GUCA1C

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





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

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO6.43305644
2cardiac muscle contraction (GO:0060048)6.42576733
3regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)6.33098500
4cardiac myofibril assembly (GO:0055003)5.85614774
5neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)5.80375822
6sarcomere organization (GO:0045214)5.72716229
7regulation of cell communication by electrical coupling (GO:0010649)5.69024903
8actin-myosin filament sliding (GO:0033275)5.30622102
9muscle filament sliding (GO:0030049)5.30622102
10regulation of relaxation of muscle (GO:1901077)5.28142990
11regulation of actin filament-based movement (GO:1903115)5.24398664
12regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.10316806
13myofibril assembly (GO:0030239)5.07451810
14heart contraction (GO:0060047)4.98393866
15heart process (GO:0003015)4.98393866
16ventricular cardiac muscle tissue morphogenesis (GO:0055010)4.87241475
17regulation of the force of heart contraction (GO:0002026)4.64955156
18cardiac muscle tissue morphogenesis (GO:0055008)4.60830188
19relaxation of cardiac muscle (GO:0055119)4.59149552
20striated muscle contraction (GO:0006941)4.53625852
21protein-chromophore linkage (GO:0018298)4.50982288
22actin-mediated cell contraction (GO:0070252)4.50135770
23cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.44114485
24cobalamin metabolic process (GO:0009235)4.42378312
25cell communication involved in cardiac conduction (GO:0086065)4.37902249
26regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)4.34378646
27cardiac muscle hypertrophy (GO:0003300)4.31360143
28negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.31346349
29positive regulation of inositol phosphate biosynthetic process (GO:0060732)4.24587700
30positive regulation of calcium ion transmembrane transporter activity (GO:1901021)4.13799782
31regulation of striated muscle contraction (GO:0006942)4.13462998
32striated muscle hypertrophy (GO:0014897)4.11043068
33detection of calcium ion (GO:0005513)4.08020175
34muscle tissue morphogenesis (GO:0060415)4.06439688
35actomyosin structure organization (GO:0031032)4.04667401
36positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.00760332
37negative regulation of potassium ion transmembrane transport (GO:1901380)3.97851295
38peptidyl-proline hydroxylation (GO:0019511)3.97291026
39cardiac muscle cell development (GO:0055013)3.96739839
40adult heart development (GO:0007512)3.96490912
41positive regulation of prostaglandin secretion (GO:0032308)3.83864843
42regulation of cardiac muscle contraction (GO:0055117)3.81955638
43regulation of cardioblast differentiation (GO:0051890)3.81263980
44cardiac cell development (GO:0055006)3.76822583
45positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)3.69406546
46ventricular cardiac muscle cell action potential (GO:0086005)3.67573428
47muscle hypertrophy (GO:0014896)3.63297051
48regulation of cardiac muscle cell contraction (GO:0086004)3.57196338
49L-methionine salvage (GO:0071267)3.55342215
50L-methionine biosynthetic process (GO:0071265)3.55342215
51amino acid salvage (GO:0043102)3.55342215
52cell communication by electrical coupling (GO:0010644)3.54586887
53ventricular cardiac muscle cell development (GO:0055015)3.52606582
54heart trabecula formation (GO:0060347)3.51691346
55regulation of ATP catabolic process (GO:1903289)3.50024036
56regulation of ATPase activity (GO:0043462)3.50024036
57regulation of heart rate (GO:0002027)3.49726418
58carnitine shuttle (GO:0006853)3.49097652
59digestion (GO:0007586)3.45128303
60bundle of His cell to Purkinje myocyte communication (GO:0086069)3.37857773
61positive regulation of heart rate (GO:0010460)3.34612977
62nephron tubule development (GO:0072080)3.33780438
63regulation of heart contraction (GO:0008016)3.31764900
64nephron tubule formation (GO:0072079)3.31325629
65protein hydroxylation (GO:0018126)3.29956851
66response to redox state (GO:0051775)3.24616263
67negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.24155245
68positive regulation of uterine smooth muscle contraction (GO:0070474)3.23927175
69fatty acid transmembrane transport (GO:1902001)3.23126319
70positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)3.21434116
71positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)3.20752146
72regulation of prostaglandin secretion (GO:0032306)3.18071430
73methionine biosynthetic process (GO:0009086)3.16043667
74actin filament-based movement (GO:0030048)3.15969475
75regulation of muscle contraction (GO:0006937)3.12115083
76regulation of membrane repolarization (GO:0060306)3.11031384
77positive regulation of DNA-templated transcription, initiation (GO:2000144)3.09157804
78regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)3.08008857
79intestinal cholesterol absorption (GO:0030299)3.07828064
80negative regulation of metanephros development (GO:0072217)3.06698791
81otic vesicle formation (GO:0030916)3.03817959
82response to stimulus involved in regulation of muscle adaptation (GO:0014874)3.03086296
83regulation of calcium ion transmembrane transporter activity (GO:1901019)3.01853038
84regulation of calcium ion transmembrane transport (GO:1903169)3.01853038
85positive regulation of ERBB signaling pathway (GO:1901186)3.01699345
86nephron tubule morphogenesis (GO:0072078)3.00236608
87nephron epithelium morphogenesis (GO:0072088)3.00236608
88cardiac muscle hypertrophy in response to stress (GO:0014898)2.98555610
89muscle hypertrophy in response to stress (GO:0003299)2.98555610
90cardiac muscle adaptation (GO:0014887)2.98555610
91regulation of inositol phosphate biosynthetic process (GO:0010919)2.97337603
92negative regulation of mesenchymal cell apoptotic process (GO:2001054)2.91638815
93L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.91284853
94membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.90309409
95renal tubule development (GO:0061326)2.88311432
96detection of light stimulus involved in sensory perception (GO:0050962)2.86019722
97detection of light stimulus involved in visual perception (GO:0050908)2.86019722
98regulation of muscle system process (GO:0090257)2.85798717
99regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.84920154
100positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.84077380

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.51536172
2EP300_21415370_ChIP-Seq_HL-1_Mouse3.11738688
3CDX2_19796622_ChIP-Seq_MESCs_Mouse2.83461963
4ESR1_20079471_ChIP-ChIP_T-47D_Human2.66781653
5GBX2_23144817_ChIP-Seq_PC3_Human2.52216736
6TRIM28_21343339_ChIP-Seq_HEK293_Human2.50428146
7RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.38013460
8EZH2_22144423_ChIP-Seq_EOC_Human2.32414281
9SMAD_19615063_ChIP-ChIP_OVARY_Human2.05825701
10TAF15_26573619_Chip-Seq_HEK293_Human1.99366830
11* CJUN_26792858_Chip-Seq_BT549_Human1.95868329
12* SMAD4_21799915_ChIP-Seq_A2780_Human1.94743482
13ZNF217_24962896_ChIP-Seq_MCF-7_Human1.88955561
14AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.83467007
15* TP53_18474530_ChIP-ChIP_U2OS_Human1.80800081
16PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.80394998
17CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.78276242
18TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.78158362
19TP53_16413492_ChIP-PET_HCT116_Human1.72239287
20HIF1A_21447827_ChIP-Seq_MCF-7_Human1.70339054
21TBX20_22080862_ChIP-Seq_HEART_Mouse1.67588371
22TBX20_22328084_ChIP-Seq_HEART_Mouse1.67588371
23STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.66119474
24PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.63393263
25POU3F2_20337985_ChIP-ChIP_501MEL_Human1.62587213
26MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.57019368
27ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.51243551
28NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.50171660
29PPAR_26484153_Chip-Seq_NCI-H1993_Human1.49920083
30GATA1_22025678_ChIP-Seq_K562_Human1.49022048
31PCGF4_22325352_ChIP-Seq_293T-Rex_Human1.48143594
32PIAS1_25552417_ChIP-Seq_VCAP_Human1.47831193
33NFYB_21822215_ChIP-Seq_K562_Human1.46930582
34TBL1_22424771_ChIP-Seq_293T_Human1.46529910
35GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.44798504
36ZFP57_27257070_Chip-Seq_ESCs_Mouse1.44580947
37HNFA_21074721_ChIP-Seq_CACO-2_Human1.43450777
38PHF8_20622853_ChIP-Seq_HELA_Human1.42406728
39ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.37351647
40CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.36552688
41GATA2_21666600_ChIP-Seq_HMVEC_Human1.35435680
42* P300_19829295_ChIP-Seq_ESCs_Human1.34190344
43CBX2_22325352_ChIP-Seq_293T-Rex_Human1.33573295
44CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.31358942
45ETV1_20927104_ChIP-Seq_GIST48_Human1.31141838
46STAT3_23295773_ChIP-Seq_U87_Human1.30775446
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.30708596
48FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.30393235
49CBP_20019798_ChIP-Seq_JUKART_Human1.29758563
50IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.29758563
51ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.29026574
52NFYA_21822215_ChIP-Seq_K562_Human1.26265618
53VDR_22108803_ChIP-Seq_LS180_Human1.25163855
54OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24410046
55SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.23315892
56NRF2_20460467_ChIP-Seq_MEFs_Mouse1.21952475
57NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.21952475
58FOXM1_26456572_ChIP-Seq_MCF-7_Human1.19957808
59TCF4_23295773_ChIP-Seq_U87_Human1.19870183
60AHR_22903824_ChIP-Seq_MCF-7_Human1.18916909
61ARNT_22903824_ChIP-Seq_MCF-7_Human1.16382191
62GATA4_21415370_ChIP-Seq_HL-1_Mouse1.15125538
63SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.14225003
64SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.13991926
65TCF4_18268006_ChIP-ChIP_LS174T_Human1.13323662
66RBPJ_21746931_ChIP-Seq_IB4_Human1.12662003
67SALL4_18804426_ChIP-ChIP_XEN_Mouse1.12391724
68PCGF2_27294783_Chip-Seq_ESCs_Mouse1.11828176
69ESR2_21235772_ChIP-Seq_MCF-7_Human1.09552353
70GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.09137472
71LXR_22158963_ChIP-Seq_LIVER_Mouse1.09038701
72* NR3C1_21868756_ChIP-Seq_MCF10A_Human1.08816495
73UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.08597767
74CDX2_22108803_ChIP-Seq_LS180_Human1.08527090
75SOX2_21211035_ChIP-Seq_LN229_Gbm1.07996184
76SMAD3_21741376_ChIP-Seq_HESCs_Human1.07783661
77GATA6_21074721_ChIP-Seq_CACO-2_Human1.07289031
78TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.06463694
79SUZ12_27294783_Chip-Seq_NPCs_Mouse1.05844676
80MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.05268724
81TOP2B_26459242_ChIP-Seq_MCF-7_Human1.04432492
82SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.04263569
83ER_23166858_ChIP-Seq_MCF-7_Human1.01878594
84TP63_23658742_ChIP-Seq_EP156T_Human1.00670183
85SMAD4_21741376_ChIP-Seq_HESCs_Human1.00036743
86FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.99220840
87NANOG_18555785_Chip-Seq_ESCs_Mouse0.99042757
88WT1_25993318_ChIP-Seq_PODOCYTE_Human0.99022164
89ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.98278385
90SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.97942836
91BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.97604431
92* KLF5_20875108_ChIP-Seq_MESCs_Mouse0.97350508
93FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.97241413
94TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96861658
95PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.96783052
96SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.96773204
97SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.96128185
98E2F1_18555785_Chip-Seq_ESCs_Mouse0.95273056
99TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.95189527
100CBP_21632823_ChIP-Seq_H3396_Human0.94634018

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system5.26629362
2MP0002837_dystrophic_cardiac_calcinosis4.81156461
3MP0004084_abnormal_cardiac_muscle4.43371369
4MP0000751_myopathy4.03748652
5MP0003011_delayed_dark_adaptation3.79506976
6MP0004215_abnormal_myocardial_fiber3.48630537
7MP0002138_abnormal_hepatobiliary_system3.32465370
8MP0004484_altered_response_of3.01238787
9MP0004036_abnormal_muscle_relaxation2.93410640
10MP0003195_calcinosis2.85532643
11MP0005330_cardiomyopathy2.81896277
12MP0006138_congestive_heart_failure2.65850443
13MP0002972_abnormal_cardiac_muscle2.64645064
14MP0003646_muscle_fatigue2.60137493
15MP0003880_abnormal_central_pattern2.42985534
16MP0005084_abnormal_gallbladder_morpholo2.35007144
17MP0008775_abnormal_heart_ventricle2.31481649
18MP0003183_abnormal_peptide_metabolism2.30585041
19MP0003950_abnormal_plasma_membrane2.30191767
20MP0000749_muscle_degeneration2.28196037
21MP0004272_abnormal_basement_membrane2.27393223
22MP0005670_abnormal_white_adipose2.23571481
23MP0002269_muscular_atrophy2.14860622
24MP0005385_cardiovascular_system_phenoty2.13554955
25MP0001544_abnormal_cardiovascular_syste2.13554955
26MP0003137_abnormal_impulse_conducting2.03797288
27MP0001666_abnormal_nutrient_absorption1.99453505
28MP0003252_abnormal_bile_duct1.94674487
29MP0004087_abnormal_muscle_fiber1.94584861
30MP0004085_abnormal_heartbeat1.93050492
31MP0001986_abnormal_taste_sensitivity1.90837468
32MP0005620_abnormal_muscle_contractility1.84294223
33MP0005165_increased_susceptibility_to1.70649387
34MP0002127_abnormal_cardiovascular_syste1.69847565
35MP0010630_abnormal_cardiac_muscle1.69155002
36MP0005365_abnormal_bile_salt1.61728063
37MP0005551_abnormal_eye_electrophysiolog1.60288351
38MP0005423_abnormal_somatic_nervous1.59505201
39MP0003828_pulmonary_edema1.53483775
40MP0000747_muscle_weakness1.53322126
41MP0003868_abnormal_feces_composition1.52807212
42MP0004510_myositis1.44808213
43MP0000003_abnormal_adipose_tissue1.35284807
44MP0004130_abnormal_muscle_cell1.33637057
45MP0009780_abnormal_chondrocyte_physiolo1.32958193
46MP0000750_abnormal_muscle_regeneration1.31130151
47MP0002234_abnormal_pharynx_morphology1.29409331
48MP0010386_abnormal_urinary_bladder1.27379778
49MP0002928_abnormal_bile_duct1.25723184
50MP0005253_abnormal_eye_physiology1.24962322
51MP0005085_abnormal_gallbladder_physiolo1.22120905
52MP0002332_abnormal_exercise_endurance1.21901384
53MP0002638_abnormal_pupillary_reflex1.19694460
54MP0004233_abnormal_muscle_weight1.17447762
55MP0002106_abnormal_muscle_physiology1.13080059
56MP0010678_abnormal_skin_adnexa1.11126729
57MP0006276_abnormal_autonomic_nervous1.09425964
58MP0003191_abnormal_cellular_cholesterol1.04568297
59MP0003879_abnormal_hair_cell1.02123505
60MP0002089_abnormal_postnatal_growth/wei1.01375101
61MP0005187_abnormal_penis_morphology0.99088423
62MP0005369_muscle_phenotype0.94738800
63MP0001502_abnormal_circadian_rhythm0.94073660
64MP0000759_abnormal_skeletal_muscle0.93756387
65MP0002295_abnormal_pulmonary_circulatio0.93616115
66MP0008569_lethality_at_weaning0.90105983
67MP0002102_abnormal_ear_morphology0.89023667
68MP0010368_abnormal_lymphatic_system0.86882611
69MP0005595_abnormal_vascular_smooth0.76593176
70MP0003941_abnormal_skin_development0.76151658
71MP0005375_adipose_tissue_phenotype0.74037040
72MP0001661_extended_life_span0.73312767
73MP0000343_altered_response_to0.73210777
74MP0005266_abnormal_metabolism0.71525917
75MP0005257_abnormal_intraocular_pressure0.70908759
76MP0005220_abnormal_exocrine_pancreas0.68592731
77MP0001984_abnormal_olfaction0.68150973
78MP0000266_abnormal_heart_morphology0.67303063
79MP0000230_abnormal_systemic_arterial0.64515762
80MP0003283_abnormal_digestive_organ0.62550660
81MP0003633_abnormal_nervous_system0.61831807
82MP0002118_abnormal_lipid_homeostasis0.60861980
83MP0001851_eye_inflammation0.59989691
84MP0001664_abnormal_digestion0.59108185
85MP0001501_abnormal_sleep_pattern0.58630283
86MP0004145_abnormal_muscle_electrophysio0.57737055
87MP0001270_distended_abdomen0.57192983
88MP0003136_yellow_coat_color0.57076853
89MP0002108_abnormal_muscle_morphology0.54153795
90MP0003959_abnormal_lean_body0.52943201
91MP0005332_abnormal_amino_acid0.52220481
92MP0006036_abnormal_mitochondrial_physio0.51570168
93MP0002128_abnormal_blood_circulation0.51335752
94MP0002229_neurodegeneration0.50489307
95MP0005195_abnormal_posterior_eye0.50076698
96MP0005197_abnormal_uvea_morphology0.49334715
97MP0004134_abnormal_chest_morphology0.48312928
98MP0006082_CNS_inflammation0.48094380
99MP0002896_abnormal_bone_mineralization0.47937118
100MP0002090_abnormal_vision0.46724804

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)6.92077896
2Bundle branch block (HP:0011710)6.77057452
3Hyporeflexia of lower limbs (HP:0002600)6.12903554
4Atrial fibrillation (HP:0005110)5.90817410
5Lipoatrophy (HP:0100578)5.58398328
6Ventricular tachycardia (HP:0004756)5.49268088
7Asymmetric septal hypertrophy (HP:0001670)5.41114249
8Primary atrial arrhythmia (HP:0001692)5.37755953
9Supraventricular tachycardia (HP:0004755)5.17609883
10Muscle fiber splitting (HP:0003555)5.14552077
11Supraventricular arrhythmia (HP:0005115)5.02464305
12Abnormality of the calf musculature (HP:0001430)4.83859538
13Dilated cardiomyopathy (HP:0001644)4.50588474
14Syncope (HP:0001279)4.47470828
15Distal lower limb muscle weakness (HP:0009053)4.29535807
16Right ventricular cardiomyopathy (HP:0011663)4.22848743
17Heart block (HP:0012722)4.16496402
18Late onset (HP:0003584)4.08962438
19Abnormal pancreas size (HP:0012094)4.05130191
20Calf muscle hypertrophy (HP:0008981)4.04219103
21Subaortic stenosis (HP:0001682)3.94161786
22Abnormality of the left ventricular outflow tract (HP:0011103)3.94161786
23EMG: myopathic abnormalities (HP:0003458)3.93779514
24Abnormal atrioventricular conduction (HP:0005150)3.84855535
25Ventricular arrhythmia (HP:0004308)3.75292630
26EMG: neuropathic changes (HP:0003445)3.67225904
27Gout (HP:0001997)3.56151397
28Muscle hypertrophy of the lower extremities (HP:0008968)3.50350563
29Congenital stationary night blindness (HP:0007642)3.48782747
30Left ventricular hypertrophy (HP:0001712)3.39682148
31Unilateral renal agenesis (HP:0000122)3.34177572
32Abnormality of proline metabolism (HP:0010907)3.32217000
33Hydroxyprolinuria (HP:0003080)3.32217000
34Prolonged QT interval (HP:0001657)3.17764460
35Glucose intolerance (HP:0000833)3.17145627
36Exocrine pancreatic insufficiency (HP:0001738)3.12548431
37Palpitations (HP:0001962)3.09757396
38Atrioventricular block (HP:0001678)3.04533680
39Central scotoma (HP:0000603)3.04095788
40Action tremor (HP:0002345)2.94270651
41Abnormality of the foot musculature (HP:0001436)2.93126662
42Resting tremor (HP:0002322)2.87823809
43Ragged-red muscle fibers (HP:0003200)2.84485473
44Abnormality of liposaccharide metabolism (HP:0010968)2.84080179
45Abnormality of glycosphingolipid metabolism (HP:0004343)2.84080179
46Abnormality of glycolipid metabolism (HP:0010969)2.84080179
47Scotoma (HP:0000575)2.81969441
48Steatorrhea (HP:0002570)2.76216827
49Areflexia of lower limbs (HP:0002522)2.75217240
50Abnormal EKG (HP:0003115)2.66302832
51Neck muscle weakness (HP:0000467)2.65487791
52Decreased electroretinogram (ERG) amplitude (HP:0000654)2.63048363
53Gonadotropin excess (HP:0000837)2.59132250
54Type 1 muscle fiber predominance (HP:0003803)2.57259686
55Palmoplantar keratoderma (HP:0000982)2.55765793
56Polar cataract (HP:0010696)2.44150491
57Ventricular fibrillation (HP:0001663)2.39983206
58Tubulointerstitial nephritis (HP:0001970)2.39834948
59Posterior subcapsular cataract (HP:0007787)2.39015816
60Myoglobinuria (HP:0002913)2.37379433
61Hypoplasia of the uterus (HP:0000013)2.36544852
62Sensorimotor neuropathy (HP:0007141)2.36450420
63Bony spicule pigmentary retinopathy (HP:0007737)2.32045010
64Foot dorsiflexor weakness (HP:0009027)2.31781880
65Congenital sensorineural hearing impairment (HP:0008527)2.29636850
66Abnormal glucose tolerance (HP:0001952)2.24224840
67Centrally nucleated skeletal muscle fibers (HP:0003687)2.22530377
68Attenuation of retinal blood vessels (HP:0007843)2.20015672
69Sudden cardiac death (HP:0001645)2.15754661
70Shawl scrotum (HP:0000049)2.12051925
71Subcapsular cataract (HP:0000523)2.09279777
72Increased purine levels (HP:0004368)2.06065279
73Hyperuricemia (HP:0002149)2.06065279
74Postural tremor (HP:0002174)2.05852565
75Increased serum pyruvate (HP:0003542)1.99375361
76Glycosuria (HP:0003076)1.98379272
77Abnormality of urine glucose concentration (HP:0011016)1.98379272
78Fat malabsorption (HP:0002630)1.95006165
79Tetraparesis (HP:0002273)1.93445597
80Tubular atrophy (HP:0000092)1.93240196
81Congestive heart failure (HP:0001635)1.90416868
82Ulnar claw (HP:0001178)1.88928893
83Cone-rod dystrophy (HP:0000548)1.83478200
84Abnormality of glutamine family amino acid metabolism (HP:0010902)1.82230896
85Difficulty running (HP:0009046)1.82110561
86Double outlet right ventricle (HP:0001719)1.81349383
87Congenital malformation of the right heart (HP:0011723)1.81349383
88Papillary thyroid carcinoma (HP:0002895)1.78884336
89Muscular dystrophy (HP:0003560)1.77869797
90Abolished electroretinogram (ERG) (HP:0000550)1.76794522
91Abnormality of glycolysis (HP:0004366)1.76220575
92Increased connective tissue (HP:0009025)1.73192858
93Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.73000047
94Autoamputation (HP:0001218)1.71905691
95Neoplasm of head and neck (HP:0012288)1.70816265
96Esophageal neoplasm (HP:0100751)1.70816265
97Steppage gait (HP:0003376)1.70190000
98Hypoproteinemia (HP:0003075)1.68817102
99Generalized muscle weakness (HP:0003324)1.68342966
100Rhabdomyolysis (HP:0003201)1.67523493

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MYLK8.68354175
2TTN5.88527579
3PINK12.89073474
4PAK32.77998654
5GRK12.50408146
6MST42.41230235
7FRK2.24639006
8DMPK2.14500952
9TRPM71.94675467
10PIK3CA1.91173490
11MAP3K121.88794360
12NTRK31.87616867
13MAP4K21.81196827
14CDK191.71383775
15BCKDK1.65355425
16PRKCE1.63396940
17INSRR1.61772355
18STK41.57787767
19PDK21.57334527
20PKN21.55509100
21NEK91.51316659
22OBSCN1.43807150
23ROCK21.32926978
24MARK11.29707708
25MUSK1.28672631
26MAP3K71.28191806
27PRKD11.22468025
28MAP3K31.19332825
29MST1R1.16936919
30ROCK11.16314307
31FLT31.09518919
32PKN11.03353095
33PLK21.01726249
34MAPKAPK30.95888250
35EPHA30.95148874
36CAMK2A0.94039135
37TIE10.89029095
38BCR0.86839374
39RPS6KL10.85537664
40RPS6KC10.85537664
41PRKAA10.85435726
42RPS6KA60.83875608
43DAPK20.81652523
44TGFBR20.79075123
45EPHA20.79025468
46MAP3K60.76980917
47BRSK20.76269498
48NEK10.75695318
49DAPK30.74986995
50MAP2K10.72840482
51STK38L0.70484445
52MAPK130.70418878
53MAP3K50.70044434
54MAPK120.69076739
55LMTK20.67991525
56ERN10.66927062
57CAMK2D0.63522866
58CASK0.63340273
59STK240.61795260
60PRKAA20.58560584
61ADRBK10.54789000
62EIF2AK30.54212835
63PRKG10.53927918
64CAMK10.48409944
65STK380.47975132
66AKT20.47313151
67MAPK70.46646933
68CAMK2G0.46162065
69FER0.45074064
70PRKACA0.44767909
71PRKACG0.42100696
72CAMK40.41875706
73AKT30.41034047
74MET0.39575731
75SGK20.38431284
76PRKCQ0.37028693
77RIPK10.36615954
78LATS10.36092960
79IRAK10.35662900
80ILK0.33977032
81PRKCA0.32513699
82EPHB20.31959474
83BRAF0.31465511
84PRKACB0.30711874
85ARAF0.30361882
86PHKG10.30287682
87PHKG20.30287682
88GRK70.29939385
89PRKCD0.29591211
90ADRBK20.29109682
91ERBB40.28724981
92CDC42BPA0.26549312
93PDK10.25362089
94PRKD20.24114913
95CAMK2B0.23934032
96PTK2B0.23665214
97RPS6KA10.22692230
98MAPK100.22442463
99EPHA40.21349369
100SGK2230.20532463

Predicted pathways (KEGG)

RankGene SetZ-score
1Pancreatic secretion_Homo sapiens_hsa049724.35894252
2Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.99558706
3Dilated cardiomyopathy_Homo sapiens_hsa054143.44793781
4Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.35348856
5Fat digestion and absorption_Homo sapiens_hsa049753.23919332
6Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.95953280
7Cardiac muscle contraction_Homo sapiens_hsa042602.92601181
8* Phototransduction_Homo sapiens_hsa047442.61192014
9Protein digestion and absorption_Homo sapiens_hsa049742.52574011
10Nitrogen metabolism_Homo sapiens_hsa009102.26239663
11Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.18428078
12Circadian rhythm_Homo sapiens_hsa047102.12768133
132-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.92059986
14Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.77389100
15Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.75316730
16Propanoate metabolism_Homo sapiens_hsa006401.73653449
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.69688732
18Glycerolipid metabolism_Homo sapiens_hsa005611.54893322
19Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.52956948
20Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.50593086
21Sphingolipid metabolism_Homo sapiens_hsa006001.39401947
22Arginine and proline metabolism_Homo sapiens_hsa003301.36566397
23alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.30627915
24Carbohydrate digestion and absorption_Homo sapiens_hsa049731.21859349
25Linoleic acid metabolism_Homo sapiens_hsa005911.20340783
26Nicotine addiction_Homo sapiens_hsa050331.16888072
27Starch and sucrose metabolism_Homo sapiens_hsa005001.07469259
28Taste transduction_Homo sapiens_hsa047421.06426896
29Morphine addiction_Homo sapiens_hsa050321.00305075
30Olfactory transduction_Homo sapiens_hsa047400.96223685
31GABAergic synapse_Homo sapiens_hsa047270.96119557
32Galactose metabolism_Homo sapiens_hsa000520.94587437
33Renin-angiotensin system_Homo sapiens_hsa046140.92993640
34Cysteine and methionine metabolism_Homo sapiens_hsa002700.91577328
35Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.91078868
36Bile secretion_Homo sapiens_hsa049760.90338964
37Fatty acid degradation_Homo sapiens_hsa000710.90146369
38Maturity onset diabetes of the young_Homo sapiens_hsa049500.88896341
39PPAR signaling pathway_Homo sapiens_hsa033200.88181917
40Ether lipid metabolism_Homo sapiens_hsa005650.87269452
41cGMP-PKG signaling pathway_Homo sapiens_hsa040220.84166235
42Insulin secretion_Homo sapiens_hsa049110.82961915
43Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.81190134
44Salivary secretion_Homo sapiens_hsa049700.77451308
45Carbon metabolism_Homo sapiens_hsa012000.77397081
46Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.76683924
47Fructose and mannose metabolism_Homo sapiens_hsa000510.75875044
48Parkinsons disease_Homo sapiens_hsa050120.74361174
49Primary bile acid biosynthesis_Homo sapiens_hsa001200.72206353
50Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.72187211
51Butanoate metabolism_Homo sapiens_hsa006500.71681853
52Phenylalanine metabolism_Homo sapiens_hsa003600.70317282
53Tryptophan metabolism_Homo sapiens_hsa003800.70167033
54Pyruvate metabolism_Homo sapiens_hsa006200.69819536
55ABC transporters_Homo sapiens_hsa020100.68060149
56Renin secretion_Homo sapiens_hsa049240.66889665
57cAMP signaling pathway_Homo sapiens_hsa040240.66439005
58Calcium signaling pathway_Homo sapiens_hsa040200.65961398
59Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.65236585
60Glycosaminoglycan degradation_Homo sapiens_hsa005310.64517571
61Circadian entrainment_Homo sapiens_hsa047130.64485737
62Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.63990986
63Vascular smooth muscle contraction_Homo sapiens_hsa042700.63249182
64Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.62693981
65Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.62276164
66Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.61580557
67Fatty acid elongation_Homo sapiens_hsa000620.60941489
68Oxidative phosphorylation_Homo sapiens_hsa001900.60305230
69ECM-receptor interaction_Homo sapiens_hsa045120.58394163
70Fatty acid metabolism_Homo sapiens_hsa012120.55620633
71Glutamatergic synapse_Homo sapiens_hsa047240.50595175
72Ovarian steroidogenesis_Homo sapiens_hsa049130.49531229
73Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.48050491
74Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.47856354
75Gastric acid secretion_Homo sapiens_hsa049710.46469242
76Alzheimers disease_Homo sapiens_hsa050100.46395780
77Focal adhesion_Homo sapiens_hsa045100.45024785
78Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.44108039
79Insulin resistance_Homo sapiens_hsa049310.43708760
80Adherens junction_Homo sapiens_hsa045200.42885933
81Cholinergic synapse_Homo sapiens_hsa047250.42857817
82Arachidonic acid metabolism_Homo sapiens_hsa005900.42725126
83Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.41982385
84Other glycan degradation_Homo sapiens_hsa005110.41875524
85Renal cell carcinoma_Homo sapiens_hsa052110.41663396
86Thyroid hormone synthesis_Homo sapiens_hsa049180.41417219
87Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.40579736
88Glycerophospholipid metabolism_Homo sapiens_hsa005640.40055710
89Cocaine addiction_Homo sapiens_hsa050300.39376696
90Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.38098317
91Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.37156726
92Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.33595291
93Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.32951232
94Dorso-ventral axis formation_Homo sapiens_hsa043200.31968162
95Type II diabetes mellitus_Homo sapiens_hsa049300.30690663
96Amphetamine addiction_Homo sapiens_hsa050310.30434325
97Estrogen signaling pathway_Homo sapiens_hsa049150.30405395
98Aldosterone synthesis and secretion_Homo sapiens_hsa049250.29438609
99Huntingtons disease_Homo sapiens_hsa050160.28898704
100Complement and coagulation cascades_Homo sapiens_hsa046100.28494020

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