ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	DNA deamination (GO:0045006)	4.87065528
2	lactate metabolic process (GO:0006089)	4.66160639
3	respiratory chain complex IV assembly (GO:0008535)	4.29611135
4	regulation of hexokinase activity (GO:1903299)	4.19424037
5	regulation of glucokinase activity (GO:0033131)	4.19424037
6	water-soluble vitamin biosynthetic process (GO:0042364)	4.00884631
7	proteasome assembly (GO:0043248)	3.99803433
8	protein complex biogenesis (GO:0070271)	3.98714413
9	cytochrome complex assembly (GO:0017004)	3.78427254
10	mitochondrial respiratory chain complex assembly (GO:0033108)	3.73103572
11	regulation of cellular amino acid metabolic process (GO:0006521)	3.53729013
12	response to pheromone (GO:0019236)	3.43500123
13	ATP synthesis coupled proton transport (GO:0015986)	3.39596997
14	energy coupled proton transport, down electrochemical gradient (GO:0015985)	3.39596997
15	fucose catabolic process (GO:0019317)	3.38508665
16	L-fucose metabolic process (GO:0042354)	3.38508665
17	L-fucose catabolic process (GO:0042355)	3.38508665
18	cellular ketone body metabolic process (GO:0046950)	3.37786315
19	mitochondrial ATP synthesis coupled proton transport (GO:0042776)	3.37684970
20	pyrimidine-containing compound transmembrane transport (GO:0072531)	3.33361732
21	mitochondrial respiratory chain complex I assembly (GO:0032981)	3.33309330
22	NADH dehydrogenase complex assembly (GO:0010257)	3.33309330
23	mitochondrial respiratory chain complex I biogenesis (GO:0097031)	3.33309330
24	cullin deneddylation (GO:0010388)	3.30446513
25	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	3.26976095
26	establishment of protein localization to mitochondrial membrane (GO:0090151)	3.24552971
27	ketone body metabolic process (GO:1902224)	3.22762680
28	nucleoside transmembrane transport (GO:1901642)	3.21610897
29	mannosylation (GO:0097502)	3.17313038
30	rRNA modification (GO:0000154)	3.14772894
31	positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)	3.11408686
32	negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)	3.10876995
33	peptidyl-histidine modification (GO:0018202)	3.10725064
34	positive regulation of glycolytic process (GO:0045821)	3.06789058
35	keratinocyte development (GO:0003334)	3.06588355
36	protein deneddylation (GO:0000338)	2.98948568
37	rRNA methylation (GO:0031167)	2.98155475
38	positive regulation of respiratory burst (GO:0060267)	2.97427207
39	platelet dense granule organization (GO:0060155)	2.97041441
40	electron transport chain (GO:0022900)	2.95286192
41	RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)	2.95211425
42	tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	2.95211425
43	inositol phosphate dephosphorylation (GO:0046855)	2.94899495
44	phosphorylated carbohydrate dephosphorylation (GO:0046838)	2.94899495
45	respiratory electron transport chain (GO:0022904)	2.92902339
46	pseudouridine synthesis (GO:0001522)	2.92879559
47	regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	2.92735556
48	negative regulation of acute inflammatory response (GO:0002674)	2.91606006
49	purine nucleobase biosynthetic process (GO:0009113)	2.88208559
50	inositol phosphate catabolic process (GO:0071545)	2.88001957
51	nucleobase biosynthetic process (GO:0046112)	2.87914755
52	protein-cofactor linkage (GO:0018065)	2.85626492
53	pteridine-containing compound biosynthetic process (GO:0042559)	2.84064905
54	DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:00	2.82939643
55	signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)	2.81246777
56	signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)	2.81246777
57	signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)	2.81246777
58	cytidine deamination (GO:0009972)	2.80586919
59	cytidine metabolic process (GO:0046087)	2.80586919
60	cytidine catabolic process (GO:0006216)	2.80586919
61	ubiquinone biosynthetic process (GO:0006744)	2.79131036
62	adenosine metabolic process (GO:0046085)	2.78778216
63	negative regulation of ubiquitin-protein transferase activity (GO:0051444)	2.78123339
64	negative regulation of ligase activity (GO:0051352)	2.78123339
65	viral mRNA export from host cell nucleus (GO:0046784)	2.76887787
66	deoxyribonucleoside triphosphate metabolic process (GO:0009200)	2.76403339
67	preassembly of GPI anchor in ER membrane (GO:0016254)	2.75977913
68	intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)	2.73668892
69	signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)	2.73668892
70	signal peptide processing (GO:0006465)	2.70778484
71	positive regulation of ubiquitin-protein transferase activity (GO:0051443)	2.70576734
72	negative regulation of telomere maintenance (GO:0032205)	2.70110191
73	L-methionine biosynthetic process from methylthioadenosine (GO:0019509)	2.69720623
74	regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045091	2.69295891
75	purine-containing compound salvage (GO:0043101)	2.68493579
76	phasic smooth muscle contraction (GO:0014821)	2.68269431
77	purine deoxyribonucleoside triphosphate metabolic process (GO:0009215)	2.68099825
78	ubiquinone metabolic process (GO:0006743)	2.66992679
79	AMP metabolic process (GO:0046033)	2.66752122
80	positive regulation of prostaglandin secretion (GO:0032308)	2.66206229
81	purine nucleoside triphosphate biosynthetic process (GO:0009145)	2.65713512
82	intracellular protein transmembrane import (GO:0044743)	2.65216731
83	inner mitochondrial membrane organization (GO:0007007)	2.63956763
84	positive regulation of ligase activity (GO:0051351)	2.62853929
85	nucleoside diphosphate catabolic process (GO:0009134)	2.62600057
86	signal transduction involved in DNA damage checkpoint (GO:0072422)	2.61913111
87	signal transduction involved in DNA integrity checkpoint (GO:0072401)	2.61913111
88	L-alpha-amino acid transmembrane transport (GO:1902475)	2.60326741
89	folic acid-containing compound biosynthetic process (GO:0009396)	2.59709772
90	signal transduction involved in cell cycle checkpoint (GO:0072395)	2.58579199
91	polyol catabolic process (GO:0046174)	2.57387194
92	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0	2.56050084
93	aldehyde catabolic process (GO:0046185)	2.55190030
94	branched-chain amino acid catabolic process (GO:0009083)	2.53305974
95	tRNA processing (GO:0008033)	2.53109543
96	regulation of type B pancreatic cell apoptotic process (GO:2000674)	2.52976154
97	endocrine pancreas development (GO:0031018)	2.51900405
98	tRNA metabolic process (GO:0006399)	2.50916846
99	2-deoxyribonucleotide biosynthetic process (GO:0009265)	2.50873101
100	deoxyribose phosphate biosynthetic process (GO:0046385)	2.50873101

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	4.46457097
2	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	4.34503747
3	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	3.72999755
4	GABP_17652178_ChIP-ChIP_JURKAT_Human	3.71199592
5	EST1_17652178_ChIP-ChIP_JURKAT_Human	3.28307372
6	ZNF274_21170338_ChIP-Seq_K562_Hela	3.22600549
7	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	3.20653311
8	VDR_22108803_ChIP-Seq_LS180_Human	3.00962529
9	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	2.90689225
10	HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human	2.85340261
11	VDR_23849224_ChIP-Seq_CD4+_Human	2.58873496
12	ETS1_20019798_ChIP-Seq_JURKAT_Human	2.48649018
13	FLI1_27457419_Chip-Seq_LIVER_Mouse	2.30480461
14	SRF_21415370_ChIP-Seq_HL-1_Mouse	2.21716313
15	ELK1_19687146_ChIP-ChIP_HELA_Human	2.03567718
16	NOTCH1_21737748_ChIP-Seq_TLL_Human	1.98236889
17	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	1.94986736
18	FOXP3_21729870_ChIP-Seq_TREG_Human	1.92180296
19	ELF1_17652178_ChIP-ChIP_JURKAT_Human	1.89650197
20	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.89568838
21	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	1.88307634
22	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.83262249
23	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.79128856
24	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	1.71795031
25	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.70351435
26	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.68544416
27	MYC_18940864_ChIP-ChIP_HL60_Human	1.64104636
28	MYCN_21190229_ChIP-Seq_SHEP-21N_Human	1.61378709
29	TP53_22573176_ChIP-Seq_HFKS_Human	1.58134537
30	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.57150289
31	HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse	1.56292629
32	PADI4_21655091_ChIP-ChIP_MCF-7_Human	1.52406418
33	E2F7_22180533_ChIP-Seq_HELA_Human	1.51222980
34	IGF1R_20145208_ChIP-Seq_DFB_Human	1.50051245
35	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.47123406
36	IRF1_21803131_ChIP-Seq_MONOCYTES_Human	1.46285137
37	P300_19829295_ChIP-Seq_ESCs_Human	1.40188658
38	CTBP2_25329375_ChIP-Seq_LNCAP_Human	1.39924417
39	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.37448993
40	EWS_26573619_Chip-Seq_HEK293_Human	1.36281718
41	FUS_26573619_Chip-Seq_HEK293_Human	1.35861265
42	CTBP1_25329375_ChIP-Seq_LNCAP_Human	1.35717012
43	NANOG_19829295_ChIP-Seq_ESCs_Human	1.33792367
44	SOX2_19829295_ChIP-Seq_ESCs_Human	1.33792367
45	ZFP57_27257070_Chip-Seq_ESCs_Mouse	1.33452623
46	FOXA1_27270436_Chip-Seq_PROSTATE_Human	1.33364802
47	FOXA1_25329375_ChIP-Seq_VCAP_Human	1.33364802
48	NFE2_27457419_Chip-Seq_LIVER_Mouse	1.33158683
49	E2F4_17652178_ChIP-ChIP_JURKAT_Human	1.31936325
50	GABP_19822575_ChIP-Seq_HepG2_Human	1.31500825
51	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.31333770
52	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	1.28659685
53	SALL1_21062744_ChIP-ChIP_HESCs_Human	1.27961042
54	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.27881459
55	AR_20517297_ChIP-Seq_VCAP_Human	1.27628589
56	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	1.24516848
57	EGR1_23403033_ChIP-Seq_LIVER_Mouse	1.23427302
58	SUZ12_27294783_Chip-Seq_NPCs_Mouse	1.19026313
59	DCP1A_22483619_ChIP-Seq_HELA_Human	1.17580536
60	YY1_21170310_ChIP-Seq_MESCs_Mouse	1.16231402
61	MYC_18555785_ChIP-Seq_MESCs_Mouse	1.16199695
62	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.15878622
63	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.15808507
64	ER_23166858_ChIP-Seq_MCF-7_Human	1.14414524
65	TAF15_26573619_Chip-Seq_HEK293_Human	1.13113326
66	RBPJ_21746931_ChIP-Seq_IB4_Human	1.10933006
67	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	1.06924613
68	TTF2_22483619_ChIP-Seq_HELA_Human	1.06397431
69	BCAT_22108803_ChIP-Seq_LS180_Human	1.06321823
70	PHF8_20622853_ChIP-Seq_HELA_Human	1.03795373
71	GATA3_26560356_Chip-Seq_TH2_Human	1.03743663
72	AUTS2_25519132_ChIP-Seq_293T-REX_Human	1.03454932
73	MYC_18358816_ChIP-ChIP_MESCs_Mouse	1.02825523
74	NCOR_22424771_ChIP-Seq_293T_Human	1.02763922
75	GBX2_23144817_ChIP-Seq_PC3_Human	1.02731273
76	ETV2_25802403_ChIP-Seq_MESCs_Mouse	1.01024450
77	MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human	1.00296507
78	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.00224368
79	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.99456474
80	MYC_19829295_ChIP-Seq_ESCs_Human	0.99252644
81	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	0.98235764
82	NR4A2_19515692_ChIP-ChIP_MN9D_Mouse	0.98107413
83	THAP11_20581084_ChIP-Seq_MESCs_Mouse	0.98088458
84	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.97932260
85	IRF4_20064451_ChIP-Seq_CD4+T_Mouse	0.97399112
86	CBP_20019798_ChIP-Seq_JUKART_Human	0.97399112
87	ETV1_20927104_ChIP-Seq_GIST48_Human	0.97273173
88	STAT3_18555785_Chip-Seq_ESCs_Mouse	0.97272890
89	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.96535162
90	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.96055338
91	UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.95718803
92	GATA6_21074721_ChIP-Seq_CACO-2_Human	0.95664514
93	PCGF4_22325352_ChIP-Seq_293T-Rex_Human	0.94761020
94	MYC_19030024_ChIP-ChIP_MESCs_Mouse	0.94392817
95	E2F1_18555785_ChIP-Seq_MESCs_Mouse	0.94031343
96	P300_18555785_Chip-Seq_ESCs_Mouse	0.93661332
97	CDX2_22108803_ChIP-Seq_LS180_Human	0.93518344
98	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	0.93354031
99	GATA6_21074721_ChIP-Seq_CACO-2_Mouse	0.93296612
100	HTT_18923047_ChIP-ChIP_STHdh_Human	0.90703177

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003806_abnormal_nucleotide_metabolis	3.88764684
2	MP0003195_calcinosis	3.66394507
3	MP0002277_abnormal_respiratory_mucosa	3.65323157
4	MP0002102_abnormal_ear_morphology	3.17010263
5	MP0002638_abnormal_pupillary_reflex	2.93188917
6	MP0005075_abnormal_melanosome_morpholog	2.88357615
7	MP0000372_irregular_coat_pigmentation	2.62282045
8	MP0008877_abnormal_DNA_methylation	2.60040362
9	MP0002837_dystrophic_cardiac_calcinosis	2.30981215
10	MP0002163_abnormal_gland_morphology	2.30061576
11	MP0005645_abnormal_hypothalamus_physiol	2.28080551
12	MP0005379_endocrine/exocrine_gland_phen	2.20282247
13	MP0000569_abnormal_digit_pigmentation	2.12122539
14	MP0004043_abnormal_pH_regulation	2.11042493
15	MP0002938_white_spotting	2.09139265
16	MP0004147_increased_porphyrin_level	1.96828834
17	MP0008875_abnormal_xenobiotic_pharmacok	1.92304431
18	MP0003787_abnormal_imprinting	1.85186368
19	MP0003646_muscle_fatigue	1.82745190
20	MP0008872_abnormal_physiological_respon	1.82437282
21	MP0000647_abnormal_sebaceous_gland	1.80879401
22	MP0003283_abnormal_digestive_organ	1.77537823
23	MP0002822_catalepsy	1.77129675
24	MP0006072_abnormal_retinal_apoptosis	1.73774680
25	MP0002909_abnormal_adrenal_gland	1.70716011
26	MP0001764_abnormal_homeostasis	1.69718904
27	MP0005253_abnormal_eye_physiology	1.65925330
28	MP0005646_abnormal_pituitary_gland	1.64434251
29	MP0002693_abnormal_pancreas_physiology	1.62199526
30	MP0003011_delayed_dark_adaptation	1.61157493
31	MP0005551_abnormal_eye_electrophysiolog	1.60689655
32	MP0002254_reproductive_system_inflammat	1.50581885
33	MP0006036_abnormal_mitochondrial_physio	1.46942969
34	MP0003718_maternal_effect	1.44779162
35	MP0002138_abnormal_hepatobiliary_system	1.44421433
36	MP0002095_abnormal_skin_pigmentation	1.41422836
37	MP0001986_abnormal_taste_sensitivity	1.39454160
38	MP0001984_abnormal_olfaction	1.34214356
39	MP0005636_abnormal_mineral_homeostasis	1.30842887
40	MP0001944_abnormal_pancreas_morphology	1.30219073
41	MP0002234_abnormal_pharynx_morphology	1.28832681
42	MP0003786_premature_aging	1.19514538
43	MP0002876_abnormal_thyroid_physiology	1.19088320
44	MP0005332_abnormal_amino_acid	1.18527452
45	MP0003693_abnormal_embryo_hatching	1.17193299
46	MP0009046_muscle_twitch	1.17059814
47	MP0001873_stomach_inflammation	1.16895762
48	MP0008058_abnormal_DNA_repair	1.15702514
49	MP0005410_abnormal_fertilization	1.15496512
50	MP0004142_abnormal_muscle_tone	1.14673980
51	MP0002751_abnormal_autonomic_nervous	1.12392078
52	MP0003186_abnormal_redox_activity	1.11788963
53	MP0005671_abnormal_response_to	1.10727484
54	MP0005360_urolithiasis	1.08909430
55	MP0001905_abnormal_dopamine_level	1.08288538
56	MP0003122_maternal_imprinting	1.06841739
57	MP0006292_abnormal_olfactory_placode	1.06837071
58	MP0009785_altered_susceptibility_to	1.06034537
59	MP0005389_reproductive_system_phenotype	1.06020024
60	MP0002160_abnormal_reproductive_system	1.04799530
61	MP0006035_abnormal_mitochondrial_morpho	1.03895218
62	MP0004885_abnormal_endolymph	1.02824479
63	MP0001501_abnormal_sleep_pattern	1.01593192
64	MP0004145_abnormal_muscle_electrophysio	0.99544281
65	MP0001661_extended_life_span	0.99521210
66	MP0005408_hypopigmentation	0.99087025
67	MP0008775_abnormal_heart_ventricle	0.93376118
68	MP0002557_abnormal_social/conspecific_i	0.89557109
69	MP0009643_abnormal_urine_homeostasis	0.88707013
70	MP0001835_abnormal_antigen_presentation	0.87782290
71	MP0001756_abnormal_urination	0.87026267
72	MP0004133_heterotaxia	0.86190491
73	MP0002148_abnormal_hypersensitivity_rea	0.85410521
74	MP0009333_abnormal_splenocyte_physiolog	0.85127350
75	MP0009745_abnormal_behavioral_response	0.84769226
76	MP0010094_abnormal_chromosome_stability	0.84655959
77	MP0002006_tumorigenesis	0.84527357
78	MP0003878_abnormal_ear_physiology	0.82548118
79	MP0005377_hearing/vestibular/ear_phenot	0.82548118
80	MP0002229_neurodegeneration	0.82360083
81	MP0001968_abnormal_touch/_nociception	0.78955783
82	MP0010329_abnormal_lipoprotein_level	0.77804381
83	MP0006082_CNS_inflammation	0.77636577
84	MP0002078_abnormal_glucose_homeostasis	0.77473568
85	MP0000427_abnormal_hair_cycle	0.76569280
86	MP0005220_abnormal_exocrine_pancreas	0.75559501
87	MP0001765_abnormal_ion_homeostasis	0.73973662
88	MP0005084_abnormal_gallbladder_morpholo	0.73243633
89	MP0001929_abnormal_gametogenesis	0.73106083
90	MP0002272_abnormal_nervous_system	0.72056534
91	MP0001790_abnormal_immune_system	0.70915153
92	MP0005387_immune_system_phenotype	0.70915153
93	MP0006276_abnormal_autonomic_nervous	0.70865772
94	MP0010386_abnormal_urinary_bladder	0.68716803
95	MP0003866_abnormal_defecation	0.68642249
96	MP0003943_abnormal_hepatobiliary_system	0.68099515
97	MP0001346_abnormal_lacrimal_gland	0.66924898
98	MP0001502_abnormal_circadian_rhythm	0.66721757
99	MP0008995_early_reproductive_senescence	0.65221430
100	MP0005167_abnormal_blood-brain_barrier	0.63397762

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Hypoglycemic coma (HP:0001325)	3.78382410
2	Acute necrotizing encephalopathy (HP:0006965)	3.69574250
3	Acute encephalopathy (HP:0006846)	3.58467156
4	Hepatic necrosis (HP:0002605)	3.52721158
5	Progressive macrocephaly (HP:0004481)	3.46296621
6	Mitochondrial inheritance (HP:0001427)	3.40490644
7	Ketoacidosis (HP:0001993)	3.36887227
8	Hypothermia (HP:0002045)	3.36843436
9	Increased CSF lactate (HP:0002490)	3.33549508
10	Pancreatic cysts (HP:0001737)	3.29636614
11	Molar tooth sign on MRI (HP:0002419)	3.24931904
12	Abnormality of midbrain morphology (HP:0002418)	3.24931904
13	Hypomagnesemia (HP:0002917)	3.24114526
14	Abnormal mitochondria in muscle tissue (HP:0008316)	3.19776692
15	Hypoglycemic seizures (HP:0002173)	3.10319541
16	Increased hepatocellular lipid droplets (HP:0006565)	3.06641255
17	Anhidrosis (HP:0000970)	3.01549598
18	Abnormality of the pons (HP:0007361)	2.99408588
19	Hepatocellular necrosis (HP:0001404)	2.97299890
20	Hyperinsulinemic hypoglycemia (HP:0000825)	2.89829047
21	Renal cortical cysts (HP:0000803)	2.88402098
22	Lipid accumulation in hepatocytes (HP:0006561)	2.87082595
23	Pancreatic fibrosis (HP:0100732)	2.81520197
24	Hypoplasia of the pons (HP:0012110)	2.81284967
25	Abnormality of the renal cortex (HP:0011035)	2.75265697
26	Congenital stationary night blindness (HP:0007642)	2.74979425
27	Tongue fasciculations (HP:0001308)	2.68493804
28	True hermaphroditism (HP:0010459)	2.64796962
29	Abnormality of magnesium homeostasis (HP:0004921)	2.63605586
30	Attenuation of retinal blood vessels (HP:0007843)	2.57662749
31	Methylmalonic aciduria (HP:0012120)	2.52926633
32	Nephronophthisis (HP:0000090)	2.50342084
33	Methylmalonic acidemia (HP:0002912)	2.49902724
34	Abnormality of aspartate family amino acid metabolism (HP:0010899)	2.48700035
35	Abnormality of methionine metabolism (HP:0010901)	2.48393537
36	Cerebral edema (HP:0002181)	2.46233779
37	Ketosis (HP:0001946)	2.45462797
38	Increased serum lactate (HP:0002151)	2.40825106
39	Abnormality of the pancreatic islet cells (HP:0006476)	2.38757369
40	Abnormality of endocrine pancreas physiology (HP:0012093)	2.38757369
41	Symptomatic seizures (HP:0011145)	2.34926977
42	Renal Fanconi syndrome (HP:0001994)	2.32649916
43	Optic disc pallor (HP:0000543)	2.32104552
44	Generalized aminoaciduria (HP:0002909)	2.31998426
45	Large for gestational age (HP:0001520)	2.30798382
46	3-Methylglutaconic aciduria (HP:0003535)	2.30365662
47	Hyperglycemia (HP:0003074)	2.30043122
48	Abnormal rod and cone electroretinograms (HP:0008323)	2.29565676
49	Lactic acidosis (HP:0003128)	2.26574701
50	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.20221777
51	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.20221777
52	Decreased electroretinogram (ERG) amplitude (HP:0000654)	2.18402107
53	Respiratory failure (HP:0002878)	2.17530775
54	Stomatitis (HP:0010280)	2.16824183
55	Lethargy (HP:0001254)	2.16244856
56	Constricted visual fields (HP:0001133)	2.13354641
57	Type I transferrin isoform profile (HP:0003642)	2.13271394
58	Muscle fibrillation (HP:0010546)	2.11638136
59	Neoplasm of the adrenal gland (HP:0100631)	2.06435838
60	Neoplasm of the adrenal cortex (HP:0100641)	2.04932020
61	Medial flaring of the eyebrow (HP:0010747)	2.03619467
62	Abnormality of urine glucose concentration (HP:0011016)	2.01479802
63	Glycosuria (HP:0003076)	2.01479802
64	Abolished electroretinogram (ERG) (HP:0000550)	2.01179477
65	Dicarboxylic aciduria (HP:0003215)	2.01153370
66	Abnormality of dicarboxylic acid metabolism (HP:0010995)	2.01153370
67	Tetany (HP:0001281)	1.98986129
68	Cerebellar dysplasia (HP:0007033)	1.97704654
69	Abnormality of the renal medulla (HP:0100957)	1.97151152
70	Unilateral renal agenesis (HP:0000122)	1.96201967
71	Furrowed tongue (HP:0000221)	1.94782056
72	Tubular atrophy (HP:0000092)	1.94471360
73	Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)	1.92793329
74	Thyroiditis (HP:0100646)	1.92322570
75	Polydipsia (HP:0001959)	1.92064278
76	Abnormal drinking behavior (HP:0030082)	1.92064278
77	Abnormal isoelectric focusing of serum transferrin (HP:0003160)	1.90336840
78	Abnormal protein N-linked glycosylation (HP:0012347)	1.90336840
79	Abnormal protein glycosylation (HP:0012346)	1.90336840
80	Abnormal glycosylation (HP:0012345)	1.90336840
81	Microvesicular hepatic steatosis (HP:0001414)	1.90207398
82	Increased intramyocellular lipid droplets (HP:0012240)	1.89665374
83	Aplasia/hypoplasia of the uterus (HP:0008684)	1.88469885
84	Absent rod-and cone-mediated responses on ERG (HP:0007688)	1.88372465
85	Abnormality of the labia minora (HP:0012880)	1.87298740
86	Type II lissencephaly (HP:0007260)	1.86555512
87	Parakeratosis (HP:0001036)	1.85653694
88	Decreased central vision (HP:0007663)	1.84440626
89	Chronic hepatic failure (HP:0100626)	1.84100431
90	Acute hepatic failure (HP:0006554)	1.82520665
91	Cystic liver disease (HP:0006706)	1.80507648
92	IgG deficiency (HP:0004315)	1.79724467
93	Tachypnea (HP:0002789)	1.78045507
94	Exercise intolerance (HP:0003546)	1.77205015
95	Muscle abnormality related to mitochondrial dysfunction (HP:0003800)	1.77189798
96	Intestinal atresia (HP:0011100)	1.76524415
97	Severe muscular hypotonia (HP:0006829)	1.75824124
98	Pancreatic islet-cell hyperplasia (HP:0004510)	1.74187918
99	Type I diabetes mellitus (HP:0100651)	1.73500316
100	Abnormality of vitamin B metabolism (HP:0004340)	1.73477549

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	FRK	4.89284604
2	MST4	3.55853435
3	ZAK	3.42491634
4	EIF2AK3	2.95352318
5	MAP4K2	2.89738100
6	NUAK1	2.50471610
7	PASK	2.42071537
8	TSSK6	2.35201386
9	ADRBK2	2.24489937
10	GRK1	2.19109856
11	VRK2	2.17001189
12	TLK1	1.93884039
13	PLK3	1.85749030
14	BCKDK	1.77221741
15	TXK	1.77127177
16	BMPR1B	1.69879958
17	WNK3	1.60098087
18	INSRR	1.60022875
19	TAOK3	1.51197300
20	FGFR2	1.43321190
21	VRK1	1.43040893
22	MAP3K12	1.42590953
23	MUSK	1.39333395
24	BUB1	1.37195141
25	MKNK1	1.31149276
26	TIE1	1.28492502
27	CSNK1G3	1.24548139
28	CSNK1G1	1.18135248
29	PHKG2	1.17736435
30	PHKG1	1.17736435
31	NME1	1.17503429
32	IKBKB	1.14488423
33	TRIM28	1.13159121
34	MKNK2	1.12421547
35	MAP2K6	1.10746714
36	OXSR1	1.08537199
37	SRPK1	1.08474811
38	NEK1	1.05605633
39	MAP3K13	1.05468954
40	WNK4	1.05008621
41	DAPK2	1.03997207
42	CSNK1G2	1.01835598
43	EIF2AK1	1.00657071
44	PLK2	0.94289545
45	ITK	0.90314057
46	MAPKAPK3	0.89556809
47	ACVR1B	0.87164820
48	MAP3K14	0.83552956
49	CSNK1A1L	0.82865812
50	BCR	0.81587715
51	TESK2	0.78429715
52	PLK1	0.78048092
53	LIMK1	0.75035498
54	RPS6KA5	0.75012924
55	FER	0.74493260
56	TAF1	0.73319515
57	DYRK2	0.73023358
58	DAPK1	0.72710241
59	CDK19	0.69842865
60	CHUK	0.67370398
61	PRKCE	0.66919863
62	EIF2AK2	0.64382900
63	MAPKAPK5	0.64218671
64	NEK9	0.63313290
65	PINK1	0.62422003
66	PRKCQ	0.61268436
67	IKBKE	0.60782023
68	ERBB3	0.60466376
69	ATR	0.59899202
70	NLK	0.59800977
71	PRKCG	0.59637901
72	FGFR3	0.59007802
73	SIK3	0.58832274
74	PBK	0.58582077
75	KIT	0.57772233
76	PLK4	0.57118452
77	NME2	0.56975310
78	STK16	0.56629498
79	TEC	0.55829016
80	IRAK1	0.54134649
81	BRSK2	0.53695470
82	PTK2B	0.52484041
83	FLT3	0.48501187
84	PRKAA2	0.48497166
85	MAP2K7	0.46765099
86	ADRBK1	0.44509508
87	HIPK2	0.42062356
88	PAK3	0.40787991
89	MAP3K4	0.40488294
90	TGFBR1	0.39727096
91	ATM	0.39481825
92	WEE1	0.39280862
93	KDR	0.37736202
94	CSNK1A1	0.37316072
95	CSNK2A1	0.37257268
96	TNIK	0.36501724
97	CSNK2A2	0.34893815
98	STK3	0.34841116
99	TNK2	0.34095820
100	PRKCA	0.32187729

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Proteasome_Homo sapiens_hsa03050	4.07194782
2	Maturity onset diabetes of the young_Homo sapiens_hsa04950	3.97026880
3	Protein export_Homo sapiens_hsa03060	3.33902510
4	Oxidative phosphorylation_Homo sapiens_hsa00190	2.76933941
5	One carbon pool by folate_Homo sapiens_hsa00670	2.44136316
6	Synthesis and degradation of ketone bodies_Homo sapiens_hsa00072	2.36237651
7	Parkinsons disease_Homo sapiens_hsa05012	2.11946614
8	RNA polymerase_Homo sapiens_hsa03020	2.03649804
9	Butanoate metabolism_Homo sapiens_hsa00650	1.97960646
10	Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970	1.97600814
11	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	1.92805587
12	Propanoate metabolism_Homo sapiens_hsa00640	1.92716132
13	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.90652495
14	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	1.89145546
15	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.85016022
16	Type I diabetes mellitus_Homo sapiens_hsa04940	1.80417235
17	Homologous recombination_Homo sapiens_hsa03440	1.78398752
18	Selenocompound metabolism_Homo sapiens_hsa00450	1.60683816
19	Fatty acid elongation_Homo sapiens_hsa00062	1.57136877
20	Basal transcription factors_Homo sapiens_hsa03022	1.51701780
21	Tryptophan metabolism_Homo sapiens_hsa00380	1.45919300
22	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.44063878
23	Steroid biosynthesis_Homo sapiens_hsa00100	1.40126968
24	Regulation of autophagy_Homo sapiens_hsa04140	1.38674519
25	Phototransduction_Homo sapiens_hsa04744	1.36158980
26	RNA degradation_Homo sapiens_hsa03018	1.31791887
27	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.31105682
28	RNA transport_Homo sapiens_hsa03013	1.30943985
29	Linoleic acid metabolism_Homo sapiens_hsa00591	1.30185134
30	Peroxisome_Homo sapiens_hsa04146	1.29863129
31	Huntingtons disease_Homo sapiens_hsa05016	1.28407313
32	Mismatch repair_Homo sapiens_hsa03430	1.26477695
33	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.22545771
34	Taurine and hypotaurine metabolism_Homo sapiens_hsa00430	1.20986643
35	Alzheimers disease_Homo sapiens_hsa05010	1.16385770
36	Purine metabolism_Homo sapiens_hsa00230	1.15254446
37	Folate biosynthesis_Homo sapiens_hsa00790	1.13175607
38	Pyrimidine metabolism_Homo sapiens_hsa00240	1.11619074
39	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.10503550
40	Cytosolic DNA-sensing pathway_Homo sapiens_hsa04623	1.08635098
41	alpha-Linolenic acid metabolism_Homo sapiens_hsa00592	1.05786098
42	Primary immunodeficiency_Homo sapiens_hsa05340	1.03126560
43	Intestinal immune network for IgA production_Homo sapiens_hsa04672	0.99190260
44	Nucleotide excision repair_Homo sapiens_hsa03420	0.98660328
45	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.97618583
46	Non-homologous end-joining_Homo sapiens_hsa03450	0.96740310
47	Allograft rejection_Homo sapiens_hsa05330	0.94941016
48	Asthma_Homo sapiens_hsa05310	0.94880003
49	DNA replication_Homo sapiens_hsa03030	0.93394598
50	Fanconi anemia pathway_Homo sapiens_hsa03460	0.92845428
51	Ether lipid metabolism_Homo sapiens_hsa00565	0.92689397
52	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.91701333
53	Glutathione metabolism_Homo sapiens_hsa00480	0.89921180
54	Collecting duct acid secretion_Homo sapiens_hsa04966	0.89772715
55	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.88109672
56	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	0.86610211
57	Sulfur metabolism_Homo sapiens_hsa00920	0.83456656
58	Autoimmune thyroid disease_Homo sapiens_hsa05320	0.82406577
59	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	0.81857993
60	Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa00601	0.80705310
61	Metabolic pathways_Homo sapiens_hsa01100	0.80131308
62	Nitrogen metabolism_Homo sapiens_hsa00910	0.76401458
63	Pyruvate metabolism_Homo sapiens_hsa00620	0.75815349
64	Caffeine metabolism_Homo sapiens_hsa00232	0.74983256
65	Fatty acid metabolism_Homo sapiens_hsa01212	0.72392892
66	Neuroactive ligand-receptor interaction_Homo sapiens_hsa04080	0.70588948
67	Cardiac muscle contraction_Homo sapiens_hsa04260	0.70313443
68	Base excision repair_Homo sapiens_hsa03410	0.70150887
69	Fatty acid degradation_Homo sapiens_hsa00071	0.69304931
70	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.69036586
71	Graft-versus-host disease_Homo sapiens_hsa05332	0.68171191
72	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.66472284
73	Rheumatoid arthritis_Homo sapiens_hsa05323	0.61686914
74	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.61416507
75	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.60144618
76	beta-Alanine metabolism_Homo sapiens_hsa00410	0.59512060
77	Taste transduction_Homo sapiens_hsa04742	0.59231571
78	Spliceosome_Homo sapiens_hsa03040	0.58796392
79	Retinol metabolism_Homo sapiens_hsa00830	0.58060135
80	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	0.57856909
81	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.57630086
82	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.57335126
83	Chemical carcinogenesis_Homo sapiens_hsa05204	0.56432670
84	Antigen processing and presentation_Homo sapiens_hsa04612	0.56004510
85	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.54863051
86	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.52830832
87	Insulin secretion_Homo sapiens_hsa04911	0.52487870
88	Pantothenate and CoA biosynthesis_Homo sapiens_hsa00770	0.51005508
89	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	0.48465201
90	Mineral absorption_Homo sapiens_hsa04978	0.47955131
91	Mucin type O-Glycan biosynthesis_Homo sapiens_hsa00512	0.46349712
92	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	0.46292773
93	Olfactory transduction_Homo sapiens_hsa04740	0.45841309
94	N-Glycan biosynthesis_Homo sapiens_hsa00510	0.44116582
95	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.42587655
96	Ribosome_Homo sapiens_hsa03010	0.42436840
97	Carbon metabolism_Homo sapiens_hsa01200	0.38248694
98	Type II diabetes mellitus_Homo sapiens_hsa04930	0.36699803
99	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	0.35322627
100	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	0.35279339

ENO1P1

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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