

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | water homeostasis (GO:0030104) | 9.53368536 |
| 2 | keratinocyte proliferation (GO:0043616) | 9.02241485 |
| 3 | peptide cross-linking (GO:0018149) | 8.94758794 |
| 4 | epidermal cell differentiation (GO:0009913) | 8.91888761 |
| 5 | long-chain fatty acid biosynthetic process (GO:0042759) | 8.71698339 |
| 6 | molting cycle (GO:0042303) | 8.13703880 |
| 7 | hair cycle (GO:0042633) | 8.13703880 |
| 8 | epidermis development (GO:0008544) | 7.74647678 |
| 9 | skin morphogenesis (GO:0043589) | 7.50864721 |
| 10 | linoleic acid metabolic process (GO:0043651) | 7.24118130 |
| 11 | lipoxygenase pathway (GO:0019372) | 7.22188722 |
| 12 | detection of bacterium (GO:0016045) | 7.11049141 |
| 13 | bundle of His cell to Purkinje myocyte communication (GO:0086069) | 6.94817340 |
| 14 | detection of other organism (GO:0098543) | 6.52046583 |
| 15 | intermediate filament organization (GO:0045109) | 5.74590130 |
| 16 | phosphatidylinositol acyl-chain remodeling (GO:0036149) | 5.57307586 |
| 17 | phosphatidylserine acyl-chain remodeling (GO:0036150) | 5.54831044 |
| 18 | regulation of natural killer cell differentiation (GO:0032823) | 5.53094935 |
| 19 | intermediate filament cytoskeleton organization (GO:0045104) | 5.08909227 |
| 20 | surfactant homeostasis (GO:0043129) | 4.98045322 |
| 21 | intermediate filament-based process (GO:0045103) | 4.93199550 |
| 22 | negative regulation of interferon-gamma production (GO:0032689) | 4.81365075 |
| 23 | phosphatidylethanolamine acyl-chain remodeling (GO:0036152) | 4.50067554 |
| 24 | keratinocyte development (GO:0003334) | 4.38472917 |
| 25 | gap junction assembly (GO:0016264) | 4.27674263 |
| 26 | chemical homeostasis within a tissue (GO:0048875) | 4.25350702 |
| 27 | hemidesmosome assembly (GO:0031581) | 4.24786374 |
| 28 | phosphatidylglycerol acyl-chain remodeling (GO:0036148) | 4.22724775 |
| 29 | establishment of tissue polarity (GO:0007164) | 4.03544144 |
| 30 | establishment of planar polarity (GO:0001736) | 4.03544144 |
| 31 | ectoderm development (GO:0007398) | 4.03100682 |
| 32 | phosphatidylcholine acyl-chain remodeling (GO:0036151) | 4.01039087 |
| 33 | ceramide biosynthetic process (GO:0046513) | 3.89470319 |
| 34 | lateral sprouting from an epithelium (GO:0060601) | 3.86566494 |
| 35 | detection of external biotic stimulus (GO:0098581) | 3.74570924 |
| 36 | polarized epithelial cell differentiation (GO:0030859) | 3.69614456 |
| 37 | phospholipid efflux (GO:0033700) | 3.68219174 |
| 38 | epithelium development (GO:0060429) | 3.66288641 |
| 39 | positive regulation of cholesterol efflux (GO:0010875) | 3.64502391 |
| 40 | fatty acid elongation (GO:0030497) | 3.53518228 |
| 41 | positive regulation of monocyte chemotaxis (GO:0090026) | 3.49055801 |
| 42 | negative regulation of interleukin-17 production (GO:0032700) | 3.44542837 |
| 43 | phosphatidylserine metabolic process (GO:0006658) | 3.43110319 |
| 44 | epithelial cell differentiation involved in prostate gland development (GO:0060742) | 3.43059715 |
| 45 | negative regulation of keratinocyte proliferation (GO:0010839) | 3.24680830 |
| 46 | regulation of keratinocyte differentiation (GO:0045616) | 3.24537433 |
| 47 | detection of biotic stimulus (GO:0009595) | 3.19363072 |
| 48 | positive regulation of sterol transport (GO:0032373) | 3.16676505 |
| 49 | positive regulation of cholesterol transport (GO:0032376) | 3.16676505 |
| 50 | positive regulation of epidermal cell differentiation (GO:0045606) | 3.04248066 |
| 51 | positive regulation of epidermis development (GO:0045684) | 3.01824420 |
| 52 | positive regulation of T cell chemotaxis (GO:0010820) | 3.00365042 |
| 53 | regulation of T cell chemotaxis (GO:0010819) | 3.00365042 |
| 54 | * keratinization (GO:0031424) | 28.1494893 |
| 55 | establishment of skin barrier (GO:0061436) | 21.0922651 |
| 56 | phospholipid catabolic process (GO:0009395) | 2.95959806 |
| 57 | sequestering of metal ion (GO:0051238) | 2.87342103 |
| 58 | defense response to fungus (GO:0050832) | 2.85681847 |
| 59 | regulation of keratinocyte proliferation (GO:0010837) | 2.84330492 |
| 60 | hair follicle morphogenesis (GO:0031069) | 2.83573439 |
| 61 | alditol phosphate metabolic process (GO:0052646) | 2.76566228 |
| 62 | regulation of natural killer cell activation (GO:0032814) | 2.71963852 |
| 63 | ventricular cardiac muscle cell action potential (GO:0086005) | 2.64273492 |
| 64 | one-carbon compound transport (GO:0019755) | 2.62649094 |
| 65 | regulation of epidermis development (GO:0045682) | 2.62623468 |
| 66 | regulation of protein localization to cell surface (GO:2000008) | 2.61579910 |
| 67 | sphingolipid biosynthetic process (GO:0030148) | 2.60791774 |
| 68 | eyelid development in camera-type eye (GO:0061029) | 2.60113315 |
| 69 | regulation of monocyte chemotaxis (GO:0090025) | 2.59545026 |
| 70 | defense response to Gram-negative bacterium (GO:0050829) | 2.56730722 |
| 71 | regulation of epidermal cell differentiation (GO:0045604) | 2.54532556 |
| 72 | regulation of neuron projection regeneration (GO:0070570) | 2.49770438 |
| 73 | regulation of axon regeneration (GO:0048679) | 2.49770438 |
| 74 | planar cell polarity pathway involved in neural tube closure (GO:0090179) | 2.48607944 |
| 75 | positive regulation of cellular amide metabolic process (GO:0034250) | 2.46483038 |
| 76 | polyol transport (GO:0015791) | 2.43706091 |
| 77 | epithelial cell differentiation (GO:0030855) | 2.43674333 |
| 78 | regulation of establishment of planar polarity involved in neural tube closure (GO:0090178) | 2.43559889 |
| 79 | regulation of transforming growth factor beta1 production (GO:0032908) | 2.42408103 |
| 80 | skin development (GO:0043588) | 2.37956064 |
| 81 | positive regulation of keratinocyte differentiation (GO:0045618) | 2.34663104 |
| 82 | phosphatidylglycerol metabolic process (GO:0046471) | 2.31850809 |
| 83 | regulation of heart rate by cardiac conduction (GO:0086091) | 2.31787394 |
| 84 | regulation of cholesterol efflux (GO:0010874) | 2.30528359 |
| 85 | unsaturated fatty acid biosynthetic process (GO:0006636) | 2.28601073 |
| 86 | epithelial cell proliferation (GO:0050673) | 2.23892335 |
| 87 | atrioventricular valve morphogenesis (GO:0003181) | 2.23590017 |
| 88 | antimicrobial humoral response (GO:0019730) | 2.20114654 |
| 89 | molting cycle process (GO:0022404) | 2.17747588 |
| 90 | hair cycle process (GO:0022405) | 2.17747588 |
| 91 | intestinal epithelial cell development (GO:0060576) | 2.14538230 |
| 92 | cell communication involved in cardiac conduction (GO:0086065) | 2.14531668 |
| 93 | fibrinolysis (GO:0042730) | 2.13224710 |
| 94 | regulation of cholesterol homeostasis (GO:2000188) | 2.12091048 |
| 95 | epithelial cell-cell adhesion (GO:0090136) | 2.06427927 |
| 96 | response to phenylpropanoid (GO:0080184) | 2.04057062 |
| 97 | regulation of water loss via skin (GO:0033561) | 18.1036965 |
| 98 | desmosome organization (GO:0002934) | 11.6990876 |
| 99 | keratinocyte differentiation (GO:0030216) | 11.4797260 |
| 100 | multicellular organismal water homeostasis (GO:0050891) | 11.4589490 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse | 5.59454885 |
| 2 | P63_26484246_Chip-Seq_KERATINOCYTES_Human | 4.35401368 |
| 3 | CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human | 3.50898613 |
| 4 | PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse | 2.97298626 |
| 5 | SMAD4_19686287_ChIP-ChIP_HaCaT_Human | 2.70299559 |
| 6 | SOX9_24532713_ChIP-Seq_HFSC_Mouse | 2.45704839 |
| 7 | HIF1A_21447827_ChIP-Seq_MCF-7_Human | 2.37377660 |
| 8 | SMAD3_18955504_ChIP-ChIP_HaCaT_Human | 2.36081554 |
| 9 | SMAD2_18955504_ChIP-ChIP_HaCaT_Human | 2.36081554 |
| 10 | TP63_23658742_ChIP-Seq_EP156T_Human | 2.22883831 |
| 11 | TP63_17297297_ChIP-ChIP_HaCaT_Human | 13.2979119 |
| 12 | RXR_22108803_ChIP-Seq_LS180_Human | 1.96962532 |
| 13 | TP63_22573176_ChIP-Seq_HFKS_Human | 1.90657152 |
| 14 | GATA6_21074721_ChIP-Seq_CACO-2_Mouse | 1.89502337 |
| 15 | ESR1_21235772_ChIP-Seq_MCF-7_Human | 1.84961412 |
| 16 | ESR2_21235772_ChIP-Seq_MCF-7_Human | 1.80215536 |
| 17 | FOXO3_23340844_ChIP-Seq_DLD1_Human | 1.70482395 |
| 18 | ZNF217_24962896_ChIP-Seq_MCF-7_Human | 1.69131498 |
| 19 | TFAP2C_20629094_ChIP-Seq_MCF-7_Human | 1.61279784 |
| 20 | EGR1_19032775_ChIP-ChIP_M12_Human | 1.60711652 |
| 21 | * GATA6_21074721_ChIP-Seq_CACO-2_Human | 1.50974682 |
| 22 | CTCF_27219007_Chip-Seq_Bcells_Human | 1.41770791 |
| 23 | VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human | 1.35587987 |
| 24 | NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse | 1.33977983 |
| 25 | AR_21572438_ChIP-Seq_LNCaP_Human | 1.33445110 |
| 26 | ERG_20517297_ChIP-Seq_VCAP_Human | 1.29226850 |
| 27 | STAT6_21828071_ChIP-Seq_BEAS2B_Human | 1.26254070 |
| 28 | UBF1/2_26484160_Chip-Seq_HMECs_Human | 1.24684671 |
| 29 | KLF5_25053715_ChIP-Seq_YYC3_Human | 1.23662184 |
| 30 | GATA3_24758297_ChIP-Seq_MCF-7_Human | 1.23465478 |
| 31 | TCF4_18268006_ChIP-ChIP_LS174T_Human | 1.20418851 |
| 32 | KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human | 1.19057367 |
| 33 | CJUN_26792858_Chip-Seq_BT549_Human | 1.13532163 |
| 34 | ATF3_27146783_Chip-Seq_COLON_Human | 1.13062060 |
| 35 | SOX2_20726797_ChIP-Seq_SW620_Human | 1.12867509 |
| 36 | ESR1_20079471_ChIP-ChIP_T-47D_Human | 1.12069813 |
| 37 | RUNX1_27514584_Chip-Seq_MCF-7_Human | 1.05490298 |
| 38 | ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human | 1.04724195 |
| 39 | TP53_18474530_ChIP-ChIP_U2OS_Human | 1.04590784 |
| 40 | AHR_22903824_ChIP-Seq_MCF-7_Human | 1.04105344 |
| 41 | CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse | 1.02531676 |
| 42 | RARG_19884340_ChIP-ChIP_MEFs_Mouse | 1.00480570 |
| 43 | CTCF_20526341_ChIP-Seq_ESCs_Human | 0.99877273 |
| 44 | KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.99329463 |
| 45 | RACK7_27058665_Chip-Seq_MCF-7_Human | 0.98791080 |
| 46 | DNAJC2_21179169_ChIP-ChIP_NT2_Human | 0.95936661 |
| 47 | ZNF263_19887448_ChIP-Seq_K562_Human | 0.95849744 |
| 48 | FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human | 0.94643183 |
| 49 | SMAD2/3_21741376_ChIP-Seq_ESCs_Human | 0.93998425 |
| 50 | STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse | 0.93240471 |
| 51 | FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.91995162 |
| 52 | BMI1_19503595_ChIP-Seq_MEFsC_Mouse | 0.91007749 |
| 53 | JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.90268600 |
| 54 | UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human | 0.90238299 |
| 55 | SOX2_27498859_Chip-Seq_STOMACH_Mouse | 0.90172781 |
| 56 | P63_20808887_ChIP-Seq_KERATINOCYTES_Human | 0.90164292 |
| 57 | * E2F1_20622854_ChIP-Seq_HELA_Human | 0.90008479 |
| 58 | * BCOR_27268052_Chip-Seq_Bcells_Human | 0.88208492 |
| 59 | AR_21915096_ChIP-Seq_LNCaP-1F5_Human | 0.87813593 |
| 60 | CDX2_21074721_ChIP-Seq_CACO-2_Mouse | 0.85941303 |
| 61 | PPAR_26484153_Chip-Seq_NCI-H1993_Human | 0.85298430 |
| 62 | SMC4_20622854_ChIP-Seq_HELA_Human | 0.85196927 |
| 63 | FOXO1_23066095_ChIP-Seq_LIVER_Mouse | 0.82022333 |
| 64 | ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human | 0.81872104 |
| 65 | RBPJ_21746931_ChIP-Seq_IB4_Human | 0.80674418 |
| 66 | SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse | 0.80313848 |
| 67 | * P53_21459846_ChIP-Seq_SAOS-2_Human | 0.80269320 |
| 68 | FOXM1_26456572_ChIP-Seq_MCF-7_Human | 0.79623189 |
| 69 | SMAD4_21741376_ChIP-Seq_ESCs_Human | 0.78458844 |
| 70 | BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human | 0.78232504 |
| 71 | YY1_22570637_ChIP-Seq_MALME-3M_Human | 0.77415040 |
| 72 | ARNT_22903824_ChIP-Seq_MCF-7_Human | 0.77011513 |
| 73 | * HNFA_21074721_ChIP-Seq_CACO-2_Human | 0.75928074 |
| 74 | GATA4_25053715_ChIP-Seq_YYC3_Human | 0.75743350 |
| 75 | NRF2_20460467_ChIP-Seq_MEFs_Mouse | 0.74584768 |
| 76 | NFE2L2_20460467_ChIP-Seq_MEFs_Mouse | 0.74584768 |
| 77 | CREB1_26743006_Chip-Seq_LNCaP-abl_Human | 0.74297382 |
| 78 | CLOCK_20551151_ChIP-Seq_293T_Human | 0.73614025 |
| 79 | GATA6_25053715_ChIP-Seq_YYC3_Human | 0.72707321 |
| 80 | CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human | 0.72264831 |
| 81 | * GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human | 0.71685207 |
| 82 | TP53_16413492_ChIP-PET_HCT116_Human | 0.70954823 |
| 83 | JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human | 0.70490452 |
| 84 | P53_22127205_ChIP-Seq_FIBROBLAST_Human | 0.68299070 |
| 85 | MNX1_26342078_ChIP-Seq_MIN6-4N_Mouse | 0.67362928 |
| 86 | PIAS1_25552417_ChIP-Seq_VCAP_Human | 0.67280885 |
| 87 | Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse | 0.67149780 |
| 88 | GATA2_19941826_ChIP-Seq_K562_Human | 0.64902477 |
| 89 | PPARG_20176806_ChIP-Seq_3T3-L1_Mouse | 0.64874295 |
| 90 | TCF4_22108803_ChIP-Seq_LS180_Human | 0.64696307 |
| 91 | FOXA1_25552417_ChIP-Seq_VCAP_Human | 0.63102310 |
| 92 | * TAF2_19829295_ChIP-Seq_ESCs_Human | 0.62759593 |
| 93 | SA1_27219007_Chip-Seq_ERYTHROID_Human | 0.62521592 |
| 94 | LXR_22292898_ChIP-Seq_THP-1_Human | 0.62339643 |
| 95 | CEBPA_26348894_ChIP-Seq_LIVER_Mouse | 0.62271631 |
| 96 | SUZ12_27294783_Chip-Seq_ESCs_Mouse | 0.61788498 |
| 97 | TBX20_22080862_ChIP-Seq_HEART_Mouse | 0.60553209 |
| 98 | TBX20_22328084_ChIP-Seq_HEART_Mouse | 0.60553209 |
| 99 | PPARA_22158963_ChIP-Seq_LIVER_Mouse | 0.60183562 |
| 100 | SMAD3_21741376_ChIP-Seq_HESCs_Human | 0.59323122 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | MP0005275_abnormal_skin_tensile | 7.72742933 |
| 2 | MP0005501_abnormal_skin_physiology | 5.76349501 |
| 3 | MP0000579_abnormal_nail_morphology | 4.79486274 |
| 4 | MP0010234_abnormal_vibrissa_follicle | 4.52387413 |
| 5 | MP0003941_abnormal_skin_development | 3.95763755 |
| 6 | MP0009379_abnormal_foot_pigmentation | 3.41103157 |
| 7 | MP0001216_abnormal_epidermal_layer | 3.24562043 |
| 8 | MP0003453_abnormal_keratinocyte_physiol | 2.93457944 |
| 9 | MP0010771_integument_phenotype | 2.87778777 |
| 10 | MP0004947_skin_inflammation | 2.80568982 |
| 11 | MP0003191_abnormal_cellular_cholesterol | 2.64452414 |
| 12 | MP0002060_abnormal_skin_morphology | 2.58107432 |
| 13 | MP0004381_abnormal_hair_follicle | 2.46827315 |
| 14 | MP0010678_abnormal_skin_adnexa | 2.39956833 |
| 15 | MP0001188_hyperpigmentation | 2.29966205 |
| 16 | MP0000377_abnormal_hair_follicle | 2.20334232 |
| 17 | MP0000383_abnormal_hair_follicle | 2.19327248 |
| 18 | MP0004885_abnormal_endolymph | 2.17107558 |
| 19 | MP0005377_hearing/vestibular/ear_phenot | 2.12838350 |
| 20 | MP0003878_abnormal_ear_physiology | 2.12838350 |
| 21 | MP0002098_abnormal_vibrissa_morphology | 2.06565215 |
| 22 | MP0002796_impaired_skin_barrier | 10.4701568 |
| 23 | MP0004782_abnormal_surfactant_physiolog | 1.94491288 |
| 24 | MP0003705_abnormal_hypodermis_morpholog | 1.84934132 |
| 25 | MP0000566_synostosis | 1.83912797 |
| 26 | MP0005409_darkened_coat_color | 1.81397714 |
| 27 | MP0009931_abnormal_skin_appearance | 1.78152464 |
| 28 | MP0000647_abnormal_sebaceous_gland | 1.77578549 |
| 29 | MP0000467_abnormal_esophagus_morphology | 1.73368475 |
| 30 | MP0001191_abnormal_skin_condition | 1.54910741 |
| 31 | MP0002095_abnormal_skin_pigmentation | 1.52806387 |
| 32 | MP0003011_delayed_dark_adaptation | 1.48878098 |
| 33 | MP0003566_abnormal_cell_adhesion | 1.29201113 |
| 34 | MP0000367_abnormal_coat/_hair | 1.26262536 |
| 35 | MP0000427_abnormal_hair_cycle | 1.24277343 |
| 36 | MP0010352_gastrointestinal_tract_polyps | 1.23862505 |
| 37 | MP0000015_abnormal_ear_pigmentation | 1.18395943 |
| 38 | MP0004264_abnormal_extraembryonic_tissu | 1.15733610 |
| 39 | MP0005174_abnormal_tail_pigmentation | 1.11100896 |
| 40 | MP0000465_gastrointestinal_hemorrhage | 1.09950333 |
| 41 | MP0000762_abnormal_tongue_morphology | 1.08872898 |
| 42 | MP0001784_abnormal_fluid_regulation | 0.93933077 |
| 43 | MP0001243_abnormal_dermal_layer | 0.91853857 |
| 44 | MP0005023_abnormal_wound_healing | 0.80841102 |
| 45 | MP0009053_abnormal_anal_canal | 0.80542697 |
| 46 | MP0001851_eye_inflammation | 0.74081643 |
| 47 | MP0002177_abnormal_outer_ear | 0.71740165 |
| 48 | MP0002234_abnormal_pharynx_morphology | 0.55755766 |
| 49 | MP0004185_abnormal_adipocyte_glucose | 0.47482573 |
| 50 | MP0005075_abnormal_melanosome_morpholog | 0.47198124 |
| 51 | MP0001340_abnormal_eyelid_morphology | 0.42565280 |
| 52 | MP0009780_abnormal_chondrocyte_physiolo | 0.40308090 |
| 53 | MP0003950_abnormal_plasma_membrane | 0.39039659 |
| 54 | MP0010030_abnormal_orbit_morphology | 0.38522527 |
| 55 | MP0001177_atelectasis | 0.38152440 |
| 56 | MP0005503_abnormal_tendon_morphology | 0.36910760 |
| 57 | MP0003315_abnormal_perineum_morphology | 0.36468532 |
| 58 | MP0003763_abnormal_thymus_physiology | 0.35686558 |
| 59 | MP0002138_abnormal_hepatobiliary_system | 0.34469920 |
| 60 | MP0008789_abnormal_olfactory_epithelium | 0.33405495 |
| 61 | MP0002009_preneoplasia | 0.32432394 |
| 62 | MP0008004_abnormal_stomach_pH | 0.32057108 |
| 63 | MP0001984_abnormal_olfaction | 0.31896666 |
| 64 | MP0005388_respiratory_system_phenotype | 0.31774134 |
| 65 | MP0002133_abnormal_respiratory_system | 0.31774134 |
| 66 | MP0003638_abnormal_response/metabolism_ | 0.30503984 |
| 67 | MP0005394_taste/olfaction_phenotype | 0.29208477 |
| 68 | MP0005499_abnormal_olfactory_system | 0.29208477 |
| 69 | MP0009333_abnormal_splenocyte_physiolog | 0.28703905 |
| 70 | MP0000627_abnormal_mammary_gland | 0.26969563 |
| 71 | MP0002111_abnormal_tail_morphology | 0.26965692 |
| 72 | MP0004197_abnormal_fetal_growth/weight/ | 0.24374585 |
| 73 | MP0000569_abnormal_digit_pigmentation | 0.23783485 |
| 74 | MP0009672_abnormal_birth_weight | 0.23063507 |
| 75 | MP0008438_abnormal_cutaneous_collagen | 0.20615072 |
| 76 | MP0002282_abnormal_trachea_morphology | 0.20338320 |
| 77 | MP0001186_pigmentation_phenotype | 0.20315712 |
| 78 | MP0003755_abnormal_palate_morphology | 0.19162082 |
| 79 | MP0005257_abnormal_intraocular_pressure | 0.18544776 |
| 80 | MP0000685_abnormal_immune_system | 0.18095689 |
| 81 | MP0002697_abnormal_eye_size | 0.17813724 |
| 82 | MP0001485_abnormal_pinna_reflex | 0.17711481 |
| 83 | MP0002877_abnormal_melanocyte_morpholog | 0.15726733 |
| 84 | MP0003300_gastrointestinal_ulcer | 0.15041161 |
| 85 | MP0005076_abnormal_cell_differentiation | 0.13749480 |
| 86 | MP0000428_abnormal_craniofacial_morphol | 0.13671736 |
| 87 | MP0002233_abnormal_nose_morphology | 0.13660254 |
| 88 | MP0005666_abnormal_adipose_tissue | 0.13001260 |
| 89 | MP0005193_abnormal_anterior_eye | 0.12798976 |
| 90 | MP0005375_adipose_tissue_phenotype | 0.12775457 |
| 91 | MP0000432_abnormal_head_morphology | 0.12520280 |
| 92 | MP0004043_abnormal_pH_regulation | 0.12380309 |
| 93 | MP0003828_pulmonary_edema | 0.09283007 |
| 94 | MP0008569_lethality_at_weaning | 0.09166022 |
| 95 | MP0001299_abnormal_eye_distance/ | 0.09160282 |
| 96 | MP0005508_abnormal_skeleton_morphology | 0.08748428 |
| 97 | MP0004272_abnormal_basement_membrane | 0.08482084 |
| 98 | MP0005171_absent_coat_pigmentation | 0.08149467 |
| 99 | MP0001958_emphysema | 0.08075069 |
| 100 | MP0002006_tumorigenesis | 0.06011170 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | Increased IgE level (HP:0003212) | 9.61028427 |
| 2 | Congenital ichthyosiform erythroderma (HP:0007431) | 8.45264039 |
| 3 | Palmoplantar hyperkeratosis (HP:0000972) | 8.25403958 |
| 4 | Congenital nonbullous ichthyosiform erythroderma (HP:0007479) | 8.20237342 |
| 5 | Erythroderma (HP:0001019) | 7.92174620 |
| 6 | Palmar hyperkeratosis (HP:0010765) | 7.85298975 |
| 7 | Onycholysis (HP:0001806) | 6.93742417 |
| 8 | Plantar hyperkeratosis (HP:0007556) | 6.69165773 |
| 9 | Hypotrichosis (HP:0001006) | 6.63483616 |
| 10 | Alopecia of scalp (HP:0002293) | 6.60774439 |
| 11 | Erythema (HP:0010783) | 6.41439389 |
| 12 | Abnormality of the axillary hair (HP:0100134) | 6.09962345 |
| 13 | Abnormality of secondary sexual hair (HP:0009888) | 6.09962345 |
| 14 | Parakeratosis (HP:0001036) | 5.86995092 |
| 15 | Corneal erosion (HP:0200020) | 5.86101254 |
| 16 | Thick nail (HP:0001805) | 5.76055871 |
| 17 | Oral leukoplakia (HP:0002745) | 5.43038509 |
| 18 | Gangrene (HP:0100758) | 4.52556988 |
| 19 | Palmoplantar keratoderma (HP:0000982) | 4.51734306 |
| 20 | Ectropion (HP:0000656) | 4.41390074 |
| 21 | Conjunctival hamartoma (HP:0100780) | 4.40702828 |
| 22 | Hypohidrosis (HP:0000966) | 4.39919283 |
| 23 | Right ventricular cardiomyopathy (HP:0011663) | 4.26239373 |
| 24 | Woolly hair (HP:0002224) | 4.20568969 |
| 25 | Absent eyelashes (HP:0000561) | 3.63262106 |
| 26 | Nail dystrophy (HP:0008404) | 3.59554345 |
| 27 | Sparse eyelashes (HP:0000653) | 3.55902692 |
| 28 | Fragile nails (HP:0001808) | 3.46984682 |
| 29 | Abnormal blistering of the skin (HP:0008066) | 3.29760577 |
| 30 | Lip pit (HP:0100267) | 3.21988384 |
| 31 | Absent hair (HP:0002298) | 3.21801580 |
| 32 | Pruritus (HP:0000989) | 3.16545658 |
| 33 | Abnormality of the salivary glands (HP:0010286) | 3.08284482 |
| 34 | Eczematoid dermatitis (HP:0000976) | 3.04594372 |
| 35 | Sparse scalp hair (HP:0002209) | 3.01117804 |
| 36 | Hamartoma of the eye (HP:0010568) | 2.95568799 |
| 37 | Follicular hyperkeratosis (HP:0007502) | 2.85460040 |
| 38 | Lack of skin elasticity (HP:0100679) | 2.67340566 |
| 39 | Furrowed tongue (HP:0000221) | 2.59311633 |
| 40 | Abnormal hair laboratory examination (HP:0003328) | 2.57660935 |
| 41 | Blepharitis (HP:0000498) | 2.47747244 |
| 42 | Hypergammaglobulinemia (HP:0010702) | 2.46884771 |
| 43 | Pili torti (HP:0003777) | 2.45011612 |
| 44 | Pustule (HP:0200039) | 2.42409592 |
| 45 | Hypoplastic labia majora (HP:0000059) | 2.28501377 |
| 46 | Autoamputation (HP:0001218) | 2.21943196 |
| 47 | Abnormality of placental membranes (HP:0011409) | 2.20032634 |
| 48 | Amniotic constriction ring (HP:0009775) | 2.20032634 |
| 49 | Natal tooth (HP:0000695) | 2.17472418 |
| 50 | Slow-growing hair (HP:0002217) | 2.13184960 |
| 51 | Abnormality of hair growth rate (HP:0011363) | 2.13184960 |
| 52 | Abnormality of the labia majora (HP:0012881) | 2.07854834 |
| 53 | Dehydration (HP:0001944) | 2.05694360 |
| 54 | Milia (HP:0001056) | 2.04359075 |
| 55 | Selective tooth agenesis (HP:0001592) | 2.04065957 |
| 56 | Laryngomalacia (HP:0001601) | 2.02626983 |
| 57 | Hyperhidrosis (HP:0000975) | 2.01999698 |
| 58 | Brittle hair (HP:0002299) | 2.01120019 |
| 59 | Split foot (HP:0001839) | 2.00825493 |
| 60 | Melanocytic nevus (HP:0000995) | 2.00783052 |
| 61 | Abnormality of nail color (HP:0100643) | 11.8589920 |
| 62 | Advanced eruption of teeth (HP:0006288) | 1.95172296 |
| 63 | Ridged nail (HP:0001807) | 1.90133156 |
| 64 | Recurrent corneal erosions (HP:0000495) | 1.84880339 |
| 65 | Multifactorial inheritance (HP:0001426) | 1.83646292 |
| 66 | Paralysis (HP:0003470) | 1.80243780 |
| 67 | Urticaria (HP:0001025) | 1.79444872 |
| 68 | Dry skin (HP:0000958) | 1.78728586 |
| 69 | Duplicated collecting system (HP:0000081) | 1.78307416 |
| 70 | Sepsis (HP:0100806) | 1.74647097 |
| 71 | Septate vagina (HP:0001153) | 1.74531204 |
| 72 | Curly hair (HP:0002212) | 1.74383294 |
| 73 | Depressed nasal tip (HP:0000437) | 1.73156810 |
| 74 | Acanthosis nigricans (HP:0000956) | 1.72211619 |
| 75 | Conical tooth (HP:0000698) | 1.71186047 |
| 76 | Xerostomia (HP:0000217) | 1.71012958 |
| 77 | Anonychia (HP:0001798) | 1.70800488 |
| 78 | Skin ulcer (HP:0200042) | 1.69437484 |
| 79 | Nasolacrimal duct obstruction (HP:0000579) | 1.68076415 |
| 80 | Hamartoma (HP:0010566) | 1.67327715 |
| 81 | Abnormality of the dental root (HP:0006486) | 1.65785591 |
| 82 | Taurodontia (HP:0000679) | 1.65785591 |
| 83 | Abnormality of permanent molar morphology (HP:0011071) | 1.65785591 |
| 84 | Corneal dystrophy (HP:0001131) | 1.57280625 |
| 85 | Abnormality of molar morphology (HP:0011070) | 1.57211948 |
| 86 | Abnormality of molar (HP:0011077) | 1.57211948 |
| 87 | Fine hair (HP:0002213) | 1.53695683 |
| 88 | Anhidrosis (HP:0000970) | 1.53608654 |
| 89 | Carious teeth (HP:0000670) | 1.52268014 |
| 90 | Abnormality of the renal collecting system (HP:0004742) | 1.51246172 |
| 91 | Oligodontia (HP:0000677) | 1.48499000 |
| 92 | Abnormality of the dental pulp (HP:0006479) | 1.48117103 |
| 93 | Breast hypoplasia (HP:0003187) | 1.44719306 |
| 94 | Ventricular tachycardia (HP:0004756) | 1.43270307 |
| 95 | Abnormality of the fingernails (HP:0001231) | 1.41583207 |
| 96 | Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204) | 1.39678445 |
| 97 | Papilloma (HP:0012740) | 1.39264904 |
| 98 | Verrucae (HP:0200043) | 1.39264904 |
| 99 | Keratoconjunctivitis sicca (HP:0001097) | 1.39036162 |
| 100 | Axonal loss (HP:0003447) | 1.36993747 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | TGFBR1 | 6.29786016 |
| 2 | STK24 | 3.72426306 |
| 3 | MAP3K6 | 3.63641010 |
| 4 | EPHA2 | 3.52462197 |
| 5 | FGFR1 | 3.50212367 |
| 6 | FER | 3.34303301 |
| 7 | EEF2K | 3.09291065 |
| 8 | MAPKAPK3 | 2.88019923 |
| 9 | SGK494 | 2.57577188 |
| 10 | SGK223 | 2.57577188 |
| 11 | MAP3K2 | 2.24542245 |
| 12 | RIPK1 | 2.19626252 |
| 13 | MAP3K9 | 2.17910401 |
| 14 | ERN1 | 2.02516275 |
| 15 | FGFR3 | 2.02024582 |
| 16 | MAP3K3 | 1.84710043 |
| 17 | PIK3CG | 1.77582037 |
| 18 | EPHA3 | 1.76290539 |
| 19 | LATS1 | 1.65848541 |
| 20 | WNK1 | 1.53703078 |
| 21 | GRK6 | 1.52276563 |
| 22 | TRPM7 | 1.46969794 |
| 23 | MET | 1.46694742 |
| 24 | MAPK7 | 1.39277591 |
| 25 | IRAK1 | 1.31990126 |
| 26 | EPHB1 | 1.29714500 |
| 27 | MST1R | 1.26937060 |
| 28 | MAP3K1 | 1.16115641 |
| 29 | IKBKB | 1.14636137 |
| 30 | MAPK12 | 1.13997758 |
| 31 | MAP2K6 | 1.13170801 |
| 32 | PTK2 | 1.12402772 |
| 33 | MAPKAPK5 | 1.10429293 |
| 34 | CDK12 | 1.08123934 |
| 35 | SGK2 | 1.04873174 |
| 36 | MARK2 | 0.99888498 |
| 37 | AKT3 | 0.98781350 |
| 38 | TGFBR2 | 0.98564908 |
| 39 | STK3 | 0.94268075 |
| 40 | RPS6KB1 | 0.92496843 |
| 41 | NLK | 0.90025505 |
| 42 | MAP3K7 | 0.89627961 |
| 43 | PRPF4B | 0.88333743 |
| 44 | PDGFRA | 0.87544526 |
| 45 | ADRBK1 | 0.86383981 |
| 46 | FGFR2 | 0.86233678 |
| 47 | DMPK | 0.86215245 |
| 48 | LATS2 | 0.84653821 |
| 49 | SGK3 | 0.82558011 |
| 50 | RPS6KB2 | 0.79558967 |
| 51 | GSK3A | 0.74090759 |
| 52 | MAPKAPK2 | 0.73301653 |
| 53 | TAOK1 | 0.71382042 |
| 54 | STK38L | 0.70692882 |
| 55 | PIM2 | 0.67174571 |
| 56 | IRAK2 | 0.65018639 |
| 57 | MST4 | 0.63711408 |
| 58 | PRKD2 | 0.63087611 |
| 59 | SGK1 | 0.62831435 |
| 60 | MTOR | 0.61768024 |
| 61 | ABL2 | 0.56609094 |
| 62 | PRKAA2 | 0.55995356 |
| 63 | PDGFRB | 0.55514178 |
| 64 | KIT | 0.52401049 |
| 65 | FGFR4 | 0.50927707 |
| 66 | STK38 | 0.49310423 |
| 67 | MAP2K4 | 0.45991899 |
| 68 | EPHB2 | 0.45576370 |
| 69 | IKBKE | 0.44131813 |
| 70 | FLT3 | 0.43956449 |
| 71 | LRRK2 | 0.43255236 |
| 72 | PKN1 | 0.40211266 |
| 73 | JAK3 | 0.39448091 |
| 74 | CDC42BPA | 0.36950229 |
| 75 | PBK | 0.36884175 |
| 76 | PRKCE | 0.34966090 |
| 77 | RET | 0.34759942 |
| 78 | ABL1 | 0.33909493 |
| 79 | TAOK3 | 0.33902223 |
| 80 | BRD4 | 0.33757172 |
| 81 | EPHA4 | 0.32984240 |
| 82 | GRK7 | 0.31733300 |
| 83 | BMX | 0.31351892 |
| 84 | SIK1 | 0.31113575 |
| 85 | MINK1 | 0.31006737 |
| 86 | CDK6 | 0.30889345 |
| 87 | MOS | 0.30756279 |
| 88 | MAPK4 | 0.30702151 |
| 89 | PAK2 | 0.30613358 |
| 90 | HIPK2 | 0.29675038 |
| 91 | MYLK | 0.26595966 |
| 92 | IRAK4 | 0.24608356 |
| 93 | KSR2 | 0.23289092 |
| 94 | MAP3K5 | 0.23243432 |
| 95 | MAPK9 | 0.22749700 |
| 96 | TYRO3 | 0.21596537 |
| 97 | BCR | 0.21375032 |
| 98 | GRK5 | 0.21293003 |
| 99 | MAP3K12 | 0.21164807 |
| 100 | RPS6KA2 | 0.20158482 |

| Rank | Gene Set | Z-score |
|---|---|---|
| 1 | alpha-Linolenic acid metabolism_Homo sapiens_hsa00592 | 6.53923134 |
| 2 | Linoleic acid metabolism_Homo sapiens_hsa00591 | 5.09628680 |
| 3 | Ether lipid metabolism_Homo sapiens_hsa00565 | 3.62863825 |
| 4 | Arachidonic acid metabolism_Homo sapiens_hsa00590 | 3.49849875 |
| 5 | Sphingolipid metabolism_Homo sapiens_hsa00600 | 2.60309527 |
| 6 | GnRH signaling pathway_Homo sapiens_hsa04912 | 2.36435273 |
| 7 | Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524 | 2.22009667 |
| 8 | Phototransduction_Homo sapiens_hsa04744 | 2.16261804 |
| 9 | Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750 | 2.09406310 |
| 10 | Ovarian steroidogenesis_Homo sapiens_hsa04913 | 1.95505514 |
| 11 | VEGF signaling pathway_Homo sapiens_hsa04370 | 1.92952819 |
| 12 | Histidine metabolism_Homo sapiens_hsa00340 | 1.89777868 |
| 13 | Circadian rhythm_Homo sapiens_hsa04710 | 1.79545987 |
| 14 | Long-term depression_Homo sapiens_hsa04730 | 1.70262898 |
| 15 | Vascular smooth muscle contraction_Homo sapiens_hsa04270 | 1.69945274 |
| 16 | Staphylococcus aureus infection_Homo sapiens_hsa05150 | 1.61571573 |
| 17 | Fc epsilon RI signaling pathway_Homo sapiens_hsa04664 | 1.59754572 |
| 18 | Renin secretion_Homo sapiens_hsa04924 | 1.42126685 |
| 19 | Glycerophospholipid metabolism_Homo sapiens_hsa00564 | 1.41986566 |
| 20 | Fatty acid elongation_Homo sapiens_hsa00062 | 1.39522423 |
| 21 | Serotonergic synapse_Homo sapiens_hsa04726 | 1.36238361 |
| 22 | Choline metabolism in cancer_Homo sapiens_hsa05231 | 1.27917147 |
| 23 | Ras signaling pathway_Homo sapiens_hsa04014 | 1.25930378 |
| 24 | Dorso-ventral axis formation_Homo sapiens_hsa04320 | 1.25154810 |
| 25 | Amoebiasis_Homo sapiens_hsa05146 | 1.23015546 |
| 26 | Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666 | 1.14126425 |
| 27 | Phosphatidylinositol signaling system_Homo sapiens_hsa04070 | 1.13062514 |
| 28 | Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412 | 1.06390623 |
| 29 | Glioma_Homo sapiens_hsa05214 | 1.04360230 |
| 30 | ABC transporters_Homo sapiens_hsa02010 | 1.01955519 |
| 31 | Sphingolipid signaling pathway_Homo sapiens_hsa04071 | 0.97240921 |
| 32 | Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960 | 0.94935370 |
| 33 | Pertussis_Homo sapiens_hsa05133 | 0.91223218 |
| 34 | Platelet activation_Homo sapiens_hsa04611 | 0.90847669 |
| 35 | Oxytocin signaling pathway_Homo sapiens_hsa04921 | 0.90767977 |
| 36 | Acute myeloid leukemia_Homo sapiens_hsa05221 | 0.89486652 |
| 37 | Melanogenesis_Homo sapiens_hsa04916 | 0.83537397 |
| 38 | Long-term potentiation_Homo sapiens_hsa04720 | 0.82912447 |
| 39 | Phospholipase D signaling pathway_Homo sapiens_hsa04072 | 0.82618194 |
| 40 | Fat digestion and absorption_Homo sapiens_hsa04975 | 0.77218079 |
| 41 | Phenylalanine metabolism_Homo sapiens_hsa00360 | 0.77172086 |
| 42 | Adherens junction_Homo sapiens_hsa04520 | 0.75687216 |
| 43 | Neurotrophin signaling pathway_Homo sapiens_hsa04722 | 0.75395851 |
| 44 | MicroRNAs in cancer_Homo sapiens_hsa05206 | 0.75377596 |
| 45 | Estrogen signaling pathway_Homo sapiens_hsa04915 | 0.74313063 |
| 46 | Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962 | 0.73967766 |
| 47 | ECM-receptor interaction_Homo sapiens_hsa04512 | 0.73563378 |
| 48 | Gastric acid secretion_Homo sapiens_hsa04971 | 0.72563132 |
| 49 | p53 signaling pathway_Homo sapiens_hsa04115 | 0.70403302 |
| 50 | Glutamatergic synapse_Homo sapiens_hsa04724 | 0.66988512 |
| 51 | Thyroid cancer_Homo sapiens_hsa05216 | 0.60984229 |
| 52 | Retinol metabolism_Homo sapiens_hsa00830 | 0.60960111 |
| 53 | NOD-like receptor signaling pathway_Homo sapiens_hsa04621 | 0.59275190 |
| 54 | Tuberculosis_Homo sapiens_hsa05152 | 0.59018443 |
| 55 | Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321 | 0.57459098 |
| 56 | Renal cell carcinoma_Homo sapiens_hsa05211 | 0.57131258 |
| 57 | Salivary secretion_Homo sapiens_hsa04970 | 0.55915601 |
| 58 | Bladder cancer_Homo sapiens_hsa05219 | 0.55447555 |
| 59 | MAPK signaling pathway_Homo sapiens_hsa04010 | 0.54298527 |
| 60 | Rap1 signaling pathway_Homo sapiens_hsa04015 | 0.54261259 |
| 61 | Aldosterone synthesis and secretion_Homo sapiens_hsa04925 | 0.54142399 |
| 62 | Pancreatic secretion_Homo sapiens_hsa04972 | 0.53842243 |
| 63 | Inositol phosphate metabolism_Homo sapiens_hsa00562 | 0.48223366 |
| 64 | Tight junction_Homo sapiens_hsa04530 | 0.47970754 |
| 65 | Endocytosis_Homo sapiens_hsa04144 | 0.47493510 |
| 66 | Insulin signaling pathway_Homo sapiens_hsa04910 | 0.47187579 |
| 67 | Proteoglycans in cancer_Homo sapiens_hsa05205 | 0.46262953 |
| 68 | Notch signaling pathway_Homo sapiens_hsa04330 | 0.45644456 |
| 69 | Circadian entrainment_Homo sapiens_hsa04713 | 0.44510159 |
| 70 | Hedgehog signaling pathway_Homo sapiens_hsa04340 | 0.43309564 |
| 71 | beta-Alanine metabolism_Homo sapiens_hsa00410 | 0.43038574 |
| 72 | PPAR signaling pathway_Homo sapiens_hsa03320 | 0.42964990 |
| 73 | Amphetamine addiction_Homo sapiens_hsa05031 | 0.41297288 |
| 74 | Arginine biosynthesis_Homo sapiens_hsa00220 | 0.40703864 |
| 75 | Glucagon signaling pathway_Homo sapiens_hsa04922 | 0.39378340 |
| 76 | ErbB signaling pathway_Homo sapiens_hsa04012 | 0.38182256 |
| 77 | Axon guidance_Homo sapiens_hsa04360 | 0.36817144 |
| 78 | Hepatitis C_Homo sapiens_hsa05160 | 0.36117560 |
| 79 | Jak-STAT signaling pathway_Homo sapiens_hsa04630 | 0.35785193 |
| 80 | cAMP signaling pathway_Homo sapiens_hsa04024 | 0.33770395 |
| 81 | Olfactory transduction_Homo sapiens_hsa04740 | 0.33178201 |
| 82 | Pathways in cancer_Homo sapiens_hsa05200 | 0.32535735 |
| 83 | Calcium signaling pathway_Homo sapiens_hsa04020 | 0.31696406 |
| 84 | Toxoplasmosis_Homo sapiens_hsa05145 | 0.31370258 |
| 85 | Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060 | 0.31249472 |
| 86 | Basal cell carcinoma_Homo sapiens_hsa05217 | 0.30433622 |
| 87 | cGMP-PKG signaling pathway_Homo sapiens_hsa04022 | 0.30010451 |
| 88 | Bacterial invasion of epithelial cells_Homo sapiens_hsa05100 | 0.29769549 |
| 89 | Hippo signaling pathway_Homo sapiens_hsa04390 | 0.29294642 |
| 90 | Dopaminergic synapse_Homo sapiens_hsa04728 | 0.28897744 |
| 91 | Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923 | 0.28737710 |
| 92 | Malaria_Homo sapiens_hsa05144 | 0.28364524 |
| 93 | Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550 | 0.27937946 |
| 94 | HIF-1 signaling pathway_Homo sapiens_hsa04066 | 0.27626975 |
| 95 | Central carbon metabolism in cancer_Homo sapiens_hsa05230 | 0.26417785 |
| 96 | TGF-beta signaling pathway_Homo sapiens_hsa04350 | 0.26031076 |
| 97 | Steroid hormone biosynthesis_Homo sapiens_hsa00140 | 0.25795721 |
| 98 | Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120 | 0.25778701 |
| 99 | Thyroid hormone signaling pathway_Homo sapiens_hsa04919 | 0.25367079 |
| 100 | Pancreatic cancer_Homo sapiens_hsa05212 | 0.24907040 |

