SMYD1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcomere organization (GO:0045214)9.04429139
2muscle filament sliding (GO:0030049)8.96117720
3actin-myosin filament sliding (GO:0033275)8.96117720
4cardiac myofibril assembly (GO:0055003)8.48457479
5negative regulation of potassium ion transmembrane transporter activity (GO:1901017)8.04223519
6myofibril assembly (GO:0030239)7.99080967
7actin-mediated cell contraction (GO:0070252)7.44294232
8negative regulation of potassium ion transmembrane transport (GO:1901380)7.13381488
9regulation of skeletal muscle contraction (GO:0014819)7.05246177
10positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.82257229
11cardiac muscle contraction (GO:0060048)6.77668529
12regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.67427282
13tricarboxylic acid cycle (GO:0006099)6.37385389
14cardiac muscle cell development (GO:0055013)6.30054730
15plasma membrane repair (GO:0001778)6.18034203
16regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.14653483
17sarcoplasmic reticulum calcium ion transport (GO:0070296)6.11393104
18striated muscle contraction (GO:0006941)5.97289511
19regulation of relaxation of muscle (GO:1901077)5.96294583
20actomyosin structure organization (GO:0031032)5.94350653
21cardiac cell development (GO:0055006)5.91290498
22regulation of actin filament-based movement (GO:1903115)5.79509959
23cardiac muscle tissue morphogenesis (GO:0055008)5.72481605
24actin filament-based movement (GO:0030048)5.56145098
25carnitine shuttle (GO:0006853)5.55908300
26cardiac muscle hypertrophy (GO:0003300)5.53532744
27regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)5.52120833
28regulation of sarcomere organization (GO:0060297)5.46404851
29regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)5.39782079
30regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)5.38513449
31heart contraction (GO:0060047)5.34172390
32heart process (GO:0003015)5.34172390
33regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.33054481
34striated muscle hypertrophy (GO:0014897)5.31854493
35adult heart development (GO:0007512)5.26532020
36ventricular cardiac muscle cell action potential (GO:0086005)5.25512658
37regulation of cell communication by electrical coupling (GO:0010649)5.24420813
38muscle tissue morphogenesis (GO:0060415)5.21499192
39ventricular cardiac muscle tissue morphogenesis (GO:0055010)5.14925299
40regulation of acyl-CoA biosynthetic process (GO:0050812)5.01121001
41regulation of striated muscle contraction (GO:0006942)4.95942467
42skeletal muscle contraction (GO:0003009)4.94554446
43heart trabecula formation (GO:0060347)4.92368760
44fatty acid transmembrane transport (GO:1902001)4.83078769
45response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.78761292
46bundle of His cell to Purkinje myocyte communication (GO:0086069)4.78586618
47muscle hypertrophy (GO:0014896)4.71075833
48regulation of coenzyme metabolic process (GO:0051196)4.61923261
49regulation of cofactor metabolic process (GO:0051193)4.61923261
50regulation of membrane repolarization (GO:0060306)4.53490571
51cardiac chamber formation (GO:0003207)4.40867509
52regulation of the force of heart contraction (GO:0002026)4.37180464
53cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.35995054
54mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.31129340
55negative regulation of cardiac muscle cell apoptotic process (GO:0010667)4.16287259
56cell communication involved in cardiac conduction (GO:0086065)4.15775299
57carnitine transmembrane transport (GO:1902603)4.10954559
58muscle contraction (GO:0006936)4.07898850
59cardiac muscle hypertrophy in response to stress (GO:0014898)4.04445979
60muscle hypertrophy in response to stress (GO:0003299)4.04445979
61cardiac muscle adaptation (GO:0014887)4.04445979
62skeletal muscle fiber development (GO:0048741)4.03415547
63oxidative phosphorylation (GO:0006119)4.02963261
64striated muscle cell development (GO:0055002)3.99688001
65cardiac ventricle formation (GO:0003211)3.98720288
66creatine metabolic process (GO:0006600)3.97259097
67ATP synthesis coupled proton transport (GO:0015986)3.96177947
68energy coupled proton transport, down electrochemical gradient (GO:0015985)3.96177947
69response to inactivity (GO:0014854)3.92418873
70skeletal muscle adaptation (GO:0043501)3.88371820
71negative regulation of protein localization to cell surface (GO:2000009)3.87922512
72striated muscle adaptation (GO:0014888)3.86954537
73myotube cell development (GO:0014904)3.85791888
74negative regulation of striated muscle cell apoptotic process (GO:0010664)3.80242512
75cardiac muscle cell action potential involved in contraction (GO:0086002)3.79800258
76muscle system process (GO:0003012)3.78832475
77cardiac muscle cell action potential (GO:0086001)3.77444190
78negative regulation of potassium ion transport (GO:0043267)3.77116333
79regulation of cardiac muscle contraction (GO:0055117)3.74800294
80carnitine transport (GO:0015879)3.74390347
81amino-acid betaine transport (GO:0015838)3.74390347
82positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.73523045
83membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.73341386
84regulation of sulfur metabolic process (GO:0042762)3.72968620
85skeletal muscle tissue development (GO:0007519)3.72610861
86regulation of heart rate (GO:0002027)3.72097750
87cell communication by electrical coupling (GO:0010644)3.71720962
88respiratory electron transport chain (GO:0022904)3.71624003
89regulation of ATPase activity (GO:0043462)3.70899287
90regulation of ATP catabolic process (GO:1903289)3.70899287
91muscle cell fate commitment (GO:0042693)3.70062253
92regulation of cardioblast differentiation (GO:0051890)3.66786057
93regulation of heart contraction (GO:0008016)3.66739664
942-oxoglutarate metabolic process (GO:0006103)3.63644349
95muscle cell cellular homeostasis (GO:0046716)3.63439184
96mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.63074429
97regulation of muscle system process (GO:0090257)3.62602119
98NADH metabolic process (GO:0006734)3.61276562
99relaxation of muscle (GO:0090075)3.60739494
100electron transport chain (GO:0022900)3.60320483
101regulation of cardiac muscle cell contraction (GO:0086004)3.56925343
102negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.55111823
103negative regulation of calcium ion transmembrane transport (GO:1903170)3.55111823
104relaxation of cardiac muscle (GO:0055119)3.52595541
105pyrimidine ribonucleoside catabolic process (GO:0046133)3.50991928
106ventricular cardiac muscle cell development (GO:0055015)3.49026302
107glycogen catabolic process (GO:0005980)3.43473979
108muscle cell development (GO:0055001)3.42832736
109regulation of muscle contraction (GO:0006937)3.42591064
110regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.42286184
111glycogen biosynthetic process (GO:0005978)3.40852844
112glucan biosynthetic process (GO:0009250)3.40852844
113muscle fiber development (GO:0048747)3.39144015
114response to muscle activity (GO:0014850)3.39041514
115regulation of calcium ion transmembrane transport (GO:1903169)3.38777840
116regulation of calcium ion transmembrane transporter activity (GO:1901019)3.38777840
117muscle adaptation (GO:0043500)3.38651941
118response to caffeine (GO:0031000)3.36831589
119positive regulation of cation channel activity (GO:2001259)3.34556267
120glucan catabolic process (GO:0009251)3.31757316
121muscle organ development (GO:0007517)3.30564721
122muscle structure development (GO:0061061)3.29600087
123regulation of skeletal muscle cell differentiation (GO:2001014)3.26600696

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.94238738
2EP300_21415370_ChIP-Seq_HL-1_Mouse5.18548989
3ESRRB_18555785_ChIP-Seq_MESCs_Mouse4.74450924
4TBX20_22080862_ChIP-Seq_HEART_Mouse4.25292787
5TBX20_22328084_ChIP-Seq_HEART_Mouse4.25292787
6TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse4.13254628
7BP1_19119308_ChIP-ChIP_Hs578T_Human3.86303982
8RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.68411121
9ESR1_20079471_ChIP-ChIP_T-47D_Human3.66697082
10MEF2A_21415370_ChIP-Seq_HL-1_Mouse3.60960901
11CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human3.11172426
12ZNF263_19887448_ChIP-Seq_K562_Human2.98802869
13GATA4_21415370_ChIP-Seq_HL-1_Mouse2.70144366
14RARG_19884340_ChIP-ChIP_MEFs_Mouse2.63360044
15TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.29809009
16CDX2_19796622_ChIP-Seq_MESCs_Mouse2.23545876
17ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.23081837
18EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse2.16745311
19PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.05789206
20NKX2-5_21415370_ChIP-Seq_HL-1_Mouse2.04779902
21* NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.96202662
22GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.91167242
23ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.75961966
24PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.75766036
25THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.74313028
26CLOCK_20551151_ChIP-Seq_293T_Human1.70757394
27TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.53977402
28PPARA_22158963_ChIP-Seq_LIVER_Mouse1.51356076
29BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.50515092
30GATA1_22025678_ChIP-Seq_K562_Human1.49107164
31EZH2_22144423_ChIP-Seq_EOC_Human1.46423499
32ESR2_21235772_ChIP-Seq_MCF-7_Human1.45499647
33NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.44761283
34NFIB_24661679_ChIP-Seq_LUNG_Mouse1.42069469
35CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.37181171
36ISL1_27105846_Chip-Seq_CPCs_Mouse1.34185632
37BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.32561374
38EZH2_27294783_Chip-Seq_ESCs_Mouse1.32449187
39* LXR_22158963_ChIP-Seq_LIVER_Mouse1.29527674
40EZH2_27304074_Chip-Seq_ESCs_Mouse1.28495252
41VDR_22108803_ChIP-Seq_LS180_Human1.26077934
42FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.25100884
43HIF1A_21447827_ChIP-Seq_MCF-7_Human1.24436107
44PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.23512523
45* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.20425090
46PPAR_26484153_Chip-Seq_NCI-H1993_Human1.17365031
47ZNF274_21170338_ChIP-Seq_K562_Hela1.17214971
48CTCF_27219007_Chip-Seq_Bcells_Human1.15824993
49ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.12616464
50GBX2_23144817_ChIP-Seq_PC3_Human1.12583055
51TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.12114699
52RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.12104513
53RXR_22158963_ChIP-Seq_LIVER_Mouse1.12008366
54EZH2_18974828_ChIP-Seq_MESCs_Mouse1.10670009
55RNF2_18974828_ChIP-Seq_MESCs_Mouse1.10670009
56SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.09964681
57TRIM28_21343339_ChIP-Seq_HEK293_Human1.09279856
58PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.08542932
59SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.07297690
60NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.07196473
61SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.06112963
62KDM2B_26808549_Chip-Seq_SUP-B15_Human1.05545604
63EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.03610701
64KDM2B_26808549_Chip-Seq_DND41_Human1.02464495
65MTF2_20144788_ChIP-Seq_MESCs_Mouse1.02289830
66TP63_22573176_ChIP-Seq_HFKS_Human1.01564314
67CBX2_27304074_Chip-Seq_ESCs_Mouse1.01058018
68TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.00947158
69AUTS2_25519132_ChIP-Seq_293T-REX_Human0.98999590
70NRF2_20460467_ChIP-Seq_MEFs_Mouse0.98535867
71NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.98535867
72GATA1_19941826_ChIP-Seq_K562_Human0.97517959
73SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.97303381
74KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.95227692
75EZH2_27294783_Chip-Seq_NPCs_Mouse0.95063572
76ATF3_27146783_Chip-Seq_COLON_Human0.94419552
77CJUN_26792858_Chip-Seq_BT549_Human0.94107763
78SUZ12_27294783_Chip-Seq_NPCs_Mouse0.93993242
79WT1_25993318_ChIP-Seq_PODOCYTE_Human0.93924615
80SPI1_20517297_ChIP-Seq_HL60_Human0.93803188
81SMC3_22415368_ChIP-Seq_MEFs_Mouse0.93779274
82RARB_27405468_Chip-Seq_BRAIN_Mouse0.92988693
83WT1_19549856_ChIP-ChIP_CCG9911_Human0.92634933
84OCT4_20526341_ChIP-Seq_ESCs_Human0.92296795
85SMAD4_21799915_ChIP-Seq_A2780_Human0.91937864
86RACK7_27058665_Chip-Seq_MCF-7_Human0.91242796
87FOXH1_21741376_ChIP-Seq_ESCs_Human0.90810884
88CRX_20693478_ChIP-Seq_RETINA_Mouse0.90356213
89ESR1_21235772_ChIP-Seq_MCF-7_Human0.90028083
90ZFP281_18757296_ChIP-ChIP_E14_Mouse0.88245798
91GATA2_21666600_ChIP-Seq_HMVEC_Human0.87789575
92STAT3_1855785_ChIP-Seq_MESCs_Mouse0.87169821
93PCGF2_27294783_Chip-Seq_NPCs_Mouse0.86229911
94CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.86089459
95RBPJ_22232070_ChIP-Seq_NCS_Mouse0.86068696
96JARID2_20075857_ChIP-Seq_MESCs_Mouse0.85758883
97MYC_27129775_Chip-Seq_CORNEA_Mouse0.85575865
98RUNX1_27514584_Chip-Seq_MCF-7_Human0.85426710
99GF1_26923725_Chip-Seq_HPCs_Mouse0.85167340
100SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.85025437
101LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84340533
102NR3C1_23031785_ChIP-Seq_PC12_Mouse0.83717522
103ELK3_25401928_ChIP-Seq_HUVEC_Human0.83683501
104IGF1R_20145208_ChIP-Seq_DFB_Human0.83264722
105PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.82946259
106SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.82526008
107SOX9_24532713_ChIP-Seq_HFSC_Mouse0.81789187
108TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.81511072
109SALL4_18804426_ChIP-ChIP_XEN_Mouse0.81425004
110FOXA2_19822575_ChIP-Seq_HepG2_Human0.80888006
111PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.80832914
112GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.80473709
113RNF2_27304074_Chip-Seq_ESCs_Mouse0.78954112
114DROSHA_22980978_ChIP-Seq_HELA_Human0.78884642
115SMAD3_21741376_ChIP-Seq_HESCs_Human0.78860963
116CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.78288745
117STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.78255724
118ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.78013765
119YAP1_20516196_ChIP-Seq_MESCs_Mouse0.77404063
120TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.77372621
121CTCF_21964334_ChIP-Seq_BJAB-B_Human0.77366742
122OCT4_21477851_ChIP-Seq_ESCs_Mouse0.76769966
123CTCF_21964334_Chip-Seq_Bcells_Human0.76338935
124BCAT_22108803_ChIP-Seq_LS180_Human0.76318446
125GATA2_19941826_ChIP-Seq_K562_Human0.74926903
126P68_20966046_ChIP-Seq_HELA_Human0.74696003
127JARID2_20064375_ChIP-Seq_MESCs_Mouse0.74213024
128SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.73855009
129LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.73115159
130SOX2_21211035_ChIP-Seq_LN229_Gbm0.73052915
131HTT_18923047_ChIP-ChIP_STHdh_Human0.72843820
132CTNNB1_20460455_ChIP-Seq_HCT116_Human0.72722141
133SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.72385473
134LXR_22292898_ChIP-Seq_THP-1_Human0.72134886
135UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.71459692
136TDRD3_21172665_ChIP-Seq_MCF-7_Human0.71366255
137EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.70125047
138SMAD4_21741376_ChIP-Seq_HESCs_Human0.69281643
139SMC1_22415368_ChIP-Seq_MEFs_Mouse0.68660116
140SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.67570401
141YY1_22570637_ChIP-Seq_MALME-3M_Human0.67221458
142P63_26484246_Chip-Seq_KERATINOCYTES_Human0.66975352
143TP53_23651856_ChIP-Seq_MEFs_Mouse0.66917316
144FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.65988448
145GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.65786279
146* GATA1_19941827_ChIP-Seq_MEL86_Mouse0.64865500

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis6.01773991
2MP0004084_abnormal_cardiac_muscle5.58097711
3MP0003646_muscle_fatigue5.50822768
4MP0000751_myopathy5.18960906
5MP0000749_muscle_degeneration4.74955843
6MP0004036_abnormal_muscle_relaxation4.61944241
7MP0004215_abnormal_myocardial_fiber4.33850450
8MP0005330_cardiomyopathy3.81155701
9MP0004145_abnormal_muscle_electrophysio3.64981161
10MP0004087_abnormal_muscle_fiber3.35449408
11MP0002972_abnormal_cardiac_muscle3.08152020
12MP0002106_abnormal_muscle_physiology3.02513166
13MP0005620_abnormal_muscle_contractility3.01191414
14MP0000750_abnormal_muscle_regeneration2.89829336
15MP0008775_abnormal_heart_ventricle2.77624614
16MP0004130_abnormal_muscle_cell2.68229451
17MP0003137_abnormal_impulse_conducting2.67208217
18MP0002269_muscular_atrophy2.67092523
19MP0000747_muscle_weakness2.56453723
20* MP0010630_abnormal_cardiac_muscle2.50022197
21MP0001544_abnormal_cardiovascular_syste2.46218389
22MP0005385_cardiovascular_system_phenoty2.46218389
23MP0005369_muscle_phenotype2.44912333
24MP0000759_abnormal_skeletal_muscle2.38965187
25MP0004484_altered_response_of2.35174611
26MP0006138_congestive_heart_failure2.17971273
27MP0003828_pulmonary_edema2.05728896
28MP0003221_abnormal_cardiomyocyte_apopto2.05127762
29MP0004233_abnormal_muscle_weight2.01867352
30MP0004085_abnormal_heartbeat1.93525584
31MP0004510_myositis1.88558910
32MP0006036_abnormal_mitochondrial_physio1.85269761
33MP0003950_abnormal_plasma_membrane1.66061512
34MP0002127_abnormal_cardiovascular_syste1.65252038
35MP0002332_abnormal_exercise_endurance1.57063265
36MP0003567_abnormal_fetal_cardiomyocyte1.45421039
37MP0005666_abnormal_adipose_tissue1.29593638
38MP0006035_abnormal_mitochondrial_morpho1.13512181
39* MP0000266_abnormal_heart_morphology1.11915940
40MP0002234_abnormal_pharynx_morphology1.07325644
41MP0000733_abnormal_muscle_development1.07294715
42MP0002108_abnormal_muscle_morphology1.05797093
43MP0000343_altered_response_to1.04163484
44MP0001661_extended_life_span1.01885484
45MP0003806_abnormal_nucleotide_metabolis1.00603949
46MP0004185_abnormal_adipocyte_glucose1.00362012
47MP0005670_abnormal_white_adipose0.97679311
48MP0005451_abnormal_body_composition0.91764079
49MP0003279_aneurysm0.88941052
50MP0005266_abnormal_metabolism0.88469860
51MP0004270_analgesia0.87419321
52MP0005165_increased_susceptibility_to0.86702241
53MP0005375_adipose_tissue_phenotype0.85929239
54MP0010368_abnormal_lymphatic_system0.85818551
55MP0002128_abnormal_blood_circulation0.74363579
56MP0003705_abnormal_hypodermis_morpholog0.74226867
57MP0002822_catalepsy0.73122832
58MP0000230_abnormal_systemic_arterial0.72353306
59MP0003566_abnormal_cell_adhesion0.70905245
60MP0002971_abnormal_brown_adipose0.66977624
61MP0003045_fibrosis0.62395906
62MP0005623_abnormal_meninges_morphology0.58411624
63MP0004043_abnormal_pH_regulation0.54749908
64MP0000013_abnormal_adipose_tissue0.54532600
65MP0000767_abnormal_smooth_muscle0.54508354
66MP0004272_abnormal_basement_membrane0.53960550
67MP0001879_abnormal_lymphatic_vessel0.52185219
68MP0003941_abnormal_skin_development0.49721094
69MP0000003_abnormal_adipose_tissue0.47873971
70MP0002925_abnormal_cardiovascular_devel0.46821525
71MP0005319_abnormal_enzyme/_coenzyme0.46520874
72MP0004147_increased_porphyrin_level0.45549131
73MP0002078_abnormal_glucose_homeostasis0.44933963
74MP0009384_cardiac_valve_regurgitation0.43135850
75MP0005275_abnormal_skin_tensile0.41049658
76MP0009780_abnormal_chondrocyte_physiolo0.40727624
77MP0001784_abnormal_fluid_regulation0.38376787
78MP0005187_abnormal_penis_morphology0.37089963
79* MP0003984_embryonic_growth_retardation0.36765623
80MP0008961_abnormal_basal_metabolism0.36682526
81* MP0002088_abnormal_embryonic_growth/wei0.36676936
82MP0001614_abnormal_blood_vessel0.35768082
83MP0008438_abnormal_cutaneous_collagen0.34892181
84MP0008569_lethality_at_weaning0.33943367
85MP0003948_abnormal_gas_homeostasis0.32621589
86MP0002638_abnormal_pupillary_reflex0.32522928
87MP0002909_abnormal_adrenal_gland0.32413887
88MP0000372_irregular_coat_pigmentation0.28915232
89MP0009250_abnormal_appendicular_skeleto0.28323337
90MP0004134_abnormal_chest_morphology0.26503595
91MP0005584_abnormal_enzyme/coenzyme_acti0.26461281
92MP0005334_abnormal_fat_pad0.26046967
93MP0005535_abnormal_body_temperature0.22580193
94MP0002249_abnormal_larynx_morphology0.22345357
95MP0002114_abnormal_axial_skeleton0.21305339
96MP0005595_abnormal_vascular_smooth0.21131345
97MP0001727_abnormal_embryo_implantation0.20890628
98MP0010030_abnormal_orbit_morphology0.20579682
99MP0005452_abnormal_adipose_tissue0.20332753
100MP0009672_abnormal_birth_weight0.20277903
101MP0000762_abnormal_tongue_morphology0.19241517
102MP0002896_abnormal_bone_mineralization0.19103362
103MP0005376_homeostasis/metabolism_phenot0.19081729
104MP0002118_abnormal_lipid_homeostasis0.19000913
105MP0003879_abnormal_hair_cell0.18263745
106MP0003195_calcinosis0.18192072
107MP0009115_abnormal_fat_cell0.17532823
108MP0004924_abnormal_behavior0.17484539
109MP0005386_behavior/neurological_phenoty0.17484539
110MP0001984_abnormal_olfaction0.17334197
111MP0005377_hearing/vestibular/ear_phenot0.17148410
112MP0003878_abnormal_ear_physiology0.17148410
113* MP0001672_abnormal_embryogenesis/_devel0.17042247
114* MP0005380_embryogenesis_phenotype0.17042247
115MP0005332_abnormal_amino_acid0.16756910
116MP0005083_abnormal_biliary_tract0.16633443
117MP0005085_abnormal_gallbladder_physiolo0.15690160
118MP0005503_abnormal_tendon_morphology0.15682447
119MP0003656_abnormal_erythrocyte_physiolo0.15498288
120MP0000249_abnormal_blood_vessel0.15408127
121MP0001958_emphysema0.15373258
122MP0000534_abnormal_ureter_morphology0.14877249
123MP0001943_abnormal_respiration0.14688600
124MP0001299_abnormal_eye_distance/0.12855345

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)7.39996715
2Exercise-induced muscle cramps (HP:0003710)7.12536535
3Exercise-induced myalgia (HP:0003738)7.09418339
4Calf muscle hypertrophy (HP:0008981)6.81143875
5Muscle hypertrophy of the lower extremities (HP:0008968)6.59048508
6Ventricular tachycardia (HP:0004756)5.99894814
7Muscle fiber splitting (HP:0003555)5.65883610
8Myoglobinuria (HP:0002913)5.39024549
9Abnormality of the calf musculature (HP:0001430)5.38915230
10Abnormality of the left ventricular outflow tract (HP:0011103)5.34034092
11Subaortic stenosis (HP:0001682)5.34034092
12Hyporeflexia of lower limbs (HP:0002600)5.21053117
13Atrial fibrillation (HP:0005110)5.16098575
14Muscle fiber inclusion bodies (HP:0100299)4.86627876
15Primary atrial arrhythmia (HP:0001692)4.81462801
16Lipoatrophy (HP:0100578)4.76559686
17Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)4.76384312
18Supraventricular tachycardia (HP:0004755)4.65068362
19EMG: myopathic abnormalities (HP:0003458)4.61122098
20Supraventricular arrhythmia (HP:0005115)4.55423592
21Type 1 muscle fiber predominance (HP:0003803)4.34096700
22Rhabdomyolysis (HP:0003201)4.32108384
23Right ventricular cardiomyopathy (HP:0011663)4.30049456
24Syncope (HP:0001279)4.17818708
25Nemaline bodies (HP:0003798)4.15367566
26Difficulty running (HP:0009046)4.08208565
27Dilated cardiomyopathy (HP:0001644)4.01597463
28Increased connective tissue (HP:0009025)4.00777541
29Asymmetric septal hypertrophy (HP:0001670)3.97795338
30Palpitations (HP:0001962)3.84042807
31Prolonged QT interval (HP:0001657)3.82507181
32Bundle branch block (HP:0011710)3.79579086
33Ventricular arrhythmia (HP:0004308)3.73438393
34Myotonia (HP:0002486)3.67532827
35Calcaneovalgus deformity (HP:0001848)3.59385598
36Muscle stiffness (HP:0003552)3.31155247
37Heart block (HP:0012722)3.27749281
38Absent phalangeal crease (HP:0006109)3.18553016
39Ventricular fibrillation (HP:0001663)3.17285029
40Deformed tarsal bones (HP:0008119)3.16771836
41Atrioventricular block (HP:0001678)3.11501637
42Difficulty climbing stairs (HP:0003551)3.08881133
43Abnormal atrioventricular conduction (HP:0005150)3.08643477
44Distal arthrogryposis (HP:0005684)3.00397181
45Neck muscle weakness (HP:0000467)2.97760071
46Malignant hyperthermia (HP:0002047)2.82845317
47Abnormal EKG (HP:0003115)2.77568423
48Abnormality of skeletal muscle fiber size (HP:0012084)2.75962867
49Areflexia of lower limbs (HP:0002522)2.75126267
50Distal lower limb muscle weakness (HP:0009053)2.74224978
51Increased variability in muscle fiber diameter (HP:0003557)2.73653967
52Round ear (HP:0100830)2.71079985
53Myopathic facies (HP:0002058)2.67753566
54Left ventricular hypertrophy (HP:0001712)2.67261082
55Rimmed vacuoles (HP:0003805)2.66311070
56Abnormal finger flexion creases (HP:0006143)2.61061301
57Hip contracture (HP:0003273)2.58009281
58Fetal akinesia sequence (HP:0001989)2.54429391
59Abnormal mitochondria in muscle tissue (HP:0008316)2.53623674
60Hepatic necrosis (HP:0002605)2.52056009
61Acute necrotizing encephalopathy (HP:0006965)2.46925146
62Bulbar palsy (HP:0001283)2.37367793
63EMG: neuropathic changes (HP:0003445)2.35865365
64Ketoacidosis (HP:0001993)2.35435666
65Palmoplantar keratoderma (HP:0000982)2.34620345
66Generalized muscle weakness (HP:0003324)2.34355695
67Weak cry (HP:0001612)2.31191121
68Hypoglycemic coma (HP:0001325)2.30219744
69Centrally nucleated skeletal muscle fibers (HP:0003687)2.29877305
70Ragged-red muscle fibers (HP:0003200)2.25411297
71Mildly elevated creatine phosphokinase (HP:0008180)2.22783939
72Ulnar deviation of the wrist (HP:0003049)2.22185123
73Limb-girdle muscle atrophy (HP:0003797)2.21622746
74Conjunctival hamartoma (HP:0100780)2.21523670
75Hypoplastic ischia (HP:0003175)2.19043524
76Fatigable weakness (HP:0003473)2.17087022
77Abnormality of the neuromuscular junction (HP:0003398)2.17087022
78Exercise intolerance (HP:0003546)2.14187484
79Hepatocellular necrosis (HP:0001404)2.13403050
80Acute encephalopathy (HP:0006846)2.11819555
81Muscular dystrophy (HP:0003560)2.11083446
82Gowers sign (HP:0003391)2.08797292
83Abnormality of the calcaneus (HP:0008364)2.07947041
84Increased muscle lipid content (HP:0009058)2.07614275
85Progressive macrocephaly (HP:0004481)2.03314448
86Popliteal pterygium (HP:0009756)2.03119775
87Abnormality of dicarboxylic acid metabolism (HP:0010995)2.02600237
88Dicarboxylic aciduria (HP:0003215)2.02600237
89Abnormality of fatty-acid metabolism (HP:0004359)2.01716077
90Mitochondrial inheritance (HP:0001427)2.00381869
91Scapular winging (HP:0003691)1.99859806
92Abnormality of the foot musculature (HP:0001436)1.98748794
93Cerebral edema (HP:0002181)1.97117125
94Abnormality of the shoulder girdle musculature (HP:0001435)1.96420415
95Increased CSF lactate (HP:0002490)1.96030965
96Waddling gait (HP:0002515)1.92995008
97Congenital malformation of the right heart (HP:0011723)1.91004999
98Double outlet right ventricle (HP:0001719)1.91004999
99Abnormality of the ischium (HP:0003174)1.90893978
100Facial diplegia (HP:0001349)1.90203871
101Pheochromocytoma (HP:0002666)1.89356057
102Frequent falls (HP:0002359)1.88462281
103Distal lower limb amyotrophy (HP:0008944)1.87522573
104Progressive muscle weakness (HP:0003323)1.87134615
105Increased intramyocellular lipid droplets (HP:0012240)1.86064735
106Sudden cardiac death (HP:0001645)1.85417868
107Hyperalaninemia (HP:0003348)1.85234151
108Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.85234151
109Abnormality of alanine metabolism (HP:0010916)1.85234151
110Congestive heart failure (HP:0001635)1.84333270
111Foot dorsiflexor weakness (HP:0009027)1.84295192
112Hypoplastic heart (HP:0001961)1.83531305
113Spinal rigidity (HP:0003306)1.83341703
114Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.81463088
115Testicular atrophy (HP:0000029)1.81355790
116Lactic acidosis (HP:0003128)1.81107149
117Respiratory insufficiency due to muscle weakness (HP:0002747)1.79638228
118Limited hip movement (HP:0008800)1.79337851
119Steppage gait (HP:0003376)1.78252734
120Slender build (HP:0001533)1.77501049
121Proximal amyotrophy (HP:0007126)1.77278842
122Aplasia of the musculature (HP:0100854)1.76288142
123Lower limb amyotrophy (HP:0007210)1.74768576
124Hyperkalemia (HP:0002153)1.74472728
125Type 2 muscle fiber atrophy (HP:0003554)1.67439278
126Metatarsus adductus (HP:0001840)1.62917596
127Limb-girdle muscle weakness (HP:0003325)1.54307742
128Muscle fiber atrophy (HP:0100295)1.52242200

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN6.74394876
2TTN5.64726646
3PHKG24.31506580
4PHKG14.31506580
5PDK33.35107927
6PDK43.35107927
7MYLK3.17055699
8PKN23.02643538
9DMPK2.88165103
10LMTK22.71418210
11NEK12.62183842
12STK242.61874526
13TRIB32.58565753
14PIK3CA2.29941579
15BCKDK2.22119360
16MUSK2.05917779
17PDK22.02973001
18PINK11.90116151
19TIE11.72990646
20ZAK1.43838793
21MAP3K71.41205916
22ILK1.36469215
23MAP2K31.34773361
24MARK11.26925691
25NME11.21238112
26MAPK121.17875113
27PIK3CG1.15167479
28STK38L1.14425805
29GRK71.12641677
30CAMK2D1.00904670
31TRPM71.00773133
32PRKD10.99000263
33PAK30.97601288
34CDC42BPA0.92617579
35EEF2K0.92606912
36FLT30.89471658
37PRKAA20.89072915
38PRKAA10.88890489
39ROCK10.88451996
40INSRR0.78637068
41MAP3K50.78259191
42MAPKAPK30.76303604
43STK40.73449850
44WNK40.73242258
45MAP3K30.72617152
46MOS0.70728924
47RIPK10.69407221
48CCNB10.69197446
49NEK90.65584962
50DAPK30.60705583
51PKN10.58323806
52MAPK40.58112585
53DYRK1B0.56990600
54CAMK40.54917656
55ERBB30.52360488
56KSR20.48924305
57MAP2K10.48826063
58STK380.47564658
59CAMK2B0.47469012
60KDR0.46916271
61MAP2K40.46735191
62PRKACB0.46493940
63AKT20.46407402
64PDGFRA0.46295714
65WNK10.45485544
66CAMK10.45025038
67LIMK10.44581730
68PTK2B0.44343064
69CAMK2A0.44314646
70ROCK20.43237701
71TGFBR20.41584568
72CAMK2G0.39876626
73EPHA30.39176641
74MAP3K100.38398391
75MAP3K60.38288167
76STK390.35213061
77PRKACA0.35056926
78PTK60.34707043
79MAP2K60.34448387
80DDR20.34026877
81LATS10.33563256
82ICK0.33210623
83PRKD30.32788824
84MAP3K130.32244212
85RPS6KC10.31811325
86RPS6KL10.31811325
87PRKACG0.30624144
88EPHB10.29901075
89PDPK10.28750957
90PDK10.27492696
91MAPK100.26134439
92SIK10.26102385
93MAPK110.25547682
94RPS6KA60.24768056
95RPS6KB20.24602646
96SGK20.24174137
97PRKG10.23163796
98LATS20.21256340
99RPS6KA10.19034701
100PRKCE0.18909818
101MARK20.15995645
102MTOR0.15576142
103MAPK70.15423739
104SGK10.15383462
105RPS6KA30.15363134
106PRKCH0.14717061
107NLK0.14539127
108RAF10.14086809
109MAP3K110.13869876
110LRRK20.13604007
111STK110.13592977
112MARK30.13504251
113SGK30.12232992
114RET0.11955981
115FGFR10.11936144
116RPS6KB10.11905742
117MAP3K10.11470212
118EPHB20.11286717
119KSR10.11160290
120PRKG20.09076413
121PRKCQ0.08008516
122STK30.07056807
123TAOK10.04694664
124FER0.04471696

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000206.00039754
2Cardiac muscle contraction_Homo sapiens_hsa042604.46241661
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012104.31043269
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.95601209
5Dilated cardiomyopathy_Homo sapiens_hsa054143.84637587
6Propanoate metabolism_Homo sapiens_hsa006403.15131798
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.06509838
8Parkinsons disease_Homo sapiens_hsa050122.99273720
9Oxidative phosphorylation_Homo sapiens_hsa001902.81082316
10Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.75687219
11Fatty acid degradation_Homo sapiens_hsa000712.71961141
12Carbon metabolism_Homo sapiens_hsa012002.61775720
13Alzheimers disease_Homo sapiens_hsa050102.20292047
14Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.16606649
15Fatty acid metabolism_Homo sapiens_hsa012122.05019814
16Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.02287546
17Pyruvate metabolism_Homo sapiens_hsa006201.84625919
18Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.84412272
19Huntingtons disease_Homo sapiens_hsa050161.82317114
20Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.63291382
21Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.60941328
22Viral myocarditis_Homo sapiens_hsa054161.58802480
23Biosynthesis of amino acids_Homo sapiens_hsa012301.40465735
24Starch and sucrose metabolism_Homo sapiens_hsa005001.39166024
25Glucagon signaling pathway_Homo sapiens_hsa049221.30794765
26Butanoate metabolism_Homo sapiens_hsa006501.22607487
27Insulin resistance_Homo sapiens_hsa049311.22446283
28Fatty acid elongation_Homo sapiens_hsa000621.15675549
29Insulin signaling pathway_Homo sapiens_hsa049101.09064317
30cGMP-PKG signaling pathway_Homo sapiens_hsa040221.08116365
31Adipocytokine signaling pathway_Homo sapiens_hsa049201.05090339
32PPAR signaling pathway_Homo sapiens_hsa033200.96419248
33Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.94912250
34Galactose metabolism_Homo sapiens_hsa000520.88410035
35Oxytocin signaling pathway_Homo sapiens_hsa049210.86140845
36Calcium signaling pathway_Homo sapiens_hsa040200.83857921
37AMPK signaling pathway_Homo sapiens_hsa041520.82412687
38HIF-1 signaling pathway_Homo sapiens_hsa040660.80578581
39Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.80559778
40Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.78667699
41Focal adhesion_Homo sapiens_hsa045100.78148966
42Tight junction_Homo sapiens_hsa045300.75091866
43Arginine biosynthesis_Homo sapiens_hsa002200.74314158
44Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.74101334
45Tryptophan metabolism_Homo sapiens_hsa003800.73156365
46Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.73136741
47Fructose and mannose metabolism_Homo sapiens_hsa000510.72767885
48beta-Alanine metabolism_Homo sapiens_hsa004100.69836806
49Arginine and proline metabolism_Homo sapiens_hsa003300.67967736
50Central carbon metabolism in cancer_Homo sapiens_hsa052300.67743027
51Lysine degradation_Homo sapiens_hsa003100.66206190
52Vascular smooth muscle contraction_Homo sapiens_hsa042700.65902003
53Circadian rhythm_Homo sapiens_hsa047100.59289933
54Long-term potentiation_Homo sapiens_hsa047200.55264747
55Phenylalanine metabolism_Homo sapiens_hsa003600.54791686
56Type II diabetes mellitus_Homo sapiens_hsa049300.50384567
57Salivary secretion_Homo sapiens_hsa049700.49740041
58Fatty acid biosynthesis_Homo sapiens_hsa000610.48064017
59Peroxisome_Homo sapiens_hsa041460.45430301
60Longevity regulating pathway - mammal_Homo sapiens_hsa042110.43787477
61Adherens junction_Homo sapiens_hsa045200.43525493
62Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.41155262
63Thyroid hormone signaling pathway_Homo sapiens_hsa049190.38110587
64Renin secretion_Homo sapiens_hsa049240.36398270
65ECM-receptor interaction_Homo sapiens_hsa045120.35595160
66Amphetamine addiction_Homo sapiens_hsa050310.35307807
67Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.34873514
68Gastric acid secretion_Homo sapiens_hsa049710.32432639
69Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.31349279
70Melanogenesis_Homo sapiens_hsa049160.30947640
71Protein digestion and absorption_Homo sapiens_hsa049740.28780230
72Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.28654783
73cAMP signaling pathway_Homo sapiens_hsa040240.28615100
74Amoebiasis_Homo sapiens_hsa051460.27753398
75Cysteine and methionine metabolism_Homo sapiens_hsa002700.27458007
76Nitrogen metabolism_Homo sapiens_hsa009100.27364089
77Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.26734129
78Insulin secretion_Homo sapiens_hsa049110.26690673
79Leukocyte transendothelial migration_Homo sapiens_hsa046700.25979428
80Pentose phosphate pathway_Homo sapiens_hsa000300.24634304
81Metabolic pathways_Homo sapiens_hsa011000.24298053
82Regulation of actin cytoskeleton_Homo sapiens_hsa048100.23919591
83mTOR signaling pathway_Homo sapiens_hsa041500.22551669
84Tyrosine metabolism_Homo sapiens_hsa003500.20635364
85Proteoglycans in cancer_Homo sapiens_hsa052050.20578424
86Endometrial cancer_Homo sapiens_hsa052130.19726376
87Regulation of autophagy_Homo sapiens_hsa041400.18286129
88FoxO signaling pathway_Homo sapiens_hsa040680.17667452
89Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.16141917
90GABAergic synapse_Homo sapiens_hsa047270.14500779
91Platelet activation_Homo sapiens_hsa046110.14341767
92Carbohydrate digestion and absorption_Homo sapiens_hsa049730.13459274
93Circadian entrainment_Homo sapiens_hsa047130.13268761
94GnRH signaling pathway_Homo sapiens_hsa049120.13067387
95Aldosterone synthesis and secretion_Homo sapiens_hsa049250.12562455
96Renal cell carcinoma_Homo sapiens_hsa052110.11958337
97Fat digestion and absorption_Homo sapiens_hsa049750.11046452
98Dopaminergic synapse_Homo sapiens_hsa047280.10396700
99Olfactory transduction_Homo sapiens_hsa047400.10019414
100VEGF signaling pathway_Homo sapiens_hsa043700.08977761
101Bile secretion_Homo sapiens_hsa049760.03917163
102MAPK signaling pathway_Homo sapiens_hsa040100.02577951
103Ovarian steroidogenesis_Homo sapiens_hsa049130.01470522
104Glycerolipid metabolism_Homo sapiens_hsa005610.00439363
105Vasopressin-regulated water reabsorption_Homo sapiens_hsa04962-0.0622699
106PI3K-Akt signaling pathway_Homo sapiens_hsa04151-0.0610086
107Small cell lung cancer_Homo sapiens_hsa05222-0.0468116
108Toxoplasmosis_Homo sapiens_hsa05145-0.0460766
109Glycine, serine and threonine metabolism_Homo sapiens_hsa00260-0.0383525
110Gap junction_Homo sapiens_hsa04540-0.0371676
111AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa04933-0.0240751
112Pancreatic secretion_Homo sapiens_hsa04972-0.0173361
113Cholinergic synapse_Homo sapiens_hsa04725-0.0163248
114Dorso-ventral axis formation_Homo sapiens_hsa04320-0.0141864
115Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961-0.0048337

Most similar genes based on co-expression Upload to Enrichr

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