

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | response to pheromone (GO:0019236) | 5.65540612 |
| 2 | behavioral response to nicotine (GO:0035095) | 5.64243642 |
| 3 | rRNA methylation (GO:0031167) | 5.32435022 |
| 4 | sperm motility (GO:0030317) | 5.13278719 |
| 5 | acrosome reaction (GO:0007340) | 4.89619692 |
| 6 | detection of light stimulus involved in sensory perception (GO:0050962) | 4.81019134 |
| 7 | detection of light stimulus involved in visual perception (GO:0050908) | 4.81019134 |
| 8 | cellular ketone body metabolic process (GO:0046950) | 4.78876759 |
| 9 | rRNA modification (GO:0000154) | 4.72927172 |
| 10 | ketone body metabolic process (GO:1902224) | 4.22007492 |
| 11 | protein polyglutamylation (GO:0018095) | 4.12772678 |
| 12 | regulation of cilium movement (GO:0003352) | 4.01481412 |
| 13 | multicellular organism reproduction (GO:0032504) | 3.97628184 |
| 14 | nephron epithelium morphogenesis (GO:0072088) | 3.89281004 |
| 15 | nephron tubule morphogenesis (GO:0072078) | 3.89281004 |
| 16 | spermatid development (GO:0007286) | 3.87048704 |
| 17 | microtubule depolymerization (GO:0007019) | 3.84460378 |
| 18 | water-soluble vitamin biosynthetic process (GO:0042364) | 3.83473317 |
| 19 | meiotic chromosome segregation (GO:0045132) | 3.81113822 |
| 20 | L-fucose catabolic process (GO:0042355) | 3.74580235 |
| 21 | fucose catabolic process (GO:0019317) | 3.74580235 |
| 22 | L-fucose metabolic process (GO:0042354) | 3.74580235 |
| 23 | cilium or flagellum-dependent cell motility (GO:0001539) | 3.65404784 |
| 24 | cellular response to ATP (GO:0071318) | 3.58873846 |
| 25 | epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287) | 3.57733694 |
| 26 | DNA deamination (GO:0045006) | 3.51913926 |
| 27 | single strand break repair (GO:0000012) | 3.46534612 |
| 28 | epithelial cilium movement (GO:0003351) | 3.45348371 |
| 29 | establishment of protein localization to Golgi (GO:0072600) | 3.33220303 |
| 30 | piRNA metabolic process (GO:0034587) | 3.30905697 |
| 31 | protein localization to Golgi apparatus (GO:0034067) | 3.29139340 |
| 32 | indolalkylamine metabolic process (GO:0006586) | 3.27457563 |
| 33 | nonmotile primary cilium assembly (GO:0035058) | 3.23811856 |
| 34 | motile cilium assembly (GO:0044458) | 3.23072075 |
| 35 | tryptophan catabolic process (GO:0006569) | 3.21199825 |
| 36 | indole-containing compound catabolic process (GO:0042436) | 3.21199825 |
| 37 | indolalkylamine catabolic process (GO:0046218) | 3.21199825 |
| 38 | spinal cord motor neuron differentiation (GO:0021522) | 3.19382926 |
| 39 | protein targeting to Golgi (GO:0000042) | 3.14791376 |
| 40 | DNA strand renaturation (GO:0000733) | 3.12241582 |
| 41 | fusion of sperm to egg plasma membrane (GO:0007342) | 3.11492147 |
| 42 | sperm-egg recognition (GO:0035036) | 3.08091899 |
| 43 | axonemal dynein complex assembly (GO:0070286) | 3.07319882 |
| 44 | phosphatidylethanolamine biosynthetic process (GO:0006646) | 3.06857388 |
| 45 | microtubule polymerization or depolymerization (GO:0031109) | 3.06156951 |
| 46 | organic cation transport (GO:0015695) | 3.03531768 |
| 47 | centriole replication (GO:0007099) | 3.02047515 |
| 48 | tryptophan metabolic process (GO:0006568) | 2.99830948 |
| 49 | coenzyme catabolic process (GO:0009109) | 2.98308912 |
| 50 | reproduction (GO:0000003) | 2.97958179 |
| 51 | axoneme assembly (GO:0035082) | 2.97901939 |
| 52 | tRNA modification (GO:0006400) | 2.97334852 |
| 53 | cornea development in camera-type eye (GO:0061303) | 2.94651257 |
| 54 | male meiosis I (GO:0007141) | 2.92262356 |
| 55 | calcium ion-dependent exocytosis (GO:0017156) | 2.91783327 |
| 56 | preassembly of GPI anchor in ER membrane (GO:0016254) | 2.91325154 |
| 57 | phosphatidylethanolamine metabolic process (GO:0046337) | 2.91142527 |
| 58 | cilium movement (GO:0003341) | 2.88030402 |
| 59 | neuronal action potential (GO:0019228) | 2.88008343 |
| 60 | regulation of action potential (GO:0098900) | 2.87180207 |
| 61 | microtubule severing (GO:0051013) | 2.86846326 |
| 62 | RNA destabilization (GO:0050779) | 2.86061061 |
| 63 | retrograde transport, vesicle recycling within Golgi (GO:0000301) | 2.84580910 |
| 64 | regulation of microtubule-based movement (GO:0060632) | 2.82458006 |
| 65 | mitochondrial respiratory chain complex I biogenesis (GO:0097031) | 2.80788216 |
| 66 | mitochondrial respiratory chain complex I assembly (GO:0032981) | 2.80788216 |
| 67 | NADH dehydrogenase complex assembly (GO:0010257) | 2.80788216 |
| 68 | primary amino compound metabolic process (GO:1901160) | 2.80474539 |
| 69 | reciprocal meiotic recombination (GO:0007131) | 2.80381733 |
| 70 | reciprocal DNA recombination (GO:0035825) | 2.80381733 |
| 71 | sperm capacitation (GO:0048240) | 2.77333678 |
| 72 | kynurenine metabolic process (GO:0070189) | 2.76424893 |
| 73 | renal tubule morphogenesis (GO:0061333) | 2.75356653 |
| 74 | protein K11-linked deubiquitination (GO:0035871) | 2.74719386 |
| 75 | cilium organization (GO:0044782) | 2.74469899 |
| 76 | protein complex biogenesis (GO:0070271) | 2.72426887 |
| 77 | mannosylation (GO:0097502) | 2.69502431 |
| 78 | detection of mechanical stimulus involved in sensory perception of sound (GO:0050910) | 2.69410755 |
| 79 | urinary tract smooth muscle contraction (GO:0014848) | 2.69005665 |
| 80 | male gamete generation (GO:0048232) | 2.68901415 |
| 81 | spermatogenesis (GO:0007283) | 2.68665856 |
| 82 | seminiferous tubule development (GO:0072520) | 2.68573471 |
| 83 | basic amino acid transport (GO:0015802) | 2.67913565 |
| 84 | DNA methylation involved in gamete generation (GO:0043046) | 2.65568875 |
| 85 | cilium assembly (GO:0042384) | 2.65359918 |
| 86 | photoreceptor cell development (GO:0042461) | 2.65251189 |
| 87 | centriole assembly (GO:0098534) | 2.64781907 |
| 88 | pseudouridine synthesis (GO:0001522) | 2.61366667 |
| 89 | regulation of centriole replication (GO:0046599) | 2.61334433 |
| 90 | protein-cofactor linkage (GO:0018065) | 2.58450329 |
| 91 | nucleotide transmembrane transport (GO:1901679) | 2.57479925 |
| 92 | respiratory chain complex IV assembly (GO:0008535) | 2.57172561 |
| 93 | negative regulation of cell aging (GO:0090344) | 2.56913416 |
| 94 | mitochondrial respiratory chain complex assembly (GO:0033108) | 2.56066734 |
| 95 | cellular biogenic amine catabolic process (GO:0042402) | 2.54648998 |
| 96 | amine catabolic process (GO:0009310) | 2.54648998 |
| 97 | cell-cell recognition (GO:0009988) | 2.54393192 |
| 98 | sulfation (GO:0051923) | 2.53885952 |
| 99 | regulation of nuclear cell cycle DNA replication (GO:0033262) | 2.53620966 |
| 100 | positive regulation of mitochondrial fission (GO:0090141) | 2.51785004 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | ZNF274_21170338_ChIP-Seq_K562_Hela | 3.45110595 |
| 2 | FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse | 3.39894693 |
| 3 | VDR_22108803_ChIP-Seq_LS180_Human | 3.16020301 |
| 4 | MYCN_21190229_ChIP-Seq_SHEP-21N_Human | 2.52556179 |
| 5 | GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 2.42906275 |
| 6 | E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse | 2.28973102 |
| 7 | EZH2_22144423_ChIP-Seq_EOC_Human | 2.18060915 |
| 8 | EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human | 2.15350512 |
| 9 | FUS_26573619_Chip-Seq_HEK293_Human | 2.10684725 |
| 10 | NR4A2_19515692_ChIP-ChIP_MN9D_Mouse | 2.04872147 |
| 11 | HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human | 2.04441300 |
| 12 | GBX2_23144817_ChIP-Seq_PC3_Human | 2.04097463 |
| 13 | CTBP2_25329375_ChIP-Seq_LNCAP_Human | 1.98742344 |
| 14 | CTBP1_25329375_ChIP-Seq_LNCAP_Human | 1.96418089 |
| 15 | ERA_21632823_ChIP-Seq_H3396_Human | 1.89204296 |
| 16 | TP53_22573176_ChIP-Seq_HFKS_Human | 1.77559614 |
| 17 | POU5F1_26923725_Chip-Seq_MESODERM_Mouse | 1.71139683 |
| 18 | TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse | 1.71139683 |
| 19 | EWS_26573619_Chip-Seq_HEK293_Human | 1.70959866 |
| 20 | GATA3_21878914_ChIP-Seq_MCF-7_Human | 1.70356268 |
| 21 | IRF4_20064451_ChIP-Seq_CD4+T_Mouse | 1.68504141 |
| 22 | CBP_20019798_ChIP-Seq_JUKART_Human | 1.68504141 |
| 23 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 1.60837721 |
| 24 | TAF2_19829295_ChIP-Seq_ESCs_Human | 1.60015668 |
| 25 | ER_23166858_ChIP-Seq_MCF-7_Human | 1.57608629 |
| 26 | NOTCH1_21737748_ChIP-Seq_TLL_Human | 1.57442567 |
| 27 | BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse | 1.55597551 |
| 28 | CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human | 1.55445690 |
| 29 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.50893547 |
| 30 | P300_19829295_ChIP-Seq_ESCs_Human | 1.50481228 |
| 31 | NANOG_20526341_ChIP-Seq_ESCs_Human | 1.50348089 |
| 32 | GLI1_17442700_ChIP-ChIP_MESCs_Mouse | 1.49094775 |
| 33 | MYC_19829295_ChIP-Seq_ESCs_Human | 1.48166683 |
| 34 | P53_21459846_ChIP-Seq_SAOS-2_Human | 1.47757811 |
| 35 | TAF15_26573619_Chip-Seq_HEK293_Human | 1.47600801 |
| 36 | ETV2_25802403_ChIP-Seq_MESCs_Mouse | 1.44228681 |
| 37 | POU3F2_20337985_ChIP-ChIP_501MEL_Human | 1.42971400 |
| 38 | E2F1_20622854_ChIP-Seq_HELA_Human | 1.42919620 |
| 39 | TP63_19390658_ChIP-ChIP_HaCaT_Human | 1.41216655 |
| 40 | NCOR_22424771_ChIP-Seq_293T_Human | 1.40610863 |
| 41 | * OCT4_20526341_ChIP-Seq_ESCs_Human | 1.38987837 |
| 42 | RAC3_21632823_ChIP-Seq_H3396_Human | 1.37074632 |
| 43 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 1.36689657 |
| 44 | REST_21632747_ChIP-Seq_MESCs_Mouse | 1.36125231 |
| 45 | UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human | 1.35404348 |
| 46 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 1.34943508 |
| 47 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 1.34599892 |
| 48 | PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse | 1.32318521 |
| 49 | GABP_17652178_ChIP-ChIP_JURKAT_Human | 1.30842982 |
| 50 | FOXA1_27270436_Chip-Seq_PROSTATE_Human | 1.30548736 |
| 51 | FOXA1_25329375_ChIP-Seq_VCAP_Human | 1.30548736 |
| 52 | EBNA1_20929547_Chip-Seq_RAJI-cells_Human | 1.29986883 |
| 53 | BMI1_23680149_ChIP-Seq_NPCS_Mouse | 1.29555691 |
| 54 | BCAT_22108803_ChIP-Seq_LS180_Human | 1.27649338 |
| 55 | IGF1R_20145208_ChIP-Seq_DFB_Human | 1.26010511 |
| 56 | SOX9_22984422_ChIP-ChIP_TESTIS_Rat | 1.24453358 |
| 57 | STAT3_23295773_ChIP-Seq_U87_Human | 1.23425101 |
| 58 | MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human | 1.22893522 |
| 59 | FLI1_27457419_Chip-Seq_LIVER_Mouse | 1.22558566 |
| 60 | PHF8_20622854_ChIP-Seq_HELA_Human | 1.22186452 |
| 61 | MYC_18940864_ChIP-ChIP_HL60_Human | 1.21529376 |
| 62 | IRF1_19129219_ChIP-ChIP_H3396_Human | 1.18853645 |
| 63 | AR_25329375_ChIP-Seq_VCAP_Human | 1.18756979 |
| 64 | TDRD3_21172665_ChIP-Seq_MCF-7_Human | 1.18747701 |
| 65 | EGR1_23403033_ChIP-Seq_LIVER_Mouse | 1.18331938 |
| 66 | SMAD4_21741376_ChIP-Seq_EPCs_Human | 1.18128140 |
| 67 | HOXB7_26014856_ChIP-Seq_BT474_Human | 1.17514405 |
| 68 | SOX2_19829295_ChIP-Seq_ESCs_Human | 1.17418503 |
| 69 | NANOG_19829295_ChIP-Seq_ESCs_Human | 1.17418503 |
| 70 | IKZF1_21737484_ChIP-ChIP_HCT116_Human | 1.17146467 |
| 71 | DROSHA_22980978_ChIP-Seq_HELA_Human | 1.13896174 |
| 72 | BCL6_27268052_Chip-Seq_Bcells_Human | 1.13851856 |
| 73 | VDR_23849224_ChIP-Seq_CD4+_Human | 1.13837323 |
| 74 | SMAD2/3_21741376_ChIP-Seq_EPCs_Human | 1.13532293 |
| 75 | CBX2_27304074_Chip-Seq_ESCs_Mouse | 1.12929597 |
| 76 | KLF5_20875108_ChIP-Seq_MESCs_Mouse | 1.10683177 |
| 77 | JARID1A_20064375_ChIP-Seq_MESCs_Mouse | 1.10402880 |
| 78 | EZH2_27294783_Chip-Seq_ESCs_Mouse | 1.10283938 |
| 79 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.10217336 |
| 80 | SALL1_21062744_ChIP-ChIP_HESCs_Human | 1.08596976 |
| 81 | TCF4_23295773_ChIP-Seq_U87_Human | 1.08348755 |
| 82 | AR_20517297_ChIP-Seq_VCAP_Human | 1.06547638 |
| 83 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 1.05785875 |
| 84 | FOXH1_21741376_ChIP-Seq_ESCs_Human | 1.05039589 |
| 85 | EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human | 1.05025731 |
| 86 | REST_18959480_ChIP-ChIP_MESCs_Mouse | 1.04194231 |
| 87 | PBX1_22567123_ChIP-ChIP_OVCAR3_Human | 1.03910878 |
| 88 | ZFP322A_24550733_ChIP-Seq_MESCs_Mouse | 1.03502461 |
| 89 | PCGF2_27294783_Chip-Seq_ESCs_Mouse | 1.03196349 |
| 90 | GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse | 1.02387171 |
| 91 | SMAD4_21799915_ChIP-Seq_A2780_Human | 1.02354640 |
| 92 | SMAD3_21741376_ChIP-Seq_EPCs_Human | 1.02332742 |
| 93 | CTCF_20526341_ChIP-Seq_ESCs_Human | 1.01555971 |
| 94 | RUNX2_22187159_ChIP-Seq_PCA_Human | 1.01093851 |
| 95 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.00695559 |
| 96 | AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human | 0.99430145 |
| 97 | FOXA1_21572438_ChIP-Seq_LNCaP_Human | 0.98835902 |
| 98 | P68_20966046_ChIP-Seq_HELA_Human | 0.97801796 |
| 99 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.97647746 |
| 100 | FOXH1_21741376_ChIP-Seq_EPCs_Human | 0.96909190 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005410_abnormal_fertilization | 3.65285397 |
| 2 | MP0005174_abnormal_tail_pigmentation | 3.21018758 |
| 3 | MP0001986_abnormal_taste_sensitivity | 3.18131927 |
| 4 | MP0003136_yellow_coat_color | 2.94801305 |
| 5 | MP0005423_abnormal_somatic_nervous | 2.92926544 |
| 6 | MP0000569_abnormal_digit_pigmentation | 2.91318186 |
| 7 | MP0001968_abnormal_touch/_nociception | 2.77700838 |
| 8 | MP0005551_abnormal_eye_electrophysiolog | 2.71107399 |
| 9 | MP0006292_abnormal_olfactory_placode | 2.48685389 |
| 10 | MP0008877_abnormal_DNA_methylation | 2.41512370 |
| 11 | MP0005377_hearing/vestibular/ear_phenot | 2.41182518 |
| 12 | MP0003878_abnormal_ear_physiology | 2.41182518 |
| 13 | MP0005171_absent_coat_pigmentation | 2.33556026 |
| 14 | MP0002736_abnormal_nociception_after | 2.12413034 |
| 15 | MP0002837_dystrophic_cardiac_calcinosis | 2.06176468 |
| 16 | MP0002653_abnormal_ependyma_morphology | 1.93169925 |
| 17 | MP0002876_abnormal_thyroid_physiology | 1.87894052 |
| 18 | MP0002638_abnormal_pupillary_reflex | 1.83354832 |
| 19 | MP0005645_abnormal_hypothalamus_physiol | 1.82261125 |
| 20 | MP0003195_calcinosis | 1.76541105 |
| 21 | MP0003698_abnormal_male_reproductive | 1.75045960 |
| 22 | MP0003718_maternal_effect | 1.71668762 |
| 23 | MP0002102_abnormal_ear_morphology | 1.69849582 |
| 24 | MP0005253_abnormal_eye_physiology | 1.67470166 |
| 25 | MP0003646_muscle_fatigue | 1.60505479 |
| 26 | MP0005083_abnormal_biliary_tract | 1.60419930 |
| 27 | MP0008875_abnormal_xenobiotic_pharmacok | 1.59363685 |
| 28 | MP0001929_abnormal_gametogenesis | 1.59310088 |
| 29 | MP0005360_urolithiasis | 1.58375593 |
| 30 | MP0006072_abnormal_retinal_apoptosis | 1.49197931 |
| 31 | MP0001984_abnormal_olfaction | 1.45406655 |
| 32 | MP0003011_delayed_dark_adaptation | 1.43912024 |
| 33 | MP0000015_abnormal_ear_pigmentation | 1.42280134 |
| 34 | MP0001485_abnormal_pinna_reflex | 1.40115446 |
| 35 | MP0005379_endocrine/exocrine_gland_phen | 1.39375939 |
| 36 | MP0002928_abnormal_bile_duct | 1.38133017 |
| 37 | MP0000427_abnormal_hair_cycle | 1.35633698 |
| 38 | MP0009745_abnormal_behavioral_response | 1.35255843 |
| 39 | MP0006276_abnormal_autonomic_nervous | 1.34828635 |
| 40 | MP0002138_abnormal_hepatobiliary_system | 1.33926362 |
| 41 | MP0004043_abnormal_pH_regulation | 1.32429472 |
| 42 | MP0002160_abnormal_reproductive_system | 1.31944288 |
| 43 | MP0003787_abnormal_imprinting | 1.31575327 |
| 44 | MP0001486_abnormal_startle_reflex | 1.30754776 |
| 45 | MP0002272_abnormal_nervous_system | 1.29934079 |
| 46 | MP0005084_abnormal_gallbladder_morpholo | 1.25696369 |
| 47 | MP0004142_abnormal_muscle_tone | 1.25273981 |
| 48 | MP0002735_abnormal_chemical_nociception | 1.22626616 |
| 49 | MP0001970_abnormal_pain_threshold | 1.21771792 |
| 50 | MP0001529_abnormal_vocalization | 1.20381843 |
| 51 | MP0004885_abnormal_endolymph | 1.19776521 |
| 52 | MP0002938_white_spotting | 1.19472726 |
| 53 | MP0002572_abnormal_emotion/affect_behav | 1.19064074 |
| 54 | MP0000631_abnormal_neuroendocrine_gland | 1.18726076 |
| 55 | MP0004742_abnormal_vestibular_system | 1.18122819 |
| 56 | MP0005646_abnormal_pituitary_gland | 1.16143261 |
| 57 | MP0009046_muscle_twitch | 1.15832158 |
| 58 | MP0005670_abnormal_white_adipose | 1.15676127 |
| 59 | MP0001502_abnormal_circadian_rhythm | 1.13296297 |
| 60 | MP0001905_abnormal_dopamine_level | 1.12988890 |
| 61 | MP0005332_abnormal_amino_acid | 1.12073106 |
| 62 | MP0002210_abnormal_sex_determination | 1.11804772 |
| 63 | MP0002557_abnormal_social/conspecific_i | 1.09162199 |
| 64 | MP0001188_hyperpigmentation | 1.06000747 |
| 65 | MP0008789_abnormal_olfactory_epithelium | 1.05853221 |
| 66 | MP0008872_abnormal_physiological_respon | 1.05608674 |
| 67 | MP0005389_reproductive_system_phenotype | 1.05114582 |
| 68 | MP0001919_abnormal_reproductive_system | 1.04823790 |
| 69 | MP0002733_abnormal_thermal_nociception | 1.04594909 |
| 70 | MP0005386_behavior/neurological_phenoty | 1.02867795 |
| 71 | MP0004924_abnormal_behavior | 1.02867795 |
| 72 | MP0003137_abnormal_impulse_conducting | 1.02847650 |
| 73 | MP0002909_abnormal_adrenal_gland | 1.02426304 |
| 74 | MP0010386_abnormal_urinary_bladder | 1.02097412 |
| 75 | MP0004133_heterotaxia | 1.01530578 |
| 76 | MP0000026_abnormal_inner_ear | 1.01411438 |
| 77 | MP0004147_increased_porphyrin_level | 1.00865342 |
| 78 | MP0002095_abnormal_skin_pigmentation | 0.98172826 |
| 79 | MP0008995_early_reproductive_senescence | 0.96401575 |
| 80 | MP0001501_abnormal_sleep_pattern | 0.95589183 |
| 81 | MP0000372_irregular_coat_pigmentation | 0.93596359 |
| 82 | MP0005195_abnormal_posterior_eye | 0.93015636 |
| 83 | MP0001963_abnormal_hearing_physiology | 0.92257752 |
| 84 | MP0000538_abnormal_urinary_bladder | 0.90577243 |
| 85 | MP0001324_abnormal_eye_pigmentation | 0.90431109 |
| 86 | MP0002163_abnormal_gland_morphology | 0.87846471 |
| 87 | MP0002067_abnormal_sensory_capabilities | 0.87005128 |
| 88 | MP0001756_abnormal_urination | 0.86551660 |
| 89 | MP0000653_abnormal_sex_gland | 0.85502107 |
| 90 | MP0001145_abnormal_male_reproductive | 0.85050500 |
| 91 | MP0002229_neurodegeneration | 0.82049924 |
| 92 | MP0001765_abnormal_ion_homeostasis | 0.81249555 |
| 93 | MP0002161_abnormal_fertility/fecundity | 0.80876887 |
| 94 | MP0002064_seizures | 0.79789792 |
| 95 | MP0003635_abnormal_synaptic_transmissio | 0.77144542 |
| 96 | MP0002234_abnormal_pharynx_morphology | 0.76829504 |
| 97 | MP0004085_abnormal_heartbeat | 0.76826944 |
| 98 | MP0002063_abnormal_learning/memory/cond | 0.76761270 |
| 99 | MP0004215_abnormal_myocardial_fiber | 0.76621610 |
| 100 | MP0002254_reproductive_system_inflammat | 0.74571564 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Attenuation of retinal blood vessels (HP:0007843) | 5.15088924 |
| 2 | Congenital stationary night blindness (HP:0007642) | 4.63387806 |
| 3 | Bony spicule pigmentary retinopathy (HP:0007737) | 4.10156836 |
| 4 | Nephronophthisis (HP:0000090) | 3.97239644 |
| 5 | Dynein arm defect of respiratory motile cilia (HP:0012255) | 3.90279836 |
| 6 | Absent/shortened dynein arms (HP:0200106) | 3.90279836 |
| 7 | Abnormality of midbrain morphology (HP:0002418) | 3.64072661 |
| 8 | Molar tooth sign on MRI (HP:0002419) | 3.64072661 |
| 9 | Abnormal drinking behavior (HP:0030082) | 3.58174699 |
| 10 | Polydipsia (HP:0001959) | 3.58174699 |
| 11 | Pancreatic cysts (HP:0001737) | 3.51423088 |
| 12 | Tubular atrophy (HP:0000092) | 3.39156476 |
| 13 | Abnormality of the renal medulla (HP:0100957) | 3.31438887 |
| 14 | Chronic hepatic failure (HP:0100626) | 3.27187335 |
| 15 | Pancreatic fibrosis (HP:0100732) | 3.19704624 |
| 16 | Abnormal rod and cone electroretinograms (HP:0008323) | 3.18378342 |
| 17 | Decreased central vision (HP:0007663) | 2.99596979 |
| 18 | Pendular nystagmus (HP:0012043) | 2.97399121 |
| 19 | Hypoplasia of the pons (HP:0012110) | 2.96685504 |
| 20 | Polyuria (HP:0000103) | 2.90110391 |
| 21 | Abnormality of pyruvate family amino acid metabolism (HP:0010915) | 2.87759562 |
| 22 | Abnormality of alanine metabolism (HP:0010916) | 2.87759562 |
| 23 | Hyperalaninemia (HP:0003348) | 2.87759562 |
| 24 | Abnormality of the renal cortex (HP:0011035) | 2.85459288 |
| 25 | Rib fusion (HP:0000902) | 2.84143027 |
| 26 | True hermaphroditism (HP:0010459) | 2.74103504 |
| 27 | Abnormality of the pons (HP:0007361) | 2.73902884 |
| 28 | Medial flaring of the eyebrow (HP:0010747) | 2.72591583 |
| 29 | Decreased electroretinogram (ERG) amplitude (HP:0000654) | 2.72571720 |
| 30 | Severe visual impairment (HP:0001141) | 2.62773292 |
| 31 | Abnormal respiratory motile cilium morphology (HP:0005938) | 2.61753868 |
| 32 | Abnormal respiratory epithelium morphology (HP:0012253) | 2.61753868 |
| 33 | Abnormal ciliary motility (HP:0012262) | 2.58599665 |
| 34 | Chorioretinal atrophy (HP:0000533) | 2.57877406 |
| 35 | Cerebellar dysplasia (HP:0007033) | 2.57750976 |
| 36 | Type II lissencephaly (HP:0007260) | 2.55515174 |
| 37 | Decreased circulating renin level (HP:0003351) | 2.55197503 |
| 38 | Hyperventilation (HP:0002883) | 2.53253415 |
| 39 | Abnormal urine output (HP:0012590) | 2.51598369 |
| 40 | Abolished electroretinogram (ERG) (HP:0000550) | 2.31897649 |
| 41 | Aplasia/Hypoplasia of the patella (HP:0006498) | 2.31299327 |
| 42 | Patellar aplasia (HP:0006443) | 2.31033083 |
| 43 | Hypoalbuminemia (HP:0003073) | 2.24408168 |
| 44 | Abnormal albumin level (HP:0012116) | 2.24408168 |
| 45 | Abnormality of renal excretion (HP:0011036) | 2.18593179 |
| 46 | Absent thumb (HP:0009777) | 2.17350553 |
| 47 | Cystic liver disease (HP:0006706) | 2.16715084 |
| 48 | Abnormal respiratory motile cilium physiology (HP:0012261) | 2.11803555 |
| 49 | Congenital hepatic fibrosis (HP:0002612) | 2.06805232 |
| 50 | Progressive cerebellar ataxia (HP:0002073) | 2.04018103 |
| 51 | Gait imbalance (HP:0002141) | 2.00989309 |
| 52 | Gaze-evoked nystagmus (HP:0000640) | 1.97428049 |
| 53 | Abnormality of macular pigmentation (HP:0008002) | 1.93388665 |
| 54 | Increased CSF lactate (HP:0002490) | 1.92414297 |
| 55 | Methylmalonic aciduria (HP:0012120) | 1.92094632 |
| 56 | Congenital primary aphakia (HP:0007707) | 1.91412625 |
| 57 | Tachypnea (HP:0002789) | 1.88730582 |
| 58 | Enlarged epiphyses (HP:0010580) | 1.87703378 |
| 59 | Generalized aminoaciduria (HP:0002909) | 1.87431294 |
| 60 | Severe muscular hypotonia (HP:0006829) | 1.86991129 |
| 61 | Abnormality of the labia minora (HP:0012880) | 1.85068847 |
| 62 | Ketosis (HP:0001946) | 1.84232847 |
| 63 | Ketoacidosis (HP:0001993) | 1.82990693 |
| 64 | Rectal fistula (HP:0100590) | 1.81729959 |
| 65 | Rectovaginal fistula (HP:0000143) | 1.81729959 |
| 66 | Tubulointerstitial nephritis (HP:0001970) | 1.81192593 |
| 67 | Optic disc pallor (HP:0000543) | 1.80174340 |
| 68 | Abnormality of dental color (HP:0011073) | 1.77476250 |
| 69 | Mitochondrial inheritance (HP:0001427) | 1.77318530 |
| 70 | Lipid accumulation in hepatocytes (HP:0006561) | 1.76274467 |
| 71 | Inability to walk (HP:0002540) | 1.76143600 |
| 72 | Nephrogenic diabetes insipidus (HP:0009806) | 1.76072087 |
| 73 | Congenital sensorineural hearing impairment (HP:0008527) | 1.73171769 |
| 74 | Methylmalonic acidemia (HP:0002912) | 1.72943517 |
| 75 | Small hand (HP:0200055) | 1.71418805 |
| 76 | Progressive microcephaly (HP:0000253) | 1.70765227 |
| 77 | Anencephaly (HP:0002323) | 1.69288971 |
| 78 | Testicular atrophy (HP:0000029) | 1.67492990 |
| 79 | Azoospermia (HP:0000027) | 1.66382907 |
| 80 | Sclerocornea (HP:0000647) | 1.66381218 |
| 81 | Birth length less than 3rd percentile (HP:0003561) | 1.64935862 |
| 82 | Photophobia (HP:0000613) | 1.64779533 |
| 83 | Bilateral microphthalmos (HP:0007633) | 1.64057793 |
| 84 | Hepatic necrosis (HP:0002605) | 1.63122279 |
| 85 | Genital tract atresia (HP:0001827) | 1.62872632 |
| 86 | Failure to thrive in infancy (HP:0001531) | 1.62284847 |
| 87 | Renal cortical cysts (HP:0000803) | 1.61985845 |
| 88 | Mesangial abnormality (HP:0001966) | 1.61783644 |
| 89 | Neonatal respiratory distress (HP:0002643) | 1.61697283 |
| 90 | Glycosuria (HP:0003076) | 1.61016525 |
| 91 | Abnormality of urine glucose concentration (HP:0011016) | 1.61016525 |
| 92 | Protruding tongue (HP:0010808) | 1.60943656 |
| 93 | Keratoconus (HP:0000563) | 1.60244178 |
| 94 | Increased corneal curvature (HP:0100692) | 1.60244178 |
| 95 | Optic nerve hypoplasia (HP:0000609) | 1.59341243 |
| 96 | Abnormality of the nasal septum (HP:0000419) | 1.59051146 |
| 97 | Hepatocellular necrosis (HP:0001404) | 1.58196388 |
| 98 | Male pseudohermaphroditism (HP:0000037) | 1.57853740 |
| 99 | Squamous cell carcinoma (HP:0002860) | 1.57772002 |
| 100 | Vaginal atresia (HP:0000148) | 1.57219800 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | FRK | 4.73665761 |
| 2 | WNK4 | 3.60897233 |
| 3 | TLK1 | 3.58125673 |
| 4 | ZAK | 3.56544672 |
| 5 | ADRBK2 | 3.22253322 |
| 6 | PLK4 | 2.87879427 |
| 7 | MAPK15 | 2.84410413 |
| 8 | MAP4K2 | 2.58772973 |
| 9 | BMPR1B | 2.49533834 |
| 10 | GRK1 | 2.29659962 |
| 11 | INSRR | 2.28336268 |
| 12 | WNK3 | 1.93397759 |
| 13 | PINK1 | 1.84976372 |
| 14 | DAPK2 | 1.80665928 |
| 15 | MAPK13 | 1.76952382 |
| 16 | MAP3K4 | 1.70810482 |
| 17 | TRIM28 | 1.70569023 |
| 18 | NUAK1 | 1.67703794 |
| 19 | STK39 | 1.41346227 |
| 20 | TNIK | 1.40018165 |
| 21 | PDK2 | 1.38462491 |
| 22 | ACVR1B | 1.33466304 |
| 23 | MUSK | 1.28350651 |
| 24 | OXSR1 | 1.27553974 |
| 25 | CAMK1D | 1.22772028 |
| 26 | CASK | 1.22225512 |
| 27 | PNCK | 1.20426181 |
| 28 | BLK | 1.12136654 |
| 29 | MAP2K7 | 1.11640248 |
| 30 | PLK2 | 1.09840250 |
| 31 | CAMK1G | 1.04081991 |
| 32 | ADRBK1 | 1.03385382 |
| 33 | TAOK3 | 1.01547703 |
| 34 | VRK1 | 0.98708397 |
| 35 | STK16 | 0.96995931 |
| 36 | PHKG2 | 0.96474693 |
| 37 | PHKG1 | 0.96474693 |
| 38 | MARK1 | 0.96046897 |
| 39 | AKT3 | 0.91980236 |
| 40 | PTK2B | 0.91916497 |
| 41 | PRKCG | 0.91150976 |
| 42 | MAP2K6 | 0.89734295 |
| 43 | MKNK2 | 0.89408043 |
| 44 | PKN1 | 0.89095729 |
| 45 | DYRK2 | 0.86869629 |
| 46 | PRKD3 | 0.79055641 |
| 47 | CAMKK2 | 0.78061846 |
| 48 | RPS6KA5 | 0.77694605 |
| 49 | TXK | 0.74968614 |
| 50 | WNK1 | 0.73266614 |
| 51 | PAK3 | 0.71480076 |
| 52 | CAMK1 | 0.70756085 |
| 53 | MAP2K2 | 0.70258558 |
| 54 | FGFR2 | 0.67245577 |
| 55 | CCNB1 | 0.65329359 |
| 56 | SIK2 | 0.64683592 |
| 57 | TIE1 | 0.64381859 |
| 58 | PRKCE | 0.63348792 |
| 59 | PRKAA1 | 0.61383634 |
| 60 | CSNK1G3 | 0.58206160 |
| 61 | PRKAA2 | 0.57700486 |
| 62 | IKBKB | 0.56570030 |
| 63 | STK38L | 0.55345904 |
| 64 | CSNK1G2 | 0.55265897 |
| 65 | ATR | 0.53599942 |
| 66 | PIK3CA | 0.53309565 |
| 67 | TAF1 | 0.53137022 |
| 68 | CHEK2 | 0.52918319 |
| 69 | NME1 | 0.52742832 |
| 70 | RPS6KA6 | 0.50683836 |
| 71 | CSNK1G1 | 0.49341130 |
| 72 | CSNK1A1L | 0.47815613 |
| 73 | PRKCZ | 0.47782384 |
| 74 | PRKACA | 0.47334520 |
| 75 | STK11 | 0.45937861 |
| 76 | CSNK1D | 0.45439203 |
| 77 | TGFBR1 | 0.45308805 |
| 78 | BRSK2 | 0.44384268 |
| 79 | STK38 | 0.43571649 |
| 80 | IRAK1 | 0.43144847 |
| 81 | CAMK4 | 0.42297318 |
| 82 | GRK6 | 0.39891777 |
| 83 | PRKCI | 0.39725180 |
| 84 | CAMK2A | 0.39485182 |
| 85 | NEK2 | 0.38509106 |
| 86 | PLK1 | 0.37593302 |
| 87 | PRKG1 | 0.36455727 |
| 88 | NTRK3 | 0.36287834 |
| 89 | MAP2K4 | 0.36134649 |
| 90 | CDK3 | 0.35158610 |
| 91 | EPHA3 | 0.35031735 |
| 92 | MAPKAPK5 | 0.34725186 |
| 93 | PIM2 | 0.34002013 |
| 94 | PIK3CG | 0.33541084 |
| 95 | TSSK6 | 0.33370942 |
| 96 | NTRK2 | 0.32363365 |
| 97 | FLT3 | 0.31610597 |
| 98 | CHUK | 0.29722864 |
| 99 | BCKDK | 0.29212570 |
| 100 | PRKCQ | 0.28760373 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604 | 3.11799260 |
| 2 | Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072 | 3.07541203 |
| 3 | Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130 | 3.01520962 |
| 4 | Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603 | 2.99722798 |
| 5 | Sulfur relay system_Homo sapiens_hsa04122 | 2.79899746 |
| 6 | Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563 | 2.56645803 |
| 7 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 2.39963244 |
| 8 | Butanoate metabolism_Homo sapiens_hsa00650 | 2.33982373 |
| 9 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 2.33482400 |
| 10 | Phototransduction_Homo sapiens_hsa04744 | 2.33294134 |
| 11 | Maturity onset diabetes of the young_Homo sapiens_hsa04950 | 2.27912182 |
| 12 | Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080 | 2.12215999 |
| 13 | Nitrogen metabolism_Homo sapiens_hsa00910 | 2.04787872 |
| 14 | Oxidative phosphorylation_Homo sapiens_hsa00190 | 1.99617476 |
| 15 | Nicotine addiction_Homo sapiens_hsa05033 | 1.92153266 |
| 16 | Fanconi anemia pathway_Homo sapiens_hsa03460 | 1.91628425 |
| 17 | Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533 | 1.86901003 |
| 18 | Olfactory transduction_Homo sapiens_hsa04740 | 1.81317573 |
| 19 | Taste transduction_Homo sapiens_hsa04742 | 1.79367943 |
| 20 | Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601 | 1.73024670 |
| 21 | Homologous recombination_Homo sapiens_hsa03440 | 1.69634821 |
| 22 | Ether lipid metabolism_Homo sapiens_hsa00565 | 1.62231760 |
| 23 | Basal transcription factors_Homo sapiens_hsa03022 | 1.58312500 |
| 24 | Tryptophan metabolism_Homo sapiens_hsa00380 | 1.53497592 |
| 25 | Parkinsons disease_Homo sapiens_hsa05012 | 1.47107604 |
| 26 | Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280 | 1.42709165 |
| 27 | Selenocompound metabolism_Homo sapiens_hsa00450 | 1.42130656 |
| 28 | RNA polymerase_Homo sapiens_hsa03020 | 1.29481841 |
| 29 | Ascorbate and aldarate metabolism_Homo sapiens_hsa00053 | 1.22519176 |
| 30 | Cardiac muscle contraction_Homo sapiens_hsa04260 | 1.19053233 |
| 31 | Taurine and hypotaurine metabolism_Homo sapiens_hsa00430 | 1.18372004 |
| 32 | Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008 | 1.14894550 |
| 33 | Fatty acid biosynthesis_Homo sapiens_hsa00061 | 1.13591710 |
| 34 | Propanoate metabolism_Homo sapiens_hsa00640 | 1.13473744 |
| 35 | Huntingtons disease_Homo sapiens_hsa05016 | 1.13264078 |
| 36 | Terpenoid backbone biosynthesis_Homo sapiens_hsa00900 | 1.11638328 |
| 37 | ABC transporters_Homo sapiens_hsa02010 | 1.07769094 |
| 38 | Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512 | 1.06308344 |
| 39 | Insulin secretion_Homo sapiens_hsa04911 | 1.01320142 |
| 40 | Morphine addiction_Homo sapiens_hsa05032 | 1.00741250 |
| 41 | Chemical carcinogenesis_Homo sapiens_hsa05204 | 0.99785752 |
| 42 | Peroxisome_Homo sapiens_hsa04146 | 0.97165373 |
| 43 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.95124937 |
| 44 | One carbon pool by folate_Homo sapiens_hsa00670 | 0.91770474 |
| 45 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.91335275 |
| 46 | Drug metabolism - cytochrome P450_Homo sapiens_hsa00982 | 0.89082275 |
| 47 | Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932 | 0.88051545 |
| 48 | RNA degradation_Homo sapiens_hsa03018 | 0.85638826 |
| 49 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 0.85531180 |
| 50 | Alzheimers disease_Homo sapiens_hsa05010 | 0.85089793 |
| 51 | Sulfur metabolism_Homo sapiens_hsa00920 | 0.84250229 |
| 52 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 0.84055733 |
| 53 | Retinol metabolism_Homo sapiens_hsa00830 | 0.83983382 |
| 54 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.83315239 |
| 55 | Mineral absorption_Homo sapiens_hsa04978 | 0.82136419 |
| 56 | Fatty acid degradation_Homo sapiens_hsa00071 | 0.81313231 |
| 57 | Vitamin digestion and absorption_Homo sapiens_hsa04977 | 0.78506839 |
| 58 | Intestinal immune network for IgA production_Homo sapiens_hsa04672 | 0.75271334 |
| 59 | Purine metabolism_Homo sapiens_hsa00230 | 0.74907941 |
| 60 | Protein export_Homo sapiens_hsa03060 | 0.73729483 |
| 61 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.72788768 |
| 62 | Metabolic pathways_Homo sapiens_hsa01100 | 0.72394450 |
| 63 | Primary bile acid biosynthesis_Homo sapiens_hsa00120 | 0.70671376 |
| 64 | Serotonergic synapse_Homo sapiens_hsa04726 | 0.69454668 |
| 65 | Caffeine metabolism_Homo sapiens_hsa00232 | 0.66477573 |
| 66 | Lysine degradation_Homo sapiens_hsa00310 | 0.65020184 |
| 67 | Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980 | 0.64988691 |
| 68 | Glycerolipid metabolism_Homo sapiens_hsa00561 | 0.64870217 |
| 69 | Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760 | 0.64215323 |
| 70 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 0.64001258 |
| 71 | Cocaine addiction_Homo sapiens_hsa05030 | 0.63022605 |
| 72 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.61739212 |
| 73 | Arginine and proline metabolism_Homo sapiens_hsa00330 | 0.61723172 |
| 74 | Circadian entrainment_Homo sapiens_hsa04713 | 0.61620967 |
| 75 | Histidine metabolism_Homo sapiens_hsa00340 | 0.60928460 |
| 76 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.60639133 |
| 77 | Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630 | 0.60488746 |
| 78 | Retrograde endocannabinoid signaling_Homo sapiens_hsa04723 | 0.59731611 |
| 79 | Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860 | 0.55585444 |
| 80 | GABAergic synapse_Homo sapiens_hsa04727 | 0.54211412 |
| 81 | Pyruvate metabolism_Homo sapiens_hsa00620 | 0.52567765 |
| 82 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 0.52252645 |
| 83 | Glycosaminoglycan degradation_Homo sapiens_hsa00531 | 0.51553228 |
| 84 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.51424486 |
| 85 | Fatty acid metabolism_Homo sapiens_hsa01212 | 0.50914712 |
| 86 | Pyrimidine metabolism_Homo sapiens_hsa00240 | 0.50092643 |
| 87 | RNA transport_Homo sapiens_hsa03013 | 0.49945148 |
| 88 | Steroid biosynthesis_Homo sapiens_hsa00100 | 0.48667264 |
| 89 | Regulation of autophagy_Homo sapiens_hsa04140 | 0.42663691 |
| 90 | Glycine, serine and threonine metabolism_Homo sapiens_hsa00260 | 0.42613107 |
| 91 | Carbohydrate digestion and absorption_Homo sapiens_hsa04973 | 0.42355076 |
| 92 | Salivary secretion_Homo sapiens_hsa04970 | 0.42064690 |
| 93 | Systemic lupus erythematosus_Homo sapiens_hsa05322 | 0.41889008 |
| 94 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 0.41068959 |
| 95 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.39258754 |
| 96 | Alcoholism_Homo sapiens_hsa05034 | 0.39134101 |
| 97 | Pentose and glucuronate interconversions_Homo sapiens_hsa00040 | 0.37702151 |
| 98 | Type I diabetes mellitus_Homo sapiens_hsa04940 | 0.34848134 |
| 99 | Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623 | 0.32636806 |
| 100 | Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520 | 0.32610817 |

