AGTR1

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: Angiotensin II is a potent vasopressor hormone and a primary regulator of aldosterone secretion. It is an important effector controlling blood pressure and volume in the cardiovascular system. It acts through at least two types of receptors. This gene encodes the type 1 receptor which is thought to mediate the major cardiovascular effects of angiotensin II. This gene may play a role in the generation of reperfusion arrhythmias following restoration of blood flow to ischemic or infarcted myocardium. It was previously thought that a related gene, denoted as AGTR1B, existed; however, it is now believed that there is only one type 1 receptor gene in humans. Multiple alternatively spliced transcript variants have been reported for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1complement activation, alternative pathway (GO:0006957)7.32190538
2regulation of protein activation cascade (GO:2000257)6.21493156
3negative regulation of fibrinolysis (GO:0051918)6.19671957
4regulation of fibrinolysis (GO:0051917)6.10687636
5ethanol oxidation (GO:0006069)6.00564379
6regulation of complement activation (GO:0030449)5.93488666
7erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)5.72879030
8L-phenylalanine catabolic process (GO:0006559)5.72879030
9protein carboxylation (GO:0018214)5.64467305
10peptidyl-glutamic acid carboxylation (GO:0017187)5.64467305
11erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)5.31797661
12L-phenylalanine metabolic process (GO:0006558)5.31797661
13epoxygenase P450 pathway (GO:0019373)5.25213730
14exogenous drug catabolic process (GO:0042738)5.23300579
15omega-hydroxylase P450 pathway (GO:0097267)5.11847225
16drug catabolic process (GO:0042737)5.11447628
17glyoxylate metabolic process (GO:0046487)5.05460035
18regulation of plasminogen activation (GO:0010755)5.02880050
19ethanol metabolic process (GO:0006067)4.77480724
20fibrinolysis (GO:0042730)4.70519458
21triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.68518295
22blood coagulation, intrinsic pathway (GO:0007597)4.60006039
23urea metabolic process (GO:0019627)4.44037370
24triglyceride homeostasis (GO:0070328)4.12623714
25acylglycerol homeostasis (GO:0055090)4.12623714
26bile acid biosynthetic process (GO:0006699)4.11843649
27nitrogen cycle metabolic process (GO:0071941)4.10471122
28negative regulation of protein activation cascade (GO:2000258)4.07377268
29protein activation cascade (GO:0072376)4.06821205
30bile acid metabolic process (GO:0008206)4.01163058
31opsonization (GO:0008228)4.00848741
32cellular glucuronidation (GO:0052695)3.92383776
33complement activation (GO:0006956)3.90666437
34drug metabolic process (GO:0017144)3.83131479
35regulation of triglyceride catabolic process (GO:0010896)3.82462538
36positive regulation of lipoprotein lipase activity (GO:0051006)3.82433601
37positive regulation of triglyceride lipase activity (GO:0061365)3.82433601
38negative regulation of hemostasis (GO:1900047)3.82057246
39negative regulation of blood coagulation (GO:0030195)3.82057246
40urea cycle (GO:0000050)3.80373107
41phenylpropanoid metabolic process (GO:0009698)3.79391660
42acute-phase response (GO:0006953)3.79006637
43triglyceride catabolic process (GO:0019433)3.78713968
44plasma lipoprotein particle clearance (GO:0034381)3.77731833
45aromatic amino acid family catabolic process (GO:0009074)3.77310953
46neutral lipid catabolic process (GO:0046461)3.70569448
47acylglycerol catabolic process (GO:0046464)3.70569448
48oxidative demethylation (GO:0070989)3.69691364
49complement activation, classical pathway (GO:0006958)3.68006683
50negative regulation of sterol transport (GO:0032372)3.65816659
51negative regulation of cholesterol transport (GO:0032375)3.65816659
52glucuronate metabolic process (GO:0019585)3.62287344
53uronic acid metabolic process (GO:0006063)3.62287344
54polyketide metabolic process (GO:0030638)3.61895200
55doxorubicin metabolic process (GO:0044598)3.61895200
56daunorubicin metabolic process (GO:0044597)3.61895200
57* plasma lipoprotein particle remodeling (GO:0034369)3.60018287
58* protein-lipid complex remodeling (GO:0034368)3.60018287
59* macromolecular complex remodeling (GO:0034367)3.60018287
60positive regulation of blood coagulation (GO:0030194)3.58485062
61positive regulation of hemostasis (GO:1900048)3.58485062
62regulation of lipoprotein metabolic process (GO:0050746)3.54819817
63negative regulation of coagulation (GO:0050819)3.51343022
64serine family amino acid catabolic process (GO:0009071)3.50785225
65negative regulation of wound healing (GO:0061045)3.47000361
66negative regulation of lipase activity (GO:0060192)3.44932913
67negative regulation of complement activation (GO:0045916)3.43315223
68regulation of humoral immune response (GO:0002920)3.39873159
69positive regulation of lipid catabolic process (GO:0050996)3.37103460
70low-density lipoprotein particle clearance (GO:0034383)3.36819560
71cholesterol efflux (GO:0033344)3.34935772
72high-density lipoprotein particle remodeling (GO:0034375)3.33397877
73glucocorticoid biosynthetic process (GO:0006704)3.32602448
74positive regulation of coagulation (GO:0050820)3.25861641
75aminoglycoside antibiotic metabolic process (GO:0030647)3.20446883
76embryonic retina morphogenesis in camera-type eye (GO:0060059)3.20217341
77regulation of apoptotic cell clearance (GO:2000425)3.19004836
78amino-acid betaine metabolic process (GO:0006577)3.14880429
79phospholipid efflux (GO:0033700)3.08847508
80bile acid and bile salt transport (GO:0015721)3.06292037
81reverse cholesterol transport (GO:0043691)3.05960845
82fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.03102737
83acute inflammatory response (GO:0002526)3.02876587
84positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.02653450
85glycine metabolic process (GO:0006544)3.01144056
86intestinal cholesterol absorption (GO:0030299)2.99307523
87regulation of bile acid biosynthetic process (GO:0070857)2.99023197
88response to phenylpropanoid (GO:0080184)2.98695802
89* regulation of cholesterol esterification (GO:0010872)2.97917687
90imidazole-containing compound metabolic process (GO:0052803)2.97906064
91primary alcohol metabolic process (GO:0034308)2.95751968
92positive regulation of wound healing (GO:0090303)2.95461510
93primary alcohol catabolic process (GO:0034310)2.94704343
94positive regulation of fatty acid biosynthetic process (GO:0045723)2.94212175
95response to mercury ion (GO:0046689)2.93799803
96cytolysis (GO:0019835)2.93105417
97tyrosine metabolic process (GO:0006570)2.92198689
98phospholipid homeostasis (GO:0055091)2.89430613
99glutamate metabolic process (GO:0006536)2.84357852
100regulation of sequestering of triglyceride (GO:0010889)2.83225076

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse6.91159628
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.88679548
3RXR_22158963_ChIP-Seq_LIVER_Mouse4.48359440
4LXR_22158963_ChIP-Seq_LIVER_Mouse3.88976898
5TRIM28_21343339_ChIP-Seq_HEK293_Human3.86136666
6PPARA_22158963_ChIP-Seq_LIVER_Mouse3.81491584
7EGR1_23403033_ChIP-Seq_LIVER_Mouse3.67334067
8FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.59739049
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.09964877
10RARG_19884340_ChIP-ChIP_MEFs_Mouse2.55242914
11PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.15103777
12TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.11300593
13CLOCK_20551151_ChIP-Seq_293T_Human2.04811528
14CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.03385923
15ESR1_22446102_ChIP-Seq_UTERUS_Mouse2.01451788
16* FOXA2_19822575_ChIP-Seq_HepG2_Human1.78569514
17CDX2_19796622_ChIP-Seq_MESCs_Mouse1.78016282
18THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.74889879
19EP300_21415370_ChIP-Seq_HL-1_Mouse1.66404094
20CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.58867524
21TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.54580516
22* PIAS1_25552417_ChIP-Seq_VCAP_Human1.54150027
23ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.49989595
24RNF2_18974828_ChIP-Seq_MESCs_Mouse1.43190595
25EZH2_18974828_ChIP-Seq_MESCs_Mouse1.43190595
26BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.42747569
27SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.38597968
28NRF2_20460467_ChIP-Seq_MEFs_Mouse1.37425100
29NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.37425100
30CJUN_26792858_Chip-Seq_BT549_Human1.36240063
31ESR2_21235772_ChIP-Seq_MCF-7_Human1.30254378
32TBX20_22328084_ChIP-Seq_HEART_Mouse1.29841177
33TBX20_22080862_ChIP-Seq_HEART_Mouse1.29841177
34TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.28884767
35ESR1_20079471_ChIP-ChIP_T-47D_Human1.27805592
36* HNF4A_19822575_ChIP-Seq_HepG2_Human1.27353534
37CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.27089232
38CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.27030757
39EED_16625203_ChIP-ChIP_MESCs_Mouse1.25692490
40PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.24707128
41SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.23518400
42SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.22261471
43MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.16974031
44TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.16409733
45NFIB_24661679_ChIP-Seq_LUNG_Mouse1.13209899
46MTF2_20144788_ChIP-Seq_MESCs_Mouse1.12748636
47SALL4_18804426_ChIP-ChIP_XEN_Mouse1.11201803
48STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.06887499
49TP53_18474530_ChIP-ChIP_U2OS_Human1.06516705
50SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.06329445
51RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.06066119
52Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.01823672
53TP63_17297297_ChIP-ChIP_HaCaT_Human1.01423354
54TP53_20018659_ChIP-ChIP_R1E_Mouse1.00171827
55SOX2_20726797_ChIP-Seq_SW620_Human0.98461034
56PPAR_26484153_Chip-Seq_NCI-H1993_Human0.96354387
57ZNF217_24962896_ChIP-Seq_MCF-7_Human0.95898952
58NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.95803109
59ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.93658091
60WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.92724604
61SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.92690971
62JARID2_20075857_ChIP-Seq_MESCs_Mouse0.91817774
63BP1_19119308_ChIP-ChIP_Hs578T_Human0.90800211
64SOX9_24532713_ChIP-Seq_HFSC_Mouse0.88262366
65WT1_19549856_ChIP-ChIP_CCG9911_Human0.87390454
66PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.87262294
67PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.87092996
68HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.86947401
69SMC3_22415368_ChIP-Seq_MEFs_Mouse0.86254108
70SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.85150678
71SMC1_22415368_ChIP-Seq_MEFs_Mouse0.83764058
72SA1_22415368_ChIP-Seq_MEFs_Mouse0.83380812
73ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.82691661
74EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.82677417
75CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.82038926
76GATA2_21666600_ChIP-Seq_HMVEC_Human0.81735362
77SMAD_19615063_ChIP-ChIP_OVARY_Human0.80845607
78* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.80045380
79* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.76107329
80CTNNB1_20460455_ChIP-Seq_HCT116_Human0.75451770
81AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.75001391
82WT1_25993318_ChIP-Seq_PODOCYTE_Human0.74998929
83STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.74976538
84CBP_21632823_ChIP-Seq_H3396_Human0.74446036
85RAD21_21589869_ChIP-Seq_MESCs_Mouse0.73877678
86TCF4_18268006_ChIP-ChIP_LS174T_Human0.72014365
87BCAT_22108803_ChIP-Seq_LS180_Human0.71815717
88RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.71585123
89RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.70757070
90ESR1_21235772_ChIP-Seq_MCF-7_Human0.70545561
91HTT_18923047_ChIP-ChIP_STHdh_Human0.69984318
92PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.69954638
93NR3C1_23031785_ChIP-Seq_PC12_Mouse0.67110887
94DNAJC2_21179169_ChIP-ChIP_NT2_Human0.65504839
95TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.65374443
96SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.65290456
97PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.64961108
98SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.64625796
99CTCF_27219007_Chip-Seq_Bcells_Human0.64269380
100HIF1A_21447827_ChIP-Seq_MCF-7_Human0.63847377

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system6.08887924
2MP0008438_abnormal_cutaneous_collagen4.79391096
3MP0005365_abnormal_bile_salt4.14801459
4MP0005360_urolithiasis3.70877115
5MP0010368_abnormal_lymphatic_system3.59765491
6MP0005085_abnormal_gallbladder_physiolo3.35906865
7MP0005670_abnormal_white_adipose3.27084033
8MP0008875_abnormal_xenobiotic_pharmacok3.07301692
9MP0002138_abnormal_hepatobiliary_system2.86270467
10MP0010329_abnormal_lipoprotein_level2.80951770
11MP0005503_abnormal_tendon_morphology2.62594447
12MP0003868_abnormal_feces_composition2.55864406
13MP0005275_abnormal_skin_tensile2.54960413
14MP0004272_abnormal_basement_membrane2.51716227
15MP0003252_abnormal_bile_duct2.39625057
16MP0003195_calcinosis2.36500364
17MP0005666_abnormal_adipose_tissue2.15112179
18MP0002971_abnormal_brown_adipose2.02984822
19MP0003705_abnormal_hypodermis_morpholog2.01318264
20MP0001958_emphysema1.99328833
21MP0001661_extended_life_span1.97654621
22MP0004130_abnormal_muscle_cell1.91831402
23MP0005375_adipose_tissue_phenotype1.81147199
24MP0002876_abnormal_thyroid_physiology1.81136343
25MP0003191_abnormal_cellular_cholesterol1.71582387
26MP0000751_myopathy1.69354270
27MP0003279_aneurysm1.67478061
28MP0002118_abnormal_lipid_homeostasis1.61081139
29MP0002108_abnormal_muscle_morphology1.59719678
30MP0001666_abnormal_nutrient_absorption1.57613452
31MP0005332_abnormal_amino_acid1.44129968
32MP0000013_abnormal_adipose_tissue1.43894185
33MP0009840_abnormal_foam_cell1.42137694
34MP0000609_abnormal_liver_physiology1.41938409
35MP0000003_abnormal_adipose_tissue1.40382158
36MP0003950_abnormal_plasma_membrane1.34986716
37MP0001879_abnormal_lymphatic_vessel1.34060131
38MP0009115_abnormal_fat_cell1.26842755
39MP0005595_abnormal_vascular_smooth1.26141518
40MP0005334_abnormal_fat_pad1.13557030
41MP0001542_abnormal_bone_strength1.12869661
42MP0005023_abnormal_wound_healing1.11706865
43MP0005164_abnormal_response_to1.11337195
44MP0006138_congestive_heart_failure1.11253049
45MP0003186_abnormal_redox_activity1.09792201
46MP0003959_abnormal_lean_body1.08279504
47MP0009780_abnormal_chondrocyte_physiolo1.07163216
48MP0002295_abnormal_pulmonary_circulatio1.05599445
49MP0009384_cardiac_valve_regurgitation1.04854070
50MP0009697_abnormal_copulation1.01998521
51MP0004185_abnormal_adipocyte_glucose1.00865619
52MP0000767_abnormal_smooth_muscle0.99171686
53MP0004145_abnormal_muscle_electrophysio0.93471486
54MP0004087_abnormal_muscle_fiber0.92467912
55MP0005535_abnormal_body_temperature0.91503804
56MP0004883_abnormal_blood_vessel0.90199530
57MP0003690_abnormal_glial_cell0.89649107
58MP0000639_abnormal_adrenal_gland0.89130194
59MP0003566_abnormal_cell_adhesion0.88878823
60MP0005379_endocrine/exocrine_gland_phen0.87151312
61MP0000759_abnormal_skeletal_muscle0.86454953
62MP0001915_intracranial_hemorrhage0.85788137
63MP0001764_abnormal_homeostasis0.82651831
64MP0002909_abnormal_adrenal_gland0.82493537
65MP0005319_abnormal_enzyme/_coenzyme0.81447566
66MP0008775_abnormal_heart_ventricle0.81051864
67MP0005620_abnormal_muscle_contractility0.79599153
68MP0005647_abnormal_sex_gland0.77600946
69MP0005584_abnormal_enzyme/coenzyme_acti0.76976760
70MP0000249_abnormal_blood_vessel0.76777240
71MP0002128_abnormal_blood_circulation0.75903923
72MP0004019_abnormal_vitamin_homeostasis0.75720977
73MP0002060_abnormal_skin_morphology0.75327730
74MP0002970_abnormal_white_adipose0.73087582
75MP0003011_delayed_dark_adaptation0.72728422
76MP0005448_abnormal_energy_balance0.72698747
77MP0000598_abnormal_liver_morphology0.72556960
78MP0002078_abnormal_glucose_homeostasis0.72469948
79MP0000343_altered_response_to0.71458009
80MP0005508_abnormal_skeleton_morphology0.71097262
81MP0005330_cardiomyopathy0.70983943
82MP0005369_muscle_phenotype0.69365960
83MP0002269_muscular_atrophy0.69048523
84MP0000749_muscle_degeneration0.68400493
85MP0009643_abnormal_urine_homeostasis0.68219836
86MP0005385_cardiovascular_system_phenoty0.67408012
87MP0001544_abnormal_cardiovascular_syste0.67408012
88MP0002896_abnormal_bone_mineralization0.67385334
89MP0005408_hypopigmentation0.61531622
90MP0005376_homeostasis/metabolism_phenot0.61058075
91MP0003941_abnormal_skin_development0.60715766
92MP0004036_abnormal_muscle_relaxation0.60491921
93MP0003091_abnormal_cell_migration0.60182926
94MP0005220_abnormal_exocrine_pancreas0.60146947
95MP0005257_abnormal_intraocular_pressure0.59690719
96MP0004215_abnormal_myocardial_fiber0.59507759
97MP0000230_abnormal_systemic_arterial0.58796355
98MP0005187_abnormal_penis_morphology0.57132095
99MP0002933_joint_inflammation0.56562943
100MP0005623_abnormal_meninges_morphology0.54940169

Predicted human phenotypes

RankGene SetZ-score
1Complement deficiency (HP:0004431)8.36679970
2Deep venous thrombosis (HP:0002625)6.97777399
3Abnormality of complement system (HP:0005339)6.85886524
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.22282963
5Prolonged partial thromboplastin time (HP:0003645)5.75630562
6Abnormality of aromatic amino acid family metabolism (HP:0004338)5.70826254
7Systemic lupus erythematosus (HP:0002725)4.97618117
8Hypobetalipoproteinemia (HP:0003563)4.75150669
9Joint hemorrhage (HP:0005261)4.62032528
10Glomerulonephritis (HP:0000099)4.40365413
11Protrusio acetabuli (HP:0003179)4.35791798
12Premature rupture of membranes (HP:0001788)4.15750623
13Hyperlipoproteinemia (HP:0010980)4.07442797
14Conjugated hyperbilirubinemia (HP:0002908)4.02307585
15Xanthomatosis (HP:0000991)3.97084935
16Mitral stenosis (HP:0001718)3.61210583
17Abnormality of the common coagulation pathway (HP:0010990)3.47715593
18Intrahepatic cholestasis (HP:0001406)3.40215261
19Hypolipoproteinemia (HP:0010981)3.32925824
20Aortic dissection (HP:0002647)3.30232500
21Nephritis (HP:0000123)3.19556185
22Type 1 muscle fiber predominance (HP:0003803)3.05609716
23Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.04883681
24Spontaneous abortion (HP:0005268)2.99462399
25Abnormality of the intrinsic pathway (HP:0010989)2.91669599
26Aortic aneurysm (HP:0004942)2.90235022
27Cardiovascular calcification (HP:0011915)2.85889376
28Hypoalphalipoproteinemia (HP:0003233)2.85464854
29Vascular tortuosity (HP:0004948)2.84014898
30Round ear (HP:0100830)2.82013667
31Soft skin (HP:0000977)2.69769111
32Hypercholesterolemia (HP:0003124)2.67759223
33Hemorrhage of the eye (HP:0011885)2.63039874
34Rickets (HP:0002748)2.62140795
35Recurrent gram-negative bacterial infections (HP:0005420)2.61595739
36Vascular calcification (HP:0004934)2.61402540
37Abnormal delivery (HP:0001787)2.59018176
38Peritonitis (HP:0002586)2.58830939
39Increased variability in muscle fiber diameter (HP:0003557)2.50978693
40Atrioventricular block (HP:0001678)2.46992401
41Wrist flexion contracture (HP:0001239)2.43864114
42Fat malabsorption (HP:0002630)2.43177117
43Osteomalacia (HP:0002749)2.36347076
44Arterial tortuosity (HP:0005116)2.33957158
45Spinal rigidity (HP:0003306)2.31354770
46Arthropathy (HP:0003040)2.30247157
47Increased connective tissue (HP:0009025)2.22783701
48Skin nodule (HP:0200036)2.20490822
49Vertebral compression fractures (HP:0002953)2.20255753
50Myocardial infarction (HP:0001658)2.20125400
51Abnormality of skeletal muscle fiber size (HP:0012084)2.19259200
52Epidermoid cyst (HP:0200040)2.17204188
53Back pain (HP:0003418)2.16142800
54Abnormality of glutamine family amino acid metabolism (HP:0010902)2.14579357
55Mitral valve prolapse (HP:0001634)2.13459500
56Overgrowth (HP:0001548)2.06573511
57Cerebral aneurysm (HP:0004944)2.05428497
58Polycythemia (HP:0001901)2.04891863
59Hypertriglyceridemia (HP:0002155)2.04697076
60Gingival bleeding (HP:0000225)2.04366161
61Neonatal hypoglycemia (HP:0001998)2.02851479
62Blue sclerae (HP:0000592)2.00088502
63Bladder diverticulum (HP:0000015)1.98661669
64Infantile muscular hypotonia (HP:0008947)1.97941493
65Steatorrhea (HP:0002570)1.94515903
66Abnormality of pyrimidine metabolism (HP:0004353)1.92884847
67Fragile skin (HP:0001030)1.92508510
68Hyperphosphaturia (HP:0003109)1.91162374
69Abnormality of the Achilles tendon (HP:0005109)1.91105850
70Dilatation of the ascending aorta (HP:0005111)1.89378657
71Ectopia lentis (HP:0001083)1.88785773
72Oligomenorrhea (HP:0000876)1.88242204
73Wormian bones (HP:0002645)1.83760074
74Ankle contracture (HP:0006466)1.83529939
75Joint stiffness (HP:0001387)1.80616557
76Acanthosis nigricans (HP:0000956)1.80547347
77Broad metatarsal (HP:0001783)1.80466373
78Hypophosphatemic rickets (HP:0004912)1.79218393
79Follicular hyperkeratosis (HP:0007502)1.78630057
80Asymmetric septal hypertrophy (HP:0001670)1.77391340
81Glycosuria (HP:0003076)1.76215892
82Abnormality of urine glucose concentration (HP:0011016)1.76215892
83Biconcave vertebral bodies (HP:0004586)1.75405645
84Aneurysm (HP:0002617)1.75014642
85Atrophic scars (HP:0001075)1.72256207
86Venous insufficiency (HP:0005293)1.71288183
87Abnormal atrioventricular conduction (HP:0005150)1.70935613
88Hyperextensible skin (HP:0000974)1.70337879
89Hyperammonemia (HP:0001987)1.69217119
90Delayed CNS myelination (HP:0002188)1.66322157
91Heart block (HP:0012722)1.66282032
92Thrombophlebitis (HP:0004418)1.65966415
93Menorrhagia (HP:0000132)1.65955002
94Amyloidosis (HP:0011034)1.65512321
95Nemaline bodies (HP:0003798)1.65220127
96Purpura (HP:0000979)1.64785902
97Muscle fiber splitting (HP:0003555)1.62551853
98Venous abnormality (HP:0002624)1.62139697
99Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.61786827
100Muscle fiber inclusion bodies (HP:0100299)1.60849892

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K63.98587449
2PIK3CG3.77623051
3DDR22.90304487
4ERN12.86567235
5RIPK12.84488336
6PDGFRA2.83338646
7MYLK2.79933819
8TRIB32.61800405
9TGFBR22.46145247
10FGFR42.25409066
11TRPM72.17578572
12EEF2K2.01398233
13TIE11.99771537
14NEK91.98596264
15SIK11.89228837
16TTN1.85593734
17OBSCN1.83013892
18AKT31.76899004
19MAP2K41.71736495
20PRKAA21.61430876
21MAP2K71.58381002
22LATS11.57843215
23LATS21.54471678
24PIK3CA1.45103672
25MAPKAPK31.36396480
26MAP3K41.34839206
27ICK1.28798517
28EPHB21.27884992
29MOS1.20903126
30EPHA31.19524858
31TESK11.18494490
32PTK21.17733683
33RET1.11016790
34PDGFRB1.10323630
35DAPK21.08942586
36MAPK71.07079833
37ABL21.05708039
38MUSK0.97340936
39PAK20.96203616
40CAMKK20.90363377
41PRKACG0.89456651
42DAPK30.89050005
43MAPK120.86807775
44STK160.85542881
45PDPK10.85392324
46CDC42BPA0.83826318
47FGFR30.80541908
48ERBB40.79262099
49MAPK110.75582446
50MAPK40.74681910
51DMPK0.74395226
52MAP3K50.74339647
53RPS6KA20.74165871
54EPHB10.73087952
55PINK10.70643767
56MAP3K70.70096862
57IRAK30.69924932
58TYK20.69784797
59NLK0.69052268
60MTOR0.67886192
61CAMK1D0.67765338
62LIMK10.66755348
63NTRK10.66565327
64PRKG10.66278304
65PRKAA10.66148143
66MET0.65908408
67CAMK1G0.65463465
68MAP2K10.64892254
69GSK3A0.59573216
70STK30.59489688
71KIT0.58399558
72JAK10.56113201
73MAP3K30.54106489
74ILK0.53434652
75PAK30.53035975
76CAMK10.51345423
77CAMK2D0.51315009
78KSR20.50371774
79PKN20.50161194
80ROCK10.47094924
81PRPF4B0.47041041
82GRK50.46003419
83PHKG20.44495809
84PHKG10.44495809
85PDK10.43986494
86MAPKAPK50.43976434
87CDK60.42714372
88PRKCE0.42296271
89IGF1R0.42159446
90WNK10.40368116
91PRKACA0.39992191
92RPS6KA30.35583955
93TBK10.34544752
94PRKD20.34113206
95CAMK2G0.33322460
96PRKD10.33137075
97FER0.32694580
98MARK20.32559239
99MAP2K30.32471739
100NTRK30.32138248

Predicted pathways (KEGG)

RankGene SetZ-score
1Complement and coagulation cascades_Homo sapiens_hsa046104.13524829
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.70454182
3Primary bile acid biosynthesis_Homo sapiens_hsa001203.47045233
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.04547157
5Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.99484340
6Retinol metabolism_Homo sapiens_hsa008302.87602116
7Fatty acid degradation_Homo sapiens_hsa000712.78569636
8Caffeine metabolism_Homo sapiens_hsa002322.74183789
9Phenylalanine metabolism_Homo sapiens_hsa003602.73613576
10Steroid hormone biosynthesis_Homo sapiens_hsa001402.47164184
11Chemical carcinogenesis_Homo sapiens_hsa052042.45340338
12Pentose and glucuronate interconversions_Homo sapiens_hsa000402.41441174
13Tyrosine metabolism_Homo sapiens_hsa003502.39876687
14Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.38486443
15Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.31474484
16Histidine metabolism_Homo sapiens_hsa003402.21005420
17PPAR signaling pathway_Homo sapiens_hsa033202.11624601
18Arginine biosynthesis_Homo sapiens_hsa002202.10410520
19Tryptophan metabolism_Homo sapiens_hsa003802.06040913
20Drug metabolism - other enzymes_Homo sapiens_hsa009831.78557096
21Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.71999877
22Cyanoamino acid metabolism_Homo sapiens_hsa004601.66597657
23Butanoate metabolism_Homo sapiens_hsa006501.65333766
24Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.60736555
25Bile secretion_Homo sapiens_hsa049761.59917302
26Prion diseases_Homo sapiens_hsa050201.56228995
27Starch and sucrose metabolism_Homo sapiens_hsa005001.51570307
28beta-Alanine metabolism_Homo sapiens_hsa004101.42249599
29Staphylococcus aureus infection_Homo sapiens_hsa051501.29600243
30Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.24187628
31Vitamin B6 metabolism_Homo sapiens_hsa007501.18993682
32Pyruvate metabolism_Homo sapiens_hsa006201.14995227
33Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.14323514
34Linoleic acid metabolism_Homo sapiens_hsa005911.12900686
35Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.12207299
36Sulfur metabolism_Homo sapiens_hsa009201.10134001
37Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.06442540
38Peroxisome_Homo sapiens_hsa041461.05784104
39Propanoate metabolism_Homo sapiens_hsa006401.05714426
402-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.99927059
41Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.99428786
42Fatty acid metabolism_Homo sapiens_hsa012120.97763760
43Arginine and proline metabolism_Homo sapiens_hsa003300.93561552
44Fat digestion and absorption_Homo sapiens_hsa049750.93110957
45ABC transporters_Homo sapiens_hsa020100.88915622
46Adipocytokine signaling pathway_Homo sapiens_hsa049200.87301305
47Arachidonic acid metabolism_Homo sapiens_hsa005900.84491655
48ECM-receptor interaction_Homo sapiens_hsa045120.83258281
49Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.82612445
50Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.77914987
51Carbon metabolism_Homo sapiens_hsa012000.76685910
52Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.73576231
53Glycerolipid metabolism_Homo sapiens_hsa005610.71717108
54Biosynthesis of amino acids_Homo sapiens_hsa012300.71021350
55Insulin resistance_Homo sapiens_hsa049310.70385378
56Cysteine and methionine metabolism_Homo sapiens_hsa002700.67348977
57Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.67119324
58Pertussis_Homo sapiens_hsa051330.63260514
59Sulfur relay system_Homo sapiens_hsa041220.60515150
60AMPK signaling pathway_Homo sapiens_hsa041520.59499171
61Glycosaminoglycan degradation_Homo sapiens_hsa005310.55684552
62Lysine degradation_Homo sapiens_hsa003100.54583241
63Amoebiasis_Homo sapiens_hsa051460.51335731
64Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.46260993
65Focal adhesion_Homo sapiens_hsa045100.44758081
66Ovarian steroidogenesis_Homo sapiens_hsa049130.43060008
67Maturity onset diabetes of the young_Homo sapiens_hsa049500.40084253
68Glucagon signaling pathway_Homo sapiens_hsa049220.38448840
69Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.37932462
70Fatty acid biosynthesis_Homo sapiens_hsa000610.37560779
71Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.35524914
72Dilated cardiomyopathy_Homo sapiens_hsa054140.34629438
73Insulin signaling pathway_Homo sapiens_hsa049100.33716415
74* Vascular smooth muscle contraction_Homo sapiens_hsa042700.32908436
75Folate biosynthesis_Homo sapiens_hsa007900.29354502
76Fatty acid elongation_Homo sapiens_hsa000620.27784893
77Other glycan degradation_Homo sapiens_hsa005110.27393713
78Protein digestion and absorption_Homo sapiens_hsa049740.24775867
79Metabolic pathways_Homo sapiens_hsa011000.24136851
80Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.23841553
81Malaria_Homo sapiens_hsa051440.18288446
82Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.17137446
83One carbon pool by folate_Homo sapiens_hsa006700.16590664
84Pentose phosphate pathway_Homo sapiens_hsa000300.16521402
85* Aldosterone synthesis and secretion_Homo sapiens_hsa049250.16232986
86Type II diabetes mellitus_Homo sapiens_hsa049300.15427057
87Fructose and mannose metabolism_Homo sapiens_hsa000510.14831611
88Circadian rhythm_Homo sapiens_hsa047100.14178693
89Serotonergic synapse_Homo sapiens_hsa047260.13741445
90Longevity regulating pathway - mammal_Homo sapiens_hsa042110.13535590
91* AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.12626804
92Mineral absorption_Homo sapiens_hsa049780.11418856
93Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.10421255
94PI3K-Akt signaling pathway_Homo sapiens_hsa041510.05884084
95* cGMP-PKG signaling pathway_Homo sapiens_hsa040220.04705784
96Glutathione metabolism_Homo sapiens_hsa004800.04299037
97Proteoglycans in cancer_Homo sapiens_hsa052050.03870757
98* Renin-angiotensin system_Homo sapiens_hsa046140.02891687
99TGF-beta signaling pathway_Homo sapiens_hsa043500.02885226
100FoxO signaling pathway_Homo sapiens_hsa040680.01643763

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