KCNQ1

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: This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1bundle of His cell to Purkinje myocyte communication (GO:0086069)7.73068658
2sarcomere organization (GO:0045214)5.87589659
3intestinal cholesterol absorption (GO:0030299)5.78322696
4tricarboxylic acid cycle (GO:0006099)5.28168880
5* ventricular cardiac muscle cell action potential (GO:0086005)5.16484459
6transcytosis (GO:0045056)5.09596104
7mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.06069939
8intestinal absorption (GO:0050892)5.05759504
9negative regulation of potassium ion transmembrane transporter activity (GO:1901017)4.77748868
10positive regulation of gamma-delta T cell activation (GO:0046645)4.70347992
11cardiac myofibril assembly (GO:0055003)4.67300823
12NADH metabolic process (GO:0006734)4.65240452
13neutrophil activation involved in immune response (GO:0002283)4.63757970
14negative regulation of cell killing (GO:0031342)4.56858118
15negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.56858118
16ATP synthesis coupled proton transport (GO:0015986)4.55086167
17energy coupled proton transport, down electrochemical gradient (GO:0015985)4.55086167
18response to peptidoglycan (GO:0032494)4.51327849
19respiratory electron transport chain (GO:0022904)4.47351447
20antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.44901586
21modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.44728138
22modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.44728138
23positive regulation by organism of defense response of other organism involved in symbiotic interact4.44728138
24modulation by symbiont of host immune response (GO:0052553)4.44728138
25positive regulation by symbiont of host defense response (GO:0052509)4.44728138
26modulation by symbiont of host defense response (GO:0052031)4.44728138
27regulation of cardioblast differentiation (GO:0051890)4.44464314
28electron transport chain (GO:0022900)4.35820313
29macrophage activation involved in immune response (GO:0002281)4.33699491
30antigen processing and presentation of endogenous antigen (GO:0019883)4.32349000
31positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.24874027
32antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.24636630
33negative regulation of potassium ion transmembrane transport (GO:1901380)4.22236066
34regulation of actin filament-based movement (GO:1903115)4.22174177
35digestion (GO:0007586)4.21206282
36detection of other organism (GO:0098543)4.19774578
37cell communication involved in cardiac conduction (GO:0086065)4.16821060
38mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.15057488
39intestinal epithelial cell development (GO:0060576)4.09827045
40myofibril assembly (GO:0030239)4.03091905
41detection of bacterium (GO:0016045)4.03087471
42negative regulation of interleukin-12 production (GO:0032695)3.97973990
43antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.92732172
44heart trabecula formation (GO:0060347)3.89740661
45detection of molecule of bacterial origin (GO:0032490)3.89169951
46regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.85596269
47immunoglobulin mediated immune response (GO:0016064)3.84623405
48* cardiac muscle contraction (GO:0060048)3.82948630
49regulation of sarcomere organization (GO:0060297)3.81808050
50detection of external biotic stimulus (GO:0098581)3.80790417
51lysine metabolic process (GO:0006553)3.80331453
52lysine catabolic process (GO:0006554)3.80331453
53actomyosin structure organization (GO:0031032)3.77818056
54regulation of respiratory burst (GO:0060263)3.76947118
55cardiac muscle cell development (GO:0055013)3.75354148
56pyrimidine ribonucleoside catabolic process (GO:0046133)3.70289446
57regulation of skeletal muscle contraction (GO:0014819)3.69994097
58cellular extravasation (GO:0045123)3.68650423
59oxidative phosphorylation (GO:0006119)3.66706371
60negative regulation of erythrocyte differentiation (GO:0045647)3.62228807
61regulation of gamma-delta T cell activation (GO:0046643)3.60414691
62desmosome organization (GO:0002934)3.60386590
63glucocorticoid biosynthetic process (GO:0006704)3.59154321
64regulation of cellular extravasation (GO:0002691)3.58860851
65relaxation of cardiac muscle (GO:0055119)3.57867136
66fatty acid beta-oxidation (GO:0006635)3.55723387
67regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.54842135
68cardiac cell development (GO:0055006)3.52116797
69regulation of interferon-beta biosynthetic process (GO:0045357)3.49178238
70antibacterial humoral response (GO:0019731)3.48821263
71cytidine metabolic process (GO:0046087)3.47192853
72cytidine catabolic process (GO:0006216)3.47192853
73cytidine deamination (GO:0009972)3.47192853
74regulation of cardiac muscle cell contraction (GO:0086004)3.44010595
75aspartate family amino acid catabolic process (GO:0009068)3.43786997
76carnitine shuttle (GO:0006853)3.41460206
77regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.40444319
78detection of biotic stimulus (GO:0009595)3.37209427
79antimicrobial humoral response (GO:0019730)3.35092477
80proline biosynthetic process (GO:0006561)3.34355668
81ethanol metabolic process (GO:0006067)3.32156578
82short-chain fatty acid metabolic process (GO:0046459)3.31827850
83exocrine pancreas development (GO:0031017)3.29351875
84ventricular cardiac muscle tissue morphogenesis (GO:0055010)3.29046065
85regulation of mast cell degranulation (GO:0043304)3.27197053
86cardiac muscle hypertrophy (GO:0003300)3.27176365
87homocysteine metabolic process (GO:0050667)3.27044187
88cardiac muscle tissue morphogenesis (GO:0055008)3.25684498
89regulation of dendritic cell antigen processing and presentation (GO:0002604)3.21461237
90granulocyte activation (GO:0036230)3.19329296
91response to muramyl dipeptide (GO:0032495)3.18464952
92neutrophil activation (GO:0042119)3.17434140
93cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.14604071
94germinal center formation (GO:0002467)3.11935128
95muscle filament sliding (GO:0030049)3.09934125
96actin-myosin filament sliding (GO:0033275)3.09934125
97cellular ketone body metabolic process (GO:0046950)3.09112105
98fatty acid catabolic process (GO:0009062)3.08133473
99regulation of myeloid leukocyte mediated immunity (GO:0002886)3.08119879
100regulation of gamma-delta T cell differentiation (GO:0045586)3.07738406
101branched-chain amino acid catabolic process (GO:0009083)3.07700231
102respiratory burst (GO:0045730)3.07593368
103* cardiac conduction (GO:0061337)3.07108141
104lipopolysaccharide-mediated signaling pathway (GO:0031663)3.06766271
105macrophage activation (GO:0042116)3.05788184
106regulation of leukocyte degranulation (GO:0043300)3.05702100
107striated muscle hypertrophy (GO:0014897)3.04667071
108myeloid cell activation involved in immune response (GO:0002275)3.04515953
1092-oxoglutarate metabolic process (GO:0006103)3.04072205
110* regulation of heart rate by cardiac conduction (GO:0086091)3.03840641
111regulation of T-helper 2 cell differentiation (GO:0045628)3.03235251
112interferon-gamma-mediated signaling pathway (GO:0060333)3.03135717
113regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.01062411
114fatty acid transmembrane transport (GO:1902001)3.00558519
115* cardiac muscle cell action potential involved in contraction (GO:0086002)3.00225978
116ATP biosynthetic process (GO:0006754)2.99556493
117regulation of relaxation of muscle (GO:1901077)2.98974211
118positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.98514745
119negative regulation of lymphocyte mediated immunity (GO:0002707)2.96987066
120regulation of mast cell activation involved in immune response (GO:0033006)2.96523217
121regulation of striated muscle contraction (GO:0006942)2.95385730
122actin-mediated cell contraction (GO:0070252)2.95298838
123NIK/NF-kappaB signaling (GO:0038061)2.94443197
124regulation of antigen processing and presentation (GO:0002577)2.93677118
125* cardiac muscle cell action potential (GO:0086001)2.93293275
126UDP-N-acetylglucosamine metabolic process (GO:0006047)2.92927860
127cellular response to type I interferon (GO:0071357)2.92917326
128type I interferon signaling pathway (GO:0060337)2.92917326
129regulation of T cell tolerance induction (GO:0002664)2.92565021
130response to type I interferon (GO:0034340)2.92378711
131response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.91683615
132response to host immune response (GO:0052572)2.91683615
133T-helper 1 type immune response (GO:0042088)2.90817837
134muscle tissue morphogenesis (GO:0060415)2.90793412
135positive regulation of antigen processing and presentation (GO:0002579)2.90095706
136leukocyte aggregation (GO:0070486)2.89596885
137positive regulation of cellular amide metabolic process (GO:0034250)2.89311916
138fatty acid oxidation (GO:0019395)2.89292437
139regulation of tolerance induction (GO:0002643)2.89181493
140epithelial cell-cell adhesion (GO:0090136)2.88595957
141atrioventricular valve morphogenesis (GO:0003181)2.88564017
142calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)2.88456574
143digestive system process (GO:0022600)2.87330354
144protein retention in ER lumen (GO:0006621)2.86122315
145positive regulation of mast cell activation (GO:0033005)2.85289735
146regulation of B cell receptor signaling pathway (GO:0050855)2.84796765
147succinate metabolic process (GO:0006105)2.83976463
148tricarboxylic acid metabolic process (GO:0072350)2.83466615
149negative regulation of glial cell proliferation (GO:0060253)2.83198022
150defense response to protozoan (GO:0042832)2.83197637
151adult heart development (GO:0007512)2.81915711
152negative regulation of leukocyte mediated immunity (GO:0002704)2.81625652
153lipid oxidation (GO:0034440)2.80938922
154biotin metabolic process (GO:0006768)2.79804827
155cobalamin metabolic process (GO:0009235)2.79682711
156branched-chain amino acid metabolic process (GO:0009081)2.79268929
157microglial cell activation (GO:0001774)2.79233466
158B cell mediated immunity (GO:0019724)2.78764146
159mannose metabolic process (GO:0006013)2.77907386
160negative regulation of cytokine production involved in immune response (GO:0002719)2.76795419
161* striated muscle contraction (GO:0006941)2.75779978
162amino-acid betaine transport (GO:0015838)2.75460157
163carnitine transport (GO:0015879)2.75460157
164regulation of the force of heart contraction (GO:0002026)2.73840586
165myeloid dendritic cell differentiation (GO:0043011)2.72361299
166regulation of cardiac muscle contraction (GO:0055117)2.72096935
167positive regulation of type 2 immune response (GO:0002830)2.70456221
168carnitine transmembrane transport (GO:1902603)2.70328141
169hemidesmosome assembly (GO:0031581)2.69821626
170response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.69451260
171response to host (GO:0075136)2.69451260
172response to host defenses (GO:0052200)2.69451260
173regulation of mast cell activation (GO:0033003)2.69375187
174positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.66149535
175response to protozoan (GO:0001562)2.65983038
176response to laminar fluid shear stress (GO:0034616)2.64753575
177positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.63070226
178glycosphingolipid catabolic process (GO:0046479)2.63028671
179positive regulation of mast cell degranulation (GO:0043306)2.62645823
180positive regulation of mast cell activation involved in immune response (GO:0033008)2.62645823
181positive thymic T cell selection (GO:0045059)2.62192170
182negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.59835820
183production of molecular mediator involved in inflammatory response (GO:0002532)2.59064429
184negative regulation of interleukin-6 production (GO:0032715)2.58872669
185negative regulation of toll-like receptor signaling pathway (GO:0034122)2.56443817
186regulation of type 2 immune response (GO:0002828)2.56336606
187myeloid dendritic cell activation (GO:0001773)2.56065932
188regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.55136193
189negative regulation of type 2 immune response (GO:0002829)2.52888306
190dendritic cell chemotaxis (GO:0002407)2.50743696
191peptide catabolic process (GO:0043171)2.50304033
192negative regulation of T cell mediated immunity (GO:0002710)2.49799083
193regulation of regulated secretory pathway (GO:1903305)2.49237048
194positive regulation of B cell differentiation (GO:0045579)2.48759025
195regulation of interferon-alpha production (GO:0032647)2.48757139
196positive regulation of myeloid leukocyte mediated immunity (GO:0002888)2.48407411
197regulation of podosome assembly (GO:0071801)2.47993528
198positive regulation of tolerance induction (GO:0002645)2.46663703
199glucocorticoid metabolic process (GO:0008211)2.46060969

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human7.16461048
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.13506938
3IRF8_22096565_ChIP-ChIP_GC-B_Human4.76774219
4BP1_19119308_ChIP-ChIP_Hs578T_Human4.44182129
5CDX2_20551321_ChIP-Seq_CACO-2_Human3.73378351
6ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.58882550
7TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.48487944
8IRF8_21731497_ChIP-ChIP_J774_Mouse3.35741230
9SOX2_27498859_Chip-Seq_STOMACH_Mouse3.35207699
10PPARA_22158963_ChIP-Seq_LIVER_Mouse3.09895016
11SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.93259927
12HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.92899580
13STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.89365461
14IRF8_27001747_Chip-Seq_BMDM_Mouse2.86219918
15* GATA4_25053715_ChIP-Seq_YYC3_Human2.78762101
16MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.71568665
17RXR_22158963_ChIP-Seq_LIVER_Mouse2.62653871
18RARG_19884340_ChIP-ChIP_MEFs_Mouse2.61774170
19NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.59276715
20LXR_22158963_ChIP-Seq_LIVER_Mouse2.58821109
21ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.56806590
22IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.55791776
23* GATA6_25053715_ChIP-Seq_YYC3_Human2.55235659
24NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.54789943
25EP300_21415370_ChIP-Seq_HL-1_Mouse2.53009160
26VDR_21846776_ChIP-Seq_THP-1_Human2.48109802
27STAT6_21828071_ChIP-Seq_BEAS2B_Human2.43642392
28RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.39277367
29VDR_24763502_ChIP-Seq_THP-1_Human2.37840413
30FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.37288306
31ESR1_21235772_ChIP-Seq_MCF-7_Human2.33535629
32TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.30515892
33MYB_21317192_ChIP-Seq_ERMYB_Mouse2.21945790
34ZNF263_19887448_ChIP-Seq_K562_Human2.18768847
35VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.15914639
36* TBX20_22328084_ChIP-Seq_HEART_Mouse2.14721375
37* TBX20_22080862_ChIP-Seq_HEART_Mouse2.14721375
38* SPI1_23127762_ChIP-Seq_K562_Human2.14051357
39PPARD_23208498_ChIP-Seq_MDA-MB-231_Human2.13813910
40* SOX2_20726797_ChIP-Seq_SW620_Human2.13313499
41KDM2B_26808549_Chip-Seq_SUP-B15_Human2.11330891
42NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.07995965
43STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.07537912
44ESR2_21235772_ChIP-Seq_MCF-7_Human2.05876522
45Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.02851356
46ESR1_20079471_ChIP-ChIP_T-47D_Human1.99559171
47STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.99494451
48E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.98259897
49NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.94647071
50SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.94528797
51RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.90395109
52RUNX_20019798_ChIP-Seq_JUKART_Human1.89269924
53SCL_19346495_ChIP-Seq_HPC-7_Human1.85629079
54BRD4_27068464_Chip-Seq_AML-cells_Mouse1.84206930
55TCF7_22412390_ChIP-Seq_EML_Mouse1.82876499
56PPAR_26484153_Chip-Seq_NCI-H1993_Human1.80651919
57STAT4_19710469_ChIP-ChIP_TH1__Mouse1.80227729
58GATA1_22025678_ChIP-Seq_K562_Human1.79943236
59SPI1_23547873_ChIP-Seq_NB4_Human1.78627133
60RUNX1_22412390_ChIP-Seq_EML_Mouse1.78367706
61IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.72704037
62VDR_24787735_ChIP-Seq_THP-1_Human1.72565216
63CDX2_19796622_ChIP-Seq_MESCs_Mouse1.72268162
64RUNX1_27514584_Chip-Seq_MCF-7_Human1.71513705
65MAF_26560356_Chip-Seq_TH1_Human1.71417943
66FOXO3_23340844_ChIP-Seq_DLD1_Human1.71008941
67KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.67816312
68TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.66862110
69TRIM28_21343339_ChIP-Seq_HEK293_Human1.65638764
70KDM2B_26808549_Chip-Seq_DND41_Human1.65196319
71FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.63614353
72SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.62813766
73EGR1_19374776_ChIP-ChIP_THP-1_Human1.62294299
74ELK3_25401928_ChIP-Seq_HUVEC_Human1.62141696
75KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.60407345
76NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.59048466
77FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.58898535
78MYC_22102868_ChIP-Seq_BL_Human1.56971399
79CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.55916047
80ATF3_27146783_Chip-Seq_COLON_Human1.55890978
81RACK7_27058665_Chip-Seq_MCF-7_Human1.55746212
82GATA2_21666600_ChIP-Seq_HMVEC_Human1.54980756
83CLOCK_20551151_ChIP-Seq_293T_Human1.52202747
84* UTX_26944678_Chip-Seq_JUKART_Human1.51471681
85ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.49638524
86GATA1_19941827_ChIP-Seq_MEL_Mouse1.47010999
87CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.45651413
88MYB_26560356_Chip-Seq_TH2_Human1.45609807
89FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.45468869
90TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.44791650
91MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.41919674
92GATA1_19941826_ChIP-Seq_K562_Human1.39846847
93AR_21909140_ChIP-Seq_LNCAP_Human1.33544392
94CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.33164128
95LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.32872624
96TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.31870923
97P63_26484246_Chip-Seq_KERATINOCYTES_Human1.31089392
98* FOXA2_19822575_ChIP-Seq_HepG2_Human1.29736351
99MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.29085591
100KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.28761331
101PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.28760687
102ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.28194006
103MYB_26560356_Chip-Seq_TH1_Human1.28047741
104TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.27708305
105CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.25527291
106FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.24493582
107* MAF_26560356_Chip-Seq_TH2_Human1.23749945
108PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.23525619
109PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.22974091
110GATA3_24758297_ChIP-Seq_MCF-7_Human1.21848585
111* TP63_22573176_ChIP-Seq_HFKS_Human1.19579212
112TCF4_18268006_ChIP-ChIP_LS174T_Human1.19457007
113* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.18415493
114IKZF1_21737484_ChIP-ChIP_HCT116_Human1.16273039
115GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.16183467
116LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.16024297
117PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.15573221
118* GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.14937486
119KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.14594695
120GATA1_22383799_ChIP-Seq_G1ME_Mouse1.12801034
121BCOR_27268052_Chip-Seq_Bcells_Human1.11792765
122BCL6_27268052_Chip-Seq_Bcells_Human1.11326537
123* HNF4A_19822575_ChIP-Seq_HepG2_Human1.10953029
124GATA2_22383799_ChIP-Seq_G1ME_Mouse1.10489455
125KLF5_25053715_ChIP-Seq_YYC3_Human1.10097895
126KDM2B_26808549_Chip-Seq_K562_Human1.09927847
127GATA4_21415370_ChIP-Seq_HL-1_Mouse1.09622241
128ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.07971620
129PU_27001747_Chip-Seq_BMDM_Mouse1.07701561
130* GATA3_27048872_Chip-Seq_THYMUS_Human1.06727173
131SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.06721949
132BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.06383858
133CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.06297101
134SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.05234208
135CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.04818201
136KDM2B_26808549_Chip-Seq_JURKAT_Human1.04723558
137CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.04131619
138PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.02861473
139SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.02624346
140SMAD_19615063_ChIP-ChIP_OVARY_Human1.00771291
141SALL4_18804426_ChIP-ChIP_XEN_Mouse0.99976954
142ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.99796589
143SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.99413830
144SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.99413830
145CTCF_27219007_Chip-Seq_ERYTHROID_Human0.97394058
146THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.95790044
147* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.95752454
148HIF1A_21447827_ChIP-Seq_MCF-7_Human0.95443104
149AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.94800009
150* SOX9_24532713_ChIP-Seq_HFSC_Mouse0.94387328
151PU.1_20513432_ChIP-Seq_Bcells_Mouse0.92849226
152STAT3_1855785_ChIP-Seq_MESCs_Mouse0.91815504
153VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.91183259
154* LXR_22292898_ChIP-Seq_THP-1_Human0.90952895
155P68_20966046_ChIP-Seq_HELA_Human0.90681371
156FOXA1_25552417_ChIP-Seq_VCAP_Human0.90128588
157CREB1_26743006_Chip-Seq_LNCaP_Human0.90053070
158STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.89962449
159PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.89605306
160NANOG_20526341_ChIP-Seq_ESCs_Human0.89212672
161TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.88609214
162ISL1_27105846_Chip-Seq_CPCs_Mouse0.88604216
163CJUN_26792858_Chip-Seq_BT549_Human0.88592733
164PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.86672945
165NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.86285127
166JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.84795510
167FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.84108652
168ZNF217_24962896_ChIP-Seq_MCF-7_Human0.83073846
169FOXM1_26456572_ChIP-Seq_MCF-7_Human0.81838214
170RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.80854740
171CTCF_27219007_Chip-Seq_Bcells_Human0.80741871
172CTNNB1_20460455_ChIP-Seq_HCT116_Human0.80732404
173GATA2_19941826_ChIP-Seq_K562_Human0.78422024
174CEBPB_22108803_ChIP-Seq_LS180_Human0.76865597
175TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.74901728
176SMAD3_21741376_ChIP-Seq_HESCs_Human0.74704366

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003303_peritoneal_inflammation4.16194863
2MP0001666_abnormal_nutrient_absorption4.08284845
3MP0002837_dystrophic_cardiac_calcinosis4.04359316
4MP0003724_increased_susceptibility_to3.92463046
5MP0004084_abnormal_cardiac_muscle3.73874895
6MP0003436_decreased_susceptibility_to3.69465546
7MP0004215_abnormal_myocardial_fiber3.57701908
8MP0005083_abnormal_biliary_tract3.32411950
9MP0001835_abnormal_antigen_presentation2.99723286
10MP0005085_abnormal_gallbladder_physiolo2.96077959
11MP0005058_abnormal_lysosome_morphology2.94338902
12MP0005360_urolithiasis2.92623903
13MP0003646_muscle_fatigue2.92487252
14MP0002138_abnormal_hepatobiliary_system2.86740639
15MP0006082_CNS_inflammation2.82592568
16MP0002419_abnormal_innate_immunity2.73720232
17MP0001790_abnormal_immune_system2.70258671
18MP0005387_immune_system_phenotype2.70258671
19MP0000751_myopathy2.67576043
20MP0005330_cardiomyopathy2.62902799
21MP0005365_abnormal_bile_salt2.60227170
22MP0009785_altered_susceptibility_to2.59346062
23MP0005671_abnormal_response_to2.59039006
24MP0005025_abnormal_response_to2.55444284
25MP0002148_abnormal_hypersensitivity_rea2.44092399
26MP0003300_gastrointestinal_ulcer2.43834084
27MP0005000_abnormal_immune_tolerance2.39850873
28MP0004036_abnormal_muscle_relaxation2.35302986
29MP0004264_abnormal_extraembryonic_tissu2.30398795
30MP0010234_abnormal_vibrissa_follicle2.29084439
31MP0004484_altered_response_of2.28565088
32MP0001800_abnormal_humoral_immune2.28289543
33MP0002139_abnormal_hepatobiliary_system2.26907512
34MP0009840_abnormal_foam_cell2.25662612
35MP0000462_abnormal_digestive_system2.24628832
36MP0002972_abnormal_cardiac_muscle2.21948275
37MP0000685_abnormal_immune_system2.18632694
38MP0002452_abnormal_antigen_presenting2.14131300
39MP0001873_stomach_inflammation2.11161708
40MP0003172_abnormal_lysosome_physiology2.09703421
41MP0003191_abnormal_cellular_cholesterol2.08993772
42MP0001533_abnormal_skeleton_physiology2.08628134
43MP0002723_abnormal_immune_serum2.08586176
44MP0005084_abnormal_gallbladder_morpholo2.01081681
45MP0003252_abnormal_bile_duct1.99382186
46MP0009379_abnormal_foot_pigmentation1.96145742
47MP0002420_abnormal_adaptive_immunity1.95308930
48MP0001819_abnormal_immune_cell1.94695697
49MP0008775_abnormal_heart_ventricle1.93970776
50MP0003828_pulmonary_edema1.89107640
51MP0004947_skin_inflammation1.87688086
52MP0006138_congestive_heart_failure1.86681851
53MP0010630_abnormal_cardiac_muscle1.80998345
54MP0004087_abnormal_muscle_fiber1.80976430
55MP0001544_abnormal_cardiovascular_syste1.76699411
56MP0005385_cardiovascular_system_phenoty1.76699411
57MP0005220_abnormal_exocrine_pancreas1.72466989
58MP0003075_altered_response_to1.70743929
59MP0001845_abnormal_inflammatory_respons1.70722617
60MP0001663_abnormal_digestive_system1.69691319
61MP0010368_abnormal_lymphatic_system1.67609482
62MP0005620_abnormal_muscle_contractility1.67279760
63MP0002405_respiratory_system_inflammati1.66913436
64MP0002998_abnormal_bone_remodeling1.64634701
65MP0004043_abnormal_pH_regulation1.64548630
66MP0003183_abnormal_peptide_metabolism1.62412066
67MP0000749_muscle_degeneration1.61108562
68MP0009278_abnormal_bone_marrow1.60697714
69MP0005166_decreased_susceptibility_to1.58226709
70MP0005464_abnormal_platelet_physiology1.57782884
71MP0005381_digestive/alimentary_phenotyp1.52840859
72MP0006036_abnormal_mitochondrial_physio1.51561426
73MP0005310_abnormal_salivary_gland1.51183297
74MP0009643_abnormal_urine_homeostasis1.50954939
75MP0005165_increased_susceptibility_to1.49485677
76MP0000750_abnormal_muscle_regeneration1.49482464
77MP0000343_altered_response_to1.49443450
78* MP0003137_abnormal_impulse_conducting1.49144212
79MP0003868_abnormal_feces_composition1.48534339
80MP0008469_abnormal_protein_level1.48415269
81MP0000465_gastrointestinal_hemorrhage1.47484449
82MP0009764_decreased_sensitivity_to1.44379176
83MP0009333_abnormal_splenocyte_physiolog1.42644330
84MP0003763_abnormal_thymus_physiology1.41905799
85* MP0001664_abnormal_digestion1.40114723
86MP0003806_abnormal_nucleotide_metabolis1.39758066
87MP0000716_abnormal_immune_system1.39406954
88MP0006054_spinal_hemorrhage1.39009394
89MP0008260_abnormal_autophagy1.37004955
90MP0010155_abnormal_intestine_physiology1.35269260
91MP0000604_amyloidosis1.33877096
92MP0003705_abnormal_hypodermis_morpholog1.31028964
93MP0004130_abnormal_muscle_cell1.30366959
94MP0000537_abnormal_urethra_morphology1.29439173
95MP0000490_abnormal_crypts_of1.27438186
96MP0002132_abnormal_respiratory_system1.23171750
97MP0000858_altered_metastatic_potential1.22871562
98MP0002398_abnormal_bone_marrow1.22136795
99MP0004085_abnormal_heartbeat1.21982055
100MP0003866_abnormal_defecation1.21077887
101MP0005451_abnormal_body_composition1.19200458
102MP0005332_abnormal_amino_acid1.18222175
103MP0001765_abnormal_ion_homeostasis1.16869456
104MP0003690_abnormal_glial_cell1.16336844
105MP0003221_abnormal_cardiomyocyte_apopto1.16061764
106MP0001853_heart_inflammation1.15362098
107MP0002127_abnormal_cardiovascular_syste1.14914336
108MP0002254_reproductive_system_inflammat1.14448430
109MP0001545_abnormal_hematopoietic_system1.11971105
110MP0005397_hematopoietic_system_phenotyp1.11971105
111MP0001851_eye_inflammation1.10039917
112MP0008875_abnormal_xenobiotic_pharmacok1.09349335
113MP0002928_abnormal_bile_duct1.08282399
114MP0000689_abnormal_spleen_morphology1.06826390
115MP0004233_abnormal_muscle_weight1.06485745
116MP0002429_abnormal_blood_cell1.06418106
117MP0003950_abnormal_plasma_membrane1.05601700
118MP0003453_abnormal_keratinocyte_physiol1.04972140
119MP0004883_abnormal_blood_vessel1.04839766
120MP0001879_abnormal_lymphatic_vessel1.04721048
121MP0003448_altered_tumor_morphology1.04607282
122MP0002722_abnormal_immune_system1.04591872
123MP0004272_abnormal_basement_membrane1.03203675
124* MP0008004_abnormal_stomach_pH1.01621112
125MP0004019_abnormal_vitamin_homeostasis1.00170953
126MP0002106_abnormal_muscle_physiology0.99917675
127MP0005167_abnormal_blood-brain_barrier0.96897069
128MP0009384_cardiac_valve_regurgitation0.95813695
129MP0005666_abnormal_adipose_tissue0.93865640
130MP0005164_abnormal_response_to0.93391008
131MP0003567_abnormal_fetal_cardiomyocyte0.91759612
132MP0005319_abnormal_enzyme/_coenzyme0.91311777
133MP0002269_muscular_atrophy0.90737986
134MP0001756_abnormal_urination0.90668004
135MP0002277_abnormal_respiratory_mucosa0.89745298
136MP0000566_synostosis0.89102304
137MP0005390_skeleton_phenotype0.88422189
138MP0000230_abnormal_systemic_arterial0.88339219
139MP0000249_abnormal_blood_vessel0.87910293
140MP0000538_abnormal_urinary_bladder0.87732311
141MP0003879_abnormal_hair_cell0.87515339
142MP0010329_abnormal_lipoprotein_level0.82945044
143MP0004782_abnormal_surfactant_physiolog0.82696612
144MP0003091_abnormal_cell_migration0.82493008
145MP0000681_abnormal_thyroid_gland0.80271556
146MP0000613_abnormal_salivary_gland0.78932316
147MP0005076_abnormal_cell_differentiation0.78923913
148MP0002118_abnormal_lipid_homeostasis0.77895505
149MP0004510_myositis0.77777965
150MP0003123_paternal_imprinting0.77644233
151MP0000477_abnormal_intestine_morphology0.77314061
152MP0005636_abnormal_mineral_homeostasis0.77236113
153MP0009763_increased_sensitivity_to0.77223312
154MP0003566_abnormal_cell_adhesion0.73797946
155MP0002933_joint_inflammation0.73740383
156MP0003045_fibrosis0.73716467
157MP0005369_muscle_phenotype0.73475274
158MP0003329_amyloid_beta_deposits0.73282782
159MP0002166_altered_tumor_susceptibility0.72801285
160MP0004185_abnormal_adipocyte_glucose0.72771402
161* MP0000266_abnormal_heart_morphology0.71223015
162MP0003795_abnormal_bone_structure0.70830567
163MP0003283_abnormal_digestive_organ0.70692502
164MP0002098_abnormal_vibrissa_morphology0.69999297
165MP0002693_abnormal_pancreas_physiology0.69589555
166MP0000703_abnormal_thymus_morphology0.68223286
167MP0010352_gastrointestinal_tract_polyps0.65630626
168MP0004147_increased_porphyrin_level0.65389415
169MP0002234_abnormal_pharynx_morphology0.65304069
170MP0005375_adipose_tissue_phenotype0.64643761
171MP0001849_ear_inflammation0.64557330
172MP0002136_abnormal_kidney_physiology0.63038725
173MP0004858_abnormal_nervous_system0.62624050
174MP0000003_abnormal_adipose_tissue0.61390924
175* MP0000470_abnormal_stomach_morphology0.60744817
176MP0008874_decreased_physiological_sensi0.60739194

Predicted human phenotypes

RankGene SetZ-score
1Right ventricular cardiomyopathy (HP:0011663)6.25820795
2Eczematoid dermatitis (HP:0000976)5.64550331
3Sudden death (HP:0001699)5.44444991
4Ventricular tachycardia (HP:0004756)5.30659702
5Abnormality of macrophages (HP:0004311)5.08134664
6Recurrent gram-negative bacterial infections (HP:0005420)4.94015039
7* Ventricular fibrillation (HP:0001663)4.83129994
8Recurrent abscess formation (HP:0002722)4.75202763
9Recurrent bacterial skin infections (HP:0005406)4.67982584
10Systemic lupus erythematosus (HP:0002725)4.57289539
11Ileus (HP:0002595)4.47219866
12Palpitations (HP:0001962)4.45014183
13Myositis (HP:0100614)4.40805502
14Orchitis (HP:0100796)4.31132066
15Abnormality of liposaccharide metabolism (HP:0010968)4.23152175
16Abnormality of glycosphingolipid metabolism (HP:0004343)4.23152175
17Abnormality of glycolipid metabolism (HP:0010969)4.23152175
18* Syncope (HP:0001279)4.13183728
19Optic neuritis (HP:0100653)3.94738867
20Retrobulbar optic neuritis (HP:0100654)3.94738867
21Lipoatrophy (HP:0100578)3.77279370
22Hepatic necrosis (HP:0002605)3.75657188
23Ketoacidosis (HP:0001993)3.74260713
24Increased cerebral lipofuscin (HP:0011813)3.71473318
25Stomatitis (HP:0010280)3.61394175
26* Ventricular arrhythmia (HP:0004308)3.61331651
27Bundle branch block (HP:0011710)3.56896163
28* Atrial fibrillation (HP:0005110)3.51985561
29Vacuolated lymphocytes (HP:0001922)3.49999423
30Gout (HP:0001997)3.44348564
31Mediastinal lymphadenopathy (HP:0100721)3.41711678
32Dilated cardiomyopathy (HP:0001644)3.40067074
33Hypoglycemic coma (HP:0001325)3.37166047
34Dysostosis multiplex (HP:0000943)3.37048469
35Increased muscle lipid content (HP:0009058)3.36092656
36Myoglobinuria (HP:0002913)3.34438284
37* Prolonged QT interval (HP:0001657)3.33919308
38Hepatocellular necrosis (HP:0001404)3.32866455
39Spontaneous hematomas (HP:0007420)3.32805071
40Elevated erythrocyte sedimentation rate (HP:0003565)3.30174900
41Muscle fiber splitting (HP:0003555)3.26180858
42* Primary atrial arrhythmia (HP:0001692)3.21589497
43Loss of speech (HP:0002371)3.20293325
44Gingivitis (HP:0000230)3.19852300
45Rectal prolapse (HP:0002035)3.17543336
46* Supraventricular tachycardia (HP:0004755)3.12470303
47Increased intramyocellular lipid droplets (HP:0012240)3.09845026
48* Supraventricular arrhythmia (HP:0005115)3.09565694
49Glomerulonephritis (HP:0000099)3.08851065
50Decreased circulating renin level (HP:0003351)3.03537188
51Chronic obstructive pulmonary disease (HP:0006510)3.01532290
52Obstructive lung disease (HP:0006536)3.01532290
53Increased neuronal autofluorescent lipopigment (HP:0002074)3.00786097
54Calf muscle hypertrophy (HP:0008981)2.98710285
55Amyloidosis (HP:0011034)2.97660174
56Recurrent fungal infections (HP:0002841)2.97230760
57Keratoconjunctivitis sicca (HP:0001097)2.95284127
58Glycosuria (HP:0003076)2.92409704
59Abnormality of urine glucose concentration (HP:0011016)2.92409704
60Meningitis (HP:0001287)2.89933538
61Dicarboxylic aciduria (HP:0003215)2.89718041
62Abnormality of dicarboxylic acid metabolism (HP:0010995)2.89718041
63Recurrent skin infections (HP:0001581)2.88363640
64Mitochondrial inheritance (HP:0001427)2.86368491
65Complement deficiency (HP:0004431)2.86182653
66Hyperammonemia (HP:0001987)2.83679937
67Acute encephalopathy (HP:0006846)2.81443774
68Ketosis (HP:0001946)2.81370751
69Exercise-induced myalgia (HP:0003738)2.80914855
70Vasculitis (HP:0002633)2.79839401
71* Abnormal EKG (HP:0003115)2.78201076
72Abnormality of chloride homeostasis (HP:0011422)2.76974248
73Conjunctival hamartoma (HP:0100780)2.75142222
74Hyperglycinuria (HP:0003108)2.72104582
75Gastrointestinal infarctions (HP:0005244)2.71486787
76Increased IgE level (HP:0003212)2.70843621
77Lipid accumulation in hepatocytes (HP:0006561)2.70532544
78Abnormal mitochondria in muscle tissue (HP:0008316)2.65718421
79Abnormality of mucopolysaccharide metabolism (HP:0011020)2.65665424
80Abnormality of polysaccharide metabolism (HP:0011012)2.65665424
81Abnormality of glycosaminoglycan metabolism (HP:0004371)2.65665424
82Abnormal hemoglobin (HP:0011902)2.65634484
83Abnormality of complement system (HP:0005339)2.65520923
84Keratoconjunctivitis (HP:0001096)2.65046136
85Purpura (HP:0000979)2.64249595
86Heart block (HP:0012722)2.63713372
87Abnormality of the calf musculature (HP:0001430)2.62579222
88Exercise-induced muscle cramps (HP:0003710)2.61714145
89Increased CSF lactate (HP:0002490)2.59671737
90Pulmonary infiltrates (HP:0002113)2.59513274
91Disinhibition (HP:0000734)2.59438219
92Hemoptysis (HP:0002105)2.58434309
93Urticaria (HP:0001025)2.57711657
94Abnormality of fatty-acid metabolism (HP:0004359)2.57083461
95Mucopolysacchariduria (HP:0008155)2.56402621
96Urinary glycosaminoglycan excretion (HP:0003541)2.56402621
97Increased purine levels (HP:0004368)2.56302900
98Hyperuricemia (HP:0002149)2.56302900
99Rhabdomyolysis (HP:0003201)2.55648765
100Late onset (HP:0003584)2.54654605
101Muscle hypertrophy of the lower extremities (HP:0008968)2.53950057
102Proximal tubulopathy (HP:0000114)2.52232693
103Asymmetric septal hypertrophy (HP:0001670)2.51578604
104Encephalitis (HP:0002383)2.49723140
105Cellulitis (HP:0100658)2.47751971
106Abnormal atrioventricular conduction (HP:0005150)2.47263099
107Generalized aminoaciduria (HP:0002909)2.46204135
108Acute necrotizing encephalopathy (HP:0006965)2.45766783
109Inflammation of the large intestine (HP:0002037)2.44619884
110Petechiae (HP:0000967)2.44351406
111Subaortic stenosis (HP:0001682)2.41706363
112Abnormality of the left ventricular outflow tract (HP:0011103)2.41706363
113Thin bony cortex (HP:0002753)2.41440914
114Abnormal delayed hypersensitivity skin test (HP:0002963)2.37558352
115Colitis (HP:0002583)2.37537642
116Axonal loss (HP:0003447)2.35901826
117Gastrointestinal inflammation (HP:0004386)2.35311053
118Abnormal pancreas size (HP:0012094)2.33798578
119Increased hepatocellular lipid droplets (HP:0006565)2.33643411
120Cerebral edema (HP:0002181)2.32054995
121Lactic acidosis (HP:0003128)2.31535659
122Increased connective tissue (HP:0009025)2.30706262
123Chronic mucocutaneous candidiasis (HP:0002728)2.29302685
124Recurrent cutaneous fungal infections (HP:0011370)2.29302685
125Hematochezia (HP:0002573)2.28707933
126Hyperactive renin-angiotensin system (HP:0000841)2.28621458
127Hyporeflexia of lower limbs (HP:0002600)2.28497147
128Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.27416552
129Abnormality of alanine metabolism (HP:0010916)2.27416552
130Hyperalaninemia (HP:0003348)2.27416552
131Respiratory failure (HP:0002878)2.22032801
132Interstitial pulmonary disease (HP:0006530)2.21377444
133Autoimmune thrombocytopenia (HP:0001973)2.20799269
134Pustule (HP:0200039)2.20788663
135Prolonged bleeding time (HP:0003010)2.20526464
136Biliary tract neoplasm (HP:0100574)2.20519443
137Abnormality of the vitamin B12 metabolism (HP:0004341)2.20381472
138Recurrent viral infections (HP:0004429)2.19977441
139Palmoplantar keratoderma (HP:0000982)2.18971438
140Neoplasm of the rectum (HP:0100743)2.18277103
141Abnormality of the nasal mucosa (HP:0000433)2.17572953
142Chest pain (HP:0100749)2.16642202
143Abnormal biliary tract morphology (HP:0012440)2.16426133
144Abnormality of purine metabolism (HP:0004352)2.15959004
145Lethargy (HP:0001254)2.15921662
146Atrioventricular block (HP:0001678)2.15544568
147Pulmonary embolism (HP:0002204)2.13951270
148Progressive macrocephaly (HP:0004481)2.12422177
149Metabolic acidosis (HP:0001942)2.11352464
150Abnormality of glycine metabolism (HP:0010895)2.11327760
151Abnormality of serine family amino acid metabolism (HP:0010894)2.11327760
152Abnormality of glutamine family amino acid metabolism (HP:0010902)2.09938332
153Osteomyelitis (HP:0002754)2.06712480
154Neonatal death (HP:0003811)2.06080523
155Arterial thrombosis (HP:0004420)2.05914739
156Esophageal varix (HP:0002040)2.05858026
157Ragged-red muscle fibers (HP:0003200)2.05779913
158Episodic fever (HP:0001954)2.05356516
159Nephritis (HP:0000123)2.05137242
160Abnormality of vitamin B metabolism (HP:0004340)2.04115833
161Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.03375732
162Hemorrhage of the eye (HP:0011885)2.02277742
163Fragile skin (HP:0001030)2.02127639
164Increased serum ferritin (HP:0003281)2.01751794
165Neoplasm of the small intestine (HP:0100833)2.01086319
166Hepatosplenomegaly (HP:0001433)2.00758492
167Increased serum lactate (HP:0002151)2.00356418
168Nausea (HP:0002018)1.98096718
169Epistaxis (HP:0000421)1.97976912
170Segmental peripheral demyelination/remyelination (HP:0003481)1.97417671
171Vertigo (HP:0002321)1.96850903
172Premature loss of primary teeth (HP:0006323)1.96745060
173Gingival bleeding (HP:0000225)1.96422325
174Leukocytosis (HP:0001974)1.95223822
175Exercise intolerance (HP:0003546)1.94316513
176Acne (HP:0001061)1.94044158
177Increased IgM level (HP:0003496)1.93825827
178Mutism (HP:0002300)1.93273755
179Dehydration (HP:0001944)1.92755162
180Nasal polyposis (HP:0100582)1.92694976
181Gastrointestinal stroma tumor (HP:0100723)1.92557097
182Restrictive lung disease (HP:0002091)1.92153605
183Polyneuropathy (HP:0001271)1.91659335
184Hyperinsulinemic hypoglycemia (HP:0000825)1.91294622
185Cavernous hemangioma (HP:0001048)1.90694013
186Malnutrition (HP:0004395)1.89951487
187Abnormality of iron homeostasis (HP:0011031)1.89539673
188Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.88726485
189Abnormality of the pleura (HP:0002103)1.87140860
190Male infertility (HP:0003251)1.86828252
191T lymphocytopenia (HP:0005403)1.83337079
192Neurofibrillary tangles (HP:0002185)1.81145416
193Neuronal loss in central nervous system (HP:0002529)1.80715147
194Myocardial infarction (HP:0001658)1.79810792
195Hypergammaglobulinemia (HP:0010702)1.79031296
196Anorexia (HP:0002039)1.77486675
197Pathologic fracture (HP:0002756)1.76852314
198Abnormality of T cell number (HP:0011839)1.76390163

Predicted kinase interactions (KEA)

RankGene SetZ-score
1LMTK27.37415368
2RIPK43.70839887
3FRK3.43608909
4BCKDK3.10486596
5PRPF4B3.04649955
6BLK3.01485911
7MAP4K12.97705426
8WNK42.88020080
9PKN22.86529784
10MYLK2.78924102
11TIE12.73617489
12TYK22.61227771
13TTN2.45239204
14STK392.29718825
15IRAK42.28749569
16MAP2K32.22446501
17CSK2.20998238
18PRKG22.10096502
19PDK32.07945800
20PDK42.07945800
21RIPK12.06990954
22MST1R1.98424859
23STK38L1.96898882
24TRIB31.96646434
25MAP2K21.93962663
26ZAP701.93880656
27TAOK31.93253056
28MAP3K141.87758312
29DMPK1.84247738
30NUAK11.75630434
31FES1.73903207
32NME11.72460142
33PIK3CA1.71021918
34LATS11.70624439
35TAOK21.59012970
36EPHB21.53590950
37FGR1.52895101
38MAP2K61.51277032
39PDK21.48816192
40PHKG11.47889764
41PHKG21.47889764
42TNK21.47221707
43KDR1.44927281
44PTK61.40481262
45MAP3K131.39003931
46IKBKE1.38371692
47JAK31.38214297
48JAK11.37544554
49SIK11.35473291
50BTK1.32530215
51CSF1R1.26289734
52MATK1.25202736
53HCK1.24297287
54SYK1.22305633
55GRK61.22103324
56JAK21.17501875
57OBSCN1.16550783
58EPHA21.13491347
59TXK1.12714695
60DDR21.11357804
61ERN11.06366283
62NEK11.05874523
63LYN1.03189683
64STK241.02990881
65IKBKB1.02481708
66IRAK11.02449781
67MST41.01636672
68IRAK30.99302527
69PDK10.96852361
70TGFBR20.96430124
71MARK20.96235809
72IRAK20.95632226
73MAP3K110.95497090
74MAP3K50.94819061
75OXSR10.94201185
76LCK0.88069068
77PBK0.88018612
78PRKAA20.87251609
79ACVR1B0.84569377
80AKT30.82593965
81SIK30.81911370
82MAP3K30.81558419
83MAPK120.81248058
84MARK30.81036803
85ITK0.81002755
86PAK30.80701333
87SMG10.80398472
88EPHA30.80100422
89ICK0.79851210
90NME20.78809099
91PRKD20.78506753
92ERBB20.78307490
93KSR20.78281878
94MAPK70.77420320
95TTK0.75910834
96CAMK2D0.73569020
97BMPR20.73473355
98ILK0.72868377
99MAPK150.72534012
100KIT0.72233771
101INSRR0.68580134
102ROCK10.68498654
103PRKAA10.68056778
104PRKD10.67035683
105RPS6KL10.66128854
106RPS6KC10.66128854
107TESK20.65250574
108PTK20.64548879
109STK40.62655984
110YES10.62152398
111MUSK0.61845728
112CDC42BPA0.61747428
113FER0.61605766
114NEK90.60590293
115HIPK20.59108282
116MAP2K10.58976981
117PAK40.58767406
118STK100.58688917
119MET0.58424345
120LRRK20.58197130
121MAP3K60.57149994
122MAPKAPK30.56718065
123MAP3K70.54492564
124GRK10.54411793
125CAMK1D0.53082092
126RPS6KA60.52476248
127NLK0.52404536
128RPS6KA20.52038975
129FYN0.50824863
130CHUK0.49273342
131AURKB0.48963013
132WNK10.48090611
133FGFR30.47730401
134TRPM70.47395179
135STK380.47270136
136DYRK1B0.47189293
137TEC0.47066588
138FLT30.46481591
139PDGFRA0.46124649
140TGFBR10.45605203
141MELK0.45565055
142MAP3K20.45455249
143CAMKK20.45209294
144SGK30.44807087
145PIM10.44395940
146EPHB10.43507880
147PINK10.42752419
148MAP3K10.40485566
149RET0.40207631
150MAPK110.39358423
151MOS0.39180912
152RPS6KB20.39091698
153MAPK40.38742577
154FGFR40.38021890
155MAP3K100.37519528
156GRK70.36121046
157TBK10.36104135
158PRKD30.29224316
159DAPK20.28109906
160EIF2AK10.27396363
161STK30.26946206
162PDPK10.26404078
163PRKACB0.26150556
164CAMK2G0.26003678
165PDGFRB0.25855790
166PRKCI0.24096815
167PRKACG0.23971162
168CAMK40.23954281
169MAP3K80.22206382
170EEF2K0.21652052
171RPS6KA10.19613555
172PIK3CG0.19158700
173TAOK10.19082183

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000204.36685420
2Fat digestion and absorption_Homo sapiens_hsa049753.21008173
3Staphylococcus aureus infection_Homo sapiens_hsa051503.11476925
4Fatty acid degradation_Homo sapiens_hsa000713.11003100
5Propanoate metabolism_Homo sapiens_hsa006403.02514469
6Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.93874458
72-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.88522399
8Oxidative phosphorylation_Homo sapiens_hsa001902.75242136
9Leishmaniasis_Homo sapiens_hsa051402.70075260
10Osteoclast differentiation_Homo sapiens_hsa043802.68641257
11Parkinsons disease_Homo sapiens_hsa050122.66244256
12Maturity onset diabetes of the young_Homo sapiens_hsa049502.63402136
13Autoimmune thyroid disease_Homo sapiens_hsa053202.50002103
14Cardiac muscle contraction_Homo sapiens_hsa042602.43485038
15Allograft rejection_Homo sapiens_hsa053302.41818917
16* Pancreatic secretion_Homo sapiens_hsa049722.36698965
17Graft-versus-host disease_Homo sapiens_hsa053322.26710210
18Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.14282985
19* Protein digestion and absorption_Homo sapiens_hsa049742.05286549
20Pyruvate metabolism_Homo sapiens_hsa006202.04109643
21Carbon metabolism_Homo sapiens_hsa012002.03474970
22Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.01704511
23Alzheimers disease_Homo sapiens_hsa050102.00428452
24Tuberculosis_Homo sapiens_hsa051521.98293354
25Asthma_Homo sapiens_hsa053101.93686634
26Tryptophan metabolism_Homo sapiens_hsa003801.90830797
27Toll-like receptor signaling pathway_Homo sapiens_hsa046201.89880283
28Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.86553440
29Intestinal immune network for IgA production_Homo sapiens_hsa046721.79698061
30Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.79447560
31Lysosome_Homo sapiens_hsa041421.70642627
32Huntingtons disease_Homo sapiens_hsa050161.70306863
33Type I diabetes mellitus_Homo sapiens_hsa049401.67047472
34B cell receptor signaling pathway_Homo sapiens_hsa046621.67008644
35Sulfur metabolism_Homo sapiens_hsa009201.65905771
36Fatty acid metabolism_Homo sapiens_hsa012121.64738199
37Malaria_Homo sapiens_hsa051441.61913106
38Pertussis_Homo sapiens_hsa051331.60846352
39NF-kappa B signaling pathway_Homo sapiens_hsa040641.59169987
40Butanoate metabolism_Homo sapiens_hsa006501.56636169
41Hematopoietic cell lineage_Homo sapiens_hsa046401.54817147
42Toxoplasmosis_Homo sapiens_hsa051451.54560792
43Antigen processing and presentation_Homo sapiens_hsa046121.50563484
44Starch and sucrose metabolism_Homo sapiens_hsa005001.49737499
45Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.48480055
46Arginine and proline metabolism_Homo sapiens_hsa003301.47498852
47NOD-like receptor signaling pathway_Homo sapiens_hsa046211.47057596
48Dilated cardiomyopathy_Homo sapiens_hsa054141.46134454
49Folate biosynthesis_Homo sapiens_hsa007901.45967932
50Rheumatoid arthritis_Homo sapiens_hsa053231.44907231
51Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.44863562
52Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.44232204
53Pentose and glucuronate interconversions_Homo sapiens_hsa000401.41954048
54Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.41910922
55TNF signaling pathway_Homo sapiens_hsa046681.41332312
56beta-Alanine metabolism_Homo sapiens_hsa004101.40056968
57Glycerolipid metabolism_Homo sapiens_hsa005611.39484989
58Glycosaminoglycan degradation_Homo sapiens_hsa005311.37120411
59Vitamin digestion and absorption_Homo sapiens_hsa049771.37017715
60Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.34776234
61Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.34385633
62Phagosome_Homo sapiens_hsa041451.31086602
63Legionellosis_Homo sapiens_hsa051341.29053470
64Acute myeloid leukemia_Homo sapiens_hsa052211.27925314
65Nitrogen metabolism_Homo sapiens_hsa009101.27143867
66Histidine metabolism_Homo sapiens_hsa003401.26338340
67Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.26288464
68Mineral absorption_Homo sapiens_hsa049781.25219417
69Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.24914449
70Chemokine signaling pathway_Homo sapiens_hsa040621.24436710
71Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.23863060
72Glutathione metabolism_Homo sapiens_hsa004801.15877179
73Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.11924807
74Bile secretion_Homo sapiens_hsa049761.11448874
75RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.10733696
76Salmonella infection_Homo sapiens_hsa051321.09921277
77Primary immunodeficiency_Homo sapiens_hsa053401.09915638
78Arginine biosynthesis_Homo sapiens_hsa002201.08988323
79Measles_Homo sapiens_hsa051621.07815056
80Cyanoamino acid metabolism_Homo sapiens_hsa004601.07582179
81African trypanosomiasis_Homo sapiens_hsa051431.07551604
82T cell receptor signaling pathway_Homo sapiens_hsa046601.07343434
83Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.05602900
84Fructose and mannose metabolism_Homo sapiens_hsa000511.05180346
85Herpes simplex infection_Homo sapiens_hsa051681.00015824
86Jak-STAT signaling pathway_Homo sapiens_hsa046300.98728003
87Renin-angiotensin system_Homo sapiens_hsa046140.95612491
88Ribosome_Homo sapiens_hsa030100.95476833
89Lysine degradation_Homo sapiens_hsa003100.94382348
90Tight junction_Homo sapiens_hsa045300.93213258
91Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.88889515
92PPAR signaling pathway_Homo sapiens_hsa033200.88245158
93Amoebiasis_Homo sapiens_hsa051460.87507853
94Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.86511381
95Galactose metabolism_Homo sapiens_hsa000520.85654248
96Fatty acid elongation_Homo sapiens_hsa000620.85413376
97Peroxisome_Homo sapiens_hsa041460.85210962
98Biosynthesis of amino acids_Homo sapiens_hsa012300.84380321
99Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.83707654
100Hepatitis B_Homo sapiens_hsa051610.82876662
101Prion diseases_Homo sapiens_hsa050200.81053386
102Complement and coagulation cascades_Homo sapiens_hsa046100.79132627
103Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.78948092
104Carbohydrate digestion and absorption_Homo sapiens_hsa049730.78926825
105Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.78525764
106Apoptosis_Homo sapiens_hsa042100.78086940
107Adipocytokine signaling pathway_Homo sapiens_hsa049200.77610238
108Prolactin signaling pathway_Homo sapiens_hsa049170.76656387
109AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.75353729
110Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.74483910
111Platelet activation_Homo sapiens_hsa046110.73898413
112Other glycan degradation_Homo sapiens_hsa005110.71130650
113alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.70633605
114VEGF signaling pathway_Homo sapiens_hsa043700.70481197
115Shigellosis_Homo sapiens_hsa051310.66676030
116Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.66473498
117Pentose phosphate pathway_Homo sapiens_hsa000300.65525717
118Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.65366891
119Leukocyte transendothelial migration_Homo sapiens_hsa046700.61753509
120Chronic myeloid leukemia_Homo sapiens_hsa052200.60375320
121Sphingolipid signaling pathway_Homo sapiens_hsa040710.60108921
122Phospholipase D signaling pathway_Homo sapiens_hsa040720.59283529
123Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.58353546
124Arachidonic acid metabolism_Homo sapiens_hsa005900.57630208
125Endocytosis_Homo sapiens_hsa041440.56222268
126Neurotrophin signaling pathway_Homo sapiens_hsa047220.55990900
127Pancreatic cancer_Homo sapiens_hsa052120.55637662
128Viral myocarditis_Homo sapiens_hsa054160.55524355
129Metabolic pathways_Homo sapiens_hsa011000.55445687
130Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.54941633
131Non-small cell lung cancer_Homo sapiens_hsa052230.54488364
132GnRH signaling pathway_Homo sapiens_hsa049120.54301194
133Ovarian steroidogenesis_Homo sapiens_hsa049130.53488447
134Adherens junction_Homo sapiens_hsa045200.53014814
135Renal cell carcinoma_Homo sapiens_hsa052110.51127685
136Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.50545767
137Linoleic acid metabolism_Homo sapiens_hsa005910.50337983
138ECM-receptor interaction_Homo sapiens_hsa045120.49563254
139Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.48133260
140Insulin resistance_Homo sapiens_hsa049310.44597992
141Thyroid hormone synthesis_Homo sapiens_hsa049180.44451444
142Choline metabolism in cancer_Homo sapiens_hsa052310.42502169
143Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.41092223
144Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.40545012
145Glycerophospholipid metabolism_Homo sapiens_hsa005640.39960910
146Phosphatidylinositol signaling system_Homo sapiens_hsa040700.39184139
147FoxO signaling pathway_Homo sapiens_hsa040680.38560814
148Type II diabetes mellitus_Homo sapiens_hsa049300.37893385
149ABC transporters_Homo sapiens_hsa020100.36510469
150Aldosterone synthesis and secretion_Homo sapiens_hsa049250.36053417
151Collecting duct acid secretion_Homo sapiens_hsa049660.35522088
152Endometrial cancer_Homo sapiens_hsa052130.35187339
153Chemical carcinogenesis_Homo sapiens_hsa052040.35137194
154Sphingolipid metabolism_Homo sapiens_hsa006000.34457705
155Epstein-Barr virus infection_Homo sapiens_hsa051690.34043271
156Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.33626120
157HTLV-I infection_Homo sapiens_hsa051660.33605408
158Insulin secretion_Homo sapiens_hsa049110.33358356
159Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.32238576
160Selenocompound metabolism_Homo sapiens_hsa004500.31730852
161Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.30945378
162* Gastric acid secretion_Homo sapiens_hsa049710.30592846
163Bladder cancer_Homo sapiens_hsa052190.30561916
164Sulfur relay system_Homo sapiens_hsa041220.29771510
165* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.29570652
166Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.29020175
167Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.25434276
168Retinol metabolism_Homo sapiens_hsa008300.24215812
169Phenylalanine metabolism_Homo sapiens_hsa003600.22068525
170cGMP-PKG signaling pathway_Homo sapiens_hsa040220.21342933
171Focal adhesion_Homo sapiens_hsa045100.19344310
172AMPK signaling pathway_Homo sapiens_hsa041520.19048450
173Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.16626397
174Hepatitis C_Homo sapiens_hsa051600.14178605
175HIF-1 signaling pathway_Homo sapiens_hsa040660.13323708
176Protein export_Homo sapiens_hsa030600.12943410
177Influenza A_Homo sapiens_hsa051640.12483535
178Cysteine and methionine metabolism_Homo sapiens_hsa002700.12382373
179Glucagon signaling pathway_Homo sapiens_hsa049220.11700090
180Notch signaling pathway_Homo sapiens_hsa043300.11347868
181Small cell lung cancer_Homo sapiens_hsa052220.10363159

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