DES

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a muscle-specific class III intermediate filament. Homopolymers of this protein form a stable intracytoplasmic filamentous network connecting myofibrils to each other and to the plasma membrane. Mutations in this gene are associated with desmin-related myopathy, a familial cardiac and skeletal myopathy (CSM), and with distal myopathies. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* actin-myosin filament sliding (GO:0033275)9.30308833
2* muscle filament sliding (GO:0030049)9.30308833
3sarcomere organization (GO:0045214)8.91303135
4regulation of skeletal muscle contraction (GO:0014819)7.74056600
5* actin-mediated cell contraction (GO:0070252)7.69585236
6negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.63268113
7plasma membrane repair (GO:0001778)7.49794951
8cardiac myofibril assembly (GO:0055003)7.39297262
9myofibril assembly (GO:0030239)7.27676412
10negative regulation of potassium ion transmembrane transport (GO:1901380)6.67708952
11positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.38022294
12sarcoplasmic reticulum calcium ion transport (GO:0070296)6.19525228
13skeletal muscle contraction (GO:0003009)6.07904026
14cardiac muscle contraction (GO:0060048)5.98522027
15actomyosin structure organization (GO:0031032)5.88292261
16striated muscle contraction (GO:0006941)5.84596558
17* actin filament-based movement (GO:0030048)5.81999557
18cardiac muscle cell development (GO:0055013)5.78559667
19regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.70431836
20cardiac cell development (GO:0055006)5.43192236
21regulation of relaxation of muscle (GO:1901077)5.17406555
22regulation of actin filament-based movement (GO:1903115)5.16800557
23regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.15089533
24regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO5.15088530
25tricarboxylic acid cycle (GO:0006099)5.11407484
26regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.94367376
27ventricular cardiac muscle cell action potential (GO:0086005)4.94139456
28response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.93208901
29carnitine shuttle (GO:0006853)4.82861820
30bundle of His cell to Purkinje myocyte communication (GO:0086069)4.80320876
31cardiac muscle tissue morphogenesis (GO:0055008)4.77509033
32cardiac muscle hypertrophy (GO:0003300)4.70027678
33regulation of cell communication by electrical coupling (GO:0010649)4.68198669
34adult heart development (GO:0007512)4.63064667
35regulation of striated muscle contraction (GO:0006942)4.57460483
36muscle tissue morphogenesis (GO:0060415)4.56631214
37striated muscle hypertrophy (GO:0014897)4.53675821
38regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.51529304
39regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)4.49088325
40regulation of sarcomere organization (GO:0060297)4.46886479
41heart trabecula formation (GO:0060347)4.43766326
42* muscle contraction (GO:0006936)4.42602166
43ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.35540939
44skeletal muscle adaptation (GO:0043501)4.33186156
45myotube cell development (GO:0014904)4.27310082
46response to inactivity (GO:0014854)4.25545469
47creatine metabolic process (GO:0006600)4.22855721
48regulation of membrane repolarization (GO:0060306)4.13559254
49fatty acid transmembrane transport (GO:1902001)4.12718024
50regulation of acyl-CoA biosynthetic process (GO:0050812)4.06335700
51* muscle system process (GO:0003012)4.06188277
52striated muscle cell development (GO:0055002)4.01807576
53heart process (GO:0003015)4.00187369
54heart contraction (GO:0060047)4.00187369
55muscle hypertrophy (GO:0014896)3.98396906
56skeletal muscle tissue development (GO:0007519)3.93664219
57regulation of myoblast differentiation (GO:0045661)3.85792705
58striated muscle adaptation (GO:0014888)3.83253550
59striated muscle atrophy (GO:0014891)3.81288727
60negative regulation of protein localization to cell surface (GO:2000009)3.77468632
61muscle fiber development (GO:0048747)3.76224625
62regulation of the force of heart contraction (GO:0002026)3.73681669
63regulation of cofactor metabolic process (GO:0051193)3.70373308
64regulation of coenzyme metabolic process (GO:0051196)3.70373308
65cell communication involved in cardiac conduction (GO:0086065)3.67503970
66muscle organ development (GO:0007517)3.61649284
67positive regulation of myotube differentiation (GO:0010831)3.58027077
68muscle structure development (GO:0061061)3.57826581
69carnitine transmembrane transport (GO:1902603)3.57010269
70negative regulation of potassium ion transport (GO:0043267)3.56801928
71regulation of ATPase activity (GO:0043462)3.55638923
72regulation of ATP catabolic process (GO:1903289)3.55638923
73positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.51529179
74muscle cell development (GO:0055001)3.48656067
75negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.46795355
76regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.44937523
77cellular response to epinephrine stimulus (GO:0071872)3.44013865
78cardiac muscle cell action potential involved in contraction (GO:0086002)3.43082165
79skeletal muscle fiber development (GO:0048741)3.42666481
80regulation of cardioblast differentiation (GO:0051890)3.42278115
81cardiac muscle hypertrophy in response to stress (GO:0014898)3.41565029
82muscle hypertrophy in response to stress (GO:0003299)3.41565029
83cardiac muscle adaptation (GO:0014887)3.41565029
84cardiac muscle cell action potential (GO:0086001)3.40440022
85negative regulation of cardiac muscle tissue growth (GO:0055022)3.39297962
86negative regulation of heart growth (GO:0061117)3.39297962
87cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.37666490
88response to epinephrine (GO:0071871)3.37582516
89regulation of muscle contraction (GO:0006937)3.36243580
90membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.35809200
91response to muscle activity (GO:0014850)3.35419831
92regulation of heart rate (GO:0002027)3.30334614
93positive regulation of cation channel activity (GO:2001259)3.29978424
94positive regulation of myoblast differentiation (GO:0045663)3.28027546
95muscle cell cellular homeostasis (GO:0046716)3.27728674
96regulation of cardiac muscle contraction (GO:0055117)3.25826252
97glycogen biosynthetic process (GO:0005978)3.25602003
98glucan biosynthetic process (GO:0009250)3.25602003
99detection of calcium ion (GO:0005513)3.25370257
100response to caffeine (GO:0031000)3.25030584
101carnitine transport (GO:0015879)3.23903756
102amino-acid betaine transport (GO:0015838)3.23903756
103regulation of calcium ion transmembrane transport (GO:1903169)3.20664588
104regulation of calcium ion transmembrane transporter activity (GO:1901019)3.20664588
1052-oxoglutarate metabolic process (GO:0006103)3.19498165
106negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.18831450
107negative regulation of calcium ion transmembrane transport (GO:1903170)3.18831450
108cell communication by electrical coupling (GO:0010644)3.18529294
109pyrimidine ribonucleoside catabolic process (GO:0046133)3.18246620
110negative regulation of muscle hypertrophy (GO:0014741)3.18027801
111muscle adaptation (GO:0043500)3.18023374
112NADH metabolic process (GO:0006734)3.17987990
113muscle atrophy (GO:0014889)3.17535204
114muscle cell fate commitment (GO:0042693)3.17046491
115regulation of p38MAPK cascade (GO:1900744)3.16546296
116regulation of muscle system process (GO:0090257)3.14671292
117regulation of cardiac muscle cell contraction (GO:0086004)3.13981055
118glycogen catabolic process (GO:0005980)3.09101901
119regulation of sequestering of triglyceride (GO:0010889)3.04630325

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.51251733
2EP300_21415370_ChIP-Seq_HL-1_Mouse3.77468214
3RARG_19884340_ChIP-ChIP_MEFs_Mouse3.58144960
4TBX20_22328084_ChIP-Seq_HEART_Mouse3.48643315
5TBX20_22080862_ChIP-Seq_HEART_Mouse3.48643315
6ESR1_20079471_ChIP-ChIP_T-47D_Human3.30982188
7TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.23679765
8ZNF263_19887448_ChIP-Seq_K562_Human2.86599189
9* ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.82345286
10RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.65079767
11MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.62137319
12TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.40054616
13CLOCK_20551151_ChIP-Seq_293T_Human2.35749136
14ESR2_21235772_ChIP-Seq_MCF-7_Human2.33136409
15TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.27884076
16TRIM28_21343339_ChIP-Seq_HEK293_Human2.24955939
17CDX2_19796622_ChIP-Seq_MESCs_Mouse2.21883629
18THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.21277944
19BP1_19119308_ChIP-ChIP_Hs578T_Human2.20968112
20CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.08558721
21* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.93615378
22ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.85950433
23TP63_17297297_ChIP-ChIP_HaCaT_Human1.78673124
24ESR1_21235772_ChIP-Seq_MCF-7_Human1.78182313
25RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.75355112
26GATA4_21415370_ChIP-Seq_HL-1_Mouse1.74151890
27NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.69372313
28ELK3_25401928_ChIP-Seq_HUVEC_Human1.62290766
29ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.61645913
30NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.60553068
31ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.60445159
32KDM2B_26808549_Chip-Seq_SUP-B15_Human1.60175671
33RACK7_27058665_Chip-Seq_MCF-7_Human1.53699161
34TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.53125913
35CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.50935065
36NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.49325429
37PPAR_26484153_Chip-Seq_NCI-H1993_Human1.48183237
38LXR_22292898_ChIP-Seq_THP-1_Human1.45823269
39PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.43067302
40PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.39347687
41KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.38031587
42KDM2B_26808549_Chip-Seq_DND41_Human1.37683858
43ATF3_27146783_Chip-Seq_COLON_Human1.37515965
44PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.35592750
45BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.35419847
46TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.32637416
47GATA2_21666600_ChIP-Seq_HMVEC_Human1.32492813
48HIF1A_21447827_ChIP-Seq_MCF-7_Human1.32192972
49UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.31949200
50TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.31531952
51CTCF_27219007_Chip-Seq_Bcells_Human1.28305832
52STAT6_21828071_ChIP-Seq_BEAS2B_Human1.26802286
53PPARA_22158963_ChIP-Seq_LIVER_Mouse1.26387790
54GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22990230
55CJUN_26792858_Chip-Seq_BT549_Human1.21813831
56ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.21693894
57TP63_22573176_ChIP-Seq_HFKS_Human1.21243888
58NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.20976000
59RUNX1_27514584_Chip-Seq_MCF-7_Human1.20444847
60PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.19605797
61SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.16642515
62LXR_22158963_ChIP-Seq_LIVER_Mouse1.15773344
63SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.14769219
64* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.13888434
65SOX9_24532713_ChIP-Seq_HFSC_Mouse1.12630572
66* EZH2_27294783_Chip-Seq_ESCs_Mouse1.11281798
67EZH2_18974828_ChIP-Seq_MESCs_Mouse1.10610976
68RNF2_18974828_ChIP-Seq_MESCs_Mouse1.10610976
69SMC3_22415368_ChIP-Seq_MEFs_Mouse1.10317859
70P63_26484246_Chip-Seq_KERATINOCYTES_Human1.08541459
71* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.07292789
72SMC1_22415368_ChIP-Seq_MEFs_Mouse1.06994411
73* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.06273127
74P300_27058665_Chip-Seq_ZR-75-30cells_Human1.06243332
75GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.05954890
76VDR_22108803_ChIP-Seq_LS180_Human1.03999547
77GATA1_22025678_ChIP-Seq_K562_Human1.03843857
78STAT3_1855785_ChIP-Seq_MESCs_Mouse1.02816541
79KDM2B_26808549_Chip-Seq_K562_Human1.02264628
80* WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.01794048
81GATA1_19941826_ChIP-Seq_K562_Human1.00514723
82DROSHA_22980978_ChIP-Seq_HELA_Human1.00104827
83FOXO3_23340844_ChIP-Seq_DLD1_Human0.98274991
84MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.98033579
85ISL1_27105846_Chip-Seq_CPCs_Mouse0.97577318
86WT1_19549856_ChIP-ChIP_CCG9911_Human0.96980762
87GBX2_23144817_ChIP-Seq_PC3_Human0.96760869
88NR3C1_23031785_ChIP-Seq_PC12_Mouse0.96463207
89EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.96431929
90EZH2_22144423_ChIP-Seq_EOC_Human0.95695582
91* SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.94794405
92KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.94635599
93RXR_22158963_ChIP-Seq_LIVER_Mouse0.93389643
94CTCF_21964334_Chip-Seq_Bcells_Human0.93291664
95EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.92870166
96E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.91710582
97NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.91329131
98NRF2_20460467_ChIP-Seq_MEFs_Mouse0.91329131
99CTCF_21964334_ChIP-Seq_BJAB-B_Human0.91137187
100LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.90906867
101CREB1_26743006_Chip-Seq_LNCaP_Human0.90735348
102P68_20966046_ChIP-Seq_HELA_Human0.90674246
103CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.90316307
104NFIB_24661679_ChIP-Seq_LUNG_Mouse0.90190125
105PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.87578973
106IGF1R_20145208_ChIP-Seq_DFB_Human0.87397011
107GATA1_19941827_ChIP-Seq_MEL_Mouse0.86591530
108SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.85681109
109JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.85676245
110* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.85529755
111* GATA1_19941827_ChIP-Seq_MEL86_Mouse0.85261056
112UBF1/2_26484160_Chip-Seq_HMECs_Human0.85048424
113CTNNB1_20460455_ChIP-Seq_HCT116_Human0.84966365
114* SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.84908615
115JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.84569926
116EZH2_27304074_Chip-Seq_ESCs_Mouse0.83958055
117TP53_23651856_ChIP-Seq_MEFs_Mouse0.83625787
118PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.83325872
119FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.83220579
120FOXH1_21741376_ChIP-Seq_ESCs_Human0.82755815
121SPI1_20517297_ChIP-Seq_HL60_Human0.82609625
122ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.81785899
123SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.81636236
124SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.81636236
125BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.81635802
126BCL6_27268052_Chip-Seq_Bcells_Human0.81518815
127TCF7_22412390_ChIP-Seq_EML_Mouse0.81382571
128KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.81282462
129ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.80991419
130JARID2_20075857_ChIP-Seq_MESCs_Mouse0.80370122
131STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.79495069
132* SOX2_21211035_ChIP-Seq_LN229_Gbm0.79006391
133SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78428969
134SMAD3_21741376_ChIP-Seq_HESCs_Human0.76638132
135FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.76370275
136RAD21_21589869_ChIP-Seq_MESCs_Mouse0.76045282
137* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.75980295
138MYC_27129775_Chip-Seq_CORNEA_Mouse0.74717073
139RARB_27405468_Chip-Seq_BRAIN_Mouse0.73891829
140SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.73039015
141TP53_20018659_ChIP-ChIP_R1E_Mouse0.72433319
142GF1_26923725_Chip-Seq_HPCs_Mouse0.72175772

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000751_myopathy5.97526990
2MP0003646_muscle_fatigue5.25701241
3* MP0002837_dystrophic_cardiac_calcinosis5.01229253
4* MP0000749_muscle_degeneration4.63529567
5* MP0004084_abnormal_cardiac_muscle4.42331866
6* MP0004036_abnormal_muscle_relaxation3.97722389
7* MP0004215_abnormal_myocardial_fiber3.65529429
8MP0004145_abnormal_muscle_electrophysio3.64531097
9MP0000750_abnormal_muscle_regeneration3.51114507
10* MP0004087_abnormal_muscle_fiber3.46595356
11* MP0005330_cardiomyopathy3.42478996
12MP0002106_abnormal_muscle_physiology3.25147945
13MP0000747_muscle_weakness2.92288098
14* MP0005620_abnormal_muscle_contractility2.86415478
15* MP0002972_abnormal_cardiac_muscle2.69692278
16MP0005369_muscle_phenotype2.68415224
17* MP0000759_abnormal_skeletal_muscle2.65841994
18* MP0002269_muscular_atrophy2.63676568
19MP0004130_abnormal_muscle_cell2.49977674
20MP0008775_abnormal_heart_ventricle2.43207061
21* MP0010630_abnormal_cardiac_muscle2.35944404
22MP0003137_abnormal_impulse_conducting2.29973329
23MP0004484_altered_response_of2.21755539
24* MP0005385_cardiovascular_system_phenoty2.18625346
25* MP0001544_abnormal_cardiovascular_syste2.18625346
26MP0004233_abnormal_muscle_weight2.06020059
27MP0003950_abnormal_plasma_membrane1.87179487
28MP0008438_abnormal_cutaneous_collagen1.79021401
29MP0003828_pulmonary_edema1.77575705
30MP0000733_abnormal_muscle_development1.73894299
31* MP0006138_congestive_heart_failure1.70219175
32MP0004085_abnormal_heartbeat1.64134182
33MP0003221_abnormal_cardiomyocyte_apopto1.62562760
34MP0004510_myositis1.61318767
35MP0003705_abnormal_hypodermis_morpholog1.48233843
36MP0002108_abnormal_muscle_morphology1.45972924
37MP0005666_abnormal_adipose_tissue1.45204374
38MP0002332_abnormal_exercise_endurance1.43853379
39MP0006036_abnormal_mitochondrial_physio1.42941610
40MP0005275_abnormal_skin_tensile1.39022014
41MP0002234_abnormal_pharynx_morphology1.33397003
42MP0003279_aneurysm1.33188865
43MP0002127_abnormal_cardiovascular_syste1.32788018
44MP0004185_abnormal_adipocyte_glucose1.29849089
45MP0003567_abnormal_fetal_cardiomyocyte1.25672631
46MP0005670_abnormal_white_adipose1.15090256
47MP0003566_abnormal_cell_adhesion1.14170928
48MP0005375_adipose_tissue_phenotype1.11717725
49MP0000343_altered_response_to1.11201998
50MP0004270_analgesia1.09668550
51MP0001661_extended_life_span1.08607041
52* MP0000266_abnormal_heart_morphology1.05992518
53MP0000013_abnormal_adipose_tissue1.05858536
54MP0005623_abnormal_meninges_morphology1.05268455
55MP0010368_abnormal_lymphatic_system1.04713313
56MP0004272_abnormal_basement_membrane0.95200454
57MP0005165_increased_susceptibility_to0.91348577
58MP0002971_abnormal_brown_adipose0.87600965
59MP0001879_abnormal_lymphatic_vessel0.79828510
60MP0000003_abnormal_adipose_tissue0.79634200
61* MP0002128_abnormal_blood_circulation0.77216846
62MP0001958_emphysema0.75088687
63MP0000230_abnormal_systemic_arterial0.73499413
64MP0005503_abnormal_tendon_morphology0.72404035
65* MP0000767_abnormal_smooth_muscle0.67890174
66MP0006035_abnormal_mitochondrial_morpho0.65585391
67MP0009840_abnormal_foam_cell0.54182122
68MP0002925_abnormal_cardiovascular_devel0.52936894
69MP0002909_abnormal_adrenal_gland0.51898025
70* MP0005266_abnormal_metabolism0.51428221
71MP0005319_abnormal_enzyme/_coenzyme0.48028184
72MP0001299_abnormal_eye_distance/0.48001209
73MP0006054_spinal_hemorrhage0.46539722
74MP0003045_fibrosis0.46234441
75MP0009384_cardiac_valve_regurgitation0.44695766
76* MP0001614_abnormal_blood_vessel0.44631329
77MP0003879_abnormal_hair_cell0.44420486
78MP0008961_abnormal_basal_metabolism0.43168979
79MP0005451_abnormal_body_composition0.41829857
80MP0003806_abnormal_nucleotide_metabolis0.41366562
81MP0002877_abnormal_melanocyte_morpholog0.40897412
82MP0004147_increased_porphyrin_level0.39887607
83MP0001784_abnormal_fluid_regulation0.39538228
84MP0010030_abnormal_orbit_morphology0.38877903
85MP0000762_abnormal_tongue_morphology0.37309734
86MP0003948_abnormal_gas_homeostasis0.37025996
87MP0005167_abnormal_blood-brain_barrier0.36702662
88MP0002078_abnormal_glucose_homeostasis0.35859786
89MP0002896_abnormal_bone_mineralization0.35856107
90MP0004043_abnormal_pH_regulation0.35717815
91MP0003091_abnormal_cell_migration0.34100909
92MP0003941_abnormal_skin_development0.32770322
93MP0003385_abnormal_body_wall0.32687684
94MP0008569_lethality_at_weaning0.32558301
95MP0005166_decreased_susceptibility_to0.32455722
96MP0005187_abnormal_penis_morphology0.31731554
97MP0000249_abnormal_blood_vessel0.30488090
98MP0002060_abnormal_skin_morphology0.29422809
99MP0005334_abnormal_fat_pad0.27101646
100MP0009250_abnormal_appendicular_skeleto0.26873862
101MP0009780_abnormal_chondrocyte_physiolo0.26811203
102MP0002114_abnormal_axial_skeleton0.26615169
103MP0009115_abnormal_fat_cell0.26514850
104MP0000579_abnormal_nail_morphology0.25799543
105MP0001765_abnormal_ion_homeostasis0.25699575
106MP0002796_impaired_skin_barrier0.25382373
107MP0008004_abnormal_stomach_pH0.24605111
108MP0003984_embryonic_growth_retardation0.24548596
109MP0005595_abnormal_vascular_smooth0.24258864
110MP0002249_abnormal_larynx_morphology0.22776856
111* MP0005376_homeostasis/metabolism_phenot0.21516603
112MP0005535_abnormal_body_temperature0.20063686
113MP0005584_abnormal_enzyme/coenzyme_acti0.19695908
114MP0001943_abnormal_respiration0.19467442
115MP0005452_abnormal_adipose_tissue0.18502715

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)6.46902144
2Exercise-induced myalgia (HP:0003738)6.44495108
3Calf muscle hypertrophy (HP:0008981)6.32541577
4Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)6.22693373
5Muscle fiber inclusion bodies (HP:0100299)6.18959721
6Muscle fiber splitting (HP:0003555)6.11112960
7Exercise-induced muscle cramps (HP:0003710)6.10312414
8Muscle hypertrophy of the lower extremities (HP:0008968)6.02573141
9Type 1 muscle fiber predominance (HP:0003803)5.99028223
10Nemaline bodies (HP:0003798)5.59265278
11Ventricular tachycardia (HP:0004756)5.14918168
12* Abnormality of the calf musculature (HP:0001430)4.92339116
13Increased connective tissue (HP:0009025)4.76513941
14* Hyporeflexia of lower limbs (HP:0002600)4.75148873
15Difficulty running (HP:0009046)4.53453557
16Distal arthrogryposis (HP:0005684)4.51312500
17Subaortic stenosis (HP:0001682)4.50602080
18Abnormality of the left ventricular outflow tract (HP:0011103)4.50602080
19* EMG: myopathic abnormalities (HP:0003458)4.44667462
20Myoglobinuria (HP:0002913)4.44461364
21Atrial fibrillation (HP:0005110)4.20310161
22Round ear (HP:0100830)4.13454021
23* Lipoatrophy (HP:0100578)4.03009681
24Primary atrial arrhythmia (HP:0001692)3.91765027
25Myopathic facies (HP:0002058)3.89042644
26Difficulty climbing stairs (HP:0003551)3.83583240
27Asymmetric septal hypertrophy (HP:0001670)3.80088548
28Supraventricular tachycardia (HP:0004755)3.77426097
29Abnormality of skeletal muscle fiber size (HP:0012084)3.72880875
30Supraventricular arrhythmia (HP:0005115)3.72749595
31Myotonia (HP:0002486)3.65779408
32Increased variability in muscle fiber diameter (HP:0003557)3.57541689
33Ulnar deviation of the wrist (HP:0003049)3.56954160
34Rhabdomyolysis (HP:0003201)3.48169414
35* Dilated cardiomyopathy (HP:0001644)3.37670452
36Bundle branch block (HP:0011710)3.31884560
37Mildly elevated creatine phosphokinase (HP:0008180)3.28643352
38Syncope (HP:0001279)3.24209803
39* Right ventricular cardiomyopathy (HP:0011663)3.20885732
40Palpitations (HP:0001962)3.17933786
41Prolonged QT interval (HP:0001657)3.10929837
42Ventricular arrhythmia (HP:0004308)3.01780952
43* Neck muscle weakness (HP:0000467)2.94857691
44Distal lower limb muscle weakness (HP:0009053)2.94089127
45Gowers sign (HP:0003391)2.92097775
46Muscle stiffness (HP:0003552)2.91412495
47Calcaneovalgus deformity (HP:0001848)2.83042410
48Heart block (HP:0012722)2.81613004
49Abnormal atrioventricular conduction (HP:0005150)2.76502085
50Atrioventricular block (HP:0001678)2.75564298
51Malignant hyperthermia (HP:0002047)2.75199920
52Facial diplegia (HP:0001349)2.74959267
53Fatigable weakness (HP:0003473)2.72542010
54Abnormality of the neuromuscular junction (HP:0003398)2.72542010
55Areflexia of lower limbs (HP:0002522)2.65697046
56Distal lower limb amyotrophy (HP:0008944)2.65221325
57Deformed tarsal bones (HP:0008119)2.59884563
58Generalized muscle weakness (HP:0003324)2.59865447
59Fetal akinesia sequence (HP:0001989)2.54738019
60Absent phalangeal crease (HP:0006109)2.54312537
61Frequent falls (HP:0002359)2.52489737
62Ventricular fibrillation (HP:0001663)2.52139202
63EMG: neuropathic changes (HP:0003445)2.51673191
64Centrally nucleated skeletal muscle fibers (HP:0003687)2.49993176
65Spinal rigidity (HP:0003306)2.49321436
66Weak cry (HP:0001612)2.45183304
67Testicular atrophy (HP:0000029)2.40005382
68Rimmed vacuoles (HP:0003805)2.39064447
69Popliteal pterygium (HP:0009756)2.33439118
70Hip contracture (HP:0003273)2.27348754
71Muscular dystrophy (HP:0003560)2.22501783
72* Abnormality of the shoulder girdle musculature (HP:0001435)2.17901564
73Ragged-red muscle fibers (HP:0003200)2.17671043
74* Scapular winging (HP:0003691)2.16900535
75Muscle fiber atrophy (HP:0100295)2.12952722
76Abnormal EKG (HP:0003115)2.12934950
77Hypoplastic ischia (HP:0003175)2.12236762
78Broad metatarsal (HP:0001783)2.05610742
79Proximal amyotrophy (HP:0007126)2.03269425
80Abnormal finger flexion creases (HP:0006143)2.01708893
81Limb-girdle muscle weakness (HP:0003325)2.01467694
82* Foot dorsiflexor weakness (HP:0009027)1.99811627
83Left ventricular hypertrophy (HP:0001712)1.99200465
84Lower limb amyotrophy (HP:0007210)1.98892094
85* Respiratory insufficiency due to muscle weakness (HP:0002747)1.98049202
86Easy fatigability (HP:0003388)1.97919680
87Aplasia of the musculature (HP:0100854)1.95015469
88Slender build (HP:0001533)1.94603354
89* Palmoplantar keratoderma (HP:0000982)1.93415447
90Steppage gait (HP:0003376)1.92485812
91Hypoplastic heart (HP:0001961)1.92339756
92* Bulbar palsy (HP:0001283)1.85799160
93Abnormality of the ischium (HP:0003174)1.83896719
94Progressive muscle weakness (HP:0003323)1.83464823
95Conjunctival hamartoma (HP:0100780)1.79976710
96Aortic aneurysm (HP:0004942)1.78074769
97Abnormality of placental membranes (HP:0011409)1.77320109
98Amniotic constriction ring (HP:0009775)1.77320109
99Abnormality of the calcaneus (HP:0008364)1.76919247
100Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.74860730
101Type 2 muscle fiber atrophy (HP:0003554)1.71691324
102Nonprogressive disorder (HP:0003680)1.71046393
103* Limb-girdle muscle atrophy (HP:0003797)1.64051346
104Thin ribs (HP:0000883)1.62903097
105Ketoacidosis (HP:0001993)1.62632114
106Long clavicles (HP:0000890)1.60869839
107Generalized amyotrophy (HP:0003700)1.59681263
108Sudden cardiac death (HP:0001645)1.58353042
109Waddling gait (HP:0002515)1.58055017
110* Abnormality of the foot musculature (HP:0001436)1.57314251
111Limited hip movement (HP:0008800)1.57246422

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN6.61313294
2OBSCN5.44404636
3PHKG23.91566396
4PHKG13.91566396
5MYLK3.58382195
6TRIB33.49761493
7DMPK3.11306024
8LMTK22.75109762
9PKN22.74780556
10MUSK2.72437393
11PDK42.61770923
12PDK32.61770923
13PIK3CG2.42138500
14PIK3CA2.12006177
15NEK11.87724663
16PDK21.84249465
17BCKDK1.81708169
18MAPKAPK31.52262529
19TIE11.52027749
20PINK11.49275792
21MAP2K31.46305436
22NME11.42729107
23ILK1.36632461
24MAP3K71.35177251
25STK241.29076453
26MAPK121.23793546
27RIPK11.21388283
28PDGFRA1.03433957
29PRKD11.00890522
30TRPM70.99347674
31PAK30.97069852
32EPHB10.96066650
33MAP3K30.93795925
34TGFBR20.92676974
35MARK10.88904607
36CAMK2D0.85095332
37ERN10.81308678
38CDC42BPA0.75958224
39CCNB10.75925036
40MARK30.75130675
41MAP3K50.72549621
42PRKAA10.72128963
43MAP3K60.70108181
44PTK60.70044742
45DAPK30.68830189
46EPHB20.68525861
47* ROCK10.68521228
48PRKAA20.68348586
49SIK10.65215422
50STK38L0.62091758
51MAPK40.60003710
52MAPK70.58276317
53AKT20.58205078
54LATS10.57500317
55MAP3K100.56348608
56GRK70.55581123
57ICK0.55447761
58ZAK0.55111774
59NEK90.54716874
60FLT30.54347866
61FER0.54278899
62EEF2K0.53599307
63KSR20.53113805
64MAP3K130.52934601
65LRRK20.52768795
66SGK30.51570297
67MOS0.51541799
68SGK20.50116683
69MAP3K10.49914471
70PTK2B0.49374543
71CAMK2G0.48939525
72FGFR40.47131362
73CAMK2B0.46002067
74PKN10.45184907
75MAP2K40.44234261
76PDPK10.43745549
77KDR0.42798867
78MAP2K10.42171625
79STK380.41763974
80PAK20.41450703
81RPS6KC10.40043020
82RPS6KL10.40043020
83MTOR0.38568843
84WNK40.38454637
85PAK40.38315513
86STK40.38001743
87ARAF0.37652819
88LIMK10.36821127
89MARK20.36065096
90LATS20.35220547
91SGK2230.34916972
92SGK4940.34916972
93INSRR0.34355536
94RPS6KA60.33418070
95CAMK2A0.31648665
96TAOK10.31575417
97* PRKACB0.30308264
98CAMK40.30106908
99EPHA30.28147808
100DYRK1B0.27263900
101NLK0.26543643
102RPS6KA30.26314576
103MAPK110.25840998
104PDK10.25480347
105WNK10.25418141
106DDR20.24516502
107MAP2K60.24128632
108PRKG20.23755790
109ERBB30.23000590
110RPS6KB10.22711481
111PRKCE0.22153702
112PRKG10.21816358
113* PRKACA0.21799317
114MAPK100.21359714
115BMX0.21144086
116PRKACG0.21083881
117MAP3K110.20775755
118RPS6KA10.20668274
119MAPKAPK20.20127998
120* ROCK20.20110195
121RET0.19570597
122CAMK10.19236346
123RPS6KA20.19114128
124FGFR10.18892303
125RAF10.16761806
126TBK10.14882854
127SGK10.12651929

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000205.27194456
2* Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.35102531
3* Dilated cardiomyopathy_Homo sapiens_hsa054144.24212732
4Cardiac muscle contraction_Homo sapiens_hsa042604.20664639
52-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.94498761
6* Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.15679447
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.78127706
8Propanoate metabolism_Homo sapiens_hsa006402.64620761
9Fatty acid degradation_Homo sapiens_hsa000712.41326728
10Parkinsons disease_Homo sapiens_hsa050122.36695192
11Carbon metabolism_Homo sapiens_hsa012002.24200016
12Oxidative phosphorylation_Homo sapiens_hsa001902.21407019
13Viral myocarditis_Homo sapiens_hsa054161.99886317
14Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.85156265
15Alzheimers disease_Homo sapiens_hsa050101.84954394
16Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.76300587
17Fatty acid metabolism_Homo sapiens_hsa012121.73425229
18Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.72010929
19Pyruvate metabolism_Homo sapiens_hsa006201.47401423
20Focal adhesion_Homo sapiens_hsa045101.43296858
21Starch and sucrose metabolism_Homo sapiens_hsa005001.38917669
22Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.36840905
23Insulin resistance_Homo sapiens_hsa049311.32295656
24Huntingtons disease_Homo sapiens_hsa050161.31392072
25Insulin signaling pathway_Homo sapiens_hsa049101.22564848
26Glucagon signaling pathway_Homo sapiens_hsa049221.22267779
27ECM-receptor interaction_Homo sapiens_hsa045121.21283552
28Adipocytokine signaling pathway_Homo sapiens_hsa049201.18415549
29Tight junction_Homo sapiens_hsa045301.17548470
30cGMP-PKG signaling pathway_Homo sapiens_hsa040221.15717984
31Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.10588480
32Vascular smooth muscle contraction_Homo sapiens_hsa042701.08258371
33Biosynthesis of amino acids_Homo sapiens_hsa012301.06484372
34PPAR signaling pathway_Homo sapiens_hsa033201.04304539
35Oxytocin signaling pathway_Homo sapiens_hsa049211.00484700
36HIF-1 signaling pathway_Homo sapiens_hsa040660.92736835
37AMPK signaling pathway_Homo sapiens_hsa041520.90813379
38Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.87241044
39Calcium signaling pathway_Homo sapiens_hsa040200.83917630
40Amoebiasis_Homo sapiens_hsa051460.83010299
41Galactose metabolism_Homo sapiens_hsa000520.81815742
42Butanoate metabolism_Homo sapiens_hsa006500.81181451
43Arginine and proline metabolism_Homo sapiens_hsa003300.76860148
44Adherens junction_Homo sapiens_hsa045200.75635588
45Central carbon metabolism in cancer_Homo sapiens_hsa052300.74440544
46Proteoglycans in cancer_Homo sapiens_hsa052050.72808323
47Fatty acid elongation_Homo sapiens_hsa000620.72368439
48Circadian entrainment_Homo sapiens_hsa047130.71579168
49Long-term potentiation_Homo sapiens_hsa047200.67049044
50Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.63967288
51Tryptophan metabolism_Homo sapiens_hsa003800.63220226
52Fructose and mannose metabolism_Homo sapiens_hsa000510.61235477
53Regulation of actin cytoskeleton_Homo sapiens_hsa048100.58696007
54Lysine degradation_Homo sapiens_hsa003100.58160300
55Arginine biosynthesis_Homo sapiens_hsa002200.57924376
56Salivary secretion_Homo sapiens_hsa049700.57201921
57Gastric acid secretion_Homo sapiens_hsa049710.56941033
58Leukocyte transendothelial migration_Homo sapiens_hsa046700.56511290
59Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.56236346
60Longevity regulating pathway - mammal_Homo sapiens_hsa042110.55265825
61beta-Alanine metabolism_Homo sapiens_hsa004100.51824725
62Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.51316456
63Renin secretion_Homo sapiens_hsa049240.50400823
64Circadian rhythm_Homo sapiens_hsa047100.49947048
65Thyroid hormone signaling pathway_Homo sapiens_hsa049190.49304820
66Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.46726077
67VEGF signaling pathway_Homo sapiens_hsa043700.44316669
68Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.44240343
69Platelet activation_Homo sapiens_hsa046110.43263698
70Melanogenesis_Homo sapiens_hsa049160.42486277
71Fatty acid biosynthesis_Homo sapiens_hsa000610.42000713
72Type II diabetes mellitus_Homo sapiens_hsa049300.41023489
73AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.40823211
74Mineral absorption_Homo sapiens_hsa049780.39512902
75Phenylalanine metabolism_Homo sapiens_hsa003600.39053330
76Renal cell carcinoma_Homo sapiens_hsa052110.38267610
77Cholinergic synapse_Homo sapiens_hsa047250.37104980
78GnRH signaling pathway_Homo sapiens_hsa049120.36395903
79Amphetamine addiction_Homo sapiens_hsa050310.35841889
80Tyrosine metabolism_Homo sapiens_hsa003500.35507270
81Regulation of autophagy_Homo sapiens_hsa041400.33360620
82Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.32849668
83cAMP signaling pathway_Homo sapiens_hsa040240.32036891
84Fat digestion and absorption_Homo sapiens_hsa049750.30959378
85Nitrogen metabolism_Homo sapiens_hsa009100.30064313
86FoxO signaling pathway_Homo sapiens_hsa040680.29888500
87mTOR signaling pathway_Homo sapiens_hsa041500.29431918
88Olfactory transduction_Homo sapiens_hsa047400.28250284
89Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.27732581
90Insulin secretion_Homo sapiens_hsa049110.27699421
91Small cell lung cancer_Homo sapiens_hsa052220.25810596
92Toxoplasmosis_Homo sapiens_hsa051450.25037134
93Protein digestion and absorption_Homo sapiens_hsa049740.24024164
94Aldosterone synthesis and secretion_Homo sapiens_hsa049250.22512147
95MAPK signaling pathway_Homo sapiens_hsa040100.22459172
96Histidine metabolism_Homo sapiens_hsa003400.22258379
97PI3K-Akt signaling pathway_Homo sapiens_hsa041510.21104849
98Gap junction_Homo sapiens_hsa045400.20384624
99Sulfur relay system_Homo sapiens_hsa041220.19252089
100Pentose phosphate pathway_Homo sapiens_hsa000300.18496248
101Pancreatic secretion_Homo sapiens_hsa049720.18045843
102Dorso-ventral axis formation_Homo sapiens_hsa043200.17505668
103Notch signaling pathway_Homo sapiens_hsa043300.16816269
104Neurotrophin signaling pathway_Homo sapiens_hsa047220.16704395
105Estrogen signaling pathway_Homo sapiens_hsa049150.16698170
106Bile secretion_Homo sapiens_hsa049760.16371690
107Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.16312719
108Endometrial cancer_Homo sapiens_hsa052130.15375975
109Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.14652373
110Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.14589074
111Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.14574861
112Peroxisome_Homo sapiens_hsa041460.14521079
113Salmonella infection_Homo sapiens_hsa051320.14379242
114Ovarian steroidogenesis_Homo sapiens_hsa049130.14170479
115Chronic myeloid leukemia_Homo sapiens_hsa052200.13795452
116Acute myeloid leukemia_Homo sapiens_hsa052210.13264679
117Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.13198948
118Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.11946328
119Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.10229933
120Rap1 signaling pathway_Homo sapiens_hsa040150.08041927
121Metabolic pathways_Homo sapiens_hsa011000.07747788

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