

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | water homeostasis (GO:0030104) | 9.33365037 |
| 2 | hair cycle (GO:0042633) | 8.83670476 |
| 3 | molting cycle (GO:0042303) | 8.83670476 |
| 4 | keratinocyte proliferation (GO:0043616) | 8.79581410 |
| 5 | epidermal cell differentiation (GO:0009913) | 8.56410535 |
| 6 | peptide cross-linking (GO:0018149) | 8.04655942 |
| 7 | long-chain fatty acid biosynthetic process (GO:0042759) | 7.55245805 |
| 8 | epidermis development (GO:0008544) | 7.33879734 |
| 9 | skin morphogenesis (GO:0043589) | 6.43016790 |
| 10 | lipoxygenase pathway (GO:0019372) | 6.37802252 |
| 11 | bundle of His cell to Purkinje myocyte communication (GO:0086069) | 6.31627731 |
| 12 | linoleic acid metabolic process (GO:0043651) | 6.27060689 |
| 13 | detection of bacterium (GO:0016045) | 5.92026094 |
| 14 | phosphatidylserine acyl-chain remodeling (GO:0036150) | 5.87802622 |
| 15 | phosphatidylinositol acyl-chain remodeling (GO:0036149) | 5.85759114 |
| 16 | intermediate filament organization (GO:0045109) | 5.83807867 |
| 17 | positive regulation of cellular amide metabolic process (GO:0034250) | 5.76782156 |
| 18 | detection of other organism (GO:0098543) | 5.38832744 |
| 19 | intermediate filament cytoskeleton organization (GO:0045104) | 4.92845862 |
| 20 | phosphatidylethanolamine acyl-chain remodeling (GO:0036152) | 4.83290384 |
| 21 | intermediate filament-based process (GO:0045103) | 4.77263965 |
| 22 | phosphatidylglycerol acyl-chain remodeling (GO:0036148) | 4.76407721 |
| 23 | surfactant homeostasis (GO:0043129) | 4.72033635 |
| 24 | regulation of transforming growth factor beta1 production (GO:0032908) | 4.54902407 |
| 25 | regulation of natural killer cell differentiation (GO:0032823) | 4.51307236 |
| 26 | hemidesmosome assembly (GO:0031581) | 4.44648027 |
| 27 | keratinocyte development (GO:0003334) | 4.40971732 |
| 28 | negative regulation of interferon-gamma production (GO:0032689) | 4.29927762 |
| 29 | phosphatidylcholine acyl-chain remodeling (GO:0036151) | 4.28225852 |
| 30 | positive regulation of interleukin-8 secretion (GO:2000484) | 4.26873763 |
| 31 | ectoderm development (GO:0007398) | 4.17798580 |
| 32 | chemical homeostasis within a tissue (GO:0048875) | 4.15026839 |
| 33 | positive regulation of glomerulus development (GO:0090193) | 4.06932253 |
| 34 | ceramide biosynthetic process (GO:0046513) | 3.92109693 |
| 35 | defense response to Gram-negative bacterium (GO:0050829) | 3.86655084 |
| 36 | fatty acid elongation (GO:0030497) | 3.85862344 |
| 37 | defense response to fungus (GO:0050832) | 3.85038365 |
| 38 | positive regulation of cholesterol efflux (GO:0010875) | 3.79703067 |
| 39 | phospholipid efflux (GO:0033700) | 3.68489190 |
| 40 | regulation of cell proliferation involved in kidney development (GO:1901722) | 3.65802011 |
| 41 | phosphatidylserine metabolic process (GO:0006658) | 3.58667687 |
| 42 | positive regulation of epidermal cell differentiation (GO:0045606) | 3.53404469 |
| 43 | negative regulation of interleukin-17 production (GO:0032700) | 3.53326592 |
| 44 | positive regulation of epidermis development (GO:0045684) | 3.50264294 |
| 45 | positive regulation of humoral immune response (GO:0002922) | 3.47494147 |
| 46 | establishment of planar polarity (GO:0001736) | 3.46124164 |
| 47 | establishment of tissue polarity (GO:0007164) | 3.46124164 |
| 48 | epithelium development (GO:0060429) | 3.43957525 |
| 49 | positive regulation of p38MAPK cascade (GO:1900745) | 3.34340072 |
| 50 | positive regulation of cholesterol transport (GO:0032376) | 3.31885242 |
| 51 | positive regulation of sterol transport (GO:0032373) | 3.31885242 |
| 52 | regulation of keratinocyte differentiation (GO:0045616) | 3.30085405 |
| 53 | antimicrobial humoral response (GO:0019730) | 3.24065294 |
| 54 | negative regulation of keratinocyte proliferation (GO:0010839) | 3.20255908 |
| 55 | * keratinization (GO:0031424) | 28.2337261 |
| 56 | establishment of skin barrier (GO:0061436) | 20.6564112 |
| 57 | detection of external biotic stimulus (GO:0098581) | 2.99905122 |
| 58 | polarized epithelial cell differentiation (GO:0030859) | 2.99552582 |
| 59 | lateral sprouting from an epithelium (GO:0060601) | 2.99241786 |
| 60 | positive regulation of keratinocyte differentiation (GO:0045618) | 2.96936141 |
| 61 | epithelial cell differentiation involved in prostate gland development (GO:0060742) | 2.90263072 |
| 62 | positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141) | 2.88240455 |
| 63 | regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139) | 2.88240455 |
| 64 | regulation of cellular amide metabolic process (GO:0034248) | 2.87229649 |
| 65 | regulation of epidermis development (GO:0045682) | 2.85058802 |
| 66 | alditol phosphate metabolic process (GO:0052646) | 2.85056160 |
| 67 | phospholipid catabolic process (GO:0009395) | 2.81423640 |
| 68 | regulation of interleukin-8 secretion (GO:2000482) | 2.78407026 |
| 69 | regulation of epidermal cell differentiation (GO:0045604) | 2.74670952 |
| 70 | regulation of p38MAPK cascade (GO:1900744) | 2.73563345 |
| 71 | positive regulation of T-helper 1 type immune response (GO:0002827) | 2.72571975 |
| 72 | gap junction assembly (GO:0016264) | 2.69216074 |
| 73 | regulation of cholesterol homeostasis (GO:2000188) | 2.64692950 |
| 74 | regulation of axon regeneration (GO:0048679) | 2.60351927 |
| 75 | regulation of neuron projection regeneration (GO:0070570) | 2.60351927 |
| 76 | sphingolipid biosynthetic process (GO:0030148) | 2.60181909 |
| 77 | regulation of keratinocyte proliferation (GO:0010837) | 2.57552937 |
| 78 | regulation of glomerulus development (GO:0090192) | 2.57074912 |
| 79 | response to fungus (GO:0009620) | 2.53947235 |
| 80 | regulation of protein localization to cell surface (GO:2000008) | 2.53801149 |
| 81 | detection of biotic stimulus (GO:0009595) | 2.53309788 |
| 82 | phosphatidylglycerol metabolic process (GO:0046471) | 2.49710017 |
| 83 | positive regulation of transforming growth factor beta production (GO:0071636) | 2.49587165 |
| 84 | hair follicle morphogenesis (GO:0031069) | 2.44769275 |
| 85 | skin development (GO:0043588) | 2.43047583 |
| 86 | regulation of cholesterol efflux (GO:0010874) | 2.42625403 |
| 87 | ventricular cardiac muscle cell action potential (GO:0086005) | 2.40659284 |
| 88 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 2.38898122 |
| 89 | atrioventricular valve morphogenesis (GO:0003181) | 2.34152433 |
| 90 | eyelid development in camera-type eye (GO:0061029) | 2.32200884 |
| 91 | one-carbon compound transport (GO:0019755) | 2.32121229 |
| 92 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 2.31579120 |
| 93 | epithelial cell differentiation (GO:0030855) | 2.31526738 |
| 94 | epithelial cell-cell adhesion (GO:0090136) | 2.30980093 |
| 95 | polyol transport (GO:0015791) | 2.28459977 |
| 96 | regulation of hair cycle (GO:0042634) | 2.28419300 |
| 97 | regulation of water loss via skin (GO:0033561) | 17.7015530 |
| 98 | desmosome organization (GO:0002934) | 12.1863397 |
| 99 | multicellular organismal water homeostasis (GO:0050891) | 11.1996662 |
| 100 | keratinocyte differentiation (GO:0030216) | 10.5987432 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 6.32952143 |
| 2 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 4.57221075 |
| 3 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 4.55759071 |
| 4 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 2.82470043 |
| 5 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 2.79378722 |
| 6 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 2.74990034 |
| 7 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 2.61561140 |
| 8 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 2.61561140 |
| 9 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 2.56086337 |
| 10 | TP63_23658742_ChIP-Seq_EP156T_Human | 2.17399463 |
| 11 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 2.15749676 |
| 12 | RXR_22108803_ChIP-Seq_LS180_Human | 2.14902318 |
| 13 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 2.06123147 |
| 14 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 2.02882699 |
| 15 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 13.1088253 |
| 16 | * TP63_22573176_ChIP-Seq_HFKS_Human | 1.88904648 |
| 17 | * GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.73883793 |
| 18 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.67099454 |
| 19 | EGR1_19032775_ChIP-ChIP_M12_Human | 1.57891534 |
| 20 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.56694214 |
| 21 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 1.49545519 |
| 22 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.49091382 |
| 23 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.45926549 |
| 24 | * CTCF_27219007_Chip-Seq_Bcells_Human | 1.42470236 |
| 25 | ATF3_27146783_Chip-Seq_COLON_Human | 1.38574542 |
| 26 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.34170799 |
| 27 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.32066902 |
| 28 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.30880728 |
| 29 | KLF5_25053715_ChIP-Seq_YYC3_Human | 1.27107150 |
| 30 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 1.24074205 |
| 31 | GATA3_24758297_ChIP-Seq_MCF-7_Human | 1.23679046 |
| 32 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.21420374 |
| 33 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.19648878 |
| 34 | RACK7_27058665_Chip-Seq_MCF-7_Human | 1.18725528 |
| 35 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.16467539 |
| 36 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.14604562 |
| 37 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.12497946 |
| 38 | FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.10575373 |
| 39 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.10229523 |
| 40 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.08751602 |
| 41 | FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human | 1.07600992 |
| 42 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.07411729 |
| 43 | SOX2_20726797_ChIP-Seq_SW620_Human | 1.06211906 |
| 44 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 1.04524175 |
| 45 | TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat | 1.01495562 |
| 46 | SOX2_27498859_Chip-Seq_STOMACH_Mouse | 0.99261221 |
| 47 | BCOR_27268052_Chip-Seq_Bcells_Human | 0.97867004 |
| 48 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 0.97300025 |
| 49 | TP53_18474530_ChIP-ChIP_U2OS_Human | 0.96716745 |
| 50 | BMI1_19503595_ChIP-Seq_MEFsC_Mouse | 0.95889167 |
| 51 | * CTCF_20526341_ChIP-Seq_ESCs_Human | 0.95747939 |
| 52 | P53_21459846_ChIP-Seq_SAOS-2_Human | 0.93928127 |
| 53 | CJUN_26792858_Chip-Seq_BT549_Human | 0.92949177 |
| 54 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 0.92217136 |
| 55 | CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human | 0.92084390 |
| 56 | JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.91879479 |
| 57 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 0.91538331 |
| 58 | AR_21572438_ChIP-Seq_LNCaP_Human | 0.91212220 |
| 59 | ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.90432790 |
| 60 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 0.89975982 |
| 61 | ZNF263_19887448_ChIP-Seq_K562_Human | 0.89568382 |
| 62 | SMC4_20622854_ChIP-Seq_HELA_Human | 0.89480047 |
| 63 | * E2F1_20622854_ChIP-Seq_HELA_Human | 0.89298427 |
| 64 | * SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 0.87336740 |
| 65 | ATF3_23680149_ChIP-Seq_GBM1-GSC_Human | 0.87185686 |
| 66 | AR_21915096_ChIP-Seq_LNCaP-1F5_Human | 0.86883647 |
| 67 | STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse | 0.85005359 |
| 68 | GATA4_25053715_ChIP-Seq_YYC3_Human | 0.82739748 |
| 69 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 0.82671843 |
| 70 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 0.82384186 |
| 71 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 0.81339122 |
| 72 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 0.80779064 |
| 73 | GATA6_25053715_ChIP-Seq_YYC3_Human | 0.80527274 |
| 74 | AUTS2_25519132_ChIP-Seq_293T-REX_Human | 0.80070207 |
| 75 | LXR_22292898_ChIP-Seq_THP-1_Human | 0.78495913 |
| 76 | CLOCK_20551151_ChIP-Seq_293T_Human | 0.77767936 |
| 77 | HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse | 0.77287456 |
| 78 | * CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 0.74639901 |
| 79 | RBPJ_21746931_ChIP-Seq_IB4_Human | 0.73773317 |
| 80 | ELK3_25401928_ChIP-Seq_HUVEC_Human | 0.72872029 |
| 81 | RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse | 0.72797307 |
| 82 | CEBPB_22108803_ChIP-Seq_LS180_Human | 0.72724866 |
| 83 | AHR_22903824_ChIP-Seq_MCF-7_Human | 0.72555669 |
| 84 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 0.70371553 |
| 85 | TP53_16413492_ChIP-PET_HCT116_Human | 0.69996282 |
| 86 | MNX1_26342078_ChIP-Seq_MIN6-4N_Mouse | 0.69116225 |
| 87 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.68511107 |
| 88 | GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.66739419 |
| 89 | * SMAD4_21741376_ChIP-Seq_ESCs_Human | 0.64499365 |
| 90 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 0.64417446 |
| 91 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 0.64417446 |
| 92 | Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse | 0.64152137 |
| 93 | * YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.64037414 |
| 94 | FOXA1_25552417_ChIP-Seq_VCAP_Human | 0.63565327 |
| 95 | KDM2B_26808549_Chip-Seq_K562_Human | 0.63286594 |
| 96 | BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 0.62610520 |
| 97 | TAF2_19829295_ChIP-Seq_ESCs_Human | 0.62253479 |
| 98 | JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse | 0.61720504 |
| 99 | * P68_20966046_ChIP-Seq_HELA_Human | 0.60939131 |
| 100 | P300_27058665_Chip-Seq_ZR-75-30cells_Human | 0.58449773 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005275_abnormal_skin_tensile | 7.11078201 |
| 2 | MP0010234_abnormal_vibrissa_follicle | 5.83332499 |
| 3 | MP0005501_abnormal_skin_physiology | 5.65483532 |
| 4 | MP0000579_abnormal_nail_morphology | 4.87946693 |
| 5 | MP0003941_abnormal_skin_development | 4.16229833 |
| 6 | MP0009379_abnormal_foot_pigmentation | 3.40822429 |
| 7 | MP0001216_abnormal_epidermal_layer | 3.27166515 |
| 8 | MP0003453_abnormal_keratinocyte_physiol | 3.12893625 |
| 9 | MP0004947_skin_inflammation | 2.94509157 |
| 10 | MP0010771_integument_phenotype | 2.92172900 |
| 11 | MP0010678_abnormal_skin_adnexa | 2.88519079 |
| 12 | MP0004381_abnormal_hair_follicle | 2.80404859 |
| 13 | MP0003191_abnormal_cellular_cholesterol | 2.69729236 |
| 14 | MP0000383_abnormal_hair_follicle | 2.60114075 |
| 15 | MP0002060_abnormal_skin_morphology | 2.56809138 |
| 16 | MP0002098_abnormal_vibrissa_morphology | 2.30199505 |
| 17 | MP0000377_abnormal_hair_follicle | 2.23413159 |
| 18 | MP0000566_synostosis | 2.11606993 |
| 19 | MP0004782_abnormal_surfactant_physiolog | 2.03289785 |
| 20 | MP0002796_impaired_skin_barrier | 10.2034305 |
| 21 | MP0001188_hyperpigmentation | 1.90771794 |
| 22 | MP0003705_abnormal_hypodermis_morpholog | 1.85828485 |
| 23 | MP0000467_abnormal_esophagus_morphology | 1.84310406 |
| 24 | MP0005409_darkened_coat_color | 1.79671239 |
| 25 | MP0009931_abnormal_skin_appearance | 1.77973310 |
| 26 | MP0003011_delayed_dark_adaptation | 1.70895819 |
| 27 | MP0000647_abnormal_sebaceous_gland | 1.56645762 |
| 28 | MP0001191_abnormal_skin_condition | 1.42691737 |
| 29 | MP0000367_abnormal_coat/_hair | 1.35303550 |
| 30 | MP0002095_abnormal_skin_pigmentation | 1.34341877 |
| 31 | MP0003566_abnormal_cell_adhesion | 1.25497854 |
| 32 | MP0004885_abnormal_endolymph | 1.24154567 |
| 33 | MP0000427_abnormal_hair_cycle | 1.22551919 |
| 34 | MP0003878_abnormal_ear_physiology | 1.18705011 |
| 35 | MP0005377_hearing/vestibular/ear_phenot | 1.18705011 |
| 36 | MP0000762_abnormal_tongue_morphology | 1.18238565 |
| 37 | MP0000015_abnormal_ear_pigmentation | 1.16194848 |
| 38 | MP0005174_abnormal_tail_pigmentation | 1.05301937 |
| 39 | MP0000465_gastrointestinal_hemorrhage | 1.04900793 |
| 40 | MP0001784_abnormal_fluid_regulation | 0.89959999 |
| 41 | MP0001243_abnormal_dermal_layer | 0.89575067 |
| 42 | MP0010352_gastrointestinal_tract_polyps | 0.88319741 |
| 43 | MP0003950_abnormal_plasma_membrane | 0.86094177 |
| 44 | MP0004264_abnormal_extraembryonic_tissu | 0.85354352 |
| 45 | MP0009053_abnormal_anal_canal | 0.84240910 |
| 46 | MP0005023_abnormal_wound_healing | 0.82803155 |
| 47 | MP0001851_eye_inflammation | 0.77996526 |
| 48 | MP0002177_abnormal_outer_ear | 0.71047075 |
| 49 | MP0002234_abnormal_pharynx_morphology | 0.62106890 |
| 50 | MP0004185_abnormal_adipocyte_glucose | 0.56163643 |
| 51 | MP0001984_abnormal_olfaction | 0.50101476 |
| 52 | MP0005075_abnormal_melanosome_morpholog | 0.48654732 |
| 53 | MP0001340_abnormal_eyelid_morphology | 0.47369292 |
| 54 | MP0009333_abnormal_splenocyte_physiolog | 0.44187444 |
| 55 | MP0001177_atelectasis | 0.42828315 |
| 56 | MP0009780_abnormal_chondrocyte_physiolo | 0.40429807 |
| 57 | MP0003763_abnormal_thymus_physiology | 0.38882656 |
| 58 | MP0005076_abnormal_cell_differentiation | 0.38695329 |
| 59 | MP0003315_abnormal_perineum_morphology | 0.37712427 |
| 60 | MP0002009_preneoplasia | 0.37641733 |
| 61 | MP0010030_abnormal_orbit_morphology | 0.36142145 |
| 62 | MP0008004_abnormal_stomach_pH | 0.35613610 |
| 63 | MP0008789_abnormal_olfactory_epithelium | 0.35088074 |
| 64 | MP0005388_respiratory_system_phenotype | 0.32768300 |
| 65 | MP0002133_abnormal_respiratory_system | 0.32768300 |
| 66 | MP0005499_abnormal_olfactory_system | 0.30768584 |
| 67 | MP0005394_taste/olfaction_phenotype | 0.30768584 |
| 68 | MP0003638_abnormal_response/metabolism_ | 0.29289878 |
| 69 | MP0000627_abnormal_mammary_gland | 0.28589407 |
| 70 | MP0002111_abnormal_tail_morphology | 0.28229984 |
| 71 | MP0004272_abnormal_basement_membrane | 0.24759761 |
| 72 | MP0003755_abnormal_palate_morphology | 0.23167085 |
| 73 | MP0009672_abnormal_birth_weight | 0.22845494 |
| 74 | MP0005257_abnormal_intraocular_pressure | 0.20663978 |
| 75 | MP0000685_abnormal_immune_system | 0.20365360 |
| 76 | MP0005375_adipose_tissue_phenotype | 0.20316166 |
| 77 | MP0002697_abnormal_eye_size | 0.19600350 |
| 78 | MP0004197_abnormal_fetal_growth/weight/ | 0.19541379 |
| 79 | MP0005666_abnormal_adipose_tissue | 0.18995797 |
| 80 | MP0001502_abnormal_circadian_rhythm | 0.18217074 |
| 81 | MP0003828_pulmonary_edema | 0.18001842 |
| 82 | MP0002233_abnormal_nose_morphology | 0.16780797 |
| 83 | MP0001186_pigmentation_phenotype | 0.15383067 |
| 84 | MP0002282_abnormal_trachea_morphology | 0.13996623 |
| 85 | MP0003221_abnormal_cardiomyocyte_apopto | 0.13339067 |
| 86 | MP0001756_abnormal_urination | 0.11946505 |
| 87 | MP0002138_abnormal_hepatobiliary_system | 0.10886169 |
| 88 | MP0000432_abnormal_head_morphology | 0.10486460 |
| 89 | MP0005193_abnormal_anterior_eye | 0.08677353 |
| 90 | MP0001299_abnormal_eye_distance/ | 0.08611124 |
| 91 | MP0008260_abnormal_autophagy | 0.08529104 |
| 92 | MP0002006_tumorigenesis | 0.08113331 |
| 93 | MP0003300_gastrointestinal_ulcer | 0.07275226 |
| 94 | MP0008569_lethality_at_weaning | 0.06540450 |
| 95 | MP0005647_abnormal_sex_gland | 0.04865225 |
| 96 | MP0002136_abnormal_kidney_physiology | 0.04540254 |
| 97 | MP0005248_abnormal_Harderian_gland | 0.04326835 |
| 98 | MP0004510_myositis | 0.04152948 |
| 99 | MP0005508_abnormal_skeleton_morphology | 0.04083114 |
| 100 | MP0003448_altered_tumor_morphology | 0.03911986 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Increased IgE level (HP:0003212) | 9.65930862 |
| 2 | Congenital ichthyosiform erythroderma (HP:0007431) | 8.98048422 |
| 3 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 8.76678363 |
| 4 | Palmoplantar hyperkeratosis (HP:0000972) | 8.36686172 |
| 5 | Palmar hyperkeratosis (HP:0010765) | 7.94880403 |
| 6 | Erythroderma (HP:0001019) | 7.82766016 |
| 7 | Parakeratosis (HP:0001036) | 7.04475697 |
| 8 | Plantar hyperkeratosis (HP:0007556) | 6.91721417 |
| 9 | Erythema (HP:0010783) | 6.91153051 |
| 10 | Hypotrichosis (HP:0001006) | 6.52166165 |
| 11 | Thick nail (HP:0001805) | 6.29185697 |
| 12 | Onycholysis (HP:0001806) | 5.71378751 |
| 13 | Alopecia of scalp (HP:0002293) | 5.62125780 |
| 14 | Corneal erosion (HP:0200020) | 5.55762568 |
| 15 | Oral leukoplakia (HP:0002745) | 5.49582574 |
| 16 | Abnormality of secondary sexual hair (HP:0009888) | 4.99035710 |
| 17 | Abnormality of the axillary hair (HP:0100134) | 4.99035710 |
| 18 | Palmoplantar keratoderma (HP:0000982) | 4.76173021 |
| 19 | Gangrene (HP:0100758) | 4.51571536 |
| 20 | Ectropion (HP:0000656) | 4.50076988 |
| 21 | Hypohidrosis (HP:0000966) | 4.32931302 |
| 22 | Right ventricular cardiomyopathy (HP:0011663) | 4.21860130 |
| 23 | Fragile nails (HP:0001808) | 4.14285076 |
| 24 | Conjunctival hamartoma (HP:0100780) | 4.07666043 |
| 25 | Woolly hair (HP:0002224) | 4.06054207 |
| 26 | Abnormal blistering of the skin (HP:0008066) | 3.67039768 |
| 27 | Eczematoid dermatitis (HP:0000976) | 3.63974739 |
| 28 | Nail dystrophy (HP:0008404) | 3.58718508 |
| 29 | Lip pit (HP:0100267) | 3.57731220 |
| 30 | Pruritus (HP:0000989) | 3.37958426 |
| 31 | Follicular hyperkeratosis (HP:0007502) | 3.36842213 |
| 32 | Abnormality of the salivary glands (HP:0010286) | 3.31872691 |
| 33 | Sparse eyelashes (HP:0000653) | 3.14388732 |
| 34 | Sparse scalp hair (HP:0002209) | 3.12668035 |
| 35 | Absent eyelashes (HP:0000561) | 2.92930172 |
| 36 | Hamartoma of the eye (HP:0010568) | 2.72655207 |
| 37 | Lack of skin elasticity (HP:0100679) | 2.70080263 |
| 38 | Pili torti (HP:0003777) | 2.63105701 |
| 39 | Natal tooth (HP:0000695) | 2.57911318 |
| 40 | Abnormal hair laboratory examination (HP:0003328) | 2.55459592 |
| 41 | Hyperhidrosis (HP:0000975) | 2.54501615 |
| 42 | Pustule (HP:0200039) | 2.49791108 |
| 43 | Hypergammaglobulinemia (HP:0010702) | 2.45620413 |
| 44 | Laryngomalacia (HP:0001601) | 2.44320988 |
| 45 | Absent hair (HP:0002298) | 2.39860219 |
| 46 | Dehydration (HP:0001944) | 2.32046311 |
| 47 | Milia (HP:0001056) | 2.28846497 |
| 48 | Furrowed tongue (HP:0000221) | 2.28174838 |
| 49 | Advanced eruption of teeth (HP:0006288) | 2.21793893 |
| 50 | Blepharitis (HP:0000498) | 2.20432490 |
| 51 | Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204) | 2.15496270 |
| 52 | Hypoplastic labia majora (HP:0000059) | 2.14840090 |
| 53 | Acanthosis nigricans (HP:0000956) | 2.01360416 |
| 54 | Abnormality of nail color (HP:0100643) | 11.9279693 |
| 55 | Axonal loss (HP:0003447) | 1.99150241 |
| 56 | Anonychia (HP:0001798) | 1.98906538 |
| 57 | Dry skin (HP:0000958) | 1.97163963 |
| 58 | Abnormality of the labia majora (HP:0012881) | 1.95940502 |
| 59 | Ridged nail (HP:0001807) | 1.89556094 |
| 60 | Sepsis (HP:0100806) | 1.84762658 |
| 61 | Corneal dystrophy (HP:0001131) | 1.83081134 |
| 62 | Split foot (HP:0001839) | 1.82549968 |
| 63 | Segmental peripheral demyelination/remyelination (HP:0003481) | 1.81714985 |
| 64 | Conical tooth (HP:0000698) | 1.81267324 |
| 65 | Melanocytic nevus (HP:0000995) | 1.81113513 |
| 66 | Skin ulcer (HP:0200042) | 1.79648346 |
| 67 | Curly hair (HP:0002212) | 1.78216337 |
| 68 | Brittle hair (HP:0002299) | 1.76435867 |
| 69 | Duplicated collecting system (HP:0000081) | 1.65919641 |
| 70 | Autoamputation (HP:0001218) | 1.65250514 |
| 71 | Xerostomia (HP:0000217) | 1.61141075 |
| 72 | Selective tooth agenesis (HP:0001592) | 1.60498516 |
| 73 | Abnormality of hair growth rate (HP:0011363) | 1.57567494 |
| 74 | Slow-growing hair (HP:0002217) | 1.57567494 |
| 75 | Nasolacrimal duct obstruction (HP:0000579) | 1.57311947 |
| 76 | Carious teeth (HP:0000670) | 1.56858759 |
| 77 | Hamartoma (HP:0010566) | 1.56449747 |
| 78 | Verrucae (HP:0200043) | 1.56028411 |
| 79 | Papilloma (HP:0012740) | 1.56028411 |
| 80 | Ventricular tachycardia (HP:0004756) | 1.53001530 |
| 81 | Septate vagina (HP:0001153) | 1.51390906 |
| 82 | Urticaria (HP:0001025) | 1.50693709 |
| 83 | Paralysis (HP:0003470) | 1.50686962 |
| 84 | Multifactorial inheritance (HP:0001426) | 1.50247617 |
| 85 | Amniotic constriction ring (HP:0009775) | 1.49637498 |
| 86 | Abnormality of placental membranes (HP:0011409) | 1.49637498 |
| 87 | Abnormality of the dental root (HP:0006486) | 1.48736197 |
| 88 | Taurodontia (HP:0000679) | 1.48736197 |
| 89 | Abnormality of permanent molar morphology (HP:0011071) | 1.48736197 |
| 90 | Popliteal pterygium (HP:0009756) | 1.44230233 |
| 91 | Recurrent corneal erosions (HP:0000495) | 1.44187743 |
| 92 | Abnormality of the fingernails (HP:0001231) | 1.44097772 |
| 93 | Depressed nasal tip (HP:0000437) | 1.42987243 |
| 94 | Neonatal death (HP:0003811) | 1.42137414 |
| 95 | Oligodontia (HP:0000677) | 1.42002183 |
| 96 | Abnormality of the renal collecting system (HP:0004742) | 1.40627265 |
| 97 | Abnormality of molar (HP:0011077) | 1.38816481 |
| 98 | Abnormality of molar morphology (HP:0011070) | 1.38816481 |
| 99 | Malignant hyperthermia (HP:0002047) | 1.37906049 |
| 100 | Anhidrosis (HP:0000970) | 1.33805591 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | EPHA2 | 7.54466249 |
| 2 | TGFBR1 | 4.11661450 |
| 3 | STK24 | 3.83218491 |
| 4 | MAP3K6 | 3.61090752 |
| 5 | FGFR1 | 3.36912745 |
| 6 | EEF2K | 3.11156889 |
| 7 | SGK494 | 2.82059774 |
| 8 | SGK223 | 2.82059774 |
| 9 | FER | 2.71668106 |
| 10 | MAPKAPK3 | 2.68379189 |
| 11 | MAP3K9 | 2.18345901 |
| 12 | FGFR3 | 1.89075026 |
| 13 | MST1R | 1.83289892 |
| 14 | RIPK1 | 1.77374332 |
| 15 | MAP3K3 | 1.72108846 |
| 16 | MAP3K2 | 1.69083862 |
| 17 | LATS1 | 1.60338796 |
| 18 | IRAK1 | 1.48660766 |
| 19 | EPHA3 | 1.33654796 |
| 20 | WNK1 | 1.31694500 |
| 21 | MAP3K1 | 1.30917526 |
| 22 | TRPM7 | 1.27475408 |
| 23 | PRPF4B | 1.25078542 |
| 24 | PIM2 | 1.24115897 |
| 25 | ERN1 | 1.23316244 |
| 26 | ABL2 | 1.22211672 |
| 27 | TGFBR2 | 1.19338860 |
| 28 | MARK2 | 1.18552553 |
| 29 | EPHB1 | 1.15424994 |
| 30 | MET | 1.14982350 |
| 31 | STK38L | 1.14721416 |
| 32 | AKT3 | 1.10023689 |
| 33 | PIK3CG | 1.07748701 |
| 34 | SGK2 | 1.06259066 |
| 35 | IRAK2 | 1.06152441 |
| 36 | LATS2 | 1.04413253 |
| 37 | IKBKB | 1.03871784 |
| 38 | MAP2K6 | 1.02313238 |
| 39 | ADRBK1 | 1.02156269 |
| 40 | MAPKAPK5 | 1.01648341 |
| 41 | GSK3A | 0.93035787 |
| 42 | MAP3K7 | 0.91028922 |
| 43 | MOS | 0.90207487 |
| 44 | STK3 | 0.89832358 |
| 45 | PTK2 | 0.89596270 |
| 46 | SGK3 | 0.87318587 |
| 47 | MAPK7 | 0.87304922 |
| 48 | IRAK4 | 0.84283123 |
| 49 | TAOK1 | 0.83241364 |
| 50 | MAPK15 | 0.81872740 |
| 51 | IKBKE | 0.81652384 |
| 52 | MAPK12 | 0.79902919 |
| 53 | MTOR | 0.78408470 |
| 54 | CDK12 | 0.77386273 |
| 55 | GRK7 | 0.75398571 |
| 56 | PKN1 | 0.73697370 |
| 57 | GRK6 | 0.69714405 |
| 58 | RPS6KB2 | 0.68007587 |
| 59 | PDGFRB | 0.67597239 |
| 60 | DYRK3 | 0.65612244 |
| 61 | PRKD2 | 0.65119824 |
| 62 | MAP3K12 | 0.62108634 |
| 63 | SGK1 | 0.61230169 |
| 64 | NLK | 0.57773726 |
| 65 | PRKAA2 | 0.54855634 |
| 66 | BMX | 0.54321057 |
| 67 | RPS6KB1 | 0.54293893 |
| 68 | STK10 | 0.49079276 |
| 69 | MAPKAPK2 | 0.48963332 |
| 70 | CDK6 | 0.45067688 |
| 71 | MAP2K4 | 0.44491418 |
| 72 | PBK | 0.41435688 |
| 73 | STK38 | 0.38907170 |
| 74 | FGFR2 | 0.38685365 |
| 75 | EPHB2 | 0.38292621 |
| 76 | MAPK4 | 0.38261351 |
| 77 | MAP3K5 | 0.35305290 |
| 78 | TAOK3 | 0.35008056 |
| 79 | HCK | 0.33966850 |
| 80 | SIK1 | 0.33486629 |
| 81 | CHUK | 0.31851071 |
| 82 | DYRK1B | 0.31446965 |
| 83 | MINK1 | 0.29402471 |
| 84 | PAK2 | 0.28880794 |
| 85 | ABL1 | 0.27486702 |
| 86 | MST4 | 0.27298601 |
| 87 | EPHA4 | 0.27290461 |
| 88 | MAP2K1 | 0.26604305 |
| 89 | GRK5 | 0.25340703 |
| 90 | PDGFRA | 0.24320122 |
| 91 | ICK | 0.24213938 |
| 92 | NEK6 | 0.22577225 |
| 93 | FGFR4 | 0.22539616 |
| 94 | RET | 0.21143981 |
| 95 | KSR2 | 0.20877908 |
| 96 | PRKCE | 0.19006998 |
| 97 | IRAK3 | 0.18936499 |
| 98 | MAPK9 | 0.18728183 |
| 99 | TBK1 | 0.16831472 |
| 100 | MAPK8 | 0.16499834 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 7.13649504 |
| 2 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 5.59592020 |
| 3 | Ether lipid metabolism_Homo sapiens_hsa00565 | 3.87369525 |
| 4 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 3.35211804 |
| 5 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 2.86572965 |
| 6 | GnRH signaling pathway_Homo sapiens_hsa04912 | 2.27060804 |
| 7 | Circadian rhythm_Homo sapiens_hsa04710 | 2.11044465 |
| 8 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 2.06720212 |
| 9 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 1.95064113 |
| 10 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.83322509 |
| 11 | VEGF signaling pathway_Homo sapiens_hsa04370 | 1.81556415 |
| 12 | Long-term depression_Homo sapiens_hsa04730 | 1.74406095 |
| 13 | Phototransduction_Homo sapiens_hsa04744 | 1.67498531 |
| 14 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.67261332 |
| 15 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.57215892 |
| 16 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.49590968 |
| 17 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 1.48975722 |
| 18 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.43058235 |
| 19 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 1.36655094 |
| 20 | Histidine metabolism_Homo sapiens_hsa00340 | 1.34289621 |
| 21 | Ras signaling pathway_Homo sapiens_hsa04014 | 1.22371018 |
| 22 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 1.20607786 |
| 23 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.17047747 |
| 24 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 1.16108340 |
| 25 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 1.14876043 |
| 26 | Fat digestion and absorption_Homo sapiens_hsa04975 | 1.13213354 |
| 27 | Renin secretion_Homo sapiens_hsa04924 | 1.07337892 |
| 28 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 1.04609417 |
| 29 | Amoebiasis_Homo sapiens_hsa05146 | 1.01698747 |
| 30 | p53 signaling pathway_Homo sapiens_hsa04115 | 1.01172789 |
| 31 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.99940719 |
| 32 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.95270885 |
| 33 | ABC transporters_Homo sapiens_hsa02010 | 0.89269599 |
| 34 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.85639069 |
| 35 | Platelet activation_Homo sapiens_hsa04611 | 0.78867667 |
| 36 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 0.78790693 |
| 37 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.77908948 |
| 38 | Tight junction_Homo sapiens_hsa04530 | 0.77254613 |
| 39 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.74360672 |
| 40 | Retinol metabolism_Homo sapiens_hsa00830 | 0.73153597 |
| 41 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.72262294 |
| 42 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.71504333 |
| 43 | Glioma_Homo sapiens_hsa05214 | 0.70878737 |
| 44 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.68539752 |
| 45 | Endocytosis_Homo sapiens_hsa04144 | 0.66499342 |
| 46 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.65747517 |
| 47 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.65524791 |
| 48 | Adherens junction_Homo sapiens_hsa04520 | 0.65484628 |
| 49 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.65180527 |
| 50 | RIG-I-like receptor signaling pathway_Homo sapiens_hsa04622 | 0.65103262 |
| 51 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.64622340 |
| 52 | Long-term potentiation_Homo sapiens_hsa04720 | 0.63148523 |
| 53 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.63012020 |
| 54 | Melanogenesis_Homo sapiens_hsa04916 | 0.62866081 |
| 55 | Pertussis_Homo sapiens_hsa05133 | 0.62613203 |
| 56 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.62324358 |
| 57 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.60134394 |
| 58 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.59733488 |
| 59 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.58842683 |
| 60 | Bladder cancer_Homo sapiens_hsa05219 | 0.57189995 |
| 61 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.54290925 |
| 62 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.53158588 |
| 63 | Salivary secretion_Homo sapiens_hsa04970 | 0.50913547 |
| 64 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.50701655 |
| 65 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.50616270 |
| 66 | Hepatitis C_Homo sapiens_hsa05160 | 0.48222107 |
| 67 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.47974769 |
| 68 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.46697183 |
| 69 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.44355585 |
| 70 | Tuberculosis_Homo sapiens_hsa05152 | 0.41637137 |
| 71 | Circadian entrainment_Homo sapiens_hsa04713 | 0.40660720 |
| 72 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.39828432 |
| 73 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.38751951 |
| 74 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.37817219 |
| 75 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.35831183 |
| 76 | Thyroid cancer_Homo sapiens_hsa05216 | 0.35710491 |
| 77 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.34517065 |
| 78 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.33976409 |
| 79 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.33788085 |
| 80 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.33278996 |
| 81 | Axon guidance_Homo sapiens_hsa04360 | 0.32473368 |
| 82 | FoxO signaling pathway_Homo sapiens_hsa04068 | 0.31716187 |
| 83 | Collecting duct acid secretion_Homo sapiens_hsa04966 | 0.31563366 |
| 84 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.31133737 |
| 85 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.30977696 |
| 86 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.30507005 |
| 87 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.30431846 |
| 88 | Pathways in cancer_Homo sapiens_hsa05200 | 0.28281070 |
| 89 | Salmonella infection_Homo sapiens_hsa05132 | 0.26186375 |
| 90 | Influenza A_Homo sapiens_hsa05164 | 0.24791458 |
| 91 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.22303779 |
| 92 | Nitrogen metabolism_Homo sapiens_hsa00910 | 0.22276959 |
| 93 | Transcriptional misregulation in cancer_Homo sapiens_hsa05202 | 0.21827229 |
| 94 | Mineral absorption_Homo sapiens_hsa04978 | 0.21824304 |
| 95 | Leukocyte transendothelial migration_Homo sapiens_hsa04670 | 0.21734279 |
| 96 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.21733497 |
| 97 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.20369452 |
| 98 | Shigellosis_Homo sapiens_hsa05131 | 0.19404726 |
| 99 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.18942087 |
| 100 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.18411115 |

