Homo sapiens_hsa05030 | 0.92789485 |
| 52 | Proteasome_Homo sapiens_hsa03050 | 0.92186288 |
| 53 | Sulfur relay system_Homo sapiens_hsa04122 | 0.90652283 |
| 54 | Ether lipid metabolism_Homo sapiens_hsa00565 | 0.89113304 |
| 55 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.87127687 |
| 56 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.85376007 |
| 57 | Basal transcription factors_Homo sapiens_hsa03022 | 0.84211767 |
| 58 | Base excision repair_Homo sapiens_hsa03410 | 0.80567331 |
| 59 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.80538115 |
| 60 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.77181000 |
| 61 | Salivary secretion_Homo sapiens_hsa04970 | 0.76257069 |
| 62 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.72882213 |
| 63 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 0.72406589 |
| 64 | Purine metabolism_Homo sapiens_hsa00230 | 0.71332996 |
| 65 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.68896905 |
| 66 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.68567352 |
| 67 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.68116359 |
| 68 | Nucleotide excision repair_Homo sapiens_hsa03420 | 0.65834304 |
| 69 | Metabolic pathways_Homo sapiens_hsa01100 | 0.63075656 |
| 70 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 0.60633171 |
| 71 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.60383169 |
| 72 | Graft-versus-host disease_Homo sapiens_hsa05332 | 0.59254466 |
| 73 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.58739973 |
| 74 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.58204092 |
| 75 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.57504273 |
| 76 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.56515400 |
| 77 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.55097107 |
| 78 | Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534 | 0.54871509 |
| 79 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 0.52815430 |
| 80 | ABC transporters_Homo sapiens_hsa02010 | 0.52610215 |
| 81 | Allograft rejection_Homo sapiens_hsa05330 | 0.52319797 |
| 82 | Asthma_Homo sapiens_hsa05310 | 0.52252909 |
| 83 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.51868987 |
| 84 | Other types of O-glycan biosynthesis_Homo sapiens_hsa00514 | 0.48034456 |
| 85 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.46603216 |
| 86 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.46398879 |
| 87 | Folate biosynthesis_Homo sapiens_hsa00790 | 0.46095752 |
| 88 | DNA replication_Homo sapiens_hsa03030 | 0.45408912 |
| 89 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.44576256 |
| 90 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.44115376 |
| 91 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.42890462 |
| 92 | Autoimmune thyroid disease_Homo sapiens_hsa05320 | 0.42773673 |
| 93 | Bile secretion_Homo sapiens_hsa04976 | 0.41030502 |
| 94 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.40952110 |
| 95 | Vitamin B6 metabolism_Homo sapiens_hsa00750 | 0.40784127 |
| 96 | Oocyte meiosis_Homo sapiens_hsa04114 | 0.39464390 |
| 97 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 0.39284738 |
| 98 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.38666770 |
| 99 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.36827180 |
| 100 | Renin secretion_Homo sapiens_hsa04924 | 0.36249189 |

