NEB

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 nebulin, a giant protein component of the cytoskeletal matrix that coexists with the thick and thin filaments within the sarcomeres of skeletal muscle. In most vertebrates, nebulin accounts for 3 to 4% of the total myofibrillar protein. The encoded protein contains approximately 30-amino acid long modules that can be classified into 7 types and other repeated modules. Protein isoform sizes vary from 600 to 800 kD due to alternative splicing that is tissue-, species-,and developmental stage-specific. Of the 183 exons in the nebulin gene, at least 43 are alternatively spliced, although exons 143 and 144 are not found in the same transcript. Of the several thousand transcript variants predicted for nebulin, the RefSeq Project has decided to create three representative RefSeq records. Mutations in this gene are associated with recessive nemaline myopathy. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1skeletal muscle adaptation (GO:0043501)8.56977837
2skeletal muscle fiber development (GO:0048741)8.52067487
3plasma membrane repair (GO:0001778)8.48977890
4* actin filament-based movement (GO:0030048)8.40493826
5myotube cell development (GO:0014904)7.43020638
6striated muscle contraction (GO:0006941)6.85555516
7response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.54794614
8skeletal muscle tissue regeneration (GO:0043403)6.40497261
9sarcomere organization (GO:0045214)6.23817998
10negative regulation of potassium ion transmembrane transporter activity (GO:1901017)6.07518040
11response to inactivity (GO:0014854)6.05312870
12striated muscle atrophy (GO:0014891)5.86051748
13myofibril assembly (GO:0030239)5.71885283
14muscle contraction (GO:0006936)5.68430164
15positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)5.62948683
16creatine metabolic process (GO:0006600)5.30106593
17glycogen catabolic process (GO:0005980)5.20841204
18muscle fiber development (GO:0048747)5.16687522
19pyrimidine ribonucleoside catabolic process (GO:0046133)5.13777966
20muscle atrophy (GO:0014889)5.13541503
21cardiac muscle hypertrophy (GO:0003300)5.10669878
22carnitine shuttle (GO:0006853)5.09912857
23regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)5.07922715
24muscle cell cellular homeostasis (GO:0046716)5.07671894
25muscle system process (GO:0003012)5.03334757
26cytidine deamination (GO:0009972)4.99905588
27cytidine metabolic process (GO:0046087)4.99905588
28cytidine catabolic process (GO:0006216)4.99905588
29response to muscle activity (GO:0014850)4.99216309
30regulation of cell communication by electrical coupling (GO:0010649)4.98155598
31regulation of relaxation of muscle (GO:1901077)4.89253863
32glucan catabolic process (GO:0009251)4.87220548
33striated muscle hypertrophy (GO:0014897)4.87210662
34regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)4.86152604
35regulation of actin filament-based movement (GO:1903115)4.84286283
36striated muscle adaptation (GO:0014888)4.83342400
37negative regulation of potassium ion transmembrane transport (GO:1901380)4.69873105
38actomyosin structure organization (GO:0031032)4.60030307
39cellular polysaccharide catabolic process (GO:0044247)4.51682724
40fatty acid transmembrane transport (GO:1902001)4.43677164
41muscle hypertrophy (GO:0014896)4.39449110
42positive regulation of myotube differentiation (GO:0010831)4.36291034
43polysaccharide catabolic process (GO:0000272)4.36174436
44myotube differentiation (GO:0014902)4.33514356
45NADH metabolic process (GO:0006734)4.32222191
46myoblast fusion (GO:0007520)4.30840475
47muscle cell fate commitment (GO:0042693)4.26161406
48glycogen biosynthetic process (GO:0005978)4.18535051
49glucan biosynthetic process (GO:0009250)4.18535051
50skeletal muscle tissue development (GO:0007519)4.14544812
51purine nucleotide salvage (GO:0032261)4.14472382
52regulation of skeletal muscle cell differentiation (GO:2001014)4.12128564
53* muscle organ development (GO:0007517)4.06015065
54positive regulation of mitochondrial calcium ion concentration (GO:0051561)4.02674537
55muscle tissue morphogenesis (GO:0060415)4.02341572
56* muscle structure development (GO:0061061)3.99779578
57regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.93039363
58adult heart development (GO:0007512)3.92754063
59positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.90026794
60muscle adaptation (GO:0043500)3.87028352
61syncytium formation by plasma membrane fusion (GO:0000768)3.86226832
62striated muscle cell development (GO:0055002)3.82469532
63cardiac muscle tissue morphogenesis (GO:0055008)3.77726104
64syncytium formation (GO:0006949)3.76129003
65negative regulation of muscle hypertrophy (GO:0014741)3.73223879
66presynaptic membrane organization (GO:0097090)3.72943729
67cardiac muscle cell development (GO:0055013)3.71463929
68carnitine transmembrane transport (GO:1902603)3.69225416
69cardiac muscle contraction (GO:0060048)3.64217462
70regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.59866726
71glycogen metabolic process (GO:0005977)3.58665514
72cellular response to dexamethasone stimulus (GO:0071549)3.56086412
73striated muscle tissue development (GO:0014706)3.54988164
74regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.52328728
75regulation of acyl-CoA biosynthetic process (GO:0050812)3.52236256
762-oxoglutarate metabolic process (GO:0006103)3.51914418
77cellular glucan metabolic process (GO:0006073)3.51355238
78glucan metabolic process (GO:0044042)3.51355238
79fructose metabolic process (GO:0006000)3.50904939
80regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.50486126
81cardiac myofibril assembly (GO:0055003)3.45837212
82regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.45234376
83cardiac cell development (GO:0055006)3.44997075
84IMP metabolic process (GO:0046040)3.42103896
85negative regulation of phosphoprotein phosphatase activity (GO:0032515)3.41772670
86positive regulation of myoblast differentiation (GO:0045663)3.41006974
87regulation of myoblast differentiation (GO:0045661)3.39507741
88response to dexamethasone (GO:0071548)3.39378920
89negative regulation of muscle contraction (GO:0045932)3.38115884
90cardiac muscle adaptation (GO:0014887)3.37974466
91cardiac muscle hypertrophy in response to stress (GO:0014898)3.37974466
92muscle hypertrophy in response to stress (GO:0003299)3.37974466
93regulation of sarcomere organization (GO:0060297)3.37068825
94negative regulation of skeletal muscle tissue development (GO:0048642)3.37019126
95amino-acid betaine transport (GO:0015838)3.35779908
96carnitine transport (GO:0015879)3.35779908
97neuromuscular synaptic transmission (GO:0007274)3.35519166
98regulation of pseudopodium assembly (GO:0031272)3.35084799
99response to activity (GO:0014823)3.34553433
100muscle organ morphogenesis (GO:0048644)3.33599721
101negative regulation of calcium ion transmembrane transport (GO:1903170)3.32676199
102negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.32676199
103regulation of calcium ion transmembrane transporter activity (GO:1901019)3.32499006
104regulation of calcium ion transmembrane transport (GO:1903169)3.32499006
105muscle cell development (GO:0055001)3.29508184
106gluconeogenesis (GO:0006094)3.28561464
107positive regulation of microtubule polymerization (GO:0031116)3.27447579
108positive regulation of cation channel activity (GO:2001259)3.24987236
109relaxation of muscle (GO:0090075)3.17447886
110cytoplasmic microtubule organization (GO:0031122)3.17344990
111regulation of skeletal muscle fiber development (GO:0048742)3.16591717
112negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)3.14015563
113neuromuscular junction development (GO:0007528)3.10893659
114regulation of striated muscle contraction (GO:0006942)3.10597464
115regulation of cofactor metabolic process (GO:0051193)3.09760394
116regulation of coenzyme metabolic process (GO:0051196)3.09760394
117skeletal muscle cell differentiation (GO:0035914)3.01408510
118histone H3-K9 demethylation (GO:0033169)2.96951412
119negative regulation of protein localization to cell surface (GO:2000009)2.96032226
120regulation of p38MAPK cascade (GO:1900744)2.90983700
121negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.89718631
122regulation of myotube differentiation (GO:0010830)2.89018869
123regulation of muscle system process (GO:0090257)2.83736794
124* actin-myosin filament sliding (GO:0033275)13.5326359
125* muscle filament sliding (GO:0030049)13.5326359
126skeletal muscle contraction (GO:0003009)12.4437578
127regulation of skeletal muscle contraction (GO:0014819)11.6569329
128* actin-mediated cell contraction (GO:0070252)11.1424904
129sarcoplasmic reticulum calcium ion transport (GO:0070296)10.7035964

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human5.89124969
2RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.64827777
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.59507856
4ESR1_20079471_ChIP-ChIP_T-47D_Human3.31183728
5PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.14166677
6TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.59338362
7GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.48461069
8TBX20_22328084_ChIP-Seq_HEART_Mouse2.37132203
9TBX20_22080862_ChIP-Seq_HEART_Mouse2.37132203
10CDX2_19796622_ChIP-Seq_MESCs_Mouse2.29828729
11NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.21247919
12ESR1_21235772_ChIP-Seq_MCF-7_Human2.17383097
13RARG_19884340_ChIP-ChIP_MEFs_Mouse2.04399047
14ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.96874781
15EZH2_22144423_ChIP-Seq_EOC_Human1.94952765
16ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.85672356
17PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.85190448
18BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.81656530
19EP300_21415370_ChIP-Seq_HL-1_Mouse1.68751054
20ZNF263_19887448_ChIP-Seq_K562_Human1.67617548
21TP63_17297297_ChIP-ChIP_HaCaT_Human1.66405140
22ESR2_21235772_ChIP-Seq_MCF-7_Human1.66263543
23PPARA_22158963_ChIP-Seq_LIVER_Mouse1.63137466
24MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.59005312
25AR_21572438_ChIP-Seq_LNCaP_Human1.58241851
26STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.55039661
27THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.52819900
28SMAD_19615063_ChIP-ChIP_OVARY_Human1.51189740
29RBPJ_22232070_ChIP-Seq_NCS_Mouse1.48892447
30ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.48158849
31NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.47487109
32IGF1R_20145208_ChIP-Seq_DFB_Human1.46528299
33RXR_22158963_ChIP-Seq_LIVER_Mouse1.45539841
34ZNF274_21170338_ChIP-Seq_K562_Hela1.44868769
35TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.44554455
36* LXR_22158963_ChIP-Seq_LIVER_Mouse1.39854766
37PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.37578909
38SUZ12_27294783_Chip-Seq_NPCs_Mouse1.36592306
39CJUN_26792858_Chip-Seq_BT549_Human1.35483270
40EZH2_27294783_Chip-Seq_NPCs_Mouse1.32004661
41PCGF2_27294783_Chip-Seq_ESCs_Mouse1.29792771
42CRX_20693478_ChIP-Seq_RETINA_Mouse1.29773606
43* GBX2_23144817_ChIP-Seq_PC3_Human1.29710077
44DROSHA_22980978_ChIP-Seq_HELA_Human1.29623212
45FLI1_27457419_Chip-Seq_LIVER_Mouse1.28718227
46CTCF_27219007_Chip-Seq_Bcells_Human1.27513343
47ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.26129987
48PPAR_26484153_Chip-Seq_NCI-H1993_Human1.24565206
49OCT4_21477851_ChIP-Seq_ESCs_Mouse1.22959792
50CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.19718607
51CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.18982639
52CTCF_21964334_ChIP-Seq_BJAB-B_Human1.17914582
53DNAJC2_21179169_ChIP-ChIP_NT2_Human1.17074243
54RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.14476964
55PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.12106378
56BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.10548050
57ER_23166858_ChIP-Seq_MCF-7_Human1.10471721
58* IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.09842912
59* CBP_20019798_ChIP-Seq_JUKART_Human1.09842912
60AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.09489582
61CLOCK_20551151_ChIP-Seq_293T_Human1.09049435
62TDRD3_21172665_ChIP-Seq_MCF-7_Human1.08941328
63P63_26484246_Chip-Seq_KERATINOCYTES_Human1.07187202
64NFIB_24661679_ChIP-Seq_LUNG_Mouse1.06445377
65TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.06154730
66LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.06011397
67CBX2_27304074_Chip-Seq_ESCs_Mouse1.01228525
68P300_27058665_Chip-Seq_ZR-75-30cells_Human0.99848009
69GATA1_22025678_ChIP-Seq_K562_Human0.99669350
70EZH2_27294783_Chip-Seq_ESCs_Mouse0.98827063
71KLF5_20875108_ChIP-Seq_MESCs_Mouse0.98283998
72FOXA2_19822575_ChIP-Seq_HepG2_Human0.98030608
73FOXH1_21741376_ChIP-Seq_ESCs_Human0.97874952
74SOX2_21211035_ChIP-Seq_LN229_Gbm0.97753789
75NR3C1_23031785_ChIP-Seq_PC12_Mouse0.97308611
76RXR_22108803_ChIP-Seq_LS180_Human0.97275491
77SMC1_22415368_ChIP-Seq_MEFs_Mouse0.96184797
78SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.95956822
79KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.95131781
80ARNT_22903824_ChIP-Seq_MCF-7_Human0.95038172
81WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.94582762
82EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.93896422
83SMAD3_21741376_ChIP-Seq_HESCs_Human0.93842089
84SMAD4_21799915_ChIP-Seq_A2780_Human0.93721389
85POU3F2_20337985_ChIP-ChIP_501MEL_Human0.93593469
86EZH2_18974828_ChIP-Seq_MESCs_Mouse0.93341877
87RNF2_18974828_ChIP-Seq_MESCs_Mouse0.93341877
88SOX9_24532713_ChIP-Seq_HFSC_Mouse0.92258186
89EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.92093654
90KDM2B_26808549_Chip-Seq_DND41_Human0.91886662
91BCAT_22108803_ChIP-Seq_LS180_Human0.90915156
92TP53_18474530_ChIP-ChIP_U2OS_Human0.90700061
93NRF2_20460467_ChIP-Seq_MEFs_Mouse0.90183773
94NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.90183773
95CBP_21632823_ChIP-Seq_H3396_Human0.89985016
96P53_22127205_ChIP-Seq_FIBROBLAST_Human0.89639029
97CTNNB1_20460455_ChIP-Seq_HCT116_Human0.89570401
98SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.88537845
99TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.88354259
100VDR_22108803_ChIP-Seq_LS180_Human0.88166918
101CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.87783117
102OCT1_27270436_Chip-Seq_PROSTATE_Human0.87457069
103PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.87391292
104TRIM28_21343339_ChIP-Seq_HEK293_Human0.87184467
105NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.86299187
106HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.85460957
107KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.84785552
108SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.84756131
109SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.84520056
110GATA6_21074721_ChIP-Seq_CACO-2_Human0.84394681
111SMC3_22415368_ChIP-Seq_MEFs_Mouse0.83699810
112FLI1_21867929_ChIP-Seq_TH2_Mouse0.83647136
113GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.83629126
114CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.83234741
115GATA4_21415370_ChIP-Seq_HL-1_Mouse0.82740472
116SMAD4_21741376_ChIP-Seq_EPCs_Human0.82416918
117NR3C1_21868756_ChIP-Seq_MCF10A_Human0.82179070
118TP53_20018659_ChIP-ChIP_R1E_Mouse0.82040454
119GATA1_19941827_ChIP-Seq_MEL_Mouse0.81749907
120OCT4_20526341_ChIP-Seq_ESCs_Human0.81139773
121PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.80911575
122GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.80692888
123SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.80606545
124TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.80225124
125RARB_27405468_Chip-Seq_BRAIN_Mouse0.80075247
126MYC_27129775_Chip-Seq_CORNEA_Mouse0.80074815
127CREB1_26743006_Chip-Seq_LNCaP_Human0.80043178
128NFE2_27457419_Chip-Seq_LIVER_Mouse0.79836341
129AUTS2_25519132_ChIP-Seq_293T-REX_Human0.79794965
130CTCF_21964334_Chip-Seq_Bcells_Human0.79397355
131SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.79167334
132FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.78902207
133RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.78757969
134ZFP281_18757296_ChIP-ChIP_E14_Mouse0.78580743
135HTT_18923047_ChIP-ChIP_STHdh_Human0.78388103
136RACK7_27058665_Chip-Seq_MCF-7_Human0.78293925
137YAP1_20516196_ChIP-Seq_MESCs_Mouse0.78258170
138* NANOG_19829295_ChIP-Seq_ESCs_Human0.77979285
139* SOX2_19829295_ChIP-Seq_ESCs_Human0.77979285
140JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.77774756
141GATA1_19941827_ChIP-Seq_MEL86_Mouse0.77458226
142WT1_19549856_ChIP-ChIP_CCG9911_Human0.77377822
143GATA2_21186366_ChIP-Seq_BM-HSCs_Mouse0.77297530
144EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.77289110
145TOP2B_26459242_ChIP-Seq_MCF-7_Human0.76426621
146CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.76046442
147GF1_26923725_Chip-Seq_HPCs_Mouse0.75567682
148ISL1_27105846_Chip-Seq_CPCs_Mouse0.75005684
149FOXM1_26456572_ChIP-Seq_MCF-7_Human0.74252378

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio7.51354386
2MP0000749_muscle_degeneration6.60201228
3MP0000751_myopathy5.89731720
4MP0003646_muscle_fatigue5.21094835
5MP0002106_abnormal_muscle_physiology4.17552118
6* MP0000747_muscle_weakness4.09106002
7MP0000759_abnormal_skeletal_muscle3.84401631
8MP0005369_muscle_phenotype3.53402959
9MP0000750_abnormal_muscle_regeneration3.50020662
10MP0004130_abnormal_muscle_cell3.48787938
11* MP0004087_abnormal_muscle_fiber3.45220890
12MP0004036_abnormal_muscle_relaxation3.42946769
13MP0002269_muscular_atrophy3.41725863
14MP0002837_dystrophic_cardiac_calcinosis3.35810046
15MP0000733_abnormal_muscle_development3.23821572
16* MP0005620_abnormal_muscle_contractility2.81844727
17MP0002108_abnormal_muscle_morphology2.45274742
18MP0004233_abnormal_muscle_weight2.37372597
19MP0005330_cardiomyopathy2.12120407
20MP0002332_abnormal_exercise_endurance1.89100450
21MP0005275_abnormal_skin_tensile1.79028125
22MP0004270_analgesia1.77221612
23MP0003950_abnormal_plasma_membrane1.64211096
24MP0004084_abnormal_cardiac_muscle1.63639067
25MP0002971_abnormal_brown_adipose1.58680017
26MP0001661_extended_life_span1.55092900
27MP0004185_abnormal_adipocyte_glucose1.47440962
28MP0004484_altered_response_of1.39149655
29MP0004215_abnormal_myocardial_fiber1.38167414
30MP0006036_abnormal_mitochondrial_physio1.35011908
31MP0002972_abnormal_cardiac_muscle1.32927585
32MP0004134_abnormal_chest_morphology1.31466121
33MP0000013_abnormal_adipose_tissue1.29516377
34MP0005666_abnormal_adipose_tissue1.27784242
35MP0008438_abnormal_cutaneous_collagen1.23694168
36MP0010630_abnormal_cardiac_muscle1.23504806
37MP0003705_abnormal_hypodermis_morpholog1.06338327
38MP0003806_abnormal_nucleotide_metabolis1.05792541
39MP0005375_adipose_tissue_phenotype1.02836887
40MP0000372_irregular_coat_pigmentation0.96419050
41MP0002234_abnormal_pharynx_morphology0.93290207
42MP0002822_catalepsy0.88318281
43MP0004147_increased_porphyrin_level0.85903989
44MP0005266_abnormal_metabolism0.84531167
45MP0009250_abnormal_appendicular_skeleto0.84097813
46MP0005503_abnormal_tendon_morphology0.83938871
47MP0003221_abnormal_cardiomyocyte_apopto0.76614210
48MP0001299_abnormal_eye_distance/0.75703469
49MP0005248_abnormal_Harderian_gland0.73061341
50MP0000762_abnormal_tongue_morphology0.72478543
51MP0005171_absent_coat_pigmentation0.72244683
52MP0001544_abnormal_cardiovascular_syste0.71136239
53MP0005385_cardiovascular_system_phenoty0.71136239
54MP0003045_fibrosis0.70292779
55MP0000003_abnormal_adipose_tissue0.69774515
56MP0003137_abnormal_impulse_conducting0.69016843
57MP0005670_abnormal_white_adipose0.68535482
58MP0004085_abnormal_heartbeat0.68510068
59MP0005334_abnormal_fat_pad0.68203782
60MP0002896_abnormal_bone_mineralization0.65599949
61MP0003879_abnormal_hair_cell0.65377587
62MP0003303_peritoneal_inflammation0.64260697
63MP0004510_myositis0.63961104
64MP0001243_abnormal_dermal_layer0.61737034
65MP0003828_pulmonary_edema0.61416231
66MP0003385_abnormal_body_wall0.59724292
67MP0002127_abnormal_cardiovascular_syste0.55609491
68MP0006035_abnormal_mitochondrial_morpho0.54960926
69MP0002078_abnormal_glucose_homeostasis0.54124580
70MP0004142_abnormal_muscle_tone0.53225003
71MP0000266_abnormal_heart_morphology0.50733535
72MP0008775_abnormal_heart_ventricle0.50569187
73MP0000579_abnormal_nail_morphology0.50168017
74MP0004197_abnormal_fetal_growth/weight/0.49861573
75MP0002796_impaired_skin_barrier0.49622850
76MP0003656_abnormal_erythrocyte_physiolo0.47774691
77MP0004272_abnormal_basement_membrane0.46777665
78MP0002734_abnormal_mechanical_nocicepti0.45996055
79MP0002089_abnormal_postnatal_growth/wei0.45576494
80MP0008961_abnormal_basal_metabolism0.44984451
81MP0010352_gastrointestinal_tract_polyps0.44551821
82MP0009672_abnormal_birth_weight0.44210203
83MP0002060_abnormal_skin_morphology0.43246823
84MP0003300_gastrointestinal_ulcer0.43178029
85MP0005167_abnormal_blood-brain_barrier0.42451553
86MP0005187_abnormal_penis_morphology0.42335782
87MP0005423_abnormal_somatic_nervous0.40414606
88MP0005584_abnormal_enzyme/coenzyme_acti0.39000531
89MP0000427_abnormal_hair_cycle0.38913052
90MP0002638_abnormal_pupillary_reflex0.38650821
91* MP0002114_abnormal_axial_skeleton0.37379792
92MP0003948_abnormal_gas_homeostasis0.35618929
93MP0004043_abnormal_pH_regulation0.34887476
94MP0010030_abnormal_orbit_morphology0.34548269
95MP0005376_homeostasis/metabolism_phenot0.34441513
96MP0006276_abnormal_autonomic_nervous0.33887305
97* MP0005452_abnormal_adipose_tissue0.32856967
98MP0006138_congestive_heart_failure0.32780922
99MP0005083_abnormal_biliary_tract0.32131974
100MP0005319_abnormal_enzyme/_coenzyme0.31689537
101MP0002139_abnormal_hepatobiliary_system0.31682305
102MP0000343_altered_response_to0.31591168
103MP0002118_abnormal_lipid_homeostasis0.31138855
104MP0009115_abnormal_fat_cell0.31131591
105MP0000383_abnormal_hair_follicle0.31092802
106MP0005451_abnormal_body_composition0.29156614
107MP0005166_decreased_susceptibility_to0.28360995
108MP0000230_abnormal_systemic_arterial0.27934037
109MP0005165_increased_susceptibility_to0.27612602
110MP0003959_abnormal_lean_body0.27437012
111MP0009780_abnormal_chondrocyte_physiolo0.25649151
112MP0002876_abnormal_thyroid_physiology0.25589579
113MP0002128_abnormal_blood_circulation0.25569276
114MP0000377_abnormal_hair_follicle0.25305715
115MP0001943_abnormal_respiration0.25124564
116MP0005535_abnormal_body_temperature0.25086199
117MP0003941_abnormal_skin_development0.23399679
118MP0002177_abnormal_outer_ear0.23169923
119MP0003868_abnormal_feces_composition0.22886942
120MP0009703_decreased_birth_body0.20603255
121MP0002168_other_aberrant_phenotype0.18374646
122MP0005645_abnormal_hypothalamus_physiol0.17969928
123MP0005332_abnormal_amino_acid0.17289461
124* MP0002066_abnormal_motor_capabilities/c0.17224581
125MP0001346_abnormal_lacrimal_gland0.17128808
126MP0009697_abnormal_copulation0.15275190
127MP0008770_decreased_survivor_rate0.14799210

Predicted human phenotypes

RankGene SetZ-score
1* Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)9.95307208
2Distal arthrogryposis (HP:0005684)9.37823331
3* Nemaline bodies (HP:0003798)9.22335624
4* Type 1 muscle fiber predominance (HP:0003803)7.84203116
5Exercise-induced myalgia (HP:0003738)7.46116744
6Round ear (HP:0100830)6.72638303
7Ulnar deviation of the wrist (HP:0003049)6.37906212
8Exercise-induced muscle cramps (HP:0003710)6.32956778
9Muscle hypertrophy of the lower extremities (HP:0008968)6.02354265
10* Myopathic facies (HP:0002058)5.76598317
11Calf muscle hypertrophy (HP:0008981)5.67648320
12Calcaneovalgus deformity (HP:0001848)5.55434932
13Muscle fiber splitting (HP:0003555)5.46453038
14Deformed tarsal bones (HP:0008119)5.13704088
15Absent phalangeal crease (HP:0006109)5.04673968
16Difficulty running (HP:0009046)4.91825231
17Hyporeflexia of lower limbs (HP:0002600)4.72471276
18Increased connective tissue (HP:0009025)4.47305220
19Abnormality of the calf musculature (HP:0001430)4.31874058
20Abnormal finger flexion creases (HP:0006143)4.22615116
21* EMG: myopathic abnormalities (HP:0003458)4.12155193
22Malignant hyperthermia (HP:0002047)4.09348623
23Difficulty climbing stairs (HP:0003551)4.09216113
24Myoglobinuria (HP:0002913)4.08912823
25Abnormality of skeletal muscle fiber size (HP:0012084)4.05771760
26Muscle stiffness (HP:0003552)3.75851390
27Increased variability in muscle fiber diameter (HP:0003557)3.55024901
28Rimmed vacuoles (HP:0003805)3.42173123
29Fetal akinesia sequence (HP:0001989)3.38012669
30Myotonia (HP:0002486)3.37598020
31* Neck muscle weakness (HP:0000467)3.37034677
32Rhabdomyolysis (HP:0003201)3.36581245
33Abnormality of the calcaneus (HP:0008364)3.33550974
34Fatigable weakness (HP:0003473)3.20035558
35Abnormality of the neuromuscular junction (HP:0003398)3.20035558
36Abnormality of the left ventricular outflow tract (HP:0011103)3.10775878
37Subaortic stenosis (HP:0001682)3.10775878
38Bundle branch block (HP:0011710)3.00126066
39Shoulder girdle muscle weakness (HP:0003547)2.83226040
40Pelvic girdle muscle weakness (HP:0003749)2.82769927
41Metatarsus adductus (HP:0001840)2.80146334
42Areflexia of lower limbs (HP:0002522)2.78232206
43Abnormality of the hip-girdle musculature (HP:0001445)2.71484898
44Abnormality of the musculature of the pelvis (HP:0001469)2.71484898
45Gowers sign (HP:0003391)2.69454837
46Centrally nucleated skeletal muscle fibers (HP:0003687)2.67994612
47Weak cry (HP:0001612)2.67247749
48Limb-girdle muscle weakness (HP:0003325)2.65372621
49Sudden death (HP:0001699)2.62242994
50Distal lower limb muscle weakness (HP:0009053)2.57222730
51Muscular dystrophy (HP:0003560)2.53154309
52Hyperkalemia (HP:0002153)2.51599974
53Asymmetric septal hypertrophy (HP:0001670)2.50609156
54* Spinal rigidity (HP:0003306)2.47474224
55* Frequent falls (HP:0002359)2.42620049
56Dilated cardiomyopathy (HP:0001644)2.39283867
57Hip contracture (HP:0003273)2.39030089
58Ulnar deviation of finger (HP:0009465)2.38438769
59Scapular winging (HP:0003691)2.34334481
60Easy fatigability (HP:0003388)2.28192461
61Facial diplegia (HP:0001349)2.26155992
62Type 2 muscle fiber atrophy (HP:0003554)2.25878993
63* Mildly elevated creatine phosphokinase (HP:0008180)2.20077995
64Distal lower limb amyotrophy (HP:0008944)2.19212030
65Proximal amyotrophy (HP:0007126)2.18152381
66* Bulbar palsy (HP:0001283)2.16775160
67* Generalized muscle weakness (HP:0003324)2.15194997
68Hypoplastic ischia (HP:0003175)2.12130912
69Nonprogressive disorder (HP:0003680)2.09470796
70Abnormality of the shoulder girdle musculature (HP:0001435)2.08708363
71Popliteal pterygium (HP:0009756)2.08071616
72Trismus (HP:0000211)2.04108250
73* Muscle fiber inclusion bodies (HP:0100299)10.3073755
74Abnormality of the foot musculature (HP:0001436)1.99708484
75Muscle fiber atrophy (HP:0100295)1.99026324
76Progressive muscle weakness (HP:0003323)1.96018322
77* EMG: neuropathic changes (HP:0003445)1.92429942
78Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.91526946
79Foot dorsiflexor weakness (HP:0009027)1.89519557
80Limb-girdle muscle atrophy (HP:0003797)1.88963933
81* Slender build (HP:0001533)1.88467236
82Abnormality of the ischium (HP:0003174)1.87007827
83Paralysis (HP:0003470)1.84421763
84Oligomenorrhea (HP:0000876)1.82443989
85Heart block (HP:0012722)1.81136417
86Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.76427216
87Tarsal synostosis (HP:0008368)1.76367963
88Symphalangism affecting the phalanges of the hand (HP:0009773)1.74752839
89Long clavicles (HP:0000890)1.72767198
90Abnormal atrioventricular conduction (HP:0005150)1.70220324
91Amniotic constriction ring (HP:0009775)1.68933177
92Abnormality of placental membranes (HP:0011409)1.68933177
93Adducted thumb (HP:0001181)1.67658139
94* Waddling gait (HP:0002515)1.67365923
95Limited hip movement (HP:0008800)1.67117842
96Lower limb amyotrophy (HP:0007210)1.64440439
97Breech presentation (HP:0001623)1.63456838
98Steppage gait (HP:0003376)1.61525100
99Synostosis involving bones of the lower limbs (HP:0009138)1.59570076
100Synostosis involving bones of the feet (HP:0009140)1.59570076
101Achilles tendon contracture (HP:0001771)1.58114036
102* Respiratory insufficiency due to muscle weakness (HP:0002747)1.56397785
103Diaphragmatic weakness (HP:0009113)1.54640372
104Exercise intolerance (HP:0003546)1.52866238
105Insulin-resistant diabetes mellitus (HP:0000831)1.51338283
106Rocker bottom foot (HP:0001838)1.51269784
107Abnormality of the Achilles tendon (HP:0005109)1.46900923
108Congenital hip dislocation (HP:0001374)1.45835488
109Hypoalphalipoproteinemia (HP:0003233)1.45580838
110Ventricular tachycardia (HP:0004756)1.45250248
111Aplasia of the musculature (HP:0100854)1.42540617
112Lipoatrophy (HP:0100578)1.41921245

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TTN5.22691242
2PIK3CG4.74734960
3PHKG14.18342571
4PHKG24.18342571
5NME13.31251623
6MUSK2.58799215
7MAP2K32.24078669
8MAP3K72.12840131
9TRIB32.06723121
10OBSCN10.4371912
11PINK11.89261705
12DMPK1.76535856
13NEK11.56063417
14PDK31.50032159
15PDK41.50032159
16SIK11.47877478
17MAPK121.45920032
18PIK3CA1.29841558
19CCNB11.17970901
20MARK11.16147660
21MAP2K41.15575500
22CAMK1G1.02095741
23BCKDK1.00233681
24PDK20.95593486
25RIPK10.95546972
26ZAK0.95420638
27MAP2K60.93966965
28MAPKAPK30.87769697
29MOS0.82810014
30AKT20.82163823
31PRKAA10.81056305
32NEK90.78732670
33PRKAA20.76925062
34CAMK2G0.75975545
35PNCK0.75868832
36TRPM70.74337238
37MAP3K30.70013204
38EPHB10.68189909
39MAPK110.64428700
40MAP3K130.63352669
41FGFR40.61102012
42PKN20.60851134
43LATS10.60199807
44CAMK40.58627360
45INSRR0.58095706
46EEF2K0.53028783
47FER0.49363089
48CAMK2D0.48577064
49TAOK20.47497686
50ERBB30.43564795
51PRKG10.42164153
52CAMK10.41357367
53ROCK10.41178234
54MAP2K10.40266694
55SGK10.38469535
56CAMK2B0.38422500
57ILK0.37708166
58PTK60.37273141
59SGK30.36611519
60CAMK1D0.34198293
61CSNK1A1L0.33893569
62FGFR30.33630877
63CAMK2A0.33609247
64ICK0.30622669
65NLK0.30384970
66LATS20.29129326
67PKN10.26518029
68PRKACB0.26280905
69MAPK130.25786063
70MAPK70.25443340
71RPS6KA30.24953792
72MAP3K100.24921204
73MTOR0.24636942
74MAP3K10.24480404
75FGFR10.24407844
76TBK10.24015760
77JAK10.23609610
78SGK20.23508412
79TAOK10.23392504
80MAP3K50.22578070
81STK110.22303776
82MAPK100.21228125
83RPS6KA10.21192445
84MAPK40.20951396
85RPS6KB10.20366469
86ERBB40.20044957
87CSNK1G20.19589188
88LIMK10.19391935
89SGK2230.19047752
90SGK4940.19047752
91CSNK1D0.18682606
92STK240.18553685
93ROCK20.18324485
94TIE10.17848065
95PRKACA0.17686239
96PDGFRA0.17278905
97CSNK1G10.16524055
98EPHA30.16273898
99CDK90.16025647
100KSR10.15908692
101DAPK20.15720457
102MARK20.14003497
103PRKD10.13269751
104MARK30.13124369
105TGFBR20.12670574
106PAK60.12531601
107CSNK1G30.12224255
108PDPK10.12084496
109CDK60.11607808
110MAP3K110.11281333
111MST1R0.11080138
112TNIK0.10744131
113WNK10.10690719
114MAPK80.10461809
115PRKACG0.09379591
116DDR20.09245614
117ZAP700.08921212
118RPS6KB20.08754545
119KSR20.08722798
120DYRK1B0.08091571
121MAP3K60.08077468
122PDK10.08035753
123PTK2B0.06511007
124RAF10.06226509
125PRKG20.05835442
126CDK190.04305717
127MAP3K40.03830824
128GSK3B0.03726615
129PRKDC0.03668426
130RPS6KL10.03340416
131RPS6KC10.03340416
132RPS6KA60.02301226
133MAPK90.01497532

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.45595497
2Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.95758887
3Dilated cardiomyopathy_Homo sapiens_hsa054143.80267301
4Cardiac muscle contraction_Homo sapiens_hsa042603.31190737
5Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.19294697
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.76642920
7Starch and sucrose metabolism_Homo sapiens_hsa005002.73572769
8Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.22638999
9Propanoate metabolism_Homo sapiens_hsa006402.11700210
10Glucagon signaling pathway_Homo sapiens_hsa049222.10145913
11Insulin signaling pathway_Homo sapiens_hsa049102.05870995
12Circadian rhythm_Homo sapiens_hsa047102.01233131
13Oxytocin signaling pathway_Homo sapiens_hsa049212.01093341
14Insulin resistance_Homo sapiens_hsa049311.98356237
15Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.85100721
16Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.74865670
17Viral myocarditis_Homo sapiens_hsa054161.72763418
18Fatty acid degradation_Homo sapiens_hsa000711.71351881
19Tight junction_Homo sapiens_hsa045301.68579919
20Sulfur metabolism_Homo sapiens_hsa009201.64354546
21Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.64079381
22Adipocytokine signaling pathway_Homo sapiens_hsa049201.62280721
23Carbon metabolism_Homo sapiens_hsa012001.61608364
24Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.52169435
25AMPK signaling pathway_Homo sapiens_hsa041521.50255143
26Focal adhesion_Homo sapiens_hsa045101.35022571
27Calcium signaling pathway_Homo sapiens_hsa040201.34697022
28Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.33042795
29cGMP-PKG signaling pathway_Homo sapiens_hsa040221.33001190
30Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.30787684
31Fatty acid metabolism_Homo sapiens_hsa012121.19533893
32Biosynthesis of amino acids_Homo sapiens_hsa012301.12068339
33Vascular smooth muscle contraction_Homo sapiens_hsa042701.10392368
34Arginine biosynthesis_Homo sapiens_hsa002201.09104852
35Pyruvate metabolism_Homo sapiens_hsa006201.03135971
36Fatty acid biosynthesis_Homo sapiens_hsa000610.98069878
37Galactose metabolism_Homo sapiens_hsa000520.97775906
38Gastric acid secretion_Homo sapiens_hsa049710.97093707
39Arginine and proline metabolism_Homo sapiens_hsa003300.96643468
40FoxO signaling pathway_Homo sapiens_hsa040680.95236224
41PPAR signaling pathway_Homo sapiens_hsa033200.94095322
42Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.92947788
43Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.92027607
44Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.89706780
45Longevity regulating pathway - mammal_Homo sapiens_hsa042110.89461401
46Insulin secretion_Homo sapiens_hsa049110.83977257
47Selenocompound metabolism_Homo sapiens_hsa004500.82187715
48Renin secretion_Homo sapiens_hsa049240.80249592
49Fructose and mannose metabolism_Homo sapiens_hsa000510.76313736
50Bile secretion_Homo sapiens_hsa049760.75984784
51ECM-receptor interaction_Homo sapiens_hsa045120.75548801
52GnRH signaling pathway_Homo sapiens_hsa049120.75380517
53mTOR signaling pathway_Homo sapiens_hsa041500.74171793
54Central carbon metabolism in cancer_Homo sapiens_hsa052300.72326305
55MAPK signaling pathway_Homo sapiens_hsa040100.70853910
56Adherens junction_Homo sapiens_hsa045200.70636481
57Nitrogen metabolism_Homo sapiens_hsa009100.69906185
58Amoebiasis_Homo sapiens_hsa051460.69850612
59Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.69571046
60beta-Alanine metabolism_Homo sapiens_hsa004100.67850016
61Long-term potentiation_Homo sapiens_hsa047200.66205609
62Oxidative phosphorylation_Homo sapiens_hsa001900.66192676
63Alzheimers disease_Homo sapiens_hsa050100.64737420
64Carbohydrate digestion and absorption_Homo sapiens_hsa049730.63732963
65Proteoglycans in cancer_Homo sapiens_hsa052050.62306722
66Platelet activation_Homo sapiens_hsa046110.59733427
67Protein digestion and absorption_Homo sapiens_hsa049740.56538559
68Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.55615666
69Regulation of actin cytoskeleton_Homo sapiens_hsa048100.54385886
70Tryptophan metabolism_Homo sapiens_hsa003800.53077613
71Salivary secretion_Homo sapiens_hsa049700.52540594
72HIF-1 signaling pathway_Homo sapiens_hsa040660.51200079
73Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.49066410
74Long-term depression_Homo sapiens_hsa047300.48272177
75Primary bile acid biosynthesis_Homo sapiens_hsa001200.47302102
76Regulation of autophagy_Homo sapiens_hsa041400.46879936
77Butanoate metabolism_Homo sapiens_hsa006500.45770415
78VEGF signaling pathway_Homo sapiens_hsa043700.44375117
79Lysine degradation_Homo sapiens_hsa003100.43609810
80Type II diabetes mellitus_Homo sapiens_hsa049300.42966514
81Phenylalanine metabolism_Homo sapiens_hsa003600.41991466
82Pentose phosphate pathway_Homo sapiens_hsa000300.41667400
83ABC transporters_Homo sapiens_hsa020100.41595976
84Huntingtons disease_Homo sapiens_hsa050160.41400644
85Leukocyte transendothelial migration_Homo sapiens_hsa046700.40160716
86Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.38821051
87Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.37949451
88Glioma_Homo sapiens_hsa052140.37914672
89Parkinsons disease_Homo sapiens_hsa050120.37238367
90Thyroid hormone signaling pathway_Homo sapiens_hsa049190.36120386
91Cholinergic synapse_Homo sapiens_hsa047250.32621809
92Basal cell carcinoma_Homo sapiens_hsa052170.32486447
93Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.28309545
94Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.26719220
95Circadian entrainment_Homo sapiens_hsa047130.26239173
96Peroxisome_Homo sapiens_hsa041460.26230791
97Endometrial cancer_Homo sapiens_hsa052130.26075508
98Tyrosine metabolism_Homo sapiens_hsa003500.25965526
99Aldosterone synthesis and secretion_Homo sapiens_hsa049250.24932980
100Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.24490213
101cAMP signaling pathway_Homo sapiens_hsa040240.24219110
102Pancreatic secretion_Homo sapiens_hsa049720.23104326
103Phototransduction_Homo sapiens_hsa047440.22094461
104Histidine metabolism_Homo sapiens_hsa003400.20077884
105alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.20060379
106Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.17710188
107Fatty acid elongation_Homo sapiens_hsa000620.16597114
108Fat digestion and absorption_Homo sapiens_hsa049750.16468754
109Renal cell carcinoma_Homo sapiens_hsa052110.16378545
110Neurotrophin signaling pathway_Homo sapiens_hsa047220.15865510
111Purine metabolism_Homo sapiens_hsa002300.15674050
112Dorso-ventral axis formation_Homo sapiens_hsa043200.15566247
113Acute myeloid leukemia_Homo sapiens_hsa052210.15548870
114Olfactory transduction_Homo sapiens_hsa047400.15239292
115Linoleic acid metabolism_Homo sapiens_hsa005910.12755344
116AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.11053072

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