ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of plasminogen activation (GO:0010755)	9.47322024
2	homocysteine metabolic process (GO:0050667)	9.06388717
3	folic acid-containing compound biosynthetic process (GO:0009396)	8.86424087
4	desmosome organization (GO:0002934)	8.09427285
5	sulfur amino acid catabolic process (GO:0000098)	7.29275670
6	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	7.20898021
7	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	7.20898021
8	cysteine metabolic process (GO:0006534)	7.02595519
9	pteridine-containing compound biosynthetic process (GO:0042559)	6.72076946
10	white fat cell differentiation (GO:0050872)	6.58006209
11	purine nucleotide salvage (GO:0032261)	6.51881341
12	adenosine metabolic process (GO:0046085)	6.50734312
13	epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)	6.01876726
14	microtubule nucleation (GO:0007020)	5.89339116
15	negative regulation of keratinocyte proliferation (GO:0010839)	5.57000054
16	regulation of branching involved in salivary gland morphogenesis (GO:0060693)	5.53513301
17	COPII vesicle coating (GO:0048208)	5.31017587
18	regulation of vitamin D biosynthetic process (GO:0060556)	5.27082938
19	inner ear receptor cell development (GO:0060119)	5.13106389
20	negative regulation of DNA biosynthetic process (GO:2000279)	5.12587029
21	protein-chromophore linkage (GO:0018298)	5.11896757
22	positive regulation of endothelial cell differentiation (GO:0045603)	4.98191327
23	alternative mRNA splicing, via spliceosome (GO:0000380)	4.94223127
24	regulation of gonadotropin secretion (GO:0032276)	4.86900505
25	galactose metabolic process (GO:0006012)	4.84667798
26	tetrahydrofolate metabolic process (GO:0046653)	4.70562160
27	mitochondrial RNA metabolic process (GO:0000959)	4.56144348
28	galactose catabolic process (GO:0019388)	4.50256207
29	response to lipoprotein particle (GO:0055094)	4.47039295
30	folic acid-containing compound metabolic process (GO:0006760)	4.41284678
31	regulation of vitamin metabolic process (GO:0030656)	4.38284217
32	IMP biosynthetic process (GO:0006188)	4.27183546
33	regulation of tight junction assembly (GO:2000810)	4.23831570
34	negative regulation of Ras GTPase activity (GO:0034261)	4.23333719
35	pathway-restricted SMAD protein phosphorylation (GO:0060389)	4.19665766
36	cell migration involved in heart development (GO:0060973)	4.08852344
37	peptidyl-proline hydroxylation (GO:0019511)	4.05757157
38	pteridine-containing compound metabolic process (GO:0042558)	4.05561084
39	cartilage morphogenesis (GO:0060536)	4.03141515
40	cochlea development (GO:0090102)	3.97971714
41	rRNA methylation (GO:0031167)	3.97586479
42	L-serine metabolic process (GO:0006563)	3.95490498
43	platelet dense granule organization (GO:0060155)	3.82122140
44	negative regulation of catenin import into nucleus (GO:0035414)	3.76532834
45	acrosome assembly (GO:0001675)	3.74538811
46	primary amino compound metabolic process (GO:1901160)	3.68780739
47	4-hydroxyproline metabolic process (GO:0019471)	3.67898523
48	negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)	3.67548046
49	regulation of sequestering of triglyceride (GO:0010889)	3.66869212
50	serine family amino acid biosynthetic process (GO:0009070)	3.62011881
51	negative regulation of acute inflammatory response (GO:0002674)	3.56465149
52	organic cation transport (GO:0015695)	3.51846961
53	protein hydroxylation (GO:0018126)	3.51623945
54	regulation of endothelial cell differentiation (GO:0045601)	3.49934134
55	histone H4-K12 acetylation (GO:0043983)	3.47674300
56	IMP metabolic process (GO:0046040)	3.47118924
57	aminoglycoside antibiotic metabolic process (GO:0030647)	3.44473222
58	sulfur amino acid biosynthetic process (GO:0000097)	3.42969648
59	phosphatidylglycerol biosynthetic process (GO:0006655)	3.39335838
60	protein-cofactor linkage (GO:0018065)	3.32800460
61	nucleoside transmembrane transport (GO:1901642)	3.31768679
62	nucleotide salvage (GO:0043173)	3.24637609
63	hepatocyte apoptotic process (GO:0097284)	3.23187356
64	innervation (GO:0060384)	3.19810174
65	response to vitamin A (GO:0033189)	3.19677420
66	activin receptor signaling pathway (GO:0032924)	3.16802161
67	energy homeostasis (GO:0097009)	3.16648794
68	one-carbon metabolic process (GO:0006730)	3.15233460
69	negative regulation of alcohol biosynthetic process (GO:1902931)	3.13950303
70	negative regulation of macrophage derived foam cell differentiation (GO:0010745)	3.13097748
71	neural crest cell development (GO:0014032)	3.11459333
72	purine-containing compound salvage (GO:0043101)	3.09816172
73	cellular response to zinc ion (GO:0071294)	3.07199356
74	rRNA modification (GO:0000154)	3.06160519
75	regulation of keratinocyte proliferation (GO:0010837)	3.05259988
76	negative regulation of anoikis (GO:2000811)	3.02016382
77	negative regulation of chondrocyte differentiation (GO:0032331)	3.00248157
78	negative regulation of stem cell proliferation (GO:2000647)	2.99928129
79	glycoside metabolic process (GO:0016137)	2.99673934
80	heme transport (GO:0015886)	2.98453405
81	sulfur amino acid metabolic process (GO:0000096)	2.97632116
82	cardiac epithelial to mesenchymal transition (GO:0060317)	2.96833200
83	photoreceptor cell differentiation (GO:0046530)	2.96301095
84	eye photoreceptor cell differentiation (GO:0001754)	2.96301095
85	folic acid transport (GO:0015884)	2.94413437
86	positive regulation of glycolytic process (GO:0045821)	2.91909195
87	retinol metabolic process (GO:0042572)	2.89326497
88	tRNA modification (GO:0006400)	2.87802175
89	regulation of antigen processing and presentation of peptide antigen (GO:0002583)	2.81090798
90	regulation of metalloenzyme activity (GO:0048552)	2.80545304
91	protein targeting to vacuole (GO:0006623)	2.80027218
92	protein targeting to lysosome (GO:0006622)	2.80027218
93	establishment of protein localization to vacuole (GO:0072666)	2.80027218
94	regulation of cholesterol storage (GO:0010885)	2.78326139
95	negative regulation of steroid biosynthetic process (GO:0010894)	2.77880275
96	negative regulation of telomerase activity (GO:0051974)	2.77556428
97	nucleotide-sugar metabolic process (GO:0009225)	2.77556353
98	endocrine pancreas development (GO:0031018)	2.76382017
99	ER to Golgi vesicle-mediated transport (GO:0006888)	2.74146929
100	indolalkylamine catabolic process (GO:0046218)	2.73576886

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	8.56114914
2	IRF8_22096565_ChIP-ChIP_GC-B_Human	3.18369526
3	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	2.83706439
4	VDR_22108803_ChIP-Seq_LS180_Human	2.78749900
5	SMAD_19615063_ChIP-ChIP_OVARY_Human	2.59354868
6	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	2.57003068
7	CDX2_22108803_ChIP-Seq_LS180_Human	2.47707833
8	AR_21909140_ChIP-Seq_LNCAP_Human	2.16508262
9	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	2.15162981
10	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.13091930
11	SOX2_20726797_ChIP-Seq_SW620_Human	2.08438983
12	HIF1A_21447827_ChIP-Seq_MCF-7_Human	2.04092066
13	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.86196924
14	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.85021928
15	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.79649030
16	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.71149341
17	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.69829973
18	ZNF274_21170338_ChIP-Seq_K562_Hela	1.69025807
19	GBX2_23144817_ChIP-Seq_PC3_Human	1.68907560
20	BCAT_22108803_ChIP-Seq_LS180_Human	1.63675100
21	RXR_22158963_ChIP-Seq_LIVER_Mouse	1.63416159
22	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.62964516
23	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.56546647
24	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.56515637
25	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.55086728
26	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.53492596
27	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.51753581
28	CJUN_26792858_Chip-Seq_BT549_Human	1.50664899
29	FUS_26573619_Chip-Seq_HEK293_Human	1.50009574
30	P300_19829295_ChIP-Seq_ESCs_Human	1.43592480
31	GATA4_25053715_ChIP-Seq_YYC3_Human	1.42564978
32	TCF4_18268006_ChIP-ChIP_LS174T_Human	1.38777436
33	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.37925548
34	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.36850359
35	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.35909564
36	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	1.35370083
37	LXR_22158963_ChIP-Seq_LIVER_Mouse	1.34642792
38	STAT3_23295773_ChIP-Seq_U87_Human	1.31632193
39	PCGF2_27294783_Chip-Seq_NPCs_Mouse	1.27546334
40	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.26498373
41	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	1.25769367
42	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	1.25769367
43	FOXM1_26456572_ChIP-Seq_MCF-7_Human	1.24911601
44	CTNNB1_20460455_ChIP-Seq_HCT116_Human	1.24760413
45	TRIM28_21343339_ChIP-Seq_HEK293_Human	1.24454596
46	TP53_22573176_ChIP-Seq_HFKS_Human	1.20875933
47	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	1.20837851
48	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.20552417
49	TCF4_22108803_ChIP-Seq_LS180_Human	1.20196101
50	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	1.18847100
51	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.18356967
52	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.18103004
53	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.17312899
54	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.16702398
55	NCOR_22424771_ChIP-Seq_293T_Human	1.16359835
56	GATA2_21666600_ChIP-Seq_HMVEC_Human	1.16062563
57	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.15729939
58	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.15531753
59	ELK1_19687146_ChIP-ChIP_HELA_Human	1.15032266
60	SALL4_18804426_ChIP-ChIP_XEN_Mouse	1.14834942
61	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.14718500
62	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.13528676
63	BRD4_25478319_ChIP-Seq_HGPS_Human	1.13170027
64	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	1.12649062
65	FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human	1.12269182
66	TP63_23658742_ChIP-Seq_EP156T_Human	1.10342946
67	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.10301365
68	EWS_26573619_Chip-Seq_HEK293_Human	1.09650153
69	FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.09427154
70	SOX9_26525672_Chip-Seq_Limbbuds_Mouse	1.08569288
71	SOX2_19829295_ChIP-Seq_ESCs_Human	1.07764491
72	NANOG_19829295_ChIP-Seq_ESCs_Human	1.07764491
73	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.07600628
74	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	1.07329829
75	PPARA_22158963_ChIP-Seq_LIVER_Mouse	1.06619429
76	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.05034838
77	STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse	1.04752913
78	RUNX2_22187159_ChIP-Seq_PCA_Human	1.04488851
79	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.04447320
80	ER_23166858_ChIP-Seq_MCF-7_Human	1.04411659
81	TP53_18474530_ChIP-ChIP_U2OS_Human	1.04037684
82	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.03890474
83	TP53_16413492_ChIP-PET_HCT116_Human	1.03076160
84	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.02926598
85	GATA3_24758297_ChIP-Seq_MCF-7_Human	0.99303516
86	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	0.99258577
87	Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse	0.99181522
88	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	0.98848761
89	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	0.98759581
90	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.98743118
91	SMAD4_21799915_ChIP-Seq_A2780_Human	0.98661646
92	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.97811048
93	KDM2B_26808549_Chip-Seq_REH_Human	0.97330302
94	AHR_22903824_ChIP-Seq_MCF-7_Human	0.97093115
95	TP63_17297297_ChIP-ChIP_HaCaT_Human	0.97003220
96	NANOG_18555785_Chip-Seq_ESCs_Mouse	0.96806586
97	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	0.96689983
98	OCT4_21477851_ChIP-Seq_ESCs_Mouse	0.96413106
99	THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse	0.94416790
100	HOXB7_26014856_ChIP-Seq_BT474_Human	0.94153959

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0005360_urolithiasis	5.57663225
2	MP0005670_abnormal_white_adipose	4.26096747
3	MP0000013_abnormal_adipose_tissue	4.11515444
4	MP0005646_abnormal_pituitary_gland	3.92022166
5	MP0003183_abnormal_peptide_metabolism	3.61588981
6	MP0003705_abnormal_hypodermis_morpholog	3.55447495
7	MP0001661_extended_life_span	3.05785084
8	MP0008995_early_reproductive_senescence	2.91413364
9	MP0002938_white_spotting	2.84255746
10	MP0010234_abnormal_vibrissa_follicle	2.66376931
11	MP0000516_abnormal_urinary_system	2.57270353
12	MP0005367_renal/urinary_system_phenotyp	2.57270353
13	MP0003195_calcinosis	2.52175513
14	MP0004885_abnormal_endolymph	2.46246721
15	MP0002138_abnormal_hepatobiliary_system	2.41957559
16	MP0002396_abnormal_hematopoietic_system	2.37030505
17	MP0009780_abnormal_chondrocyte_physiolo	2.34257545
18	MP0003724_increased_susceptibility_to	2.33233293
19	MP0005332_abnormal_amino_acid	2.23949455
20	MP0002139_abnormal_hepatobiliary_system	2.19069758
21	MP0000003_abnormal_adipose_tissue	2.07093814
22	MP0003806_abnormal_nucleotide_metabolis	2.06698064
23	MP0004043_abnormal_pH_regulation	2.04101349
24	MP0004147_increased_porphyrin_level	2.04072686
25	MP0003950_abnormal_plasma_membrane	1.90851903
26	MP0002876_abnormal_thyroid_physiology	1.74639593
27	MP0008872_abnormal_physiological_respon	1.73327119
28	MP0003186_abnormal_redox_activity	1.70871011
29	MP0000371_diluted_coat_color	1.69432829
30	MP0003252_abnormal_bile_duct	1.63277445
31	MP0001944_abnormal_pancreas_morphology	1.56387509
32	MP0000647_abnormal_sebaceous_gland	1.54999570
33	MP0005164_abnormal_response_to	1.54402408
34	MP0002132_abnormal_respiratory_system	1.53531269
35	MP0002095_abnormal_skin_pigmentation	1.53391068
36	MP0001764_abnormal_homeostasis	1.46943595
37	MP0001756_abnormal_urination	1.45621012
38	MP0005085_abnormal_gallbladder_physiolo	1.44873076
39	MP0002736_abnormal_nociception_after	1.44746199
40	MP0003045_fibrosis	1.44544384
41	MP0003786_premature_aging	1.36059547
42	MP0009697_abnormal_copulation	1.36033096
43	MP0002295_abnormal_pulmonary_circulatio	1.33432257
44	MP0005551_abnormal_eye_electrophysiolog	1.31551587
45	MP0004185_abnormal_adipocyte_glucose	1.30787816
46	MP0004019_abnormal_vitamin_homeostasis	1.27122392
47	MP0010678_abnormal_skin_adnexa	1.26589768
48	MP0002163_abnormal_gland_morphology	1.16617617
49	MP0005365_abnormal_bile_salt	1.08332743
50	MP0009643_abnormal_urine_homeostasis	1.07629494
51	MP0005220_abnormal_exocrine_pancreas	1.07054546
52	MP0006054_spinal_hemorrhage	1.06804604
53	MP0002006_tumorigenesis	1.06336939
54	MP0008875_abnormal_xenobiotic_pharmacok	1.05874016
55	MP0001270_distended_abdomen	1.03435403
56	MP0005636_abnormal_mineral_homeostasis	1.02649973
57	MP0000534_abnormal_ureter_morphology	0.99192218
58	MP0005408_hypopigmentation	0.96755025
59	MP0005084_abnormal_gallbladder_morpholo	0.96277885
60	MP0005253_abnormal_eye_physiology	0.95061745
61	MP0001851_eye_inflammation	0.93186773
62	MP0010329_abnormal_lipoprotein_level	0.89546587
63	MP0002078_abnormal_glucose_homeostasis	0.87585299
64	MP0001216_abnormal_epidermal_layer	0.86320040
65	MP0005379_endocrine/exocrine_gland_phen	0.85443148
66	MP0002160_abnormal_reproductive_system	0.83590875
67	MP0002693_abnormal_pancreas_physiology	0.82753181
68	MP0005376_homeostasis/metabolism_phenot	0.82394133
69	MP0000613_abnormal_salivary_gland	0.81651043
70	MP0000762_abnormal_tongue_morphology	0.78292830
71	MP0001666_abnormal_nutrient_absorption	0.78143032
72	MP0002060_abnormal_skin_morphology	0.77505692
73	MP0000538_abnormal_urinary_bladder	0.73845272
74	MP0003011_delayed_dark_adaptation	0.72468625
75	MP0002837_dystrophic_cardiac_calcinosis	0.71404855
76	MP0002168_other_aberrant_phenotype	0.71324679
77	MP0002909_abnormal_adrenal_gland	0.67876586
78	MP0003868_abnormal_feces_composition	0.67279817
79	MP0002166_altered_tumor_susceptibility	0.64396731
80	MP0002075_abnormal_coat/hair_pigmentati	0.63032290
81	MP0001324_abnormal_eye_pigmentation	0.62773579
82	MP0003953_abnormal_hormone_level	0.60354866
83	MP0006072_abnormal_retinal_apoptosis	0.60261521
84	MP0000372_irregular_coat_pigmentation	0.60054412
85	MP0003890_abnormal_embryonic-extraembry	0.59414241
86	MP0004272_abnormal_basement_membrane	0.58518322
87	MP0000367_abnormal_coat/_hair	0.58335539
88	MP0002069_abnormal_eating/drinking_beha	0.57797069
89	MP0002136_abnormal_kidney_physiology	0.57775465
90	MP0002254_reproductive_system_inflammat	0.57426514
91	MP0005410_abnormal_fertilization	0.55237640
92	MP0000631_abnormal_neuroendocrine_gland	0.53821371
93	MP0001186_pigmentation_phenotype	0.53109913
94	MP0004233_abnormal_muscle_weight	0.52281957
95	MP0000627_abnormal_mammary_gland	0.52257368
96	MP0005319_abnormal_enzyme/_coenzyme	0.52136035
97	MP0009115_abnormal_fat_cell	0.51771321
98	MP0003942_abnormal_urinary_system	0.51187198
99	MP0000639_abnormal_adrenal_gland	0.50607677
100	MP0005389_reproductive_system_phenotype	0.50560535

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Abnormality of pyruvate family amino acid metabolism (HP:0010915)	8.32122147
2	Abnormality of alanine metabolism (HP:0010916)	8.32122147
3	Hyperalaninemia (HP:0003348)	8.32122147
4	Congenital sensorineural hearing impairment (HP:0008527)	6.30229069
5	Constricted visual fields (HP:0001133)	5.99804916
6	Esophageal varix (HP:0002040)	5.61376648
7	Spontaneous hematomas (HP:0007420)	4.73760988
8	Abnormality of the fetal cardiovascular system (HP:0010948)	4.70564852
9	Abnormal umbilical cord blood vessels (HP:0011403)	4.70564852
10	Single umbilical artery (HP:0001195)	4.70564852
11	White forelock (HP:0002211)	4.60524413
12	Patchy hypopigmentation of hair (HP:0011365)	4.27265840
13	Myocardial infarction (HP:0001658)	4.14511543
14	Decreased electroretinogram (ERG) amplitude (HP:0000654)	3.99036246
15	Abnormality of homocysteine metabolism (HP:0010919)	3.93419288
16	Homocystinuria (HP:0002156)	3.93419288
17	Conjugated hyperbilirubinemia (HP:0002908)	3.91777648
18	Anorexia (HP:0002039)	3.74342673
19	Action tremor (HP:0002345)	3.63016806
20	Conjunctival telangiectasia (HP:0000524)	3.55499277
21	Hypoalphalipoproteinemia (HP:0003233)	3.24779563
22	Abnormality of sulfur amino acid metabolism (HP:0004339)	3.19908081
23	Abnormality of serum amino acid levels (HP:0003112)	3.12813504
24	Pigmentary retinal degeneration (HP:0001146)	3.02322728
25	Birth length less than 3rd percentile (HP:0003561)	3.01490159
26	Fatigue (HP:0012378)	2.97874617
27	Heterochromia iridis (HP:0001100)	2.94619972
28	Abnormality of the vasculature of the conjunctiva (HP:0008054)	2.94481456
29	Abnormality of the umbilical cord (HP:0010881)	2.92000570
30	Pulmonary embolism (HP:0002204)	2.91248146
31	Poor speech (HP:0002465)	2.91027700
32	Chorioretinal atrophy (HP:0000533)	2.78333181
33	Attenuation of retinal blood vessels (HP:0007843)	2.73188948
34	Visceral angiomatosis (HP:0100761)	2.71899023
35	Generalized aminoaciduria (HP:0002909)	2.70683655
36	Hyperglycemia (HP:0003074)	2.67123801
37	Ileus (HP:0002595)	2.54887897
38	Insulin-resistant diabetes mellitus (HP:0000831)	2.50771773
39	Symptomatic seizures (HP:0011145)	2.49587609
40	Hemangiomatosis (HP:0007461)	2.43668656
41	Epidermoid cyst (HP:0200040)	2.42395543
42	Hypolipoproteinemia (HP:0010981)	2.42204048
43	Reduced subcutaneous adipose tissue (HP:0003758)	2.41647837
44	Toxemia of pregnancy (HP:0100603)	2.38803369
45	Cone-rod dystrophy (HP:0000548)	2.29853066
46	Abnormal tarsal ossification (HP:0008369)	2.29390295
47	Oligomenorrhea (HP:0000876)	2.28950136
48	Hypopigmentation of the fundus (HP:0007894)	2.27170222
49	Abnormality of the level of lipoprotein cholesterol (HP:0010979)	2.27148057
50	Cavernous hemangioma (HP:0001048)	2.26404858
51	Thrombophlebitis (HP:0004418)	2.25506708
52	Chronic otitis media (HP:0000389)	2.22336413
53	Postural tremor (HP:0002174)	2.21445323
54	Arteriovenous malformation (HP:0100026)	2.17770430
55	Metaphyseal dysplasia (HP:0100255)	2.11734377
56	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.10699238
57	Duplicated collecting system (HP:0000081)	2.08967448
58	Proximal tubulopathy (HP:0000114)	2.07953561
59	Portal hypertension (HP:0001409)	2.07500136
60	Disproportionate short-trunk short stature (HP:0003521)	2.04316434
61	Abnormalities of placenta or umbilical cord (HP:0001194)	2.02533078
62	Biconcave vertebral bodies (HP:0004586)	1.99418438
63	Increased serum pyruvate (HP:0003542)	1.95854736
64	Cortical visual impairment (HP:0100704)	1.95632387
65	Gingival bleeding (HP:0000225)	1.94818062
66	Megaloblastic anemia (HP:0001889)	1.94787388
67	Abnormality of glycolysis (HP:0004366)	1.94252896
68	Brittle hair (HP:0002299)	1.93946664
69	Abnormality of the renal collecting system (HP:0004742)	1.93473192
70	Maternal diabetes (HP:0009800)	1.93441411
71	Chronic hepatic failure (HP:0100626)	1.91370581
72	Arterial thrombosis (HP:0004420)	1.91332504
73	Abnormality of methionine metabolism (HP:0010901)	1.90906918
74	Vascular calcification (HP:0004934)	1.89178468
75	Pendular nystagmus (HP:0012043)	1.88958498
76	Intrahepatic cholestasis (HP:0001406)	1.88842760
77	Chromosomal breakage induced by crosslinking agents (HP:0003221)	1.85622044
78	Ketoacidosis (HP:0001993)	1.84899317
79	Methylmalonic acidemia (HP:0002912)	1.84727020
80	Abnormality of the hepatic vasculature (HP:0006707)	1.84419494
81	Focal segmental glomerulosclerosis (HP:0000097)	1.83304831
82	Decreased subcutaneous fat (HP:0001002)	1.82863886
83	Increased corneal curvature (HP:0100692)	1.80855799
84	Keratoconus (HP:0000563)	1.80855799
85	Hypomagnesemia (HP:0002917)	1.80714579
86	Hepatocellular carcinoma (HP:0001402)	1.78283899
87	Glucose intolerance (HP:0000833)	1.77905955
88	Tubulointerstitial nephritis (HP:0001970)	1.76740943
89	Nausea (HP:0002018)	1.74341491
90	Chromsome breakage (HP:0040012)	1.72749514
91	Small for gestational age (HP:0001518)	1.71247250
92	Increased purine levels (HP:0004368)	1.68277407
93	Hyperuricemia (HP:0002149)	1.68277407
94	Pustule (HP:0200039)	1.68253858
95	Metabolic acidosis (HP:0001942)	1.66571050
96	Cardiovascular calcification (HP:0011915)	1.66486604
97	Abnormality of subcutaneous fat tissue (HP:0001001)	1.66168662
98	Hyperphosphaturia (HP:0003109)	1.62112064
99	Mucosal telangiectasiae (HP:0100579)	1.61704059
100	Abnormal foot bone ossification (HP:0010675)	1.57411324

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	MAP3K3	5.31645337
2	ACVR1B	4.59721369
3	FRK	4.17639516
4	MAP2K3	3.52981843
5	FGR	3.00385146
6	LMTK2	2.88473045
7	MST4	2.69072564
8	JAK3	2.66317339
9	CDK9	2.58069236
10	EIF2AK3	2.40051013
11	RPS6KB2	2.17969889
12	SGK223	2.07519580
13	SGK494	2.07519580
14	SGK2	1.95170340
15	MST1R	1.94748796
16	FGFR2	1.73703742
17	SGK3	1.68364662
18	EIF2AK1	1.64444349
19	EPHB2	1.63174558
20	CCNB1	1.57104934
21	STK39	1.56873835
22	NTRK3	1.44230440
23	NTRK2	1.43255133
24	MAP4K2	1.41913724
25	ADRBK1	1.33407623
26	STK3	1.29972903
27	FLT3	1.26131047
28	TRIM28	1.24216487
29	PKN2	1.21923581
30	BRSK2	1.21181698
31	STK24	1.17320702
32	BMPR1B	1.16494968
33	FGFR3	1.14837875
34	MAP2K1	1.10618370
35	GRK1	1.10492715
36	PRKCE	1.06023458
37	PLK2	1.03197488
38	TAF1	1.02817765
39	TRPM7	0.99938457
40	MAP3K12	0.97730795
41	EPHA2	0.96305318
42	STK10	0.95289428
43	MAP3K2	0.94592783
44	NUAK1	0.89386540
45	PAK4	0.88098713
46	STK38L	0.88053289
47	NEK6	0.87290624
48	ERBB3	0.85526067
49	PRKCI	0.85060618
50	INSRR	0.81611265
51	ADRBK2	0.81372109
52	FGFR1	0.80686784
53	CSNK1A1	0.79602603
54	AKT3	0.78118219
55	WNK4	0.76853253
56	OXSR1	0.76845530
57	WNK3	0.74006696
58	MET	0.73505603
59	YES1	0.72257907
60	FER	0.69970831
61	PLK3	0.68162160
62	PTK2	0.65771653
63	CAMK2D	0.64945674
64	SIK3	0.62022541
65	BCR	0.61479289
66	MAP3K9	0.61021958
67	RPS6KB1	0.57301905
68	TNIK	0.55974079
69	NLK	0.52506060
70	IRAK3	0.52070131
71	PHKG1	0.51695898
72	PHKG2	0.51695898
73	MKNK2	0.50387087
74	EIF2AK2	0.49486661
75	TGFBR2	0.48557886
76	HIPK2	0.48372276
77	SGK1	0.47021496
78	PAK3	0.46952825
79	IKBKB	0.46900693
80	PRKG2	0.44199540
81	PRKCQ	0.43987320
82	GSK3A	0.43794121
83	PTK2B	0.43568117
84	EGFR	0.41441593
85	INSR	0.33767226
86	BRSK1	0.33267610
87	WEE1	0.32841384
88	PTK6	0.32747114
89	PIK3CA	0.32625334
90	PRKAA2	0.31659760
91	NEK1	0.28040533
92	PRKCD	0.27067953
93	ERBB4	0.26938551
94	PRKAA1	0.25447681
95	MAPKAPK3	0.23837020
96	PRKCA	0.22799798
97	JAK2	0.20763114
98	MELK	0.20095018
99	ABL1	0.20093760
100	CSNK1G1	0.18353993

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	4.83902477
2	Sulfur metabolism_Homo sapiens_hsa00920	4.76276398
3	One carbon pool by folate_Homo sapiens_hsa00670	4.73424338
4	Arginine biosynthesis_Homo sapiens_hsa00220	3.60594908
5	Collecting duct acid secretion_Homo sapiens_hsa04966	3.16937239
6	Selenocompound metabolism_Homo sapiens_hsa00450	2.80728271
7	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	2.63627024
8	Galactose metabolism_Homo sapiens_hsa00052	2.43074749
9	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	2.14304794
10	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	2.12568203
11	Protein export_Homo sapiens_hsa03060	1.99708338
12	Nitrogen metabolism_Homo sapiens_hsa00910	1.87028480
13	Vibrio cholerae infection_Homo sapiens_hsa05110	1.82662459
14	Complement and coagulation cascades_Homo sapiens_hsa04610	1.64547358
15	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.63929129
16	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.61012131
17	Vitamin digestion and absorption_Homo sapiens_hsa04977	1.50315186
18	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.49680935
19	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.48438463
20	Other glycan degradation_Homo sapiens_hsa00511	1.46509954
21	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	1.42016468
22	Sulfur relay system_Homo sapiens_hsa04122	1.40321358
23	Regulation of autophagy_Homo sapiens_hsa04140	1.39379224
24	GABAergic synapse_Homo sapiens_hsa04727	1.34679109
25	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.33432986
26	Retinol metabolism_Homo sapiens_hsa00830	1.30441779
27	Mineral absorption_Homo sapiens_hsa04978	1.17700959
28	Folate biosynthesis_Homo sapiens_hsa00790	1.16348425
29	Morphine addiction_Homo sapiens_hsa05032	1.16273828
30	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.11696439
31	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.09184434
32	Butanoate metabolism_Homo sapiens_hsa00650	1.08852600
33	Proteasome_Homo sapiens_hsa03050	1.05384662
34	Ether lipid metabolism_Homo sapiens_hsa00565	1.04779414
35	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.99761004
36	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.98113065
37	Sphingolipid metabolism_Homo sapiens_hsa00600	0.97100149
38	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.95321796
39	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.94473448
40	Serotonergic synapse_Homo sapiens_hsa04726	0.93732568
41	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.92221089
42	Arginine and proline metabolism_Homo sapiens_hsa00330	0.89934400
43	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.89896601
44	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.89811361
45	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.89441144
46	Rheumatoid arthritis_Homo sapiens_hsa05323	0.89026158
47	Cyanoamino acid metabolism_Homo sapiens_hsa00460	0.84928745
48	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.84430385
49	ABC transporters_Homo sapiens_hsa02010	0.82012518
50	Steroid biosynthesis_Homo sapiens_hsa00100	0.80622961
51	Peroxisome_Homo sapiens_hsa04146	0.78581461
52	RNA degradation_Homo sapiens_hsa03018	0.77726773
53	Caffeine metabolism_Homo sapiens_hsa00232	0.75108401
54	Chemical carcinogenesis_Homo sapiens_hsa05204	0.74280250
55	Propanoate metabolism_Homo sapiens_hsa00640	0.74158666
56	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.73749930
57	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.70998164
58	Tryptophan metabolism_Homo sapiens_hsa00380	0.69933776
59	Basal transcription factors_Homo sapiens_hsa03022	0.69006542
60	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	0.67244796
61	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.66687122
62	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.66428903
63	Nicotine addiction_Homo sapiens_hsa05033	0.66291446
64	Other types of O-glycan biosynthesis_Homo sapiens_hsa00514	0.65419359
65	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	0.65126081
66	Fat digestion and absorption_Homo sapiens_hsa04975	0.62213110
67	Steroid hormone biosynthesis_Homo sapiens_hsa00140	0.61441648
68	Dopaminergic synapse_Homo sapiens_hsa04728	0.60581033
69	Metabolic pathways_Homo sapiens_hsa01100	0.57309695
70	Synaptic vesicle cycle_Homo sapiens_hsa04721	0.55238541
71	Glutamatergic synapse_Homo sapiens_hsa04724	0.55114717
72	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.53622528
73	Glutathione metabolism_Homo sapiens_hsa00480	0.50169329
74	Thyroid cancer_Homo sapiens_hsa05216	0.47703647
75	mRNA surveillance pathway_Homo sapiens_hsa03015	0.47361375
76	PPAR signaling pathway_Homo sapiens_hsa03320	0.44620458
77	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.41210787
78	Glycerophospholipid metabolism_Homo sapiens_hsa00564	0.40410838
79	Legionellosis_Homo sapiens_hsa05134	0.40315752
80	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.39870773
81	Type I diabetes mellitus_Homo sapiens_hsa04940	0.39713212
82	Linoleic acid metabolism_Homo sapiens_hsa00591	0.37586264
83	Circadian rhythm_Homo sapiens_hsa04710	0.37164982
84	African trypanosomiasis_Homo sapiens_hsa05143	0.34632510
85	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.34328341
86	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.31865468
87	Homologous recombination_Homo sapiens_hsa03440	0.30864386
88	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.30625835
89	Circadian entrainment_Homo sapiens_hsa04713	0.28745539
90	Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060	0.28403638
91	Adherens junction_Homo sapiens_hsa04520	0.26401888
92	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.23661563
93	NOD-like receptor signaling pathway_Homo sapiens_hsa04621	0.22944827
94	Taste transduction_Homo sapiens_hsa04742	0.21750931
95	Pertussis_Homo sapiens_hsa05133	0.21133549
96	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.19845452
97	Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa04750	0.18286534
98	Carbon metabolism_Homo sapiens_hsa01200	0.16920288
99	PI3K-Akt signaling pathway_Homo sapiens_hsa04151	0.16793416
100	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.16576074

ERO1A

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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