ABCA8

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: The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the ABC1 subfamily. Members of the ABC1 subfamily comprise the only major ABC subfamily found exclusively in multicellular eukaryotes. The encoded protein may regulate lipid metabolism and be involved in the formation and maintenance of myelin. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1central nervous system myelination (GO:0022010)4.01940764
2axon ensheathment in central nervous system (GO:0032291)4.01940764
3positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.82817759
4peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.82098422
5regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.80051548
6regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.79502672
7complement activation, alternative pathway (GO:0006957)3.71677074
8regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.58357647
9membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.52420942
10cardiac myofibril assembly (GO:0055003)3.47345134
11cellular response to epinephrine stimulus (GO:0071872)3.37609178
12myofibril assembly (GO:0030239)3.35491922
13regulation of calcineurin-NFAT signaling cascade (GO:0070884)3.35346044
14ethanol oxidation (GO:0006069)3.34720814
15response to epinephrine (GO:0071871)3.32605565
16glucocorticoid biosynthetic process (GO:0006704)3.19911796
17muscle filament sliding (GO:0030049)3.16121761
18actin-myosin filament sliding (GO:0033275)3.16121761
19cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.11716468
20regulation of complement activation (GO:0030449)3.11562722
21regulation of protein activation cascade (GO:2000257)3.09339119
22positive regulation of phosphoprotein phosphatase activity (GO:0032516)3.09221163
23regulation of cell communication by electrical coupling (GO:0010649)3.06804536
24regulation of actin filament-based movement (GO:1903115)3.06559254
25regulation of relaxation of muscle (GO:1901077)2.98725639
26cardiac muscle contraction (GO:0060048)2.93790683
27negative regulation of cytosolic calcium ion concentration (GO:0051481)2.90694629
28cGMP-mediated signaling (GO:0019934)2.90224015
29detection of calcium ion (GO:0005513)2.88541982
30regulation of sequestering of triglyceride (GO:0010889)2.87607045
31exogenous drug catabolic process (GO:0042738)2.86095941
32epoxygenase P450 pathway (GO:0019373)2.84530052
33sarcomere organization (GO:0045214)2.79046664
34extracellular matrix assembly (GO:0085029)2.78245491
35actin-mediated cell contraction (GO:0070252)2.73122799
36fatty acid transmembrane transport (GO:1902001)2.69087685
37drug catabolic process (GO:0042737)2.68882364
38striated muscle hypertrophy (GO:0014897)2.68454219
39regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.67466582
40negative regulation of protein localization to cell surface (GO:2000009)2.66695306
41cardiac muscle hypertrophy (GO:0003300)2.64882686
42sarcoplasmic reticulum calcium ion transport (GO:0070296)2.64873767
43regulation of lipoprotein metabolic process (GO:0050746)2.63761138
44myelination in peripheral nervous system (GO:0022011)2.57096490
45peripheral nervous system axon ensheathment (GO:0032292)2.57096490
46muscle hypertrophy (GO:0014896)2.55913570
47negative regulation of complement activation (GO:0045916)2.53509694
48cell communication by electrical coupling (GO:0010644)2.51928700
49neuronal ion channel clustering (GO:0045161)2.50130107
50positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.50018635
51negative regulation of protein activation cascade (GO:2000258)2.49868337
52regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.48163221
53omega-hydroxylase P450 pathway (GO:0097267)2.47257027
54regulation of membrane repolarization (GO:0060306)2.47184543
55regulation of striated muscle contraction (GO:0006942)2.46794866
56ethanol metabolic process (GO:0006067)2.46687325
57regulation of cardiac muscle cell contraction (GO:0086004)2.46002399
58striated muscle contraction (GO:0006941)2.40966661
59cellular sodium ion homeostasis (GO:0006883)2.40700044
60response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.40217267
61cell communication involved in cardiac conduction (GO:0086065)2.40006517
62carnitine shuttle (GO:0006853)2.39768990
63glucocorticoid metabolic process (GO:0008211)2.39702032
64creatine metabolic process (GO:0006600)2.39458706
65regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.37280774
66actomyosin structure organization (GO:0031032)2.35138674
67response to catecholamine (GO:0071869)2.34922595
68response to monoamine (GO:0071867)2.34922595
69regulation of the force of heart contraction (GO:0002026)2.33994039
70glomerular basement membrane development (GO:0032836)2.33991419
71regulation of skeletal muscle contraction (GO:0014819)2.33149853
72toxin metabolic process (GO:0009404)2.30385877
73cellular response to monoamine stimulus (GO:0071868)2.30157719
74cellular response to catecholamine stimulus (GO:0071870)2.30157719
75response to methylmercury (GO:0051597)2.29403359
76regulation of cardiac muscle contraction (GO:0055117)2.25708298
77relaxation of cardiac muscle (GO:0055119)2.25686602
78triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.24114788
79positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.23876811
80cyclic nucleotide catabolic process (GO:0009214)2.23165968
81cellular response to growth hormone stimulus (GO:0071378)2.22391290
82complement activation (GO:0006956)2.22239867
83astrocyte development (GO:0014002)2.22126923
84neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)2.17353488
85blood coagulation, intrinsic pathway (GO:0007597)2.16886007
86protein activation cascade (GO:0072376)2.15575480
87cellular response to dexamethasone stimulus (GO:0071549)2.15505218
88drug metabolic process (GO:0017144)2.14729914
89cGMP metabolic process (GO:0046068)2.14272960
90glomerular filtration (GO:0003094)2.13836999
91erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.13805420
92L-phenylalanine catabolic process (GO:0006559)2.13805420
93positive regulation of cardiac muscle hypertrophy (GO:0010613)2.12334903
94positive regulation of muscle hypertrophy (GO:0014742)2.12334903
95bile acid biosynthetic process (GO:0006699)2.11716652
96membrane depolarization during action potential (GO:0086010)2.11163025
97regulation of female receptivity (GO:0045924)2.10952396
98complement activation, classical pathway (GO:0006958)2.10272937
99acylglycerol homeostasis (GO:0055090)2.09680987
100triglyceride homeostasis (GO:0070328)2.09680987

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human3.52653721
2GBX2_23144817_ChIP-Seq_PC3_Human2.90888890
3EP300_21415370_ChIP-Seq_HL-1_Mouse2.08688108
4GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.07891555
5CDX2_19796622_ChIP-Seq_MESCs_Mouse2.07317664
6SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.02136244
7CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.01856470
8ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.99446015
9SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.95875460
10TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.87010230
11TRIM28_21343339_ChIP-Seq_HEK293_Human1.80733622
12PIAS1_25552417_ChIP-Seq_VCAP_Human1.79603942
13ZFP57_27257070_Chip-Seq_ESCs_Mouse1.78967790
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.72404306
15PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.71848026
16DROSHA_22980978_ChIP-Seq_HELA_Human1.70087542
17SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.68253396
18* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.65977738
19EED_16625203_ChIP-ChIP_MESCs_Mouse1.65736259
20AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.65591724
21PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.65233807
22EZH2_18974828_ChIP-Seq_MESCs_Mouse1.61310656
23RNF2_18974828_ChIP-Seq_MESCs_Mouse1.61310656
24MTF2_20144788_ChIP-Seq_MESCs_Mouse1.58579344
25SMAD4_21799915_ChIP-Seq_A2780_Human1.54687997
26RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.52282946
27NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.50797051
28POU3F2_20337985_ChIP-ChIP_501MEL_Human1.50648511
29GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.50335426
30JARID2_20075857_ChIP-Seq_MESCs_Mouse1.46667187
31SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.46304035
32ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.45664059
33VDR_22108803_ChIP-Seq_LS180_Human1.45635892
34SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.45062204
35SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.44131467
36SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.44070312
37EZH2_27304074_Chip-Seq_ESCs_Mouse1.43140292
38AR_21572438_ChIP-Seq_LNCaP_Human1.41227154
39FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.40737263
40LXR_22158963_ChIP-Seq_LIVER_Mouse1.38961000
41JARID2_20064375_ChIP-Seq_MESCs_Mouse1.37110606
42EZH2_27294783_Chip-Seq_ESCs_Mouse1.36193557
43NRF2_20460467_ChIP-Seq_MEFs_Mouse1.32283644
44NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.32283644
45NR3C1_23031785_ChIP-Seq_PC12_Mouse1.30654688
46RNF2_27304074_Chip-Seq_ESCs_Mouse1.30493292
47OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.27742294
48STAT3_23295773_ChIP-Seq_U87_Human1.27529239
49CTBP2_25329375_ChIP-Seq_LNCAP_Human1.27509902
50* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.26917724
51* BCAT_22108803_ChIP-Seq_LS180_Human1.25458619
52P300_19829295_ChIP-Seq_ESCs_Human1.23070400
53TP53_16413492_ChIP-PET_HCT116_Human1.22804852
54NR3C1_21868756_ChIP-Seq_MCF10A_Human1.20512347
55MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.20499080
56CBX2_27304074_Chip-Seq_ESCs_Mouse1.19643472
57TCF4_23295773_ChIP-Seq_U87_Human1.19629961
58CJUN_26792858_Chip-Seq_BT549_Human1.18817900
59TAF15_26573619_Chip-Seq_HEK293_Human1.17910946
60SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.17704099
61WT1_25993318_ChIP-Seq_PODOCYTE_Human1.17358636
62CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.17038167
63SOX2_21211035_ChIP-Seq_LN229_Gbm1.15736547
64PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.14280999
65* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.14211945
66* SMAD3_21741376_ChIP-Seq_EPCs_Human1.12642662
67ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.11950231
68AHR_22903824_ChIP-Seq_MCF-7_Human1.11385464
69SUZ12_27294783_Chip-Seq_ESCs_Mouse1.11140239
70PCGF2_27294783_Chip-Seq_NPCs_Mouse1.10335827
71TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.09902282
72MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.08533105
73AR_25329375_ChIP-Seq_VCAP_Human1.06040628
74TBX20_22080862_ChIP-Seq_HEART_Mouse1.05998922
75TBX20_22328084_ChIP-Seq_HEART_Mouse1.05998922
76RXR_22158963_ChIP-Seq_LIVER_Mouse1.05507478
77* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.03685428
78EZH2_27294783_Chip-Seq_NPCs_Mouse1.02662922
79RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.02498344
80SMAD4_21741376_ChIP-Seq_HESCs_Human1.02348584
81SMAD3_21741376_ChIP-Seq_HESCs_Human1.02316393
82TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02088319
83POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.02088319
84TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.01905235
85TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.00635193
86SUZ12_27294783_Chip-Seq_NPCs_Mouse1.00582981
87ARNT_22903824_ChIP-Seq_MCF-7_Human1.00410814
88EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.00397536
89SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.98979539
90MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98936693
91EGR1_23403033_ChIP-Seq_LIVER_Mouse0.98303928
92LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97953822
93IGF1R_20145208_ChIP-Seq_DFB_Human0.97355724
94* SMAD_19615063_ChIP-ChIP_OVARY_Human0.97109527
95NANOG_18555785_Chip-Seq_ESCs_Mouse0.97009494
96* CTNNB1_20460455_ChIP-Seq_HCT116_Human0.96791786
97PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.96427785
98EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.96237562
99GATA1_22025678_ChIP-Seq_K562_Human0.96204168
100TP53_18474530_ChIP-ChIP_U2OS_Human0.95195581

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005503_abnormal_tendon_morphology3.50529341
2MP0000751_myopathy3.44240206
3MP0008438_abnormal_cutaneous_collagen3.30588796
4MP0005275_abnormal_skin_tensile3.17466416
5MP0005670_abnormal_white_adipose3.15531271
6MP0004084_abnormal_cardiac_muscle3.14455132
7MP0004215_abnormal_myocardial_fiber2.62638946
8MP0004036_abnormal_muscle_relaxation2.58811550
9MP0002837_dystrophic_cardiac_calcinosis2.45223280
10MP0010368_abnormal_lymphatic_system2.42503066
11MP0004130_abnormal_muscle_cell2.31975892
12MP0003646_muscle_fatigue2.31607170
13MP0001958_emphysema2.23338749
14MP0000749_muscle_degeneration2.11692208
15MP0002108_abnormal_muscle_morphology2.09889515
16MP0004145_abnormal_muscle_electrophysio2.05031640
17MP0009780_abnormal_chondrocyte_physiolo2.01117236
18MP0001661_extended_life_span1.79451886
19MP0008775_abnormal_heart_ventricle1.75789479
20MP0006138_congestive_heart_failure1.73824638
21MP0003690_abnormal_glial_cell1.73251841
22MP0005620_abnormal_muscle_contractility1.65004439
23MP0004272_abnormal_basement_membrane1.62113968
24MP0002638_abnormal_pupillary_reflex1.60927688
25MP0005330_cardiomyopathy1.56145158
26MP0004087_abnormal_muscle_fiber1.52541534
27MP0002295_abnormal_pulmonary_circulatio1.49248620
28MP0002971_abnormal_brown_adipose1.46791607
29MP0002876_abnormal_thyroid_physiology1.46409682
30MP0000747_muscle_weakness1.43371160
31MP0003279_aneurysm1.41748418
32MP0002972_abnormal_cardiac_muscle1.41658292
33MP0003950_abnormal_plasma_membrane1.36956559
34MP0004484_altered_response_of1.35854052
35MP0005369_muscle_phenotype1.35380545
36MP0005595_abnormal_vascular_smooth1.34915732
37MP0001501_abnormal_sleep_pattern1.34224280
38MP0001486_abnormal_startle_reflex1.33679626
39MP0000013_abnormal_adipose_tissue1.33265859
40MP0003137_abnormal_impulse_conducting1.32836511
41MP0001984_abnormal_olfaction1.32736252
42MP0005385_cardiovascular_system_phenoty1.32595739
43MP0001544_abnormal_cardiovascular_syste1.32595739
44MP0000920_abnormal_myelination1.30955540
45MP0004085_abnormal_heartbeat1.28262835
46MP0008875_abnormal_xenobiotic_pharmacok1.25188297
47MP0002269_muscular_atrophy1.23621226
48MP0003011_delayed_dark_adaptation1.22163120
49MP0002272_abnormal_nervous_system1.21807921
50MP0005171_absent_coat_pigmentation1.21017253
51MP0010329_abnormal_lipoprotein_level1.20927403
52MP0002106_abnormal_muscle_physiology1.20066586
53MP0005666_abnormal_adipose_tissue1.19802688
54MP0006276_abnormal_autonomic_nervous1.12301925
55MP0005365_abnormal_bile_salt1.11350826
56MP0005167_abnormal_blood-brain_barrier1.09560037
57MP0002064_seizures1.05215185
58MP0000759_abnormal_skeletal_muscle1.04505745
59MP0004270_analgesia1.04227354
60MP0001299_abnormal_eye_distance/1.04052344
61MP0001879_abnormal_lymphatic_vessel1.03518352
62MP0000230_abnormal_systemic_arterial1.03045549
63MP0005085_abnormal_gallbladder_physiolo1.02770827
64MP0005375_adipose_tissue_phenotype1.01950654
65MP0000566_synostosis1.01130603
66MP0005551_abnormal_eye_electrophysiolog1.00173437
67MP0001502_abnormal_circadian_rhythm0.96437493
68MP0003868_abnormal_feces_composition0.94621661
69MP0002127_abnormal_cardiovascular_syste0.93751668
70MP0009745_abnormal_behavioral_response0.93164353
71MP0004885_abnormal_endolymph0.92165741
72MP0000750_abnormal_muscle_regeneration0.90808561
73MP0002139_abnormal_hepatobiliary_system0.90325932
74MP0005423_abnormal_somatic_nervous0.89451227
75MP0003879_abnormal_hair_cell0.89143187
76MP0003633_abnormal_nervous_system0.88877052
77MP0003045_fibrosis0.86473140
78MP0003195_calcinosis0.85090622
79MP0005508_abnormal_skeleton_morphology0.84532295
80MP0003632_abnormal_nervous_system0.84032683
81MP0010630_abnormal_cardiac_muscle0.83652353
82MP0005535_abnormal_body_temperature0.83469169
83MP0000003_abnormal_adipose_tissue0.83206335
84MP0002332_abnormal_exercise_endurance0.83188115
85MP0009046_muscle_twitch0.82695768
86MP0003635_abnormal_synaptic_transmissio0.81842834
87MP0002118_abnormal_lipid_homeostasis0.80596953
88MP0002133_abnormal_respiratory_system0.80175557
89MP0005388_respiratory_system_phenotype0.80175557
90MP0005332_abnormal_amino_acid0.79987010
91MP0009384_cardiac_valve_regurgitation0.78805612
92MP0003329_amyloid_beta_deposits0.77112705
93MP0003631_nervous_system_phenotype0.76548407
94MP0008004_abnormal_stomach_pH0.76086535
95MP0004859_abnormal_synaptic_plasticity0.74369125
96MP0000639_abnormal_adrenal_gland0.73839873
97MP0002063_abnormal_learning/memory/cond0.73183580
98MP0003136_yellow_coat_color0.72945956
99MP0002909_abnormal_adrenal_gland0.72886788
100MP0005360_urolithiasis0.72328585

Predicted human phenotypes

RankGene SetZ-score
1Complement deficiency (HP:0004431)5.65601594
2Bundle branch block (HP:0011710)4.42756731
3Abnormality of complement system (HP:0005339)4.29868814
4Muscle fiber splitting (HP:0003555)4.20719572
5Sudden death (HP:0001699)4.14139334
6Type 1 muscle fiber predominance (HP:0003803)4.07049520
7Hyporeflexia of lower limbs (HP:0002600)3.95123773
8Atrial fibrillation (HP:0005110)3.60702127
9Heart block (HP:0012722)3.32650773
10Primary atrial arrhythmia (HP:0001692)3.29730526
11Abnormality of the calf musculature (HP:0001430)3.24528420
12Syncope (HP:0001279)3.21002813
13Aortic aneurysm (HP:0004942)3.14987641
14Abnormal atrioventricular conduction (HP:0005150)3.12727742
15Supraventricular tachycardia (HP:0004755)3.11055847
16Systemic lupus erythematosus (HP:0002725)3.10802091
17Supraventricular arrhythmia (HP:0005115)3.06670803
18Broad metatarsal (HP:0001783)3.04069320
19Lipoatrophy (HP:0100578)2.98458907
20Calf muscle hypertrophy (HP:0008981)2.96962590
21Glomerulonephritis (HP:0000099)2.88262114
22Atrioventricular block (HP:0001678)2.85219814
23Muscle hypertrophy of the lower extremities (HP:0008968)2.83521744
24Asymmetric septal hypertrophy (HP:0001670)2.82913438
25Muscle fiber inclusion bodies (HP:0100299)2.79675991
26Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.75438406
27Pulmonary artery stenosis (HP:0004415)2.74400118
28Prolonged QT interval (HP:0001657)2.70788751
29Protrusio acetabuli (HP:0003179)2.68530942
30Ventricular tachycardia (HP:0004756)2.68150274
31Nemaline bodies (HP:0003798)2.67301883
32Round ear (HP:0100830)2.64786853
33EMG: myopathic abnormalities (HP:0003458)2.64665973
34Difficulty running (HP:0009046)2.61475002
35Limited hip movement (HP:0008800)2.55223317
36Increased variability in muscle fiber diameter (HP:0003557)2.51540329
37Action tremor (HP:0002345)2.48679177
38Exercise-induced myalgia (HP:0003738)2.47555073
39Hyperlipoproteinemia (HP:0010980)2.46435132
40Vascular tortuosity (HP:0004948)2.46189430
41Nephritis (HP:0000123)2.43877662
42Oligomenorrhea (HP:0000876)2.41441307
43Increased connective tissue (HP:0009025)2.39756836
44Ventricular arrhythmia (HP:0004308)2.32637783
45Dilated cardiomyopathy (HP:0001644)2.32202813
46Myotonia (HP:0002486)2.32046691
47Aortic dissection (HP:0002647)2.26592414
48Distal arthrogryposis (HP:0005684)2.24502023
49Decreased circulating renin level (HP:0003351)2.23386966
50Mitral stenosis (HP:0001718)2.20108218
51Neck muscle weakness (HP:0000467)2.15621724
52Hypoplasia of the iris (HP:0007676)2.13839448
53Prolonged partial thromboplastin time (HP:0003645)2.11951223
54Focal motor seizures (HP:0011153)2.09930009
55Ulnar claw (HP:0001178)2.06987139
56Frequent falls (HP:0002359)2.06848802
57Hip contracture (HP:0003273)2.04426362
58Striae distensae (HP:0001065)2.01542345
59Abnormality of skeletal muscle fiber size (HP:0012084)1.99403377
60Keratoconus (HP:0000563)1.99004772
61Increased corneal curvature (HP:0100692)1.99004772
62Joint hemorrhage (HP:0005261)1.98806451
63Abnormal EKG (HP:0003115)1.98549463
64Coronal craniosynostosis (HP:0004440)1.98405817
65Abnormality of monocarboxylic acid metabolism (HP:0010996)1.97227279
66Abnormality of the ischium (HP:0003174)1.96274890
67Scanning speech (HP:0002168)1.95727516
68Subaortic stenosis (HP:0001682)1.95439466
69Abnormality of the left ventricular outflow tract (HP:0011103)1.95439466
70Wrist flexion contracture (HP:0001239)1.93427622
71Ventricular fibrillation (HP:0001663)1.91850183
72Bell-shaped thorax (HP:0001591)1.91500418
73Arterial tortuosity (HP:0005116)1.89255162
74Exercise-induced muscle cramps (HP:0003710)1.87703343
75Abnormality of the foot musculature (HP:0001436)1.87597527
76Skin nodule (HP:0200036)1.86536292
77Myoglobinuria (HP:0002913)1.85892265
78Steppage gait (HP:0003376)1.85856260
79Soft skin (HP:0000977)1.83100012
80Blue irides (HP:0000635)1.83050489
81Hypoalphalipoproteinemia (HP:0003233)1.82032909
82Focal seizures (HP:0007359)1.79491707
83Xanthomatosis (HP:0000991)1.78844692
84Alacrima (HP:0000522)1.78401518
85Hyperventilation (HP:0002883)1.78105289
86Absent phalangeal crease (HP:0006109)1.76501673
87Wide anterior fontanel (HP:0000260)1.76288317
88Bronchomalacia (HP:0002780)1.74507992
89Aplasia involving bones of the upper limbs (HP:0009823)1.74446096
90Aplasia of the phalanges of the hand (HP:0009802)1.74446096
91Aplasia involving bones of the extremities (HP:0009825)1.74446096
92Foot dorsiflexor weakness (HP:0009027)1.74027554
93Spinal rigidity (HP:0003306)1.73133638
94Turricephaly (HP:0000262)1.72954952
95Shallow orbits (HP:0000586)1.72824606
96Left ventricular hypertrophy (HP:0001712)1.71677618
97Muscular dystrophy (HP:0003560)1.71155395
98Epidermoid cyst (HP:0200040)1.70320571
99Right ventricular cardiomyopathy (HP:0011663)1.69454552
100Infantile muscular hypotonia (HP:0008947)1.69262354

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN3.72387707
2MYLK3.05373544
3PINK12.60712139
4MARK12.56087625
5EPHA32.45801318
6TIE12.38474239
7NTRK32.31069257
8FRK2.28135519
9FGFR22.08435412
10PHKG22.07459755
11PHKG12.07459755
12TTN1.84070563
13DDR21.73435265
14DMPK1.70024509
15AKT31.57142230
16PIK3CA1.53123074
17PKN11.50308974
18TGFBR21.48580939
19PAK31.45274766
20MAPK121.43831254
21NTRK21.37161866
22PRKAA21.29581169
23PDK21.29300159
24DAPK21.26142076
25RIPK11.24731122
26NEK91.24265141
27PDGFRA1.23423223
28NLK1.21421592
29UHMK11.20812974
30MAPKAPK31.18817868
31TNIK1.18458608
32STK38L1.18342463
33ADRBK21.18079621
34MAP3K71.15146744
35NTRK11.14826476
36TRPM71.14255824
37PIK3CG1.13014930
38PRKD11.12454840
39PRKCE1.12316689
40SGK2231.10976345
41SGK4941.10976345
42SGK21.10454390
43STK391.08792024
44CAMK2D1.08579626
45CAMK11.08231824
46CAMK2B1.07716929
47MAPK71.04475315
48MAPK131.00592637
49MAPK151.00290253
50CAMK2G0.98916748
51MUSK0.98478103
52EPHB20.98445868
53GRK10.95590348
54PAK60.94593938
55CAMK2A0.92806622
56PRKG10.92349595
57ROCK10.90812985
58LATS10.88519214
59WNK10.88005707
60EPHA40.83309266
61PDGFRB0.79398558
62ADRBK10.78066844
63PTK2B0.77568776
64FER0.76264631
65ROCK20.75467584
66GRK50.74620782
67CDC42BPA0.73518552
68INSRR0.73095583
69MAPKAPK50.72119416
70MAP3K60.72098703
71PRKAA10.71340133
72PRKACG0.68710987
73CASK0.68694248
74PRKACA0.67836688
75MAPK40.66333202
76MAP3K40.64525252
77LATS20.63340911
78MET0.63308026
79RPS6KA30.62952651
80JAK10.61968226
81SGK10.61651455
82OXSR10.61088407
83STK110.60416304
84BMPR1B0.60261200
85PRKCG0.60039484
86MAP2K10.58752176
87CAMK40.58467683
88CDK50.57953505
89RET0.57638304
90PAK20.56605177
91SGK30.55927254
92DAPK30.53846064
93PRKACB0.49054247
94TGFBR10.48878785
95MAPK100.48253805
96MARK20.45607968
97TYRO30.44948496
98MAP2K40.44187623
99FGFR30.44136488
100JAK20.43588854

Predicted pathways (KEGG)

RankGene SetZ-score
1Histidine metabolism_Homo sapiens_hsa003402.63423807
2Complement and coagulation cascades_Homo sapiens_hsa046102.39041591
3Fatty acid degradation_Homo sapiens_hsa000712.12061798
4Primary bile acid biosynthesis_Homo sapiens_hsa001202.08156588
5Dilated cardiomyopathy_Homo sapiens_hsa054142.07881862
6Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.06789429
7Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.93869367
8Tryptophan metabolism_Homo sapiens_hsa003801.87515194
9PPAR signaling pathway_Homo sapiens_hsa033201.86121265
10beta-Alanine metabolism_Homo sapiens_hsa004101.78664960
11Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.76037580
12Retinol metabolism_Homo sapiens_hsa008301.75769398
13Steroid hormone biosynthesis_Homo sapiens_hsa001401.73711856
14Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.73027054
15Bile secretion_Homo sapiens_hsa049761.69280122
16Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.68200052
17Phenylalanine metabolism_Homo sapiens_hsa003601.62149646
18Tyrosine metabolism_Homo sapiens_hsa003501.58225624
19Linoleic acid metabolism_Homo sapiens_hsa005911.51093695
20Butanoate metabolism_Homo sapiens_hsa006501.47755093
21Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.47506978
22Caffeine metabolism_Homo sapiens_hsa002321.47257749
23ECM-receptor interaction_Homo sapiens_hsa045121.47221535
24Ovarian steroidogenesis_Homo sapiens_hsa049131.45671893
25Propanoate metabolism_Homo sapiens_hsa006401.44007676
26Arginine biosynthesis_Homo sapiens_hsa002201.43740100
27* ABC transporters_Homo sapiens_hsa020101.42814308
28Chemical carcinogenesis_Homo sapiens_hsa052041.42647107
29Vascular smooth muscle contraction_Homo sapiens_hsa042701.39089658
30Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.39060799
31Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.35952047
32Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.34244257
33Cardiac muscle contraction_Homo sapiens_hsa042601.31955676
34Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.31278968
35Renin secretion_Homo sapiens_hsa049241.30048896
36Arginine and proline metabolism_Homo sapiens_hsa003301.26532030
37Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.25688417
38Circadian entrainment_Homo sapiens_hsa047131.18758125
39Aldosterone synthesis and secretion_Homo sapiens_hsa049251.16212095
40Circadian rhythm_Homo sapiens_hsa047101.15546802
41Insulin secretion_Homo sapiens_hsa049111.10156014
42Nitrogen metabolism_Homo sapiens_hsa009101.09317889
43Morphine addiction_Homo sapiens_hsa050321.06440679
44Prion diseases_Homo sapiens_hsa050201.04035158
45Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.02531985
46Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.02111060
47GABAergic synapse_Homo sapiens_hsa047270.96826861
48Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.96235659
49Calcium signaling pathway_Homo sapiens_hsa040200.95116260
50cGMP-PKG signaling pathway_Homo sapiens_hsa040220.93175191
51Glutamatergic synapse_Homo sapiens_hsa047240.92526797
52Fatty acid metabolism_Homo sapiens_hsa012120.92277165
53Arachidonic acid metabolism_Homo sapiens_hsa005900.91310974
54Gastric acid secretion_Homo sapiens_hsa049710.89808843
55Mineral absorption_Homo sapiens_hsa049780.89023625
56Cyanoamino acid metabolism_Homo sapiens_hsa004600.88046321
57Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.84675047
58alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.84293858
59Pyruvate metabolism_Homo sapiens_hsa006200.82008359
60Protein digestion and absorption_Homo sapiens_hsa049740.81600442
61Salivary secretion_Homo sapiens_hsa049700.81575377
62Pentose and glucuronate interconversions_Homo sapiens_hsa000400.80994944
63Glycerolipid metabolism_Homo sapiens_hsa005610.80673655
64Amphetamine addiction_Homo sapiens_hsa050310.80516827
65Oxytocin signaling pathway_Homo sapiens_hsa049210.79369218
66Nicotine addiction_Homo sapiens_hsa050330.78626568
67Peroxisome_Homo sapiens_hsa041460.76166004
68cAMP signaling pathway_Homo sapiens_hsa040240.74702723
69Focal adhesion_Homo sapiens_hsa045100.74448987
70Cocaine addiction_Homo sapiens_hsa050300.73976023
71Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.72121360
72Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.71511634
73Serotonergic synapse_Homo sapiens_hsa047260.68852880
74Pancreatic secretion_Homo sapiens_hsa049720.63096814
75Adipocytokine signaling pathway_Homo sapiens_hsa049200.61493401
76Fat digestion and absorption_Homo sapiens_hsa049750.60610626
77Ether lipid metabolism_Homo sapiens_hsa005650.59490961
78Dorso-ventral axis formation_Homo sapiens_hsa043200.59034799
79Vitamin B6 metabolism_Homo sapiens_hsa007500.56290261
80Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.56169048
81Glucagon signaling pathway_Homo sapiens_hsa049220.55487059
82Phototransduction_Homo sapiens_hsa047440.54636483
83AMPK signaling pathway_Homo sapiens_hsa041520.54072125
84Olfactory transduction_Homo sapiens_hsa047400.52930637
85Staphylococcus aureus infection_Homo sapiens_hsa051500.52779080
86Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.52674471
87Insulin resistance_Homo sapiens_hsa049310.52180979
88Taste transduction_Homo sapiens_hsa047420.51077631
89Gap junction_Homo sapiens_hsa045400.50613943
90Dopaminergic synapse_Homo sapiens_hsa047280.50486898
91Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.50231471
92Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.50209052
93Fatty acid biosynthesis_Homo sapiens_hsa000610.50147708
942-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.49525136
95Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.49438829
96Phospholipase D signaling pathway_Homo sapiens_hsa040720.49056375
97Thyroid hormone synthesis_Homo sapiens_hsa049180.46433644
98Starch and sucrose metabolism_Homo sapiens_hsa005000.46360923
99Cholinergic synapse_Homo sapiens_hsa047250.45322370
100Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.45008867

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