

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | desmosome organization (GO:0002934) | 9.70741215 |
| 2 | long-chain fatty acid biosynthetic process (GO:0042759) | 9.41957345 |
| 3 | water homeostasis (GO:0030104) | 9.34012999 |
| 4 | peptide cross-linking (GO:0018149) | 9.14784849 |
| 5 | skin morphogenesis (GO:0043589) | 8.94914246 |
| 6 | epidermal cell differentiation (GO:0009913) | 8.74381854 |
| 7 | detection of bacterium (GO:0016045) | 7.87247833 |
| 8 | keratinocyte proliferation (GO:0043616) | 7.77699713 |
| 9 | lipoxygenase pathway (GO:0019372) | 7.70232606 |
| 10 | linoleic acid metabolic process (GO:0043651) | 7.43436037 |
| 11 | epidermis development (GO:0008544) | 7.43293428 |
| 12 | detection of other organism (GO:0098543) | 7.28021458 |
| 13 | bundle of His cell to Purkinje myocyte communication (GO:0086069) | 6.97572754 |
| 14 | regulation of natural killer cell differentiation (GO:0032823) | 6.33712637 |
| 15 | molting cycle (GO:0042303) | 6.08928714 |
| 16 | hair cycle (GO:0042633) | 6.08928714 |
| 17 | surfactant homeostasis (GO:0043129) | 5.76702185 |
| 18 | negative regulation of interferon-gamma production (GO:0032689) | 5.27229001 |
| 19 | phosphatidylinositol acyl-chain remodeling (GO:0036149) | 5.20958944 |
| 20 | gap junction assembly (GO:0016264) | 5.15413686 |
| 21 | phosphatidylserine acyl-chain remodeling (GO:0036150) | 5.12961215 |
| 22 | chemical homeostasis within a tissue (GO:0048875) | 4.84979515 |
| 23 | intermediate filament cytoskeleton organization (GO:0045104) | 4.43432294 |
| 24 | intermediate filament organization (GO:0045109) | 4.34571319 |
| 25 | detection of external biotic stimulus (GO:0098581) | 4.30639188 |
| 26 | intermediate filament-based process (GO:0045103) | 4.30096732 |
| 27 | establishment of planar polarity (GO:0001736) | 4.20745832 |
| 28 | establishment of tissue polarity (GO:0007164) | 4.20745832 |
| 29 | ectoderm development (GO:0007398) | 4.20490135 |
| 30 | phospholipid efflux (GO:0033700) | 4.13039147 |
| 31 | phosphatidylethanolamine acyl-chain remodeling (GO:0036152) | 4.12667993 |
| 32 | positive regulation of monocyte chemotaxis (GO:0090026) | 4.10177625 |
| 33 | polarized epithelial cell differentiation (GO:0030859) | 4.05192633 |
| 34 | ceramide biosynthetic process (GO:0046513) | 4.05059748 |
| 35 | positive regulation of cholesterol efflux (GO:0010875) | 3.97502351 |
| 36 | lateral sprouting from an epithelium (GO:0060601) | 3.92709329 |
| 37 | negative regulation of interleukin-17 production (GO:0032700) | 3.85840965 |
| 38 | keratinocyte development (GO:0003334) | 3.81121180 |
| 39 | positive regulation of T cell chemotaxis (GO:0010820) | 3.80075196 |
| 40 | regulation of T cell chemotaxis (GO:0010819) | 3.80075196 |
| 41 | phosphatidylcholine acyl-chain remodeling (GO:0036151) | 3.70502170 |
| 42 | phosphatidylglycerol acyl-chain remodeling (GO:0036148) | 3.69563682 |
| 43 | detection of biotic stimulus (GO:0009595) | 3.68019634 |
| 44 | hemidesmosome assembly (GO:0031581) | 3.63341380 |
| 45 | sequestering of metal ion (GO:0051238) | 3.57146321 |
| 46 | epithelium development (GO:0060429) | 3.48895742 |
| 47 | positive regulation of cholesterol transport (GO:0032376) | 3.43599691 |
| 48 | positive regulation of sterol transport (GO:0032373) | 3.43599691 |
| 49 | phosphatidylserine metabolic process (GO:0006658) | 3.25850220 |
| 50 | regulation of natural killer cell activation (GO:0032814) | 3.16720813 |
| 51 | regulation of monocyte chemotaxis (GO:0090025) | 3.10461146 |
| 52 | epithelial cell differentiation involved in prostate gland development (GO:0060742) | 3.08669628 |
| 53 | negative regulation of keratinocyte proliferation (GO:0010839) | 3.07894039 |
| 54 | * keratinization (GO:0031424) | 29.3267939 |
| 55 | establishment of skin barrier (GO:0061436) | 20.7603989 |
| 56 | regulation of protein localization to cell surface (GO:2000008) | 2.96276069 |
| 57 | phospholipid catabolic process (GO:0009395) | 2.94418908 |
| 58 | regulation of keratinocyte differentiation (GO:0045616) | 2.82079930 |
| 59 | regulation of keratinocyte proliferation (GO:0010837) | 2.80142743 |
| 60 | eyelid development in camera-type eye (GO:0061029) | 2.67917057 |
| 61 | alditol phosphate metabolic process (GO:0052646) | 2.66417529 |
| 62 | sphingolipid biosynthetic process (GO:0030148) | 2.63380746 |
| 63 | ventricular cardiac muscle cell action potential (GO:0086005) | 2.61273149 |
| 64 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 2.60185313 |
| 65 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 2.57768353 |
| 66 | defense response to Gram-negative bacterium (GO:0050829) | 2.54669997 |
| 67 | fatty acid elongation (GO:0030497) | 2.53966891 |
| 68 | positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745) | 2.52928710 |
| 69 | regulation of cholesterol efflux (GO:0010874) | 2.49728965 |
| 70 | positive regulation of epidermis development (GO:0045684) | 2.47282433 |
| 71 | defense response to fungus (GO:0050832) | 2.45286294 |
| 72 | one-carbon compound transport (GO:0019755) | 2.44258156 |
| 73 | regulation of axon regeneration (GO:0048679) | 2.37028092 |
| 74 | regulation of neuron projection regeneration (GO:0070570) | 2.37028092 |
| 75 | polyol transport (GO:0015791) | 2.34001710 |
| 76 | epithelial cell differentiation (GO:0030855) | 2.33152818 |
| 77 | negative regulation of lymphocyte differentiation (GO:0045620) | 2.31557114 |
| 78 | regulation of heart rate by cardiac conduction (GO:0086091) | 2.30974611 |
| 79 | antimicrobial humoral response (GO:0019730) | 2.29249824 |
| 80 | regulation of epidermis development (GO:0045682) | 2.28287016 |
| 81 | hair follicle morphogenesis (GO:0031069) | 2.26121883 |
| 82 | positive regulation of epidermal cell differentiation (GO:0045606) | 2.24882451 |
| 83 | regulation of lymphocyte chemotaxis (GO:1901623) | 2.20868954 |
| 84 | regulation of interleukin-17 production (GO:0032660) | 2.17585000 |
| 85 | signal transduction in absence of ligand (GO:0038034) | 2.16306281 |
| 86 | extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192) | 2.16306281 |
| 87 | unsaturated fatty acid biosynthetic process (GO:0006636) | 2.14925955 |
| 88 | cell communication involved in cardiac conduction (GO:0086065) | 2.14898163 |
| 89 | regulation of epidermal cell differentiation (GO:0045604) | 2.12717868 |
| 90 | atrioventricular valve morphogenesis (GO:0003181) | 2.12281660 |
| 91 | skin development (GO:0043588) | 2.08878684 |
| 92 | intestinal epithelial cell development (GO:0060576) | 2.08676282 |
| 93 | positive regulation of granulocyte chemotaxis (GO:0071624) | 2.08504810 |
| 94 | smooth muscle tissue development (GO:0048745) | 2.06853874 |
| 95 | epithelial cell proliferation (GO:0050673) | 2.05284486 |
| 96 | membrane lipid biosynthetic process (GO:0046467) | 2.00791394 |
| 97 | regulation of water loss via skin (GO:0033561) | 17.8738397 |
| 98 | keratinocyte differentiation (GO:0030216) | 11.4430868 |
| 99 | multicellular organismal water homeostasis (GO:0050891) | 11.2208268 |
| 100 | phosphatidylglycerol metabolic process (GO:0046471) | 1.98186907 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 5.15183502 |
| 2 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 4.17436813 |
| 3 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 3.68145806 |
| 4 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 3.41166008 |
| 5 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 2.80945558 |
| 6 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 2.45622893 |
| 7 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 2.45622893 |
| 8 | TP63_23658742_ChIP-Seq_EP156T_Human | 2.27504788 |
| 9 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 2.22727745 |
| 10 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 2.17297857 |
| 11 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 12.2516653 |
| 12 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.91739791 |
| 13 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.86044640 |
| 14 | RXR_22108803_ChIP-Seq_LS180_Human | 1.83713178 |
| 15 | * TP63_22573176_ChIP-Seq_HFKS_Human | 1.70650041 |
| 16 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.66114038 |
| 17 | GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.64619374 |
| 18 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.62176051 |
| 19 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.61686287 |
| 20 | EGR1_19032775_ChIP-ChIP_M12_Human | 1.58297741 |
| 21 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.55659383 |
| 22 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 1.52856229 |
| 23 | CJUN_26792858_Chip-Seq_BT549_Human | 1.47090413 |
| 24 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.46017619 |
| 25 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.32753746 |
| 26 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.30430074 |
| 27 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.28935449 |
| 28 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.28811276 |
| 29 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.24256607 |
| 30 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.22608029 |
| 31 | * CTCF_27219007_Chip-Seq_Bcells_Human | 1.22405097 |
| 32 | SOX2_20726797_ChIP-Seq_SW620_Human | 1.21974792 |
| 33 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.20681250 |
| 34 | GATA3_24758297_ChIP-Seq_MCF-7_Human | 1.20011340 |
| 35 | * UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.10483878 |
| 36 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.08549435 |
| 37 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.08465200 |
| 38 | GATA1_22025678_ChIP-Seq_K562_Human | 1.06196770 |
| 39 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.06134648 |
| 40 | ATF3_27146783_Chip-Seq_COLON_Human | 1.06024182 |
| 41 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 1.00974388 |
| 42 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 1.00205825 |
| 43 | * KLF5_25053715_ChIP-Seq_YYC3_Human | 0.97863938 |
| 44 | FOXM1_26456572_ChIP-Seq_MCF-7_Human | 0.96846377 |
| 45 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 0.96638979 |
| 46 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 0.94980509 |
| 47 | E2F1_20622854_ChIP-Seq_HELA_Human | 0.94023061 |
| 48 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.93636694 |
| 49 | GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.92801391 |
| 50 | CTCF_20526341_ChIP-Seq_ESCs_Human | 0.91374886 |
| 51 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 0.91185567 |
| 52 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 0.91185567 |
| 53 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 0.89874055 |
| 54 | FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.88765835 |
| 55 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 0.88753047 |
| 56 | BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 0.87383409 |
| 57 | BCOR_27268052_Chip-Seq_Bcells_Human | 0.87228604 |
| 58 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 0.87181759 |
| 59 | P53_21459846_ChIP-Seq_SAOS-2_Human | 0.86787502 |
| 60 | STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse | 0.86722448 |
| 61 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 0.86183706 |
| 62 | HNFA_21074721_ChIP-Seq_CACO-2_Human | 0.86159155 |
| 63 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 0.85842464 |
| 64 | PCGF2_27294783_Chip-Seq_NPCs_Mouse | 0.84854035 |
| 65 | ZFP57_27257070_Chip-Seq_ESCs_Mouse | 0.84674165 |
| 66 | AR_21915096_ChIP-Seq_LNCaP-1F5_Human | 0.81468939 |
| 67 | FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human | 0.80920008 |
| 68 | JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.80674097 |
| 69 | GATA2_21666600_ChIP-Seq_HMVEC_Human | 0.80286103 |
| 70 | CDX2_19796622_ChIP-Seq_MESCs_Mouse | 0.80209334 |
| 71 | SMAD4_21799915_ChIP-Seq_A2780_Human | 0.79999772 |
| 72 | SOX2_27498859_Chip-Seq_STOMACH_Mouse | 0.79973411 |
| 73 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 0.79769198 |
| 74 | TP53_16413492_ChIP-PET_HCT116_Human | 0.79721982 |
| 75 | TAF2_19829295_ChIP-Seq_ESCs_Human | 0.78466625 |
| 76 | RACK7_27058665_Chip-Seq_MCF-7_Human | 0.78383180 |
| 77 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 0.77559604 |
| 78 | Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse | 0.77506722 |
| 79 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 0.77493179 |
| 80 | ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.76367958 |
| 81 | CLOCK_20551151_ChIP-Seq_293T_Human | 0.75798603 |
| 82 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 0.74611071 |
| 83 | RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human | 0.73928005 |
| 84 | MNX1_26342078_ChIP-Seq_MIN6-4N_Mouse | 0.73368433 |
| 85 | RBPJ_21746931_ChIP-Seq_IB4_Human | 0.72535131 |
| 86 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.71864528 |
| 87 | SMAD3_21741376_ChIP-Seq_HESCs_Human | 0.71004696 |
| 88 | SMAD4_21741376_ChIP-Seq_ESCs_Human | 0.70095093 |
| 89 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 0.69603858 |
| 90 | CEBPD_23245923_ChIP-Seq_MEFs_Mouse | 0.69432675 |
| 91 | TCF4_22108803_ChIP-Seq_LS180_Human | 0.68243886 |
| 92 | EBNA2_21746931_ChIP-Seq_IB4-LCL_Human | 0.68130842 |
| 93 | GATA4_25053715_ChIP-Seq_YYC3_Human | 0.67710992 |
| 94 | ESR1_22446102_ChIP-Seq_UTERUS_Mouse | 0.67566577 |
| 95 | RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.67236159 |
| 96 | RBPJ_21746931_ChIP-Seq_IB4-LCL_Human | 0.67046953 |
| 97 | SMC4_20622854_ChIP-Seq_HELA_Human | 0.66925418 |
| 98 | TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.66621453 |
| 99 | GATA2_19941826_ChIP-Seq_K562_Human | 0.64565279 |
| 100 | CDX2_22108803_ChIP-Seq_LS180_Human | 0.64311099 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005275_abnormal_skin_tensile | 7.73980020 |
| 2 | MP0005501_abnormal_skin_physiology | 6.02356117 |
| 3 | MP0000579_abnormal_nail_morphology | 4.96777682 |
| 4 | MP0003941_abnormal_skin_development | 4.58088687 |
| 5 | MP0010234_abnormal_vibrissa_follicle | 3.38638297 |
| 6 | MP0003191_abnormal_cellular_cholesterol | 3.30227375 |
| 7 | MP0001216_abnormal_epidermal_layer | 3.14812845 |
| 8 | MP0010771_integument_phenotype | 2.88133749 |
| 9 | MP0004885_abnormal_endolymph | 2.78202202 |
| 10 | MP0003878_abnormal_ear_physiology | 2.73267678 |
| 11 | MP0005377_hearing/vestibular/ear_phenot | 2.73267678 |
| 12 | MP0004947_skin_inflammation | 2.72606168 |
| 13 | MP0003453_abnormal_keratinocyte_physiol | 2.68942276 |
| 14 | MP0002060_abnormal_skin_morphology | 2.60727550 |
| 15 | MP0004782_abnormal_surfactant_physiolog | 2.14025678 |
| 16 | MP0000377_abnormal_hair_follicle | 2.06193945 |
| 17 | MP0002796_impaired_skin_barrier | 11.0338694 |
| 18 | MP0010678_abnormal_skin_adnexa | 1.98964095 |
| 19 | MP0010352_gastrointestinal_tract_polyps | 1.88772494 |
| 20 | MP0003705_abnormal_hypodermis_morpholog | 1.83277763 |
| 21 | MP0000383_abnormal_hair_follicle | 1.81374800 |
| 22 | MP0001188_hyperpigmentation | 1.75531200 |
| 23 | MP0009931_abnormal_skin_appearance | 1.71996117 |
| 24 | MP0000467_abnormal_esophagus_morphology | 1.70572792 |
| 25 | MP0004381_abnormal_hair_follicle | 1.69936430 |
| 26 | MP0002098_abnormal_vibrissa_morphology | 1.68969568 |
| 27 | MP0001191_abnormal_skin_condition | 1.66566451 |
| 28 | MP0005409_darkened_coat_color | 1.58961821 |
| 29 | MP0000647_abnormal_sebaceous_gland | 1.47899719 |
| 30 | MP0004264_abnormal_extraembryonic_tissu | 1.46078674 |
| 31 | MP0003566_abnormal_cell_adhesion | 1.45819473 |
| 32 | MP0009379_abnormal_foot_pigmentation | 1.42494077 |
| 33 | MP0000566_synostosis | 1.19809819 |
| 34 | MP0003011_delayed_dark_adaptation | 1.17114322 |
| 35 | MP0000427_abnormal_hair_cycle | 1.11947979 |
| 36 | MP0000367_abnormal_coat/_hair | 1.11636526 |
| 37 | MP0000465_gastrointestinal_hemorrhage | 1.09967917 |
| 38 | MP0002095_abnormal_skin_pigmentation | 1.09203655 |
| 39 | MP0000762_abnormal_tongue_morphology | 1.08102231 |
| 40 | MP0001784_abnormal_fluid_regulation | 1.02507570 |
| 41 | MP0001243_abnormal_dermal_layer | 0.90623513 |
| 42 | MP0005023_abnormal_wound_healing | 0.87283211 |
| 43 | MP0009053_abnormal_anal_canal | 0.85655058 |
| 44 | MP0001851_eye_inflammation | 0.69081472 |
| 45 | MP0002138_abnormal_hepatobiliary_system | 0.65792247 |
| 46 | MP0008438_abnormal_cutaneous_collagen | 0.65486539 |
| 47 | MP0003950_abnormal_plasma_membrane | 0.58953635 |
| 48 | MP0000015_abnormal_ear_pigmentation | 0.56822360 |
| 49 | MP0005503_abnormal_tendon_morphology | 0.55455454 |
| 50 | MP0002177_abnormal_outer_ear | 0.53088942 |
| 51 | MP0005174_abnormal_tail_pigmentation | 0.50355212 |
| 52 | MP0002234_abnormal_pharynx_morphology | 0.49804370 |
| 53 | MP0008004_abnormal_stomach_pH | 0.49357025 |
| 54 | MP0001177_atelectasis | 0.46350169 |
| 55 | MP0000569_abnormal_digit_pigmentation | 0.45607712 |
| 56 | MP0009780_abnormal_chondrocyte_physiolo | 0.42126744 |
| 57 | MP0001340_abnormal_eyelid_morphology | 0.38897479 |
| 58 | MP0005388_respiratory_system_phenotype | 0.37515967 |
| 59 | MP0002133_abnormal_respiratory_system | 0.37515967 |
| 60 | MP0004197_abnormal_fetal_growth/weight/ | 0.36685703 |
| 61 | MP0009672_abnormal_birth_weight | 0.36476520 |
| 62 | MP0004185_abnormal_adipocyte_glucose | 0.36217478 |
| 63 | MP0001485_abnormal_pinna_reflex | 0.34345254 |
| 64 | MP0003315_abnormal_perineum_morphology | 0.33528207 |
| 65 | MP0004272_abnormal_basement_membrane | 0.30877581 |
| 66 | MP0008789_abnormal_olfactory_epithelium | 0.29725956 |
| 67 | MP0003638_abnormal_response/metabolism_ | 0.26198220 |
| 68 | MP0000627_abnormal_mammary_gland | 0.25752853 |
| 69 | MP0005499_abnormal_olfactory_system | 0.24452727 |
| 70 | MP0005394_taste/olfaction_phenotype | 0.24452727 |
| 71 | MP0001958_emphysema | 0.22997866 |
| 72 | MP0002697_abnormal_eye_size | 0.22912705 |
| 73 | MP0003763_abnormal_thymus_physiology | 0.22786702 |
| 74 | MP0010030_abnormal_orbit_morphology | 0.20739933 |
| 75 | MP0005257_abnormal_intraocular_pressure | 0.19806077 |
| 76 | MP0000428_abnormal_craniofacial_morphol | 0.19145807 |
| 77 | MP0002111_abnormal_tail_morphology | 0.19121894 |
| 78 | MP0002877_abnormal_melanocyte_morpholog | 0.18721313 |
| 79 | MP0000432_abnormal_head_morphology | 0.18519316 |
| 80 | MP0003755_abnormal_palate_morphology | 0.18230770 |
| 81 | MP0003279_aneurysm | 0.17451648 |
| 82 | MP0000858_altered_metastatic_potential | 0.17168303 |
| 83 | MP0001542_abnormal_bone_strength | 0.16904798 |
| 84 | MP0000685_abnormal_immune_system | 0.16735001 |
| 85 | MP0003828_pulmonary_edema | 0.15868907 |
| 86 | MP0003436_decreased_susceptibility_to | 0.15465647 |
| 87 | MP0002282_abnormal_trachea_morphology | 0.15156723 |
| 88 | MP0005193_abnormal_anterior_eye | 0.14302070 |
| 89 | MP0009333_abnormal_splenocyte_physiolog | 0.14034466 |
| 90 | MP0001299_abnormal_eye_distance/ | 0.14003299 |
| 91 | MP0001186_pigmentation_phenotype | 0.12788423 |
| 92 | MP0009384_cardiac_valve_regurgitation | 0.12073764 |
| 93 | MP0005375_adipose_tissue_phenotype | 0.11681462 |
| 94 | MP0000003_abnormal_adipose_tissue | 0.10910013 |
| 95 | MP0002295_abnormal_pulmonary_circulatio | 0.10696064 |
| 96 | MP0003045_fibrosis | 0.08932651 |
| 97 | MP0005508_abnormal_skeleton_morphology | 0.08754497 |
| 98 | MP0008569_lethality_at_weaning | 0.07970031 |
| 99 | MP0006138_congestive_heart_failure | 0.07683837 |
| 100 | MP0002233_abnormal_nose_morphology | 0.06547560 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Increased IgE level (HP:0003212) | 9.20026159 |
| 2 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 8.66767452 |
| 3 | Congenital ichthyosiform erythroderma (HP:0007431) | 8.49897359 |
| 4 | Onycholysis (HP:0001806) | 7.84787539 |
| 5 | Palmoplantar hyperkeratosis (HP:0000972) | 7.53106241 |
| 6 | Erythroderma (HP:0001019) | 7.36522853 |
| 7 | Palmar hyperkeratosis (HP:0010765) | 7.16526441 |
| 8 | Alopecia of scalp (HP:0002293) | 6.96667434 |
| 9 | Abnormality of the axillary hair (HP:0100134) | 6.48216031 |
| 10 | Abnormality of secondary sexual hair (HP:0009888) | 6.48216031 |
| 11 | Corneal erosion (HP:0200020) | 6.46821356 |
| 12 | Hypotrichosis (HP:0001006) | 6.29265126 |
| 13 | Plantar hyperkeratosis (HP:0007556) | 5.99794956 |
| 14 | Parakeratosis (HP:0001036) | 5.80499193 |
| 15 | Erythema (HP:0010783) | 5.70588195 |
| 16 | Oral leukoplakia (HP:0002745) | 5.66247048 |
| 17 | Thick nail (HP:0001805) | 5.24121475 |
| 18 | Ectropion (HP:0000656) | 5.05257578 |
| 19 | Hypohidrosis (HP:0000966) | 4.84094441 |
| 20 | Gangrene (HP:0100758) | 4.69353995 |
| 21 | Palmoplantar keratoderma (HP:0000982) | 4.38977591 |
| 22 | Right ventricular cardiomyopathy (HP:0011663) | 4.22872568 |
| 23 | Absent eyelashes (HP:0000561) | 3.94393990 |
| 24 | Woolly hair (HP:0002224) | 3.66695727 |
| 25 | Sparse eyelashes (HP:0000653) | 3.65876400 |
| 26 | Absent hair (HP:0002298) | 3.65248136 |
| 27 | Nail dystrophy (HP:0008404) | 3.64903999 |
| 28 | Pruritus (HP:0000989) | 3.31546251 |
| 29 | Conjunctival hamartoma (HP:0100780) | 3.13109220 |
| 30 | Lack of skin elasticity (HP:0100679) | 3.00830609 |
| 31 | Lip pit (HP:0100267) | 3.00371164 |
| 32 | Furrowed tongue (HP:0000221) | 2.88706238 |
| 33 | Follicular hyperkeratosis (HP:0007502) | 2.81319093 |
| 34 | Abnormality of the salivary glands (HP:0010286) | 2.80855086 |
| 35 | Autoamputation (HP:0001218) | 2.77459613 |
| 36 | Sparse scalp hair (HP:0002209) | 2.74783021 |
| 37 | Amniotic constriction ring (HP:0009775) | 2.74196651 |
| 38 | Abnormality of placental membranes (HP:0011409) | 2.74196651 |
| 39 | Fragile nails (HP:0001808) | 2.73463524 |
| 40 | Pustule (HP:0200039) | 2.70375048 |
| 41 | Abnormal blistering of the skin (HP:0008066) | 2.69606489 |
| 42 | Blepharitis (HP:0000498) | 2.63150405 |
| 43 | Eczematoid dermatitis (HP:0000976) | 2.50834306 |
| 44 | Hypergammaglobulinemia (HP:0010702) | 2.37832898 |
| 45 | Hypoplastic labia majora (HP:0000059) | 2.27036983 |
| 46 | Selective tooth agenesis (HP:0001592) | 2.20752735 |
| 47 | Paralysis (HP:0003470) | 2.14981038 |
| 48 | Abnormal hair laboratory examination (HP:0003328) | 2.11560642 |
| 49 | Hamartoma of the eye (HP:0010568) | 2.11358159 |
| 50 | Dehydration (HP:0001944) | 2.09510640 |
| 51 | Recurrent corneal erosions (HP:0000495) | 2.08404251 |
| 52 | Slow-growing hair (HP:0002217) | 2.08218529 |
| 53 | Abnormality of hair growth rate (HP:0011363) | 2.08218529 |
| 54 | Abnormality of the labia majora (HP:0012881) | 2.06368138 |
| 55 | Multifactorial inheritance (HP:0001426) | 2.04816518 |
| 56 | Abnormality of nail color (HP:0100643) | 12.9016320 |
| 57 | Urticaria (HP:0001025) | 1.99920753 |
| 58 | Split foot (HP:0001839) | 1.97239627 |
| 59 | Brittle hair (HP:0002299) | 1.95189733 |
| 60 | Sepsis (HP:0100806) | 1.94018238 |
| 61 | Laryngomalacia (HP:0001601) | 1.90332895 |
| 62 | Natal tooth (HP:0000695) | 1.90118815 |
| 63 | Curly hair (HP:0002212) | 1.79678770 |
| 64 | Melanocytic nevus (HP:0000995) | 1.79444297 |
| 65 | Septate vagina (HP:0001153) | 1.77418819 |
| 66 | Depressed nasal tip (HP:0000437) | 1.76426210 |
| 67 | Hyperhidrosis (HP:0000975) | 1.75801714 |
| 68 | Dry skin (HP:0000958) | 1.73742155 |
| 69 | Duplicated collecting system (HP:0000081) | 1.72458734 |
| 70 | Anhidrosis (HP:0000970) | 1.67938661 |
| 71 | Milia (HP:0001056) | 1.66766356 |
| 72 | Keratoconjunctivitis sicca (HP:0001097) | 1.66758456 |
| 73 | Advanced eruption of teeth (HP:0006288) | 1.65889464 |
| 74 | Hypoplastic toenails (HP:0001800) | 1.65187927 |
| 75 | Pili torti (HP:0003777) | 1.64277407 |
| 76 | Xerostomia (HP:0000217) | 1.64068174 |
| 77 | Ridged nail (HP:0001807) | 1.62140883 |
| 78 | Malignant hyperthermia (HP:0002047) | 1.59196910 |
| 79 | Breast hypoplasia (HP:0003187) | 1.58936139 |
| 80 | Anonychia (HP:0001798) | 1.57641261 |
| 81 | Fine hair (HP:0002213) | 1.56166200 |
| 82 | Carious teeth (HP:0000670) | 1.55758795 |
| 83 | Generalized hyperpigmentation (HP:0007440) | 1.54796194 |
| 84 | Skin ulcer (HP:0200042) | 1.53293985 |
| 85 | Recurrent bacterial skin infections (HP:0005406) | 1.51060806 |
| 86 | Acanthosis nigricans (HP:0000956) | 1.50830818 |
| 87 | Nasolacrimal duct obstruction (HP:0000579) | 1.50657223 |
| 88 | Conical tooth (HP:0000698) | 1.50210777 |
| 89 | Oligodontia (HP:0000677) | 1.50014516 |
| 90 | Keratoconjunctivitis (HP:0001096) | 1.49730904 |
| 91 | Preauricular skin tag (HP:0000384) | 1.46333660 |
| 92 | Abnormality of the renal collecting system (HP:0004742) | 1.45156210 |
| 93 | Abnormality of permanent molar morphology (HP:0011071) | 1.44115097 |
| 94 | Abnormality of the dental root (HP:0006486) | 1.44115097 |
| 95 | Taurodontia (HP:0000679) | 1.44115097 |
| 96 | Everted lower lip vermilion (HP:0000232) | 1.40416773 |
| 97 | Abnormality of the fingernails (HP:0001231) | 1.40358974 |
| 98 | Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173) | 1.40306709 |
| 99 | Abnormality of molar morphology (HP:0011070) | 1.39444509 |
| 100 | Abnormality of molar (HP:0011077) | 1.39444509 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TGFBR1 | 7.25912866 |
| 2 | FER | 3.31381173 |
| 3 | FGFR1 | 2.95736075 |
| 4 | STK24 | 2.81508356 |
| 5 | ERN1 | 2.79597924 |
| 6 | EPHA2 | 2.64007382 |
| 7 | MAP3K9 | 2.62510428 |
| 8 | MAP3K6 | 2.54845142 |
| 9 | MAP3K2 | 2.30637018 |
| 10 | RIPK1 | 2.30459907 |
| 11 | PIK3CG | 2.29989453 |
| 12 | MET | 2.09054729 |
| 13 | SGK494 | 2.05762745 |
| 14 | SGK223 | 2.05762745 |
| 15 | WNK1 | 2.01830109 |
| 16 | MAP3K3 | 1.91527243 |
| 17 | AKT3 | 1.90176169 |
| 18 | GRK6 | 1.83371975 |
| 19 | PDGFRA | 1.65935153 |
| 20 | LATS1 | 1.60418549 |
| 21 | MAPKAPK3 | 1.59033014 |
| 22 | PTK2 | 1.58020366 |
| 23 | EPHA3 | 1.48490727 |
| 24 | MAPK7 | 1.41652946 |
| 25 | TGFBR2 | 1.40216714 |
| 26 | FLT3 | 1.39065474 |
| 27 | EPHB1 | 1.38713062 |
| 28 | FGFR3 | 1.30929753 |
| 29 | EEF2K | 1.30508711 |
| 30 | CDK12 | 1.30094745 |
| 31 | IRAK1 | 1.26506485 |
| 32 | TRPM7 | 1.26036938 |
| 33 | DMPK | 1.18702227 |
| 34 | IKBKB | 1.17790249 |
| 35 | MYLK | 1.06184930 |
| 36 | SGK2 | 1.03759314 |
| 37 | MAP3K1 | 1.00925102 |
| 38 | NTRK1 | 1.00827074 |
| 39 | ADRBK1 | 0.99886282 |
| 40 | RPS6KB1 | 0.93893945 |
| 41 | STK38 | 0.88223510 |
| 42 | LATS2 | 0.88027602 |
| 43 | MAPK12 | 0.86108442 |
| 44 | SGK3 | 0.84607168 |
| 45 | MAP2K6 | 0.81566420 |
| 46 | STK3 | 0.78660403 |
| 47 | MAPKAPK2 | 0.78638429 |
| 48 | PDGFRB | 0.77233732 |
| 49 | NLK | 0.76794288 |
| 50 | MST1R | 0.74840891 |
| 51 | CDC42BPA | 0.73673978 |
| 52 | CAMK1G | 0.72215517 |
| 53 | PAK2 | 0.72095835 |
| 54 | PIM2 | 0.71114002 |
| 55 | TXK | 0.70291839 |
| 56 | MARK2 | 0.70253321 |
| 57 | MTOR | 0.67097862 |
| 58 | ZAP70 | 0.63430867 |
| 59 | TAOK1 | 0.63221246 |
| 60 | CAMK1D | 0.62045041 |
| 61 | MAP3K7 | 0.54098525 |
| 62 | MAPKAPK5 | 0.53829177 |
| 63 | GSK3A | 0.53342646 |
| 64 | BRD4 | 0.53027000 |
| 65 | JAK3 | 0.52581962 |
| 66 | FRK | 0.52078222 |
| 67 | GRK7 | 0.50813635 |
| 68 | PRKD2 | 0.50102012 |
| 69 | PRKCE | 0.48750976 |
| 70 | FGFR2 | 0.48428412 |
| 71 | BLK | 0.48383839 |
| 72 | IRAK2 | 0.47892381 |
| 73 | SGK1 | 0.47782928 |
| 74 | STK38L | 0.47705823 |
| 75 | DDR2 | 0.46616635 |
| 76 | MST4 | 0.45844350 |
| 77 | TAOK3 | 0.45350027 |
| 78 | MOS | 0.44861469 |
| 79 | ABL1 | 0.44083470 |
| 80 | ERBB4 | 0.43575944 |
| 81 | KIT | 0.43146523 |
| 82 | LRRK2 | 0.41135508 |
| 83 | SIK1 | 0.40416865 |
| 84 | PKN1 | 0.37464248 |
| 85 | PRKAA2 | 0.36809165 |
| 86 | IKBKE | 0.36690332 |
| 87 | MAP3K5 | 0.36073932 |
| 88 | ABL2 | 0.34576259 |
| 89 | MAPK4 | 0.32526000 |
| 90 | TYRO3 | 0.31980913 |
| 91 | FGFR4 | 0.31461024 |
| 92 | RPS6KA2 | 0.30808633 |
| 93 | RET | 0.30458603 |
| 94 | IRAK3 | 0.30418028 |
| 95 | CHUK | 0.29677382 |
| 96 | HIPK2 | 0.27486596 |
| 97 | ACVR1B | 0.26611954 |
| 98 | EPHB2 | 0.26358434 |
| 99 | KSR2 | 0.24988832 |
| 100 | CDK6 | 0.22075408 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 5.83950103 |
| 2 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 4.67013356 |
| 3 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 3.44679291 |
| 4 | Ether lipid metabolism_Homo sapiens_hsa00565 | 3.35146050 |
| 5 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 2.53656210 |
| 6 | GnRH signaling pathway_Homo sapiens_hsa04912 | 2.41171000 |
| 7 | Phototransduction_Homo sapiens_hsa04744 | 2.17822116 |
| 8 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 2.09296760 |
| 9 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 1.99890711 |
| 10 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 1.97787887 |
| 11 | VEGF signaling pathway_Homo sapiens_hsa04370 | 1.97345425 |
| 12 | Long-term depression_Homo sapiens_hsa04730 | 1.81041334 |
| 13 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.74041644 |
| 14 | Histidine metabolism_Homo sapiens_hsa00340 | 1.68006479 |
| 15 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 1.65526308 |
| 16 | Circadian rhythm_Homo sapiens_hsa04710 | 1.56391179 |
| 17 | Renin secretion_Homo sapiens_hsa04924 | 1.54486980 |
| 18 | Amoebiasis_Homo sapiens_hsa05146 | 1.52146122 |
| 19 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.49987703 |
| 20 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 1.39277128 |
| 21 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 1.38763470 |
| 22 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 1.37025727 |
| 23 | ABC transporters_Homo sapiens_hsa02010 | 1.32974586 |
| 24 | Glioma_Homo sapiens_hsa05214 | 1.29872711 |
| 25 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.29790538 |
| 26 | Ras signaling pathway_Homo sapiens_hsa04014 | 1.25742387 |
| 27 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.19891907 |
| 28 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 1.17168228 |
| 29 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 1.07787875 |
| 30 | Platelet activation_Homo sapiens_hsa04611 | 1.07409079 |
| 31 | Pertussis_Homo sapiens_hsa05133 | 1.04645946 |
| 32 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 1.04034495 |
| 33 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 1.01183801 |
| 34 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.97679561 |
| 35 | Melanogenesis_Homo sapiens_hsa04916 | 0.97529212 |
| 36 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.95007747 |
| 37 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.93961378 |
| 38 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.93349315 |
| 39 | Adherens junction_Homo sapiens_hsa04520 | 0.92169658 |
| 40 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.91782234 |
| 41 | Long-term potentiation_Homo sapiens_hsa04720 | 0.89803381 |
| 42 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.87648484 |
| 43 | Thyroid cancer_Homo sapiens_hsa05216 | 0.85603416 |
| 44 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.85258267 |
| 45 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.85118405 |
| 46 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.81382025 |
| 47 | Bladder cancer_Homo sapiens_hsa05219 | 0.79208845 |
| 48 | Fatty acid elongation_Homo sapiens_hsa00062 | 0.75633232 |
| 49 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.71086792 |
| 50 | Tuberculosis_Homo sapiens_hsa05152 | 0.69936078 |
| 51 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.69231612 |
| 52 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.69141068 |
| 53 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.64108871 |
| 54 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.56993532 |
| 55 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.56856731 |
| 56 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.56514089 |
| 57 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.56389041 |
| 58 | Salivary secretion_Homo sapiens_hsa04970 | 0.56324980 |
| 59 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.54671803 |
| 60 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.50962220 |
| 61 | Focal adhesion_Homo sapiens_hsa04510 | 0.50599191 |
| 62 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.50452496 |
| 63 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.50355472 |
| 64 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.50125086 |
| 65 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.48822070 |
| 66 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.48243456 |
| 67 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.48053501 |
| 68 | AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933 | 0.45343725 |
| 69 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.45196274 |
| 70 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.44618801 |
| 71 | Endocytosis_Homo sapiens_hsa04144 | 0.44592988 |
| 72 | Circadian entrainment_Homo sapiens_hsa04713 | 0.44568192 |
| 73 | Tight junction_Homo sapiens_hsa04530 | 0.44127961 |
| 74 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.44120833 |
| 75 | Malaria_Homo sapiens_hsa05144 | 0.42413676 |
| 76 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.42153208 |
| 77 | Protein digestion and absorption_Homo sapiens_hsa04974 | 0.41879586 |
| 78 | Axon guidance_Homo sapiens_hsa04360 | 0.41192992 |
| 79 | Pathways in cancer_Homo sapiens_hsa05200 | 0.39183226 |
| 80 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.39008664 |
| 81 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.38942423 |
| 82 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.38276629 |
| 83 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.38073042 |
| 84 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.36581333 |
| 85 | Olfactory transduction_Homo sapiens_hsa04740 | 0.36041294 |
| 86 | TNF signaling pathway_Homo sapiens_hsa04668 | 0.35931833 |
| 87 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.35911135 |
| 88 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.34755512 |
| 89 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.34707949 |
| 90 | Phagosome_Homo sapiens_hsa04145 | 0.34246018 |
| 91 | Regulation of actin cytoskeleton_Homo sapiens_hsa04810 | 0.33943294 |
| 92 | Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261 | 0.33523846 |
| 93 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.31840838 |
| 94 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.31590441 |
| 95 | Gap junction_Homo sapiens_hsa04540 | 0.31103053 |
| 96 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.30869260 |
| 97 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.30640266 |
| 98 | Hepatitis C_Homo sapiens_hsa05160 | 0.30580381 |
| 99 | Salmonella infection_Homo sapiens_hsa05132 | 0.30355085 |
| 100 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.30321952 |

