ASIP

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: In mice, the agouti gene encodes a paracrine signaling molecule that causes hair follicle melanocytes to synthesize pheomelanin, a yellow pigment, instead of the black or brown pigment, eumelanin. Pleiotropic effects of constitutive expression of the mouse gene include adult-onset obesity, increased tumor susceptibility, and premature infertility. This gene is highly similar to the mouse gene and encodes a secreted protein that may (1) affect the quality of hair pigmentation, (2) act as a pharmacological antagonist of alpha-melanocyte-stimulating hormone, (3) play a role in neuroendocrine aspects of melanocortin action, and (4) have a functional role in regulating lipid metabolism in adipocytes. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1actin-myosin filament sliding (GO:0033275)9.55961627
2muscle filament sliding (GO:0030049)9.55961627
3positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)9.18368740
4ventricular cardiac muscle tissue morphogenesis (GO:0055010)7.86425030
5actin-mediated cell contraction (GO:0070252)7.68428665
6negative regulation of potassium ion transmembrane transporter activity (GO:1901017)7.67483725
7striated muscle atrophy (GO:0014891)7.67054103
8sarcomere organization (GO:0045214)7.45389443
9muscle atrophy (GO:0014889)7.36783471
10potassium ion export (GO:0071435)7.31101977
11sarcoplasmic reticulum calcium ion transport (GO:0070296)7.26482106
12cardiac muscle contraction (GO:0060048)7.15842392
13cardiac myofibril assembly (GO:0055003)6.91528513
14negative regulation of potassium ion transmembrane transport (GO:1901380)6.73935664
15skeletal muscle adaptation (GO:0043501)6.72409345
16negative regulation of protein localization to cell surface (GO:2000009)6.63177718
17positive regulation of potassium ion transmembrane transporter activity (GO:1901018)6.55703951
18cardiac muscle tissue morphogenesis (GO:0055008)6.50227726
19response to stimulus involved in regulation of muscle adaptation (GO:0014874)6.32209065
20detection of calcium ion (GO:0005513)6.07898482
21positive regulation of ATPase activity (GO:0032781)6.00764971
22positive regulation of ATP catabolic process (GO:1903291)6.00764971
23pinocytosis (GO:0006907)5.96410218
24regulation of actin filament-based movement (GO:1903115)5.77039683
25regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)5.75878069
26actin filament-based movement (GO:0030048)5.74310932
27muscle tissue morphogenesis (GO:0060415)5.70089227
28actomyosin structure organization (GO:0031032)5.49219389
29myofibril assembly (GO:0030239)5.34023318
30response to redox state (GO:0051775)5.19359740
31regulation of striated muscle contraction (GO:0006942)4.86491437
32cellular response to epinephrine stimulus (GO:0071872)4.86476964
33regulation of ATP catabolic process (GO:1903289)4.85065342
34regulation of ATPase activity (GO:0043462)4.85065342
35ventricular cardiac muscle cell action potential (GO:0086005)4.84530450
36negative regulation of potassium ion transport (GO:0043267)4.64055435
37striated muscle contraction (GO:0006941)4.63437521
38regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)4.56272224
39response to epinephrine (GO:0071871)4.50756985
40regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO4.50750453
41positive regulation of potassium ion transmembrane transport (GO:1901381)4.45571036
42calcium-mediated signaling using intracellular calcium source (GO:0035584)4.18269213
43response to caffeine (GO:0031000)4.11998545
44cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.04438558
45negative regulation of fatty acid biosynthetic process (GO:0045717)3.99041912
46regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.86139072
47cardiac muscle cell action potential involved in contraction (GO:0086002)3.64473143
48regulation of membrane repolarization (GO:0060306)3.61929721
49adenosine receptor signaling pathway (GO:0001973)3.60868500
50positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.60602852
51cardiac muscle cell action potential (GO:0086001)3.51125797
52pyrimidine deoxyribonucleotide catabolic process (GO:0009223)3.48041648
53negative regulation of myeloid cell apoptotic process (GO:0033033)3.44168635
54atrial cardiac muscle cell action potential (GO:0086014)3.38291395
55protein neddylation (GO:0045116)3.36801218
56cell communication by electrical coupling (GO:0010644)3.35534503
57regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)3.33663012
58regulation of cell communication by electrical coupling (GO:0010649)3.28867498
59toxin metabolic process (GO:0009404)3.27984846
60virion attachment to host cell (GO:0019062)3.16562727
61adhesion of symbiont to host cell (GO:0044650)3.16562727
62fatty acid beta-oxidation (GO:0006635)3.13078979
63regulation of muscle contraction (GO:0006937)3.12211446
64regulation of type B pancreatic cell apoptotic process (GO:2000674)3.11927044
65base-excision repair, AP site formation (GO:0006285)3.09958841
66muscle contraction (GO:0006936)3.06677590
67pyrimidine nucleotide catabolic process (GO:0006244)3.03807216
68muscle adaptation (GO:0043500)3.03667085
69cellular response to dexamethasone stimulus (GO:0071549)3.02858954
70immunoglobulin mediated immune response (GO:0016064)3.01767901
71positive regulation of potassium ion transport (GO:0043268)3.01547177
72mitochondrial fusion (GO:0008053)3.01337164
73regulation of heart contraction (GO:0008016)2.98880214
74cardiac muscle hypertrophy (GO:0003300)2.97367582
75hydrogen peroxide biosynthetic process (GO:0050665)2.92061159
76muscle hypertrophy (GO:0014896)2.90793595
77regulation of heart rate (GO:0002027)2.85520369
78positive regulation of ion transmembrane transporter activity (GO:0032414)2.85517334
79response to dexamethasone (GO:0071548)2.84195462
80adrenergic receptor signaling pathway (GO:0071875)2.82716560
81adhesion of symbiont to host (GO:0044406)2.81446607
82regulation of protein localization to cell surface (GO:2000008)2.79806893
83positive regulation of heart rate (GO:0010460)2.77740253
84striated muscle hypertrophy (GO:0014897)2.77423163
85nerve growth factor signaling pathway (GO:0038180)2.71192584
86striated muscle adaptation (GO:0014888)2.70204719
87muscle system process (GO:0003012)2.69345159
88cell communication involved in cardiac conduction (GO:0086065)2.65978289
893-UTR-mediated mRNA stabilization (GO:0070935)2.65563499
90regulation of synapse structural plasticity (GO:0051823)2.65510878
91regulation of muscle system process (GO:0090257)2.61834072
92focal adhesion assembly (GO:0048041)2.60157050
93cell-substrate adherens junction assembly (GO:0007045)2.60157050
94cellular response to virus (GO:0098586)2.58254883
95short-term memory (GO:0007614)2.51095888
96reactive oxygen species biosynthetic process (GO:1903409)2.50992673
97positive regulation of transporter activity (GO:0032411)2.50751865
98positive regulation of cation channel activity (GO:2001259)2.46201816
99heart process (GO:0003015)12.8846526
100heart contraction (GO:0060047)12.8846526

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse5.91665367
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.19130798
3FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.56481288
4IRF8_22096565_ChIP-ChIP_GC-B_Human4.09961437
5CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.58771235
6HTT_18923047_ChIP-ChIP_STHdh_Human2.51701536
7NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.50184414
8TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.49025354
9IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.40427420
10FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.38533454
11TBX20_22080862_ChIP-Seq_HEART_Mouse2.35851152
12TBX20_22328084_ChIP-Seq_HEART_Mouse2.35851152
13TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.23266567
14ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.22206073
15EZH2_22144423_ChIP-Seq_EOC_Human2.15805215
16GATA4_21415370_ChIP-Seq_HL-1_Mouse2.14979440
17MEF2A_21415370_ChIP-Seq_HL-1_Mouse2.13200497
18GATA3_20176728_ChIP-ChIP_TSCs_Mouse2.12091262
19BP1_19119308_ChIP-ChIP_Hs578T_Human2.06841429
20VDR_21846776_ChIP-Seq_THP-1_Human2.06835216
21EP300_21415370_ChIP-Seq_HL-1_Mouse2.06701862
22THAP11_20581084_ChIP-Seq_MESCs_Mouse2.02341223
23E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.93230686
24GATA1_22025678_ChIP-Seq_K562_Human1.91728096
25MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.85195161
26KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.85157375
27DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.73247070
28BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.72152474
29ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.67194868
30TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.64478471
31ELF1_20517297_ChIP-Seq_JURKAT_Human1.64038012
32NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.61298502
33SPI1_23127762_ChIP-Seq_K562_Human1.60295330
34GATA1_19941827_ChIP-Seq_MEL_Mouse1.60075736
35PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.59659029
36NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.57117789
37PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.56592757
38NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.56589983
39ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.55189378
40BCL6_27268052_Chip-Seq_Bcells_Human1.54603582
41CIITA_25753668_ChIP-Seq_RAJI_Human1.54565429
42SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.53806813
43RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.52100907
44VDR_24763502_ChIP-Seq_THP-1_Human1.48755757
45LXR_22292898_ChIP-Seq_THP-1_Human1.48661539
46PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.46181837
47PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.44390474
48CREB1_15753290_ChIP-ChIP_HEK293T_Human1.42796520
49ZNF263_19887448_ChIP-Seq_K562_Human1.38584186
50SRF_21415370_ChIP-Seq_HL-1_Mouse1.36022196
51SCL_19346495_ChIP-Seq_HPC-7_Human1.35999614
52AR_21909140_ChIP-Seq_LNCAP_Human1.34844078
53IRF8_27001747_Chip-Seq_BMDM_Mouse1.34740272
54IRF8_21731497_ChIP-ChIP_J774_Mouse1.33646655
55RARG_19884340_ChIP-ChIP_MEFs_Mouse1.32642919
56CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.30736248
57EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.30425057
58ELK3_25401928_ChIP-Seq_HUVEC_Human1.28668346
59STAT6_21828071_ChIP-Seq_BEAS2B_Human1.25605976
60TET1_21451524_ChIP-Seq_MESCs_Mouse1.24681663
61SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.23309674
62JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.21778525
63CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.21220030
64ATF3_27146783_Chip-Seq_COLON_Human1.20926575
65TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.13346947
66EGR1_19374776_ChIP-ChIP_THP-1_Human1.13244920
67LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.12420269
68SMC4_20622854_ChIP-Seq_HELA_Human1.12254269
69ETS1_20019798_ChIP-Seq_JURKAT_Human1.09192825
70KDM2B_26808549_Chip-Seq_DND41_Human1.08391799
71GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.08071522
72SRY_22984422_ChIP-ChIP_TESTIS_Rat1.07868791
73BCOR_27268052_Chip-Seq_Bcells_Human1.07483060
74CTCF_21964334_Chip-Seq_Bcells_Human1.05486718
75TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.03634553
76FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.03157162
77CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.02298644
78TBX5_21415370_ChIP-Seq_HL-1_Mouse1.01166753
79TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.01114084
80SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.99997118
81SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.98870165
82* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.98257172
83SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.98239063
84SPI1_23547873_ChIP-Seq_NB4_Human0.97589138
85MAF_26560356_Chip-Seq_TH1_Human0.97224819
86PHF8_20622854_ChIP-Seq_HELA_Human0.95613685
87PCGF2_27294783_Chip-Seq_NPCs_Mouse0.94681975
88GATA1_19941827_ChIP-Seq_MEL86_Mouse0.94016466
89SOX2_21211035_ChIP-Seq_LN229_Human0.93141683
90GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93015316
91SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.92811577
92THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.91914407
93LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.90362528
94TFEB_21752829_ChIP-Seq_HELA_Human0.88756160
95DNAJC2_21179169_ChIP-ChIP_NT2_Human0.88457229
96CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.86879271
97CTCF_21964334_ChIP-Seq_BJAB-B_Human0.85509781
98ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.85204302
99KDM2B_26808549_Chip-Seq_SUP-B15_Human0.84972142
100SPI1_20517297_ChIP-Seq_HL60_Human0.83269242

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002837_dystrophic_cardiac_calcinosis9.58688545
2MP0004084_abnormal_cardiac_muscle7.31744139
3MP0004215_abnormal_myocardial_fiber5.71258425
4MP0004036_abnormal_muscle_relaxation4.76089143
5MP0003646_muscle_fatigue4.36510000
6MP0005330_cardiomyopathy3.66909877
7MP0003828_pulmonary_edema3.48810816
8MP0003137_abnormal_impulse_conducting3.43255224
9MP0004510_myositis3.12576612
10MP0000751_myopathy2.64328003
11MP0009840_abnormal_foam_cell2.53766115
12MP0006138_congestive_heart_failure2.40633601
13MP0008004_abnormal_stomach_pH2.33505115
14MP0002972_abnormal_cardiac_muscle2.31651841
15MP0005451_abnormal_body_composition2.29275972
16MP0008775_abnormal_heart_ventricle2.17549398
17MP0002254_reproductive_system_inflammat2.02253786
18MP0004087_abnormal_muscle_fiber1.98463186
19MP0002269_muscular_atrophy1.94668215
20MP0005666_abnormal_adipose_tissue1.90758432
21MP0002127_abnormal_cardiovascular_syste1.83910722
22MP0000343_altered_response_to1.71368757
23MP0005620_abnormal_muscle_contractility1.69007085
24MP0005385_cardiovascular_system_phenoty1.67266811
25MP0001544_abnormal_cardiovascular_syste1.67266811
26MP0000749_muscle_degeneration1.64831344
27MP0010630_abnormal_cardiac_muscle1.61879556
28MP0004085_abnormal_heartbeat1.54156737
29MP0005670_abnormal_white_adipose1.49511657
30MP0006036_abnormal_mitochondrial_physio1.36116107
31MP0002332_abnormal_exercise_endurance1.31368105
32MP0005058_abnormal_lysosome_morphology1.21608921
33MP0008438_abnormal_cutaneous_collagen1.20796404
34MP0003195_calcinosis1.17802129
35MP0005375_adipose_tissue_phenotype1.14885813
36MP0005167_abnormal_blood-brain_barrier1.00810730
37MP0003136_yellow_coat_color0.96499172
38MP0004185_abnormal_adipocyte_glucose0.95777491
39MP0004145_abnormal_muscle_electrophysio0.95357451
40MP0003221_abnormal_cardiomyocyte_apopto0.95065775
41MP0000372_irregular_coat_pigmentation0.92601824
42MP0005165_increased_susceptibility_to0.90806543
43MP0003303_peritoneal_inflammation0.88517444
44MP0002148_abnormal_hypersensitivity_rea0.88231731
45MP0000759_abnormal_skeletal_muscle0.88040468
46MP0000747_muscle_weakness0.87442215
47MP0001727_abnormal_embryo_implantation0.86809926
48MP0004484_altered_response_of0.86709632
49MP0004130_abnormal_muscle_cell0.84015847
50MP0002106_abnormal_muscle_physiology0.83663446
51MP0005266_abnormal_metabolism0.75975130
52MP0005275_abnormal_skin_tensile0.71780726
53MP0008961_abnormal_basal_metabolism0.71594747
54MP0005647_abnormal_sex_gland0.70652221
55MP0003806_abnormal_nucleotide_metabolis0.69012077
56MP0000003_abnormal_adipose_tissue0.67211946
57MP0003186_abnormal_redox_activity0.65176060
58MP0003693_abnormal_embryo_hatching0.63338248
59MP0003075_altered_response_to0.63024351
60MP0008260_abnormal_autophagy0.62953085
61MP0006082_CNS_inflammation0.62754944
62MP0002090_abnormal_vision0.61683262
63MP0002998_abnormal_bone_remodeling0.61363724
64MP0003329_amyloid_beta_deposits0.59615906
65MP0005369_muscle_phenotype0.59322140
66MP0000685_abnormal_immune_system0.57643210
67MP0000604_amyloidosis0.57231308
68MP0003634_abnormal_glial_cell0.53595546
69MP0009785_altered_susceptibility_to0.52910535
70MP0000266_abnormal_heart_morphology0.50854045
71MP0005025_abnormal_response_to0.48789976
72MP0005408_hypopigmentation0.47713124
73MP0006035_abnormal_mitochondrial_morpho0.46325331
74MP0005535_abnormal_body_temperature0.44469005
75MP0000013_abnormal_adipose_tissue0.43994710
76MP0000750_abnormal_muscle_regeneration0.41548601
77MP0005387_immune_system_phenotype0.38258301
78MP0001790_abnormal_immune_system0.38258301
79MP0006072_abnormal_retinal_apoptosis0.38114181
80MP0002139_abnormal_hepatobiliary_system0.35637073
81MP0000358_abnormal_cell_content/0.35526621
82MP0002419_abnormal_innate_immunity0.34888064
83MP0005166_decreased_susceptibility_to0.33139933
84MP0005410_abnormal_fertilization0.32576561
85MP0001873_stomach_inflammation0.32544118
86MP0000858_altered_metastatic_potential0.32450449
87MP0000249_abnormal_blood_vessel0.32058511
88MP0002128_abnormal_blood_circulation0.31859946
89MP0002088_abnormal_embryonic_growth/wei0.29923764
90MP0009278_abnormal_bone_marrow0.29703643
91MP0008874_decreased_physiological_sensi0.29453583
92MP0003984_embryonic_growth_retardation0.29098098
93MP0005584_abnormal_enzyme/coenzyme_acti0.27585596
94MP0001784_abnormal_fluid_regulation0.26369944
95MP0002452_abnormal_antigen_presenting0.26144792
96MP0009764_decreased_sensitivity_to0.25551322
97MP0000767_abnormal_smooth_muscle0.24330931
98MP0002723_abnormal_immune_serum0.23534464
99MP0002876_abnormal_thyroid_physiology0.23165247
100MP0005253_abnormal_eye_physiology0.22899032

Predicted human phenotypes

RankGene SetZ-score
1Sudden death (HP:0001699)9.40972520
2Ventricular tachycardia (HP:0004756)8.99221926
3Right ventricular cardiomyopathy (HP:0011663)7.60013442
4Atrial fibrillation (HP:0005110)6.48686848
5Supraventricular tachycardia (HP:0004755)5.86257101
6Generalized aminoaciduria (HP:0002909)5.86208514
7Primary atrial arrhythmia (HP:0001692)5.84186870
8Lipoatrophy (HP:0100578)5.72959896
9Supraventricular arrhythmia (HP:0005115)5.67794423
10Nausea (HP:0002018)5.48839407
11Exercise-induced myalgia (HP:0003738)5.38503052
12Syncope (HP:0001279)5.23604115
13Dilated cardiomyopathy (HP:0001644)5.03108616
14Ventricular arrhythmia (HP:0004308)3.90723871
15Hyporeflexia of lower limbs (HP:0002600)3.87790875
16Proximal tubulopathy (HP:0000114)3.82424113
17Hypoglycemic coma (HP:0001325)3.81112164
18Limb-girdle muscle atrophy (HP:0003797)3.71717682
19Abnormality of fatty-acid metabolism (HP:0004359)3.66558496
20Renal cortical cysts (HP:0000803)3.60504277
21Prolonged QT interval (HP:0001657)3.59092320
22Bundle branch block (HP:0011710)3.53511408
23Myoglobinuria (HP:0002913)3.36608178
24Abnormality of dicarboxylic acid metabolism (HP:0010995)3.28044191
25Dicarboxylic aciduria (HP:0003215)3.28044191
26EMG: myopathic abnormalities (HP:0003458)3.06443519
27Abnormality of the calf musculature (HP:0001430)3.03317680
28Frequent falls (HP:0002359)3.01798066
29Abnormality of liposaccharide metabolism (HP:0010968)3.00209995
30Abnormality of glycosphingolipid metabolism (HP:0004343)3.00209995
31Abnormality of glycolipid metabolism (HP:0010969)3.00209995
32Resting tremor (HP:0002322)2.95317343
33Atrioventricular block (HP:0001678)2.92649425
34Muscle fiber splitting (HP:0003555)2.91094156
35Tongue fasciculations (HP:0001308)2.88657727
36Hepatic necrosis (HP:0002605)2.87259051
37Exercise-induced muscle cramps (HP:0003710)2.75018842
38Neonatal death (HP:0003811)2.73960944
39Abnormal EKG (HP:0003115)2.67805005
40Muscle fibrillation (HP:0010546)2.65564478
41Rhabdomyolysis (HP:0003201)2.60773703
42Agnosia (HP:0010524)2.52377476
43Left ventricular hypertrophy (HP:0001712)2.51797876
44Asymmetric septal hypertrophy (HP:0001670)2.51185725
45Hypokinesia (HP:0002375)2.48962395
46Palpitations (HP:0001962)2.47251900
47Multiple enchondromatosis (HP:0005701)2.47040426
48Progressive muscle weakness (HP:0003323)2.43998610
49Neck muscle weakness (HP:0000467)2.38156900
50Palmoplantar keratoderma (HP:0000982)2.33960494
51Ragged-red muscle fibers (HP:0003200)2.31515497
52Abnormality of the foot musculature (HP:0001436)2.27353841
53Abnormal atrioventricular conduction (HP:0005150)2.25419818
54Heart block (HP:0012722)2.24531052
55Foot dorsiflexor weakness (HP:0009027)2.23332977
56Fasciculations (HP:0002380)2.18872038
57Abnormality of the vocal cords (HP:0008777)2.17985446
58Skin nodule (HP:0200036)2.16469622
59Increased variability in muscle fiber diameter (HP:0003557)2.15983268
60Upper limb amyotrophy (HP:0009129)2.14910595
61Distal upper limb amyotrophy (HP:0007149)2.14910595
62Abnormality of urine glucose concentration (HP:0011016)2.10387238
63Glycosuria (HP:0003076)2.10387238
64Sudden cardiac death (HP:0001645)2.10079094
65Increased cerebral lipofuscin (HP:0011813)2.04889036
66Scapular winging (HP:0003691)2.04314458
67Axonal loss (HP:0003447)2.00724211
68Increased connective tissue (HP:0009025)1.98414356
69Reduced antithrombin III activity (HP:0001976)1.97724601
70Cerebral edema (HP:0002181)1.96935579
71Hand muscle atrophy (HP:0009130)1.95729287
72Papilledema (HP:0001085)1.92468312
73Disinhibition (HP:0000734)1.90647544
74Abnormality of skeletal muscle fiber size (HP:0012084)1.88223021
75Biliary tract neoplasm (HP:0100574)1.87243243
76Recurrent gram-negative bacterial infections (HP:0005420)1.84629181
77Tinnitus (HP:0000360)1.81682544
78Pulmonary fibrosis (HP:0002206)1.76773859
79Global brain atrophy (HP:0002283)1.73729840
80Bulbar palsy (HP:0001283)1.73336694
81Renal Fanconi syndrome (HP:0001994)1.72872482
82Centrally nucleated skeletal muscle fibers (HP:0003687)1.71069440
83Distal lower limb muscle weakness (HP:0009053)1.70721151
84Athetosis (HP:0002305)1.70491209
85Increased serum pyruvate (HP:0003542)1.70200479
86Acute necrotizing encephalopathy (HP:0006965)1.69806450
87Ventricular fibrillation (HP:0001663)1.65939892
88Abnormality of the left ventricular outflow tract (HP:0011103)1.64080296
89Subaortic stenosis (HP:0001682)1.64080296
90Lymphangioma (HP:0100764)1.62674436
91Impaired proprioception (HP:0010831)1.61862918
92Upper motor neuron abnormality (HP:0002127)1.61324011
93Gastrointestinal stroma tumor (HP:0100723)1.61020845
94Exercise intolerance (HP:0003546)1.58983361
95Respiratory insufficiency due to muscle weakness (HP:0002747)1.56957382
96Congestive heart failure (HP:0001635)1.56072787
97Metaphyseal cupping (HP:0003021)1.54841953
98Respiratory distress (HP:0002098)1.53509570
99Abnormal mitochondria in muscle tissue (HP:0008316)1.53186989
100Impaired pain sensation (HP:0007328)1.53057086

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC42BPA6.14579150
2STK164.94478834
3DAPK34.88529437
4MAP3K54.02163131
5TAOK13.30584875
6DMPK2.93256937
7TBK12.73802120
8ROCK12.63584791
9NEK92.44749405
10PLK42.18676587
11ERN12.08022676
12PINK12.01341438
13PIM21.97092524
14VRK21.75358298
15IRAK31.70066349
16ARAF1.68995027
17MAPK121.67674110
18TGFBR21.63575638
19MAPKAPK31.61060743
20MUSK1.58697684
21PRKD11.43366393
22IKBKE1.43278448
23TIE11.38559169
24PRKAA21.33308340
25CAMK2D1.33123764
26UHMK11.27491902
27KDR1.23101870
28CAMKK21.22119031
29MAP3K111.21550487
30PRKG21.13179839
31PRKCE1.07751006
32ACVR1B1.02328483
33MAP3K31.01772086
34ABL21.00883146
35BCKDK0.99924821
36TTN0.99442725
37RAF10.99389248
38LMTK20.94269224
39MYLK0.86248929
40BRSK20.84242540
41TTK0.83740609
42BLK0.79617383
43RPS6KA10.77862755
44PRKCH0.76660068
45CDK120.76418015
46RPS6KC10.76099046
47RPS6KL10.76099046
48RPS6KA20.75653597
49NME20.73889287
50IRAK20.71743332
51RIPK40.71112930
52BRAF0.67078295
53CAMK2A0.66692338
54EEF2K0.66397336
55MAPK40.66209092
56TYRO30.65828856
57GRK70.62057664
58RPS6KA60.61717824
59MAP4K20.61419726
60SMG10.60928153
61PRKACG0.60214288
62DDR20.58799463
63TAOK20.55775027
64OBSCN0.55208991
65CAMK1G0.54465662
66SCYL20.53918877
67PAK60.52427004
68ROCK20.51994967
69ERBB30.51573125
70MAP2K30.49006448
71AKT20.48804478
72PRKG10.48538740
73PRKAA10.47730588
74KSR20.42308313
75MTOR0.42179094
76MAP2K10.40670505
77CCNB10.39676320
78MAPKAPK20.35934880
79MST1R0.35457618
80CAMK1D0.33163426
81BRSK10.33005810
82PRKACA0.31502375
83PAK30.31154420
84SGK20.29757729
85CSF1R0.29308149
86PRKACB0.29099926
87PRKD20.28019686
88PDGFRA0.27869609
89STK40.25587236
90RIPK10.22855480
91WEE10.20716796
92AKT10.19658409
93PRKCD0.19063244
94SGK30.18883666
95MAPK100.17783159
96DAPK20.17654739
97STK110.17173940
98PIK3CA0.16567406
99CHUK0.16107466
100RPS6KA30.15106788

Predicted pathways (KEGG)

RankGene SetZ-score
1Cardiac muscle contraction_Homo sapiens_hsa042606.50606844
2Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054105.92357471
3Dilated cardiomyopathy_Homo sapiens_hsa054145.85402171
42-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.42333434
5Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.83915874
6Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.45189515
7Lysosome_Homo sapiens_hsa041422.16661224
8Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.91188969
9Parkinsons disease_Homo sapiens_hsa050121.72737868
10Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.68336226
11Biosynthesis of amino acids_Homo sapiens_hsa012301.63433129
12Carbon metabolism_Homo sapiens_hsa012001.57142749
13Other glycan degradation_Homo sapiens_hsa005111.43764355
14Cyanoamino acid metabolism_Homo sapiens_hsa004601.33551998
15Oxidative phosphorylation_Homo sapiens_hsa001901.30564485
16Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.29091804
17Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.24608843
18Phenylalanine metabolism_Homo sapiens_hsa003601.19064169
19Staphylococcus aureus infection_Homo sapiens_hsa051501.15901322
20PPAR signaling pathway_Homo sapiens_hsa033201.15158715
21Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.14405113
22VEGF signaling pathway_Homo sapiens_hsa043701.12951513
23Sulfur relay system_Homo sapiens_hsa041221.10533448
24Leukocyte transendothelial migration_Homo sapiens_hsa046701.09556472
25Asthma_Homo sapiens_hsa053101.07381695
26Glycosaminoglycan degradation_Homo sapiens_hsa005311.02475486
27Focal adhesion_Homo sapiens_hsa045100.98192980
28Glutathione metabolism_Homo sapiens_hsa004800.93253493
29Vascular smooth muscle contraction_Homo sapiens_hsa042700.91129541
30Alzheimers disease_Homo sapiens_hsa050100.90611425
31Fatty acid degradation_Homo sapiens_hsa000710.88869433
32Antigen processing and presentation_Homo sapiens_hsa046120.84458085
33Fatty acid metabolism_Homo sapiens_hsa012120.84335826
34B cell receptor signaling pathway_Homo sapiens_hsa046620.83355817
35Rheumatoid arthritis_Homo sapiens_hsa053230.83097183
36Amoebiasis_Homo sapiens_hsa051460.81926696
37Tryptophan metabolism_Homo sapiens_hsa003800.81230786
38Fructose and mannose metabolism_Homo sapiens_hsa000510.80005389
39Intestinal immune network for IgA production_Homo sapiens_hsa046720.79971047
40Osteoclast differentiation_Homo sapiens_hsa043800.78540549
41Base excision repair_Homo sapiens_hsa034100.78496478
42Oxytocin signaling pathway_Homo sapiens_hsa049210.75740145
43Regulation of actin cytoskeleton_Homo sapiens_hsa048100.74189765
44Ovarian steroidogenesis_Homo sapiens_hsa049130.73642584
45Renin secretion_Homo sapiens_hsa049240.73402011
46Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.71771217
47Huntingtons disease_Homo sapiens_hsa050160.70696801
48Tuberculosis_Homo sapiens_hsa051520.70030679
49Leishmaniasis_Homo sapiens_hsa051400.66460819
50Insulin resistance_Homo sapiens_hsa049310.65495898
51Pentose phosphate pathway_Homo sapiens_hsa000300.63406330
52Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.62752615
53Malaria_Homo sapiens_hsa051440.60428015
54Sphingolipid metabolism_Homo sapiens_hsa006000.58640740
55Arginine and proline metabolism_Homo sapiens_hsa003300.58042877
56Allograft rejection_Homo sapiens_hsa053300.56255103
57Tight junction_Homo sapiens_hsa045300.52511184
58Tyrosine metabolism_Homo sapiens_hsa003500.52395470
59Viral myocarditis_Homo sapiens_hsa054160.51087193
60RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.49849344
61Fanconi anemia pathway_Homo sapiens_hsa034600.49840041
62Graft-versus-host disease_Homo sapiens_hsa053320.49733838
63Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.48668252
64Complement and coagulation cascades_Homo sapiens_hsa046100.46680685
65Neurotrophin signaling pathway_Homo sapiens_hsa047220.46225728
66Systemic lupus erythematosus_Homo sapiens_hsa053220.45758436
67Hepatitis C_Homo sapiens_hsa051600.45316835
68Peroxisome_Homo sapiens_hsa041460.44551355
69Autoimmune thyroid disease_Homo sapiens_hsa053200.44378431
70Pertussis_Homo sapiens_hsa051330.44348920
71SNARE interactions in vesicular transport_Homo sapiens_hsa041300.43987538
72Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.42124681
73Pancreatic secretion_Homo sapiens_hsa049720.42063840
74Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.42057555
75Jak-STAT signaling pathway_Homo sapiens_hsa046300.40003792
76Primary immunodeficiency_Homo sapiens_hsa053400.39560595
77Hematopoietic cell lineage_Homo sapiens_hsa046400.39436272
78Ether lipid metabolism_Homo sapiens_hsa005650.37314301
79Vibrio cholerae infection_Homo sapiens_hsa051100.37138766
80NF-kappa B signaling pathway_Homo sapiens_hsa040640.36755765
81Prion diseases_Homo sapiens_hsa050200.36611325
82Adipocytokine signaling pathway_Homo sapiens_hsa049200.36336567
83Regulation of autophagy_Homo sapiens_hsa041400.33829402
84Purine metabolism_Homo sapiens_hsa002300.32487365
85cGMP-PKG signaling pathway_Homo sapiens_hsa040220.31111412
86Type I diabetes mellitus_Homo sapiens_hsa049400.30687018
87Pyruvate metabolism_Homo sapiens_hsa006200.30557588
88Toll-like receptor signaling pathway_Homo sapiens_hsa046200.29098108
89Longevity regulating pathway - mammal_Homo sapiens_hsa042110.28880147
90Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.28720408
91Glycerophospholipid metabolism_Homo sapiens_hsa005640.27873387
92Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.27124306
93cAMP signaling pathway_Homo sapiens_hsa040240.25610412
94Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.25445201
95Adherens junction_Homo sapiens_hsa045200.22681766
96Insulin secretion_Homo sapiens_hsa049110.22515123
97Platelet activation_Homo sapiens_hsa046110.20495943
98Herpes simplex infection_Homo sapiens_hsa051680.20087501
99Apoptosis_Homo sapiens_hsa042100.18889879
100Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.18836629

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