CA3

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: Carbonic anhydrase III (CAIII) is a member of a multigene family (at least six separate genes are known) that encodes carbonic anhydrase isozymes. These carbonic anhydrases are a class of metalloenzymes that catalyze the reversible hydration of carbon dioxide and are differentially expressed in a number of cell types. The expression of the CA3 gene is strictly tissue specific and present at high levels in skeletal muscle and much lower levels in cardiac and smooth muscle. A proportion of carriers of Duchenne muscle dystrophy have a higher CA3 level than normal. The gene spans 10.3 kb and contains seven exons and six introns. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1actin filament-based movement (GO:0030048)8.16845302
2regulation of relaxation of muscle (GO:1901077)8.08211572
3myofibril assembly (GO:0030239)7.67236000
4striated muscle contraction (GO:0006941)7.65815134
5sarcomere organization (GO:0045214)7.15366970
6response to stimulus involved in regulation of muscle adaptation (GO:0014874)7.08792218
7response to muscle activity (GO:0014850)7.07769362
8creatine metabolic process (GO:0006600)7.00962702
9skeletal muscle adaptation (GO:0043501)6.85560350
10positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)6.81685985
11skeletal muscle fiber development (GO:0048741)6.80790904
12response to inactivity (GO:0014854)6.52887996
13regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)6.28453902
14myotube cell development (GO:0014904)6.19151511
15plasma membrane repair (GO:0001778)5.95478545
16muscle contraction (GO:0006936)5.86239291
17cardiac myofibril assembly (GO:0055003)5.71769102
18actomyosin structure organization (GO:0031032)5.51282833
19glycogen catabolic process (GO:0005980)5.43491974
20cardiac muscle contraction (GO:0060048)5.30393110
21muscle system process (GO:0003012)5.26304134
22negative regulation of potassium ion transmembrane transporter activity (GO:1901017)5.16352465
23glucan catabolic process (GO:0009251)5.11402644
24glycogen biosynthetic process (GO:0005978)5.06776517
25glucan biosynthetic process (GO:0009250)5.06776517
26muscle fiber development (GO:0048747)5.03741520
27regulation of cell communication by electrical coupling (GO:0010649)5.02975657
28muscle cell fate commitment (GO:0042693)5.02944248
29skeletal muscle tissue development (GO:0007519)5.00845303
30regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.95579691
31striated muscle adaptation (GO:0014888)4.89502116
32striated muscle hypertrophy (GO:0014897)4.82938624
33cellular polysaccharide catabolic process (GO:0044247)4.79510719
34skeletal muscle tissue regeneration (GO:0043403)4.73946341
35regulation of actin filament-based movement (GO:1903115)4.69117251
36NADH metabolic process (GO:0006734)4.68409585
37negative regulation of potassium ion transmembrane transport (GO:1901380)4.51720930
38cardiac muscle hypertrophy (GO:0003300)4.51440723
39muscle cell cellular homeostasis (GO:0046716)4.45725754
40muscle hypertrophy (GO:0014896)4.32641500
41polysaccharide catabolic process (GO:0000272)4.32128699
42positive regulation of myotube differentiation (GO:0010831)4.24957552
43striated muscle atrophy (GO:0014891)4.08033714
44muscle structure development (GO:0061061)4.06496290
45muscle organ development (GO:0007517)4.06095706
46glycogen metabolic process (GO:0005977)4.02656621
47fructose metabolic process (GO:0006000)3.97637461
48glucan metabolic process (GO:0044042)3.94842256
49cellular glucan metabolic process (GO:0006073)3.94842256
50muscle adaptation (GO:0043500)3.94675143
51otic vesicle formation (GO:0030916)3.92022498
52striated muscle cell development (GO:0055002)3.91794549
53muscle tissue morphogenesis (GO:0060415)3.89176902
54regulation of striated muscle contraction (GO:0006942)3.86789942
55myoblast fusion (GO:0007520)3.85085892
562-oxoglutarate metabolic process (GO:0006103)3.84161321
57muscle organ morphogenesis (GO:0048644)3.79991785
58regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.78565554
59response to activity (GO:0014823)3.75048999
60gluconeogenesis (GO:0006094)3.73771753
61muscle atrophy (GO:0014889)3.66682881
62regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.66617296
63cardiac muscle tissue morphogenesis (GO:0055008)3.66457833
64positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.63954576
65regulation of myoblast differentiation (GO:0045661)3.63661175
66adult heart development (GO:0007512)3.62729954
67regulation of calcium ion transmembrane transporter activity (GO:1901019)3.62459975
68regulation of calcium ion transmembrane transport (GO:1903169)3.62459975
69regulation of skeletal muscle cell differentiation (GO:2001014)3.61970878
70myotube differentiation (GO:0014902)3.55316345
71negative regulation of calcium ion transmembrane transport (GO:1903170)3.54860532
72negative regulation of calcium ion transmembrane transporter activity (GO:1901020)3.54860532
73cardiac muscle cell development (GO:0055013)3.53984687
74carnitine shuttle (GO:0006853)3.52236545
75tricarboxylic acid cycle (GO:0006099)3.50109073
76negative regulation of muscle contraction (GO:0045932)3.48757921
77positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.47861497
78positive regulation of myoblast differentiation (GO:0045663)3.41938466
79muscle cell development (GO:0055001)3.41371481
80striated muscle tissue development (GO:0014706)3.39457081
81syncytium formation by plasma membrane fusion (GO:0000768)3.36951355
82hexose biosynthetic process (GO:0019319)3.34355605
83IMP metabolic process (GO:0046040)3.34342620
84regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.31134554
85cardiac cell development (GO:0055006)3.28093023
86regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.26899419
87cardiac muscle adaptation (GO:0014887)3.22359679
88cardiac muscle hypertrophy in response to stress (GO:0014898)3.22359679
89muscle hypertrophy in response to stress (GO:0003299)3.22359679
90negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.16671007
91regulation of myotube differentiation (GO:0010830)3.14409954
92regulation of muscle system process (GO:0090257)3.13911790
93relaxation of muscle (GO:0090075)3.13531012
94regulation of the force of heart contraction (GO:0002026)3.11890410
95actin-myosin filament sliding (GO:0033275)13.3084503
96muscle filament sliding (GO:0030049)13.3084503
97sarcoplasmic reticulum calcium ion transport (GO:0070296)11.3775540
98skeletal muscle contraction (GO:0003009)10.9827108
99actin-mediated cell contraction (GO:0070252)10.9510448
100regulation of skeletal muscle contraction (GO:0014819)10.2306527

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human7.73234220
2EZH2_22144423_ChIP-Seq_EOC_Human4.79467704
3TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse4.06191847
4RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse3.50014753
5PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse3.28755899
6ESR1_20079471_ChIP-ChIP_T-47D_Human3.03156099
7TBX20_22328084_ChIP-Seq_HEART_Mouse2.91787650
8TBX20_22080862_ChIP-Seq_HEART_Mouse2.91787650
9CDX2_19796622_ChIP-Seq_MESCs_Mouse2.66425750
10ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.56294977
11EP300_21415370_ChIP-Seq_HL-1_Mouse2.44177071
12PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.41369034
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.33903676
14PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse2.22420124
15MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.18796364
16BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.16661850
17CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human2.06147171
18GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.85706534
19THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.77359769
20ESR2_21235772_ChIP-Seq_MCF-7_Human1.66137042
21NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.65859819
22GATA4_21415370_ChIP-Seq_HL-1_Mouse1.62027349
23RARG_19884340_ChIP-ChIP_MEFs_Mouse1.58916675
24EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.51533460
25CTCF_27219007_Chip-Seq_Bcells_Human1.49932351
26NFIB_24661679_ChIP-Seq_LUNG_Mouse1.47508838
27ZNF263_19887448_ChIP-Seq_K562_Human1.47218116
28ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.43975578
29TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.40443015
30TRIM28_21343339_ChIP-Seq_HEK293_Human1.35842918
31AR_21572438_ChIP-Seq_LNCaP_Human1.33403387
32RBPJ_22232070_ChIP-Seq_NCS_Mouse1.33173667
33NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.28296532
34DROSHA_22980978_ChIP-Seq_HELA_Human1.24530777
35ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.24041400
36SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.20455629
37STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.15756185
38EZH2_27294783_Chip-Seq_ESCs_Mouse1.11719128
39SMC3_22415368_ChIP-Seq_MEFs_Mouse1.10246107
40* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.10108104
41SUZ12_27294783_Chip-Seq_NPCs_Mouse1.09889965
42IGF1R_20145208_ChIP-Seq_DFB_Human1.08108656
43ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.06529857
44CLOCK_20551151_ChIP-Seq_293T_Human1.05467032
45CTCF_21964334_ChIP-Seq_BJAB-B_Human1.05402451
46SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.03508951
47RARB_27405468_Chip-Seq_BRAIN_Mouse1.02511432
48LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.02126354
49ESR1_21235772_ChIP-Seq_MCF-7_Human1.01525229
50CRX_20693478_ChIP-Seq_RETINA_Mouse1.01093908
51STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.00648672
52CBX2_27304074_Chip-Seq_ESCs_Mouse0.99095969
53CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.97854437
54MYC_27129775_Chip-Seq_CORNEA_Mouse0.97739156
55CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.97286252
56EZH2_27294783_Chip-Seq_NPCs_Mouse0.97243548
57EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.96883149
58PPARA_22158963_ChIP-Seq_LIVER_Mouse0.96268653
59SA1_27219007_Chip-Seq_Bcells_Human0.95912363
60GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.95354585
61RXR_22158963_ChIP-Seq_LIVER_Mouse0.95030878
62SPI1_20517297_ChIP-Seq_HL60_Human0.94474617
63GATA1_19941827_ChIP-Seq_MEL_Mouse0.94451482
64OCT4_21477851_ChIP-Seq_ESCs_Mouse0.94295975
65PCGF2_27294783_Chip-Seq_ESCs_Mouse0.94257264
66NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.91087297
67EGR1_19032775_ChIP-ChIP_M12_Human0.90784084
68RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.90500746
69NRF2_20460467_ChIP-Seq_MEFs_Mouse0.89123826
70NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.89123826
71LXR_22158963_ChIP-Seq_LIVER_Mouse0.89057845
72PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.89026443
73P53_22127205_ChIP-Seq_FIBROBLAST_Human0.87685393
74MTF2_20144788_ChIP-Seq_MESCs_Mouse0.87206222
75GBX2_23144817_ChIP-Seq_PC3_Human0.85746635
76FLI1_27457419_Chip-Seq_LIVER_Mouse0.85281410
77CTCF_21964334_Chip-Seq_Bcells_Human0.84913428
78TP53_20018659_ChIP-ChIP_R1E_Mouse0.84446412
79SOX2_21211035_ChIP-Seq_LN229_Gbm0.84062140
80OCT4_20526341_ChIP-Seq_ESCs_Human0.83968351
81DNAJC2_21179169_ChIP-ChIP_NT2_Human0.83930699
82FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.83178660
83SMAD3_21741376_ChIP-Seq_HESCs_Human0.81703850
84ZFP281_18757296_ChIP-ChIP_E14_Mouse0.81020512
85HTT_18923047_ChIP-ChIP_STHdh_Human0.78927066
86JARID2_20075857_ChIP-Seq_MESCs_Mouse0.78113785
87ERG_21242973_ChIP-ChIP_JURKAT_Human0.77174100
88MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.76802189
89PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.76201118
90CTCF_27219007_Chip-Seq_ERYTHROID_Human0.74984187
91SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.74153127
92KDM2B_26808549_Chip-Seq_DND41_Human0.74027897
93SMC1_22415368_ChIP-Seq_MEFs_Mouse0.73964628
94MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.73147311
95GATA6_21074721_ChIP-Seq_CACO-2_Human0.72775439
96TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.72490385
97HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.71933106
98RNF2_18974828_ChIP-Seq_MESCs_Mouse0.71897574
99EZH2_18974828_ChIP-Seq_MESCs_Mouse0.71897574
100KLF5_20875108_ChIP-Seq_MESCs_Mouse0.71528484

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004145_abnormal_muscle_electrophysio6.93720428
2MP0003646_muscle_fatigue6.78133040
3MP0000751_myopathy6.08898706
4MP0000749_muscle_degeneration5.98108849
5MP0004036_abnormal_muscle_relaxation4.26114659
6MP0002106_abnormal_muscle_physiology3.81863939
7MP0000747_muscle_weakness3.64045394
8MP0004087_abnormal_muscle_fiber3.58734089
9MP0000759_abnormal_skeletal_muscle3.56709175
10MP0005451_abnormal_body_composition3.33818598
11MP0005369_muscle_phenotype3.26155548
12MP0002332_abnormal_exercise_endurance3.10643971
13MP0002269_muscular_atrophy3.06085478
14MP0004084_abnormal_cardiac_muscle3.03899074
15MP0000750_abnormal_muscle_regeneration3.00740515
16MP0005620_abnormal_muscle_contractility2.87237133
17MP0004130_abnormal_muscle_cell2.85752861
18MP0004233_abnormal_muscle_weight2.83806807
19MP0005330_cardiomyopathy2.63908984
20MP0000733_abnormal_muscle_development2.33322315
21MP0002108_abnormal_muscle_morphology2.12719863
22MP0002972_abnormal_cardiac_muscle2.08970846
23MP0002837_dystrophic_cardiac_calcinosis1.98979797
24MP0006036_abnormal_mitochondrial_physio1.87083737
25MP0004215_abnormal_myocardial_fiber1.75466331
26MP0000013_abnormal_adipose_tissue1.73411098
27MP0004484_altered_response_of1.71654447
28MP0004270_analgesia1.63148044
29MP0010630_abnormal_cardiac_muscle1.58213164
30MP0001661_extended_life_span1.46877420
31MP0004510_myositis1.43273282
32MP0005266_abnormal_metabolism1.42908291
33MP0002127_abnormal_cardiovascular_syste1.40929119
34MP0006138_congestive_heart_failure1.28543373
35MP0005385_cardiovascular_system_phenoty1.28103708
36MP0001544_abnormal_cardiovascular_syste1.28103708
37MP0003950_abnormal_plasma_membrane1.19718890
38MP0002971_abnormal_brown_adipose1.14145016
39MP0003221_abnormal_cardiomyocyte_apopto1.11191688
40MP0004185_abnormal_adipocyte_glucose0.98436569
41MP0002822_catalepsy0.92526387
42MP0005375_adipose_tissue_phenotype0.90186045
43MP0000003_abnormal_adipose_tissue0.89864946
44MP0003137_abnormal_impulse_conducting0.86313562
45MP0005666_abnormal_adipose_tissue0.85656846
46MP0008775_abnormal_heart_ventricle0.79987777
47MP0010030_abnormal_orbit_morphology0.76258308
48MP0003879_abnormal_hair_cell0.75711135
49MP0005670_abnormal_white_adipose0.71315589
50MP0003045_fibrosis0.71051641
51MP0009780_abnormal_chondrocyte_physiolo0.70231413
52MP0004085_abnormal_heartbeat0.69655485
53MP0004147_increased_porphyrin_level0.67456649
54MP0003828_pulmonary_edema0.66049966
55MP0001299_abnormal_eye_distance/0.63578868
56MP0004043_abnormal_pH_regulation0.61529994
57MP0000266_abnormal_heart_morphology0.61505695
58MP0000372_irregular_coat_pigmentation0.59156206
59MP0004134_abnormal_chest_morphology0.56597315
60MP0005377_hearing/vestibular/ear_phenot0.56187532
61MP0003878_abnormal_ear_physiology0.56187532
62MP0003656_abnormal_erythrocyte_physiolo0.53705490
63MP0009250_abnormal_appendicular_skeleto0.49233516
64MP0002078_abnormal_glucose_homeostasis0.47166350
65MP0009672_abnormal_birth_weight0.46504858
66MP0000762_abnormal_tongue_morphology0.44741820
67MP0001346_abnormal_lacrimal_gland0.43554572
68MP0002128_abnormal_blood_circulation0.41024350
69MP0005083_abnormal_biliary_tract0.40863862
70MP0004142_abnormal_muscle_tone0.39983730
71MP0008569_lethality_at_weaning0.39307030
72MP0002114_abnormal_axial_skeleton0.38605055
73MP0005584_abnormal_enzyme/coenzyme_acti0.37901268
74MP0005376_homeostasis/metabolism_phenot0.35877923
75MP0005248_abnormal_Harderian_gland0.35265372
76MP0005167_abnormal_blood-brain_barrier0.33908319
77MP0005535_abnormal_body_temperature0.33642025
78MP0000230_abnormal_systemic_arterial0.32799571
79MP0003948_abnormal_gas_homeostasis0.32401773
80MP0005166_decreased_susceptibility_to0.32397914
81MP0005452_abnormal_adipose_tissue0.32013442
82MP0002638_abnormal_pupillary_reflex0.30562736
83MP0002734_abnormal_mechanical_nocicepti0.30360203
84MP0002102_abnormal_ear_morphology0.29791130
85MP0002896_abnormal_bone_mineralization0.29059949
86MP0005332_abnormal_amino_acid0.28306464
87MP0005334_abnormal_fat_pad0.24776319
88MP0001943_abnormal_respiration0.23970744
89MP0005319_abnormal_enzyme/_coenzyme0.23116369
90MP0005165_increased_susceptibility_to0.22935494
91MP0006276_abnormal_autonomic_nervous0.21806953
92MP0002249_abnormal_larynx_morphology0.21187900
93MP0003941_abnormal_skin_development0.21153868
94MP0005187_abnormal_penis_morphology0.18984422
95MP0000579_abnormal_nail_morphology0.18675517
96MP0002066_abnormal_motor_capabilities/c0.18670144
97MP0006035_abnormal_mitochondrial_morpho0.18429003
98MP0005257_abnormal_intraocular_pressure0.18365340
99MP0004197_abnormal_fetal_growth/weight/0.17778140
100MP0002277_abnormal_respiratory_mucosa0.17601812

Predicted human phenotypes

RankGene SetZ-score
1Type 1 muscle fiber predominance (HP:0003803)8.36185033
2Exercise-induced myalgia (HP:0003738)8.02190310
3Exercise-induced muscle cramps (HP:0003710)7.34711380
4Distal arthrogryposis (HP:0005684)7.14830893
5Muscle hypertrophy of the lower extremities (HP:0008968)6.06132149
6Myopathic facies (HP:0002058)5.83868877
7Round ear (HP:0100830)5.56327178
8Calf muscle hypertrophy (HP:0008981)5.50530234
9Ulnar deviation of the wrist (HP:0003049)5.26337938
10EMG: myopathic abnormalities (HP:0003458)5.22228787
11Muscle fiber splitting (HP:0003555)4.89966588
12Rhabdomyolysis (HP:0003201)4.68468208
13Calcaneovalgus deformity (HP:0001848)4.64628097
14Myoglobinuria (HP:0002913)4.59699984
15Centrally nucleated skeletal muscle fibers (HP:0003687)4.56741570
16Hyporeflexia of lower limbs (HP:0002600)4.55004838
17Abnormality of the calf musculature (HP:0001430)4.53441156
18Neck muscle weakness (HP:0000467)4.47275203
19Absent phalangeal crease (HP:0006109)4.26323036
20Rimmed vacuoles (HP:0003805)4.24002596
21Abnormality of skeletal muscle fiber size (HP:0012084)4.18497760
22Deformed tarsal bones (HP:0008119)4.13669938
23Difficulty running (HP:0009046)3.95631285
24Subaortic stenosis (HP:0001682)3.92232696
25Abnormality of the left ventricular outflow tract (HP:0011103)3.92232696
26Increased connective tissue (HP:0009025)3.67045552
27Muscle stiffness (HP:0003552)3.61620434
28Malignant hyperthermia (HP:0002047)3.55229558
29Abnormal finger flexion creases (HP:0006143)3.54667893
30Increased variability in muscle fiber diameter (HP:0003557)3.48176442
31Frequent falls (HP:0002359)3.40710510
32Distal lower limb muscle weakness (HP:0009053)3.32032653
33Myotonia (HP:0002486)3.23276924
34Fetal akinesia sequence (HP:0001989)3.19708002
35Asymmetric septal hypertrophy (HP:0001670)3.16941532
36Areflexia of lower limbs (HP:0002522)3.12182665
37Sudden death (HP:0001699)3.08548864
38EMG: neuropathic changes (HP:0003445)2.91888635
39Generalized muscle weakness (HP:0003324)2.90588428
40Mildly elevated creatine phosphokinase (HP:0008180)2.82523916
41Abnormality of the calcaneus (HP:0008364)2.72611591
42Bundle branch block (HP:0011710)2.70955051
43Bulbar palsy (HP:0001283)2.64814219
44Slender build (HP:0001533)2.60060606
45Distal lower limb amyotrophy (HP:0008944)2.57586396
46Hyperkalemia (HP:0002153)2.50155001
47Weak cry (HP:0001612)2.49900162
48Gowers sign (HP:0003391)2.42935311
49Abnormality of the neuromuscular junction (HP:0003398)2.37809986
50Fatigable weakness (HP:0003473)2.37809986
51Hip contracture (HP:0003273)2.37669797
52Scapular winging (HP:0003691)2.37018028
53Limb-girdle muscle atrophy (HP:0003797)2.29952401
54Spinal rigidity (HP:0003306)2.28940387
55Dilated cardiomyopathy (HP:0001644)2.28761682
56Popliteal pterygium (HP:0009756)2.18319859
57Ventricular tachycardia (HP:0004756)2.17334390
58Progressive muscle weakness (HP:0003323)2.15938365
59Difficulty climbing stairs (HP:0003551)2.09938326
60Muscular dystrophy (HP:0003560)2.07082632
61Waddling gait (HP:0002515)2.05678721
62Lipoatrophy (HP:0100578)2.02686705
63Proximal amyotrophy (HP:0007126)2.02523873
64Metatarsus adductus (HP:0001840)2.01805397
65Muscle fiber inclusion bodies (HP:0100299)11.3037813
66Nemaline bodies (HP:0003798)11.2837024
67Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)10.9956374
68Lower limb amyotrophy (HP:0007210)1.95949077
69Long clavicles (HP:0000890)1.94996930
70Nonprogressive disorder (HP:0003680)1.93019259
71Abnormality of the foot musculature (HP:0001436)1.92704594
72Abnormality of the shoulder girdle musculature (HP:0001435)1.90535311
73Respiratory insufficiency due to muscle weakness (HP:0002747)1.84516891
74Foot dorsiflexor weakness (HP:0009027)1.78734066
75Type 2 muscle fiber atrophy (HP:0003554)1.75887723
76Ulnar deviation of finger (HP:0009465)1.73983009
77Abnormality of the musculature of the pelvis (HP:0001469)1.73815412
78Abnormality of the hip-girdle musculature (HP:0001445)1.73815412
79Facial diplegia (HP:0001349)1.72523807
80Heart block (HP:0012722)1.71394832
81Shoulder girdle muscle weakness (HP:0003547)1.67011427
82Paralysis (HP:0003470)1.66335151
83Pelvic girdle muscle weakness (HP:0003749)1.66148219
84Exercise intolerance (HP:0003546)1.63001011
85Limb-girdle muscle weakness (HP:0003325)1.61765388
86Muscle fiber atrophy (HP:0100295)1.61309462
87Abnormal atrioventricular conduction (HP:0005150)1.61113575
88Limited hip movement (HP:0008800)1.60393840
89Breech presentation (HP:0001623)1.59700819
90Ragged-red muscle fibers (HP:0003200)1.57536202
91Amniotic constriction ring (HP:0009775)1.56252941
92Abnormality of placental membranes (HP:0011409)1.56252941
93Aplasia of the musculature (HP:0100854)1.47108738
94Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.44316603
95Oligomenorrhea (HP:0000876)1.42518058
96Adducted thumb (HP:0001181)1.39762025
97Ventricular arrhythmia (HP:0004308)1.37143211
98Increased intramyocellular lipid droplets (HP:0012240)1.36091179
99Easy fatigability (HP:0003388)1.32787812
100Steppage gait (HP:0003376)1.31296991

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PHKG25.84490414
2PHKG15.84490414
3TTN5.82491248
4PIK3CG3.09325491
5OBSCN11.4074839
6PINK11.92428419
7MAPK121.89949095
8MUSK1.70984376
9MAP2K31.67880231
10MAP3K71.65449193
11MOS1.33262256
12MAPKAPK31.31151812
13TRPM71.29597722
14EEF2K1.17261963
15NME11.15386250
16CCNB11.11700714
17MAP2K41.08600064
18MARK10.95189380
19NEK10.91067596
20LIMK10.89564181
21CAMK2G0.86306741
22DMPK0.84630921
23PRKAA20.80750183
24MAP3K130.79228254
25MAP2K60.75078395
26ERBB30.73114916
27AKT20.71812987
28MAPK70.69044861
29TRIB30.67178248
30PDK20.66945383
31DYRK1B0.65303532
32PRKAA10.63945860
33RIPK10.61731865
34NEK90.55074372
35CAMK2B0.54058516
36CAMK40.51866828
37KSR20.51263990
38MAP2K10.50553113
39PRKG10.50511012
40MAPK110.49967331
41MAPK40.49505762
42PKN10.47398878
43BCKDK0.45926982
44PIK3CA0.44466793
45SGK30.43945598
46CAMK2D0.43386768
47TIE10.41914853
48LATS20.41436686
49ICK0.39435276
50CAMK2A0.38177332
51ROCK10.36830036
52CAMK10.35231291
53SGK20.33934195
54MAP3K10.31951836
55PRKACA0.30341664
56TBK10.29990278
57ARAF0.29125000
58SGK10.26685989
59RPS6KA30.25728465
60EPHB10.25704217
61RPS6KB10.25699256
62MAP3K100.24942425
63MAPK130.22881538
64TAOK20.22353838
65MARK20.20950783
66LATS10.20853101
67PRKACB0.20708886
68PDPK10.20513549
69MAPK100.20186569
70RPS6KB20.19701293
71RPS6KA10.18470440
72TGFBR20.18456392
73SIK10.18156012
74NLK0.16611931
75PDK10.16525297
76CDK190.15927197
77SGK2230.15371781
78SGK4940.15371781
79RPS6KC10.14679922
80RPS6KL10.14679922
81STK110.13703053
82DAPK20.13328972
83MTOR0.13054383
84PRPF4B0.12577510
85EPHA30.12399377
86PRKACG0.10834021
87MAP3K90.10641412
88RPS6KA60.10630171
89RAF10.10412639
90MAP3K60.10352295
91PRKD10.08930197
92MARK30.08561055
93MAP3K110.07309682
94MAP3K30.07107305
95BRAF0.05811894
96FGFR30.05621622
97MAPKAPK50.04787669
98KSR10.03978097
99RPS6KA20.03578752
100ZAP700.03560132

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.60242843
2Cardiac muscle contraction_Homo sapiens_hsa042604.16384145
3Dilated cardiomyopathy_Homo sapiens_hsa054144.07012473
42-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.69278761
5Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.60619516
6Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.38939751
7Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.28837388
8Circadian rhythm_Homo sapiens_hsa047102.97615388
9Glucagon signaling pathway_Homo sapiens_hsa049222.36559347
10Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042612.22218607
11Carbon metabolism_Homo sapiens_hsa012002.19769612
12Insulin signaling pathway_Homo sapiens_hsa049102.12815532
13Pentose phosphate pathway_Homo sapiens_hsa000302.09862065
14Arginine and proline metabolism_Homo sapiens_hsa003302.03904555
15Oxytocin signaling pathway_Homo sapiens_hsa049211.86338983
16Calcium signaling pathway_Homo sapiens_hsa040201.79907410
17Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.79481997
18Arginine biosynthesis_Homo sapiens_hsa002201.77335891
19Fructose and mannose metabolism_Homo sapiens_hsa000511.75814566
20Insulin resistance_Homo sapiens_hsa049311.67980980
21Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.61215397
22Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.59150765
23Pyruvate metabolism_Homo sapiens_hsa006201.53062413
24Alzheimers disease_Homo sapiens_hsa050101.49835323
25Propanoate metabolism_Homo sapiens_hsa006401.48910351
26Parkinsons disease_Homo sapiens_hsa050121.46215580
27cGMP-PKG signaling pathway_Homo sapiens_hsa040221.45141175
28Fatty acid degradation_Homo sapiens_hsa000711.33388773
29AMPK signaling pathway_Homo sapiens_hsa041521.32833509
30Biosynthesis of amino acids_Homo sapiens_hsa012301.29015182
31Starch and sucrose metabolism_Homo sapiens_hsa005001.28005873
32Adipocytokine signaling pathway_Homo sapiens_hsa049201.23314723
33Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.13802904
34Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.11211847
35Vascular smooth muscle contraction_Homo sapiens_hsa042701.09241905
36Oxidative phosphorylation_Homo sapiens_hsa001901.06629695
37Gastric acid secretion_Homo sapiens_hsa049711.02994142
38Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.02693759
39Tight junction_Homo sapiens_hsa045301.02136019
40Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.00864847
41Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.99343724
42Renin secretion_Homo sapiens_hsa049240.93081163
43Phenylalanine metabolism_Homo sapiens_hsa003600.83574734
44Focal adhesion_Homo sapiens_hsa045100.82697636
45Fatty acid metabolism_Homo sapiens_hsa012120.81930180
46GnRH signaling pathway_Homo sapiens_hsa049120.81515304
47Galactose metabolism_Homo sapiens_hsa000520.80475841
48Long-term potentiation_Homo sapiens_hsa047200.79280759
49Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.75295701
50Viral myocarditis_Homo sapiens_hsa054160.74105496
51Thyroid hormone signaling pathway_Homo sapiens_hsa049190.61812646
52Huntingtons disease_Homo sapiens_hsa050160.61348649
53FoxO signaling pathway_Homo sapiens_hsa040680.60411271
54Insulin secretion_Homo sapiens_hsa049110.57278774
55Longevity regulating pathway - mammal_Homo sapiens_hsa042110.57029091
56beta-Alanine metabolism_Homo sapiens_hsa004100.55141824
57Salivary secretion_Homo sapiens_hsa049700.52880751
58Circadian entrainment_Homo sapiens_hsa047130.50970507
59MAPK signaling pathway_Homo sapiens_hsa040100.50407460
60Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.49331336
61Aldosterone synthesis and secretion_Homo sapiens_hsa049250.46905189
62Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.45074126
63PPAR signaling pathway_Homo sapiens_hsa033200.44044572
64Tryptophan metabolism_Homo sapiens_hsa003800.43518798
65Butanoate metabolism_Homo sapiens_hsa006500.42410250
66Long-term depression_Homo sapiens_hsa047300.41456510
67Amoebiasis_Homo sapiens_hsa051460.41354198
68Lysine degradation_Homo sapiens_hsa003100.41188489
69Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.38504558
70ECM-receptor interaction_Homo sapiens_hsa045120.37360730
71Fatty acid elongation_Homo sapiens_hsa000620.35428555
72HIF-1 signaling pathway_Homo sapiens_hsa040660.34709096
73Central carbon metabolism in cancer_Homo sapiens_hsa052300.33331199
74Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.32867348
75Glioma_Homo sapiens_hsa052140.31572792
76Regulation of actin cytoskeleton_Homo sapiens_hsa048100.30786747
77Histidine metabolism_Homo sapiens_hsa003400.30642865
78mTOR signaling pathway_Homo sapiens_hsa041500.29944095
79Peroxisome_Homo sapiens_hsa041460.29599428
80cAMP signaling pathway_Homo sapiens_hsa040240.26468687
81Protein digestion and absorption_Homo sapiens_hsa049740.26332714
82Cholinergic synapse_Homo sapiens_hsa047250.26320999
83Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.25772661
84VEGF signaling pathway_Homo sapiens_hsa043700.25401490
85AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.24245890
86Platelet activation_Homo sapiens_hsa046110.23820565
87Amphetamine addiction_Homo sapiens_hsa050310.22644926
88Adherens junction_Homo sapiens_hsa045200.21827496
89Regulation of autophagy_Homo sapiens_hsa041400.21372355
90Carbohydrate digestion and absorption_Homo sapiens_hsa049730.21011072
91Bile secretion_Homo sapiens_hsa049760.20589849
92Melanogenesis_Homo sapiens_hsa049160.20427030
93Renal cell carcinoma_Homo sapiens_hsa052110.18886566
94Pancreatic secretion_Homo sapiens_hsa049720.18458834
95Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.18117752
96Neurotrophin signaling pathway_Homo sapiens_hsa047220.17165681
97Thyroid cancer_Homo sapiens_hsa052160.14725369
98Tyrosine metabolism_Homo sapiens_hsa003500.13503336
99Olfactory transduction_Homo sapiens_hsa047400.12270087
100Purine metabolism_Homo sapiens_hsa002300.11562000

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