ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	water homeostasis (GO:0030104)	8.75759124
2	hair cycle (GO:0042633)	8.62822237
3	molting cycle (GO:0042303)	8.62822237
4	epidermal cell differentiation (GO:0009913)	8.47201268
5	peptide cross-linking (GO:0018149)	7.87671304
6	bundle of His cell to Purkinje myocyte communication (GO:0086069)	7.69219876
7	epidermis development (GO:0008544)	7.07256744
8	long-chain fatty acid biosynthetic process (GO:0042759)	6.70260579
9	keratinocyte development (GO:0003334)	6.29216669
10	intermediate filament organization (GO:0045109)	6.09321011
11	gap junction assembly (GO:0016264)	5.99803931
12	lateral sprouting from an epithelium (GO:0060601)	5.60310810
13	linoleic acid metabolic process (GO:0043651)	5.53196014
14	hemidesmosome assembly (GO:0031581)	5.47170056
15	phosphatidylinositol acyl-chain remodeling (GO:0036149)	5.41269227
16	polarized epithelial cell differentiation (GO:0030859)	5.38664950
17	phosphatidylserine acyl-chain remodeling (GO:0036150)	5.28141222
18	lipoxygenase pathway (GO:0019372)	5.15998658
19	skin morphogenesis (GO:0043589)	5.07929219
20	establishment of planar polarity (GO:0001736)	4.91953735
21	establishment of tissue polarity (GO:0007164)	4.91953735
22	epithelial cell differentiation involved in prostate gland development (GO:0060742)	4.88168741
23	intermediate filament cytoskeleton organization (GO:0045104)	4.77029264
24	intermediate filament-based process (GO:0045103)	4.61711849
25	detection of bacterium (GO:0016045)	4.56246622
26	fatty acid elongation (GO:0030497)	4.36154237
27	phosphatidylethanolamine acyl-chain remodeling (GO:0036152)	4.30336279
28	detection of other organism (GO:0098543)	4.14502164
29	phosphatidylglycerol acyl-chain remodeling (GO:0036148)	4.03278530
30	regulation of keratinocyte differentiation (GO:0045616)	3.89733242
31	intestinal epithelial cell development (GO:0060576)	3.86333251
32	phosphatidylcholine acyl-chain remodeling (GO:0036151)	3.84324529
33	surfactant homeostasis (GO:0043129)	3.75850373
34	hair follicle morphogenesis (GO:0031069)	3.70770865
35	negative regulation of interferon-gamma production (GO:0032689)	3.63783821
36	epithelium development (GO:0060429)	3.50353304
37	regulation of natural killer cell differentiation (GO:0032823)	3.43706513
38	chemical homeostasis within a tissue (GO:0048875)	3.43436180
39	ectoderm development (GO:0007398)	3.40209293
40	regulation of glomerular filtration (GO:0003093)	3.31797296
41	regulation of keratinocyte proliferation (GO:0010837)	3.31557941
42	endothelium development (GO:0003158)	3.24727449
43	negative regulation of keratinocyte proliferation (GO:0010839)	3.23726611
44	phosphatidylserine metabolic process (GO:0006658)	3.16149205
45	phospholipid catabolic process (GO:0009395)	3.14421192
46	eyelid development in camera-type eye (GO:0061029)	3.09823317
47	regulation of transforming growth factor beta1 production (GO:0032908)	3.08460594
48	negative regulation of cardiac muscle tissue growth (GO:0055022)	3.05284253
49	negative regulation of heart growth (GO:0061117)	3.05284253
50	ceramide biosynthetic process (GO:0046513)	3.04372211
51	keratinization (GO:0031424)	20.2753207
52	molting cycle process (GO:0022404)	2.95151495
53	hair cycle process (GO:0022405)	2.95151495
54	positive regulation of cholesterol efflux (GO:0010875)	2.91560591
55	genitalia morphogenesis (GO:0035112)	2.91528523
56	regulation of axon regeneration (GO:0048679)	2.90806231
57	regulation of neuron projection regeneration (GO:0070570)	2.90806231
58	ventricular cardiac muscle cell action potential (GO:0086005)	2.90386229
59	epithelial cell maturation (GO:0002070)	2.89147660
60	polyol transport (GO:0015791)	2.88560478
61	skeletal muscle tissue regeneration (GO:0043403)	2.88464438
62	regulation of cholesterol homeostasis (GO:2000188)	2.87333878
63	imidazole-containing compound metabolic process (GO:0052803)	2.86474136
64	phospholipid efflux (GO:0033700)	2.85727344
65	regulation of epidermis development (GO:0045682)	2.80325823
66	positive regulation of monocyte chemotaxis (GO:0090026)	2.79925727
67	positive regulation of T cell chemotaxis (GO:0010820)	2.78951805
68	regulation of T cell chemotaxis (GO:0010819)	2.78951805
69	negative regulation of epidermal cell differentiation (GO:0045605)	2.78519174
70	regulation of tight junction assembly (GO:2000810)	2.77669989
71	one-carbon compound transport (GO:0019755)	2.76408429
72	regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)	2.66636891
73	regulation of epidermal cell differentiation (GO:0045604)	2.65886262
74	cardiac muscle cell action potential involved in contraction (GO:0086002)	2.63115464
75	hair cell differentiation (GO:0035315)	2.60619053
76	purine ribonucleotide transport (GO:0015868)	2.58640175
77	alditol phosphate metabolic process (GO:0052646)	2.57621066
78	negative regulation of cell aging (GO:0090344)	2.56857100
79	positive regulation of cholesterol transport (GO:0032376)	2.56699472
80	positive regulation of sterol transport (GO:0032373)	2.56699472
81	cardiac muscle cell action potential (GO:0086001)	2.56099919
82	regulation of heart rate by cardiac conduction (GO:0086091)	2.55846299
83	atrial cardiac muscle cell action potential (GO:0086014)	2.55757473
84	epithelial cell proliferation (GO:0050673)	2.53115458
85	adenine nucleotide transport (GO:0051503)	2.52787555
86	positive regulation of epidermal cell differentiation (GO:0045606)	2.52028212
87	magnesium ion transport (GO:0015693)	2.48989780
88	renal system process involved in regulation of blood volume (GO:0001977)	2.48676262
89	sympathetic nervous system development (GO:0048485)	2.47356874
90	smooth muscle tissue development (GO:0048745)	2.47178293
91	mitotic G1 DNA damage checkpoint (GO:0031571)	2.46829044
92	negative regulation of epidermis development (GO:0045683)	2.45708427
93	negative regulation of interleukin-17 production (GO:0032700)	2.45422244
94	defense response to fungus (GO:0050832)	2.43771120
95	establishment of skin barrier (GO:0061436)	19.5825114
96	regulation of water loss via skin (GO:0033561)	16.7417423
97	desmosome organization (GO:0002934)	14.2301543
98	keratinocyte differentiation (GO:0030216)	10.8076450
99	multicellular organismal water homeostasis (GO:0050891)	10.5003037
100	keratinocyte proliferation (GO:0043616)	10.1895585

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	6.09679442
2	P63_26484246_Chip-Seq_KERATINOCYTES_Human	3.66260733
3	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	2.65293787
4	SOX9_24532713_ChIP-Seq_HFSC_Mouse	2.64856111
5	* TP63_23658742_ChIP-Seq_EP156T_Human	2.24465284
6	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	2.21548697
7	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	2.21548697
8	ZNF217_24962896_ChIP-Seq_MCF-7_Human	2.15189292
9	CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human	2.06285227
10	TP63_17297297_ChIP-ChIP_HaCaT_Human	13.6423924
11	RXR_22108803_ChIP-Seq_LS180_Human	1.90968048
12	FOXO3_23340844_ChIP-Seq_DLD1_Human	1.86902012
13	HIF1A_21447827_ChIP-Seq_MCF-7_Human	1.81089709
14	EGR1_19032775_ChIP-ChIP_M12_Human	1.62174626
15	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	1.61129188
16	AHR_22903824_ChIP-Seq_MCF-7_Human	1.49295997
17	ESR2_21235772_ChIP-Seq_MCF-7_Human	1.45247314
18	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.37227274
19	NRF2_20460467_ChIP-Seq_MEFs_Mouse	1.37081060
20	NFE2L2_20460467_ChIP-Seq_MEFs_Mouse	1.37081060
21	* TP63_22573176_ChIP-Seq_HFKS_Human	1.34985601
22	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.34123032
23	NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse	1.32056386
24	AR_21572438_ChIP-Seq_LNCaP_Human	1.28365873
25	* CJUN_26792858_Chip-Seq_BT549_Human	1.28292458
26	TP53_18474530_ChIP-ChIP_U2OS_Human	1.27674542
27	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.24505232
28	GATA3_24758297_ChIP-Seq_MCF-7_Human	1.23224158
29	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	1.23089606
30	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.22916748
31	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.21944414
32	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	1.19158214
33	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.18439645
34	SOX2_20726797_ChIP-Seq_SW620_Human	1.18306933
35	CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human	1.15401508
36	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.14724508
37	KLF5_25053715_ChIP-Seq_YYC3_Human	1.10383736
38	STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse	1.09380548
39	FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human	1.08061835
40	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.07326549
41	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.05124519
42	GATA6_21074721_ChIP-Seq_CACO-2_Human	1.04019181
43	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	1.02324506
44	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.02149050
45	GATA1_22025678_ChIP-Seq_K562_Human	1.01751401
46	TP53_16413492_ChIP-PET_HCT116_Human	1.00531125
47	UBF1/2_26484160_Chip-Seq_HMECs_Human	0.98385077
48	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.96815721
49	SOX2_27498859_Chip-Seq_STOMACH_Mouse	0.96245095
50	KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	0.93880035
51	GATA4_25053715_ChIP-Seq_YYC3_Human	0.93618092
52	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	0.93055097
53	* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	0.92634770
54	PPAR_26484153_Chip-Seq_NCI-H1993_Human	0.92361730
55	ZNF263_19887448_ChIP-Seq_K562_Human	0.90726964
56	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	0.90610217
57	RUNX1_27514584_Chip-Seq_MCF-7_Human	0.89906368
58	CDX2_22108803_ChIP-Seq_LS180_Human	0.89005892
59	TCF4_22108803_ChIP-Seq_LS180_Human	0.88630138
60	P53_22127205_ChIP-Seq_FIBROBLAST_Human	0.88230126
61	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	0.88168105
62	VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human	0.87565991
63	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	0.85879562
64	Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse	0.85273969
65	PPARG_20176806_ChIP-Seq_3T3-L1_Mouse	0.83707728
66	KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	0.82472564
67	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	0.80504435
68	PCGF2_27294783_Chip-Seq_NPCs_Mouse	0.80272980
69	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	0.79338739
70	SMAD4_21799915_ChIP-Seq_A2780_Human	0.78534610
71	ERG_20517297_ChIP-Seq_VCAP_Human	0.76376499
72	HTT_18923047_ChIP-ChIP_STHdh_Human	0.74402371
73	SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse	0.72795320
74	FOXA1_25552417_ChIP-Seq_VCAP_Human	0.72743786
75	TCF3_18467660_ChIP-ChIP_MESCs_Mouse	0.72448927
76	SMAD3_21741376_ChIP-Seq_EPCs_Human	0.71830231
77	GATA6_25053715_ChIP-Seq_YYC3_Human	0.70070407
78	AR_25329375_ChIP-Seq_VCAP_Human	0.69889729
79	BMI1_19503595_ChIP-Seq_MEFsC_Mouse	0.69535935
80	* POU3F2_20337985_ChIP-ChIP_501MEL_Human	0.69174434
81	ESR1_22446102_ChIP-Seq_UTERUS_Mouse	0.68692471
82	CLOCK_20551151_ChIP-Seq_293T_Human	0.68112398
83	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	0.66991675
84	SMAD3_21741376_ChIP-Seq_HESCs_Human	0.66278445
85	RBPJ_21746931_ChIP-Seq_IB4_Human	0.66046254
86	NR3C1_21868756_ChIP-Seq_MCF10A_Human	0.66015415
87	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	0.65804959
88	HNFA_21074721_ChIP-Seq_CACO-2_Human	0.65137300
89	TAF15_26573619_Chip-Seq_HEK293_Human	0.64781648
90	P53_21459846_ChIP-Seq_SAOS-2_Human	0.64054536
91	WT1_25993318_ChIP-Seq_PODOCYTE_Human	0.63589088
92	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.63428980
93	FOXA1_26743006_Chip-Seq_LNCaP-abl_Human	0.63332785
94	ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human	0.63312324
95	ATF3_27146783_Chip-Seq_COLON_Human	0.62471797
96	* FUS_26573619_Chip-Seq_HEK293_Human	0.62277980
97	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	0.62276824
98	TBX20_22328084_ChIP-Seq_HEART_Mouse	0.61646582
99	TBX20_22080862_ChIP-Seq_HEART_Mouse	0.61646582
100	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	0.61639292

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0002796_impaired_skin_barrier	9.40264940
2	MP0005275_abnormal_skin_tensile	7.20617746
3	MP0010234_abnormal_vibrissa_follicle	5.33351911
4	MP0005501_abnormal_skin_physiology	5.15124421
5	MP0009379_abnormal_foot_pigmentation	4.67421938
6	MP0000579_abnormal_nail_morphology	4.35850100
7	MP0001216_abnormal_epidermal_layer	3.19234221
8	MP0003453_abnormal_keratinocyte_physiol	3.15269397
9	MP0003941_abnormal_skin_development	3.07319461
10	MP0004381_abnormal_hair_follicle	2.92607641
11	MP0010678_abnormal_skin_adnexa	2.90311360
12	MP0010771_integument_phenotype	2.73051401
13	MP0001188_hyperpigmentation	2.70061737
14	MP0000383_abnormal_hair_follicle	2.64415760
15	MP0002060_abnormal_skin_morphology	2.57835347
16	MP0004947_skin_inflammation	2.54326456
17	MP0000566_synostosis	2.37693085
18	MP0000377_abnormal_hair_follicle	2.19216588
19	MP0002098_abnormal_vibrissa_morphology	2.10777517
20	MP0002095_abnormal_skin_pigmentation	1.97848125
21	MP0000647_abnormal_sebaceous_gland	1.96847040
22	MP0003191_abnormal_cellular_cholesterol	1.85940414
23	MP0003705_abnormal_hypodermis_morpholog	1.78076725
24	MP0003878_abnormal_ear_physiology	1.77133890
25	MP0005377_hearing/vestibular/ear_phenot	1.77133890
26	MP0004782_abnormal_surfactant_physiolog	1.76492247
27	MP0000015_abnormal_ear_pigmentation	1.73677321
28	MP0004885_abnormal_endolymph	1.71037358
29	MP0005409_darkened_coat_color	1.68894826
30	MP0005174_abnormal_tail_pigmentation	1.65587968
31	MP0009931_abnormal_skin_appearance	1.62631927
32	MP0000427_abnormal_hair_cycle	1.56510466
33	MP0001191_abnormal_skin_condition	1.46287349
34	MP0000467_abnormal_esophagus_morphology	1.45798945
35	MP0000367_abnormal_coat/_hair	1.37981718
36	MP0003011_delayed_dark_adaptation	1.32962898
37	MP0003566_abnormal_cell_adhesion	1.22898161
38	MP0002009_preneoplasia	1.16247612
39	MP0000465_gastrointestinal_hemorrhage	1.08794872
40	MP0004264_abnormal_extraembryonic_tissu	1.01330623
41	MP0000762_abnormal_tongue_morphology	0.98222032
42	MP0009384_cardiac_valve_regurgitation	0.97562493
43	MP0010352_gastrointestinal_tract_polyps	0.92183273
44	MP0001243_abnormal_dermal_layer	0.88615310
45	MP0005171_absent_coat_pigmentation	0.88241844
46	MP0001851_eye_inflammation	0.87802171
47	MP0001784_abnormal_fluid_regulation	0.84431227
48	MP0002177_abnormal_outer_ear	0.83623681
49	MP0005075_abnormal_melanosome_morpholog	0.81178112
50	MP0008438_abnormal_cutaneous_collagen	0.78336369
51	MP0000569_abnormal_digit_pigmentation	0.78315075
52	MP0002877_abnormal_melanocyte_morpholog	0.75937870
53	MP0005503_abnormal_tendon_morphology	0.73133429
54	MP0005023_abnormal_wound_healing	0.72642846
55	MP0001984_abnormal_olfaction	0.67926889
56	MP0009053_abnormal_anal_canal	0.57464075
57	MP0000428_abnormal_craniofacial_morphol	0.55928193
58	MP0003279_aneurysm	0.55867705
59	MP0009780_abnormal_chondrocyte_physiolo	0.55051440
60	MP0004185_abnormal_adipocyte_glucose	0.53129552
61	MP0001853_heart_inflammation	0.52424951
62	MP0003950_abnormal_plasma_membrane	0.51553528
63	MP0001542_abnormal_bone_strength	0.47939940
64	MP0001340_abnormal_eyelid_morphology	0.47491931
65	MP0003763_abnormal_thymus_physiology	0.47152440
66	MP0002166_altered_tumor_susceptibility	0.43919027
67	MP0010030_abnormal_orbit_morphology	0.41690305
68	MP0000372_irregular_coat_pigmentation	0.40668480
69	MP0002282_abnormal_trachea_morphology	0.38603068
70	MP0000627_abnormal_mammary_gland	0.37683697
71	MP0002006_tumorigenesis	0.34398594
72	MP0001186_pigmentation_phenotype	0.33799596
73	MP0005388_respiratory_system_phenotype	0.31895664
74	MP0002133_abnormal_respiratory_system	0.31895664
75	MP0005197_abnormal_uvea_morphology	0.31695956
76	MP0003638_abnormal_response/metabolism_	0.31552062
77	MP0001299_abnormal_eye_distance/	0.30803552
78	MP0002111_abnormal_tail_morphology	0.29713248
79	MP0001177_atelectasis	0.28725021
80	MP0002233_abnormal_nose_morphology	0.28330987
81	MP0008789_abnormal_olfactory_epithelium	0.28043244
82	MP0008004_abnormal_stomach_pH	0.27263862
83	MP0000462_abnormal_digestive_system	0.27161728
84	MP0005508_abnormal_skeleton_morphology	0.25165571
85	MP0002234_abnormal_pharynx_morphology	0.24736576
86	MP0000432_abnormal_head_morphology	0.24299995
87	MP0003828_pulmonary_edema	0.24028896
88	MP0009333_abnormal_splenocyte_physiolog	0.23602888
89	MP0000750_abnormal_muscle_regeneration	0.23505979
90	MP0009672_abnormal_birth_weight	0.23367210
91	MP0000371_diluted_coat_color	0.23090436
92	MP0005193_abnormal_anterior_eye	0.22835492
93	MP0005257_abnormal_intraocular_pressure	0.22120414
94	MP0003300_gastrointestinal_ulcer	0.21868731
95	MP0003755_abnormal_palate_morphology	0.21094106
96	MP0005647_abnormal_sex_gland	0.19990487
97	MP0005499_abnormal_olfactory_system	0.19906945
98	MP0005394_taste/olfaction_phenotype	0.19906945
99	MP0004197_abnormal_fetal_growth/weight/	0.19116858
100	MP0006138_congestive_heart_failure	0.16528366

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of nail color (HP:0100643)	9.29333980
2	Increased IgE level (HP:0003212)	8.35944636
3	Palmoplantar hyperkeratosis (HP:0000972)	7.70349592
4	Palmar hyperkeratosis (HP:0010765)	7.38532756
5	Abnormality of secondary sexual hair (HP:0009888)	7.37291353
6	Abnormality of the axillary hair (HP:0100134)	7.37291353
7	Congenital ichthyosiform erythroderma (HP:0007431)	6.67916012
8	Plantar hyperkeratosis (HP:0007556)	6.43051461
9	Alopecia of scalp (HP:0002293)	6.27465056
10	Onycholysis (HP:0001806)	6.11008228
11	* Erythroderma (HP:0001019)	6.05144897
12	Congenital nonbullous ichthyosiform erythroderma (HP:0007479)	6.02497478
13	Thick nail (HP:0001805)	5.76749728
14	Erythema (HP:0010783)	5.66867623
15	* Hypotrichosis (HP:0001006)	5.59758164
16	Corneal erosion (HP:0200020)	4.98298516
17	Conjunctival hamartoma (HP:0100780)	4.77327409
18	Woolly hair (HP:0002224)	4.62772390
19	Right ventricular cardiomyopathy (HP:0011663)	4.55499856
20	Parakeratosis (HP:0001036)	4.40602356
21	Fragile nails (HP:0001808)	4.21130289
22	Oral leukoplakia (HP:0002745)	3.89105279
23	* Palmoplantar keratoderma (HP:0000982)	3.83746320
24	Sparse scalp hair (HP:0002209)	3.70898633
25	Absent eyelashes (HP:0000561)	3.65221343
26	Selective tooth agenesis (HP:0001592)	3.59633962
27	Hypohidrosis (HP:0000966)	3.55502402
28	Gangrene (HP:0100758)	3.51768022
29	Eczematoid dermatitis (HP:0000976)	3.47811745
30	Sparse eyelashes (HP:0000653)	3.44518733
31	Ectropion (HP:0000656)	3.35585304
32	Nail dystrophy (HP:0008404)	3.32671377
33	Aplasia involving bones of the extremities (HP:0009825)	3.30352676
34	Aplasia involving bones of the upper limbs (HP:0009823)	3.30352676
35	Aplasia of the phalanges of the hand (HP:0009802)	3.30352676
36	Lip pit (HP:0100267)	3.21653388
37	Abnormality of the salivary glands (HP:0010286)	3.21445167
38	Hamartoma of the eye (HP:0010568)	3.19492081
39	Absent hair (HP:0002298)	3.13950769
40	Abnormal blistering of the skin (HP:0008066)	3.13299546
41	Dry hair (HP:0011359)	2.97002745
42	Slow-growing hair (HP:0002217)	2.95788658
43	Abnormality of hair growth rate (HP:0011363)	2.95788658
44	Abnormal hair laboratory examination (HP:0003328)	2.95777733
45	Hypoplastic labia majora (HP:0000059)	2.89607439
46	Abnormality of permanent molar morphology (HP:0011071)	2.75945774
47	Abnormality of the dental root (HP:0006486)	2.75945774
48	Taurodontia (HP:0000679)	2.75945774
49	Duplicated collecting system (HP:0000081)	2.67380935
50	Abnormality of the labia majora (HP:0012881)	2.64125855
51	Split foot (HP:0001839)	2.62415674
52	Abnormality of molar morphology (HP:0011070)	2.61031241
53	Abnormality of molar (HP:0011077)	2.61031241
54	Pili torti (HP:0003777)	2.60156066
55	Nasolacrimal duct obstruction (HP:0000579)	2.58783979
56	Pruritus (HP:0000989)	2.48359891
57	Milia (HP:0001056)	2.46401177
58	Abnormality of the dental pulp (HP:0006479)	2.45950565
59	Melanocytic nevus (HP:0000995)	2.35014003
60	Blepharitis (HP:0000498)	2.33104326
61	Depressed nasal tip (HP:0000437)	2.31276024
62	Follicular hyperkeratosis (HP:0007502)	2.30216682
63	Abnormality of the renal collecting system (HP:0004742)	2.28890760
64	Xerostomia (HP:0000217)	2.28083006
65	Septate vagina (HP:0001153)	2.26655867
66	Conical tooth (HP:0000698)	2.26413496
67	Natal tooth (HP:0000695)	2.23650240
68	Curly hair (HP:0002212)	2.17365075
69	Short middle phalanx of the 5th finger (HP:0004220)	2.17124209
70	Brittle hair (HP:0002299)	2.15227311
71	Lack of skin elasticity (HP:0100679)	2.08999375
72	Abnormality of the lacrimal duct (HP:0011481)	2.08264456
73	Hamartoma (HP:0010566)	2.07950012
74	Long nose (HP:0003189)	2.05474125
75	Furrowed tongue (HP:0000221)	2.05108123
76	Oligodontia (HP:0000677)	2.01154352
77	Hypergammaglobulinemia (HP:0010702)	2.00635352
78	Ridged nail (HP:0001807)	1.95329832
79	Abnormality of the nasolacrimal system (HP:0000614)	1.91034989
80	Fine hair (HP:0002213)	1.81945315
81	Advanced eruption of teeth (HP:0006288)	1.81438852
82	Pustule (HP:0200039)	1.74990871
83	Laryngomalacia (HP:0001601)	1.73672722
84	Anhidrosis (HP:0000970)	1.72961485
85	Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)	1.70095911
86	Tetraparesis (HP:0002273)	1.69609182
87	Breast hypoplasia (HP:0003187)	1.69299849
88	Acanthosis nigricans (HP:0000956)	1.69269474
89	Labial hypoplasia (HP:0000066)	1.64872270
90	Abnormality of placental membranes (HP:0011409)	1.60856264
91	Amniotic constriction ring (HP:0009775)	1.60856264
92	Neonatal death (HP:0003811)	1.59818731
93	Skin ulcer (HP:0200042)	1.57420783
94	Dry skin (HP:0000958)	1.55519315
95	Anonychia (HP:0001798)	1.54755420
96	Non-midline cleft lip (HP:0100335)	1.54459039
97	Hypoplasia of dental enamel (HP:0006297)	1.53940585
98	Urticaria (HP:0001025)	1.53766530
99	Fair hair (HP:0002286)	1.52450782
100	Dehydration (HP:0001944)	1.51709771

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	STK24	7.60758569
2	TGFBR1	6.11032652
3	FGFR1	3.57165976
4	MAP3K6	3.26532875
5	EEF2K	3.07257514
6	MAPKAPK3	2.73142689
7	MAPK7	2.71452971
8	FER	2.48470049
9	MAP3K2	2.48333828
10	PIK3CG	2.36536350
11	MAPK12	2.36033338
12	STK3	2.04922023
13	EPHA2	2.03234186
14	FGFR3	1.98813771
15	TRPM7	1.94392804
16	FRK	1.91908630
17	FGFR2	1.80755970
18	LATS1	1.62266165
19	MAP3K3	1.60072888
20	MAPKAPK5	1.46702168
21	SGK223	1.32370577
22	SGK494	1.32370577
23	NLK	1.24480875
24	KIT	1.24099689
25	RPS6KB1	1.20971429
26	TGFBR2	1.17938055
27	CDK12	1.10844068
28	PRKCE	1.10060796
29	IKBKB	1.07272479
30	PBK	1.06128834
31	MST1R	1.03350966
32	SGK2	1.00861609
33	STK38L	0.97967100
34	BRSK2	0.97133831
35	EPHA3	0.96663362
36	RIPK1	0.96637921
37	MAP3K9	0.88367507
38	WNK1	0.88353412
39	TAF1	0.87587925
40	DMPK	0.84442667
41	RPS6KB2	0.83804290
42	MAP3K1	0.82958508
43	IRAK1	0.82785865
44	ERBB3	0.77587624
45	MET	0.75173944
46	MAP2K6	0.72149699
47	MAP3K7	0.72081709
48	BRD4	0.70352058
49	AKT3	0.70123738
50	MST4	0.66006765
51	SGK3	0.65775668
52	GRK7	0.61585512
53	ADRBK1	0.60972423
54	MOS	0.58569695
55	ICK	0.58543482
56	PRKAA2	0.57969266
57	TAOK3	0.55127850
58	BCR	0.53083631
59	MAPKAPK2	0.52668728
60	LATS2	0.52203373
61	SGK1	0.50324259
62	MAP2K4	0.48473300
63	PDGFRB	0.46462945
64	CDK6	0.46390420
65	MTOR	0.46350475
66	MINK1	0.45090953
67	EPHA4	0.44840502
68	CDK3	0.44582916
69	STK10	0.43346188
70	MKNK2	0.42768955
71	LRRK2	0.42502755
72	GRK6	0.42471325
73	GSK3A	0.41594086
74	MARK2	0.40460398
75	PTK2	0.39446831
76	ABL1	0.39054829
77	IGF1R	0.33138702
78	RET	0.32134413
79	ILK	0.32015076
80	IRAK2	0.31732748
81	MAPK9	0.31389070
82	PDGFRA	0.30049717
83	RPS6KA4	0.28723710
84	BLK	0.28674927
85	ERN1	0.28514320
86	CSNK1D	0.28105201
87	PRKCG	0.26418325
88	EPHB1	0.25797177
89	CHUK	0.24073249
90	PRPF4B	0.23095397
91	PKN1	0.21544687
92	JAK1	0.20506934
93	IKBKE	0.19041788
94	BMPR1B	0.16898940
95	RPS6KA2	0.15092110
96	ITK	0.14279975
97	ERBB2	0.14252109
98	MKNK1	0.13616183
99	MAPK10	0.13554944
100	MAPK8	0.13046327

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	5.96461844
2	Linoleic acid metabolism_Homo sapiens_hsa00591	4.63699168
3	Ether lipid metabolism_Homo sapiens_hsa00565	3.45532415
4	Histidine metabolism_Homo sapiens_hsa00340	2.93398240
5	Arachidonic acid metabolism_Homo sapiens_hsa00590	2.88201934
6	Sphingolipid metabolism_Homo sapiens_hsa00600	2.71381117
7	Circadian rhythm_Homo sapiens_hsa04710	2.30763381
8	GnRH signaling pathway_Homo sapiens_hsa04912	2.09194157
9	Dorso-ventral axis formation_Homo sapiens_hsa04320	2.01062128
10	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	1.82495263
11	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.79765568
12	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.70127123
13	VEGF signaling pathway_Homo sapiens_hsa04370	1.69840594
14	Long-term depression_Homo sapiens_hsa04730	1.64600996
15	Fatty acid elongation_Homo sapiens_hsa00062	1.59523520
16	Phototransduction_Homo sapiens_hsa04744	1.59211108
17	Renin secretion_Homo sapiens_hsa04924	1.52485817
18	Fc epsilon RI signaling pathway_Homo sapiens_hsa04664	1.51743709
19	Amoebiasis_Homo sapiens_hsa05146	1.46998411
20	Vascular smooth muscle contraction_Homo sapiens_hsa04270	1.43994969
21	Choline metabolism in cancer_Homo sapiens_hsa05231	1.42396945
22	Glycerophospholipid metabolism_Homo sapiens_hsa00564	1.37479719
23	ECM-receptor interaction_Homo sapiens_hsa04512	1.35762680
24	Serotonergic synapse_Homo sapiens_hsa04726	1.25377465
25	Ras signaling pathway_Homo sapiens_hsa04014	1.18711271
26	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	1.18151881
27	Fc gamma R-mediated phagocytosis_Homo sapiens_hsa04666	1.04756907
28	p53 signaling pathway_Homo sapiens_hsa04115	1.02019087
29	Platelet activation_Homo sapiens_hsa04611	1.00994451
30	MicroRNAs in cancer_Homo sapiens_hsa05206	1.00823076
31	Adherens junction_Homo sapiens_hsa04520	1.00698532
32	Melanogenesis_Homo sapiens_hsa04916	0.98325226
33	ABC transporters_Homo sapiens_hsa02010	0.97978526
34	Retinol metabolism_Homo sapiens_hsa00830	0.96463043
35	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.92543163
36	Hedgehog signaling pathway_Homo sapiens_hsa04340	0.91911852
37	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.91411966
38	Phospholipase D signaling pathway_Homo sapiens_hsa04072	0.85060414
39	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.83763244
40	Thyroid cancer_Homo sapiens_hsa05216	0.82331385
41	Glioma_Homo sapiens_hsa05214	0.82009567
42	Glutamatergic synapse_Homo sapiens_hsa04724	0.77230127
43	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.76750551
44	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.74438977
45	Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962	0.73268258
46	Basal cell carcinoma_Homo sapiens_hsa05217	0.72681375
47	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.72100259
48	* Staphylococcus aureus infection_Homo sapiens_hsa05150	0.69839230
49	Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa04550	0.64552325
50	Pancreatic secretion_Homo sapiens_hsa04972	0.64536174
51	Gastric acid secretion_Homo sapiens_hsa04971	0.64244392
52	Pertussis_Homo sapiens_hsa05133	0.63646569
53	Proteoglycans in cancer_Homo sapiens_hsa05205	0.63149232
54	Long-term potentiation_Homo sapiens_hsa04720	0.61562764
55	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.61295483
56	Protein digestion and absorption_Homo sapiens_hsa04974	0.60683807
57	Tight junction_Homo sapiens_hsa04530	0.58841655
58	Rap1 signaling pathway_Homo sapiens_hsa04015	0.57407817
59	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.55261815
60	Phenylalanine metabolism_Homo sapiens_hsa00360	0.54234312
61	Salivary secretion_Homo sapiens_hsa04970	0.51553818
62	MAPK signaling pathway_Homo sapiens_hsa04010	0.51440911
63	Endocytosis_Homo sapiens_hsa04144	0.51033107
64	Estrogen signaling pathway_Homo sapiens_hsa04915	0.50572680
65	Acute myeloid leukemia_Homo sapiens_hsa05221	0.50068839
66	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.49858347
67	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.49506492
68	Neurotrophin signaling pathway_Homo sapiens_hsa04722	0.49467464
69	Tuberculosis_Homo sapiens_hsa05152	0.48667811
70	Hippo signaling pathway_Homo sapiens_hsa04390	0.48576807
71	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.47617555
72	Renal cell carcinoma_Homo sapiens_hsa05211	0.46612476
73	Pathways in cancer_Homo sapiens_hsa05200	0.45925847
74	Pancreatic cancer_Homo sapiens_hsa05212	0.45877983
75	Toxoplasmosis_Homo sapiens_hsa05145	0.45829982
76	Focal adhesion_Homo sapiens_hsa04510	0.45305533
77	PPAR signaling pathway_Homo sapiens_hsa03320	0.45194294
78	Small cell lung cancer_Homo sapiens_hsa05222	0.44850812
79	Renin-angiotensin system_Homo sapiens_hsa04614	0.43708659
80	Gap junction_Homo sapiens_hsa04540	0.43006949
81	Notch signaling pathway_Homo sapiens_hsa04330	0.42544286
82	Bladder cancer_Homo sapiens_hsa05219	0.42256193
83	Wnt signaling pathway_Homo sapiens_hsa04310	0.41630278
84	Hepatitis C_Homo sapiens_hsa05160	0.41529207
85	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.40878332
86	Nitrogen metabolism_Homo sapiens_hsa00910	0.37099162
87	Circadian entrainment_Homo sapiens_hsa04713	0.35822914
88	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.35542169
89	Fat digestion and absorption_Homo sapiens_hsa04975	0.34348225
90	Axon guidance_Homo sapiens_hsa04360	0.34102208
91	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.34076725
92	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.33918665
93	Insulin signaling pathway_Homo sapiens_hsa04910	0.33154489
94	ErbB signaling pathway_Homo sapiens_hsa04012	0.31196180
95	Jak-STAT signaling pathway_Homo sapiens_hsa04630	0.31163641
96	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.31069587
97	FoxO signaling pathway_Homo sapiens_hsa04068	0.30966274
98	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.30732437
99	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.30381784
100	Tyrosine metabolism_Homo sapiens_hsa00350	0.29092349

DSG1

Functional Annotation Prediction

Predicted biological processes (GO)

Predicted upstream transcription factors (ChEA)

Predicted mouse phenotypes (MGI)

Predicted human phenotypes

Predicted kinase interactions (KEA)

Predicted pathways (KEGG)

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