ABCA9

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 is a member of the superfamily of ATP-binding cassette (ABC) transporters and the encoded protein contains two transmembrane domains and two nucleotide binding folds. ABC proteins transport various molecules across extra- and intracellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, and White). This gene is a member of the ABC1 subfamily and is clustered with four other ABC1 family members on chromosome 17q24. Transcriptional expression of this gene is induced during monocyte differentiation into macrophages and is suppressed by cholesterol import. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1microglial cell activation (GO:0001774)7.04509354
2negative regulation of granulocyte differentiation (GO:0030853)5.54408269
3positive regulation of chemokine secretion (GO:0090197)5.44490683
4macrophage activation involved in immune response (GO:0002281)5.34565266
5regulation of interferon-beta biosynthetic process (GO:0045357)5.33945612
6modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.23019217
7positive regulation by organism of defense response of other organism involved in symbiotic interact5.23019217
8modulation by symbiont of host immune response (GO:0052553)5.23019217
9positive regulation by symbiont of host defense response (GO:0052509)5.23019217
10modulation by symbiont of host defense response (GO:0052031)5.23019217
11modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.23019217
12antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.21257068
13G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)4.80937659
14keratan sulfate catabolic process (GO:0042340)4.77251843
15indole-containing compound catabolic process (GO:0042436)4.31257733
16indolalkylamine catabolic process (GO:0046218)4.31257733
17tryptophan catabolic process (GO:0006569)4.31257733
18macrophage activation (GO:0042116)4.28644012
19regulation of macrophage chemotaxis (GO:0010758)4.21965322
20indolalkylamine metabolic process (GO:0006586)4.13289749
21regulation of chemokine secretion (GO:0090196)3.94665175
22behavioral response to nicotine (GO:0035095)3.90777781
23apoptotic cell clearance (GO:0043277)3.88610221
24kynurenine metabolic process (GO:0070189)3.85603402
25complement activation, alternative pathway (GO:0006957)3.85157105
26pathway-restricted SMAD protein phosphorylation (GO:0060389)3.83072957
27negative regulation of cytosolic calcium ion concentration (GO:0051481)3.79821496
28response to cholesterol (GO:0070723)3.77599389
29tryptophan metabolic process (GO:0006568)3.73198998
30purinergic nucleotide receptor signaling pathway (GO:0035590)3.71511911
31cellular extravasation (GO:0045123)3.70961002
32mannose metabolic process (GO:0006013)3.67402198
33detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.63718602
34phagocytosis, engulfment (GO:0006911)3.63593757
35chondroitin sulfate catabolic process (GO:0030207)3.57977923
36detection of light stimulus involved in sensory perception (GO:0050962)3.55865391
37detection of light stimulus involved in visual perception (GO:0050908)3.55865391
38cellular ketone body metabolic process (GO:0046950)3.52000772
39response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.39097152
40response to host immune response (GO:0052572)3.39097152
41response to host (GO:0075136)3.35705492
42response to host defenses (GO:0052200)3.35705492
43response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.35705492
44I-kappaB phosphorylation (GO:0007252)3.30392782
45cilium or flagellum-dependent cell motility (GO:0001539)3.30369035
46monocyte differentiation (GO:0030224)3.27266701
47positive regulation of interferon-alpha production (GO:0032727)3.24911277
48fucose catabolic process (GO:0019317)3.23295027
49L-fucose metabolic process (GO:0042354)3.23295027
50L-fucose catabolic process (GO:0042355)3.23295027
51indole-containing compound metabolic process (GO:0042430)3.19610499
52neuronal action potential (GO:0019228)3.19549123
53response to sterol (GO:0036314)3.19201203
54G-protein coupled purinergic receptor signaling pathway (GO:0035588)3.17845503
55G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.17753269
56behavioral response to ethanol (GO:0048149)3.16573564
57drug catabolic process (GO:0042737)3.14086571
58positive regulation of phosphoprotein phosphatase activity (GO:0032516)3.13896353
59gamma-aminobutyric acid transport (GO:0015812)3.13542470
60ketone body metabolic process (GO:1902224)3.12868427
61germ cell migration (GO:0008354)3.09819322
62positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.09576794
63regulation of B cell receptor signaling pathway (GO:0050855)3.04623113
64hyaluronan catabolic process (GO:0030214)3.03073825
65complement activation (GO:0006956)3.02638289
66negative regulation of bone resorption (GO:0045779)3.01526699
67regulation of interferon-alpha production (GO:0032647)3.01162678
68positive regulation of smooth muscle cell migration (GO:0014911)3.01025204
69membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.99466824
70interkinetic nuclear migration (GO:0022027)2.98945318
71cAMP catabolic process (GO:0006198)2.97829463
72reflex (GO:0060004)2.96928182
73neural tube formation (GO:0001841)2.95937296
74regulation of complement activation (GO:0030449)2.94612224
75positive regulation of B cell differentiation (GO:0045579)2.94164937
76positive regulation of SMAD protein import into nucleus (GO:0060391)2.93695711
77regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.91924632
78positive regulation of cellular amide metabolic process (GO:0034250)2.91599608
79regulation of hippo signaling (GO:0035330)2.91508842
80regulation of sarcomere organization (GO:0060297)2.90838985
81exogenous drug catabolic process (GO:0042738)2.90395843
82purinergic receptor signaling pathway (GO:0035587)2.90156100
83benzene-containing compound metabolic process (GO:0042537)2.88731331
84germinal center formation (GO:0002467)2.88667756
85primary amino compound metabolic process (GO:1901160)2.88088753
86membrane depolarization during action potential (GO:0086010)2.86881556
87cyclooxygenase pathway (GO:0019371)2.86288433
88oxidative demethylation (GO:0070989)2.86194838
89cellular biogenic amine catabolic process (GO:0042402)2.84546346
90amine catabolic process (GO:0009310)2.84546346
91cyclic nucleotide catabolic process (GO:0009214)2.83934808
92serotonin metabolic process (GO:0042428)2.83046060
93regulation of mononuclear cell migration (GO:0071675)2.81469506
94negative regulation of tissue remodeling (GO:0034104)2.81382918
95photoreceptor cell maintenance (GO:0045494)2.79954568
96pinocytosis (GO:0006907)2.78464384
97negative regulation of systemic arterial blood pressure (GO:0003085)2.78120096
98auditory receptor cell stereocilium organization (GO:0060088)2.77383425
99epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.74968215
100tachykinin receptor signaling pathway (GO:0007217)2.73839708
101import into cell (GO:0098657)2.73767376
102dopamine transport (GO:0015872)2.73067552
103inner ear receptor stereocilium organization (GO:0060122)2.70662175
104regulation of protein activation cascade (GO:2000257)2.70605954
105axoneme assembly (GO:0035082)2.70486132
106complement activation, classical pathway (GO:0006958)2.70342986
107myeloid cell activation involved in immune response (GO:0002275)2.69296971
108regulation of action potential (GO:0098900)2.68082551
109response to pheromone (GO:0019236)2.67998423
110neutrophil activation involved in immune response (GO:0002283)2.67819344
111regulation of SMAD protein import into nucleus (GO:0060390)2.66344556
112positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.66204865
113aromatic amino acid family catabolic process (GO:0009074)2.65979188
114fatty acid transmembrane transport (GO:1902001)2.64884952
115positive regulation of antigen processing and presentation (GO:0002579)2.64334013
116retina vasculature morphogenesis in camera-type eye (GO:0061299)2.64244425
117basement membrane organization (GO:0071711)2.63405348
118negative regulation of interleukin-6 production (GO:0032715)2.63022080
119negative regulation of translation, ncRNA-mediated (GO:0040033)2.62700113
120regulation of translation, ncRNA-mediated (GO:0045974)2.62700113
121negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.62700113
122regulation of granulocyte differentiation (GO:0030852)2.61930144
123signal peptide processing (GO:0006465)2.58777339
124positive regulation of cholesterol efflux (GO:0010875)2.58744028
125sulfation (GO:0051923)2.57680806
126cortical actin cytoskeleton organization (GO:0030866)2.56274513
127negative regulation of interleukin-12 production (GO:0032695)2.55620391
128establishment of protein localization to Golgi (GO:0072600)2.55264197
129negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.55177381
130negative regulation of cell killing (GO:0031342)2.55177381
131ruffle organization (GO:0031529)2.52801377
132regulation of skeletal muscle contraction (GO:0014819)2.52770825
133glycosphingolipid catabolic process (GO:0046479)2.52114750
134regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.51951125
135negative regulation of mast cell activation (GO:0033004)2.51224680
136membrane invagination (GO:0010324)2.51132003
137oligosaccharide catabolic process (GO:0009313)2.50775511
138negative regulation of bone remodeling (GO:0046851)2.49404957
139coenzyme catabolic process (GO:0009109)2.46099145
140retinal cone cell development (GO:0046549)2.45274452
141regulation of glucokinase activity (GO:0033131)2.45246187
142regulation of hexokinase activity (GO:1903299)2.45246187
143cortical cytoskeleton organization (GO:0030865)2.44832950
144regulation of sequestering of triglyceride (GO:0010889)2.44623648
145response to peptidoglycan (GO:0032494)2.44587640
146NAD biosynthetic process (GO:0009435)2.44512489
147detection of molecule of bacterial origin (GO:0032490)2.41981131
148regulation of T cell tolerance induction (GO:0002664)2.41187572
149negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.40928213
150positive regulation of macrophage cytokine production (GO:0060907)2.38019841
151response to laminar fluid shear stress (GO:0034616)2.37960267
152endothelial cell chemotaxis (GO:0035767)2.37510644
153collagen fibril organization (GO:0030199)2.37223730
154response to fluid shear stress (GO:0034405)2.36406306
155myofibril assembly (GO:0030239)2.35736058
156iron ion import (GO:0097286)2.35553608
157cellular response to sterol (GO:0036315)2.35521468
158aromatic amino acid family metabolic process (GO:0009072)2.34581557
159startle response (GO:0001964)2.34329313
160positive regulation of phagocytosis (GO:0050766)2.34199148
161cornea development in camera-type eye (GO:0061303)2.33478725
162piRNA metabolic process (GO:0034587)2.32744703
163phosphatidylinositol acyl-chain remodeling (GO:0036149)2.32172452
164cellular response to interleukin-6 (GO:0071354)2.31949744
165lysosome organization (GO:0007040)2.31863607
166lytic vacuole organization (GO:0080171)2.31863607
167positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.31519852
168kidney morphogenesis (GO:0060993)2.31497760
169regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.31032624
170cilium morphogenesis (GO:0060271)2.30493386
171positive regulation of fatty acid oxidation (GO:0046321)2.29294345
172epithelial cilium movement (GO:0003351)2.29250020
173positive regulation of fatty acid transport (GO:2000193)2.29060680
174extracellular fibril organization (GO:0043206)2.28876968
175regulation of platelet activation (GO:0010543)2.28474688
176action potential (GO:0001508)2.28353676
177negative regulation of protein localization to cell surface (GO:2000009)2.27252135
178cilium movement (GO:0003341)2.27129482
179regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.26437995
180positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.25732999
181neuronal action potential propagation (GO:0019227)2.25660643
182cilium organization (GO:0044782)2.25570539
183negative regulation of smooth muscle cell migration (GO:0014912)2.25538916
184detection of mechanical stimulus involved in sensory perception (GO:0050974)2.25513634
185platelet dense granule organization (GO:0060155)2.25375326
186renal tubule morphogenesis (GO:0061333)2.24600193
187macrophage differentiation (GO:0030225)2.24299673
188limb development (GO:0060173)2.23520381
189appendage development (GO:0048736)2.23520381
190regulation of pigment cell differentiation (GO:0050932)2.22559987
191positive regulation of action potential (GO:0045760)2.22467822
192positive regulation of glycolytic process (GO:0045821)2.21394309
193nephron tubule morphogenesis (GO:0072078)2.20172022
194nephron epithelium morphogenesis (GO:0072088)2.20172022
195negative regulation of synaptic transmission, GABAergic (GO:0032229)2.20062718
196cilium assembly (GO:0042384)2.19452837
197protein polyglutamylation (GO:0018095)2.17527165
198positive regulation of developmental pigmentation (GO:0048087)2.16514622
199L-methionine biosynthetic process (GO:0071265)2.15511292

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human4.53353442
2IRF8_27001747_Chip-Seq_BMDM_Mouse3.54817625
3IRF8_21731497_ChIP-ChIP_J774_Mouse3.29257555
4EZH2_22144423_ChIP-Seq_EOC_Human3.27960095
5* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.03268878
6FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.99778622
7GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.97498863
8VDR_22108803_ChIP-Seq_LS180_Human2.91169787
9ZFP57_27257070_Chip-Seq_ESCs_Mouse2.57702929
10ZNF274_21170338_ChIP-Seq_K562_Hela2.54949474
11GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.47075513
12NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.47017472
13Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.42958685
14* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.31600026
15IRF8_22096565_ChIP-ChIP_GC-B_Human2.30069817
16IGF1R_20145208_ChIP-Seq_DFB_Human2.28754676
17GATA1_22025678_ChIP-Seq_K562_Human2.25495008
18* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.24589930
19EGR1_19374776_ChIP-ChIP_THP-1_Human2.20381437
20CTBP2_25329375_ChIP-Seq_LNCAP_Human2.17458510
21STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.17287653
22STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.13073371
23NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.00517527
24TAF15_26573619_Chip-Seq_HEK293_Human1.99770109
25FLI1_27457419_Chip-Seq_LIVER_Mouse1.98282861
26SCL_19346495_ChIP-Seq_HPC-7_Human1.97696315
27WT1_19549856_ChIP-ChIP_CCG9911_Human1.95243806
28ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.94246477
29P300_19829295_ChIP-Seq_ESCs_Human1.93471939
30PIAS1_25552417_ChIP-Seq_VCAP_Human1.91657931
31RUNX_20019798_ChIP-Seq_JUKART_Human1.87569951
32STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.86162432
33CTBP1_25329375_ChIP-Seq_LNCAP_Human1.84597738
34ER_23166858_ChIP-Seq_MCF-7_Human1.83869729
35VDR_24787735_ChIP-Seq_THP-1_Human1.83836358
36* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.82787664
37THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.79481720
38SMAD4_21799915_ChIP-Seq_A2780_Human1.78540332
39FUS_26573619_Chip-Seq_HEK293_Human1.77062356
40BCAT_22108803_ChIP-Seq_LS180_Human1.76729507
41* STAT3_23295773_ChIP-Seq_U87_Human1.75988483
42VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.74889566
43GATA2_21666600_ChIP-Seq_HMVEC_Human1.71816688
44TRIM28_21343339_ChIP-Seq_HEK293_Human1.69811856
45PCGF2_27294783_Chip-Seq_ESCs_Mouse1.66925497
46PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.66758650
47ESR1_21235772_ChIP-Seq_MCF-7_Human1.62411248
48PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.62310686
49SPI1_23127762_ChIP-Seq_K562_Human1.62085724
50UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.62020697
51TCF4_23295773_ChIP-Seq_U87_Human1.60409990
52RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.57941229
53EWS_26573619_Chip-Seq_HEK293_Human1.56783280
54AR_21572438_ChIP-Seq_LNCaP_Human1.55764462
55NR3C1_21868756_ChIP-Seq_MCF10A_Human1.55714717
56TP53_16413492_ChIP-PET_HCT116_Human1.53154127
57FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.52782998
58MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.51693865
59CBP_20019798_ChIP-Seq_JUKART_Human1.51039568
60IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.51039568
61SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.50763229
62* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.50486853
63AR_25329375_ChIP-Seq_VCAP_Human1.49630002
64POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.48656749
65TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.48656749
66* CJUN_26792858_Chip-Seq_BT549_Human1.48343335
67CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.45051584
68* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.44558851
69CDX2_19796622_ChIP-Seq_MESCs_Mouse1.44459840
70SMAD3_21741376_ChIP-Seq_EPCs_Human1.44060477
71MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.40625275
72PCGF2_27294783_Chip-Seq_NPCs_Mouse1.40005934
73TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.39805319
74SUZ12_27294783_Chip-Seq_NPCs_Mouse1.39191506
75SMAD_19615063_ChIP-ChIP_OVARY_Human1.37296186
76* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.36958677
77SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.36196166
78FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.36126079
79EZH2_27294783_Chip-Seq_NPCs_Mouse1.35694600
80LXR_22158963_ChIP-Seq_LIVER_Mouse1.34861462
81CLOCK_20551151_ChIP-Seq_293T_Human1.34582807
82SALL1_21062744_ChIP-ChIP_HESCs_Human1.34442665
83PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.34332228
84EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.33888198
85MYB_21317192_ChIP-Seq_ERMYB_Mouse1.31704850
86OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29663861
87DROSHA_22980978_ChIP-Seq_HELA_Human1.29404310
88ZNF217_24962896_ChIP-Seq_MCF-7_Human1.27726285
89TCF4_22108803_ChIP-Seq_LS180_Human1.26727262
90* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.26079140
91IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.25734807
92BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.25631566
93CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.25591175
94RUNX2_22187159_ChIP-Seq_PCA_Human1.25497765
95NFE2_27457419_Chip-Seq_LIVER_Mouse1.25079351
96SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.24915102
97NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.23507319
98NANOG_19829295_ChIP-Seq_ESCs_Human1.23303175
99SOX2_19829295_ChIP-Seq_ESCs_Human1.23303175
100IKZF1_21737484_ChIP-ChIP_HCT116_Human1.22743318
101CBX2_27304074_Chip-Seq_ESCs_Mouse1.22236121
102* EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.21825988
103CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.21477078
104SMAD4_21741376_ChIP-Seq_EPCs_Human1.19079127
105KLF5_20875108_ChIP-Seq_MESCs_Mouse1.18852851
106FLI1_21867929_ChIP-Seq_TH2_Mouse1.18755045
107PRDM14_20953172_ChIP-Seq_ESCs_Human1.18527606
108NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.17924305
109TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.17810076
110BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.16560170
111* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.16361333
112NANOG_18555785_Chip-Seq_ESCs_Mouse1.16219048
113EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.16011746
114CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.15784229
115ESR2_21235772_ChIP-Seq_MCF-7_Human1.14703480
116EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.13691441
117SOX2_21211035_ChIP-Seq_LN229_Gbm1.13132336
118CDX2_22108803_ChIP-Seq_LS180_Human1.12230115
119MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.11994785
120TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.10963702
121PPAR_26484153_Chip-Seq_NCI-H1993_Human1.10597799
122CRX_20693478_ChIP-Seq_RETINA_Mouse1.10476513
123TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.10368401
124KDM2B_26808549_Chip-Seq_SUP-B15_Human1.09923009
125* PU_27001747_Chip-Seq_BMDM_Mouse1.09267124
126RARG_19884340_ChIP-ChIP_MEFs_Mouse1.08520485
127REST_21632747_ChIP-Seq_MESCs_Mouse1.08412517
128LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.08382744
129KDM2B_26808549_Chip-Seq_REH_Human1.08277512
130P53_22387025_ChIP-Seq_ESCs_Mouse1.05075990
131BMI1_23680149_ChIP-Seq_NPCS_Mouse1.04072510
132TP53_22573176_ChIP-Seq_HFKS_Human1.03638552
133RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.03517734
134EGR1_23403033_ChIP-Seq_LIVER_Mouse1.03154555
135* GATA2_19941826_ChIP-Seq_K562_Human1.02835131
136OCT4_21477851_ChIP-Seq_ESCs_Mouse1.02103073
137PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.01974657
138FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.00795754
139E2F1_18555785_Chip-Seq_ESCs_Mouse1.00511527
140TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.00381421
141FOXA1_21572438_ChIP-Seq_LNCaP_Human0.99990726
142GATA1_19941826_ChIP-Seq_K562_Human0.99644657
143EED_16625203_ChIP-ChIP_MESCs_Mouse0.99377663
144NFIB_24661679_ChIP-Seq_LUNG_Mouse0.99077227
145VDR_24763502_ChIP-Seq_THP-1_Human0.98401632
146EP300_21415370_ChIP-Seq_HL-1_Mouse0.98375550
147RXR_22108803_ChIP-Seq_LS180_Human0.98262032
148JARID2_20064375_ChIP-Seq_MESCs_Mouse0.98130406
149NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.96964245
150NRF2_20460467_ChIP-Seq_MEFs_Mouse0.96964245
151* GBX2_23144817_ChIP-Seq_PC3_Human0.95252321
152ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.94850434
153WT1_25993318_ChIP-Seq_PODOCYTE_Human0.93783909
154CDX2_20551321_ChIP-Seq_CACO-2_Human0.93765843
155SALL4_18804426_ChIP-ChIP_XEN_Mouse0.93761813
156PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.91608154
157SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.91396572
158SOX9_24532713_ChIP-Seq_HFSC_Mouse0.91313256
159NR3C1_23031785_ChIP-Seq_PC12_Mouse0.89794787
160TCF7_22412390_ChIP-Seq_EML_Mouse0.88089964
161FOXA2_19822575_ChIP-Seq_HepG2_Human0.87905231
162* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86111082
163ESR1_20079471_ChIP-ChIP_T-47D_Human0.86045072
164SMAD3_21741376_ChIP-Seq_HESCs_Human0.85683726
165RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.85635545
166AHR_22903824_ChIP-Seq_MCF-7_Human0.83938387
167SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.83608602
168ARNT_22903824_ChIP-Seq_MCF-7_Human0.83489343
169TP53_18474530_ChIP-ChIP_U2OS_Human0.82170079
170RXR_22158963_ChIP-Seq_LIVER_Mouse0.81740276
171TBX20_22080862_ChIP-Seq_HEART_Mouse0.81266071
172TBX20_22328084_ChIP-Seq_HEART_Mouse0.81266071
173BRD4_25478319_ChIP-Seq_HGPS_Human0.80819139
174SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.80008822
175GATA1_19941827_ChIP-Seq_MEL_Mouse0.79698736
176E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.79528567
177STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.78991623
178JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.78464547
179SOX2_20726797_ChIP-Seq_SW620_Human0.76809730
180SPI1_23547873_ChIP-Seq_NB4_Human0.75197301
181TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.75037210
182AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.74910726

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen5.59363158
2MP0003191_abnormal_cellular_cholesterol4.93588815
3MP0005058_abnormal_lysosome_morphology3.81593261
4MP0003646_muscle_fatigue3.71397999
5MP0006082_CNS_inflammation3.17640864
6MP0003195_calcinosis3.15045596
7MP0005275_abnormal_skin_tensile3.04744725
8MP0002837_dystrophic_cardiac_calcinosis2.92540199
9MP0005503_abnormal_tendon_morphology2.87170074
10MP0003690_abnormal_glial_cell2.38674153
11MP0003172_abnormal_lysosome_physiology2.36381801
12MP0001835_abnormal_antigen_presentation2.35637768
13MP0001968_abnormal_touch/_nociception2.29042238
14MP0005464_abnormal_platelet_physiology2.28215644
15MP0005551_abnormal_eye_electrophysiolog2.27772898
16MP0002419_abnormal_innate_immunity2.27266295
17MP0005670_abnormal_white_adipose2.23427475
18MP0003279_aneurysm2.22269186
19MP0001501_abnormal_sleep_pattern2.22049789
20MP0009046_muscle_twitch2.21087028
21MP0001533_abnormal_skeleton_physiology2.14481668
22MP0003075_altered_response_to2.14425491
23MP0003436_decreased_susceptibility_to2.14090025
24MP0004145_abnormal_muscle_electrophysio2.11801305
25MP0009840_abnormal_foam_cell2.07900185
26MP0002876_abnormal_thyroid_physiology2.04244168
27MP0004215_abnormal_myocardial_fiber2.04166100
28MP0003045_fibrosis2.03281403
29MP0003724_increased_susceptibility_to2.02265614
30MP0000343_altered_response_to2.00031936
31MP0004084_abnormal_cardiac_muscle1.99000650
32MP0003303_peritoneal_inflammation1.98032350
33MP0003252_abnormal_bile_duct1.92025797
34MP0005671_abnormal_response_to1.91914158
35MP0010368_abnormal_lymphatic_system1.90126816
36MP0002148_abnormal_hypersensitivity_rea1.89286149
37MP0008004_abnormal_stomach_pH1.83116007
38MP0009745_abnormal_behavioral_response1.80702524
39MP0003136_yellow_coat_color1.77568028
40MP0002736_abnormal_nociception_after1.73235591
41MP0003300_gastrointestinal_ulcer1.71408157
42MP0003828_pulmonary_edema1.70744373
43MP0001851_eye_inflammation1.67997271
44MP0004043_abnormal_pH_regulation1.65296923
45MP0006276_abnormal_autonomic_nervous1.64673227
46MP0002638_abnormal_pupillary_reflex1.63956566
47MP0002272_abnormal_nervous_system1.60550833
48MP0002998_abnormal_bone_remodeling1.59925396
49MP0000767_abnormal_smooth_muscle1.54694177
50MP0005000_abnormal_immune_tolerance1.53469576
51MP0004272_abnormal_basement_membrane1.53450582
52MP0005646_abnormal_pituitary_gland1.53264131
53MP0001986_abnormal_taste_sensitivity1.52400311
54MP0002452_abnormal_antigen_presenting1.52336656
55MP0005171_absent_coat_pigmentation1.52071594
56MP0003566_abnormal_cell_adhesion1.51191272
57MP0008872_abnormal_physiological_respon1.49156508
58MP0000230_abnormal_systemic_arterial1.48615964
59MP0001486_abnormal_startle_reflex1.48319891
60MP0004036_abnormal_muscle_relaxation1.47703222
61MP0008775_abnormal_heart_ventricle1.47633544
62MP0005253_abnormal_eye_physiology1.45937939
63MP0003705_abnormal_hypodermis_morpholog1.43583251
64MP0002102_abnormal_ear_morphology1.42805195
65MP0005645_abnormal_hypothalamus_physiol1.42673107
66MP0010386_abnormal_urinary_bladder1.42194266
67MP0005386_behavior/neurological_phenoty1.41637488
68MP0004924_abnormal_behavior1.41637488
69MP0004142_abnormal_muscle_tone1.39884844
70MP0001485_abnormal_pinna_reflex1.39861653
71MP0005390_skeleton_phenotype1.38893893
72MP0000427_abnormal_hair_cycle1.35773988
73MP0002138_abnormal_hepatobiliary_system1.35066703
74MP0003950_abnormal_plasma_membrane1.34749015
75MP0002254_reproductive_system_inflammat1.33997252
76MP0001984_abnormal_olfaction1.33396194
77MP0002166_altered_tumor_susceptibility1.33238474
78MP0004510_myositis1.33057860
79MP0008875_abnormal_xenobiotic_pharmacok1.32394170
80MP0001800_abnormal_humoral_immune1.30812468
81MP0001915_intracranial_hemorrhage1.29877917
82MP0005166_decreased_susceptibility_to1.29680202
83MP0004883_abnormal_blood_vessel1.29581076
84MP0001790_abnormal_immune_system1.29374157
85MP0005387_immune_system_phenotype1.29374157
86MP0000372_irregular_coat_pigmentation1.29363525
87MP0002396_abnormal_hematopoietic_system1.29091974
88MP0002928_abnormal_bile_duct1.27643070
89MP0008877_abnormal_DNA_methylation1.26612842
90MP0001853_heart_inflammation1.25092563
91MP0004885_abnormal_endolymph1.24153596
92MP0005025_abnormal_response_to1.23797164
93MP0002723_abnormal_immune_serum1.23673854
94MP0002933_joint_inflammation1.23232636
95MP0004130_abnormal_muscle_cell1.22871724
96MP0002090_abnormal_vision1.22072730
97MP0004185_abnormal_adipocyte_glucose1.21062638
98MP0002572_abnormal_emotion/affect_behav1.21003354
99MP0005620_abnormal_muscle_contractility1.19714065
100MP0000249_abnormal_blood_vessel1.19432324
101MP0002067_abnormal_sensory_capabilities1.18750948
102MP0004085_abnormal_heartbeat1.17236098
103MP0005174_abnormal_tail_pigmentation1.16742662
104MP0005023_abnormal_wound_healing1.16720859
105MP0005666_abnormal_adipose_tissue1.16652674
106MP0001845_abnormal_inflammatory_respons1.16499620
107MP0002735_abnormal_chemical_nociception1.16491995
108MP0002064_seizures1.13137950
109MP0002557_abnormal_social/conspecific_i1.13027148
110MP0005257_abnormal_intraocular_pressure1.12239032
111MP0006072_abnormal_retinal_apoptosis1.11707591
112MP0000569_abnormal_digit_pigmentation1.11612238
113MP0001958_emphysema1.10825662
114MP0003137_abnormal_impulse_conducting1.10798561
115MP0001970_abnormal_pain_threshold1.09948299
116MP0001819_abnormal_immune_cell1.09174382
117MP0008469_abnormal_protein_level1.08418203
118MP0009780_abnormal_chondrocyte_physiolo1.08394652
119MP0010329_abnormal_lipoprotein_level1.07238135
120MP0002420_abnormal_adaptive_immunity1.07185650
121MP0002295_abnormal_pulmonary_circulatio1.05509514
122MP0000538_abnormal_urinary_bladder1.04348857
123MP0002733_abnormal_thermal_nociception1.03638528
124MP0000751_myopathy1.03000241
125MP0002108_abnormal_muscle_morphology1.02252520
126MP0005508_abnormal_skeleton_morphology1.00736090
127MP0005167_abnormal_blood-brain_barrier1.00670093
128MP0003011_delayed_dark_adaptation1.00034377
129MP0002060_abnormal_skin_morphology0.99143020
130MP0003635_abnormal_synaptic_transmissio0.98238517
131MP0003183_abnormal_peptide_metabolism0.97305062
132MP0004147_increased_porphyrin_level0.97088026
133MP0003880_abnormal_central_pattern0.92823474
134MP0000685_abnormal_immune_system0.92807426
135MP0000465_gastrointestinal_hemorrhage0.91736000
136MP0005165_increased_susceptibility_to0.91249588
137MP0003283_abnormal_digestive_organ0.91069336
138MP0000920_abnormal_myelination0.91030462
139MP0002405_respiratory_system_inflammati0.90988287
140MP0002006_tumorigenesis0.90471839
141MP0002063_abnormal_learning/memory/cond0.90228873
142MP0002168_other_aberrant_phenotype0.88106472
143MP0003633_abnormal_nervous_system0.87662131
144MP0001542_abnormal_bone_strength0.86814570
145MP0002160_abnormal_reproductive_system0.85484796
146MP0005164_abnormal_response_to0.85286576
147MP0005595_abnormal_vascular_smooth0.84194672
148MP0004484_altered_response_of0.83927740
149MP0002971_abnormal_brown_adipose0.83841881
150MP0005410_abnormal_fertilization0.83636348
151MP0002938_white_spotting0.82987181
152MP0000631_abnormal_neuroendocrine_gland0.80679401
153MP0004742_abnormal_vestibular_system0.80530614
154MP0006054_spinal_hemorrhage0.80348738
155MP0005448_abnormal_energy_balance0.80216693
156MP0005197_abnormal_uvea_morphology0.79760369
157MP0005266_abnormal_metabolism0.79399999
158MP0009384_cardiac_valve_regurgitation0.79191401
159MP0005369_muscle_phenotype0.78949764
160MP0000013_abnormal_adipose_tissue0.78442916
161MP0003448_altered_tumor_morphology0.78117908
162MP0000383_abnormal_hair_follicle0.78047142
163MP0009278_abnormal_bone_marrow0.77618852
164MP0000749_muscle_degeneration0.76385325
165MP0009763_increased_sensitivity_to0.76317209
166MP0003795_abnormal_bone_structure0.73932785
167MP0003091_abnormal_cell_migration0.73512052
168MP0002136_abnormal_kidney_physiology0.72651198
169MP0005195_abnormal_posterior_eye0.72008002
170MP0002734_abnormal_mechanical_nocicepti0.71727019
171MP0005332_abnormal_amino_acid0.71558003
172MP0001879_abnormal_lymphatic_vessel0.71150020
173MP0005389_reproductive_system_phenotype0.71070355
174MP0000716_abnormal_immune_system0.70953812
175MP0001661_extended_life_span0.70840633
176MP0001963_abnormal_hearing_physiology0.70637121
177MP0005085_abnormal_gallbladder_physiolo0.69082016
178MP0003879_abnormal_hair_cell0.69008856
179MP0002135_abnormal_kidney_morphology0.68142985
180MP0005375_adipose_tissue_phenotype0.67979437
181MP0001614_abnormal_blood_vessel0.67652320
182MP0000689_abnormal_spleen_morphology0.67447457
183MP0002128_abnormal_blood_circulation0.67017522
184MP0000609_abnormal_liver_physiology0.64823055

Predicted human phenotypes

RankGene SetZ-score
1Glomerulonephritis (HP:0000099)9.14698170
2Complement deficiency (HP:0004431)7.67471796
3Abnormality of complement system (HP:0005339)6.31759027
4Cerebral aneurysm (HP:0004944)5.74492963
5Arterial tortuosity (HP:0005116)5.71593310
6Vascular tortuosity (HP:0004948)5.15312601
7Nephritis (HP:0000123)5.12912928
8Aortic aneurysm (HP:0004942)4.55857847
9Hyperventilation (HP:0002883)4.48341615
10Pancreatic cysts (HP:0001737)4.35338764
11Aortic dissection (HP:0002647)4.33831604
12Abnormality of glycolipid metabolism (HP:0010969)4.10633707
13Abnormality of liposaccharide metabolism (HP:0010968)4.10633707
14Abnormality of glycosphingolipid metabolism (HP:0004343)4.10633707
15Dysostosis multiplex (HP:0000943)3.91635377
16Genetic anticipation (HP:0003743)3.91257848
17Abnormality of the renal cortex (HP:0011035)3.88169963
18Pancreatic fibrosis (HP:0100732)3.87651282
19Hematochezia (HP:0002573)3.87120513
20Retinal atrophy (HP:0001105)3.84925697
21True hermaphroditism (HP:0010459)3.67844375
22Increased cerebral lipofuscin (HP:0011813)3.67375523
23Gaze-evoked nystagmus (HP:0000640)3.66572605
24Striae distensae (HP:0001065)3.64928307
25Recurrent abscess formation (HP:0002722)3.63490532
26Congenital stationary night blindness (HP:0007642)3.55061060
27Nephronophthisis (HP:0000090)3.54184639
28Recurrent bacterial skin infections (HP:0005406)3.52963368
29Disproportionate tall stature (HP:0001519)3.51796485
30Increased neuronal autofluorescent lipopigment (HP:0002074)3.51512077
31Progressive cerebellar ataxia (HP:0002073)3.49459112
32Attenuation of retinal blood vessels (HP:0007843)3.46761360
33Abnormality of midbrain morphology (HP:0002418)3.44826069
34Molar tooth sign on MRI (HP:0002419)3.44826069
35Abnormality of the renal medulla (HP:0100957)3.40944197
36Spontaneous hematomas (HP:0007420)3.26981475
37Mitral valve prolapse (HP:0001634)3.25481443
38Keratoconus (HP:0000563)3.24537795
39Increased corneal curvature (HP:0100692)3.24537795
40Eczematoid dermatitis (HP:0000976)3.15761824
41Type II lissencephaly (HP:0007260)3.10271287
42Mutism (HP:0002300)3.07342624
43Axonal loss (HP:0003447)3.03896938
44Soft skin (HP:0000977)3.00388492
45Spondylolisthesis (HP:0003302)3.00386395
46Fair hair (HP:0002286)2.96536020
47Urethral obstruction (HP:0000796)2.94591001
48Medial flaring of the eyebrow (HP:0010747)2.93947057
49Clumsiness (HP:0002312)2.93828870
50Disinhibition (HP:0000734)2.91845235
51Urinary glycosaminoglycan excretion (HP:0003541)2.91322816
52Mucopolysacchariduria (HP:0008155)2.91322816
53Renal cortical cysts (HP:0000803)2.87482640
54Large for gestational age (HP:0001520)2.83812511
55Inability to walk (HP:0002540)2.83808110
56Tubular atrophy (HP:0000092)2.82728699
57Cystic liver disease (HP:0006706)2.82538485
58Chronic hepatic failure (HP:0100626)2.82520275
59Congenital sensorineural hearing impairment (HP:0008527)2.82002925
60Abnormality of mucopolysaccharide metabolism (HP:0011020)2.81353423
61Abnormality of polysaccharide metabolism (HP:0011012)2.81353423
62Abnormality of glycosaminoglycan metabolism (HP:0004371)2.81353423
63Recurrent gram-negative bacterial infections (HP:0005420)2.81314537
64Broad metatarsal (HP:0001783)2.79010173
65Febrile seizures (HP:0002373)2.75077083
66Abnormal drinking behavior (HP:0030082)2.73167642
67Polydipsia (HP:0001959)2.73167642
68Protruding tongue (HP:0010808)2.70587562
69Vacuolated lymphocytes (HP:0001922)2.66087721
70Abolished electroretinogram (ERG) (HP:0000550)2.64332680
71Aplasia/Hypoplasia of the tibia (HP:0005772)2.59681962
72Progressive visual loss (HP:0000529)2.59217632
73Protrusio acetabuli (HP:0003179)2.59112903
74Absent speech (HP:0001344)2.57994388
75Decreased circulating renin level (HP:0003351)2.57418481
76Premature rupture of membranes (HP:0001788)2.56389489
77Decreased central vision (HP:0007663)2.51771396
78Cerebellar dysplasia (HP:0007033)2.51479226
79Asymmetric septal hypertrophy (HP:0001670)2.50424010
80Abnormality of alanine metabolism (HP:0010916)2.49176595
81Hyperalaninemia (HP:0003348)2.49176595
82Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.49176595
83Osteolytic defects of the hand bones (HP:0009699)2.45935247
84Osteolytic defects of the phalanges of the hand (HP:0009771)2.45935247
85Broad-based gait (HP:0002136)2.40388415
86Thick nail (HP:0001805)2.39386611
87Congenital hepatic fibrosis (HP:0002612)2.37974610
88Myocardial infarction (HP:0001658)2.36218162
89Gait imbalance (HP:0002141)2.34609676
90Progressive inability to walk (HP:0002505)2.32212654
91Chronic diarrhea (HP:0002028)2.30692068
92Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.29056528
93Aplasia/Hypoplasia of the tongue (HP:0010295)2.27979597
94Generalized hypopigmentation of hair (HP:0011358)2.26386797
95Bony spicule pigmentary retinopathy (HP:0007737)2.26336695
96Polyuria (HP:0000103)2.25072648
97Focal seizures (HP:0007359)2.24002725
98Congenital primary aphakia (HP:0007707)2.23847033
99Furrowed tongue (HP:0000221)2.20638241
100Absent/shortened dynein arms (HP:0200106)2.19913310
101Dynein arm defect of respiratory motile cilia (HP:0012255)2.19913310
102Abnormal rod and cone electroretinograms (HP:0008323)2.19338823
103Shallow orbits (HP:0000586)2.18264095
104Hypoplastic ischia (HP:0003175)2.17944303
105Calf muscle hypertrophy (HP:0008981)2.17270579
106Pathologic fracture (HP:0002756)2.14298582
107Thyroid-stimulating hormone excess (HP:0002925)2.13409015
108Dialeptic seizures (HP:0011146)2.13174503
109Peripheral demyelination (HP:0011096)2.10420013
110Aneurysm (HP:0002617)2.10121651
111Amyloidosis (HP:0011034)2.07780408
112Vertebral compression fractures (HP:0002953)2.07767707
113Arnold-Chiari malformation (HP:0002308)2.06860309
114Atrial fibrillation (HP:0005110)2.06649351
115Left ventricular hypertrophy (HP:0001712)2.05965157
116Congenital, generalized hypertrichosis (HP:0004540)2.04358044
117Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.03951271
118Thyroiditis (HP:0100646)2.03343582
119Prolonged QT interval (HP:0001657)2.03117532
120Bulbous nose (HP:0000414)2.02857508
121Abnormal ciliary motility (HP:0012262)2.01669481
122Muscle hypertrophy of the lower extremities (HP:0008968)2.01221774
123Dilatation of the ascending aorta (HP:0005111)2.00494320
124Cardiomegaly (HP:0001640)2.00270272
125Systemic lupus erythematosus (HP:0002725)10.6720539
126Exotropia (HP:0000577)1.99565746
127Abnormality of the ischium (HP:0003174)1.99423828
128Recurrent skin infections (HP:0001581)1.99241679
129Mitral stenosis (HP:0001718)1.99123277
130Hemiparesis (HP:0001269)1.99093537
131Nephrogenic diabetes insipidus (HP:0009806)1.97941233
132Widely spaced teeth (HP:0000687)1.97790464
133Tubulointerstitial fibrosis (HP:0005576)1.97689525
134Colitis (HP:0002583)1.96012000
135Tubulointerstitial abnormality (HP:0001969)1.95807715
136Agnosia (HP:0010524)1.94264294
137Focal motor seizures (HP:0011153)1.92987382
138Upper motor neuron abnormality (HP:0002127)1.92534209
139Sclerocornea (HP:0000647)1.92522847
140Hypothermia (HP:0002045)1.91791511
141Decreased electroretinogram (ERG) amplitude (HP:0000654)1.91316896
142Increased CSF protein (HP:0002922)1.90771123
143Stomach cancer (HP:0012126)1.90674027
144Gingivitis (HP:0000230)1.90320210
145Primary atrial arrhythmia (HP:0001692)1.90069838
146Genital tract atresia (HP:0001827)1.89063549
147Absent rod-and cone-mediated responses on ERG (HP:0007688)1.87544803
148Abnormal urine output (HP:0012590)1.87135551
149Follicular hyperkeratosis (HP:0007502)1.85752957
150Postaxial foot polydactyly (HP:0001830)1.85319077
151Ketosis (HP:0001946)1.84420138
152Hyperkalemia (HP:0002153)1.83387048
153Segmental peripheral demyelination/remyelination (HP:0003481)1.82706221
154Ketoacidosis (HP:0001993)1.82537647
155Anencephaly (HP:0002323)1.82395377
156Blue sclerae (HP:0000592)1.82277880
157Prominent supraorbital ridges (HP:0000336)1.80569001
158Syncope (HP:0001279)1.80424033
159Chorioretinal atrophy (HP:0000533)1.79934247
160Joint stiffness (HP:0001387)1.78382873
161Ulnar claw (HP:0001178)1.78200987
162Short foot (HP:0001773)1.77488875
163Vaginal atresia (HP:0000148)1.77199212
164Absence seizures (HP:0002121)1.76651154
165Facial diplegia (HP:0001349)1.76068628
166Central scotoma (HP:0000603)1.75450718
167Bundle branch block (HP:0011710)1.75312230
168Lissencephaly (HP:0001339)1.75209987
169Abnormality of potassium homeostasis (HP:0011042)1.75081354
170Atonic seizures (HP:0010819)1.74653763
171Bladder diverticulum (HP:0000015)1.74227642
172Spinal muscular atrophy (HP:0007269)1.73526176
173Camptodactyly of toe (HP:0001836)1.73371709
174Bicuspid aortic valve (HP:0001647)1.73163118
175Neuronal loss in central nervous system (HP:0002529)1.71145363
176Progressive neurologic deterioration (HP:0002344)1.70869609
177Joint laxity (HP:0001388)1.69498974
178Periodontitis (HP:0000704)1.65374544
179Bone pain (HP:0002653)1.63867756
180Joint hemorrhage (HP:0005261)1.62243646
181Orthostatic hypotension (HP:0001278)1.61737992
182Polygenic inheritance (HP:0010982)1.59460068
183Bone cyst (HP:0012062)1.59011315
184Abnormality of the lumbar spine (HP:0100712)1.58555832
185Inappropriate behavior (HP:0000719)1.58199635
186Ovoid vertebral bodies (HP:0003300)1.56918625
187Eosinophilia (HP:0001880)1.56313635
188Ankle contracture (HP:0006466)1.55778474
189Abnormality of macrophages (HP:0004311)1.54973793
190Thoracic kyphosis (HP:0002942)1.53031732
191Cervical subluxation (HP:0003308)1.52851029
192Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.51432144
193Coarse hair (HP:0002208)1.50389753
194Broad ribs (HP:0000885)1.49294724
195Thickened calvaria (HP:0002684)1.48265246
196Pulmonary artery stenosis (HP:0004415)1.45903537
197Hydroxyprolinuria (HP:0003080)1.44668467
198Abnormality of proline metabolism (HP:0010907)1.44668467

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TGFBR28.40173475
2GRK74.33320757
3MAPK153.93216207
4CAMK1D3.51148859
5PINK12.95449271
6CAMK1G2.85545973
7BMPR1B2.84623831
8ACVR1B2.73868288
9CSF1R2.65438996
10TYK22.36392609
11IRAK42.23097349
12BLK2.21770964
13OBSCN2.12503814
14GRK12.10987983
15MAP4K22.04501602
16MAPK131.87736763
17TAOK31.83893508
18WNK31.68783706
19JAK11.60099468
20NUAK11.58637513
21CASK1.56917964
22ADRBK21.55411533
23WNK41.50603972
24INSRR1.50266837
25ITK1.49791380
26NEK91.42575221
27ADRBK11.40818739
28PDK21.39537971
29NTRK31.39489104
30STK38L1.37742524
31MAPK121.35620590
32RIPK41.35500147
33MARK11.35431870
34MAP3K41.35035243
35PAK41.34961408
36CAMKK21.34222106
37ERN11.34021496
38ZAK1.33596515
39DAPK21.33056968
40PAK31.31431553
41TIE11.26328000
42TGFBR11.26313972
43AKT31.22076819
44MUSK1.22001356
45MYLK1.21376139
46OXSR11.19846267
47TNIK1.19465217
48STK391.19449475
49EPHB11.17138783
50LATS11.12157942
51PRKCE1.10991119
52PHKG11.08161946
53PHKG21.08161946
54HCK1.04242004
55CSK1.03410244
56TBK11.03132298
57ZAP701.02731772
58PNCK1.02494657
59NLK1.00705718
60MAPK70.99270246
61PTK2B0.98682874
62STK100.96931014
63DMPK0.94031696
64MAP3K100.93854475
65CAMK40.93737290
66MKNK20.92875453
67PAK20.91297083
68SIK10.88788534
69PRKCG0.87896452
70MAP2K30.87798907
71EEF2K0.85993286
72CDK30.85221771
73LYN0.84628700
74CLK10.83754634
75SIK20.82863588
76PIK3CG0.81488428
77TRIB30.81229308
78TEC0.80479447
79CAMKK10.77310684
80IKBKB0.77294896
81JAK20.77225611
82IGF1R0.76232685
83MAP3K140.75775663
84CAMK2A0.75632716
85KIT0.75550040
86MOS0.73535741
87PRKAA20.72737399
88FER0.72169703
89IRAK30.71793182
90TSSK60.70025677
91TTN0.68991426
92MAP4K10.65795808
93LCK0.64690383
94MATK0.64081391
95PLK20.63800430
96TLK10.63774157
97TXK0.63489886
98MAPKAPK20.61205722
99MAPKAPK30.61022646
100VRK10.60949561
101MAPKAPK50.60699658
102MAP3K60.60269143
103IRAK10.59597762
104PRKAA10.59379444
105SCYL20.59319026
106PKN10.59169176
107PTK60.58765174
108CDK60.58317985
109PRKG10.57845309
110IRAK20.57754599
111FES0.57444546
112SGK30.56419388
113GSK3A0.56046620
114FGFR30.55308809
115PRKACA0.55247757
116MAP2K70.53836364
117TRPM70.53702188
118PRKD10.52887265
119PDGFRA0.52237282
120BTK0.52204443
121MAP2K10.51511612
122STK110.51351897
123SGK2230.51134997
124SGK4940.51134997
125MARK30.49898145
126FRK0.49289423
127RIPK10.48135928
128GRK50.47507999
129MAP3K130.47383823
130EIF2AK20.47316088
131DDR20.46757038
132SGK20.46394457
133PDGFRB0.45946927
134TNK20.45715419
135CAMK10.45604760
136PKN20.45497780
137PDK10.45403671
138EGFR0.44884397
139MAP2K60.44773640
140CAMK2D0.43844414
141PRKCQ0.43694318
142EPHA30.41672840
143MST1R0.40913173
144DYRK20.40177439
145INSR0.40131540
146NTRK20.38905701
147CSNK1G20.38677358
148PDPK10.38092797
149PRKACB0.37711621
150PRKCA0.37573577
151ROCK10.37486173
152WNK10.37412714
153ERBB30.37315792
154PRKCH0.37204040
155PIK3CA0.36646454
156DYRK1A0.35389528
157MAPK40.35146563
158PRKACG0.35020472
159SYK0.34915256
160STK380.34883243
161RPS6KA20.34464976
162MAP3K70.33827150
163ERBB20.33767931
164STK30.32559103
165CHUK0.32234283
166FGFR20.31993338
167EPHA40.30930016

Predicted pathways (KEGG)

RankGene SetZ-score
1Staphylococcus aureus infection_Homo sapiens_hsa051505.82051181
2Glycosaminoglycan degradation_Homo sapiens_hsa005313.54429531
3Other glycan degradation_Homo sapiens_hsa005113.35953642
4Complement and coagulation cascades_Homo sapiens_hsa046102.76056552
5Butanoate metabolism_Homo sapiens_hsa006502.70893359
6Linoleic acid metabolism_Homo sapiens_hsa005912.58957290
7Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.52848673
8Osteoclast differentiation_Homo sapiens_hsa043802.48467901
9Tryptophan metabolism_Homo sapiens_hsa003802.44504770
10Lysosome_Homo sapiens_hsa041422.41107328
11Phototransduction_Homo sapiens_hsa047442.31469302
12Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.26068036
13Pertussis_Homo sapiens_hsa051332.24098246
14alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.19379171
15Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.13798385
16Prion diseases_Homo sapiens_hsa050202.06699523
17Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.99082670
18Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.97304110
19Leishmaniasis_Homo sapiens_hsa051401.94669529
20Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.93274581
21Nicotine addiction_Homo sapiens_hsa050331.92343592
22Nitrogen metabolism_Homo sapiens_hsa009101.85076597
23Primary bile acid biosynthesis_Homo sapiens_hsa001201.79847204
24Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.77446652
25Steroid hormone biosynthesis_Homo sapiens_hsa001401.73367957
26Taste transduction_Homo sapiens_hsa047421.69972033
27Retinol metabolism_Homo sapiens_hsa008301.65936653
28Morphine addiction_Homo sapiens_hsa050321.63651083
29Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.63311136
30Histidine metabolism_Homo sapiens_hsa003401.56529254
31Chemical carcinogenesis_Homo sapiens_hsa052041.56308637
32B cell receptor signaling pathway_Homo sapiens_hsa046621.56015586
33Olfactory transduction_Homo sapiens_hsa047401.51859478
34Toll-like receptor signaling pathway_Homo sapiens_hsa046201.51536369
35Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.51441703
36Propanoate metabolism_Homo sapiens_hsa006401.46576276
37Maturity onset diabetes of the young_Homo sapiens_hsa049501.45883742
38Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.44555801
39Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.41575759
40Circadian entrainment_Homo sapiens_hsa047131.37827574
41Ovarian steroidogenesis_Homo sapiens_hsa049131.35672788
42Toxoplasmosis_Homo sapiens_hsa051451.35084749
43Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.33565881
44Vascular smooth muscle contraction_Homo sapiens_hsa042701.33354090
45beta-Alanine metabolism_Homo sapiens_hsa004101.32676697
46Calcium signaling pathway_Homo sapiens_hsa040201.31521716
47Malaria_Homo sapiens_hsa051441.30856543
48Fatty acid degradation_Homo sapiens_hsa000711.27690396
49Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.27205438
50Glutamatergic synapse_Homo sapiens_hsa047241.26606896
51AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.26540504
52Insulin secretion_Homo sapiens_hsa049111.24660162
53Tuberculosis_Homo sapiens_hsa051521.23817163
54Glycerolipid metabolism_Homo sapiens_hsa005611.23456889
55GABAergic synapse_Homo sapiens_hsa047271.22321105
56Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.21972675
57Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.20217369
58ECM-receptor interaction_Homo sapiens_hsa045121.20140385
59Selenocompound metabolism_Homo sapiens_hsa004501.18536758
60Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.16031620
61Serotonergic synapse_Homo sapiens_hsa047261.11487867
62Salivary secretion_Homo sapiens_hsa049701.10734884
63Pancreatic cancer_Homo sapiens_hsa052121.09419468
64Amoebiasis_Homo sapiens_hsa051461.06133739
65Peroxisome_Homo sapiens_hsa041461.05790761
66Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.05526497
67Chemokine signaling pathway_Homo sapiens_hsa040621.04353886
68Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.03916312
69Platelet activation_Homo sapiens_hsa046111.03493398
70Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.01127598
71Circadian rhythm_Homo sapiens_hsa047101.00127362
72Chronic myeloid leukemia_Homo sapiens_hsa052200.99800313
73Adherens junction_Homo sapiens_hsa045200.98996566
74Focal adhesion_Homo sapiens_hsa045100.97010620
75Cardiac muscle contraction_Homo sapiens_hsa042600.89744411
76Phagosome_Homo sapiens_hsa041450.88957002
77Antigen processing and presentation_Homo sapiens_hsa046120.88077731
78Legionellosis_Homo sapiens_hsa051340.87482058
79Leukocyte transendothelial migration_Homo sapiens_hsa046700.87394658
80Long-term depression_Homo sapiens_hsa047300.85891082
81Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.85048208
82Hematopoietic cell lineage_Homo sapiens_hsa046400.83935512
83Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.83472433
84Arachidonic acid metabolism_Homo sapiens_hsa005900.81874141
85Dilated cardiomyopathy_Homo sapiens_hsa054140.81698464
86Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.81012092
87Oxytocin signaling pathway_Homo sapiens_hsa049210.80980336
88Measles_Homo sapiens_hsa051620.80819103
89Endocytosis_Homo sapiens_hsa041440.80802086
90Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.79801122
91Influenza A_Homo sapiens_hsa051640.74917186
92NF-kappa B signaling pathway_Homo sapiens_hsa040640.74372884
93Salmonella infection_Homo sapiens_hsa051320.71776304
94Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.71445843
95Fatty acid biosynthesis_Homo sapiens_hsa000610.71319805
96Renin secretion_Homo sapiens_hsa049240.69940434
97Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.69192403
98Protein digestion and absorption_Homo sapiens_hsa049740.68030243
99Colorectal cancer_Homo sapiens_hsa052100.67325657
100Aldosterone synthesis and secretion_Homo sapiens_hsa049250.66510939
101Type II diabetes mellitus_Homo sapiens_hsa049300.66093556
102Bile secretion_Homo sapiens_hsa049760.64404241
103Carbohydrate digestion and absorption_Homo sapiens_hsa049730.63968644
104Gastric acid secretion_Homo sapiens_hsa049710.63874680
105Notch signaling pathway_Homo sapiens_hsa043300.63020945
106Jak-STAT signaling pathway_Homo sapiens_hsa046300.62112135
107Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.61741894
108Pentose and glucuronate interconversions_Homo sapiens_hsa000400.61729928
109Insulin resistance_Homo sapiens_hsa049310.61596557
110Rheumatoid arthritis_Homo sapiens_hsa053230.61235685
111Regulation of actin cytoskeleton_Homo sapiens_hsa048100.61109774
112Rap1 signaling pathway_Homo sapiens_hsa040150.59313174
113Dopaminergic synapse_Homo sapiens_hsa047280.58993125
114Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.58821236
115Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.58614569
116Renal cell carcinoma_Homo sapiens_hsa052110.58219087
117Cholinergic synapse_Homo sapiens_hsa047250.57628973
118Fat digestion and absorption_Homo sapiens_hsa049750.57492062
119Small cell lung cancer_Homo sapiens_hsa052220.56918940
120Neurotrophin signaling pathway_Homo sapiens_hsa047220.56207510
121Lysine degradation_Homo sapiens_hsa003100.54500199
122Hepatitis B_Homo sapiens_hsa051610.54365046
123Homologous recombination_Homo sapiens_hsa034400.54304372
124Tyrosine metabolism_Homo sapiens_hsa003500.54107472
125Glycerophospholipid metabolism_Homo sapiens_hsa005640.53749773
126Viral myocarditis_Homo sapiens_hsa054160.53233597
127Caffeine metabolism_Homo sapiens_hsa002320.52978809
128Proteoglycans in cancer_Homo sapiens_hsa052050.52467769
129Regulation of autophagy_Homo sapiens_hsa041400.52355729
130Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.52093915
131TNF signaling pathway_Homo sapiens_hsa046680.51791538
132Cyanoamino acid metabolism_Homo sapiens_hsa004600.51494512
133Ether lipid metabolism_Homo sapiens_hsa005650.51091440
134Asthma_Homo sapiens_hsa053100.49987498
135Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.49871225
136* ABC transporters_Homo sapiens_hsa020100.49852955
137Cocaine addiction_Homo sapiens_hsa050300.49361206
138TGF-beta signaling pathway_Homo sapiens_hsa043500.49128206
139Pancreatic secretion_Homo sapiens_hsa049720.48903539
140Amphetamine addiction_Homo sapiens_hsa050310.48472399
141Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.47577149
142Transcriptional misregulation in cancer_Homo sapiens_hsa052020.46690081
143Dorso-ventral axis formation_Homo sapiens_hsa043200.45153502
144cGMP-PKG signaling pathway_Homo sapiens_hsa040220.44758895
145Renin-angiotensin system_Homo sapiens_hsa046140.44432749
146Estrogen signaling pathway_Homo sapiens_hsa049150.44267379
147African trypanosomiasis_Homo sapiens_hsa051430.43854482
148Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.43758686
149Apoptosis_Homo sapiens_hsa042100.43085104
150PPAR signaling pathway_Homo sapiens_hsa033200.43026160
151Acute myeloid leukemia_Homo sapiens_hsa052210.42719984
152Mineral absorption_Homo sapiens_hsa049780.42693202
153Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.42059711
154NOD-like receptor signaling pathway_Homo sapiens_hsa046210.41990296
155Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.41857861
156Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.41387253
157MAPK signaling pathway_Homo sapiens_hsa040100.41098782
158Sphingolipid signaling pathway_Homo sapiens_hsa040710.40993533
159Phospholipase D signaling pathway_Homo sapiens_hsa040720.40211488
160Adipocytokine signaling pathway_Homo sapiens_hsa049200.39418425
161PI3K-Akt signaling pathway_Homo sapiens_hsa041510.39278356
162Fatty acid metabolism_Homo sapiens_hsa012120.37966505
163cAMP signaling pathway_Homo sapiens_hsa040240.37778643
164Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.36447490
165Pathways in cancer_Homo sapiens_hsa052000.36326388
166FoxO signaling pathway_Homo sapiens_hsa040680.35368602
167Glioma_Homo sapiens_hsa052140.32859258
168Intestinal immune network for IgA production_Homo sapiens_hsa046720.32674720
169Fanconi anemia pathway_Homo sapiens_hsa034600.32427877
170Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.32191636
171N-Glycan biosynthesis_Homo sapiens_hsa005100.31287444
172Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.28577175
173Metabolic pathways_Homo sapiens_hsa011000.28043153
174Basal transcription factors_Homo sapiens_hsa030220.27447444

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