ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	response to muscle activity (GO:0014850)	7.96231058
2	ADP metabolic process (GO:0046031)	6.67087838
3	AMP metabolic process (GO:0046033)	6.12942529
4	muscle cell cellular homeostasis (GO:0046716)	5.79576807
5	regulation of oxidative phosphorylation (GO:0002082)	5.79049768
6	positive regulation of synaptic transmission, dopaminergic (GO:0032226)	5.57302211
7	* response to zinc ion (GO:0010043)	5.47877378
8	nucleoside diphosphate biosynthetic process (GO:0009133)	5.31729160
9	coenzyme catabolic process (GO:0009109)	4.95495229
10	activation of protein kinase B activity (GO:0032148)	4.90739549
11	regulation of oxidative stress-induced neuron death (GO:1903203)	4.86047877
12	myofibril assembly (GO:0030239)	4.82120732
13	positive regulation of catecholamine secretion (GO:0033605)	4.65752800
14	nucleobase-containing small molecule interconversion (GO:0015949)	4.48562760
15	actin-myosin filament sliding (GO:0033275)	4.38134938
16	muscle filament sliding (GO:0030049)	4.38134938
17	negative regulation of hydrogen peroxide-induced cell death (GO:1903206)	4.20725629
18	negative regulation of response to reactive oxygen species (GO:1901032)	4.20431635
19	purine nucleoside diphosphate metabolic process (GO:0009135)	4.13951899
20	purine ribonucleoside diphosphate metabolic process (GO:0009179)	4.13951899
21	fructose metabolic process (GO:0006000)	4.08438167
22	* response to cadmium ion (GO:0046686)	4.02469018
23	negative regulation of lipase activity (GO:0060192)	4.01713994
24	regulation of skeletal muscle contraction (GO:0014819)	3.73857787
25	actin-mediated cell contraction (GO:0070252)	3.70909056
26	regulation of cellular respiration (GO:0043457)	3.64112345
27	regulation of hydrogen peroxide-induced cell death (GO:1903205)	3.53027442
28	cofactor catabolic process (GO:0051187)	3.52319680
29	xenobiotic catabolic process (GO:0042178)	3.50840864
30	sarcomere organization (GO:0045214)	3.43767124
31	response to mercury ion (GO:0046689)	3.38303445
32	regulation of protein sumoylation (GO:0033233)	3.34380861
33	cytolysis (GO:0019835)	3.29500227
34	triglyceride homeostasis (GO:0070328)	3.28137310
35	acylglycerol homeostasis (GO:0055090)	3.28137310
36	skeletal muscle fiber development (GO:0048741)	3.26907108
37	nucleotide-sugar biosynthetic process (GO:0009226)	3.26756573
38	ribonucleoside diphosphate metabolic process (GO:0009185)	3.19135288
39	nucleoside diphosphate phosphorylation (GO:0006165)	3.18109758
40	myotube cell development (GO:0014904)	3.11019994
41	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	3.10213912
42	regulation of relaxation of muscle (GO:1901077)	3.07908441
43	omega-hydroxylase P450 pathway (GO:0097267)	3.06610864
44	* cellular response to metal ion (GO:0071248)	3.04632219
45	positive regulation of wound healing (GO:0090303)	3.04186530
46	regulation of myoblast differentiation (GO:0045661)	2.99065513
47	regulation of autophagic vacuole assembly (GO:2000785)	2.96731954
48	TOR signaling (GO:0031929)	2.92353462
49	positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)	2.92114819
50	skeletal muscle contraction (GO:0003009)	2.87855992
51	positive regulation of protein kinase C signaling (GO:0090037)	2.86413626
52	response to activity (GO:0014823)	2.83815072
53	UDP-N-acetylglucosamine metabolic process (GO:0006047)	2.83563090
54	negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)	2.78955553
55	gluconeogenesis (GO:0006094)	2.77604690
56	mitochondrion morphogenesis (GO:0070584)	2.77380013
57	cellular zinc ion homeostasis (GO:0006882)	2.73833832
58	hexose biosynthetic process (GO:0019319)	2.73813037
59	erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)	2.73360700
60	L-phenylalanine metabolic process (GO:0006558)	2.73360700
61	erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)	2.72445133
62	L-phenylalanine catabolic process (GO:0006559)	2.72445133
63	glycogen metabolic process (GO:0005977)	2.72213747
64	mitochondrion degradation (GO:0000422)	2.72132866
65	cellular response to arsenic-containing substance (GO:0071243)	2.71050235
66	response to salt stress (GO:0009651)	2.68728626
67	* cellular response to inorganic substance (GO:0071241)	2.67764853
68	negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)	2.67598598
69	cellular glucan metabolic process (GO:0006073)	2.66660685
70	glucan metabolic process (GO:0044042)	2.66660685
71	mitochondrial electron transport, NADH to ubiquinone (GO:0006120)	2.65811434
72	acute-phase response (GO:0006953)	2.65011521
73	regulation of calcineurin-NFAT signaling cascade (GO:0070884)	2.64032775
74	glutathione derivative metabolic process (GO:1901685)	2.63746409
75	glutathione derivative biosynthetic process (GO:1901687)	2.63746409
76	cellular response to toxic substance (GO:0097237)	2.59930327
77	actin filament-based movement (GO:0030048)	2.56135701
78	mesenchymal-epithelial cell signaling (GO:0060638)	2.55211745
79	* response to transition metal nanoparticle (GO:1990267)	2.51568430
80	epoxygenase P450 pathway (GO:0019373)	2.51054804
81	proteasome assembly (GO:0043248)	2.51047101
82	regulation of lipoprotein lipase activity (GO:0051004)	2.49999701
83	glycogen catabolic process (GO:0005980)	2.48963752
84	endocrine hormone secretion (GO:0060986)	2.47112769
85	muscle fiber development (GO:0048747)	2.45631536
86	monosaccharide biosynthetic process (GO:0046364)	2.44549380
87	L-ascorbic acid metabolic process (GO:0019852)	2.43347782
88	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	2.42388663
89	positive regulation of p38MAPK cascade (GO:1900745)	2.41037078
90	negative regulation of reactive oxygen species metabolic process (GO:2000378)	2.39648602
91	response to ischemia (GO:0002931)	2.39576804
92	copper ion transport (GO:0006825)	2.39264091
93	regulation of protein kinase C signaling (GO:0090036)	2.39069322
94	negative regulation of homotypic cell-cell adhesion (GO:0034111)	2.38169344
95	lactate metabolic process (GO:0006089)	2.36282757
96	regulation of phospholipase A2 activity (GO:0032429)	2.35917001
97	nitric oxide mediated signal transduction (GO:0007263)	2.35556205
98	positive regulation of lipoprotein lipase activity (GO:0051006)	2.33711301
99	* cellular response to zinc ion (GO:0071294)	15.8073963
100	* cellular response to cadmium ion (GO:0071276)	10.9456453

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	6.07473901
2	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	5.89888118
3	PPARG_19300518_ChIP-PET_3T3-L1_Mouse	4.65255360
4	ESR1_17901129_ChIP-ChIP_LIVER_Mouse	4.33031605
5	BP1_19119308_ChIP-ChIP_Hs578T_Human	3.95756035
6	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	3.48650170
7	HIF1A_21447827_ChIP-Seq_MCF-7_Human	3.47324753
8	RXR_22158963_ChIP-Seq_LIVER_Mouse	2.83892232
9	EGR1_23403033_ChIP-Seq_LIVER_Mouse	2.79517985
10	FOXO1_23066095_ChIP-Seq_LIVER_Mouse	2.76346998
11	PPARA_22158963_ChIP-Seq_LIVER_Mouse	2.57486590
12	TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse	2.51905455
13	LXR_22158963_ChIP-Seq_LIVER_Mouse	2.41096326
14	CEBPB_23403033_ChIP-Seq_LIVER_Mouse	2.21665397
15	ESR2_21235772_ChIP-Seq_MCF-7_Human	2.19452588
16	CEBPA_23403033_ChIP-Seq_LIVER_Mouse	2.09639374
17	SMAD4_19686287_ChIP-ChIP_HaCaT_Human	2.08035667
18	ESR1_20079471_ChIP-ChIP_T-47D_Human	2.05117791
19	RARG_19884340_ChIP-ChIP_MEFs_Mouse	1.94421829
20	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	1.93759287
21	PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse	1.92574885
22	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.75215882
23	ATF3_23680149_ChIP-Seq_GBM1-GSC_Human	1.70909117
24	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.61139005
25	ESR1_21235772_ChIP-Seq_MCF-7_Human	1.60605239
26	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.57075397
27	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.57075397
28	TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.56079080
29	CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse	1.52024145
30	CLOCK_20551151_ChIP-Seq_293T_Human	1.49113947
31	CJUN_26792858_Chip-Seq_BT549_Human	1.45212168
32	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.43295261
33	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.40112845
34	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	1.39649599
35	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.36677583
36	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.29932926
37	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	1.29124383
38	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	1.29124383
39	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	1.29124383
40	JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.28179736
41	NR0B1_18358816_ChIP-ChIP_MESCs_Mouse	1.26653437
42	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	1.26406950
43	HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse	1.26367485
44	* SOX2_20726797_ChIP-Seq_SW620_Human	1.24807145
45	RAD21_21589869_ChIP-Seq_MESCs_Mouse	1.21646284
46	EP300_21415370_ChIP-Seq_HL-1_Mouse	1.21467409
47	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	1.21000383
48	PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse	1.18613794
49	* ATF3_27146783_Chip-Seq_COLON_Human	1.09371521
50	JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human	1.09154647
51	ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human	1.08983986
52	HTT_18923047_ChIP-ChIP_STHdh_Human	1.05806619
53	SMC3_22415368_ChIP-Seq_MEFs_Mouse	1.03952191
54	STAT3_1855785_ChIP-Seq_MESCs_Mouse	1.03483102
55	SMAD2_18955504_ChIP-ChIP_HaCaT_Human	1.01785292
56	SMAD3_18955504_ChIP-ChIP_HaCaT_Human	1.01785292
57	HNF4A_19761587_ChIP-ChIP_CACO-2_Human	1.00139434
58	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	0.99132556
59	ETS1_20019798_ChIP-Seq_JURKAT_Human	0.95865296
60	NANOG_18700969_ChIP-ChIP_MESCs_Mouse	0.95054876
61	SOX3_22085726_ChIP-Seq_MUSCLE_Mouse	0.94368017
62	DCP1A_22483619_ChIP-Seq_HELA_Human	0.93235709
63	STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse	0.92579471
64	CBP_21632823_ChIP-Seq_H3396_Human	0.90814023
65	GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse	0.89856731
66	PPARG_20887899_ChIP-Seq_3T3-L1_Mouse	0.89247707
67	MYC_19829295_ChIP-Seq_ESCs_Human	0.86971096
68	VDR_22108803_ChIP-Seq_LS180_Human	0.86537378
69	NR1I2_20693526_ChIP-Seq_LIVER_Mouse	0.85293568
70	CSB_26484114_Chip-Seq_FIBROBLAST_Human	0.85260866
71	FOXH1_21741376_ChIP-Seq_EPCs_Human	0.81806090
72	BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human	0.81694532
73	TBX5_21415370_ChIP-Seq_HL-1_Mouse	0.81063291
74	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	0.79896239
75	STAT1_20625510_ChIP-Seq_HELA_Human	0.79737228
76	GATA3_24758297_ChIP-Seq_MCF-7_Human	0.78668565
77	SALL4_18804426_ChIP-ChIP_XEN_Mouse	0.77380828
78	RUNX2_24764292_ChIP-Seq_MC3T3_Mouse	0.76527085
79	RXR_22108803_ChIP-Seq_LS180_Human	0.76093163
80	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.75954750
81	EST1_17652178_ChIP-ChIP_JURKAT_Human	0.75393320
82	ELF5_23300383_ChIP-Seq_T47D_Human	0.75135105
83	CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.73374229
84	TET1_21451524_ChIP-Seq_MESCs_Mouse	0.73349483
85	CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse	0.72343965
86	CDX2_22108803_ChIP-Seq_LS180_Human	0.71881991
87	P63_26484246_Chip-Seq_KERATINOCYTES_Human	0.71776007
88	RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human	0.71296323
89	BMI1_19503595_ChIP-Seq_MEFsC_Mouse	0.71101126
90	BRD4_25478319_ChIP-Seq_HGPS_Human	0.70487808
91	* NANOG_20526341_ChIP-Seq_ESCs_Human	0.70063126
92	CEBPB_26923725_Chip-Seq_MACROPHAGESS_Mouse	0.69517027
93	CTCF_18555785_ChIP-Seq_MESCs_Mouse	0.68732903
94	RAC3_21632823_ChIP-Seq_H3396_Human	0.68423422
95	PPAR_26484153_Chip-Seq_NCI-H1993_Human	0.67844195
96	RXRA_24833708_ChIP-Seq_LIVER_Mouse	0.67824799
97	SA1_22415368_ChIP-Seq_MEFs_Mouse	0.66656211
98	LDB1_21186366_ChIP-Seq_BM-HSCs_Mouse	0.66197787
99	ELK1_22589737_ChIP-Seq_MCF10A_Human	0.66169926
100	ZNF263_19887448_ChIP-Seq_K562_Human	0.66003356

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003806_abnormal_nucleotide_metabolis	6.83659731
2	MP0000749_muscle_degeneration	5.62004486
3	MP0002837_dystrophic_cardiac_calcinosis	5.37028030
4	MP0003011_delayed_dark_adaptation	5.01783355
5	MP0003950_abnormal_plasma_membrane	3.53728216
6	MP0009840_abnormal_foam_cell	2.88399509
7	MP0004084_abnormal_cardiac_muscle	2.76724854
8	MP0006036_abnormal_mitochondrial_physio	2.70141749
9	MP0005330_cardiomyopathy	2.50740641
10	MP0004510_myositis	2.49185053
11	MP0005360_urolithiasis	2.47970095
12	MP0010368_abnormal_lymphatic_system	2.29696875
13	MP0003646_muscle_fatigue	2.22062022
14	MP0002269_muscular_atrophy	2.21641482
15	MP0005451_abnormal_body_composition	2.19379558
16	MP0010234_abnormal_vibrissa_follicle	2.19348949
17	MP0009780_abnormal_chondrocyte_physiolo	2.13928805
18	MP0004036_abnormal_muscle_relaxation	2.09789588
19	MP0000343_altered_response_to	2.08844903
20	MP0004233_abnormal_muscle_weight	2.04294954
21	MP0001879_abnormal_lymphatic_vessel	1.99716230
22	MP0004215_abnormal_myocardial_fiber	1.97773282
23	MP0002254_reproductive_system_inflammat	1.96991887
24	MP0002139_abnormal_hepatobiliary_system	1.93559750
25	MP0003186_abnormal_redox_activity	1.87349703
26	MP0004019_abnormal_vitamin_homeostasis	1.78386350
27	MP0005670_abnormal_white_adipose	1.72699298
28	MP0005666_abnormal_adipose_tissue	1.68622688
29	MP0003195_calcinosis	1.63408249
30	MP0002108_abnormal_muscle_morphology	1.59675976
31	MP0002295_abnormal_pulmonary_circulatio	1.57876841
32	MP0000759_abnormal_skeletal_muscle	1.55416363
33	MP0004087_abnormal_muscle_fiber	1.47915391
34	MP0009697_abnormal_copulation	1.44998209
35	MP0005620_abnormal_muscle_contractility	1.44092694
36	MP0000750_abnormal_muscle_regeneration	1.32916281
37	MP0010329_abnormal_lipoprotein_level	1.31575897
38	MP0008004_abnormal_stomach_pH	1.29113202
39	MP0004272_abnormal_basement_membrane	1.28933837
40	MP0000747_muscle_weakness	1.28024927
41	MP0000751_myopathy	1.25465271
42	MP0008875_abnormal_xenobiotic_pharmacok	1.25265146
43	MP0002972_abnormal_cardiac_muscle	1.24458312
44	MP0005266_abnormal_metabolism	1.24179587
45	MP0008775_abnormal_heart_ventricle	1.22861357
46	MP0005375_adipose_tissue_phenotype	1.19346560
47	MP0005058_abnormal_lysosome_morphology	1.17862386
48	MP0005166_decreased_susceptibility_to	1.16878201
49	MP0005410_abnormal_fertilization	1.16358707
50	MP0010030_abnormal_orbit_morphology	1.15567969
51	MP0004484_altered_response_of	1.14637536
52	MP0001661_extended_life_span	1.10505493
53	MP0005332_abnormal_amino_acid	1.06024534
54	MP0005369_muscle_phenotype	1.00063692
55	MP0005275_abnormal_skin_tensile	0.96494403
56	MP0006138_congestive_heart_failure	0.96230188
57	MP0001984_abnormal_olfaction	0.95574293
58	MP0005584_abnormal_enzyme/coenzyme_acti	0.92766022
59	MP0008438_abnormal_cutaneous_collagen	0.92082279
60	MP0002138_abnormal_hepatobiliary_system	0.86545305
61	MP0002332_abnormal_exercise_endurance	0.86209672
62	MP0003279_aneurysm	0.85368137
63	MP0001849_ear_inflammation	0.83032228
64	MP0002876_abnormal_thyroid_physiology	0.81876423
65	MP0000762_abnormal_tongue_morphology	0.81396960
66	MP0002118_abnormal_lipid_homeostasis	0.80787371
67	MP0002971_abnormal_brown_adipose	0.80537070
68	MP0002132_abnormal_respiratory_system	0.80262840
69	MP0001299_abnormal_eye_distance/	0.79566082
70	MP0001501_abnormal_sleep_pattern	0.78917960
71	MP0005376_homeostasis/metabolism_phenot	0.78038699
72	MP0000013_abnormal_adipose_tissue	0.77997819
73	MP0008260_abnormal_autophagy	0.77919089
74	MP0003075_altered_response_to	0.77518910
75	MP0002106_abnormal_muscle_physiology	0.76571258
76	MP0002160_abnormal_reproductive_system	0.76358775
77	MP0001905_abnormal_dopamine_level	0.76030930
78	MP0001853_heart_inflammation	0.74411903
79	MP0002078_abnormal_glucose_homeostasis	0.72606023
80	MP0003315_abnormal_perineum_morphology	0.72516247
81	MP0005334_abnormal_fat_pad	0.72237120
82	MP0001764_abnormal_homeostasis	0.72020868
83	MP0001756_abnormal_urination	0.71690708
84	MP0005023_abnormal_wound_healing	0.70865354
85	MP0002796_impaired_skin_barrier	0.70791471
86	MP0004145_abnormal_muscle_electrophysio	0.69854322
87	MP0005385_cardiovascular_system_phenoty	0.68540237
88	MP0001544_abnormal_cardiovascular_syste	0.68540237
89	MP0005319_abnormal_enzyme/_coenzyme	0.68331690
90	MP0003453_abnormal_keratinocyte_physiol	0.67273487
91	MP0003718_maternal_effect	0.66274654
92	MP0003868_abnormal_feces_composition	0.65194423
93	MP0006072_abnormal_retinal_apoptosis	0.64158522
94	MP0005448_abnormal_energy_balance	0.63077767
95	MP0005452_abnormal_adipose_tissue	0.62969712
96	MP0005595_abnormal_vascular_smooth	0.62889451
97	MP0004043_abnormal_pH_regulation	0.60794636
98	MP0005365_abnormal_bile_salt	0.60485343
99	MP0005165_increased_susceptibility_to	0.58356640
100	MP0001502_abnormal_circadian_rhythm	0.56870498

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	5.82354412
2	Hyporeflexia of lower limbs (HP:0002600)	5.57453969
3	Muscle fiber inclusion bodies (HP:0100299)	5.54602753
4	Exercise-induced myalgia (HP:0003738)	5.26349082
5	Abnormality of the calf musculature (HP:0001430)	5.18747414
6	Scapular winging (HP:0003691)	5.17742020
7	Exercise-induced muscle cramps (HP:0003710)	5.11226176
8	EMG: myopathic abnormalities (HP:0003458)	4.95403118
9	Right ventricular cardiomyopathy (HP:0011663)	4.74969094
10	Rimmed vacuoles (HP:0003805)	4.60728949
11	Clumsiness (HP:0002312)	4.47103992
12	Abnormality of the shoulder girdle musculature (HP:0001435)	4.40062723
13	Muscle fiber splitting (HP:0003555)	4.25872588
14	Neck muscle weakness (HP:0000467)	4.09497835
15	Calf muscle hypertrophy (HP:0008981)	4.03596227
16	Myoglobinuria (HP:0002913)	3.90956668
17	Rhabdomyolysis (HP:0003201)	3.83699265
18	Muscle hypertrophy of the lower extremities (HP:0008968)	3.82232431
19	Proximal amyotrophy (HP:0007126)	3.78556866
20	Limb-girdle muscle atrophy (HP:0003797)	3.70922383
21	Resting tremor (HP:0002322)	3.65260689
22	Centrally nucleated skeletal muscle fibers (HP:0003687)	3.59250128
23	Myopathic facies (HP:0002058)	3.46326234
24	Nemaline bodies (HP:0003798)	3.43734237
25	Eosinophilia (HP:0001880)	3.29705894
26	Increased variability in muscle fiber diameter (HP:0003557)	3.14173986
27	Bulbar palsy (HP:0001283)	3.11527283
28	Abnormality of the intrinsic pathway (HP:0010989)	3.06642998
29	Axonal loss (HP:0003447)	3.05435389
30	Type 1 muscle fiber predominance (HP:0003803)	3.00767510
31	Reduced antithrombin III activity (HP:0001976)	2.99707548
32	Abnormality of skeletal muscle fiber size (HP:0012084)	2.98272277
33	Muscle stiffness (HP:0003552)	2.97744975
34	Diaphragmatic weakness (HP:0009113)	2.95953203
35	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	2.90162495
36	Decreased activity of mitochondrial respiratory chain (HP:0008972)	2.90162495
37	Abnormality of aromatic amino acid family metabolism (HP:0004338)	2.89801471
38	Spinal rigidity (HP:0003306)	2.80429815
39	Distal arthrogryposis (HP:0005684)	2.78450860
40	Foot dorsiflexor weakness (HP:0009027)	2.76671778
41	Frequent falls (HP:0002359)	2.70812476
42	Respiratory insufficiency due to muscle weakness (HP:0002747)	2.67439017
43	Abnormality of the foot musculature (HP:0001436)	2.67100134
44	Hyperinsulinemic hypoglycemia (HP:0000825)	2.59961226
45	Prolonged partial thromboplastin time (HP:0003645)	2.56904506
46	Systemic lupus erythematosus (HP:0002725)	2.56579105
47	Acute necrotizing encephalopathy (HP:0006965)	2.51691111
48	Progressive macrocephaly (HP:0004481)	2.50256505
49	Difficulty running (HP:0009046)	2.48320238
50	Granulocytopenia (HP:0001913)	2.45484774
51	Complement deficiency (HP:0004431)	2.44070054
52	Muscular dystrophy (HP:0003560)	2.44018789
53	Hypoglycemic coma (HP:0001325)	2.37770295
54	Weak cry (HP:0001612)	2.34619811
55	Sudden death (HP:0001699)	2.33307964
56	Abnormality of monocarboxylic acid metabolism (HP:0010996)	2.32491364
57	Popliteal pterygium (HP:0009756)	2.27800645
58	Abnormality of placental membranes (HP:0011409)	2.25661565
59	Amniotic constriction ring (HP:0009775)	2.25661565
60	Difficulty walking (HP:0002355)	2.25531920
61	Abnormal mitochondria in muscle tissue (HP:0008316)	2.20829477
62	Mitochondrial inheritance (HP:0001427)	2.20045572
63	Malignant hyperthermia (HP:0002047)	2.19801871
64	Hypoglycemic seizures (HP:0002173)	2.19250746
65	Symptomatic seizures (HP:0011145)	2.16816595
66	Acute encephalopathy (HP:0006846)	2.15631407
67	Exercise intolerance (HP:0003546)	2.13176258
68	Nonprogressive disorder (HP:0003680)	2.09755382
69	Generalized amyotrophy (HP:0003700)	2.07838888
70	Abnormal gallbladder physiology (HP:0012438)	2.06091590
71	Cholecystitis (HP:0001082)	2.06091590
72	Ketosis (HP:0001946)	2.05582111
73	Hepatic necrosis (HP:0002605)	2.02973954
74	Dilated cardiomyopathy (HP:0001644)	2.02802287
75	Difficulty climbing stairs (HP:0003551)	2.01958598
76	Xanthomatosis (HP:0000991)	1.99749526
77	Hepatocellular necrosis (HP:0001404)	1.99452783
78	Increased serum pyruvate (HP:0003542)	1.98913028
79	Back pain (HP:0003418)	1.97107279
80	Ventricular fibrillation (HP:0001663)	1.97091465
81	Increased muscle lipid content (HP:0009058)	1.96620774
82	Insulin-resistant diabetes mellitus (HP:0000831)	1.94976992
83	Azoospermia (HP:0000027)	1.94015496
84	Lipid accumulation in hepatocytes (HP:0006561)	1.91685175
85	Areflexia of lower limbs (HP:0002522)	1.91146002
86	Abnormality of complement system (HP:0005339)	1.90963583
87	Generalized aminoaciduria (HP:0002909)	1.86598791
88	Cerebral hypomyelination (HP:0006808)	1.84962462
89	Abnormality of eosinophils (HP:0001879)	1.84623638
90	Aplasia cutis congenita (HP:0001057)	1.84534113
91	Abnormality of glycolysis (HP:0004366)	1.84050572
92	Conjunctival hamartoma (HP:0100780)	1.81656883
93	Hyperlipoproteinemia (HP:0010980)	1.81551893
94	Increased CSF lactate (HP:0002490)	1.80889177
95	Lipoatrophy (HP:0100578)	1.77668645
96	Bundle branch block (HP:0011710)	1.77115862
97	Abnormality of the neuromuscular junction (HP:0003398)	1.76420395
98	Fatigable weakness (HP:0003473)	1.76420395
99	Recurrent corneal erosions (HP:0000495)	1.76067978
100	Cerebral edema (HP:0002181)	1.72582280

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	PINK1	8.64249406
2	OBSCN	5.90099700
3	ARAF	3.39535609
4	NME2	2.95229304
5	PHKG1	2.78854439
6	PHKG2	2.78854439
7	MARK3	2.63465882
8	MAP3K9	2.62734851
9	MAP3K3	2.53894360
10	MAP3K13	2.45019993
11	STK24	2.44353243
12	LATS2	2.26871566
13	MAP4K2	1.84956602
14	MUSK	1.80074879
15	MAP3K1	1.70979639
16	EIF2AK3	1.65988111
17	MOS	1.59648564
18	PBK	1.58073082
19	PDK2	1.54726045
20	FRK	1.43721244
21	MST4	1.33274658
22	STK38L	1.24899319
23	ABL2	1.23566742
24	GRK1	1.23298002
25	LATS1	1.20019648
26	ILK	1.16111375
27	MYLK	1.14079888
28	DDR2	1.06944213
29	MAPKAPK3	1.06392895
30	MAPK12	1.04715444
31	AKT2	0.98031732
32	STK16	0.91728280
33	BRAF	0.90219813
34	PRKG2	0.88753358
35	NME1	0.85333731
36	TESK1	0.85324556
37	ZAK	0.81864166
38	BMPR1B	0.79311624
39	SGK494	0.77749460
40	SGK223	0.77749460
41	MAP3K12	0.75153557
42	NLK	0.74178078
43	TIE1	0.70343370
44	IRAK3	0.68390696
45	CLK1	0.67141237
46	ROCK2	0.66619805
47	STK3	0.66249565
48	CSNK1G1	0.63875704
49	CSNK1G3	0.61073744
50	SGK2	0.60340113
51	SGK3	0.60173907
52	TTN	0.59911738
53	ROCK1	0.58671472
54	CSNK1A1L	0.57807033
55	KSR2	0.57060227
56	TRPM7	0.54807118
57	BUB1	0.50484316
58	FGFR2	0.46080524
59	CAMK2G	0.45206192
60	PRKAA2	0.44799300
61	MAP2K7	0.43416205
62	CSNK1G2	0.42097205
63	LIMK1	0.42028003
64	TLK1	0.41502694
65	VRK2	0.41457505
66	RAF1	0.41298865
67	NEK1	0.41261539
68	PRKG1	0.40951756
69	TGFBR1	0.40761484
70	GSK3A	0.37919702
71	PIK3CG	0.36605156
72	GRK5	0.35564226
73	PAK1	0.35312766
74	BCKDK	0.34445731
75	ADRBK2	0.34384440
76	ERBB4	0.33140875
77	CAMK2D	0.32713528
78	STK4	0.31004881
79	EIF2AK1	0.29990743
80	IRAK2	0.29265403
81	PRKCQ	0.28915271
82	RPS6KB1	0.27914297
83	PDPK1	0.25868982
84	AKT3	0.24451286
85	PTK2	0.23866624
86	PIM2	0.23184954
87	LMTK2	0.22419713
88	DAPK3	0.21609393
89	EPHB1	0.21005387
90	MAP2K6	0.19905055
91	PRKACA	0.19247192
92	CSNK1A1	0.18486043
93	CSNK2A2	0.18270204
94	FGFR1	0.18204553
95	STK38	0.18094397
96	TGFBR2	0.18024794
97	PKN1	0.17969078
98	NEK6	0.17760148
99	MAP3K7	0.16771699
100	CSNK2A1	0.15735929

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	* Mineral absorption_Homo sapiens_hsa04978	4.44671140
2	Phenylalanine metabolism_Homo sapiens_hsa00360	2.42529622
3	Arginine biosynthesis_Homo sapiens_hsa00220	2.32786343
4	Drug metabolism - cytochrome P450_Homo sapiens_hsa00982	2.32005521
5	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	2.26310982
6	Chemical carcinogenesis_Homo sapiens_hsa05204	2.25920639
7	Oxidative phosphorylation_Homo sapiens_hsa00190	2.24570385
8	Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa00980	2.22036801
9	Circadian rhythm_Homo sapiens_hsa04710	2.19821085
10	PPAR signaling pathway_Homo sapiens_hsa03320	2.11918256
11	Parkinsons disease_Homo sapiens_hsa05012	1.96996045
12	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.93786656
13	Proteasome_Homo sapiens_hsa03050	1.90533143
14	Complement and coagulation cascades_Homo sapiens_hsa04610	1.89658977
15	Glutathione metabolism_Homo sapiens_hsa00480	1.86382840
16	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	1.79319064
17	Fatty acid degradation_Homo sapiens_hsa00071	1.78817737
18	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	1.77012621
19	Nitrogen metabolism_Homo sapiens_hsa00910	1.76481259
20	Fructose and mannose metabolism_Homo sapiens_hsa00051	1.71457896
21	beta-Alanine metabolism_Homo sapiens_hsa00410	1.71261469
22	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	1.70568349
23	Arginine and proline metabolism_Homo sapiens_hsa00330	1.68796829
24	Sulfur metabolism_Homo sapiens_hsa00920	1.63158459
25	Tyrosine metabolism_Homo sapiens_hsa00350	1.61152209
26	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.60174498
27	Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa00250	1.58758587
28	Maturity onset diabetes of the young_Homo sapiens_hsa04950	1.54603586
29	Propanoate metabolism_Homo sapiens_hsa00640	1.54354151
30	Pyruvate metabolism_Homo sapiens_hsa00620	1.49553337
31	Retinol metabolism_Homo sapiens_hsa00830	1.45862399
32	Histidine metabolism_Homo sapiens_hsa00340	1.44316359
33	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.39838101
34	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	1.39114576
35	Alzheimers disease_Homo sapiens_hsa05010	1.37715615
36	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.36978655
37	Folate biosynthesis_Homo sapiens_hsa00790	1.31038194
38	Pentose and glucuronate interconversions_Homo sapiens_hsa00040	1.29658232
39	Steroid hormone biosynthesis_Homo sapiens_hsa00140	1.28933641
40	Ascorbate and aldarate metabolism_Homo sapiens_hsa00053	1.24907031
41	Tryptophan metabolism_Homo sapiens_hsa00380	1.22820544
42	Cardiac muscle contraction_Homo sapiens_hsa04260	1.21438492
43	Caffeine metabolism_Homo sapiens_hsa00232	1.20646485
44	Carbon metabolism_Homo sapiens_hsa01200	1.20280764
45	Proximal tubule bicarbonate reclamation_Homo sapiens_hsa04964	1.18872083
46	Terpenoid backbone biosynthesis_Homo sapiens_hsa00900	1.16153257
47	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.15051941
48	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	1.08820213
49	Protein export_Homo sapiens_hsa03060	1.07688178
50	Biosynthesis of amino acids_Homo sapiens_hsa01230	1.04777493
51	Butanoate metabolism_Homo sapiens_hsa00650	1.04487578
52	Starch and sucrose metabolism_Homo sapiens_hsa00500	1.00611479
53	Peroxisome_Homo sapiens_hsa04146	0.98514685
54	Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa00603	0.96525589
55	Sulfur relay system_Homo sapiens_hsa04122	0.94349467
56	Regulation of autophagy_Homo sapiens_hsa04140	0.94134293
57	Primary bile acid biosynthesis_Homo sapiens_hsa00120	0.92870572
58	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.92829172
59	Glucagon signaling pathway_Homo sapiens_hsa04922	0.92624530
60	Pentose phosphate pathway_Homo sapiens_hsa00030	0.92583581
61	Huntingtons disease_Homo sapiens_hsa05016	0.91694120
62	Fatty acid elongation_Homo sapiens_hsa00062	0.90475631
63	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	0.89248885
64	Arachidonic acid metabolism_Homo sapiens_hsa00590	0.89006206
65	Dilated cardiomyopathy_Homo sapiens_hsa05414	0.82319642
66	Metabolic pathways_Homo sapiens_hsa01100	0.72581134
67	Vitamin B6 metabolism_Homo sapiens_hsa00750	0.72332197
68	Drug metabolism - other enzymes_Homo sapiens_hsa00983	0.71432686
69	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	0.71143163
70	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	0.67072515
71	Fat digestion and absorption_Homo sapiens_hsa04975	0.65829412
72	Galactose metabolism_Homo sapiens_hsa00052	0.65006674
73	Linoleic acid metabolism_Homo sapiens_hsa00591	0.63606609
74	Fatty acid metabolism_Homo sapiens_hsa01212	0.63477458
75	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	0.62921864
76	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.60490122
77	Ribosome_Homo sapiens_hsa03010	0.59785211
78	One carbon pool by folate_Homo sapiens_hsa00670	0.55219625
79	Porphyrin and chlorophyll metabolism_Homo sapiens_hsa00860	0.53147677
80	Glycerolipid metabolism_Homo sapiens_hsa00561	0.52545948
81	Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa01040	0.52029991
82	Collecting duct acid secretion_Homo sapiens_hsa04966	0.51825974
83	Insulin signaling pathway_Homo sapiens_hsa04910	0.49962059
84	RNA polymerase_Homo sapiens_hsa03020	0.45622294
85	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.44815282
86	Purine metabolism_Homo sapiens_hsa00230	0.43509103
87	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	0.43351454
88	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	0.40745723
89	AMPK signaling pathway_Homo sapiens_hsa04152	0.40323930
90	Prion diseases_Homo sapiens_hsa05020	0.40052207
91	Bile secretion_Homo sapiens_hsa04976	0.36104092
92	Fatty acid biosynthesis_Homo sapiens_hsa00061	0.33172027
93	Insulin resistance_Homo sapiens_hsa04931	0.33138999
94	Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923	0.31388820
95	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.29331109
96	Phototransduction_Homo sapiens_hsa04744	0.29050906
97	Ovarian steroidogenesis_Homo sapiens_hsa04913	0.28302986
98	Renin secretion_Homo sapiens_hsa04924	0.25771355
99	Vitamin digestion and absorption_Homo sapiens_hsa04977	0.24883580
100	Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa00532	0.23985188

MT1X

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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