ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	desmosome organization (GO:0002934)	7.07169392
2	bundle of His cell to Purkinje myocyte communication (GO:0086069)	6.56078206
3	regulation of water loss via skin (GO:0033561)	6.46494163
4	establishment of skin barrier (GO:0061436)	5.92877692
5	histone H3-K36 demethylation (GO:0070544)	5.20965551
6	protein targeting to Golgi (GO:0000042)	4.97340860
7	hemidesmosome assembly (GO:0031581)	4.74403030
8	intestinal epithelial cell development (GO:0060576)	4.68178018
9	establishment of protein localization to Golgi (GO:0072600)	4.67720916
10	multicellular organismal water homeostasis (GO:0050891)	4.65971983
11	retrograde transport, vesicle recycling within Golgi (GO:0000301)	4.65851271
12	skin morphogenesis (GO:0043589)	4.56597629
13	keratinocyte development (GO:0003334)	4.53311229
14	regulation of bile acid biosynthetic process (GO:0070857)	4.48018557
15	maintenance of gastrointestinal epithelium (GO:0030277)	4.40920309
16	keratinocyte proliferation (GO:0043616)	4.23199307
17	regulation of Rac protein signal transduction (GO:0035020)	4.18763867
18	water homeostasis (GO:0030104)	3.92868402
19	negative regulation of keratinocyte proliferation (GO:0010839)	3.90683048
20	cellular glucuronidation (GO:0052695)	3.88178754
21	COPII vesicle coating (GO:0048208)	3.77537550
22	nuclear pore organization (GO:0006999)	3.76565868
23	nuclear pore complex assembly (GO:0051292)	3.75602004
24	uronic acid metabolic process (GO:0006063)	3.71981196
25	glucuronate metabolic process (GO:0019585)	3.71981196
26	epithelial structure maintenance (GO:0010669)	3.63821068
27	tight junction assembly (GO:0070830)	3.63330155
28	epithelial cell-cell adhesion (GO:0090136)	3.62949205
29	early endosome to late endosome transport (GO:0045022)	3.61576268
30	protein localization to Golgi apparatus (GO:0034067)	3.54701065
31	Sertoli cell development (GO:0060009)	3.51444439
32	regulation of transforming growth factor beta1 production (GO:0032908)	3.38838325
33	urea metabolic process (GO:0019627)	3.36635190
34	urea cycle (GO:0000050)	3.34141299
35	regulation of cholesterol homeostasis (GO:2000188)	3.30564450
36	regulation of cell-cell adhesion mediated by cadherin (GO:2000047)	3.27558953
37	regulation of vascular endothelial growth factor signaling pathway (GO:1900746)	3.24380791
38	regulation of keratinocyte differentiation (GO:0045616)	3.19096755
39	keratinization (GO:0031424)	3.18167498
40	regulation of endothelial cell chemotaxis (GO:2001026)	3.16987317
41	mitotic sister chromatid cohesion (GO:0007064)	3.13883981
42	O-glycan processing (GO:0016266)	3.09293421
43	auditory receptor cell differentiation (GO:0042491)	3.07900050
44	gap junction assembly (GO:0016264)	3.04670210
45	positive regulation of epidermal cell differentiation (GO:0045606)	3.03885534
46	negative regulation of complement activation (GO:0045916)	3.03415510
47	positive regulation of Cdc42 GTPase activity (GO:0043089)	3.02560035
48	ER overload response (GO:0006983)	2.98316790
49	trophectodermal cell differentiation (GO:0001829)	2.98045675
50	myoblast migration (GO:0051451)	2.97224803
51	regulation of podosome assembly (GO:0071801)	2.97135213
52	glomerular visceral epithelial cell development (GO:0072015)	2.89779302
53	establishment of epithelial cell polarity (GO:0090162)	2.87756937
54	receptor recycling (GO:0001881)	2.86393935
55	negative regulation of protein activation cascade (GO:2000258)	2.85888733
56	regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)	2.82688019
57	regulation of keratinocyte proliferation (GO:0010837)	2.80007475
58	keratinocyte differentiation (GO:0030216)	2.78360274
59	negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class	2.74540723
60	sphingomyelin metabolic process (GO:0006684)	2.72803735
61	histone lysine demethylation (GO:0070076)	2.72555748
62	nitrogen cycle metabolic process (GO:0071941)	2.71789354
63	positive regulation of keratinocyte differentiation (GO:0045618)	2.70493845
64	activation of Rac GTPase activity (GO:0032863)	2.69848473
65	amyloid precursor protein metabolic process (GO:0042982)	2.68062358
66	cell-cell junction assembly (GO:0007043)	2.63539608
67	regulation of transforming growth factor beta production (GO:0071634)	2.63288834
68	regulation of transforming growth factor beta2 production (GO:0032909)	2.61293700
69	phenylpropanoid metabolic process (GO:0009698)	2.60529125
70	calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)	2.60323191
71	regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator	2.60036858
72	regulation of branching involved in salivary gland morphogenesis (GO:0060693)	2.55843334
73	macroautophagy (GO:0016236)	2.55099401
74	ventricular cardiac muscle cell action potential (GO:0086005)	2.54362439
75	nucleotide-sugar biosynthetic process (GO:0009226)	2.53986813
76	COPI coating of Golgi vesicle (GO:0048205)	2.52211131
77	Golgi transport vesicle coating (GO:0048200)	2.52211131
78	epidermal cell differentiation (GO:0009913)	2.51779348
79	positive regulation of transcription from RNA polymerase III promoter (GO:0045945)	2.50816354
80	diterpenoid biosynthetic process (GO:0016102)	2.50293937
81	biotin metabolic process (GO:0006768)	2.49418867
82	histone demethylation (GO:0016577)	2.49079234
83	epoxygenase P450 pathway (GO:0019373)	2.48356768
84	intra-Golgi vesicle-mediated transport (GO:0006891)	2.48191675
85	glomerular epithelial cell development (GO:0072310)	2.48105022
86	muscle cell migration (GO:0014812)	2.46873382
87	regulation of protein activation cascade (GO:2000257)	2.45305292
88	ectoderm development (GO:0007398)	2.43551146
89	establishment of apical/basal cell polarity (GO:0035089)	2.42955296
90	white fat cell differentiation (GO:0050872)	2.42396187
91	Golgi to endosome transport (GO:0006895)	2.42172920
92	hepatocyte apoptotic process (GO:0097284)	2.41875383
93	positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:00360	2.41866511
94	negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)	2.41234015
95	pore complex assembly (GO:0046931)	2.39232398
96	bile acid and bile salt transport (GO:0015721)	2.35927446
97	regulation of complement activation (GO:0030449)	2.34336642
98	nodal signaling pathway (GO:0038092)	2.33142187
99	bile acid metabolic process (GO:0008206)	2.32194547
100	vesicle fusion (GO:0006906)	2.32178126

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	TP63_17297297_ChIP-ChIP_HaCaT_Human	6.12798567
2	ESR1_20079471_ChIP-ChIP_T-47D_Human	4.06633362
3	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	3.84227546
4	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	3.38048735
5	ESR2_21235772_ChIP-Seq_MCF-7_Human	3.11045204
6	ZNF217_24962896_ChIP-Seq_MCF-7_Human	2.94125789
7	ESR1_21235772_ChIP-Seq_MCF-7_Human	2.90973290
8	GATA6_25053715_ChIP-Seq_YYC3_Human	2.66820127
9	CDX2_20551321_ChIP-Seq_CACO-2_Human	2.60133440
10	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	2.57910245
11	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	2.57910245
12	HIF1A_21447827_ChIP-Seq_MCF-7_Human	2.45377222
13	SOX2_27498859_Chip-Seq_STOMACH_Mouse	2.44677866
14	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	2.38487333
15	KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human	2.32936758
16	FOXO3_23340844_ChIP-Seq_DLD1_Human	2.26244743
17	PPAR_26484153_Chip-Seq_NCI-H1993_Human	2.26211741
18	AR_21909140_ChIP-Seq_LNCAP_Human	2.23840940
19	ZNF652_21678463_ChIP-ChIP_ZR75-1_Human	2.22875028
20	FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human	2.20283239
21	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	2.19695228
22	TFAP2C_20629094_ChIP-Seq_MCF-7_Human	2.17680640
23	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	2.14845269
24	SOX2_20726797_ChIP-Seq_SW620_Human	2.01750215
25	GATA3_24758297_ChIP-Seq_MCF-7_Human	1.97928290
26	GATA4_25053715_ChIP-Seq_YYC3_Human	1.97071978
27	KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human	1.95712391
28	RUNX1_27514584_Chip-Seq_MCF-7_Human	1.92397148
29	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	1.90777558
30	SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse	1.88393257
31	ATF3_27146783_Chip-Seq_COLON_Human	1.85522757
32	LXR_22158963_ChIP-Seq_LIVER_Mouse	1.84526812
33	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.83978491
34	NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse	1.79372656
35	SOX9_24532713_ChIP-Seq_HFSC_Mouse	1.79074057
36	EGR1_19374776_ChIP-ChIP_THP-1_Human	1.75349122
37	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.74634280
38	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	1.74380412
39	ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human	1.74313259
40	P63_26484246_Chip-Seq_KERATINOCYTES_Human	1.73363142
41	STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse	1.71382563
42	KLF5_25053715_ChIP-Seq_YYC3_Human	1.69651990
43	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.69071449
44	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	1.67512001
45	AR_21915096_ChIP-Seq_LNCaP-1F5_Human	1.60480740
46	CHD1_26751641_Chip-Seq_LNCaP_Human	1.57026111
47	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.54775488
48	PPARA_22158963_ChIP-Seq_LIVER_Mouse	1.54275601
49	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.50228093
50	AHR_22903824_ChIP-Seq_MCF-7_Human	1.48236647
51	CJUN_26792858_Chip-Seq_BT549_Human	1.45824564
52	ELF5_23300383_ChIP-Seq_T47D_Human	1.45564324
53	RACK7_27058665_Chip-Seq_MCF-7_Human	1.43564423
54	TP63_23658742_ChIP-Seq_EP156T_Human	1.43325378
55	FOXA2_19822575_ChIP-Seq_HepG2_Human	1.39453957
56	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.29747544
57	ESR1_15608294_ChIP-ChIP_MCF-7_Human	1.29119337
58	ZNF263_19887448_ChIP-Seq_K562_Human	1.28636480
59	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.28089135
60	CDX2_22108803_ChIP-Seq_LS180_Human	1.27600730
61	EOMES_20176728_ChIP-ChIP_TSCs_Mouse	1.26519821
62	FOXA1_26743006_Chip-Seq_LNCaP-abl_Human	1.25196579
63	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.24913375
64	ER_23166858_ChIP-Seq_MCF-7_Human	1.24088709
65	FOXA1_25552417_ChIP-Seq_VCAP_Human	1.16312947
66	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.15816373
67	CLOCK_20551151_ChIP-Seq_293T_Human	1.11601253
68	SALL4_18804426_ChIP-ChIP_XEN_Mouse	1.09685001
69	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.09028006
70	ARNT_22903824_ChIP-Seq_MCF-7_Human	1.07230059
71	TCF7L2_21901280_ChIP-Seq_H4IIE_Rat	1.04492570
72	HNF4A_19822575_ChIP-Seq_HepG2_Human	1.01593477
73	ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	0.99592685
74	EP300_21415370_ChIP-Seq_HL-1_Mouse	0.97566846
75	BRD4_25478319_ChIP-Seq_HGPS_Human	0.96675191
76	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	0.95205033
77	TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse	0.93217210
78	TCF3_18467660_ChIP-ChIP_MESCs_Mouse	0.92893710
79	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	0.92476095
80	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.92140859
81	UBF1/2_26484160_Chip-Seq_HMECs_Human	0.90576606
82	CDX2_19796622_ChIP-Seq_MESCs_Mouse	0.90467397
83	P300_27058665_Chip-Seq_ZR-75-30cells_Human	0.89458543
84	RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human	0.89032691
85	NFIB_24661679_ChIP-Seq_LUNG_Mouse	0.88557559
86	CREB1_26743006_Chip-Seq_LNCaP-abl_Human	0.87684848
87	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	0.85960403
88	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	0.83892239
89	CHD7_19251738_ChIP-ChIP_MESCs_Mouse	0.83780340
90	SMAD_19615063_ChIP-ChIP_OVARY_Human	0.82629879
91	KLF4_18555785_ChIP-Seq_MESCs_Mouse	0.81339474
92	HNFA_21074721_ChIP-Seq_CACO-2_Human	0.81076619
93	CDX2_21074721_ChIP-Seq_CACO-2_Mouse	0.80525742
94	PPARG_20176806_ChIP-Seq_3T3-L1_Mouse	0.80347684
95	ETV1_20927104_ChIP-Seq_GIST48_Human	0.78072493
96	TDRD3_21172665_ChIP-Seq_MCF-7_Human	0.75869556
97	GATA2_21666600_ChIP-Seq_HMVEC_Human	0.75804251
98	KDM5B_21448134_ChIP-Seq_MESCs_Mouse	0.75715780
99	TP53_18474530_ChIP-ChIP_U2OS_Human	0.74165209
100	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	0.73943657

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0010234_abnormal_vibrissa_follicle	5.03817652
2	MP0002139_abnormal_hepatobiliary_system	4.02441705
3	MP0002796_impaired_skin_barrier	3.85570811
4	MP0000579_abnormal_nail_morphology	3.48477119
5	MP0010678_abnormal_skin_adnexa	3.18387807
6	MP0004264_abnormal_extraembryonic_tissu	2.95113591
7	MP0010352_gastrointestinal_tract_polyps	2.76925151
8	MP0000383_abnormal_hair_follicle	2.50326510
9	MP0003941_abnormal_skin_development	2.48509835
10	MP0002138_abnormal_hepatobiliary_system	2.41835669
11	MP0003705_abnormal_hypodermis_morpholog	2.31823089
12	MP0002098_abnormal_vibrissa_morphology	2.25192499
13	MP0001666_abnormal_nutrient_absorption	2.19327376
14	MP0005275_abnormal_skin_tensile	2.18661304
15	MP0002060_abnormal_skin_morphology	2.11878479
16	MP0005501_abnormal_skin_physiology	2.05736996
17	MP0005085_abnormal_gallbladder_physiolo	2.04705180
18	MP0005365_abnormal_bile_salt	1.99433267
19	MP0008961_abnormal_basal_metabolism	1.97929684
20	MP0001216_abnormal_epidermal_layer	1.93307913
21	MP0008004_abnormal_stomach_pH	1.88244147
22	MP0008057_abnormal_DNA_replication	1.86130659
23	MP0005360_urolithiasis	1.85888240
24	MP0003183_abnormal_peptide_metabolism	1.83905958
25	MP0003252_abnormal_bile_duct	1.78354117
26	MP0002009_preneoplasia	1.75315912
27	MP0003453_abnormal_keratinocyte_physiol	1.73445199
28	MP0009384_cardiac_valve_regurgitation	1.72547173
29	MP0000427_abnormal_hair_cycle	1.71348506
30	MP0003868_abnormal_feces_composition	1.69911506
31	MP0004782_abnormal_surfactant_physiolog	1.67421470
32	MP0000462_abnormal_digestive_system	1.62188014
33	MP0001849_ear_inflammation	1.58209356
34	MP0005023_abnormal_wound_healing	1.57883724
35	MP0000377_abnormal_hair_follicle	1.55682188
36	MP0000566_synostosis	1.49613257
37	MP0005408_hypopigmentation	1.48917446
38	MP0005451_abnormal_body_composition	1.44214934
39	MP0009780_abnormal_chondrocyte_physiolo	1.43865198
40	MP0010771_integument_phenotype	1.43651591
41	MP0005257_abnormal_intraocular_pressure	1.42403090
42	MP0004957_abnormal_blastocyst_morpholog	1.42382723
43	MP0000627_abnormal_mammary_gland	1.38978378
44	MP0001881_abnormal_mammary_gland	1.32643428
45	MP0004019_abnormal_vitamin_homeostasis	1.32510860
46	MP0003566_abnormal_cell_adhesion	1.31675516
47	MP0004272_abnormal_basement_membrane	1.31166076
48	MP0000762_abnormal_tongue_morphology	1.24978082
49	MP0005670_abnormal_white_adipose	1.19453116
50	MP0000467_abnormal_esophagus_morphology	1.17670821
51	MP0000003_abnormal_adipose_tissue	1.17604859
52	MP0004043_abnormal_pH_regulation	1.17406069
53	MP0002254_reproductive_system_inflammat	1.14207679
54	MP0009697_abnormal_copulation	1.13992350
55	MP0010329_abnormal_lipoprotein_level	1.07171755
56	MP0004185_abnormal_adipocyte_glucose	1.05195987
57	MP0005076_abnormal_cell_differentiation	1.04441124
58	MP0003195_calcinosis	1.04379816
59	MP0002166_altered_tumor_susceptibility	1.03367630
60	MP0003950_abnormal_plasma_membrane	1.01669646
61	MP0000647_abnormal_sebaceous_gland	1.01603318
62	MP0003718_maternal_effect	1.00639702
63	MP0003943_abnormal_hepatobiliary_system	0.97046007
64	MP0009931_abnormal_skin_appearance	0.94721747
65	MP0005332_abnormal_amino_acid	0.94520252
66	MP0003890_abnormal_embryonic-extraembry	0.93889616
67	MP0008438_abnormal_cutaneous_collagen	0.92760889
68	MP0005375_adipose_tissue_phenotype	0.91516312
69	MP0000470_abnormal_stomach_morphology	0.87781835
70	MP0005666_abnormal_adipose_tissue	0.84402496
71	MP0001765_abnormal_ion_homeostasis	0.84186782
72	MP0001851_eye_inflammation	0.84000031
73	MP0000367_abnormal_coat/_hair	0.83400042
74	MP0001730_embryonic_growth_arrest	0.83126528
75	MP0001873_stomach_inflammation	0.82443384
76	MP0005248_abnormal_Harderian_gland	0.81706959
77	MP0001348_abnormal_lacrimal_gland	0.80451287
78	MP0002006_tumorigenesis	0.79321975
79	MP0002876_abnormal_thyroid_physiology	0.78360755
80	MP0001191_abnormal_skin_condition	0.76875790
81	MP0003693_abnormal_embryo_hatching	0.74265796
82	MP0002896_abnormal_bone_mineralization	0.74022305
83	MP0000013_abnormal_adipose_tissue	0.70297554
84	MP0005395_other_phenotype	0.69037064
85	MP0002086_abnormal_extraembryonic_tissu	0.68289245
86	MP0005409_darkened_coat_color	0.66578529
87	MP0001664_abnormal_digestion	0.66319955
88	MP0004947_skin_inflammation	0.65388926
89	MP0002697_abnormal_eye_size	0.65011909
90	MP0000537_abnormal_urethra_morphology	0.64222101
91	MP0002118_abnormal_lipid_homeostasis	0.62128395
92	MP0000432_abnormal_head_morphology	0.61534618
93	MP0001661_extended_life_span	0.60600453
94	MP0002970_abnormal_white_adipose	0.59035039
95	MP0001243_abnormal_dermal_layer	0.58775663
96	MP0009703_decreased_birth_body	0.57824935
97	MP0003936_abnormal_reproductive_system	0.57239460
98	MP0000477_abnormal_intestine_morphology	0.53815613
99	MP0005410_abnormal_fertilization	0.53667508
100	MP0002163_abnormal_gland_morphology	0.51104892

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Pili torti (HP:0003777)	6.14330357
2	Right ventricular cardiomyopathy (HP:0011663)	5.19257438
3	Retinal atrophy (HP:0001105)	4.39073472
4	Abnormal hair laboratory examination (HP:0003328)	4.33592381
5	Tubulointerstitial nephritis (HP:0001970)	4.18720533
6	Abnormality of monocarboxylic acid metabolism (HP:0010996)	3.76063036
7	Lip pit (HP:0100267)	3.22591855
8	Alopecia of scalp (HP:0002293)	3.20759241
9	Plantar hyperkeratosis (HP:0007556)	3.20020505
10	Abnormality of the nasal septum (HP:0000419)	3.17922705
11	Intrahepatic cholestasis (HP:0001406)	3.14137480
12	Malnutrition (HP:0004395)	3.11944322
13	J-shaped sella turcica (HP:0002680)	3.04792562
14	Amelogenesis imperfecta (HP:0000705)	3.01498677
15	Palmar hyperkeratosis (HP:0010765)	2.90141601
16	Hypophosphatemic rickets (HP:0004912)	2.85611790
17	Abnormality of nail color (HP:0100643)	2.83438515
18	Palmoplantar hyperkeratosis (HP:0000972)	2.82731203
19	Atrophic scars (HP:0001075)	2.82593133
20	Hyperactive renin-angiotensin system (HP:0000841)	2.79136614
21	Chronic bronchitis (HP:0004469)	2.77505537
22	Sparse eyelashes (HP:0000653)	2.77458616
23	Tetraparesis (HP:0002273)	2.76249471
24	Milia (HP:0001056)	2.72549041
25	Hyperkalemia (HP:0002153)	2.72087101
26	Curly hair (HP:0002212)	2.69875999
27	Abnormality of glutamine family amino acid metabolism (HP:0010902)	2.66090395
28	Fragile nails (HP:0001808)	2.63856509
29	Vascular calcification (HP:0004934)	2.59092485
30	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.55244251
31	Onycholysis (HP:0001806)	2.44499075
32	Abnormality of the dental pulp (HP:0006479)	2.44297475
33	Woolly hair (HP:0002224)	2.42067245
34	Rickets (HP:0002748)	2.37550891
35	Abnormal biliary tract morphology (HP:0012440)	2.37276272
36	Biliary tract neoplasm (HP:0100574)	2.36597220
37	Cardiovascular calcification (HP:0011915)	2.35657902
38	Fragile skin (HP:0001030)	2.35151397
39	Dry hair (HP:0011359)	2.34146351
40	Sparse lateral eyebrow (HP:0005338)	2.30860385
41	Hypoplasia of dental enamel (HP:0006297)	2.30053452
42	Abnormality of the fingertips (HP:0001211)	2.29928331
43	Hydroxyprolinuria (HP:0003080)	2.27329814
44	Abnormality of proline metabolism (HP:0010907)	2.27329814
45	Glycosuria (HP:0003076)	2.25715311
46	Abnormality of urine glucose concentration (HP:0011016)	2.25715311
47	Abnormality of the dental root (HP:0006486)	2.25177153
48	Taurodontia (HP:0000679)	2.25177153
49	Abnormality of permanent molar morphology (HP:0011071)	2.25177153
50	Exocrine pancreatic insufficiency (HP:0001738)	2.21694481
51	Abnormality of molar (HP:0011077)	2.19730409
52	Abnormality of molar morphology (HP:0011070)	2.19730409
53	Abnormality of the gastric mucosa (HP:0004295)	2.19688261
54	Aplasia cutis congenita (HP:0001057)	2.19635896
55	Popliteal pterygium (HP:0009756)	2.14925158
56	Hypotrichosis (HP:0001006)	2.09566477
57	Progressive sensorineural hearing impairment (HP:0000408)	2.05773079
58	Cone-rod dystrophy (HP:0000548)	2.04744304
59	Increased CSF protein (HP:0002922)	2.01090712
60	Pterygium (HP:0001059)	2.00363049
61	Male infertility (HP:0003251)	1.98143627
62	Volvulus (HP:0002580)	1.97282741
63	Natal tooth (HP:0000695)	1.96948649
64	Abnormality of the costochondral junction (HP:0000919)	1.96635131
65	Stage 5 chronic kidney disease (HP:0003774)	1.96591912
66	Generalized aminoaciduria (HP:0002909)	1.96363330
67	Abnormality of the salivary glands (HP:0010286)	1.95122859
68	Follicular hyperkeratosis (HP:0007502)	1.94768886
69	Fat malabsorption (HP:0002630)	1.93267213
70	Depressed nasal tip (HP:0000437)	1.93258479
71	Advanced eruption of teeth (HP:0006288)	1.92910798
72	Hyponatremia (HP:0002902)	1.91427068
73	Gout (HP:0001997)	1.88270291
74	Flat acetabular roof (HP:0003180)	1.87957150
75	Congenital ichthyosiform erythroderma (HP:0007431)	1.86781478
76	Conjugated hyperbilirubinemia (HP:0002908)	1.85854610
77	Hypoplastic labia majora (HP:0000059)	1.84569301
78	Focal segmental glomerulosclerosis (HP:0000097)	1.81963201
79	Abnormality of small intestinal villus morphology (HP:0011472)	1.81807237
80	Villous atrophy (HP:0011473)	1.81807237
81	Short nail (HP:0001799)	1.80937297
82	Trismus (HP:0000211)	1.79892460
83	Corneal erosion (HP:0200020)	1.79039117
84	Septate vagina (HP:0001153)	1.77453575
85	Dehydration (HP:0001944)	1.76520889
86	Broad face (HP:0000283)	1.76501635
87	Selective tooth agenesis (HP:0001592)	1.74653895
88	Ectropion (HP:0000656)	1.74354054
89	Abnormality of the labia majora (HP:0012881)	1.72398793
90	Deep philtrum (HP:0002002)	1.71268434
91	Abnormality of dentin (HP:0010299)	1.70620396
92	Abnormality of the distal phalanges of the toes (HP:0010182)	1.69267938
93	Abnormality of chloride homeostasis (HP:0011422)	1.67572089
94	Zonular cataract (HP:0010920)	1.67334353
95	Hyperlipoproteinemia (HP:0010980)	1.66018940
96	Ridged nail (HP:0001807)	1.65316451
97	Heterotopia (HP:0002282)	1.65054513
98	Deformed sella turcica (HP:0002681)	1.64895577
99	Abnormality of vitamin metabolism (HP:0100508)	1.62052516
100	Blepharitis (HP:0000498)	1.61739937

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MST1R	7.42273338
2	EPHA2	5.57898760
3	MET	3.82834585
4	MAP3K12	3.02967906
5	MST4	2.89928130
6	STK39	2.79094277
7	STK38L	2.35681617
8	WNK4	2.28131607
9	LMTK2	2.02313392
10	AKT3	2.00913588
11	LATS1	1.96996775
12	STK24	1.84717637
13	PAK4	1.74376049
14	CDK12	1.67384974
15	TNIK	1.62498683
16	MYLK	1.58592100
17	SIK1	1.49782019
18	MKNK2	1.45342083
19	PBK	1.45209150
20	MAP3K9	1.40540808
21	CAMK1G	1.39784842
22	YES1	1.38543324
23	PRKG2	1.33269647
24	LATS2	1.31699240
25	TAF1	1.30437162
26	PTK2	1.26757506
27	CAMK1D	1.26563889
28	RIPK1	1.13803406
29	FER	1.11564723
30	TSSK6	1.10197925
31	BRSK2	1.06868477
32	STK38	1.04871723
33	MAP3K13	1.03704194
34	EIF2AK1	1.02536217
35	MAP3K2	1.00011765
36	WNK1	0.94030151
37	TESK1	0.93494305
38	STK3	0.92476612
39	MAP3K3	0.92140472
40	OXSR1	0.87093315
41	IRAK3	0.86748039
42	PRKCI	0.83044940
43	PNCK	0.82784023
44	NME1	0.79180597
45	FGFR1	0.78115954
46	PTK6	0.77741665
47	FGFR4	0.76862605
48	NEK6	0.74004780
49	PDGFRA	0.73621691
50	SIK3	0.73602678
51	ERBB4	0.72897581
52	CDK3	0.72827039
53	PRKD3	0.72726750
54	SMG1	0.72526345
55	DMPK	0.72446373
56	CHUK	0.72180534
57	PIK3CA	0.71982912
58	SCYL2	0.70492346
59	MTOR	0.69033569
60	EIF2AK3	0.68716119
61	PRKD2	0.64372228
62	TRPM7	0.62683155
63	TTK	0.60796662
64	RPS6KB2	0.56364885
65	PDGFRB	0.55586720
66	BMPR2	0.52930626
67	PLK4	0.52724720
68	MKNK1	0.48352978
69	GRK1	0.47524374
70	BMX	0.47201284
71	NLK	0.45689218
72	PKN2	0.44220588
73	INSRR	0.42946020
74	BRD4	0.42100776
75	MELK	0.40771112
76	ICK	0.39615427
77	TRIB3	0.38859913
78	BCR	0.35874426
79	CSNK1D	0.35792421
80	ERBB2	0.35247121
81	BRAF	0.35065803
82	ERBB3	0.33368989
83	PRKCH	0.33076802
84	PRKAA2	0.32994479
85	NEK1	0.30459790
86	MUSK	0.30363411
87	CDK6	0.30350596
88	CSNK1E	0.27922812
89	CDK7	0.27559319
90	NME2	0.23885439
91	TBK1	0.22660390
92	CHEK1	0.22238631
93	PDPK1	0.20820218
94	PRKCE	0.20683021
95	JAK1	0.20618463
96	MAPK14	0.20313346
97	CDK9	0.20121629
98	ACVR1B	0.19995589
99	PIK3CG	0.19652342
100	MAP2K6	0.19177195

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	4.26735546
2	Caffeine metabolism_Homo sapiens_hsa00232	3.15727404
3	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	2.83970414
4	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	2.70173216
5	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	2.67739517
6	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	2.53121553
7	Vitamin B6 metabolism_Homo sapiens_hsa00750	2.36240097
8	Sulfur metabolism_Homo sapiens_hsa00920	2.33154112
9	Chemical carcinogenesis_Homo sapiens_hsa05204	2.30270162
10	Steroid hormone biosynthesis_Homo sapiens_hsa00140	2.29607750
11	Primary bile acid biosynthesis_Homo sapiens_hsa00120	2.28899399
12	Arginine biosynthesis_Homo sapiens_hsa00220	2.19210889
13	Retinol metabolism_Homo sapiens_hsa00830	2.14941465
14	Drug metabolism - other enzymes_Homo sapiens_hsa00983	1.97824676
15	Adherens junction_Homo sapiens_hsa04520	1.97450418
16	Thyroid cancer_Homo sapiens_hsa05216	1.89523649
17	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.79891857
18	Tight junction_Homo sapiens_hsa04530	1.74198392
19	Phenylalanine metabolism_Homo sapiens_hsa00360	1.68378875
20	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.51636672
21	Histidine metabolism_Homo sapiens_hsa00340	1.50598689
22	Sphingolipid metabolism_Homo sapiens_hsa00600	1.48458847
23	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.44048319
24	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	1.35192125
25	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.31354964
26	Mineral absorption_Homo sapiens_hsa04978	1.29943062
27	Folate biosynthesis_Homo sapiens_hsa00790	1.29160126
28	Bile secretion_Homo sapiens_hsa04976	1.25996926
29	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.25919199
30	Circadian rhythm_Homo sapiens_hsa04710	1.22421297
31	Complement and coagulation cascades_Homo sapiens_hsa04610	1.21293000
32	Glutathione metabolism_Homo sapiens_hsa00480	1.18849267
33	ECM-receptor interaction_Homo sapiens_hsa04512	1.14945751
34	Fatty acid biosynthesis_Homo sapiens_hsa00061	1.12246965
35	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	1.11410717
36	Lysine degradation_Homo sapiens_hsa00310	1.06784616
37	Protein digestion and absorption_Homo sapiens_hsa04974	1.06316596
38	Linoleic acid metabolism_Homo sapiens_hsa00591	1.03483286
39	Arginine and proline metabolism_Homo sapiens_hsa00330	1.02544697
40	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	0.94451109
41	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.91926444
42	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.89301421
43	ABC transporters_Homo sapiens_hsa02010	0.88622964
44	Galactose metabolism_Homo sapiens_hsa00052	0.84681472
45	RNA transport_Homo sapiens_hsa03013	0.82429657
46	Renin-angiotensin system_Homo sapiens_hsa04614	0.79086718
47	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	0.78231710
48	Leukocyte transendothelial migration_Homo sapiens_hsa04670	0.77569825
49	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.73086758
50	Fat digestion and absorption_Homo sapiens_hsa04975	0.72991397
51	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.71900038
52	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.71362879
53	Vibrio cholerae infection_Homo sapiens_hsa05110	0.71081873
54	Oocyte meiosis_Homo sapiens_hsa04114	0.68308411
55	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.67014022
56	Glucagon signaling pathway_Homo sapiens_hsa04922	0.66880691
57	Amoebiasis_Homo sapiens_hsa05146	0.65242049
58	Proteoglycans in cancer_Homo sapiens_hsa05205	0.63108903
59	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.62961098
60	Notch signaling pathway_Homo sapiens_hsa04330	0.62141625
61	Tyrosine metabolism_Homo sapiens_hsa00350	0.61165603
62	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.60537337
63	Central carbon metabolism in cancer_Homo sapiens_hsa05230	0.60435276
64	Insulin resistance_Homo sapiens_hsa04931	0.59089598
65	PPAR signaling pathway_Homo sapiens_hsa03320	0.58794668
66	Bacterial invasion of epithelial cells_Homo sapiens_hsa05100	0.58523281
67	Other glycan degradation_Homo sapiens_hsa00511	0.57907907
68	Renal cell carcinoma_Homo sapiens_hsa05211	0.57033913
69	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.56224968
70	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.55825597
71	Hepatitis C_Homo sapiens_hsa05160	0.54970300
72	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.54541601
73	Selenocompound metabolism_Homo sapiens_hsa00450	0.53628417
74	Focal adhesion_Homo sapiens_hsa04510	0.53604769
75	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.53399780
76	Pancreatic secretion_Homo sapiens_hsa04972	0.52629275
77	TGF-beta signaling pathway_Homo sapiens_hsa04350	0.52590895
78	Tryptophan metabolism_Homo sapiens_hsa00380	0.50323322
79	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.49744078
80	Glycerolipid metabolism_Homo sapiens_hsa00561	0.48235910
81	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.47803485
82	Prostate cancer_Homo sapiens_hsa05215	0.47577454
83	beta-Alanine metabolism_Homo sapiens_hsa00410	0.45526710
84	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.44441813
85	Small cell lung cancer_Homo sapiens_hsa05222	0.44406536
86	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.40126279
87	Cysteine and methionine metabolism_Homo sapiens_hsa00270	0.39136265
88	Fatty acid degradation_Homo sapiens_hsa00071	0.37565964
89	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.37267832
90	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	0.37165181
91	MicroRNAs in cancer_Homo sapiens_hsa05206	0.35229690
92	Hippo signaling pathway_Homo sapiens_hsa04390	0.34196612
93	Thyroid hormone signaling pathway_Homo sapiens_hsa04919	0.30884447
94	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.30836117
95	Peroxisome_Homo sapiens_hsa04146	0.30663246
96	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.29360055
97	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.28650678
98	mRNA surveillance pathway_Homo sapiens_hsa03015	0.28355624
99	Sphingolipid signaling pathway_Homo sapiens_hsa04071	0.28031311
100	ErbB signaling pathway_Homo sapiens_hsa04012	0.26925489

CTAGE8

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)

Most similar genes based on co-expression Upload to Enrichr

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