ARCHS4

Functional Annotation Prediction

Predicted biological processes (GO)

Rank	Gene Set	Z-score
1	piRNA metabolic process (GO:0034587)	8.69046202
2	actin-myosin filament sliding (GO:0033275)	8.42088397
3	muscle filament sliding (GO:0030049)	8.42088397
4	actin-mediated cell contraction (GO:0070252)	7.06461092
5	regulation of meiosis I (GO:0060631)	6.49809135
6	synapsis (GO:0007129)	6.43243241
7	sarcoplasmic reticulum calcium ion transport (GO:0070296)	6.14299804
8	DNA methylation involved in gamete generation (GO:0043046)	6.04689647
9	skeletal muscle contraction (GO:0003009)	6.03268018
10	regulation of relaxation of muscle (GO:1901077)	6.02956278
11	male meiosis I (GO:0007141)	5.89408904
12	regulation of skeletal muscle contraction (GO:0014819)	5.59486741
13	sarcomere organization (GO:0045214)	4.88447032
14	actin filament-based movement (GO:0030048)	4.84489183
15	meiosis I (GO:0007127)	4.79023471
16	regulation of female gonad development (GO:2000194)	4.74855801
17	male meiosis (GO:0007140)	4.71072943
18	chromosome organization involved in meiosis (GO:0070192)	4.69373998
19	striated muscle contraction (GO:0006941)	4.58086776
20	meiotic nuclear division (GO:0007126)	4.52889117
21	myofibril assembly (GO:0030239)	4.40340135
22	positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)	4.35373173
23	regulation of acrosome reaction (GO:0060046)	4.31982722
24	response to muscle activity (GO:0014850)	4.24837611
25	positive regulation of meiosis (GO:0045836)	4.23212357
26	synaptonemal complex organization (GO:0070193)	4.20424062
27	synaptonemal complex assembly (GO:0007130)	4.08125819
28	female gamete generation (GO:0007292)	4.03796950
29	regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	4.03432745
30	meiotic cell cycle (GO:0051321)	3.98603604
31	tricarboxylic acid cycle (GO:0006099)	3.97311065
32	positive regulation of meiotic cell cycle (GO:0051446)	3.93174480
33	* glycogen catabolic process (GO:0005980)	3.90997719
34	* glucan biosynthetic process (GO:0009250)	3.87998231
35	* glycogen biosynthetic process (GO:0005978)	3.87998231
36	* glucan catabolic process (GO:0009251)	3.73700117
37	proteasome assembly (GO:0043248)	3.70945415
38	regulation of DNA methylation (GO:0044030)	3.61547733
39	* cellular polysaccharide catabolic process (GO:0044247)	3.57969211
40	skeletal muscle fiber development (GO:0048741)	3.56163242
41	purine nucleotide salvage (GO:0032261)	3.52117020
42	heart process (GO:0003015)	3.50144690
43	heart contraction (GO:0060047)	3.50144690
44	oocyte development (GO:0048599)	3.47975302
45	cardiac muscle contraction (GO:0060048)	3.42687150
46	response to stimulus involved in regulation of muscle adaptation (GO:0014874)	3.42627743
47	regulation of actin filament-based movement (GO:1903115)	3.41439327
48	actomyosin structure organization (GO:0031032)	3.40474533
49	muscle contraction (GO:0006936)	3.39520674
50	regulation of meiosis (GO:0040020)	3.37252685
51	creatine metabolic process (GO:0006600)	3.34696779
52	negative regulation of reproductive process (GO:2000242)	3.33176750
53	* polysaccharide catabolic process (GO:0000272)	3.28752549
54	regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)	3.24555677
55	phosphorylated carbohydrate dephosphorylation (GO:0046838)	3.23700505
56	inositol phosphate dephosphorylation (GO:0046855)	3.23700505
57	meiotic cell cycle process (GO:1903046)	3.22835809
58	negative regulation of muscle contraction (GO:0045932)	3.22366593
59	regulation of meiotic cell cycle (GO:0051445)	3.21279150
60	gene silencing by RNA (GO:0031047)	3.19681223
61	myotube cell development (GO:0014904)	3.17516146
62	negative regulation of phosphoprotein phosphatase activity (GO:0032515)	3.17323195
63	muscle cell cellular homeostasis (GO:0046716)	3.16173893
64	multicellular organism reproduction (GO:0032504)	3.14750648
65	relaxation of smooth muscle (GO:0044557)	3.11778125
66	positive regulation of histone H3-K4 methylation (GO:0051571)	3.09602246
67	muscle system process (GO:0003012)	3.09342800
68	neutrophil activation involved in immune response (GO:0002283)	3.08672727
69	regulation of cell communication by electrical coupling (GO:0010649)	3.08100835
70	NADH metabolic process (GO:0006734)	3.07974629
71	cullin deneddylation (GO:0010388)	3.04991983
72	cardiac muscle hypertrophy (GO:0003300)	3.03487055
73	binding of sperm to zona pellucida (GO:0007339)	3.01056470
74	* glycogen metabolic process (GO:0005977)	2.97947107
75	positive regulation of mitochondrial calcium ion concentration (GO:0051561)	2.97902445
76	* glucan metabolic process (GO:0044042)	2.94247002
77	* cellular glucan metabolic process (GO:0006073)	2.94247002
78	cardiac myofibril assembly (GO:0055003)	2.92795242
79	relaxation of muscle (GO:0090075)	2.91306538
80	striated muscle hypertrophy (GO:0014897)	2.90907799
81	plasma membrane repair (GO:0001778)	2.89896894
82	response to inactivity (GO:0014854)	2.87529618
83	protein deneddylation (GO:0000338)	2.87194107
84	AMP metabolic process (GO:0046033)	2.86962007
85	skeletal muscle tissue regeneration (GO:0043403)	2.84073538
86	oogenesis (GO:0048477)	2.82584609
87	regulation of striated muscle contraction (GO:0006942)	2.79425979
88	purine-containing compound salvage (GO:0043101)	2.76134723
89	retinal cone cell development (GO:0046549)	2.75901262
90	regulation of ATP catabolic process (GO:1903289)	2.75859158
91	regulation of ATPase activity (GO:0043462)	2.75859158
92	skeletal muscle adaptation (GO:0043501)	2.75206206
93	inositol phosphate catabolic process (GO:0071545)	2.74576437
94	sister chromatid cohesion (GO:0007062)	2.70969157
95	response to activity (GO:0014823)	2.70600056
96	regulation of histone H3-K9 methylation (GO:0051570)	2.70447042
97	cardiac muscle tissue morphogenesis (GO:0055008)	2.69806544
98	muscle tissue morphogenesis (GO:0060415)	2.68226740
99	cardiac muscle cell development (GO:0055013)	2.66871245
100	negative regulation of meiosis (GO:0045835)	2.66572319

Predicted upstream transcription factors (ChEA)

Rank	Gene Set	Z-score
1	E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse	6.09681614
2	BP1_19119308_ChIP-ChIP_Hs578T_Human	5.49233647
3	EZH2_22144423_ChIP-Seq_EOC_Human	5.14002526
4	PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse	3.13433490
5	KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human	3.00485559
6	FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse	2.84158967
7	TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse	2.77993551
8	SMAD_19615063_ChIP-ChIP_OVARY_Human	2.71925241
9	MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse	2.32712726
10	GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse	2.27446938
11	BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse	2.09541969
12	PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse	2.07965438
13	NOTCH1_17114293_ChIP-ChIP_T-ALL_Human	2.07652452
14	EP300_21415370_ChIP-Seq_HL-1_Mouse	2.00181700
15	CREB1_15753290_ChIP-ChIP_HEK293T_Human	1.98996725
16	ESR1_20079471_ChIP-ChIP_T-47D_Human	1.91846119
17	ESRRB_18555785_ChIP-Seq_MESCs_Mouse	1.85187638
18	GABP_17652178_ChIP-ChIP_JURKAT_Human	1.85152939
19	SRF_21415370_ChIP-Seq_HL-1_Mouse	1.76128124
20	EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human	1.75554202
21	FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse	1.70994731
22	RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse	1.68055614
23	HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse	1.66890405
24	TFEB_21752829_ChIP-Seq_HELA_Human	1.64278018
25	STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse	1.62187554
26	MEF2A_21415370_ChIP-Seq_HL-1_Mouse	1.59543322
27	HTT_18923047_ChIP-ChIP_STHdh_Human	1.57779227
28	BCL3_23251550_ChIP-Seq_MUSCLE_Mouse	1.57409828
29	TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse	1.56180839
30	VDR_23849224_ChIP-Seq_CD4+_Human	1.52612210
31	FLI1_27457419_Chip-Seq_LIVER_Mouse	1.43696767
32	GATA4_21415370_ChIP-Seq_HL-1_Mouse	1.42677520
33	TBX20_22328084_ChIP-Seq_HEART_Mouse	1.40476142
34	TBX20_22080862_ChIP-Seq_HEART_Mouse	1.40476142
35	CDX2_19796622_ChIP-Seq_MESCs_Mouse	1.36082887
36	EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human	1.35000074
37	EST1_17652178_ChIP-ChIP_JURKAT_Human	1.33913826
38	ER_23166858_ChIP-Seq_MCF-7_Human	1.33145096
39	HOXB4_20404135_ChIP-ChIP_EML_Mouse	1.32104287
40	PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse	1.29001379
41	Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse	1.28771498
42	IRF8_22096565_ChIP-ChIP_GC-B_Human	1.25507449
43	JARID1A_20064375_ChIP-Seq_MESCs_Mouse	1.24222939
44	FOXP3_21729870_ChIP-Seq_TREG_Human	1.22365584
45	PCGF2_27294783_Chip-Seq_ESCs_Mouse	1.22244067
46	LYL1_20887958_ChIP-Seq_HPC-7_Mouse	1.20362835
47	IRF8_21731497_ChIP-ChIP_J774_Mouse	1.19279316
48	SALL4_22934838_ChIP-ChIP_CD34+_Human	1.18367275
49	GATA3_26560356_Chip-Seq_TH1_Human	1.17536029
50	NANOG_20526341_ChIP-Seq_ESCs_Human	1.17083359
51	TP53_22573176_ChIP-Seq_HFKS_Human	1.16656284
52	MYB_21317192_ChIP-Seq_ERMYB_Mouse	1.15564960
53	EZH2_27294783_Chip-Seq_NPCs_Mouse	1.14711267
54	* FOXH1_21741376_ChIP-Seq_EPCs_Human	1.14307857
55	THAP11_20581084_ChIP-Seq_MESCs_Mouse	1.12822962
56	POU3F2_20337985_ChIP-ChIP_501MEL_Human	1.08014348
57	* SOX2_19829295_ChIP-Seq_ESCs_Human	1.07900318
58	* NANOG_19829295_ChIP-Seq_ESCs_Human	1.07900318
59	* AR_20517297_ChIP-Seq_VCAP_Human	1.03013732
60	CBP_21632823_ChIP-Seq_H3396_Human	1.02575197
61	IRF8_22096565_ChIP-ChIP_GC-B_Mouse	1.00605110
62	RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse	1.00563413
63	PRDM5_23873026_ChIP-Seq_MEFs_Mouse	0.99987556
64	CRX_20693478_ChIP-Seq_RETINA_Mouse	0.99167494
65	FOXP3_17237761_ChIP-ChIP_TREG_Mouse	0.98343752
66	* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human	0.97229255
67	SPI1_23547873_ChIP-Seq_NB4_Human	0.94391219
68	FOXM1_26456572_ChIP-Seq_MCF-7_Human	0.94068860
69	CDX2_22108803_ChIP-Seq_LS180_Human	0.93936438
70	IGF1R_20145208_ChIP-Seq_DFB_Human	0.93494045
71	STAT1_20625510_ChIP-Seq_HELA_Human	0.91883617
72	ERG_20517297_ChIP-Seq_VCAP_Human	0.90497310
73	PBX1_22567123_ChIP-ChIP_OVCAR3_Human	0.88859767
74	IRF8_27001747_Chip-Seq_BMDM_Mouse	0.88503849
75	SOX9_22984422_ChIP-ChIP_TESTIS_Rat	0.88353713
76	ERG_20887958_ChIP-Seq_HPC-7_Mouse	0.87943797
77	VDR_22108803_ChIP-Seq_LS180_Human	0.87638775
78	PADI4_21655091_ChIP-ChIP_MCF-7_Human	0.86656174
79	GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human	0.86453463
80	TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human	0.85570093
81	ELK1_19687146_ChIP-ChIP_HELA_Human	0.85443676
82	GATA1_19941827_ChIP-Seq_MEL86_Mouse	0.85399011
83	KLF2_18264089_ChIP-ChIP_MESCs_Mouse	0.84887218
84	KLF5_18264089_ChIP-ChIP_MESCs_Mouse	0.84887218
85	KLF4_18264089_ChIP-ChIP_MESCs_Mouse	0.84887218
86	ZFX_18555785_ChIP-Seq_MESCs_Mouse	0.84847822
87	SFPI1_20887958_ChIP-Seq_HPC-7_Mouse	0.83890235
88	CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse	0.82915279
89	ETS1_20019798_ChIP-Seq_JURKAT_Human	0.82527771
90	SUZ12_27294783_Chip-Seq_NPCs_Mouse	0.82350407
91	* CEBPA_26348894_ChIP-Seq_LIVER_Mouse	0.82149330
92	SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse	0.81957838
93	MEIS1_20887958_ChIP-Seq_HPC-7_Mouse	0.80840307
94	NOTCH1_21737748_ChIP-Seq_TLL_Human	0.80781806
95	PPARD_23208498_ChIP-Seq_MDA-MB-231_Human	0.80432405
96	PDX1_19855005_ChIP-ChIP_MIN6_Mouse	0.80218105
97	FOXA1_21572438_ChIP-Seq_LNCaP_Human	0.79686601
98	CHD1_19587682_ChIP-ChIP_MESCs_Mouse	0.79501134
99	KLF5_20875108_ChIP-Seq_MESCs_Mouse	0.79069744
100	CBP_20019798_ChIP-Seq_JUKART_Human	0.78873717

Predicted mouse phenotypes (MGI)

Rank	Gene Set	Z-score
1	MP0003646_muscle_fatigue	5.24373144
2	MP0000749_muscle_degeneration	4.97177531
3	MP0004145_abnormal_muscle_electrophysio	4.80077327
4	MP0000751_myopathy	4.17744450
5	MP0004036_abnormal_muscle_relaxation	4.08610900
6	MP0008877_abnormal_DNA_methylation	3.84607664
7	MP0004084_abnormal_cardiac_muscle	3.24767274
8	MP0002837_dystrophic_cardiac_calcinosis	3.23464790
9	MP0003718_maternal_effect	2.88353471
10	MP0005330_cardiomyopathy	2.85408152
11	MP0002269_muscular_atrophy	2.84510040
12	MP0002106_abnormal_muscle_physiology	2.80275923
13	MP0000747_muscle_weakness	2.76531142
14	MP0006036_abnormal_mitochondrial_physio	2.72639784
15	MP0004087_abnormal_muscle_fiber	2.65820569
16	MP0000759_abnormal_skeletal_muscle	2.60228770
17	MP0005369_muscle_phenotype	2.43562127
18	MP0003950_abnormal_plasma_membrane	2.39485564
19	MP0005451_abnormal_body_composition	2.39260191
20	MP0005620_abnormal_muscle_contractility	2.38860012
21	MP0004215_abnormal_myocardial_fiber	2.33996045
22	MP0002332_abnormal_exercise_endurance	2.31164736
23	MP0000750_abnormal_muscle_regeneration	2.12236514
24	MP0003806_abnormal_nucleotide_metabolis	2.11708360
25	MP0004233_abnormal_muscle_weight	2.06425491
26	MP0002972_abnormal_cardiac_muscle	2.05928927
27	MP0002127_abnormal_cardiovascular_syste	1.64856089
28	MP0000013_abnormal_adipose_tissue	1.62972365
29	MP0002108_abnormal_muscle_morphology	1.60332311
30	MP0001929_abnormal_gametogenesis	1.58909839
31	MP0002210_abnormal_sex_determination	1.58527239
32	MP0004484_altered_response_of	1.58089892
33	MP0001544_abnormal_cardiovascular_syste	1.46740989
34	MP0005385_cardiovascular_system_phenoty	1.46740989
35	MP0005266_abnormal_metabolism	1.39786164
36	MP0009780_abnormal_chondrocyte_physiolo	1.38160214
37	MP0000733_abnormal_muscle_development	1.24093608
38	MP0000372_irregular_coat_pigmentation	1.17282322
39	MP0005058_abnormal_lysosome_morphology	1.16472175
40	MP0008775_abnormal_heart_ventricle	1.15689821
41	MP0004130_abnormal_muscle_cell	1.14683462
42	MP0010630_abnormal_cardiac_muscle	1.14148719
43	MP0005395_other_phenotype	1.13516655
44	MP0000653_abnormal_sex_gland	1.13036474
45	MP0005319_abnormal_enzyme/_coenzyme	1.12069019
46	MP0003941_abnormal_skin_development	1.09869977
47	MP0008058_abnormal_DNA_repair	1.09861090
48	MP0006138_congestive_heart_failure	1.07812516
49	MP0003186_abnormal_redox_activity	1.07762997
50	MP0005410_abnormal_fertilization	1.06393898
51	MP0003828_pulmonary_edema	1.02967422
52	MP0001145_abnormal_male_reproductive	1.00951828
53	MP0010234_abnormal_vibrissa_follicle	1.00903665
54	MP0002160_abnormal_reproductive_system	0.98000780
55	MP0008789_abnormal_olfactory_epithelium	0.97442869
56	MP0005075_abnormal_melanosome_morpholog	0.96781876
57	MP0001661_extended_life_span	0.95057613
58	MP0003879_abnormal_hair_cell	0.92897773
59	MP0006035_abnormal_mitochondrial_morpho	0.92628133
60	MP0003221_abnormal_cardiomyocyte_apopto	0.87362816
61	MP0009785_altered_susceptibility_to	0.86385771
62	MP0003699_abnormal_female_reproductive	0.86043151
63	MP0010368_abnormal_lymphatic_system	0.84806929
64	MP0003698_abnormal_male_reproductive	0.84264966
65	MP0001986_abnormal_taste_sensitivity	0.83914563
66	MP0009840_abnormal_foam_cell	0.80027509
67	MP0003137_abnormal_impulse_conducting	0.79684318
68	MP0005389_reproductive_system_phenotype	0.74187968
69	MP0000343_altered_response_to	0.70661721
70	MP0000003_abnormal_adipose_tissue	0.69167978
71	MP0010307_abnormal_tumor_latency	0.68079341
72	MP0004085_abnormal_heartbeat	0.68027024
73	MP0002161_abnormal_fertility/fecundity	0.67678396
74	MP0004510_myositis	0.67614665
75	MP0001119_abnormal_female_reproductive	0.67392151
76	MP0001835_abnormal_antigen_presentation	0.66098592
77	MP0002971_abnormal_brown_adipose	0.64905686
78	MP0002876_abnormal_thyroid_physiology	0.62762824
79	MP0002090_abnormal_vision	0.61131430
80	MP0005332_abnormal_amino_acid	0.59999827
81	MP0005174_abnormal_tail_pigmentation	0.59801201
82	MP0002078_abnormal_glucose_homeostasis	0.58575561
83	MP0001984_abnormal_olfaction	0.57368896
84	MP0004142_abnormal_muscle_tone	0.57323905
85	MP0002139_abnormal_hepatobiliary_system	0.56926549
86	MP0006082_CNS_inflammation	0.56870277
87	MP0000685_abnormal_immune_system	0.55950992
88	MP0005376_homeostasis/metabolism_phenot	0.55519787
89	MP0000015_abnormal_ear_pigmentation	0.55450249
90	MP0010094_abnormal_chromosome_stability	0.52750339
91	MP0002419_abnormal_innate_immunity	0.49891213
92	MP0003195_calcinosis	0.49603550
93	MP0003183_abnormal_peptide_metabolism	0.49011146
94	MP0002138_abnormal_hepatobiliary_system	0.47820979
95	MP0002693_abnormal_pancreas_physiology	0.47049964
96	MP0005166_decreased_susceptibility_to	0.46994159
97	MP0003786_premature_aging	0.43765387
98	MP0002148_abnormal_hypersensitivity_rea	0.43384812
99	MP0000358_abnormal_cell_content/	0.43224892
100	MP0003656_abnormal_erythrocyte_physiolo	0.42792304

Predicted human phenotypes

Rank	Gene Set	Z-score
1	Muscle fiber inclusion bodies (HP:0100299)	9.25167011
2	Nemaline bodies (HP:0003798)	9.23460529
3	Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)	8.97714713
4	Type 1 muscle fiber predominance (HP:0003803)	6.62598848
5	Exercise-induced myalgia (HP:0003738)	6.26696486
6	Exercise-induced muscle cramps (HP:0003710)	5.93106324
7	Muscle hypertrophy of the lower extremities (HP:0008968)	4.82996908
8	Muscle fiber splitting (HP:0003555)	4.82620195
9	Rhabdomyolysis (HP:0003201)	4.66062154
10	Distal arthrogryposis (HP:0005684)	4.64123802
11	EMG: myopathic abnormalities (HP:0003458)	4.61817467
12	Myoglobinuria (HP:0002913)	4.40776311
13	Calf muscle hypertrophy (HP:0008981)	4.36807144
14	Hyporeflexia of lower limbs (HP:0002600)	4.11450207
15	Myopathic facies (HP:0002058)	4.02006105
16	Ulnar deviation of the wrist (HP:0003049)	3.90579216
17	Abnormality of the calf musculature (HP:0001430)	3.88826239
18	Neck muscle weakness (HP:0000467)	3.85072480
19	Abnormality of skeletal muscle fiber size (HP:0012084)	3.73815422
20	Centrally nucleated skeletal muscle fibers (HP:0003687)	3.69009812
21	Rimmed vacuoles (HP:0003805)	3.59150701
22	Muscle stiffness (HP:0003552)	3.51335255
23	Round ear (HP:0100830)	3.38319359
24	Subaortic stenosis (HP:0001682)	3.30680712
25	Abnormality of the left ventricular outflow tract (HP:0011103)	3.30680712
26	Sudden death (HP:0001699)	3.19660147
27	Asymmetric septal hypertrophy (HP:0001670)	3.18141867
28	Increased connective tissue (HP:0009025)	3.08256959
29	Absent phalangeal crease (HP:0006109)	3.05338760
30	Increased variability in muscle fiber diameter (HP:0003557)	3.05265579
31	Distal lower limb muscle weakness (HP:0009053)	3.03189474
32	Areflexia of lower limbs (HP:0002522)	2.90956728
33	Difficulty running (HP:0009046)	2.84380570
34	* Bundle branch block (HP:0011710)	2.67588352
35	Ventricular tachycardia (HP:0004756)	2.58433056
36	Dilated cardiomyopathy (HP:0001644)	2.56936228
37	Gonadotropin excess (HP:0000837)	2.54193215
38	Frequent falls (HP:0002359)	2.53658290
39	Abnormal finger flexion creases (HP:0006143)	2.44739724
40	Myotonia (HP:0002486)	2.39604349
41	EMG: neuropathic changes (HP:0003445)	2.37189674
42	Weak cry (HP:0001612)	2.35029889
43	Ragged-red muscle fibers (HP:0003200)	2.32020824
44	Calcaneovalgus deformity (HP:0001848)	2.31806501
45	Malignant hyperthermia (HP:0002047)	2.30992724
46	Hypoglycemic coma (HP:0001325)	2.23779106
47	Generalized muscle weakness (HP:0003324)	2.17039190
48	Slender build (HP:0001533)	2.16898898
49	Palpitations (HP:0001962)	2.15140582
50	Bulbar palsy (HP:0001283)	2.12187148
51	Hepatic necrosis (HP:0002605)	2.10983180
52	Lipoatrophy (HP:0100578)	2.09633014
53	Progressive muscle weakness (HP:0003323)	2.06750158
54	Deformed tarsal bones (HP:0008119)	2.01951810
55	Hyperinsulinemic hypoglycemia (HP:0000825)	2.01762541
56	Hip contracture (HP:0003273)	2.01665932
57	Exercise intolerance (HP:0003546)	2.01511949
58	Facial diplegia (HP:0001349)	1.98993347
59	Hyperkalemia (HP:0002153)	1.95149513
60	Gowers sign (HP:0003391)	1.92641515
61	Muscular dystrophy (HP:0003560)	1.91602395
62	Increased intramyocellular lipid droplets (HP:0012240)	1.89539727
63	Insulin-resistant diabetes mellitus (HP:0000831)	1.88286053
64	Spinal rigidity (HP:0003306)	1.86923689
65	Respiratory insufficiency due to muscle weakness (HP:0002747)	1.85907086
66	Mildly elevated creatine phosphokinase (HP:0008180)	1.84881355
67	Hypokinesia (HP:0002375)	1.80299603
68	Loss of speech (HP:0002371)	1.79357690
69	* Ventricular arrhythmia (HP:0004308)	1.71092271
70	Abnormal activity of mitochondrial respiratory chain (HP:0011922)	1.69524063
71	Decreased activity of mitochondrial respiratory chain (HP:0008972)	1.69524063
72	Hypoplasia of the fovea (HP:0007750)	1.68400752
73	Aplasia/Hypoplasia of the fovea (HP:0008060)	1.68400752
74	Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)	1.68199658
75	Dicarboxylic aciduria (HP:0003215)	1.67601876
76	Abnormality of dicarboxylic acid metabolism (HP:0010995)	1.67601876
77	Difficulty climbing stairs (HP:0003551)	1.66918643
78	Azoospermia (HP:0000027)	1.66848740
79	Increased muscle lipid content (HP:0009058)	1.64937675
80	Generalized aminoaciduria (HP:0002909)	1.64503046
81	Proximal tubulopathy (HP:0000114)	1.64460388
82	Abnormality of fatty-acid metabolism (HP:0004359)	1.64251212
83	Cholecystitis (HP:0001082)	1.62804421
84	Abnormal gallbladder physiology (HP:0012438)	1.62804421
85	Posterior subcapsular cataract (HP:0007787)	1.61755066
86	Fetal akinesia sequence (HP:0001989)	1.61719056
87	Type 2 muscle fiber atrophy (HP:0003554)	1.60014269
88	Abnormality of the shoulder girdle musculature (HP:0001435)	1.58553361
89	Ventricular fibrillation (HP:0001663)	1.57114639
90	Malnutrition (HP:0004395)	1.56142660
91	Hepatocellular necrosis (HP:0001404)	1.54317969
92	Limb-girdle muscle atrophy (HP:0003797)	1.54109371
93	Progressive external ophthalmoplegia (HP:0000590)	1.54013262
94	Abnormality of the fovea (HP:0000493)	1.53724572
95	Increased CSF lactate (HP:0002490)	1.52361695
96	Acute necrotizing encephalopathy (HP:0006965)	1.52289640
97	Syncope (HP:0001279)	1.52103376
98	Abnormality of the neuromuscular junction (HP:0003398)	1.50780855
99	Fatigable weakness (HP:0003473)	1.50780855
100	Waddling gait (HP:0002515)	1.49532941

Predicted kinase interactions (KEA)

Rank	Gene Set	Z-score
1	OBSCN	7.88975245
2	PHKG1	4.11169539
3	PHKG2	4.11169539
4	TTN	4.00055241
5	PIK3CG	3.34501530
6	CDK19	2.53311202
7	MAP3K13	2.47382016
8	MAP2K3	2.31174526
9	ARAF	2.10206855
10	PDK2	2.03461883
11	PINK1	1.87952063
12	TRPM7	1.80422596
13	MOS	1.78447344
14	EIF2AK3	1.76143862
15	MYLK	1.72492259
16	LIMK1	1.70760729
17	MAP3K12	1.61644842
18	MAPKAPK3	1.58050597
19	STK24	1.53045995
20	NEK1	1.39551670
21	MAP3K9	1.30637099
22	STK16	1.26727958
23	MST4	1.18519977
24	TRIM28	1.13103751
25	BRAF	1.12816457
26	ACVR1B	1.11858093
27	NEK9	1.11517600
28	OXSR1	1.06656788
29	MUSK	1.05729164
30	TESK1	1.05726978
31	BMPR1B	0.96360748
32	TAOK3	0.96022135
33	PIK3CA	0.95814483
34	NEK6	0.92342955
35	DMPK	0.89326425
36	KSR2	0.89304682
37	MAPK12	0.86704461
38	MAP2K6	0.85325886
39	MAP3K7	0.82528829
40	TTK	0.82228984
41	TYK2	0.80714934
42	MAP3K5	0.79401808
43	FRK	0.71395473
44	ZAP70	0.70131072
45	RAF1	0.68642385
46	GRK7	0.67880720
47	TNK2	0.67691882
48	GRK1	0.65557535
49	TBK1	0.63777200
50	CAMK2G	0.63567598
51	TIE1	0.63320724
52	CAMK2D	0.63197904
53	MET	0.61734195
54	STK3	0.61658751
55	CSF1R	0.58294444
56	MARK3	0.57713189
57	BCKDK	0.56788349
58	PRKG1	0.56756005
59	STK39	0.55742280
60	PTK2B	0.52886502
61	MAP3K3	0.52639250
62	PNCK	0.52597255
63	RPS6KB2	0.52074941
64	PDK1	0.51248175
65	ROCK1	0.51202035
66	ILK	0.50233816
67	AKT2	0.48836721
68	TGFBR1	0.47710453
69	ERBB3	0.46724190
70	TESK2	0.46608689
71	SCYL2	0.46581899
72	TGFBR2	0.45528830
73	PDPK1	0.45269202
74	PRKAA2	0.45152496
75	KSR1	0.43322425
76	MAP4K2	0.41369791
77	STK38L	0.40607052
78	PLK1	0.39441879
79	LRRK2	0.37837733
80	ZAK	0.36647490
81	KIT	0.36574661
82	MAP2K1	0.36048069
83	PRKCI	0.35270530
84	CDK9	0.35123429
85	MAP2K4	0.34934996
86	PTK2	0.32733798
87	PRKAA1	0.32623118
88	PRKD1	0.32240940
89	MAP3K1	0.31752961
90	CAMK2A	0.31673465
91	PRKACB	0.31547007
92	PAK1	0.30201628
93	AURKA	0.30082894
94	CAMK1	0.29760019
95	MAPK11	0.28647766
96	RPS6KB1	0.23878006
97	NUAK1	0.22857882
98	EPHB1	0.22699947
99	BMPR2	0.22233073
100	CDK8	0.21616663

Predicted pathways (KEGG)

Rank	Gene Set	Z-score
1	Citrate cycle (TCA cycle)_Homo sapiens_hsa00020	4.25502877
2	2-Oxocarboxylic acid metabolism_Homo sapiens_hsa01210	3.05211960
3	Cardiac muscle contraction_Homo sapiens_hsa04260	3.03313676
4	Fatty acid elongation_Homo sapiens_hsa00062	2.76983007
5	Circadian rhythm_Homo sapiens_hsa04710	2.65375246
6	Proteasome_Homo sapiens_hsa03050	2.63098012
7	Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa05410	2.59956648
8	Propanoate metabolism_Homo sapiens_hsa00640	2.45597508
9	Parkinsons disease_Homo sapiens_hsa05012	2.39330028
10	Pentose phosphate pathway_Homo sapiens_hsa00030	2.38110662
11	Oxidative phosphorylation_Homo sapiens_hsa00190	2.34245552
12	Dilated cardiomyopathy_Homo sapiens_hsa05414	2.14681082
13	Basal transcription factors_Homo sapiens_hsa03022	2.09809668
14	Carbon metabolism_Homo sapiens_hsa01200	2.02149632
15	Regulation of autophagy_Homo sapiens_hsa04140	1.87858402
16	Oocyte meiosis_Homo sapiens_hsa04114	1.72428325
17	SNARE interactions in vesicular transport_Homo sapiens_hsa04130	1.72014768
18	Valine, leucine and isoleucine degradation_Homo sapiens_hsa00280	1.64991379
19	Mismatch repair_Homo sapiens_hsa03430	1.55869251
20	RNA degradation_Homo sapiens_hsa03018	1.51796296
21	Nucleotide excision repair_Homo sapiens_hsa03420	1.44697009
22	Alzheimers disease_Homo sapiens_hsa05010	1.41891728
23	Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa00400	1.40720248
24	Homologous recombination_Homo sapiens_hsa03440	1.39618305
25	Pyruvate metabolism_Homo sapiens_hsa00620	1.34649943
26	Folate biosynthesis_Homo sapiens_hsa00790	1.30228287
27	Nicotinate and nicotinamide metabolism_Homo sapiens_hsa00760	1.28186278
28	Protein export_Homo sapiens_hsa03060	1.26929064
29	Huntingtons disease_Homo sapiens_hsa05016	1.23005077
30	Glycolysis / Gluconeogenesis_Homo sapiens_hsa00010	1.22931256
31	Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932	1.16859830
32	Glycosaminoglycan degradation_Homo sapiens_hsa00531	1.15765996
33	Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa05412	1.15669869
34	Glucagon signaling pathway_Homo sapiens_hsa04922	1.14151260
35	Legionellosis_Homo sapiens_hsa05134	1.14043895
36	Ovarian steroidogenesis_Homo sapiens_hsa04913	1.12140248
37	Base excision repair_Homo sapiens_hsa03410	1.08146804
38	Calcium signaling pathway_Homo sapiens_hsa04020	1.07702899
39	cGMP-PKG signaling pathway_Homo sapiens_hsa04022	1.06664945
40	Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa00630	1.04734099
41	Cysteine and methionine metabolism_Homo sapiens_hsa00270	1.04307820
42	Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa00533	1.03707279
43	Ubiquitin mediated proteolysis_Homo sapiens_hsa04120	1.03206655
44	Sulfur metabolism_Homo sapiens_hsa00920	1.00907204
45	Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa04261	0.97724467
46	Progesterone-mediated oocyte maturation_Homo sapiens_hsa04914	0.95992945
47	Viral myocarditis_Homo sapiens_hsa05416	0.95287780
48	Maturity onset diabetes of the young_Homo sapiens_hsa04950	0.95265571
49	DNA replication_Homo sapiens_hsa03030	0.94360255
50	Collecting duct acid secretion_Homo sapiens_hsa04966	0.94129508
51	RNA transport_Homo sapiens_hsa03013	0.91633456
52	Purine metabolism_Homo sapiens_hsa00230	0.90536446
53	Other glycan degradation_Homo sapiens_hsa00511	0.88149770
54	Cell cycle_Homo sapiens_hsa04110	0.87502208
55	Arginine and proline metabolism_Homo sapiens_hsa00330	0.86608994
56	Galactose metabolism_Homo sapiens_hsa00052	0.85397543
57	Insulin signaling pathway_Homo sapiens_hsa04910	0.85200024
58	Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520	0.84687822
59	Ribosome biogenesis in eukaryotes_Homo sapiens_hsa03008	0.84594832
60	Oxytocin signaling pathway_Homo sapiens_hsa04921	0.83935030
61	Dorso-ventral axis formation_Homo sapiens_hsa04320	0.82431756
62	Pathogenic Escherichia coli infection_Homo sapiens_hsa05130	0.80018507
63	Asthma_Homo sapiens_hsa05310	0.79109344
64	Fructose and mannose metabolism_Homo sapiens_hsa00051	0.74860488
65	Lysosome_Homo sapiens_hsa04142	0.74679311
66	Phagosome_Homo sapiens_hsa04145	0.71927926
67	Glutathione metabolism_Homo sapiens_hsa00480	0.69689179
68	Fanconi anemia pathway_Homo sapiens_hsa03460	0.68607725
69	Type I diabetes mellitus_Homo sapiens_hsa04940	0.67919525
70	Fatty acid metabolism_Homo sapiens_hsa01212	0.66029277
71	Phototransduction_Homo sapiens_hsa04744	0.65906824
72	Inflammatory bowel disease (IBD)_Homo sapiens_hsa05321	0.61310805
73	Fatty acid degradation_Homo sapiens_hsa00071	0.61154305
74	Peroxisome_Homo sapiens_hsa04146	0.59108402
75	Insulin resistance_Homo sapiens_hsa04931	0.57869341
76	Non-homologous end-joining_Homo sapiens_hsa03450	0.54448845
77	Rheumatoid arthritis_Homo sapiens_hsa05323	0.54239992
78	Tuberculosis_Homo sapiens_hsa05152	0.49865248
79	mTOR signaling pathway_Homo sapiens_hsa04150	0.49272582
80	Glycine, serine and threonine metabolism_Homo sapiens_hsa00260	0.48269786
81	Leishmaniasis_Homo sapiens_hsa05140	0.47962594
82	Inositol phosphate metabolism_Homo sapiens_hsa00562	0.47230685
83	Vascular smooth muscle contraction_Homo sapiens_hsa04270	0.46958057
84	Antigen processing and presentation_Homo sapiens_hsa04612	0.46579310
85	p53 signaling pathway_Homo sapiens_hsa04115	0.45927691
86	Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa00563	0.42629183
87	Olfactory transduction_Homo sapiens_hsa04740	0.42010772
88	Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa00130	0.40623998
89	Metabolic pathways_Homo sapiens_hsa01100	0.37728359
90	Vibrio cholerae infection_Homo sapiens_hsa05110	0.37344336
91	Allograft rejection_Homo sapiens_hsa05330	0.37290681
92	Regulation of actin cytoskeleton_Homo sapiens_hsa04810	0.37256375
93	FoxO signaling pathway_Homo sapiens_hsa04068	0.32624954
94	Pyrimidine metabolism_Homo sapiens_hsa00240	0.32602834
95	RNA polymerase_Homo sapiens_hsa03020	0.32508651
96	Starch and sucrose metabolism_Homo sapiens_hsa00500	0.30556573
97	Butanoate metabolism_Homo sapiens_hsa00650	0.29292731
98	Biosynthesis of amino acids_Homo sapiens_hsa01230	0.28773218
99	Staphylococcus aureus infection_Homo sapiens_hsa05150	0.28285282
100	Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604	0.28187838

GYG1

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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