ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	regulation of type B pancreatic cell apoptotic process (GO:2000674)	7.68171164
2	regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902235	7.24468103
3	endocrine pancreas development (GO:0031018)	6.28861355
4	positive regulation of glycolytic process (GO:0045821)	5.86761147
5	regulation of hexokinase activity (GO:1903299)	5.71946838
6	regulation of glucokinase activity (GO:0033131)	5.71946838
7	nitric oxide mediated signal transduction (GO:0007263)	5.20101526
8	insulin secretion (GO:0030073)	5.10530453
9	negative regulation of gluconeogenesis (GO:0045721)	5.06600118
10	glandular epithelial cell differentiation (GO:0002067)	4.96787448
11	positive regulation of insulin secretion (GO:0032024)	4.76874237
12	type B pancreatic cell development (GO:0003323)	4.76803452
13	cellular ketone body metabolic process (GO:0046950)	4.70271838
14	inositol phosphate catabolic process (GO:0071545)	4.68691878
15	negative regulation of protein oligomerization (GO:0032460)	4.67944928
16	positive regulation of peptide hormone secretion (GO:0090277)	4.60603137
17	positive regulation of peptide secretion (GO:0002793)	4.42707409
18	inositol phosphate dephosphorylation (GO:0046855)	4.42081514
19	phosphorylated carbohydrate dephosphorylation (GO:0046838)	4.42081514
20	detection of calcium ion (GO:0005513)	4.35405580
21	positive regulation of respiratory burst (GO:0060267)	4.24782314
22	fatty acid homeostasis (GO:0055089)	4.21436913
23	peptide hormone processing (GO:0016486)	4.21100572
24	negative regulation of acute inflammatory response (GO:0002674)	4.19158008
25	signal peptide processing (GO:0006465)	4.16570607
26	ketone body metabolic process (GO:1902224)	4.14712531
27	lactate metabolic process (GO:0006089)	4.06221428
28	epithelial cell fate commitment (GO:0072148)	3.97375411
29	regulation of insulin secretion (GO:0050796)	3.91530558
30	macroautophagy (GO:0016236)	3.90073380
31	negative regulation of hormone biosynthetic process (GO:0032353)	3.88516510
32	glycerophospholipid catabolic process (GO:0046475)	3.88146791
33	chemosensory behavior (GO:0007635)	3.87154557
34	positive regulation of calcium ion-dependent exocytosis (GO:0045956)	3.77450899
35	positive regulation of glycogen biosynthetic process (GO:0045725)	3.76791344
36	negative regulation of glycogen metabolic process (GO:0070874)	3.69444553
37	zinc ion homeostasis (GO:0055069)	3.67600627
38	polyol catabolic process (GO:0046174)	3.65322541
39	regulation of peptide hormone secretion (GO:0090276)	3.61333884
40	positive regulation of protein autophosphorylation (GO:0031954)	3.59996215
41	response to dietary excess (GO:0002021)	3.58506567
42	regulation of peptide secretion (GO:0002791)	3.53378620
43	exocrine pancreas development (GO:0031017)	3.51194543
44	peptide hormone secretion (GO:0030072)	3.49244671
45	positive regulation of hormone secretion (GO:0046887)	3.48868613
46	positive regulation of macroautophagy (GO:0016239)	3.43538750
47	L-alpha-amino acid transmembrane transport (GO:1902475)	3.42463411
48	negative regulation of hormone metabolic process (GO:0032351)	3.38869913
49	glandular epithelial cell development (GO:0002068)	3.38125914
50	peptide secretion (GO:0002790)	3.35397181
51	nucleoside diphosphate catabolic process (GO:0009134)	3.30660826
52	water-soluble vitamin biosynthetic process (GO:0042364)	3.21474772
53	positive regulation of glycogen metabolic process (GO:0070875)	3.21448010
54	regulation of hormone secretion (GO:0046883)	3.19820419
55	regulation of glycolytic process (GO:0006110)	3.17701410
56	negative regulation of neurological system process (GO:0031645)	3.17599561
57	positive regulation of nitric-oxide synthase activity (GO:0051000)	3.16769550
58	negative regulation of cytosolic calcium ion concentration (GO:0051481)	3.13764204
59	nodal signaling pathway (GO:0038092)	3.10955086
60	positive regulation of response to nutrient levels (GO:0032109)	3.08289404
61	positive regulation of response to extracellular stimulus (GO:0032106)	3.08289404
62	positive regulation of insulin receptor signaling pathway (GO:0046628)	3.03251227
63	response to glucose (GO:0009749)	3.02558847
64	positive regulation of calcium ion import (GO:0090280)	2.89890612
65	regulation of peptide transport (GO:0090087)	2.89619442
66	response to hexose (GO:0009746)	2.87503732
67	startle response (GO:0001964)	2.85034391
68	respiratory chain complex IV assembly (GO:0008535)	2.84611042
69	response to lipoprotein particle (GO:0055094)	2.83335820
70	calcium ion import (GO:0070509)	2.82345930
71	cellular zinc ion homeostasis (GO:0006882)	2.81129887
72	hormone secretion (GO:0046879)	2.80235176
73	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	2.78241216
74	regulation of calcium ion-dependent exocytosis (GO:0017158)	2.77183951
75	regulation of energy homeostasis (GO:2000505)	2.76316437
76	xenobiotic catabolic process (GO:0042178)	2.76024495
77	peptide transport (GO:0015833)	2.75543016
78	protein K6-linked ubiquitination (GO:0085020)	2.74459813
79	inositol phosphate-mediated signaling (GO:0048016)	2.72478062
80	sequestering of metal ion (GO:0051238)	2.70954099
81	response to monosaccharide (GO:0034284)	2.70661786
82	nitric oxide biosynthetic process (GO:0006809)	2.69238172
83	cytochrome complex assembly (GO:0017004)	2.68871831
84	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	2.67676386
85	L-phenylalanine catabolic process (GO:0006559)	2.67676386
86	catecholamine transport (GO:0051937)	2.64123925
87	auditory receptor cell differentiation (GO:0042491)	2.63229376
88	hormone transport (GO:0009914)	2.63097043
89	positive regulation of glucose metabolic process (GO:0010907)	2.62888609
90	zinc ion transport (GO:0006829)	2.62663859
91	cellular response to hepatocyte growth factor stimulus (GO:0035729)	2.62123470
92	response to hepatocyte growth factor (GO:0035728)	2.62123470
93	intra-Golgi vesicle-mediated transport (GO:0006891)	2.60722825
94	negative regulation of insulin secretion (GO:0046676)	2.58967539
95	protein targeting to Golgi (GO:0000042)	2.58581611
96	positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:00357	2.58295797
97	kidney morphogenesis (GO:0060993)	2.57829574
98	zinc ion transmembrane transport (GO:0071577)	2.57326676
99	dendritic spine morphogenesis (GO:0060997)	2.56768175
100	regulation of gluconeogenesis (GO:0006111)	2.55927772

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	7.95883760
2	POU3F2_20337985_ChIP-ChIP_501MEL_Human	2.84007245
3	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	2.74481677
4	GBX2_23144817_ChIP-Seq_PC3_Human	2.37607025
5	ZFP57_27257070_Chip-Seq_ESCs_Mouse	2.24318822
6	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	2.00883538
7	GLI1_17442700_ChIP-ChIP_MESCs_Mouse	1.99768687
8	ZNF274_21170338_ChIP-Seq_K562_Hela	1.96947352
9	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.94418956
10	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.89475878
11	IGF1R_20145208_ChIP-Seq_DFB_Human	1.87054656
12	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.86481895
13	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.83062956
14	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.77275266
15	AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human	1.71494142
16	P300_19829295_ChIP-Seq_ESCs_Human	1.70409962
17	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.67764469
18	CEBPD_23245923_ChIP-Seq_MEFs_Mouse	1.66331165
19	SMAD4_21799915_ChIP-Seq_A2780_Human	1.66033722
20	HTT_18923047_ChIP-ChIP_STHdh_Human	1.65961515
21	PIAS1_25552417_ChIP-Seq_VCAP_Human	1.61771642
22	BMI1_23680149_ChIP-Seq_NPCS_Mouse	1.61051315
23	NANOG_18555785_Chip-Seq_ESCs_Mouse	1.60937020
24	FUS_26573619_Chip-Seq_HEK293_Human	1.56016753
25	SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.54845611
26	REST_21632747_ChIP-Seq_MESCs_Mouse	1.54184813
27	MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse	1.52473645
28	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.51962887
29	SMARCD1_25818293_ChIP-Seq_ESCs_Mouse	1.51066450
30	AR_25329375_ChIP-Seq_VCAP_Human	1.49544582
31	ER_23166858_ChIP-Seq_MCF-7_Human	1.47472107
32	TAF15_26573619_Chip-Seq_HEK293_Human	1.46077389
33	STAT3_23295773_ChIP-Seq_U87_Human	1.44770420
34	TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse	1.43340381
35	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.43120568
36	EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse	1.39697385
37	BCAT_22108803_ChIP-Seq_LS180_Human	1.38277956
38	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.37236970
39	TP53_22573176_ChIP-Seq_HFKS_Human	1.36373372
40	CBP_20019798_ChIP-Seq_JUKART_Human	1.35842490
41	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	1.35842490
42	CMYC_18555785_Chip-Seq_ESCs_Mouse	1.35289098
43	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.34746203
44	NR3C1_23031785_ChIP-Seq_PC12_Mouse	1.34347084
45	P53_22387025_ChIP-Seq_ESCs_Mouse	1.34201512
46	TCF4_23295773_ChIP-Seq_U87_Human	1.32450868
47	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.31352419
48	SMAD2/3_21741376_ChIP-Seq_EPCs_Human	1.31073615
49	OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse	1.29851464
50	SMAD3_21741376_ChIP-Seq_EPCs_Human	1.28438696
51	STAT3_18555785_Chip-Seq_ESCs_Mouse	1.26928871
52	CDX2_22108803_ChIP-Seq_LS180_Human	1.26569913
53	SUZ12_18555785_Chip-Seq_ESCs_Mouse	1.26457273
54	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	1.23632146
55	SOX2_18555785_Chip-Seq_ESCs_Mouse	1.23213938
56	REST_18959480_ChIP-ChIP_MESCs_Mouse	1.22743952
57	EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse	1.21159385
58	EWS_26573619_Chip-Seq_HEK293_Human	1.19110859
59	E2F1_18555785_Chip-Seq_ESCs_Mouse	1.18690741
60	CBX2_27304074_Chip-Seq_ESCs_Mouse	1.18420943
61	SOX2_19829295_ChIP-Seq_ESCs_Human	1.18119772
62	NANOG_19829295_ChIP-Seq_ESCs_Human	1.18119772
63	P300_18555785_Chip-Seq_ESCs_Mouse	1.17808724
64	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	1.17391489
65	TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse	1.16252197
66	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	1.16107427
67	CTCF_18555785_Chip-Seq_ESCs_Mouse	1.15744396
68	NR3C1_21868756_ChIP-Seq_MCF10A_Human	1.15012073
69	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.14442336
70	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.14442336
71	FLI1_21867929_ChIP-Seq_TH2_Mouse	1.13914268
72	ZFP322A_24550733_ChIP-Seq_MESCs_Mouse	1.13008074
73	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.12516864
74	CRX_20693478_ChIP-Seq_RETINA_Mouse	1.11691777
75	SUZ12_18692474_ChIP-Seq_MESCs_Mouse	1.11501498
76	ZNF217_24962896_ChIP-Seq_MCF-7_Human	1.11101191
77	FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human	1.10521702
78	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	1.10157783
79	NMYC_18555785_Chip-Seq_ESCs_Mouse	1.09556307
80	VDR_22108803_ChIP-Seq_LS180_Human	1.08479056
81	TOP2B_26459242_ChIP-Seq_MCF-7_Human	1.07650679
82	TCF4_22108803_ChIP-Seq_LS180_Human	1.04868036
83	RUNX2_22187159_ChIP-Seq_PCA_Human	1.04448116
84	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.03479516
85	FOXA1_21572438_ChIP-Seq_LNCaP_Human	1.03198210
86	SOX2_21211035_ChIP-Seq_LN229_Gbm	1.03138986
87	SMAD4_21741376_ChIP-Seq_EPCs_Human	1.02430159
88	OCT4_21477851_ChIP-Seq_ESCs_Mouse	1.02427110
89	PRDM14_20953172_ChIP-Seq_ESCs_Human	1.02387533
90	TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human	1.01889499
91	TBL1_22424771_ChIP-Seq_293T_Human	0.99583967
92	NOTCH1_21737748_ChIP-Seq_TLL_Human	0.99577899
93	FOXA1_25552417_ChIP-Seq_VCAP_Human	0.99310550
94	OCT4_18555785_Chip-Seq_ESCs_Mouse	0.99187536
95	AR_20517297_ChIP-Seq_VCAP_Human	0.98975447
96	PU1_27457419_Chip-Seq_LIVER_Mouse	0.98923736
97	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	0.98479926
98	SUZ12_20075857_ChIP-Seq_MESCs_Mouse	0.98274122
99	TAL1_26923725_Chip-Seq_HPCs_Mouse	0.97714551
100	ZFX_18555785_Chip-Seq_ESCs_Mouse	0.96680670

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003195_calcinosis	5.32546020
2	MP0003283_abnormal_digestive_organ	5.15690060
3	MP0003787_abnormal_imprinting	4.35157936
4	MP0002909_abnormal_adrenal_gland	3.89399949
5	MP0002837_dystrophic_cardiac_calcinosis	3.55635628
6	MP0003122_maternal_imprinting	3.30446359
7	MP0005379_endocrine/exocrine_gland_phen	3.30129529
8	MP0001944_abnormal_pancreas_morphology	3.01552759
9	MP0010234_abnormal_vibrissa_follicle	2.99050932
10	MP0002693_abnormal_pancreas_physiology	2.93495548
11	MP0009780_abnormal_chondrocyte_physiolo	2.89085869
12	MP0008877_abnormal_DNA_methylation	2.81680971
13	MP0003123_paternal_imprinting	2.75043934
14	MP0005645_abnormal_hypothalamus_physiol	2.71000341
15	MP0002163_abnormal_gland_morphology	2.57630461
16	MP0000013_abnormal_adipose_tissue	2.20268663
17	MP0005220_abnormal_exocrine_pancreas	2.12677384
18	MP0006072_abnormal_retinal_apoptosis	2.08211458
19	MP0003121_genomic_imprinting	2.03889821
20	MP0003172_abnormal_lysosome_physiology	1.91800809
21	MP0002876_abnormal_thyroid_physiology	1.91119035
22	MP0002078_abnormal_glucose_homeostasis	1.90945309
23	MP0002638_abnormal_pupillary_reflex	1.83925329
24	MP0009046_muscle_twitch	1.82478780
25	MP0002928_abnormal_bile_duct	1.80254049
26	MP0004270_analgesia	1.76576412
27	MP0005646_abnormal_pituitary_gland	1.73270059
28	MP0002139_abnormal_hepatobiliary_system	1.59733902
29	MP0000462_abnormal_digestive_system	1.49160075
30	MP0010329_abnormal_lipoprotein_level	1.45469104
31	MP0001756_abnormal_urination	1.43520523
32	MP0010386_abnormal_urinary_bladder	1.37924371
33	MP0008004_abnormal_stomach_pH	1.36123476
34	MP0004043_abnormal_pH_regulation	1.34604795
35	MP0001986_abnormal_taste_sensitivity	1.32994115
36	MP0000003_abnormal_adipose_tissue	1.31406215
37	MP0005332_abnormal_amino_acid	1.30840629
38	MP0004885_abnormal_endolymph	1.27692456
39	MP0005448_abnormal_energy_balance	1.27052089
40	MP0003953_abnormal_hormone_level	1.27001908
41	MP0001984_abnormal_olfaction	1.24904583
42	MP0005365_abnormal_bile_salt	1.16693336
43	MP0005075_abnormal_melanosome_morpholog	1.13501220
44	MP0002102_abnormal_ear_morphology	1.10212178
45	MP0005636_abnormal_mineral_homeostasis	1.09493103
46	MP0009745_abnormal_behavioral_response	1.09448890
47	MP0001765_abnormal_ion_homeostasis	1.09087395
48	MP0005551_abnormal_eye_electrophysiolog	1.08769558
49	MP0000516_abnormal_urinary_system	1.06191365
50	MP0005367_renal/urinary_system_phenotyp	1.06191365
51	MP0005253_abnormal_eye_physiology	1.06083676
52	MP0006036_abnormal_mitochondrial_physio	1.04285532
53	MP0002090_abnormal_vision	1.01303607
54	MP0002118_abnormal_lipid_homeostasis	1.00260585
55	MP0010678_abnormal_skin_adnexa	1.00174863
56	MP0002272_abnormal_nervous_system	0.99620378
57	MP0000427_abnormal_hair_cycle	0.98417911
58	MP0004019_abnormal_vitamin_homeostasis	0.97820854
59	MP0003633_abnormal_nervous_system	0.96924679
60	MP0002822_catalepsy	0.96551556
61	MP0009643_abnormal_urine_homeostasis	0.95270043
62	MP0005535_abnormal_body_temperature	0.94866537
63	MP0002277_abnormal_respiratory_mucosa	0.94553170
64	MP0002064_seizures	0.92624825
65	MP0001501_abnormal_sleep_pattern	0.86269858
66	MP0004510_myositis	0.86189993
67	MP0003868_abnormal_feces_composition	0.84849529
68	MP0005084_abnormal_gallbladder_morpholo	0.84491491
69	MP0002229_neurodegeneration	0.84424574
70	MP0000631_abnormal_neuroendocrine_gland	0.83431675
71	MP0003045_fibrosis	0.82180186
72	MP0002557_abnormal_social/conspecific_i	0.81483257
73	MP0003879_abnormal_hair_cell	0.80025206
74	MP0005386_behavior/neurological_phenoty	0.79689505
75	MP0004924_abnormal_behavior	0.79689505
76	MP0000639_abnormal_adrenal_gland	0.78532039
77	MP0002254_reproductive_system_inflammat	0.78218399
78	MP0002938_white_spotting	0.76604957
79	MP0003011_delayed_dark_adaptation	0.75987112
80	MP0002572_abnormal_emotion/affect_behav	0.75679418
81	MP0004142_abnormal_muscle_tone	0.74725795
82	MP0005389_reproductive_system_phenotype	0.73924149
83	MP0002734_abnormal_mechanical_nocicepti	0.72874263
84	MP0005174_abnormal_tail_pigmentation	0.69811357
85	MP0001905_abnormal_dopamine_level	0.69555483
86	MP0000470_abnormal_stomach_morphology	0.68022769
87	MP0001666_abnormal_nutrient_absorption	0.66387565
88	MP0005452_abnormal_adipose_tissue	0.66200559
89	MP0002069_abnormal_eating/drinking_beha	0.66136086
90	MP0001970_abnormal_pain_threshold	0.65744943
91	MP0000015_abnormal_ear_pigmentation	0.63419110
92	MP0004134_abnormal_chest_morphology	0.62064819
93	MP0003252_abnormal_bile_duct	0.61063832
94	MP0009642_abnormal_blood_homeostasis	0.60794274
95	MP0002168_other_aberrant_phenotype	0.60302723
96	MP0001919_abnormal_reproductive_system	0.59958309
97	MP0000569_abnormal_digit_pigmentation	0.59804236
98	MP0002160_abnormal_reproductive_system	0.59734825
99	MP0002166_altered_tumor_susceptibility	0.58904900
100	MP0001502_abnormal_circadian_rhythm	0.56449812

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hypoglycemic seizures (HP:0002173)	8.50560357
2	Hyperinsulinemic hypoglycemia (HP:0000825)	7.57119958
3	Hypoglycemic coma (HP:0001325)	7.14809684
4	Ketoacidosis (HP:0001993)	6.25505780
5	Symptomatic seizures (HP:0011145)	5.78027602
6	Hyperglycemia (HP:0003074)	5.53076097
7	Abnormality of endocrine pancreas physiology (HP:0012093)	5.46202483
8	Abnormality of the pancreatic islet cells (HP:0006476)	5.46202483
9	Elevated circulating parathyroid hormone (PTH) level (HP:0003165)	4.71117927
10	Insulin-resistant diabetes mellitus (HP:0000831)	4.45818899
11	Large for gestational age (HP:0001520)	4.28947463
12	Prominent metopic ridge (HP:0005487)	4.06349893
13	Ketosis (HP:0001946)	3.84471165
14	Late onset (HP:0003584)	3.84178963
15	Abnormality of the metopic suture (HP:0005556)	3.67357594
16	Hypothermia (HP:0002045)	3.62163504
17	EEG with generalized epileptiform discharges (HP:0011198)	3.58685405
18	Epileptiform EEG discharges (HP:0011182)	3.50923582
19	Hypomagnesemia (HP:0002917)	3.48699774
20	Hypsarrhythmia (HP:0002521)	3.44971395
21	Abnormal pancreas size (HP:0012094)	3.44299181
22	Pancreatic islet-cell hyperplasia (HP:0004510)	3.43125505
23	Increased circulating renin level (HP:0000848)	3.42412553
24	Enlarged penis (HP:0000040)	3.38141444
25	Abnormality of aromatic amino acid family metabolism (HP:0004338)	3.02964227
26	Type I diabetes mellitus (HP:0100651)	3.02043060
27	Hyperphosphatemia (HP:0002905)	2.95156171
28	Agitation (HP:0000713)	2.78476098
29	Abnormality of calcium-phosphate metabolism (HP:0100530)	2.77478836
30	Abnormality of magnesium homeostasis (HP:0004921)	2.69832250
31	Polydipsia (HP:0001959)	2.58687069
32	Abnormal drinking behavior (HP:0030082)	2.58687069
33	Methylmalonic acidemia (HP:0002912)	2.56940331
34	Hyperthyroidism (HP:0000836)	2.49920276
35	Hypoplasia of the fovea (HP:0007750)	2.45913303
36	Aplasia/Hypoplasia of the fovea (HP:0008060)	2.45913303
37	Insulin resistance (HP:0000855)	2.45488873
38	Abnormality of vitamin B metabolism (HP:0004340)	2.41942617
39	Hypokinesia (HP:0002375)	2.41525823
40	Muscular hypotonia of the trunk (HP:0008936)	2.40163221
41	Testicular neoplasm (HP:0010788)	2.38985078
42	Neoplasm of the adrenal cortex (HP:0100641)	2.35736177
43	Hematochezia (HP:0002573)	2.34854391
44	Conjunctival hamartoma (HP:0100780)	2.25469269
45	Downturned corners of mouth (HP:0002714)	2.23107601
46	Hemiparesis (HP:0001269)	2.08430424
47	Macroorchidism (HP:0000053)	2.07509632
48	Double outlet right ventricle (HP:0001719)	2.06291817
49	Congenital malformation of the right heart (HP:0011723)	2.06291817
50	Tongue fasciculations (HP:0001308)	2.05721632
51	Thyroiditis (HP:0100646)	2.04584995
52	Tachypnea (HP:0002789)	2.03790780
53	Hamartoma of the eye (HP:0010568)	2.03611591
54	Tetany (HP:0001281)	2.03193337
55	Exocrine pancreatic insufficiency (HP:0001738)	2.02708030
56	Abnormality of the fovea (HP:0000493)	2.02058622
57	Abnormality of vitamin metabolism (HP:0100508)	1.96614831
58	Hepatic necrosis (HP:0002605)	1.95270087
59	Abnormal albumin level (HP:0012116)	1.93641732
60	Hypoalbuminemia (HP:0003073)	1.93641732
61	Villous atrophy (HP:0011473)	1.93033516
62	Abnormality of small intestinal villus morphology (HP:0011472)	1.93033516
63	Menstrual irregularities (HP:0000858)	1.92512875
64	Abnormality of the renal cortex (HP:0011035)	1.89901760
65	Diminished movement (HP:0002374)	1.89405780
66	Methylmalonic aciduria (HP:0012120)	1.88995497
67	Medial flaring of the eyebrow (HP:0010747)	1.84664878
68	Renal cortical cysts (HP:0000803)	1.84643697
69	Neoplasm of the adrenal gland (HP:0100631)	1.82975257
70	Progressive neurologic deterioration (HP:0002344)	1.80283329
71	Polyuria (HP:0000103)	1.80116872
72	Postural tremor (HP:0002174)	1.79666507
73	Progressive macrocephaly (HP:0004481)	1.79017802
74	Abnormality of renin-angiotensin system (HP:0000847)	1.78484322
75	Intestinal atresia (HP:0011100)	1.75240800
76	Hyperventilation (HP:0002883)	1.72251348
77	Muscle fibrillation (HP:0010546)	1.69601844
78	Anxiety (HP:0000739)	1.68360379
79	Hyperparathyroidism (HP:0000843)	1.67737019
80	Abnormality of urine glucose concentration (HP:0011016)	1.67712007
81	Glycosuria (HP:0003076)	1.67712007
82	Sex reversal (HP:0012245)	1.67349897
83	Abnormal sex determination (HP:0012244)	1.67349897
84	Furrowed tongue (HP:0000221)	1.66300372
85	Stomatitis (HP:0010280)	1.62424020
86	Increased CSF protein (HP:0002922)	1.61914759
87	Intention tremor (HP:0002080)	1.61822877
88	Basal ganglia calcification (HP:0002135)	1.59619356
89	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.59315348
90	Dicarboxylic aciduria (HP:0003215)	1.59315348
91	Nephronophthisis (HP:0000090)	1.59130342
92	Vacuolated lymphocytes (HP:0001922)	1.56535570
93	Poor suck (HP:0002033)	1.55622370
94	Febrile seizures (HP:0002373)	1.55530841
95	Abnormality of the vitamin B12 metabolism (HP:0004341)	1.55398202
96	Septate vagina (HP:0001153)	1.53709002
97	Hyperphosphaturia (HP:0003109)	1.53453579
98	Abnormality of the basal ganglia (HP:0002134)	1.52946507
99	Abnormality of methionine metabolism (HP:0010901)	1.52720994
100	Pancreatic fibrosis (HP:0100732)	1.48869398

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	8.21235179
2	PASK	5.43139106
3	FGFR2	3.77312085
4	PINK1	2.76217564
5	DAPK2	2.42925511
6	FGFR3	2.21985301
7	MAP3K2	2.18043467
8	NTRK3	2.11376444
9	MAP4K2	2.08243936
10	PHKG2	1.99492199
11	PHKG1	1.99492199
12	CASK	1.93746676
13	GRK1	1.92729723
14	TRPM7	1.87247644
15	HIPK2	1.86942752
16	MST4	1.69036748
17	ADRBK2	1.47749669
18	NLK	1.44918267
19	MAP3K4	1.44094637
20	WNK3	1.39262251
21	AKT3	1.38668934
22	STK24	1.33916315
23	BMPR1B	1.33534529
24	PAK3	1.29085673
25	MAP2K6	1.28168551
26	STK38L	1.19991302
27	PNCK	1.16606656
28	PRKCG	1.11085716
29	STK3	1.10902406
30	CSNK1G1	1.10535199
31	FER	1.08919911
32	ACVR1B	1.05424325
33	EIF2AK3	1.03118278
34	TAOK1	1.02326829
35	INSRR	1.01480243
36	PRKAA2	1.00088646
37	TRIM28	0.99244915
38	PRKCE	0.94883976
39	EPHA3	0.92002138
40	TNIK	0.91778502
41	CAMK2D	0.89628825
42	SGK2	0.83331066
43	CSNK1G3	0.82262605
44	PRKAA1	0.81288763
45	CSNK1G2	0.79317012
46	STK11	0.78796888
47	PTK2B	0.78502831
48	IRAK1	0.78144889
49	MAP3K9	0.77803811
50	ERBB3	0.77795120
51	MAP3K1	0.74339820
52	OXSR1	0.72023779
53	CAMK1G	0.71655219
54	YES1	0.69695088
55	WNK4	0.66555162
56	PLK2	0.64234233
57	STK39	0.60218396
58	CAMKK2	0.58435537
59	SGK223	0.55530211
60	SGK494	0.55530211
61	NUAK1	0.55262997
62	CDK3	0.53527277
63	TAOK3	0.53152897
64	UHMK1	0.52589501
65	LIMK1	0.52078311
66	MAP2K7	0.49441532
67	MAPK13	0.49274147
68	SGK3	0.48595682
69	EIF2AK1	0.46816241
70	MAPKAPK3	0.46498192
71	IRAK2	0.43427429
72	MAP3K7	0.41579019
73	PRKCH	0.41291690
74	SGK1	0.41146304
75	MAP3K12	0.40294661
76	CSNK1A1	0.39428966
77	STK4	0.38571423
78	PRKCZ	0.38140363
79	CHUK	0.37347703
80	TEC	0.37326442
81	PRKACA	0.36727886
82	DAPK1	0.36580689
83	IKBKB	0.35395991
84	PRKG1	0.33712302
85	PLK3	0.33087296
86	IRAK4	0.32955988
87	IKBKE	0.32806003
88	CSNK1A1L	0.32770068
89	PRKCA	0.30583391
90	ADRBK1	0.29597153
91	MKNK2	0.29560958
92	CAMK2A	0.28824499
93	PRKCI	0.27842288
94	CSNK1D	0.27726934
95	CAMK1	0.26073471
96	MAP2K4	0.25901795
97	PRKACB	0.25594831
98	JAK1	0.24429107
99	RPS6KB1	0.23786324
100	PRKD3	0.23317804

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Maturity onset diabetes of the young_Homo sapiens_hsa04950	9.08059653
2	Insulin secretion_Homo sapiens_hsa04911	3.31695586
3	Butanoate metabolism_Homo sapiens_hsa00650	2.97004122
4	Protein export_Homo sapiens_hsa03060	2.87242041
5	Type II diabetes mellitus_Homo sapiens_hsa04930	2.66676801
6	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.42224161
7	Type I diabetes mellitus_Homo sapiens_hsa04940	2.14100578
8	Collecting duct acid secretion_Homo sapiens_hsa04966	1.97559679
9	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.89474201
10	Regulation of autophagy_Homo sapiens_hsa04140	1.84295395
11	Sulfur metabolism_Homo sapiens_hsa00920	1.83002767
12	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.79387180
13	Fatty acid elongation_Homo sapiens_hsa00062	1.57045791
14	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.52238940
15	Vitamin B6 metabolism_Homo sapiens_hsa00750	1.38173115
16	Folate biosynthesis_Homo sapiens_hsa00790	1.35091844
17	Tryptophan metabolism_Homo sapiens_hsa00380	1.30426666
18	Circadian rhythm_Homo sapiens_hsa04710	1.28332298
19	Synaptic vesicle cycle_Homo sapiens_hsa04721	1.26068779
20	Selenocompound metabolism_Homo sapiens_hsa00450	1.23020471
21	Vibrio cholerae infection_Homo sapiens_hsa05110	1.18064099
22	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.17984422
23	Peroxisome_Homo sapiens_hsa04146	1.16381467
24	Oxidative phosphorylation_Homo sapiens_hsa00190	1.15037143
25	Fatty acid metabolism_Homo sapiens_hsa01212	1.12145650
26	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	1.12104021
27	Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa04960	1.08412956
28	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	1.07725595
29	Renin secretion_Homo sapiens_hsa04924	1.06555015
30	Sphingolipid metabolism_Homo sapiens_hsa00600	1.03631214
31	Ether lipid metabolism_Homo sapiens_hsa00565	1.02625990
32	Carbohydrate digestion and absorption_Homo sapiens_hsa04973	1.00662938
33	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.00375048
34	ABC transporters_Homo sapiens_hsa02010	1.00029792
35	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.99410869
36	mTOR signaling pathway_Homo sapiens_hsa04150	0.98323282
37	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.98014735
38	Amphetamine addiction_Homo sapiens_hsa05031	0.92235893
39	Butirosin and neomycin biosynthesis_Homo sapiens_hsa00524	0.91267043
40	Phototransduction_Homo sapiens_hsa04744	0.87811842
41	Pancreatic secretion_Homo sapiens_hsa04972	0.87678986
42	Fatty acid degradation_Homo sapiens_hsa00071	0.85679046
43	beta-Alanine metabolism_Homo sapiens_hsa00410	0.82998877
44	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.82421472
45	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.79802432
46	Circadian entrainment_Homo sapiens_hsa04713	0.75897997
47	Glucagon signaling pathway_Homo sapiens_hsa04922	0.74183036
48	Mineral absorption_Homo sapiens_hsa04978	0.73511222
49	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.72415988
50	Linoleic acid metabolism_Homo sapiens_hsa00591	0.70926363
51	Insulin resistance_Homo sapiens_hsa04931	0.70610448
52	Propanoate metabolism_Homo sapiens_hsa00640	0.67502060
53	Dopaminergic synapse_Homo sapiens_hsa04728	0.65234746
54	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.65024114
55	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.64785777
56	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	0.62835005
57	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	0.62076663
58	Serotonergic synapse_Homo sapiens_hsa04726	0.60581463
59	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.59895728
60	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.59621219
61	Glycosaminoglycan degradation_Homo sapiens_hsa00531	0.57012300
62	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.56832411
63	Thyroid hormone synthesis_Homo sapiens_hsa04918	0.55512390
64	Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141	0.55466974
65	Long-term depression_Homo sapiens_hsa04730	0.54662559
66	Lysosome_Homo sapiens_hsa04142	0.52840271
67	Other glycan degradation_Homo sapiens_hsa00511	0.51418643
68	Salivary secretion_Homo sapiens_hsa04970	0.50969937
69	GABAergic synapse_Homo sapiens_hsa04727	0.50881901
70	AMPK signaling pathway_Homo sapiens_hsa04152	0.50611091
71	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.48510353
72	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.48235683
73	Glutamatergic synapse_Homo sapiens_hsa04724	0.46080666
74	Cocaine addiction_Homo sapiens_hsa05030	0.44732369
75	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.44202216
76	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.43793531
77	Nicotine addiction_Homo sapiens_hsa05033	0.41493387
78	Bile secretion_Homo sapiens_hsa04976	0.41067613
79	Phosphatidylinositol signaling system_Homo sapiens_hsa04070	0.40681182
80	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.40379161
81	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.40069377
82	Steroid biosynthesis_Homo sapiens_hsa00100	0.39957312
83	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.39790545
84	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.39669476
85	Aldosterone synthesis and secretion_Homo sapiens_hsa04925	0.39414938
86	Metabolic pathways_Homo sapiens_hsa01100	0.39261771
87	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	0.39176376
88	cAMP signaling pathway_Homo sapiens_hsa04024	0.36534998
89	Taste transduction_Homo sapiens_hsa04742	0.36185105
90	Retinol metabolism_Homo sapiens_hsa00830	0.35087321
91	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.34735364
92	Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa05120	0.34722602
93	Prolactin signaling pathway_Homo sapiens_hsa04917	0.33939782
94	Caffeine metabolism_Homo sapiens_hsa00232	0.30643401
95	Morphine addiction_Homo sapiens_hsa05032	0.28359888
96	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.28288318
97	Retrograde endocannabinoid signaling_Homo sapiens_hsa04723	0.27742761
98	Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961	0.27504763
99	Cardiac muscle contraction_Homo sapiens_hsa04260	0.27469599
100	Alzheimers disease_Homo sapiens_hsa05010	0.26850837

ERO1B

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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