CLTCL1

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 is a member of the clathrin heavy chain family and encodes a major protein of the polyhedral coat of coated pits and vesicles. Chromosomal aberrations involving this gene are associated with meningioma, DiGeorge syndrome, and velo-cardio-facial syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sarcoplasmic reticulum calcium ion transport (GO:0070296)9.10211396
2actin-mediated cell contraction (GO:0070252)8.86679393
3regulation of skeletal muscle contraction (GO:0014819)8.49087390
4skeletal muscle contraction (GO:0003009)8.20085158
5response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.96464039
6actin filament-based movement (GO:0030048)6.70111246
7myofibril assembly (GO:0030239)6.65443448
8sarcomere organization (GO:0045214)6.57119430
9regulation of relaxation of muscle (GO:1901077)6.51151967
10response to muscle activity (GO:0014850)6.12064661
11striated muscle contraction (GO:0006941)6.10683354
12response to inactivity (GO:0014854)6.00987737
13skeletal muscle fiber development (GO:0048741)5.85274314
14glycogen catabolic process (GO:0005980)5.69220252
15positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)5.68552170
16plasma membrane repair (GO:0001778)5.52464027
17creatine metabolic process (GO:0006600)5.52409579
18myotube cell development (GO:0014904)5.41406889
19glucan catabolic process (GO:0009251)5.35612907
20cardiac myofibril assembly (GO:0055003)5.34856323
21skeletal muscle adaptation (GO:0043501)5.20753190
22cellular polysaccharide catabolic process (GO:0044247)5.04549638
23regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)4.98137957
24actomyosin structure organization (GO:0031032)4.96853931
25muscle contraction (GO:0006936)4.92773934
26carnitine shuttle (GO:0006853)4.55460535
27cardiac muscle contraction (GO:0060048)4.54076307
28polysaccharide catabolic process (GO:0000272)4.50778143
29cardiac muscle hypertrophy (GO:0003300)4.42616186
30muscle system process (GO:0003012)4.37722211
31muscle fiber development (GO:0048747)4.27413179
32glucan biosynthetic process (GO:0009250)4.26919746
33glycogen biosynthetic process (GO:0005978)4.26919746
34skeletal muscle tissue development (GO:0007519)4.20737353
35striated muscle hypertrophy (GO:0014897)4.20280818
36muscle cell cellular homeostasis (GO:0046716)4.20185820
37striated muscle adaptation (GO:0014888)4.14809356
38negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.12269323
39NADH metabolic process (GO:0006734)3.97724897
40muscle cell fate commitment (GO:0042693)3.97175839
41positive regulation of myotube differentiation (GO:0010831)3.96553741
42regulation of actin filament-based movement (GO:1903115)3.83535846
43regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.83175577
44negative regulation of potassium ion transmembrane transport (GO:1901380)3.76459794
45regulation of cell communication by electrical coupling (GO:0010649)3.71661413
46glycogen metabolic process (GO:0005977)3.70856013
47muscle hypertrophy (GO:0014896)3.70836192
48skeletal muscle tissue regeneration (GO:0043403)3.69385473
49muscle structure development (GO:0061061)3.67185816
50muscle organ development (GO:0007517)3.66332103
51gluconeogenesis (GO:0006094)3.66166010
52fatty acid transmembrane transport (GO:1902001)3.65729602
53cellular glucan metabolic process (GO:0006073)3.63519758
54glucan metabolic process (GO:0044042)3.63519758
55carnitine transmembrane transport (GO:1902603)3.62505764
56muscle tissue morphogenesis (GO:0060415)3.62218159
57adult heart development (GO:0007512)3.56156652
58myoblast fusion (GO:0007520)3.52821697
59striated muscle cell development (GO:0055002)3.51679595
60IMP metabolic process (GO:0046040)3.51231591
61striated muscle atrophy (GO:0014891)3.49590568
622-oxoglutarate metabolic process (GO:0006103)3.47312731
63hexose biosynthetic process (GO:0019319)3.34433310
64cardiac muscle tissue morphogenesis (GO:0055008)3.33573831
65cardiac muscle hypertrophy in response to stress (GO:0014898)3.30247871
66muscle hypertrophy in response to stress (GO:0003299)3.30247871
67cardiac muscle adaptation (GO:0014887)3.30247871
68muscle adaptation (GO:0043500)3.29577474
69cardiac muscle cell development (GO:0055013)3.28268585
70carnitine transport (GO:0015879)3.25708926
71amino-acid betaine transport (GO:0015838)3.25708926
72response to activity (GO:0014823)3.17525063
73fructose metabolic process (GO:0006000)3.16884258
74muscle cell development (GO:0055001)3.15735491
75myotube differentiation (GO:0014902)3.15112522
76regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.14594940
77muscle atrophy (GO:0014889)3.13262186
78syncytium formation by plasma membrane fusion (GO:0000768)3.12528389
79focal adhesion assembly (GO:0048041)3.10893677
80cell-substrate adherens junction assembly (GO:0007045)3.10893677
81cellular carbohydrate catabolic process (GO:0044275)3.10860589
82cardiac cell development (GO:0055006)3.10784819
83muscle organ morphogenesis (GO:0048644)3.08938607
84glycolytic process (GO:0006096)3.05639354
85regulation of striated muscle contraction (GO:0006942)3.03617015
86monosaccharide biosynthetic process (GO:0046364)3.00333838
87regulation of myoblast differentiation (GO:0045661)2.99601578
88positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.96986831
89regulation of myotube differentiation (GO:0010830)2.95089772
90regulation of skeletal muscle cell differentiation (GO:2001014)2.93814408
91striated muscle tissue development (GO:0014706)2.93240144
92tricarboxylic acid cycle (GO:0006099)2.91958403
93regulation of NFAT protein import into nucleus (GO:0051532)2.86099730
94positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.79915426
95regulation of the force of heart contraction (GO:0002026)2.79560222
96response to dexamethasone (GO:0071548)2.78318387
97peptidyl-lysine dimethylation (GO:0018027)2.77578404
98nuclear pore complex assembly (GO:0051292)2.77395944
99muscle filament sliding (GO:0030049)10.7131883
100actin-myosin filament sliding (GO:0033275)10.7131883

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human4.14226084
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.15720701
3TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse3.13565057
4ZNF263_19887448_ChIP-Seq_K562_Human3.06927261
5BP1_19119308_ChIP-ChIP_Hs578T_Human3.00121068
6TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.90152208
7RARG_19884340_ChIP-ChIP_MEFs_Mouse2.77236204
8ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.72690174
9TBX20_22080862_ChIP-Seq_HEART_Mouse2.65575877
10TBX20_22328084_ChIP-Seq_HEART_Mouse2.65575877
11RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.61338145
12NKX2-5_21415370_ChIP-Seq_HL-1_Mouse2.49028016
13VDR_21846776_ChIP-Seq_THP-1_Human2.37447119
14PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.35159478
15FOXM1_23109430_ChIP-Seq_U2OS_Human2.33334105
16ESR1_20079471_ChIP-ChIP_T-47D_Human2.28750622
17BCL3_23251550_ChIP-Seq_MUSCLE_Mouse2.10124846
18MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.98972116
19RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.97837563
20LXR_22292898_ChIP-Seq_THP-1_Human1.94091515
21ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.93193320
22CLOCK_20551151_ChIP-Seq_293T_Human1.91498630
23NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.88986708
24STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.87705504
25ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.87452942
26GATA4_21415370_ChIP-Seq_HL-1_Mouse1.86562641
27NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.76321355
28P300_27058665_Chip-Seq_ZR-75-30cells_Human1.71799079
29TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.70953701
30KDM2B_26808549_Chip-Seq_DND41_Human1.65666694
31KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.63712849
32THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.58672671
33CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.55559649
34RACK7_27058665_Chip-Seq_MCF-7_Human1.54758489
35ESR2_21235772_ChIP-Seq_MCF-7_Human1.52716030
36NFIB_24661679_ChIP-Seq_LUNG_Mouse1.51525893
37SMC4_20622854_ChIP-Seq_HELA_Human1.49768239
38CTCF_27219007_Chip-Seq_Bcells_Human1.49701748
39EP300_21415370_ChIP-Seq_HL-1_Mouse1.43707245
40CTCF_27219007_Chip-Seq_ERYTHROID_Human1.43204224
41PPARA_22158963_ChIP-Seq_LIVER_Mouse1.41954268
42P68_20966046_ChIP-Seq_HELA_Human1.39330911
43DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.39101738
44ERG_21242973_ChIP-ChIP_JURKAT_Human1.39059945
45TRIM28_21343339_ChIP-Seq_HEK293_Human1.38721681
46RXR_22158963_ChIP-Seq_LIVER_Mouse1.38191489
47MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.37209027
48* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.36432950
49TCF7_22412390_ChIP-Seq_EML_Mouse1.36160954
50TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.33877250
51EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.33250688
52KDM2B_26808549_Chip-Seq_SUP-B15_Human1.32946015
53CREB1_26743006_Chip-Seq_LNCaP_Human1.30934238
54UBF1/2_26484160_Chip-Seq_HMECs_Human1.29055726
55ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.28048689
56KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.28029188
57CTCF_21964334_ChIP-Seq_BJAB-B_Human1.27023845
58RBPJ_22232070_ChIP-Seq_NCS_Mouse1.26225900
59SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.25197220
60ELK3_25401928_ChIP-Seq_HUVEC_Human1.24251481
61STAT3_19079543_ChIP-ChIP_MESCs_Mouse1.23423872
62PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.22115148
63KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.20410968
64SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.20392594
65CDX2_19796622_ChIP-Seq_MESCs_Mouse1.20181041
66ZFP281_18757296_ChIP-ChIP_E14_Mouse1.19970132
67KDM2B_26808549_Chip-Seq_K562_Human1.19919724
68CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.19670712
69WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.17427922
70CTCF_21964334_Chip-Seq_Bcells_Human1.17367245
71EZH2_22144423_ChIP-Seq_EOC_Human1.16566953
72UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.16475591
73THAP11_20581084_ChIP-Seq_MESCs_Mouse1.14779523
74EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.13965768
75HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.13622510
76ATF3_27146783_Chip-Seq_COLON_Human1.10675763
77TP53_23651856_ChIP-Seq_MEFs_Mouse1.07772970
78STAT3_1855785_ChIP-Seq_MESCs_Mouse1.07769797
79GATA1_19941827_ChIP-Seq_MEL_Mouse1.06460499
80SMC3_22415368_ChIP-Seq_MEFs_Mouse1.05969567
81MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.05132980
82TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.02585642
83TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.02463004
84CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.02387212
85KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.01311706
86SA1_27219007_Chip-Seq_ERYTHROID_Human1.01172630
87TET1_21451524_ChIP-Seq_MESCs_Mouse0.98609038
88SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.98125312
89KLF4_18555785_ChIP-Seq_MESCs_Mouse0.96904387
90TP63_22573176_ChIP-Seq_HFKS_Human0.96274046
91LXR_22158963_ChIP-Seq_LIVER_Mouse0.94622594
92CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.94168165
93MYC_27129775_Chip-Seq_CORNEA_Mouse0.93991741
94FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.93213367
95TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.92867251
96SPI1_20517297_ChIP-Seq_HL60_Human0.91818650
97RARA_24833708_ChIP-Seq_LIVER_Mouse0.91759931
98SA1_27219007_Chip-Seq_Bcells_Human0.90457181
99CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.90289945
100MYC_22102868_ChIP-Seq_BL_Human0.89678674

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003646_muscle_fatigue5.97905300
2MP0000751_myopathy5.76607584
3MP0000749_muscle_degeneration5.58189718
4MP0004145_abnormal_muscle_electrophysio5.55548905
5MP0004036_abnormal_muscle_relaxation3.76602051
6MP0004233_abnormal_muscle_weight3.62039000
7MP0000747_muscle_weakness3.61532725
8MP0004087_abnormal_muscle_fiber3.43706182
9MP0000759_abnormal_skeletal_muscle3.39691756
10MP0002106_abnormal_muscle_physiology3.30715312
11MP0002269_muscular_atrophy3.30023696
12MP0005451_abnormal_body_composition3.15178085
13MP0000750_abnormal_muscle_regeneration2.90982412
14MP0005369_muscle_phenotype2.80820058
15MP0004084_abnormal_cardiac_muscle2.79659473
16MP0004130_abnormal_muscle_cell2.72635475
17MP0005330_cardiomyopathy2.54027110
18MP0002332_abnormal_exercise_endurance2.45214651
19MP0000733_abnormal_muscle_development2.36692552
20MP0005620_abnormal_muscle_contractility2.30233245
21MP0001661_extended_life_span2.18302532
22MP0000013_abnormal_adipose_tissue2.03724318
23MP0002108_abnormal_muscle_morphology1.99535692
24MP0003950_abnormal_plasma_membrane1.96117469
25MP0003705_abnormal_hypodermis_morpholog1.80310195
26MP0010630_abnormal_cardiac_muscle1.74362808
27MP0002972_abnormal_cardiac_muscle1.68028303
28MP0000003_abnormal_adipose_tissue1.44430113
29MP0004185_abnormal_adipocyte_glucose1.43917425
30MP0002837_dystrophic_cardiac_calcinosis1.42024771
31MP0006138_congestive_heart_failure1.40457792
32MP0006036_abnormal_mitochondrial_physio1.29057026
33MP0003221_abnormal_cardiomyocyte_apopto1.27363118
34MP0008438_abnormal_cutaneous_collagen1.23811109
35MP0004215_abnormal_myocardial_fiber1.22161682
36MP0004484_altered_response_of1.21016970
37MP0005375_adipose_tissue_phenotype1.20966353
38MP0002971_abnormal_brown_adipose1.16098957
39MP0005666_abnormal_adipose_tissue1.15106849
40MP0005266_abnormal_metabolism1.15018107
41MP0002127_abnormal_cardiovascular_syste1.11529491
42MP0005083_abnormal_biliary_tract1.10347715
43MP0003656_abnormal_erythrocyte_physiolo1.07558464
44MP0001299_abnormal_eye_distance/1.05937413
45MP0005385_cardiovascular_system_phenoty1.05417576
46MP0001544_abnormal_cardiovascular_syste1.05417576
47MP0004270_analgesia0.96585540
48MP0008775_abnormal_heart_ventricle0.93629643
49MP0004272_abnormal_basement_membrane0.87819349
50MP0004510_myositis0.86722337
51MP0010030_abnormal_orbit_morphology0.85977760
52MP0003566_abnormal_cell_adhesion0.84368867
53MP0009672_abnormal_birth_weight0.82138653
54MP0005670_abnormal_white_adipose0.77650270
55MP0000266_abnormal_heart_morphology0.76253062
56MP0004134_abnormal_chest_morphology0.75862096
57MP0000762_abnormal_tongue_morphology0.69597445
58MP0002114_abnormal_axial_skeleton0.68205281
59MP0005409_darkened_coat_color0.67118985
60MP0003828_pulmonary_edema0.66679144
61MP0003045_fibrosis0.65601685
62MP0005076_abnormal_cell_differentiation0.63638755
63MP0003137_abnormal_impulse_conducting0.61795516
64MP0004858_abnormal_nervous_system0.59601926
65MP0004197_abnormal_fetal_growth/weight/0.59209408
66MP0009250_abnormal_appendicular_skeleto0.57973125
67MP0003111_abnormal_nucleus_morphology0.57961221
68MP0000579_abnormal_nail_morphology0.55820698
69MP0003385_abnormal_body_wall0.54826252
70MP0001849_ear_inflammation0.52785210
71MP0004085_abnormal_heartbeat0.50709377
72MP0003879_abnormal_hair_cell0.50463849
73MP0003941_abnormal_skin_development0.50245705
74MP0002128_abnormal_blood_circulation0.49509696
75MP0002896_abnormal_bone_mineralization0.49036061
76MP0008260_abnormal_autophagy0.45339476
77MP0003091_abnormal_cell_migration0.43896266
78MP0009780_abnormal_chondrocyte_physiolo0.41061261
79MP0005584_abnormal_enzyme/coenzyme_acti0.40874549
80MP0009703_decreased_birth_body0.40587513
81MP0006035_abnormal_mitochondrial_morpho0.39994864
82MP0005187_abnormal_penis_morphology0.38775233
83MP0003948_abnormal_gas_homeostasis0.38092383
84MP0003959_abnormal_lean_body0.38074112
85MP0005334_abnormal_fat_pad0.38051568
86MP0005452_abnormal_adipose_tissue0.37754473
87MP0000467_abnormal_esophagus_morphology0.37128197
88MP0005623_abnormal_meninges_morphology0.36713579
89MP0009840_abnormal_foam_cell0.36296863
90MP0001915_intracranial_hemorrhage0.36272901
91MP0005319_abnormal_enzyme/_coenzyme0.36214867
92MP0003984_embryonic_growth_retardation0.36079273
93MP0005332_abnormal_amino_acid0.35234641
94MP0005376_homeostasis/metabolism_phenot0.34011420
95MP0008770_decreased_survivor_rate0.33900481
96MP0000428_abnormal_craniofacial_morphol0.32961876
97MP0002088_abnormal_embryonic_growth/wei0.32732807
98MP0005058_abnormal_lysosome_morphology0.32021024
99MP0005275_abnormal_skin_tensile0.31986528
100MP0002009_preneoplasia0.30639583

Predicted human phenotypes

RankGene SetZ-score
1Type 1 muscle fiber predominance (HP:0003803)7.90860817
2Exercise-induced myalgia (HP:0003738)7.87621709
3Exercise-induced muscle cramps (HP:0003710)6.83301370
4Myopathic facies (HP:0002058)5.68762498
5Distal arthrogryposis (HP:0005684)5.51054572
6Muscle hypertrophy of the lower extremities (HP:0008968)5.35640280
7EMG: myopathic abnormalities (HP:0003458)4.93698263
8Calf muscle hypertrophy (HP:0008981)4.85346962
9Rhabdomyolysis (HP:0003201)4.83346571
10Ulnar deviation of the wrist (HP:0003049)4.74012929
11Myoglobinuria (HP:0002913)4.66523642
12Round ear (HP:0100830)4.53764690
13Centrally nucleated skeletal muscle fibers (HP:0003687)4.41816098
14Hyporeflexia of lower limbs (HP:0002600)4.35593205
15Increased connective tissue (HP:0009025)4.32920038
16Muscle fiber splitting (HP:0003555)4.32015208
17Calcaneovalgus deformity (HP:0001848)4.29115540
18Abnormality of skeletal muscle fiber size (HP:0012084)4.23257072
19Abnormality of the calf musculature (HP:0001430)4.22042450
20Difficulty running (HP:0009046)4.17217274
21Neck muscle weakness (HP:0000467)4.00611169
22Rimmed vacuoles (HP:0003805)3.95714910
23Deformed tarsal bones (HP:0008119)3.77870048
24Increased variability in muscle fiber diameter (HP:0003557)3.77212313
25Abnormality of the left ventricular outflow tract (HP:0011103)3.74814937
26Subaortic stenosis (HP:0001682)3.74814937
27Muscle stiffness (HP:0003552)3.61766931
28Malignant hyperthermia (HP:0002047)3.40600222
29Distal lower limb muscle weakness (HP:0009053)3.32705200
30Asymmetric septal hypertrophy (HP:0001670)3.21036718
31Absent phalangeal crease (HP:0006109)3.06226422
32Frequent falls (HP:0002359)3.06087806
33Abnormality of the calcaneus (HP:0008364)3.03453289
34Myotonia (HP:0002486)2.97781741
35Generalized muscle weakness (HP:0003324)2.93621157
36Sudden death (HP:0001699)2.92627761
37Areflexia of lower limbs (HP:0002522)2.86831866
38Mildly elevated creatine phosphokinase (HP:0008180)2.85791048
39Fetal akinesia sequence (HP:0001989)2.82431484
40Distal lower limb amyotrophy (HP:0008944)2.73721100
41Progressive muscle weakness (HP:0003323)2.68794326
42Abnormality of the neuromuscular junction (HP:0003398)2.66837861
43Fatigable weakness (HP:0003473)2.66837861
44EMG: neuropathic changes (HP:0003445)2.65888295
45Bundle branch block (HP:0011710)2.60876536
46Spinal rigidity (HP:0003306)2.59361754
47Bulbar palsy (HP:0001283)2.56643201
48Slender build (HP:0001533)2.56522027
49Abnormal finger flexion creases (HP:0006143)2.55123029
50Scapular winging (HP:0003691)2.51358782
51Difficulty climbing stairs (HP:0003551)2.46868175
52Gowers sign (HP:0003391)2.46473587
53Dilated cardiomyopathy (HP:0001644)2.39057646
54Weak cry (HP:0001612)2.35122279
55Ventricular tachycardia (HP:0004756)2.26967629
56Popliteal pterygium (HP:0009756)2.21217639
57Lipoatrophy (HP:0100578)2.19778262
58Muscular dystrophy (HP:0003560)2.19159157
59Hyperkalemia (HP:0002153)2.14547767
60Long clavicles (HP:0000890)2.11259597
61Limb-girdle muscle atrophy (HP:0003797)2.09932237
62Lower limb amyotrophy (HP:0007210)2.07714457
63Waddling gait (HP:0002515)2.01019640
64Abnormality of the foot musculature (HP:0001436)2.00494930
65Nemaline bodies (HP:0003798)10.3510992
66Muscle fiber inclusion bodies (HP:0100299)10.2352271
67Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)10.0030783
68Ragged-red muscle fibers (HP:0003200)1.95190509
69Foot dorsiflexor weakness (HP:0009027)1.95100438
70Metatarsus adductus (HP:0001840)1.95088323
71Hip contracture (HP:0003273)1.93971558
72Abnormality of the shoulder girdle musculature (HP:0001435)1.90502415
73Paralysis (HP:0003470)1.84278117
74Proximal amyotrophy (HP:0007126)1.80204493
75Shoulder girdle muscle weakness (HP:0003547)1.80150874
76Pelvic girdle muscle weakness (HP:0003749)1.78887656
77Abnormality of the hip-girdle musculature (HP:0001445)1.71849027
78Abnormality of the musculature of the pelvis (HP:0001469)1.71849027
79Limb-girdle muscle weakness (HP:0003325)1.71507140
80Respiratory insufficiency due to muscle weakness (HP:0002747)1.69340340
81Abnormality of placental membranes (HP:0011409)1.67197193
82Amniotic constriction ring (HP:0009775)1.67197193
83Abnormal atrioventricular conduction (HP:0005150)1.61346704
84Heart block (HP:0012722)1.61169724
85Dysmetric saccades (HP:0000641)1.60174210
86Hypoalphalipoproteinemia (HP:0003233)1.58314751
87Type 2 muscle fiber atrophy (HP:0003554)1.58252179
88Nonprogressive disorder (HP:0003680)1.58043873
89Breech presentation (HP:0001623)1.56784603
90Ulnar deviation of finger (HP:0009465)1.56372210
91Thin ribs (HP:0000883)1.55937455
92Muscle fiber atrophy (HP:0100295)1.51502628
93Easy fatigability (HP:0003388)1.50351098
94Limited hip movement (HP:0008800)1.48456551
95Achilles tendon contracture (HP:0001771)1.48375081
96Short palpebral fissure (HP:0012745)1.45387194
97Ulnar bowing (HP:0003031)1.44559748
98Generalized amyotrophy (HP:0003700)1.41855896
99Steppage gait (HP:0003376)1.41334729
100Facial diplegia (HP:0001349)1.40347055

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN9.64335460
2TTN6.17508608
3PHKG24.71093638
4PHKG14.71093638
5PIK3CG2.54500218
6MAP2K32.39113539
7MUSK1.99470864
8EEF2K1.97253979
9TRIB31.88936130
10MAPK121.84643920
11MAP3K71.81707587
12PDK21.68422070
13ICK1.67445334
14MAP3K101.45071464
15CDK121.40156579
16PINK11.29602626
17MAP2K41.22976893
18TRPM71.12558755
19NEK11.08627385
20KSR21.03216038
21PRKAA20.99189129
22MOS0.94672482
23RIPK10.90157514
24MTOR0.90021386
25AKT20.84076738
26MAPK110.83832400
27MST1R0.82484358
28PRKAA10.81627363
29DYRK1B0.76028819
30CAMK1G0.74504590
31NEK90.73481700
32MARK10.69385291
33CAMK1D0.68159864
34LATS20.67077306
35CAMK2G0.66491234
36MAPK70.64760043
37MARK20.63839662
38SGK30.63795368
39LATS10.62893250
40CCNB10.62397696
41MAP3K60.61807416
42SIK10.60970413
43BRD40.60524404
44EPHB10.60051731
45DMPK0.59802531
46CAMK40.59500362
47PDPK10.59246054
48MAPKAPK30.59034556
49NME10.58421918
50PDGFRA0.57477707
51MET0.54171694
52MAP2K10.52902094
53CDC70.50645203
54MAP3K130.49793822
55PRPF4B0.49346230
56MAP2K60.48116727
57LIMK10.45395834
58RAF10.45216938
59ERN10.42297742
60CAMK10.41760170
61RPS6KA10.41164893
62ERBB30.40812675
63MAPK40.40692806
64PBK0.39495777
65RPS6KC10.38714539
66RPS6KL10.38714539
67MAPK100.38595826
68RPS6KB20.37370913
69RPS6KB10.35334345
70MAP3K30.33805833
71CDK40.33792787
72PRKG10.33625858
73CAMK2D0.33529162
74NEK20.30806341
75PRKACB0.30569522
76RPS6KA20.28038498
77ROCK10.27968153
78RPS6KA60.27470657
79CHEK10.27426850
80RPS6KA30.26863914
81DDR20.26368768
82CDK80.26341325
83PDK10.26320480
84STK380.25923951
85SGK10.25214269
86MAP3K10.24557653
87CHEK20.24364305
88BRAF0.24103694
89CDK60.23250623
90CDK10.22483451
91SMG10.22095110
92RET0.21910371
93TTK0.21809138
94GSK3B0.21089976
95FGFR40.18923225
96CDK20.18511882
97ZAK0.18509052
98TAOK20.18478068
99WNK10.17223093
100CAMK2B0.17085798

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.72246020
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.42660900
3Dilated cardiomyopathy_Homo sapiens_hsa054143.32053215
42-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.13870664
5Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.85556851
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.83022196
7Cardiac muscle contraction_Homo sapiens_hsa042602.25847317
8Arginine biosynthesis_Homo sapiens_hsa002202.25316220
9Carbon metabolism_Homo sapiens_hsa012002.21314675
10Pentose phosphate pathway_Homo sapiens_hsa000302.19116522
11Glucagon signaling pathway_Homo sapiens_hsa049222.08516333
12Insulin signaling pathway_Homo sapiens_hsa049102.04295065
13Biosynthesis of amino acids_Homo sapiens_hsa012302.04068549
14Fructose and mannose metabolism_Homo sapiens_hsa000511.92595196
15Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.79258926
16Circadian rhythm_Homo sapiens_hsa047101.72924658
17Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.66807516
18Pyruvate metabolism_Homo sapiens_hsa006201.66613654
19Arginine and proline metabolism_Homo sapiens_hsa003301.58682498
20Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.57358874
21Insulin resistance_Homo sapiens_hsa049311.53351436
22AMPK signaling pathway_Homo sapiens_hsa041521.46704148
23Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.36522750
24Lysine degradation_Homo sapiens_hsa003101.35494887
25Longevity regulating pathway - multiple species_Homo sapiens_hsa042131.30360204
26Galactose metabolism_Homo sapiens_hsa000521.30321685
27Adipocytokine signaling pathway_Homo sapiens_hsa049201.26615564
28Phenylalanine metabolism_Homo sapiens_hsa003601.25375644
29Fatty acid degradation_Homo sapiens_hsa000711.23424665
30Oxytocin signaling pathway_Homo sapiens_hsa049211.18702670
31Sulfur relay system_Homo sapiens_hsa041221.18343644
32Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.16265574
33Starch and sucrose metabolism_Homo sapiens_hsa005001.11165002
34Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.10778481
35Focal adhesion_Homo sapiens_hsa045101.10656875
36Central carbon metabolism in cancer_Homo sapiens_hsa052301.10530012
37Fatty acid metabolism_Homo sapiens_hsa012121.08348726
38Calcium signaling pathway_Homo sapiens_hsa040201.07758062
39Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.04218194
40Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.02989898
41ECM-receptor interaction_Homo sapiens_hsa045120.98252801
42Propanoate metabolism_Homo sapiens_hsa006400.95961655
43cGMP-PKG signaling pathway_Homo sapiens_hsa040220.94058933
44Longevity regulating pathway - mammal_Homo sapiens_hsa042110.89157805
45Thyroid hormone signaling pathway_Homo sapiens_hsa049190.86145664
46Nitrogen metabolism_Homo sapiens_hsa009100.79572646
47mTOR signaling pathway_Homo sapiens_hsa041500.79153468
48Adherens junction_Homo sapiens_hsa045200.75699777
49GnRH signaling pathway_Homo sapiens_hsa049120.68197119
50Fatty acid biosynthesis_Homo sapiens_hsa000610.67763898
51Non-small cell lung cancer_Homo sapiens_hsa052230.67382337
52FoxO signaling pathway_Homo sapiens_hsa040680.66837777
53Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.66587092
54Tight junction_Homo sapiens_hsa045300.64187621
55Other glycan degradation_Homo sapiens_hsa005110.63504602
56Amoebiasis_Homo sapiens_hsa051460.62906018
57Bladder cancer_Homo sapiens_hsa052190.62693466
58Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.62271330
59Vascular smooth muscle contraction_Homo sapiens_hsa042700.62240423
60Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.60606844
61Glioma_Homo sapiens_hsa052140.60291631
62PPAR signaling pathway_Homo sapiens_hsa033200.54725652
63VEGF signaling pathway_Homo sapiens_hsa043700.53938291
64Small cell lung cancer_Homo sapiens_hsa052220.52797788
65Chronic myeloid leukemia_Homo sapiens_hsa052200.51052175
66Endometrial cancer_Homo sapiens_hsa052130.47653538
67Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.47222780
68Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.46464040
69Nucleotide excision repair_Homo sapiens_hsa034200.46071107
70Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.45834159
71Tyrosine metabolism_Homo sapiens_hsa003500.44940215
72Thyroid cancer_Homo sapiens_hsa052160.44657477
73Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.44568517
74Gastric acid secretion_Homo sapiens_hsa049710.44228131
75DNA replication_Homo sapiens_hsa030300.43644730
76Proteoglycans in cancer_Homo sapiens_hsa052050.43540058
77ABC transporters_Homo sapiens_hsa020100.41035251
78Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.40986749
79HIF-1 signaling pathway_Homo sapiens_hsa040660.39198187
80Regulation of actin cytoskeleton_Homo sapiens_hsa048100.38476678
81Long-term potentiation_Homo sapiens_hsa047200.35842771
82Pancreatic cancer_Homo sapiens_hsa052120.35344550
83MAPK signaling pathway_Homo sapiens_hsa040100.34321323
84Fatty acid elongation_Homo sapiens_hsa000620.34045174
85Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.32980187
86Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.32790645
87Acute myeloid leukemia_Homo sapiens_hsa052210.32127612
88Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.31074304
89AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.30506498
90Aldosterone synthesis and secretion_Homo sapiens_hsa049250.29587422
91Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.29303992
92Gap junction_Homo sapiens_hsa045400.29059234
93Inositol phosphate metabolism_Homo sapiens_hsa005620.28815332
94Cysteine and methionine metabolism_Homo sapiens_hsa002700.28539240
95Oocyte meiosis_Homo sapiens_hsa041140.27791080
96Neurotrophin signaling pathway_Homo sapiens_hsa047220.27734532
97ErbB signaling pathway_Homo sapiens_hsa040120.27446848
98Vitamin B6 metabolism_Homo sapiens_hsa007500.26827506
99Glycerophospholipid metabolism_Homo sapiens_hsa005640.25822181
100Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.25483143

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