MYLK2

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 myosin light chain kinase, a calcium/calmodulin dependent enzyme, that is exclusively expressed in adult skeletal muscle. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1skeletal muscle fiber development (GO:0048741)8.39971416
2actin filament-based movement (GO:0030048)7.85693644
3positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)7.29151274
4myotube cell development (GO:0014904)7.16728999
5glycogen catabolic process (GO:0005980)7.12885397
6response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.98204610
7plasma membrane repair (GO:0001778)6.86848261
8glucan catabolic process (GO:0009251)6.67946244
9creatine metabolic process (GO:0006600)6.65593019
10skeletal muscle tissue regeneration (GO:0043403)6.58403491
11striated muscle atrophy (GO:0014891)6.46043050
12sarcomere organization (GO:0045214)6.45887196
13purine nucleotide salvage (GO:0032261)6.36098092
14cellular polysaccharide catabolic process (GO:0044247)6.22275713
15carnitine shuttle (GO:0006853)6.15203573
16* striated muscle contraction (GO:0006941)6.14618984
17pyrimidine ribonucleoside catabolic process (GO:0046133)5.95233084
18regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.93770309
19polysaccharide catabolic process (GO:0000272)5.92957043
20response to muscle activity (GO:0014850)5.82885532
21regulation of cell communication by electrical coupling (GO:0010649)5.78652932
22myofibril assembly (GO:0030239)5.75651154
23response to inactivity (GO:0014854)5.70105767
24regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.68459726
25cytidine metabolic process (GO:0046087)5.64524101
26cytidine catabolic process (GO:0006216)5.64524101
27cytidine deamination (GO:0009972)5.64524101
28muscle atrophy (GO:0014889)5.61369086
29cardiac myofibril assembly (GO:0055003)5.53179976
30striated muscle adaptation (GO:0014888)5.48808642
31IMP metabolic process (GO:0046040)5.47803284
32* muscle contraction (GO:0006936)5.44573565
33glucan biosynthetic process (GO:0009250)5.31726794
34glycogen biosynthetic process (GO:0005978)5.31726794
35fatty acid transmembrane transport (GO:1902001)5.16313641
36NADH metabolic process (GO:0006734)5.12336495
37muscle fiber development (GO:0048747)5.00661893
38positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.89347313
39* muscle system process (GO:0003012)4.84596396
40regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)4.82324110
41* cardiac muscle contraction (GO:0060048)4.71663416
42glycogen metabolic process (GO:0005977)4.70600727
43negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.70070166
44cellular glucan metabolic process (GO:0006073)4.61284996
45glucan metabolic process (GO:0044042)4.61284996
46actomyosin structure organization (GO:0031032)4.56019946
47fructose metabolic process (GO:0006000)4.55360256
48carnitine transmembrane transport (GO:1902603)4.55197784
49cardiac muscle hypertrophy (GO:0003300)4.51587659
50muscle organ morphogenesis (GO:0048644)4.51492525
51muscle adaptation (GO:0043500)4.45073098
52neuronal action potential propagation (GO:0019227)4.41636630
53regulation of acyl-CoA biosynthetic process (GO:0050812)4.39739781
54striated muscle hypertrophy (GO:0014897)4.31211361
55IMP biosynthetic process (GO:0006188)4.27520597
562-oxoglutarate metabolic process (GO:0006103)4.25302882
57response to activity (GO:0014823)4.17044242
58amino-acid betaine transport (GO:0015838)4.15898280
59carnitine transport (GO:0015879)4.15898280
60cellular response to dexamethasone stimulus (GO:0071549)4.14302731
61negative regulation of muscle hypertrophy (GO:0014741)4.11164478
62gluconeogenesis (GO:0006094)4.11103926
63negative regulation of skeletal muscle tissue development (GO:0048642)4.10062381
64negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.07081136
65muscle cell fate commitment (GO:0042693)4.03183362
66cellular carbohydrate catabolic process (GO:0044275)4.00224904
67regulation of skeletal muscle cell differentiation (GO:2001014)3.98398394
68regulation of coenzyme metabolic process (GO:0051196)3.97974237
69regulation of cofactor metabolic process (GO:0051193)3.97974237
70response to dexamethasone (GO:0071548)3.86730376
71muscle hypertrophy (GO:0014896)3.84958228
72muscle organ development (GO:0007517)3.83971283
73muscle structure development (GO:0061061)3.78911212
74muscle cell cellular homeostasis (GO:0046716)3.72973123
75regulation of relaxation of muscle (GO:1901077)3.71270533
76adult heart development (GO:0007512)3.69223880
77regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.68083531
78hexose biosynthetic process (GO:0019319)3.67743951
79striated muscle cell development (GO:0055002)3.66301660
80myotube differentiation (GO:0014902)3.65207357
81negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.58251961
82negative regulation of calcium ion transmembrane transport (GO:1903170)3.58251961
83regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.56802320
84negative regulation of muscle contraction (GO:0045932)3.56257199
85skeletal muscle tissue development (GO:0007519)3.49137185
86ubiquinone biosynthetic process (GO:0006744)3.45412146
87negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.44867172
88regulation of calcium ion transmembrane transporter activity (GO:1901019)3.44646947
89regulation of calcium ion transmembrane transport (GO:1903169)3.44646947
90cardiac muscle adaptation (GO:0014887)3.42392250
91cardiac muscle hypertrophy in response to stress (GO:0014898)3.42392250
92muscle hypertrophy in response to stress (GO:0003299)3.42392250
93tricarboxylic acid cycle (GO:0006099)3.39760714
94* muscle tissue morphogenesis (GO:0060415)3.36112488
95syncytium formation by plasma membrane fusion (GO:0000768)3.35824562
96cardiac muscle cell development (GO:0055013)3.35117761
97striated muscle tissue development (GO:0014706)3.34533271
98cellular polysaccharide metabolic process (GO:0044264)3.31709658
99regulation of myoblast differentiation (GO:0045661)3.29439538
100relaxation of muscle (GO:0090075)3.26357132
101heart contraction (GO:0060047)3.25790693
102heart process (GO:0003015)3.25790693
103positive regulation of cation channel activity (GO:2001259)3.24755728
104regulation of sequestering of triglyceride (GO:0010889)3.24722254
105regulation of sulfur metabolic process (GO:0042762)3.24579094
106positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.24389127
107AMP metabolic process (GO:0046033)3.24013399
108regulation of the force of heart contraction (GO:0002026)3.23433792
109myoblast fusion (GO:0007520)3.23134278
110positive regulation of myotube differentiation (GO:0010831)3.20599276
111regulation of striated muscle contraction (GO:0006942)3.20210933
112regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.19551685
113cellular polysaccharide biosynthetic process (GO:0033692)3.17249100
114neuromuscular junction development (GO:0007528)3.14615655
115negative regulation of cAMP-mediated signaling (GO:0043951)3.14518782
116polysaccharide biosynthetic process (GO:0000271)3.12416179
117muscle cell development (GO:0055001)3.11544123
118negative regulation of potassium ion transmembrane transport (GO:1901380)3.10635101
119positive regulation of myoblast differentiation (GO:0045663)3.06439364
120intracellular lipid transport (GO:0032365)3.05620239
121polysaccharide metabolic process (GO:0005976)3.05307830
122endoplasmic reticulum organization (GO:0007029)3.03435217
123cellular carbohydrate biosynthetic process (GO:0034637)2.99733700
124syncytium formation (GO:0006949)2.98813436
125actin-myosin filament sliding (GO:0033275)12.8522635
126muscle filament sliding (GO:0030049)12.8522635
127regulation of skeletal muscle contraction (GO:0014819)12.7324171
128skeletal muscle contraction (GO:0003009)11.3892928
129skeletal muscle adaptation (GO:0043501)10.7956584
130sarcoplasmic reticulum calcium ion transport (GO:0070296)10.6827812
131actin-mediated cell contraction (GO:0070252)10.5098763

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human9.31659622
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.43380737
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.41962510
4TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.37616183
5ESR1_20079471_ChIP-ChIP_T-47D_Human3.37402568
6RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.03005310
7ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.72182865
8BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.67895464
9ZNF263_19887448_ChIP-Seq_K562_Human2.55649662
10CDX2_19796622_ChIP-Seq_MESCs_Mouse2.44143651
11PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.41184838
12TBX20_22080862_ChIP-Seq_HEART_Mouse2.41120584
13TBX20_22328084_ChIP-Seq_HEART_Mouse2.41120584
14AR_21572438_ChIP-Seq_LNCaP_Human2.24882262
15RARG_19884340_ChIP-ChIP_MEFs_Mouse2.24821156
16CTCF_21964334_ChIP-Seq_BJAB-B_Human1.88253617
17MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.79444592
18GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.76209000
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.76120009
20ESR1_21235772_ChIP-Seq_MCF-7_Human1.75888041
21BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.75562866
22CTCF_27219007_Chip-Seq_Bcells_Human1.70906807
23CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.70382527
24EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.65588261
25ZNF274_21170338_ChIP-Seq_K562_Hela1.64531224
26CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.61822154
27RBPJ_22232070_ChIP-Seq_NCS_Mouse1.57150813
28ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.55127649
29TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.52654108
30ESR2_21235772_ChIP-Seq_MCF-7_Human1.49605127
31PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.48004743
32ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.46323700
33CLOCK_20551151_ChIP-Seq_293T_Human1.44858303
34SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.42857286
35P63_26484246_Chip-Seq_KERATINOCYTES_Human1.41620426
36DNAJC2_21179169_ChIP-ChIP_NT2_Human1.41339931
37NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.38356148
38SA1_27219007_Chip-Seq_Bcells_Human1.38319074
39FOXH1_21741376_ChIP-Seq_ESCs_Human1.36929406
40EZH2_22144423_ChIP-Seq_EOC_Human1.33283536
41NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.33277635
42PPARA_22158963_ChIP-Seq_LIVER_Mouse1.32752859
43TDRD3_21172665_ChIP-Seq_MCF-7_Human1.32547715
44KDM2B_26808549_Chip-Seq_DND41_Human1.30639463
45TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.28827473
46EP300_21415370_ChIP-Seq_HL-1_Mouse1.28042218
47STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.27588066
48CTCF_21964334_Chip-Seq_Bcells_Human1.21540168
49LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.20173096
50DROSHA_22980978_ChIP-Seq_HELA_Human1.19966164
51* RARB_27405468_Chip-Seq_BRAIN_Mouse1.17275723
52CREB1_26743006_Chip-Seq_LNCaP_Human1.15347261
53NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.14971294
54* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.14548983
55ESR1_15608294_ChIP-ChIP_MCF-7_Human1.13320329
56CTCF_27219007_Chip-Seq_ERYTHROID_Human1.12235986
57CBP_20019798_ChIP-Seq_JUKART_Human1.11964017
58IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.11964017
59RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.10947702
60GATA4_21415370_ChIP-Seq_HL-1_Mouse1.09685999
61* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.07921886
62* OCT4_20526341_ChIP-Seq_ESCs_Human1.07752899
63ZFP281_18757296_ChIP-ChIP_E14_Mouse1.07324566
64SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.06816910
65UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.06777452
66IGF1R_20145208_ChIP-Seq_DFB_Human1.06696096
67RACK7_27058665_Chip-Seq_MCF-7_Human1.06077304
68RXR_22158963_ChIP-Seq_LIVER_Mouse1.05836462
69GATA1_19941827_ChIP-Seq_MEL_Mouse1.04304530
70NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.03948681
71E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.03848951
72LXR_22292898_ChIP-Seq_THP-1_Human1.03085176
73GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.02522373
74STAT6_21828071_ChIP-Seq_BEAS2B_Human1.01823747
75RAC3_21632823_ChIP-Seq_H3396_Human1.00970611
76TP53_20018659_ChIP-ChIP_R1E_Mouse1.00644895
77MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.99248210
78CBX2_27304074_Chip-Seq_ESCs_Mouse0.99195320
79* STAT1_20625510_ChIP-Seq_HELA_Human0.99033312
80TP63_17297297_ChIP-ChIP_HaCaT_Human0.98917767
81* YY1_22570637_ChIP-Seq_MALME-3M_Human0.97317168
82FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.97081430
83STAT3_1855785_ChIP-Seq_MESCs_Mouse0.96997394
84SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.96656118
85SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.96288936
86SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.95950557
87NFIB_24661679_ChIP-Seq_LUNG_Mouse0.95642953
88CRX_20693478_ChIP-Seq_RETINA_Mouse0.95056288
89WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.94649772
90ATF3_27146783_Chip-Seq_COLON_Human0.94057813
91SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.93689623
92P300_27058665_Chip-Seq_ZR-75-30cells_Human0.93222501
93ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.93191072
94SPI1_20517297_ChIP-Seq_HL60_Human0.93075815
95* MYC_27129775_Chip-Seq_CORNEA_Mouse0.92226576
96P53_22127205_ChIP-Seq_FIBROBLAST_Human0.92152058
97* CTCF_26484167_Chip-Seq_Bcells_Mouse0.91293531
98* TCF7_22412390_ChIP-Seq_EML_Mouse0.91108940
99EGR1_19032775_ChIP-ChIP_M12_Human0.90742536
100LXR_22158963_ChIP-Seq_LIVER_Mouse0.90657358
101TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.90209346
102GATA6_21074721_ChIP-Seq_CACO-2_Human0.88345571
103KDM2B_26808549_Chip-Seq_SUP-B15_Human0.87796769
104SUZ12_27294783_Chip-Seq_NPCs_Mouse0.87751541
105* NANOG_20526341_ChIP-Seq_ESCs_Human0.87070778
106TP63_22573176_ChIP-Seq_HFKS_Human0.86779399
107KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.86669098
108LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.86655581
109HIF1A_21447827_ChIP-Seq_MCF-7_Human0.86503076
110PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.85797153
111AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.85383909
112* EZH2_27294783_Chip-Seq_ESCs_Mouse0.85250620
113GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.84962809
114* P68_20966046_ChIP-Seq_HELA_Human0.84568505
115LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.84237781
116CJUN_26792858_Chip-Seq_BT549_Human0.84224019
117KLF4_19829295_ChIP-Seq_ESCs_Human0.83790361
118OCT4_21477851_ChIP-Seq_ESCs_Mouse0.83250805
119FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.82596350
120* CEBPB_22108803_ChIP-Seq_LS180_Human0.82404408
121NRF2_20460467_ChIP-Seq_MEFs_Mouse0.82011104
122NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.82011104
123AUTS2_25519132_ChIP-Seq_293T-REX_Human0.81366354
124CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.81128408
125GATA3_21867929_ChIP-Seq_CD8_Mouse0.80819492
126EZH2_27294783_Chip-Seq_NPCs_Mouse0.79762686
127EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.78826795
128PCGF2_27294783_Chip-Seq_ESCs_Mouse0.78258710
129ERG_21242973_ChIP-ChIP_JURKAT_Human0.76414692
130ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.76310954
131* DPY_21335234_ChIP-Seq_ESCs_Mouse0.74877787
132MTF2_20144788_ChIP-Seq_MESCs_Mouse0.73559423
133TRIM28_21343339_ChIP-Seq_HEK293_Human0.72477190
134EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.71373532
135* RAD21_21589869_ChIP-Seq_MESCs_Mouse0.69828579
136SA1_27219007_Chip-Seq_ERYTHROID_Human0.68910780
137HTT_18923047_ChIP-ChIP_STHdh_Human0.68797770

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio8.38232678
2MP0003646_muscle_fatigue6.43077824
3MP0000749_muscle_degeneration6.42261697
4MP0000751_myopathy5.60138971
5MP0000747_muscle_weakness4.58713031
6MP0002106_abnormal_muscle_physiology4.30447369
7MP0004036_abnormal_muscle_relaxation4.04988168
8MP0000759_abnormal_skeletal_muscle3.89188252
9MP0005451_abnormal_body_composition3.70826598
10MP0002269_muscular_atrophy3.66553473
11MP0005369_muscle_phenotype3.58743064
12MP0004130_abnormal_muscle_cell3.41386492
13MP0004087_abnormal_muscle_fiber3.39492105
14MP0002837_dystrophic_cardiac_calcinosis3.28160364
15MP0000750_abnormal_muscle_regeneration3.22670196
16* MP0005620_abnormal_muscle_contractility2.98505202
17MP0004233_abnormal_muscle_weight2.71954062
18MP0000733_abnormal_muscle_development2.38236146
19MP0002332_abnormal_exercise_endurance2.25775469
20MP0002108_abnormal_muscle_morphology2.08229539
21MP0006036_abnormal_mitochondrial_physio1.91252334
22MP0004185_abnormal_adipocyte_glucose1.77861806
23MP0005330_cardiomyopathy1.75751851
24MP0004084_abnormal_cardiac_muscle1.44516747
25MP0002971_abnormal_brown_adipose1.40518755
26MP0005666_abnormal_adipose_tissue1.39326375
27MP0004270_analgesia1.37256025
28MP0003806_abnormal_nucleotide_metabolis1.26312268
29MP0002972_abnormal_cardiac_muscle1.16835319
30MP0003221_abnormal_cardiomyocyte_apopto1.15778674
31MP0004484_altered_response_of1.15042319
32MP0004215_abnormal_myocardial_fiber1.11957799
33MP0010630_abnormal_cardiac_muscle1.10115129
34MP0005266_abnormal_metabolism1.04706552
35MP0005375_adipose_tissue_phenotype1.04128925
36MP0003705_abnormal_hypodermis_morpholog1.02006626
37MP0002822_catalepsy1.01274711
38MP0006035_abnormal_mitochondrial_morpho1.01067877
39MP0000013_abnormal_adipose_tissue0.99632568
40MP0004134_abnormal_chest_morphology0.97349656
41MP0001661_extended_life_span0.96569611
42MP0005275_abnormal_skin_tensile0.95097815
43MP0003950_abnormal_plasma_membrane0.85169913
44MP0003656_abnormal_erythrocyte_physiolo0.82164475
45MP0001544_abnormal_cardiovascular_syste0.78801667
46MP0005385_cardiovascular_system_phenoty0.78801667
47MP0009250_abnormal_appendicular_skeleto0.76431565
48MP0009780_abnormal_chondrocyte_physiolo0.73296233
49MP0000372_irregular_coat_pigmentation0.73220158
50MP0001299_abnormal_eye_distance/0.72619356
51MP0004147_increased_porphyrin_level0.72090613
52MP0003828_pulmonary_edema0.68422673
53MP0002234_abnormal_pharynx_morphology0.68068308
54MP0005334_abnormal_fat_pad0.67936058
55MP0008961_abnormal_basal_metabolism0.67896312
56MP0004043_abnormal_pH_regulation0.66228683
57MP0000762_abnormal_tongue_morphology0.65245785
58MP0003137_abnormal_impulse_conducting0.63158999
59MP0002078_abnormal_glucose_homeostasis0.62437819
60MP0003879_abnormal_hair_cell0.59962565
61MP0005670_abnormal_white_adipose0.59647824
62MP0000003_abnormal_adipose_tissue0.55884725
63MP0005083_abnormal_biliary_tract0.52565731
64MP0002089_abnormal_postnatal_growth/wei0.51740144
65MP0010030_abnormal_orbit_morphology0.50963755
66MP0001346_abnormal_lacrimal_gland0.50719911
67MP0000343_altered_response_to0.50452904
68MP0000266_abnormal_heart_morphology0.49824984
69MP0002896_abnormal_bone_mineralization0.47973951
70MP0005584_abnormal_enzyme/coenzyme_acti0.47732282
71MP0005452_abnormal_adipose_tissue0.47538572
72MP0003959_abnormal_lean_body0.46394533
73MP0002127_abnormal_cardiovascular_syste0.44761536
74MP0008775_abnormal_heart_ventricle0.44617379
75MP0008569_lethality_at_weaning0.44597240
76MP0009672_abnormal_birth_weight0.42274430
77MP0003045_fibrosis0.41643130
78MP0005167_abnormal_blood-brain_barrier0.41389244
79MP0004142_abnormal_muscle_tone0.39889913
80MP0002638_abnormal_pupillary_reflex0.37459175
81MP0001849_ear_inflammation0.37416132
82MP0002114_abnormal_axial_skeleton0.35240314
83MP0001243_abnormal_dermal_layer0.34834529
84MP0005503_abnormal_tendon_morphology0.33972215
85MP0002796_impaired_skin_barrier0.33315434
86MP0005319_abnormal_enzyme/_coenzyme0.33121119
87MP0000579_abnormal_nail_morphology0.32793196
88MP0009115_abnormal_fat_cell0.31005469
89MP0000383_abnormal_hair_follicle0.30998483
90MP0003948_abnormal_gas_homeostasis0.30461172
91MP0002734_abnormal_mechanical_nocicepti0.29226185
92MP0006138_congestive_heart_failure0.28233218
93MP0005332_abnormal_amino_acid0.27839410
94MP0003195_calcinosis0.25773357
95MP0000230_abnormal_systemic_arterial0.25248906
96MP0005376_homeostasis/metabolism_phenot0.24661481
97MP0005423_abnormal_somatic_nervous0.24369659
98MP0002118_abnormal_lipid_homeostasis0.24355607
99MP0005535_abnormal_body_temperature0.24181073
100MP0008438_abnormal_cutaneous_collagen0.23880716
101MP0008770_decreased_survivor_rate0.23031422
102MP0004510_myositis0.21874086
103MP0005165_increased_susceptibility_to0.21635046
104MP0001943_abnormal_respiration0.20772350
105MP0001853_heart_inflammation0.20748270
106MP0005166_decreased_susceptibility_to0.20448747
107MP0005187_abnormal_penis_morphology0.19769842
108MP0005076_abnormal_cell_differentiation0.19102431
109MP0004858_abnormal_nervous_system0.18794843
110MP0002249_abnormal_larynx_morphology0.18493373
111MP0002932_abnormal_joint_morphology0.18274481
112MP0002128_abnormal_blood_circulation0.18135977
113MP0004085_abnormal_heartbeat0.17967837
114MP0003567_abnormal_fetal_cardiomyocyte0.17081333
115MP0003755_abnormal_palate_morphology0.16919043
116MP0002066_abnormal_motor_capabilities/c0.16688525
117MP0003385_abnormal_body_wall0.16570854
118MP0002067_abnormal_sensory_capabilities0.14345916
119MP0009840_abnormal_foam_cell0.14091435
120MP0006276_abnormal_autonomic_nervous0.12773830
121MP0008874_decreased_physiological_sensi0.12536155
122MP0004197_abnormal_fetal_growth/weight/0.10787056

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.65065561
2Nemaline bodies (HP:0003798)9.03194259
3Exercise-induced myalgia (HP:0003738)9.01155585
4Exercise-induced muscle cramps (HP:0003710)8.24092493
5Distal arthrogryposis (HP:0005684)7.53646583
6Type 1 muscle fiber predominance (HP:0003803)7.38992310
7Myopathic facies (HP:0002058)6.97044906
8Muscle hypertrophy of the lower extremities (HP:0008968)6.93073430
9Round ear (HP:0100830)6.51142268
10Ulnar deviation of the wrist (HP:0003049)6.42073074
11Calf muscle hypertrophy (HP:0008981)6.03307651
12Calcaneovalgus deformity (HP:0001848)5.59109029
13Difficulty running (HP:0009046)5.55360010
14Myoglobinuria (HP:0002913)5.41797648
15Muscle fiber splitting (HP:0003555)5.30429786
16Absent phalangeal crease (HP:0006109)5.19286353
17Deformed tarsal bones (HP:0008119)5.16703197
18Muscle stiffness (HP:0003552)4.97680533
19Hyporeflexia of lower limbs (HP:0002600)4.77658446
20Rhabdomyolysis (HP:0003201)4.57005041
21EMG: myopathic abnormalities (HP:0003458)4.54588202
22Increased connective tissue (HP:0009025)4.50685397
23Abnormal finger flexion creases (HP:0006143)4.35282826
24Myotonia (HP:0002486)4.25703311
25Abnormality of the calf musculature (HP:0001430)4.01415731
26Abnormality of skeletal muscle fiber size (HP:0012084)3.87894465
27Malignant hyperthermia (HP:0002047)3.59328030
28Rimmed vacuoles (HP:0003805)3.54854970
29Neck muscle weakness (HP:0000467)3.49029156
30Increased variability in muscle fiber diameter (HP:0003557)3.46237612
31Abnormality of the calcaneus (HP:0008364)3.40481451
32Difficulty climbing stairs (HP:0003551)3.38169353
33Shoulder girdle muscle weakness (HP:0003547)3.37376624
34Pelvic girdle muscle weakness (HP:0003749)3.37153302
35Abnormality of the musculature of the pelvis (HP:0001469)3.25490402
36Abnormality of the hip-girdle musculature (HP:0001445)3.25490402
37Frequent falls (HP:0002359)3.24943490
38Hyperkalemia (HP:0002153)3.17023092
39Areflexia of lower limbs (HP:0002522)3.16439092
40Bundle branch block (HP:0011710)2.79905643
41Slender build (HP:0001533)2.75263031
42Paralysis (HP:0003470)2.72313043
43Abnormality of the neuromuscular junction (HP:0003398)2.58194849
44Fatigable weakness (HP:0003473)2.58194849
45* Subaortic stenosis (HP:0001682)2.49686954
46* Abnormality of the left ventricular outflow tract (HP:0011103)2.49686954
47EMG: neuropathic changes (HP:0003445)2.48916503
48Distal lower limb muscle weakness (HP:0009053)2.45104974
49Muscular dystrophy (HP:0003560)2.40859946
50Dilated cardiomyopathy (HP:0001644)2.39723876
51Limb-girdle muscle weakness (HP:0003325)2.30831944
52Hypoplastic ischia (HP:0003175)2.29992474
53Mildly elevated creatine phosphokinase (HP:0008180)2.27508698
54Nonprogressive disorder (HP:0003680)2.23503071
55Generalized muscle weakness (HP:0003324)2.20077063
56Proximal amyotrophy (HP:0007126)2.16475620
57Metatarsus adductus (HP:0001840)2.16454393
58Ulnar deviation of finger (HP:0009465)2.15157214
59Spinal rigidity (HP:0003306)2.14948772
60Bulbar palsy (HP:0001283)2.14582747
61Abnormality of the shoulder girdle musculature (HP:0001435)2.07135627
62* Sudden death (HP:0001699)2.06536712
63Centrally nucleated skeletal muscle fibers (HP:0003687)2.05431283
64Facial diplegia (HP:0001349)2.03577510
65Abnormality of the ischium (HP:0003174)2.01096828
66Limb-girdle muscle atrophy (HP:0003797)2.00586369
67Muscle fiber inclusion bodies (HP:0100299)10.0196578
68Scapular winging (HP:0003691)1.99900481
69Abnormality of the foot musculature (HP:0001436)1.99795248
70Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.97479219
71Gowers sign (HP:0003391)1.95896001
72Distal lower limb amyotrophy (HP:0008944)1.94607050
73* Asymmetric septal hypertrophy (HP:0001670)1.93318383
74Achilles tendon contracture (HP:0001771)1.91026586
75Progressive muscle weakness (HP:0003323)1.86023729
76Weak cry (HP:0001612)1.85895949
77Foot dorsiflexor weakness (HP:0009027)1.83696503
78Heart block (HP:0012722)1.83298628
79Waddling gait (HP:0002515)1.82565486
80Ragged-red muscle fibers (HP:0003200)1.79235817
81Tarsal synostosis (HP:0008368)1.78652512
82Stridor (HP:0010307)1.75474561
83Abnormality of the Achilles tendon (HP:0005109)1.74031181
84Abnormal atrioventricular conduction (HP:0005150)1.72496218
85Increased purine levels (HP:0004368)1.72056945
86Hyperuricemia (HP:0002149)1.72056945
87Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.67723554
88Increased density of long bones (HP:0006392)1.66598204
89Short palpebral fissure (HP:0012745)1.66203182
90Popliteal pterygium (HP:0009756)1.63945610
91Abnormality of potassium homeostasis (HP:0011042)1.63862720
92Cholelithiasis (HP:0001081)1.63658568
93Gout (HP:0001997)1.62075759
94Ventricular tachycardia (HP:0004756)1.61044301
95Synostosis involving bones of the lower limbs (HP:0009138)1.60615019
96Synostosis involving bones of the feet (HP:0009140)1.60615019
97Fetal akinesia sequence (HP:0001989)1.59846600
98Increased intramyocellular lipid droplets (HP:0012240)1.58580585
99Oligomenorrhea (HP:0000876)1.55949898
100Adducted thumb (HP:0001181)1.53742149
101Ventricular arrhythmia (HP:0004308)1.52589709
102Type 2 muscle fiber atrophy (HP:0003554)1.52211799
103Hip contracture (HP:0003273)1.50862151
104Congenital hip dislocation (HP:0001374)1.47269391
105Increased muscle lipid content (HP:0009058)1.46941547
106Respiratory insufficiency due to muscle weakness (HP:0002747)1.46845724
107Limited hip movement (HP:0008800)1.46782335
108Abnormal gallbladder morphology (HP:0012437)1.44638821
109Toxemia of pregnancy (HP:0100603)1.43476321
110Lower limb amyotrophy (HP:0007210)1.43208799
111Muscle fiber atrophy (HP:0100295)1.43023706
112Long clavicles (HP:0000890)1.41192524
113Exercise intolerance (HP:0003546)1.40429438
114Hypokalemia (HP:0002900)1.40136285
115Mesomelia (HP:0003027)1.38088208
116Lipoatrophy (HP:0100578)1.36737741
117Wrist flexion contracture (HP:0001239)1.36038022
118Insulin-resistant diabetes mellitus (HP:0000831)1.35981067
119Steppage gait (HP:0003376)1.27253571
120Amniotic constriction ring (HP:0009775)1.22153017

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN8.14085500
2TTN6.43135078
3PHKG15.90535450
4PHKG25.90535450
5NME14.73596623
6PIK3CG3.69579260
7MAP2K33.02176806
8NEK12.36307714
9MAP3K72.18035042
10PINK12.06421174
11PDK41.84772708
12PDK31.84772708
13TRIB31.81709855
14MAP2K41.71568985
15DMPK1.68345434
16PIK3CA1.66268632
17MAPK121.65580096
18BCKDK1.52911384
19MAP2K61.49077967
20PDK21.23819750
21MUSK1.07988320
22PRKAA20.96909527
23NEK90.93385072
24MAP3K30.92507736
25MARK10.91327771
26PRKAA10.87675927
27TAOK20.80170759
28MAPKAPK30.79211940
29ERBB30.77959483
30TRPM70.73379142
31MAP3K130.72295456
32STK240.66664527
33MAPK110.61660969
34CAMK40.60097270
35ZAK0.59690712
36MAP3K110.59313300
37TAOK10.57106077
38CAMK2G0.56771653
39SIK10.52703333
40AKT20.52629667
41PKN20.52423473
42EPHB10.49814690
43RIPK10.45659732
44ILK0.42290714
45CAMK10.40707770
46CAMK2B0.40269581
47CAMK2A0.39541780
48PTK60.39540177
49LIMK10.38939637
50EEF2K0.35112066
51TBK10.33958116
52SGK10.33734929
53MAP3K60.32885126
54KSR20.30144635
55PKN10.27863342
56RPS6KB10.27123062
57PRKACB0.27004203
58MAP3K10.26901488
59SGK20.26833770
60PRPF4B0.26668702
61MAPK130.26555940
62PRKG10.26200610
63MAP3K50.25381475
64RPS6KA30.25247136
65ARAF0.24108161
66CDK190.23758065
67CAMK1G0.22368432
68RPS6KB20.22110078
69MAPK70.20685047
70MAPK40.20467056
71MAP3K100.20121594
72PRKACA0.18523968
73TYK20.16290995
74MARK20.15528326
75PDPK10.14453251
76RPS6KL10.14335730
77RPS6KC10.14335730
78ROCK10.14277515
79PAK60.13963260
80DAPK20.13827533
81INSRR0.13652533
82MAP2K10.12722478
83PRKD10.12501164
84PNCK0.11660874
85PDK10.11506708
86TIE10.11340923
87ERN10.11336043
88LATS20.11093453
89MOS0.10798144
90BRAF0.10676903
91BMX0.10364749
92MARK30.10322106
93LATS10.10196735
94RPS6KA60.10123933
95RAF10.10078569
96ZAP700.09772780
97TGFBR20.09711505
98SGK4940.09271088
99SGK2230.09271088
100DYRK1B0.08651511
101RPS6KA10.08312795
102LRRK20.07831681
103PRKACG0.05504468
104FGFR10.05390399
105DDR20.05243405
106MTOR0.04979781
107MAPK100.04547736
108TNK20.04348381
109SGK30.04173451
110STK110.03488856
111CAMK2D0.03482897
112GSK3A0.03248324
113ICK0.03240171
114JAK20.03012865
115PTK2B0.02450585
116GSK3B0.02273961
117MAP3K90.01972835
118MAPK80.01940575
119CSNK1D0.01563554
120KSR10.00968976
121MAP3K8-0.0274298
122ROCK2-0.0263585
123MST1R-0.0190091
124PRKDC-0.0146254
125FER-0.0137609
126MAPK9-0.0128469
127CCNB1-0.0089883
128RPS6KA2-0.0041409

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.28656764
2Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.15472921
3Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.80812385
4Cardiac muscle contraction_Homo sapiens_hsa042603.51067179
5Dilated cardiomyopathy_Homo sapiens_hsa054143.34986074
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.29820369
7Starch and sucrose metabolism_Homo sapiens_hsa005003.25571666
8Circadian rhythm_Homo sapiens_hsa047102.64668108
9Glucagon signaling pathway_Homo sapiens_hsa049222.57105746
10Insulin signaling pathway_Homo sapiens_hsa049102.44265312
11Propanoate metabolism_Homo sapiens_hsa006402.34687760
12Insulin resistance_Homo sapiens_hsa049312.26280086
13Carbon metabolism_Homo sapiens_hsa012002.21040246
14Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.18451728
15* Oxytocin signaling pathway_Homo sapiens_hsa049212.08251864
16Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.97458696
17Galactose metabolism_Homo sapiens_hsa000521.92714858
18Adipocytokine signaling pathway_Homo sapiens_hsa049201.91168063
19AMPK signaling pathway_Homo sapiens_hsa041521.85706314
20Fructose and mannose metabolism_Homo sapiens_hsa000511.77126255
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.74023503
22Parkinsons disease_Homo sapiens_hsa050121.57425610
23Biosynthesis of amino acids_Homo sapiens_hsa012301.57375153
24Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.55691240
25Alzheimers disease_Homo sapiens_hsa050101.55281564
26* Calcium signaling pathway_Homo sapiens_hsa040201.52456739
27Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.50864155
28Pyruvate metabolism_Homo sapiens_hsa006201.43483884
29Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.39794664
30Viral myocarditis_Homo sapiens_hsa054161.38166035
31Arginine and proline metabolism_Homo sapiens_hsa003301.37667514
32Tight junction_Homo sapiens_hsa045301.34682391
33Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.30274694
34Fatty acid degradation_Homo sapiens_hsa000711.29711241
35Pentose phosphate pathway_Homo sapiens_hsa000301.29183195
36Oxidative phosphorylation_Homo sapiens_hsa001901.27444235
37Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.14270320
38GnRH signaling pathway_Homo sapiens_hsa049121.05106348
39Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.02357543
40FoxO signaling pathway_Homo sapiens_hsa040681.02153534
41Central carbon metabolism in cancer_Homo sapiens_hsa052300.95773867
42* cGMP-PKG signaling pathway_Homo sapiens_hsa040220.94874923
43Fatty acid metabolism_Homo sapiens_hsa012120.93519716
44Longevity regulating pathway - mammal_Homo sapiens_hsa042110.93205587
45Arginine biosynthesis_Homo sapiens_hsa002200.87554949
46Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.84652014
47mTOR signaling pathway_Homo sapiens_hsa041500.80658186
48* Focal adhesion_Homo sapiens_hsa045100.80262514
49HIF-1 signaling pathway_Homo sapiens_hsa040660.77683386
50VEGF signaling pathway_Homo sapiens_hsa043700.77046085
51MAPK signaling pathway_Homo sapiens_hsa040100.70679686
52Renin secretion_Homo sapiens_hsa049240.70536375
53Fatty acid biosynthesis_Homo sapiens_hsa000610.66208076
54* Vascular smooth muscle contraction_Homo sapiens_hsa042700.65651270
55Huntingtons disease_Homo sapiens_hsa050160.56992793
56Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.56707253
57PPAR signaling pathway_Homo sapiens_hsa033200.55316632
58Insulin secretion_Homo sapiens_hsa049110.51635653
59Thyroid hormone signaling pathway_Homo sapiens_hsa049190.50798189
60Leukocyte transendothelial migration_Homo sapiens_hsa046700.48750244
61Type II diabetes mellitus_Homo sapiens_hsa049300.47867842
62Amoebiasis_Homo sapiens_hsa051460.44395883
63beta-Alanine metabolism_Homo sapiens_hsa004100.43156881
64Adherens junction_Homo sapiens_hsa045200.41029752
65Proteoglycans in cancer_Homo sapiens_hsa052050.37413589
66Long-term depression_Homo sapiens_hsa047300.36955758
67Salivary secretion_Homo sapiens_hsa049700.36639129
68Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.34555786
69Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.33725556
70Aldosterone synthesis and secretion_Homo sapiens_hsa049250.33478098
71* Gastric acid secretion_Homo sapiens_hsa049710.32881458
72Tryptophan metabolism_Homo sapiens_hsa003800.32827094
73Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.32162189
74Butanoate metabolism_Homo sapiens_hsa006500.31698757
75Renal cell carcinoma_Homo sapiens_hsa052110.30334954
76Glioma_Homo sapiens_hsa052140.30308604
77Amphetamine addiction_Homo sapiens_hsa050310.29446407
78Lysine degradation_Homo sapiens_hsa003100.29141125
79Nitrogen metabolism_Homo sapiens_hsa009100.28575588
80Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.26831054
81Histidine metabolism_Homo sapiens_hsa003400.24222479
82AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.24049558
83cAMP signaling pathway_Homo sapiens_hsa040240.22312095
84* Regulation of actin cytoskeleton_Homo sapiens_hsa048100.21215601
85Cholinergic synapse_Homo sapiens_hsa047250.21210564
86Tyrosine metabolism_Homo sapiens_hsa003500.19257102
87Thyroid cancer_Homo sapiens_hsa052160.18356605
88Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.16619953
89Pancreatic secretion_Homo sapiens_hsa049720.14947650
90Prolactin signaling pathway_Homo sapiens_hsa049170.14629779
91* Platelet activation_Homo sapiens_hsa046110.14620969
92Sulfur metabolism_Homo sapiens_hsa009200.14481491
93Oocyte meiosis_Homo sapiens_hsa041140.14171748
94Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.13813884
95Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.13399575
96Glycerophospholipid metabolism_Homo sapiens_hsa005640.13244999
97Long-term potentiation_Homo sapiens_hsa047200.12163334
98Circadian entrainment_Homo sapiens_hsa047130.12130010
99Neurotrophin signaling pathway_Homo sapiens_hsa047220.10976123
100Peroxisome_Homo sapiens_hsa041460.10433496
101Sulfur relay system_Homo sapiens_hsa041220.10305249
102Phenylalanine metabolism_Homo sapiens_hsa003600.10269425
103Fatty acid elongation_Homo sapiens_hsa000620.09803073
104Olfactory transduction_Homo sapiens_hsa047400.08330799
105Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.08330411
106Purine metabolism_Homo sapiens_hsa002300.08320484
107Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.08178554
108Metabolic pathways_Homo sapiens_hsa011000.07779544
109Melanogenesis_Homo sapiens_hsa049160.07416578
110Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.07346287
111alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.07076368
112ECM-receptor interaction_Homo sapiens_hsa045120.07070850
113Regulation of autophagy_Homo sapiens_hsa041400.05948949
114Carbohydrate digestion and absorption_Homo sapiens_hsa049730.03909868
115Bile secretion_Homo sapiens_hsa049760.03858383
116Acute myeloid leukemia_Homo sapiens_hsa052210.03389200
117ABC transporters_Homo sapiens_hsa020100.02742607

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