ABCB1

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 intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance. The protein encoded by this gene is an ATP-dependent drug efflux pump for xenobiotic compounds with broad substrate specificity. It is responsible for decreased drug accumulation in multidrug-resistant cells and often mediates the development of resistance to anticancer drugs. This protein also functions as a transporter in the blood-brain barrier. Mutations in this gene are associated with colchicine resistance and Inflammatory bowel disease 13. Alternative splicing and the use of alternative promoters results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1angiotensin maturation (GO:0002003)7.37027583
2regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)7.02250790
3epoxygenase P450 pathway (GO:0019373)6.66767884
4regulation of bile acid biosynthetic process (GO:0070857)5.77090211
5intestinal absorption (GO:0050892)5.53854026
6cellular glucuronidation (GO:0052695)5.46080047
7fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)5.25783447
8lipoprotein transport (GO:0042953)5.23878190
9positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)5.18947070
10glucuronate metabolic process (GO:0019585)5.16094257
11uronic acid metabolic process (GO:0006063)5.16094257
12very-low-density lipoprotein particle assembly (GO:0034379)5.07446574
13hormone catabolic process (GO:0042447)5.02564576
14fat-soluble vitamin biosynthetic process (GO:0042362)4.93805886
15drug metabolic process (GO:0017144)4.90569720
16NADH metabolic process (GO:0006734)4.71964833
17urea metabolic process (GO:0019627)4.65384168
18bile acid and bile salt transport (GO:0015721)4.65245667
19* drug transmembrane transport (GO:0006855)4.58515291
20regulation of systemic arterial blood pressure by hormone (GO:0001990)4.55381167
21regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)4.55381167
22endocrine process (GO:0050886)4.55381167
23regulation of cholesterol esterification (GO:0010872)4.53641200
24exogenous drug catabolic process (GO:0042738)4.48925983
25urea cycle (GO:0000050)4.48215768
26regulation of guanylate cyclase activity (GO:0031282)4.47287081
27drug catabolic process (GO:0042737)4.46937973
28regulation of triglyceride catabolic process (GO:0010896)4.44251717
29diacylglycerol metabolic process (GO:0046339)4.34185965
30plasma lipoprotein particle assembly (GO:0034377)4.30681995
31nitrogen cycle metabolic process (GO:0071941)4.26459918
32regulation of cell communication by electrical coupling (GO:0010649)4.17618500
33glucocorticoid biosynthetic process (GO:0006704)4.13883087
34carnitine metabolic process (GO:0009437)4.02500679
35* drug transport (GO:0015893)3.99974241
36protein-lipid complex assembly (GO:0065005)3.94842048
37regulation of systemic arterial blood pressure (GO:0003073)3.93074918
38fructose metabolic process (GO:0006000)3.91995224
39bile acid metabolic process (GO:0008206)3.89490331
40flavonoid metabolic process (GO:0009812)3.86165236
41protein hydroxylation (GO:0018126)3.83273550
42protein-lipid complex remodeling (GO:0034368)3.81320603
43macromolecular complex remodeling (GO:0034367)3.81320603
44plasma lipoprotein particle remodeling (GO:0034369)3.81320603
45omega-hydroxylase P450 pathway (GO:0097267)3.75864547
46lipoprotein metabolic process (GO:0042157)3.71659604
47low-density lipoprotein particle remodeling (GO:0034374)3.68538491
48phospholipid efflux (GO:0033700)3.66181386
49regulation of cholesterol homeostasis (GO:2000188)3.65953295
50positive regulation of lipid catabolic process (GO:0050996)3.65857743
51high-density lipoprotein particle remodeling (GO:0034375)3.58223891
52cholesterol efflux (GO:0033344)3.56991418
53amino-acid betaine metabolic process (GO:0006577)3.56778608
54triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.52593922
55heme transport (GO:0015886)3.51298634
56detection of calcium ion (GO:0005513)3.47253608
57plasma lipoprotein particle organization (GO:0071827)3.46697166
58positive regulation of triglyceride lipase activity (GO:0061365)3.45203550
59positive regulation of lipoprotein lipase activity (GO:0051006)3.45203550
60intestinal cholesterol absorption (GO:0030299)3.44636320
61alkaloid metabolic process (GO:0009820)3.43839818
62peptide hormone processing (GO:0016486)3.42082860
63positive regulation of guanylate cyclase activity (GO:0031284)3.37021974
64urate metabolic process (GO:0046415)3.36030915
65regulation of protein activation cascade (GO:2000257)3.35473851
66macroautophagy (GO:0016236)3.33001504
67protein-lipid complex subunit organization (GO:0071825)3.32238094
68reverse cholesterol transport (GO:0043691)3.31478551
69ethanol oxidation (GO:0006069)3.30994922
70regulation of complement activation (GO:0030449)3.25184262
71glutamine family amino acid biosynthetic process (GO:0009084)3.25120614
72glucocorticoid metabolic process (GO:0008211)3.23732264
73phenylpropanoid metabolic process (GO:0009698)3.22009596
74positive regulation of fatty acid biosynthetic process (GO:0045723)3.18124797
75cholesterol homeostasis (GO:0042632)3.16829458
76cellular response to nitric oxide (GO:0071732)3.16316175
77negative regulation of cholesterol transport (GO:0032375)3.15605803
78negative regulation of sterol transport (GO:0032372)3.15605803
79sterol homeostasis (GO:0055092)3.12208675
80actin filament depolymerization (GO:0030042)3.11305526
81glycolipid catabolic process (GO:0019377)3.07374266
82fat-soluble vitamin metabolic process (GO:0006775)3.06328283
83regulation of cellular extravasation (GO:0002691)3.02109632
84glycosphingolipid catabolic process (GO:0046479)3.02004036
85vitamin transport (GO:0051180)3.02000456
86peptide catabolic process (GO:0043171)2.99800055
87regulation of cholesterol metabolic process (GO:0090181)2.99513670
88drinking behavior (GO:0042756)2.99242346
89complement activation, alternative pathway (GO:0006957)2.97036477
90renal system process involved in regulation of systemic arterial blood pressure (GO:0003071)2.94297283
91fat-soluble vitamin catabolic process (GO:0042363)2.94200992
92vitamin catabolic process (GO:0009111)2.94200992
93cellular response to prostaglandin stimulus (GO:0071379)2.94022336
94digestion (GO:0007586)2.90638577
95arginine metabolic process (GO:0006525)2.88148726
96glycosylceramide metabolic process (GO:0006677)2.87401698
97response to nitric oxide (GO:0071731)2.87335084
98positive regulation of steroid metabolic process (GO:0045940)2.87277801
99vitamin transmembrane transport (GO:0035461)2.85308494
100embryonic process involved in female pregnancy (GO:0060136)2.84985582

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse5.75770741
2EGR1_19374776_ChIP-ChIP_THP-1_Human4.68843048
3RXR_22158963_ChIP-Seq_LIVER_Mouse3.59131198
4CDX2_20551321_ChIP-Seq_CACO-2_Human3.49664775
5LXR_22158963_ChIP-Seq_LIVER_Mouse3.48184793
6EGR1_23403033_ChIP-Seq_LIVER_Mouse3.39167817
7IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.30932416
8PPARA_22158963_ChIP-Seq_LIVER_Mouse3.12768225
9ZNF263_19887448_ChIP-Seq_K562_Human2.90707170
10FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.79251512
11GATA4_25053715_ChIP-Seq_YYC3_Human2.73642902
12FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.65775662
13SOX2_27498859_Chip-Seq_STOMACH_Mouse2.43187799
14CDX2_19796622_ChIP-Seq_MESCs_Mouse2.29274013
15HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.25836051
16GATA6_25053715_ChIP-Seq_YYC3_Human2.20243031
17IRF8_22096565_ChIP-ChIP_GC-B_Human2.16071978
18NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.16034567
19* FOXA2_19822575_ChIP-Seq_HepG2_Human2.12458121
20FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.03524302
21PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.01247342
22BP1_19119308_ChIP-ChIP_Hs578T_Human1.95115821
23* HNF4A_19822575_ChIP-Seq_HepG2_Human1.90075710
24AR_21909140_ChIP-Seq_LNCAP_Human1.89013750
25* SOX2_20726797_ChIP-Seq_SW620_Human1.87181536
26FOXO3_23340844_ChIP-Seq_DLD1_Human1.81282557
27* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.79516582
28STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.73144316
29AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.61914016
30PPAR_26484153_Chip-Seq_NCI-H1993_Human1.61778234
31* ER_23166858_ChIP-Seq_MCF-7_Human1.59548144
32CLOCK_20551151_ChIP-Seq_293T_Human1.58937586
33Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.56203808
34* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.49541408
35STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.43603109
36PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.43234314
37SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.40792723
38FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.38926101
39GATA2_21666600_ChIP-Seq_HMVEC_Human1.34933692
40SALL4_18804426_ChIP-ChIP_XEN_Mouse1.30424596
41* FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.30277898
42FOXA1_25552417_ChIP-Seq_VCAP_Human1.29587104
43MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.27092776
44TCF4_18268006_ChIP-ChIP_LS174T_Human1.26870957
45* PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.25943858
46GATA2_19941826_ChIP-Seq_K562_Human1.24916200
47RUNX_20019798_ChIP-Seq_JUKART_Human1.24710660
48ESR1_21235772_ChIP-Seq_MCF-7_Human1.24273883
49NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.22370119
50SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.19356518
51EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.16833516
52* AUTS2_25519132_ChIP-Seq_293T-REX_Human1.16431077
53TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.16185429
54CDX2_22108803_ChIP-Seq_LS180_Human1.12911533
55CTNNB1_20460455_ChIP-Seq_HCT116_Human1.12670253
56GATA1_22025678_ChIP-Seq_K562_Human1.12661637
57ETS1_21867929_ChIP-Seq_TH2_Mouse1.11903464
58FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.08722225
59ESR1_15608294_ChIP-ChIP_MCF-7_Human1.05098230
60ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.03543601
61KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.03285600
62CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.02164359
63KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.99771268
64ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.98335260
65NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.97141427
66GATA3_27048872_Chip-Seq_THYMUS_Human0.95082281
67PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.91615171
68ZNF217_24962896_ChIP-Seq_MCF-7_Human0.91562032
69SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.90670989
70SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.90670989
71CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.90610718
72TET1_21451524_ChIP-Seq_MESCs_Mouse0.90407309
73ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.89567396
74LXR_22292898_ChIP-Seq_THP-1_Human0.89064542
75IRF8_21731497_ChIP-ChIP_J774_Mouse0.88783377
76GATA2_22383799_ChIP-Seq_G1ME_Mouse0.88066765
77VDR_24787735_ChIP-Seq_THP-1_Human0.87821599
78EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.87473928
79TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.86641978
80ESR1_20079471_ChIP-ChIP_T-47D_Human0.86405960
81FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.84973490
82NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.82042783
83RUNX1_22412390_ChIP-Seq_EML_Mouse0.81257591
84SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.80110518
85GATA1_19941826_ChIP-Seq_K562_Human0.79761542
86PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.78512764
87TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.77088160
88SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.77008553
89TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.75525388
90GATA1_19941827_ChIP-Seq_MEL_Mouse0.74798465
91* BCOR_27268052_Chip-Seq_Bcells_Human0.73694416
92SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.72654337
93* P300_27268052_Chip-Seq_Bcells_Human0.72254153
94CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.72167878
95KLF5_25053715_ChIP-Seq_YYC3_Human0.71667468
96CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.71256636
97KLF5_20875108_ChIP-Seq_MESCs_Mouse0.71054762
98JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.70835592
99STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.70571710
100JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.69185227

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis6.59234666
2MP0002139_abnormal_hepatobiliary_system6.40855544
3MP0005085_abnormal_gallbladder_physiolo4.86154678
4MP0002138_abnormal_hepatobiliary_system4.43976000
5MP0001666_abnormal_nutrient_absorption4.03386051
6MP0005365_abnormal_bile_salt3.87134726
7MP0003868_abnormal_feces_composition3.56059981
8MP0000516_abnormal_urinary_system3.45144882
9MP0005367_renal/urinary_system_phenotyp3.45144882
10MP0003183_abnormal_peptide_metabolism3.11686138
11MP0003252_abnormal_bile_duct3.09852376
12MP0010307_abnormal_tumor_latency3.08579536
13MP0009840_abnormal_foam_cell2.95419275
14MP0004019_abnormal_vitamin_homeostasis2.70900500
15MP0000538_abnormal_urinary_bladder2.61406355
16MP0005409_darkened_coat_color2.28306173
17MP0010329_abnormal_lipoprotein_level2.11903635
18MP0004147_increased_porphyrin_level2.03717842
19MP0008875_abnormal_xenobiotic_pharmacok2.02694492
20MP0004264_abnormal_extraembryonic_tissu1.95010967
21MP0005332_abnormal_amino_acid1.77100370
22MP0002009_preneoplasia1.68320820
23MP0001188_hyperpigmentation1.67255503
24MP0000858_altered_metastatic_potential1.59852827
25MP0010352_gastrointestinal_tract_polyps1.56308278
26MP0010234_abnormal_vibrissa_follicle1.48633778
27MP0002876_abnormal_thyroid_physiology1.46853857
28MP0010155_abnormal_intestine_physiology1.46637503
29MP0003866_abnormal_defecation1.41194946
30MP0009379_abnormal_foot_pigmentation1.41148621
31MP0002877_abnormal_melanocyte_morpholog1.39965327
32MP0009643_abnormal_urine_homeostasis1.37408936
33MP0002166_altered_tumor_susceptibility1.36233463
34MP0001765_abnormal_ion_homeostasis1.31434709
35MP0000609_abnormal_liver_physiology1.30516983
36MP0004484_altered_response_of1.28023947
37MP0001664_abnormal_digestion1.26391697
38MP0002118_abnormal_lipid_homeostasis1.25168004
39MP0003806_abnormal_nucleotide_metabolis1.16018059
40MP0009697_abnormal_copulation1.13651579
41MP0003879_abnormal_hair_cell1.08806775
42MP0003195_calcinosis1.06170401
43MP0000477_abnormal_intestine_morphology1.01940150
44MP0000013_abnormal_adipose_tissue1.01490944
45MP0005636_abnormal_mineral_homeostasis1.00487177
46MP0005670_abnormal_white_adipose0.97929838
47MP0003300_gastrointestinal_ulcer0.95053472
48MP0001764_abnormal_homeostasis0.94799999
49MP0004043_abnormal_pH_regulation0.91430330
50MP0002006_tumorigenesis0.87228940
51MP0003191_abnormal_cellular_cholesterol0.83968119
52MP0005319_abnormal_enzyme/_coenzyme0.81514263
53MP0002971_abnormal_brown_adipose0.81380464
54MP0002909_abnormal_adrenal_gland0.80982377
55MP0001873_stomach_inflammation0.80953800
56MP0005451_abnormal_body_composition0.80951089
57MP0002136_abnormal_kidney_physiology0.78768567
58MP0010678_abnormal_skin_adnexa0.78719989
59MP0005584_abnormal_enzyme/coenzyme_acti0.78265244
60MP0005166_decreased_susceptibility_to0.76983379
61MP0000490_abnormal_crypts_of0.76407132
62MP0000465_gastrointestinal_hemorrhage0.72604696
63MP0003329_amyloid_beta_deposits0.70820666
64MP0003283_abnormal_digestive_organ0.67571838
65MP0008469_abnormal_protein_level0.67486713
66MP0000604_amyloidosis0.66553304
67MP0003763_abnormal_thymus_physiology0.66323581
68MP0000383_abnormal_hair_follicle0.66016681
69MP0001348_abnormal_lacrimal_gland0.65912037
70MP0005448_abnormal_energy_balance0.65839779
71MP0005464_abnormal_platelet_physiology0.65455027
72MP0009642_abnormal_blood_homeostasis0.65451339
73MP0000462_abnormal_digestive_system0.64764795
74MP0003656_abnormal_erythrocyte_physiolo0.64371181
75MP0004215_abnormal_myocardial_fiber0.61786933
76MP0005666_abnormal_adipose_tissue0.61208229
77MP0004782_abnormal_surfactant_physiolog0.60901959
78MP0001756_abnormal_urination0.59510663
79MP0001501_abnormal_sleep_pattern0.58337686
80MP0001661_extended_life_span0.58216493
81MP0001845_abnormal_inflammatory_respons0.57583614
82MP0003950_abnormal_plasma_membrane0.57407002
83MP0002822_catalepsy0.57185469
84MP0000598_abnormal_liver_morphology0.53399817
85MP0000249_abnormal_blood_vessel0.52922821
86MP0005535_abnormal_body_temperature0.52694608
87MP0001835_abnormal_antigen_presentation0.51878931
88MP0002078_abnormal_glucose_homeostasis0.50100509
89MP0009785_altered_susceptibility_to0.49574707
90MP0003953_abnormal_hormone_level0.49418464
91MP0005671_abnormal_response_to0.46740143
92MP0004947_skin_inflammation0.46102861
93MP0000230_abnormal_systemic_arterial0.44254199
94MP0005334_abnormal_fat_pad0.43943107
95MP0003724_increased_susceptibility_to0.43458660
96MP0003436_decreased_susceptibility_to0.42169022
97MP0004858_abnormal_nervous_system0.42085199
98MP0002396_abnormal_hematopoietic_system0.40993803
99MP0009333_abnormal_splenocyte_physiolog0.40649683
100MP0001191_abnormal_skin_condition0.39895011

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of glutamine family amino acid metabolism (HP:0010902)7.98355305
2Hypobetalipoproteinemia (HP:0003563)6.68188653
3Abnormality of proline metabolism (HP:0010907)6.03676565
4Hydroxyprolinuria (HP:0003080)6.03676565
5Abnormality of monocarboxylic acid metabolism (HP:0010996)5.61080328
6Facial shape deformation (HP:0011334)4.80565875
7Potter facies (HP:0002009)4.80565875
8Fat malabsorption (HP:0002630)4.40953662
9Acanthocytosis (HP:0001927)4.27394691
10Xanthomatosis (HP:0000991)4.17393828
11Complement deficiency (HP:0004431)4.02939115
12Malnutrition (HP:0004395)3.93877269
13Abnormality of complement system (HP:0005339)3.80704710
14Chronic diarrhea (HP:0002028)3.71132441
15Widely patent fontanelles and sutures (HP:0004492)3.68974298
16Systemic lupus erythematosus (HP:0002725)3.63954168
17Deep venous thrombosis (HP:0002625)3.57646110
18Intrahepatic cholestasis (HP:0001406)3.55567331
19Hypolipoproteinemia (HP:0010981)3.39873655
20Abnormality of vitamin metabolism (HP:0100508)3.39218694
21Abnormality of vitamin B metabolism (HP:0004340)3.18055006
22Abnormality of the vitamin B12 metabolism (HP:0004341)3.17629269
23Decreased circulating renin level (HP:0003351)3.12872359
24Ileus (HP:0002595)3.05513508
25Glomerulonephritis (HP:0000099)2.95911586
26Glycosuria (HP:0003076)2.94698134
27Abnormality of urine glucose concentration (HP:0011016)2.94698134
28Pigmentary retinal degeneration (HP:0001146)2.92319378
29Abnormality of aromatic amino acid family metabolism (HP:0004338)2.91369528
30Wide cranial sutures (HP:0010537)2.91189128
31Abnormality of the common coagulation pathway (HP:0010990)2.88433396
32Steatorrhea (HP:0002570)2.86939810
33Hemorrhage of the eye (HP:0011885)2.82104095
34Confusion (HP:0001289)2.80857527
35Metabolic alkalosis (HP:0200114)2.80677575
36Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.75864440
37Alkalosis (HP:0001948)2.73620359
38Prolonged partial thromboplastin time (HP:0003645)2.69554974
39Epidermoid cyst (HP:0200040)2.59768815
40Hypophosphatemia (HP:0002148)2.55136494
41Conjugated hyperbilirubinemia (HP:0002908)2.54808684
42Hyperammonemia (HP:0001987)2.53782523
43Hyperphosphaturia (HP:0003109)2.50033264
44Nephrolithiasis (HP:0000787)2.48155134
45Hypophosphatemic rickets (HP:0004912)2.47244472
46Hyperglycinuria (HP:0003108)2.42255187
47Abnormality of small intestinal villus morphology (HP:0011472)2.41467719
48Villous atrophy (HP:0011473)2.41467719
49Nephritis (HP:0000123)2.38834056
50Rickets (HP:0002748)2.37934197
51Abnormal urine phosphate concentration (HP:0012599)2.37533199
52Vascular calcification (HP:0004934)2.37150560
53Elevated alkaline phosphatase (HP:0003155)2.34824045
54Abnormal enzyme/coenzyme activity (HP:0012379)2.33690617
55Abnormality of alkaline phosphatase activity (HP:0004379)2.32431566
56Hypotension (HP:0002615)2.30126110
57Abnormality of renin-angiotensin system (HP:0000847)2.28023579
58Proximal tubulopathy (HP:0000114)2.26523769
59Focal segmental glomerulosclerosis (HP:0000097)2.22805900
60Abnormality of glycine metabolism (HP:0010895)2.20225476
61Abnormality of serine family amino acid metabolism (HP:0010894)2.20225476
62Abnormality of the intrinsic pathway (HP:0010989)2.20079262
63Hyperactive renin-angiotensin system (HP:0000841)2.19401456
64Joint hemorrhage (HP:0005261)2.14758207
65Gout (HP:0001997)2.14025899
66Abnormality of pyrimidine metabolism (HP:0004353)2.11438435
67Amyloidosis (HP:0011034)2.10898289
68Abnormal gallbladder physiology (HP:0012438)2.10181375
69Cholecystitis (HP:0001082)2.10181375
70Mitral stenosis (HP:0001718)2.08280733
71Wide nose (HP:0000445)2.06657825
72Pancreatitis (HP:0001733)2.05464732
73Poikilocytosis (HP:0004447)2.05267472
74Joint swelling (HP:0001386)2.03388655
75Hyperlipoproteinemia (HP:0010980)2.01812698
76Abnormality of nucleobase metabolism (HP:0010932)1.98440301
77Abdominal distention (HP:0003270)1.97456551
78Skin nodule (HP:0200036)1.97349222
79Congenital sensorineural hearing impairment (HP:0008527)1.96049914
80Megaloblastic anemia (HP:0001889)1.95457036
81Flat acetabular roof (HP:0003180)1.93004875
82Abnormality of purine metabolism (HP:0004352)1.92482823
83Abnormal tarsal ossification (HP:0008369)1.91693292
84Thin bony cortex (HP:0002753)1.90880724
85Hyperuricemia (HP:0002149)1.90333010
86Increased purine levels (HP:0004368)1.90333010
87Cardiovascular calcification (HP:0011915)1.89786233
88Hyperaldosteronism (HP:0000859)1.87855031
89Prominent nose (HP:0000448)1.84315885
90Growth hormone excess (HP:0000845)1.77195838
91Generalized aminoaciduria (HP:0002909)1.75620345
92Glomerulosclerosis (HP:0000096)1.75392117
93Nausea (HP:0002018)1.70698172
94Abnormality of carpal bone ossification (HP:0006257)1.70299150
95Metabolic acidosis (HP:0001942)1.69322319
96Hyperparathyroidism (HP:0000843)1.69014968
97Enlarged kidneys (HP:0000105)1.67268099
98Pheochromocytoma (HP:0002666)1.66057784
99Late onset (HP:0003584)1.66031561
100Alveolar cell carcinoma (HP:0006519)1.65681982

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ACVR1B5.03561269
2ERBB44.48174821
3ICK4.02748372
4MAP3K143.84326437
5TAOK32.82436364
6TXK2.60056527
7AKT32.55026492
8RIPK12.37594775
9FGFR42.28496927
10PRKG22.20285878
11NTRK12.08740650
12MET2.07727480
13CAMKK22.00514952
14ERN12.00241058
15MST1R1.95778863
16EPHA21.89217635
17JAK11.82953545
18FGFR31.77420234
19GRK61.72518911
20SIK31.69209470
21STK391.56942168
22CDK121.55985315
23TBK11.50125163
24LATS11.48784611
25MAP3K101.43066604
26MAP2K21.40383318
27PDGFRA1.39517415
28MAPK111.37489012
29TRPM71.35245344
30PTK21.33187559
31PTK61.28094513
32RET1.26276089
33BRSK21.20061619
34FLT31.10400448
35TYK21.08074935
36JAK31.05116522
37MAP3K21.04566663
38MAP3K61.03031437
39MELK1.02860729
40PDPK11.01460823
41OXSR10.99785240
42PDK10.99681876
43ZAP700.89545046
44MST40.88742078
45PRKAA20.86255627
46PIK3CA0.85690707
47TESK20.83789050
48BMPR20.83740439
49EPHB10.83427694
50PDGFRB0.79394564
51FGR0.76891428
52PINK10.76389280
53MAP3K120.73439909
54KDR0.72771740
55YES10.68237915
56MAP3K10.67841271
57MATK0.67610503
58STK380.65320770
59CAMKK10.64183950
60ITK0.63782665
61FRK0.61481163
62BRD40.57528713
63LCK0.56252871
64EPHA30.55747873
65IGF1R0.55156584
66IKBKE0.55082970
67CSF1R0.55033048
68SGK30.50444098
69NLK0.47758414
70MAP4K20.47019875
71MAP3K70.45729078
72MAP4K10.43792081
73DYRK1B0.42089220
74IKBKB0.41013959
75MAP3K50.38667911
76ATR0.38525705
77TRIB30.38035989
78PIM10.37880485
79CSK0.37714364
80CAMK2B0.37363969
81IRAK30.36482355
82* PRKACG0.36022021
83PRPF4B0.35703765
84NEK20.35007943
85CDK90.34635357
86SMG10.33364404
87STK30.32746445
88EEF2K0.32707961
89MAP3K40.32192812
90MARK30.31923729
91MYLK0.31122038
92FYN0.29964198
93PRKCQ0.29405002
94SRC0.29063206
95SIK20.27853000
96MAP3K80.27793477
97LMTK20.27353772
98SYK0.26212189
99STK100.25117493
100AKT20.24948006

Predicted pathways (KEGG)

RankGene SetZ-score
1Cyanoamino acid metabolism_Homo sapiens_hsa004604.11565299
2Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.52023486
3Fat digestion and absorption_Homo sapiens_hsa049753.51994920
4Vitamin digestion and absorption_Homo sapiens_hsa049773.31676662
5Renin-angiotensin system_Homo sapiens_hsa046143.01539187
6Pentose and glucuronate interconversions_Homo sapiens_hsa000402.95690119
7Caffeine metabolism_Homo sapiens_hsa002322.77120860
8Retinol metabolism_Homo sapiens_hsa008302.51841659
9Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.50155879
10Starch and sucrose metabolism_Homo sapiens_hsa005002.49889530
11Steroid hormone biosynthesis_Homo sapiens_hsa001402.37950209
12Histidine metabolism_Homo sapiens_hsa003402.34313633
13Chemical carcinogenesis_Homo sapiens_hsa052042.33117091
14* Bile secretion_Homo sapiens_hsa049762.32049310
15Arginine biosynthesis_Homo sapiens_hsa002202.29534446
16Drug metabolism - other enzymes_Homo sapiens_hsa009832.20046275
17Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.11850959
18Tryptophan metabolism_Homo sapiens_hsa003801.81532883
19Fatty acid degradation_Homo sapiens_hsa000711.77354554
20Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.76713017
21PPAR signaling pathway_Homo sapiens_hsa033201.70929688
22Sulfur metabolism_Homo sapiens_hsa009201.70204339
23Mineral absorption_Homo sapiens_hsa049781.66676152
24Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.66567090
25Maturity onset diabetes of the young_Homo sapiens_hsa049501.65913931
26Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.54582642
27Complement and coagulation cascades_Homo sapiens_hsa046101.54238006
28Galactose metabolism_Homo sapiens_hsa000521.53642332
29Phenylalanine metabolism_Homo sapiens_hsa003601.52886275
30Carbohydrate digestion and absorption_Homo sapiens_hsa049731.52740748
31Fructose and mannose metabolism_Homo sapiens_hsa000511.51875644
32Protein digestion and absorption_Homo sapiens_hsa049741.46939469
33Linoleic acid metabolism_Homo sapiens_hsa005911.43171377
34Selenocompound metabolism_Homo sapiens_hsa004501.33479354
35Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.33345488
36Glycerolipid metabolism_Homo sapiens_hsa005611.15826103
37* ABC transporters_Homo sapiens_hsa020101.10670544
38Primary bile acid biosynthesis_Homo sapiens_hsa001201.10640905
39Arginine and proline metabolism_Homo sapiens_hsa003301.06495599
40Arachidonic acid metabolism_Homo sapiens_hsa005900.99924077
41Tyrosine metabolism_Homo sapiens_hsa003500.95869276
42Peroxisome_Homo sapiens_hsa041460.84753955
43Sphingolipid metabolism_Homo sapiens_hsa006000.84020487
44Pentose phosphate pathway_Homo sapiens_hsa000300.81047968
45alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.79419217
46Butanoate metabolism_Homo sapiens_hsa006500.73406068
47Insulin resistance_Homo sapiens_hsa049310.67261743
48Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.64696219
49Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.63857351
50Fatty acid metabolism_Homo sapiens_hsa012120.63171189
51Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.57654770
52Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.56836163
53Adipocytokine signaling pathway_Homo sapiens_hsa049200.56583555
54Pancreatic secretion_Homo sapiens_hsa049720.54922114
55Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.54921932
56Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.53857358
57Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.52466710
58Ether lipid metabolism_Homo sapiens_hsa005650.52057828
59Renin secretion_Homo sapiens_hsa049240.50813355
60Glucagon signaling pathway_Homo sapiens_hsa049220.47972371
61Vitamin B6 metabolism_Homo sapiens_hsa007500.47079753
62Thyroid hormone synthesis_Homo sapiens_hsa049180.44302897
63Staphylococcus aureus infection_Homo sapiens_hsa051500.42859380
64Glycerophospholipid metabolism_Homo sapiens_hsa005640.42577590
65Biosynthesis of amino acids_Homo sapiens_hsa012300.41241537
66Folate biosynthesis_Homo sapiens_hsa007900.40184349
67Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.36654043
68Aldosterone synthesis and secretion_Homo sapiens_hsa049250.35805041
69Other glycan degradation_Homo sapiens_hsa005110.34668120
70Carbon metabolism_Homo sapiens_hsa012000.32838850
71Prion diseases_Homo sapiens_hsa050200.28580448
72beta-Alanine metabolism_Homo sapiens_hsa004100.27335641
732-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.25919597
74Inositol phosphate metabolism_Homo sapiens_hsa005620.25474496
75Pertussis_Homo sapiens_hsa051330.25391958
76Antigen processing and presentation_Homo sapiens_hsa046120.23927648
77Hepatitis C_Homo sapiens_hsa051600.22978563
78Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.20710422
79Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.19947684
80Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.19858971
81AMPK signaling pathway_Homo sapiens_hsa041520.19133243
82Phosphatidylinositol signaling system_Homo sapiens_hsa040700.18979975
83Glutathione metabolism_Homo sapiens_hsa004800.18847579
84Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.17237803
85Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.17139176
86Insulin signaling pathway_Homo sapiens_hsa049100.14341247
87Tight junction_Homo sapiens_hsa045300.14153729
88Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.14124377
89Nitrogen metabolism_Homo sapiens_hsa009100.12767179
90Intestinal immune network for IgA production_Homo sapiens_hsa046720.12747240
91Leukocyte transendothelial migration_Homo sapiens_hsa046700.12642226
92N-Glycan biosynthesis_Homo sapiens_hsa005100.11515578
93Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.11354150
94Serotonergic synapse_Homo sapiens_hsa047260.10559300
95Metabolic pathways_Homo sapiens_hsa011000.10439682
96Amphetamine addiction_Homo sapiens_hsa050310.09605574
97Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.09348704
98Thyroid cancer_Homo sapiens_hsa052160.08111239
99Prolactin signaling pathway_Homo sapiens_hsa049170.07984579
100Ovarian steroidogenesis_Homo sapiens_hsa049130.07545880

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