GABRE

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: The product of this gene belongs to the ligand-gated ionic channel (TC 1.A.9) family. It encodes the gamma-aminobutyric acid (GABA) A receptor which is a multisubunit chloride channel that mediates the fastest inhibitory synaptic transmission in the central nervous system. This gene encodes an epsilon subunit. It is mapped to chromosome Xq28 in a cluster comprised of genes encoding alpha 3, beta 4 and theta subunits of the same receptor. Alternatively spliced transcript variants have been identified, but only one is thought to encode a protein. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1modulation by organism of defense response of other organism involved in symbiotic interaction (GO:07.70850189
2positive regulation by organism of defense response of other organism involved in symbiotic interact7.70850189
3modulation by symbiont of host immune response (GO:0052553)7.70850189
4positive regulation by symbiont of host defense response (GO:0052509)7.70850189
5modulation by symbiont of host defense response (GO:0052031)7.70850189
6modulation by organism of immune response of other organism involved in symbiotic interaction (GO:007.70850189
7positive regulation of chemokine biosynthetic process (GO:0045080)6.76632617
8positive regulation of heat generation (GO:0031652)6.52618549
9regulation of fever generation (GO:0031620)6.09971987
10eosinophil chemotaxis (GO:0048245)5.82319807
11nuclear pore complex assembly (GO:0051292)5.63141125
12negative regulation by host of viral transcription (GO:0043922)5.45859146
13positive regulation of interleukin-8 biosynthetic process (GO:0045416)5.44344306
14macrophage activation involved in immune response (GO:0002281)5.41029237
15regulation of chemokine biosynthetic process (GO:0045073)5.34410786
16desmosome organization (GO:0002934)5.29601113
17eosinophil migration (GO:0072677)5.09469782
18response to immune response of other organism involved in symbiotic interaction (GO:0052564)5.01001471
19response to host immune response (GO:0052572)5.01001471
20microglial cell activation (GO:0001774)4.98413435
21antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.89629434
22regulation of heat generation (GO:0031650)4.88904797
23regulation of mononuclear cell migration (GO:0071675)4.87395074
24low-density lipoprotein particle clearance (GO:0034383)4.78832947
25monocyte chemotaxis (GO:0002548)4.68421936
26nuclear pore organization (GO:0006999)4.67101080
27detection of molecule of bacterial origin (GO:0032490)4.64280953
28positive regulation of heterotypic cell-cell adhesion (GO:0034116)4.61411223
29response to peptidoglycan (GO:0032494)4.58725190
30lipopolysaccharide-mediated signaling pathway (GO:0031663)4.56855516
31response to host defenses (GO:0052200)4.41689450
32response to defenses of other organism involved in symbiotic interaction (GO:0052173)4.41689450
33response to host (GO:0075136)4.41689450
34iron ion import (GO:0097286)4.29768059
35neutrophil activation involved in immune response (GO:0002283)4.27708748
36bundle of His cell to Purkinje myocyte communication (GO:0086069)4.24137002
37diterpenoid biosynthetic process (GO:0016102)4.15028080
38negative regulation of amino acid transport (GO:0051956)4.09037368
39regulation of histone H3-K27 methylation (GO:0061085)4.04349544
40granulocyte activation (GO:0036230)4.03717682
41regulation of lymphocyte chemotaxis (GO:1901623)4.02924993
42myeloid cell activation involved in immune response (GO:0002275)4.00937653
43regulation of interferon-beta biosynthetic process (GO:0045357)3.90633378
44pore complex assembly (GO:0046931)3.89675773
45regulation of vitamin D biosynthetic process (GO:0060556)3.88009630
46macrophage chemotaxis (GO:0048246)3.86180637
47positive regulation of interleukin-1 beta secretion (GO:0050718)3.75836224
48triglyceride catabolic process (GO:0019433)3.68213216
49oxaloacetate metabolic process (GO:0006107)3.64099932
50homocysteine metabolic process (GO:0050667)3.64037368
51cellular response to interferon-beta (GO:0035458)3.61870824
52regulation of T-helper 1 cell differentiation (GO:0045625)3.60633661
53regulation of interleukin-8 biosynthetic process (GO:0045414)3.60479691
54negative regulation of complement activation (GO:0045916)3.56101509
55regulation of heterotypic cell-cell adhesion (GO:0034114)3.53633418
56regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.52848377
57I-kappaB phosphorylation (GO:0007252)3.51567701
58cellular response to nicotine (GO:0071316)3.50747012
59positive regulation of inflammatory response to antigenic stimulus (GO:0002863)3.50697468
60macrophage activation (GO:0042116)3.49206428
61positive regulation of NF-kappaB import into nucleus (GO:0042346)3.48818222
62negative regulation of protein activation cascade (GO:2000258)3.48298369
63positive regulation of interleukin-1 secretion (GO:0050716)3.45109513
64regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.43294987
65definitive hemopoiesis (GO:0060216)3.43141017
66midgut development (GO:0007494)3.42404168
67acylglycerol catabolic process (GO:0046464)3.38225666
68neutral lipid catabolic process (GO:0046461)3.38225666
69regulation of vitamin metabolic process (GO:0030656)3.38079687
70regulation of NFAT protein import into nucleus (GO:0051532)3.34872348
71positive regulation of chemokine production (GO:0032722)3.32073534
72sarcoplasmic reticulum calcium ion transport (GO:0070296)3.31667761
73surfactant homeostasis (GO:0043129)3.24786056
74G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)3.23975710
75regulation of interferon-gamma biosynthetic process (GO:0045072)3.23639385
76retinal metabolic process (GO:0042574)3.23222628
77regulation of interleukin-1 beta secretion (GO:0050706)3.22929653
78lymphocyte chemotaxis (GO:0048247)3.22545863
79response to vitamin A (GO:0033189)3.19885654
80positive regulation of lymphocyte migration (GO:2000403)3.18353232
81response to cholesterol (GO:0070723)3.18209612
82COPII vesicle coating (GO:0048208)3.17078320
83COPI coating of Golgi vesicle (GO:0048205)3.15963180
84Golgi transport vesicle coating (GO:0048200)3.15963180
85terpenoid biosynthetic process (GO:0016114)3.15607806
86T cell migration (GO:0072678)3.14110030
87NADH metabolic process (GO:0006734)3.12927621
88positive regulation of acute inflammatory response (GO:0002675)3.11437211
89response to follicle-stimulating hormone (GO:0032354)3.10923030
90negative regulation of viral genome replication (GO:0045071)3.10212183
91regulation of podosome assembly (GO:0071801)3.10193921
92modulation by symbiont of host cellular process (GO:0044068)3.05410203
93wound healing, spreading of epidermal cells (GO:0035313)3.04875532
94vascular endothelial growth factor signaling pathway (GO:0038084)3.02682135
95ethanol oxidation (GO:0006069)3.01627128
96regulation of complement activation (GO:0030449)3.01606745
97cellular extravasation (GO:0045123)3.00572271
98regulation of translational fidelity (GO:0006450)2.99470314
99proline biosynthetic process (GO:0006561)2.99022251
100glial cell migration (GO:0008347)2.96899998
101regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)2.96870170
102negative regulation of gluconeogenesis (GO:0045721)2.96258303
103response to manganese ion (GO:0010042)2.95772719
104regulation of RNA export from nucleus (GO:0046831)2.95273134
105respiratory burst (GO:0045730)2.95257586
106positive regulation of humoral immune response (GO:0002922)2.94456684
107positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610812.94102073
108positive regulation of astrocyte differentiation (GO:0048711)2.92970251
109positive regulation of nitric oxide biosynthetic process (GO:0045429)2.92886962
110positive regulation of interferon-alpha production (GO:0032727)2.91266617
111positive regulation of p38MAPK cascade (GO:1900745)2.90885691
112regulation of protein activation cascade (GO:2000257)2.90255015
113cell-substrate junction assembly (GO:0007044)2.90229020
114regulation of mast cell degranulation (GO:0043304)2.88928656
115vesicle coating (GO:0006901)2.88761996
116creatine metabolic process (GO:0006600)2.88728538
117intestinal absorption (GO:0050892)2.88290982
118retina vasculature morphogenesis in camera-type eye (GO:0061299)2.88067097
119regulation of cholesterol homeostasis (GO:2000188)2.87688320
120regulation of sequestering of triglyceride (GO:0010889)2.86809551
121hydrogen peroxide biosynthetic process (GO:0050665)2.84842216
122hemidesmosome assembly (GO:0031581)2.82872062
123regulation of interleukin-1 secretion (GO:0050704)2.82317294
124positive regulation of interleukin-1 beta production (GO:0032731)2.81850835
125peptidyl-glutamic acid carboxylation (GO:0017187)2.81281320
126protein carboxylation (GO:0018214)2.81281320
127G-protein coupled purinergic receptor signaling pathway (GO:0035588)2.80349850
128response to interferon-beta (GO:0035456)2.80214408
129positive regulation of osteoblast proliferation (GO:0033690)2.80190473
130negative regulation of viral transcription (GO:0032897)2.79648450
131positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.78435122
132basement membrane organization (GO:0071711)2.77725838
133detection of external biotic stimulus (GO:0098581)2.76614944
134biotin metabolic process (GO:0006768)2.76136254
135negative regulation of glucose transport (GO:0010829)2.75630163
136positive regulation of cytokine biosynthetic process (GO:0042108)2.75205939
137vitamin A metabolic process (GO:0006776)2.74889921
138negative regulation of organic acid transport (GO:0032891)2.74854878
139lung vasculature development (GO:0060426)2.74761868
140modification by symbiont of host morphology or physiology (GO:0044003)2.74401701
141negative regulation of fatty acid biosynthetic process (GO:0045717)2.73498046
142fatty acid homeostasis (GO:0055089)2.73422508
143positive regulation of protein kinase C signaling (GO:0090037)2.73378641
144polyol transport (GO:0015791)2.73322887
145regulation of integrin activation (GO:0033623)2.73300777
146gas transport (GO:0015669)2.71272270
147positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.71265668
148positive regulation of interleukin-6 production (GO:0032755)2.71134465
149positive regulation of calcium ion import (GO:0090280)2.70411801
150response to sterol (GO:0036314)2.69392762
151regulation of lymphocyte migration (GO:2000401)2.69299929
152negative regulation of bone mineralization (GO:0030502)2.69187268
153regulation of mast cell activation involved in immune response (GO:0033006)2.68336590
154immunoglobulin mediated immune response (GO:0016064)2.68298787
155myeloid cell homeostasis (GO:0002262)2.68002782
156positive regulation of cytokine secretion (GO:0050715)2.67917208
157very-low-density lipoprotein particle assembly (GO:0034379)2.67470346
158negative regulation of lipid storage (GO:0010888)2.67019047
159epithelial cell-cell adhesion (GO:0090136)2.65359282
160collagen fibril organization (GO:0030199)2.63227317
161glucose 6-phosphate metabolic process (GO:0051156)2.62682857
162positive regulation of digestive system process (GO:0060456)2.62247112
163negative regulation of lipase activity (GO:0060192)2.61183290
164flavonoid metabolic process (GO:0009812)2.60465227
165positive regulation of protein import into nucleus, translocation (GO:0033160)2.60321280
166regulation of mitotic spindle organization (GO:0060236)2.59107465
167negative regulation of erythrocyte differentiation (GO:0045647)2.58395062
168tricarboxylic acid metabolic process (GO:0072350)2.58071709
169regulation of nucleobase-containing compound transport (GO:0032239)2.54872087
170protein hydroxylation (GO:0018126)2.52936691
171plasma lipoprotein particle assembly (GO:0034377)2.52219101
172protein-lipid complex assembly (GO:0065005)2.51471551
173primary alcohol metabolic process (GO:0034308)2.49293932
174diacylglycerol metabolic process (GO:0046339)2.48988724
175cell-substrate adherens junction assembly (GO:0007045)2.48729165
176focal adhesion assembly (GO:0048041)2.48729165
177peptidyl-proline hydroxylation (GO:0019511)2.46921389
178plasma lipoprotein particle clearance (GO:0034381)2.46860950
179retinol metabolic process (GO:0042572)2.46624259
180renal filtration (GO:0097205)2.44215342
181ethanol metabolic process (GO:0006067)2.44162786
182atrioventricular valve morphogenesis (GO:0003181)2.42444249
183negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)2.41851367
184positive regulation of vascular permeability (GO:0043117)2.40280647
185proline metabolic process (GO:0006560)2.38368451
186coronary vasculature morphogenesis (GO:0060977)2.37641177
187complement activation, classical pathway (GO:0006958)2.36857064
188negative regulation of potassium ion transmembrane transport (GO:1901380)2.35539714
189cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.35426309
190lipoprotein metabolic process (GO:0042157)2.35276499
191glomerular filtration (GO:0003094)2.35171068
192regulation of apoptotic cell clearance (GO:2000425)2.34709435
193regulation of cholesterol metabolic process (GO:0090181)2.32121305
194hyaluronan metabolic process (GO:0030212)2.31563984
195establishment of skin barrier (GO:0061436)2.31216360
196fatty acid transmembrane transport (GO:1902001)2.30139292
197negative regulation of fatty acid transport (GO:2000192)2.29843651
198adherens junction assembly (GO:0034333)2.28269967
199negative regulation of humoral immune response (GO:0002921)2.28014771
200protein heterotrimerization (GO:0070208)2.27860228

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.04635983
2PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.97494665
3IRF8_21731497_ChIP-ChIP_J774_Mouse4.22802432
4E2F7_22180533_ChIP-Seq_HELA_Human4.13660999
5EGR1_19374776_ChIP-ChIP_THP-1_Human4.10392652
6ZNF263_19887448_ChIP-Seq_K562_Human4.07498402
7ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.39890042
8SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.13897929
9GATA1_19941826_ChIP-Seq_K562_Human3.08165600
10CLOCK_20551151_ChIP-Seq_293T_Human3.06106036
11IRF8_27001747_Chip-Seq_BMDM_Mouse2.98583556
12Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.97884513
13RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.87055838
14GATA1_22025678_ChIP-Seq_K562_Human2.73497476
15NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.57687454
16TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.55104787
17THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.49112020
18NCOR1_26117541_ChIP-Seq_K562_Human2.47579431
19IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.42218986
20STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.21449535
21SMAD_19615063_ChIP-ChIP_OVARY_Human2.20084503
22NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.19613774
23GATA2_19941826_ChIP-Seq_K562_Human2.17405105
24PPAR_26484153_Chip-Seq_NCI-H1993_Human2.14363720
25RXR_22158963_ChIP-Seq_LIVER_Mouse2.14074463
26TRIM28_21343339_ChIP-Seq_HEK293_Human2.13386805
27NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.13307034
28PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.12619271
29MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.11561067
30BP1_19119308_ChIP-ChIP_Hs578T_Human10.5206203
31PPARA_22158963_ChIP-Seq_LIVER_Mouse1.99466122
32KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.96322478
33LXR_22158963_ChIP-Seq_LIVER_Mouse1.91332232
34SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.90268211
35STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.80009045
36KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.79669375
37SALL1_21062744_ChIP-ChIP_HESCs_Human1.76630096
38AR_21909140_ChIP-Seq_LNCAP_Human1.76335487
39IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.75744056
40IKZF1_21737484_ChIP-ChIP_HCT116_Human1.75458912
41VDR_24787735_ChIP-Seq_THP-1_Human1.65022245
42NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.59706830
43RACK7_27058665_Chip-Seq_MCF-7_Human1.58741188
44GATA6_25053715_ChIP-Seq_YYC3_Human1.58096430
45MYB_21317192_ChIP-Seq_ERMYB_Mouse1.57543743
46FOXM1_23109430_ChIP-Seq_U2OS_Human1.56394452
47CDX2_19796622_ChIP-Seq_MESCs_Mouse1.55028393
48SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.54431428
49SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.54431428
50STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.49278619
51ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.48209637
52VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.47610192
53NRF2_20460467_ChIP-Seq_MEFs_Mouse1.47542958
54NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.47542958
55RUNX1_27514584_Chip-Seq_MCF-7_Human1.46845778
56PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.42224074
57TCF4_18268006_ChIP-ChIP_LS174T_Human1.41025328
58RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.40232959
59P300_27058665_Chip-Seq_ZR-75-30cells_Human1.40193399
60FOXA2_19822575_ChIP-Seq_HepG2_Human1.39807754
61VDR_24763502_ChIP-Seq_THP-1_Human1.39729229
62TBX20_22328084_ChIP-Seq_HEART_Mouse1.39565129
63TBX20_22080862_ChIP-Seq_HEART_Mouse1.39565129
64CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.38683120
65SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.37111262
66TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.36370677
67FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.35685653
68STAT4_19710469_ChIP-ChIP_TH1__Mouse1.35627862
69* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.35530818
70KDM2B_26808549_Chip-Seq_K562_Human1.33913236
71CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.33668130
72CJUN_26792858_Chip-Seq_BT549_Human1.28772738
73ATF3_27146783_Chip-Seq_COLON_Human1.27917472
74SOX9_24532713_ChIP-Seq_HFSC_Mouse1.26710173
75EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.25931082
76RBPJ_22232070_ChIP-Seq_NCS_Mouse1.25489604
77GATA4_25053715_ChIP-Seq_YYC3_Human1.23597336
78HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.22368687
79SPI1_23127762_ChIP-Seq_K562_Human1.21923452
80ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.20106225
81GATA2_21666600_ChIP-Seq_HMVEC_Human1.19397900
82FOXO3_23340844_ChIP-Seq_DLD1_Human1.19327022
83SOX2_27498859_Chip-Seq_STOMACH_Mouse1.19263296
84* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.18454426
85* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.16839865
86FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.16783576
87PU_27001747_Chip-Seq_BMDM_Mouse1.15365096
88UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.13925731
89WT1_19549856_ChIP-ChIP_CCG9911_Human1.13769754
90TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.12183786
91NFIB_24661679_ChIP-Seq_LUNG_Mouse1.11457242
92PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.11368527
93BRD4_27068464_Chip-Seq_AML-cells_Mouse1.11003970
94NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.11003621
95HNF4A_19822575_ChIP-Seq_HepG2_Human1.08575788
96NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.08259133
97FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.07299605
98SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.07045309
99STAT3_1855785_ChIP-Seq_MESCs_Mouse1.06454517
100UBF1/2_26484160_Chip-Seq_HMECs_Human1.06326252
101RARG_19884340_ChIP-ChIP_MEFs_Mouse1.06035286
102SCL_19346495_ChIP-Seq_HPC-7_Human1.05219079
103ESR1_21235772_ChIP-Seq_MCF-7_Human1.04442374
104PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.03150506
105TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.01725084
106GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.01724872
107CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.01571136
108ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.98786165
109ZNF217_24962896_ChIP-Seq_MCF-7_Human0.98345924
110CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.97074711
111RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.96906481
112PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.96381633
113STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.95913219
114KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.95631269
115CTNNB1_20460455_ChIP-Seq_HCT116_Human0.94600450
116SOX2_20726797_ChIP-Seq_SW620_Human0.94258400
117KDM2B_26808549_Chip-Seq_SUP-B15_Human0.93922390
118AHR_22903824_ChIP-Seq_MCF-7_Human0.93728022
119ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.93244295
120CREB1_26743006_Chip-Seq_LNCaP_Human0.93172195
121TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.93050310
122RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92497284
123PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.92341222
124KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.92322446
125LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.91658335
126ESR2_21235772_ChIP-Seq_MCF-7_Human0.91534277
127FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.91177873
128CTCF_27219007_Chip-Seq_ERYTHROID_Human0.91130494
129RUNX1_22412390_ChIP-Seq_EML_Mouse0.90831333
130SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.90689561
131RUNX_20019798_ChIP-Seq_JUKART_Human0.89610789
132SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.88924737
133EP300_21415370_ChIP-Seq_HL-1_Mouse0.88515534
134SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.88244202
135ELK3_25401928_ChIP-Seq_HUVEC_Human0.88050592
136HIF1A_21447827_ChIP-Seq_MCF-7_Human0.86520953
137HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.84853466
138TP63_17297297_ChIP-ChIP_HaCaT_Human0.84827831
139EED_16625203_ChIP-ChIP_MESCs_Mouse0.84775820
140TP53_18474530_ChIP-ChIP_U2OS_Human0.83419713
141SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.82978481
142MTF2_20144788_ChIP-Seq_MESCs_Mouse0.81743858
143CDX2_20551321_ChIP-Seq_CACO-2_Human0.80785471
144TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.80065466
145LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.79576298
146FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.79207325
147SPI1_23547873_ChIP-Seq_NB4_Human0.78982152
148TCF7_22412390_ChIP-Seq_EML_Mouse0.78070488
149MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.77996340
150GATA3_27048872_Chip-Seq_THYMUS_Human0.76969520
151CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.76712654
152* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.76481401
153CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.76089339
154SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.74638808
155MYB_26560356_Chip-Seq_TH2_Human0.74412064
156SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.73636445
157LXR_22292898_ChIP-Seq_THP-1_Human0.73003003
158GBX2_23144817_ChIP-Seq_PC3_Human0.72877225
159NR3C1_23031785_ChIP-Seq_PC12_Mouse0.72522928
160WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.72521178
161E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.70249363
162TP53_16413492_ChIP-PET_HCT116_Human0.70191551
163* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.69263549
164GATA3_26560356_Chip-Seq_TH2_Human0.68111943
165GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.66712125
166SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.66376323
167KDM2B_26808549_Chip-Seq_DND41_Human0.65113675
168RNF2_27304074_Chip-Seq_ESCs_Mouse0.64961748
169ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.64919341
170SALL4_18804426_ChIP-ChIP_XEN_Mouse0.64550296

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003303_peritoneal_inflammation5.13576699
2MP0003436_decreased_susceptibility_to4.64992584
3MP0006082_CNS_inflammation4.02395019
4MP0005670_abnormal_white_adipose3.63954964
5MP0008004_abnormal_stomach_pH3.61313066
6MP0009785_altered_susceptibility_to3.30351215
7MP0001853_heart_inflammation3.15727139
8MP0008438_abnormal_cutaneous_collagen3.08031220
9MP0003724_increased_susceptibility_to2.94519706
10MP0002148_abnormal_hypersensitivity_rea2.91509821
11MP0002419_abnormal_innate_immunity2.78309564
12MP0005666_abnormal_adipose_tissue2.65684440
13MP0005000_abnormal_immune_tolerance2.62598533
14MP0001835_abnormal_antigen_presentation2.54884069
15MP0001533_abnormal_skeleton_physiology2.49000381
16MP0005025_abnormal_response_to2.47926548
17MP0003950_abnormal_plasma_membrane2.40486437
18MP0003172_abnormal_lysosome_physiology2.40118257
19MP0003075_altered_response_to2.26505615
20MP0005464_abnormal_platelet_physiology2.21544601
21MP0005375_adipose_tissue_phenotype2.20881298
22MP0009764_decreased_sensitivity_to2.20376538
23MP0006138_congestive_heart_failure2.19157107
24MP0005360_urolithiasis2.14844982
25MP0004084_abnormal_cardiac_muscle2.13336289
26MP0001661_extended_life_span2.10749519
27MP0005083_abnormal_biliary_tract2.03987927
28MP0005671_abnormal_response_to2.02432224
29MP0002971_abnormal_brown_adipose1.98712267
30MP0000003_abnormal_adipose_tissue1.97707730
31MP0002723_abnormal_immune_serum1.93037600
32MP0002452_abnormal_antigen_presenting1.86907374
33MP0002998_abnormal_bone_remodeling1.84788398
34MP0009115_abnormal_fat_cell1.82832183
35MP0008775_abnormal_heart_ventricle1.82652575
36MP0010368_abnormal_lymphatic_system1.81868437
37MP0004947_skin_inflammation1.81394140
38MP0005451_abnormal_body_composition1.81274525
39MP0000678_abnormal_parathyroid_gland1.78616997
40MP0005076_abnormal_cell_differentiation1.76898712
41MP0000013_abnormal_adipose_tissue1.73329531
42MP0005409_darkened_coat_color1.71672944
43MP0010329_abnormal_lipoprotein_level1.67581362
44MP0004147_increased_porphyrin_level1.67321718
45MP0000566_synostosis1.66797151
46MP0002006_tumorigenesis1.64228848
47MP0002933_joint_inflammation1.61178527
48MP0009697_abnormal_copulation1.60667017
49MP0009780_abnormal_chondrocyte_physiolo1.55884683
50MP0000751_myopathy1.55312035
51MP0005645_abnormal_hypothalamus_physiol1.54808437
52MP0005166_decreased_susceptibility_to1.54160196
53MP0003959_abnormal_lean_body1.52378761
54MP0001851_eye_inflammation1.52058861
55MP0003656_abnormal_erythrocyte_physiolo1.50642572
56MP0001800_abnormal_humoral_immune1.49564338
57MP0004510_myositis1.49488449
58MP0005390_skeleton_phenotype1.48377121
59MP0002139_abnormal_hepatobiliary_system1.48246663
60MP0001819_abnormal_immune_cell1.45328545
61MP0002060_abnormal_skin_morphology1.44964577
62MP0002420_abnormal_adaptive_immunity1.43029211
63MP0009278_abnormal_bone_marrow1.42017496
64MP0003045_fibrosis1.40737271
65MP0002108_abnormal_muscle_morphology1.38081019
66MP0002970_abnormal_white_adipose1.37071272
67MP0001790_abnormal_immune_system1.36636844
68MP0005387_immune_system_phenotype1.36636844
69MP0004264_abnormal_extraembryonic_tissu1.36468268
70MP0005503_abnormal_tendon_morphology1.36264434
71MP0002796_impaired_skin_barrier1.35593220
72MP0002405_respiratory_system_inflammati1.33732853
73MP0004782_abnormal_surfactant_physiolog1.31955274
74MP0009333_abnormal_splenocyte_physiolog1.31508005
75MP0000569_abnormal_digit_pigmentation1.31237709
76MP0001958_emphysema1.31217000
77MP0004272_abnormal_basement_membrane1.30772071
78MP0004130_abnormal_muscle_cell1.29340562
79MP0003566_abnormal_cell_adhesion1.29190801
80MP0003122_maternal_imprinting1.28114878
81MP0010352_gastrointestinal_tract_polyps1.27965512
82MP0005365_abnormal_bile_salt1.27861665
83MP0000343_altered_response_to1.26441799
84MP0005275_abnormal_skin_tensile1.26141766
85MP0005623_abnormal_meninges_morphology1.23144972
86MP0004808_abnormal_hematopoietic_stem1.22809963
87MP0008469_abnormal_protein_level1.21949322
88MP0001845_abnormal_inflammatory_respons1.21180721
89MP0003279_aneurysm1.19677537
90MP0001727_abnormal_embryo_implantation1.19534488
91MP0005164_abnormal_response_to1.19384868
92MP0005334_abnormal_fat_pad1.15649636
93MP0004233_abnormal_muscle_weight1.14667961
94MP0004742_abnormal_vestibular_system1.14328143
95MP0010630_abnormal_cardiac_muscle1.14129066
96MP0004036_abnormal_muscle_relaxation1.13458801
97MP0000579_abnormal_nail_morphology1.09447807
98MP0003690_abnormal_glial_cell1.09440245
99MP0001299_abnormal_eye_distance/1.09149388
100MP0004019_abnormal_vitamin_homeostasis1.08382363
101MP0003448_altered_tumor_morphology1.08194444
102MP0003300_gastrointestinal_ulcer1.07991119
103MP0003941_abnormal_skin_development1.05840727
104MP0005385_cardiovascular_system_phenoty1.05451515
105MP0001544_abnormal_cardiovascular_syste1.05451515
106MP0000685_abnormal_immune_system1.04631276
107MP0005330_cardiomyopathy1.03338256
108MP0003705_abnormal_hypodermis_morpholog1.02170031
109MP0008961_abnormal_basal_metabolism1.02027543
110MP0005058_abnormal_lysosome_morphology1.01894894
111MP0002086_abnormal_extraembryonic_tissu1.01112384
112MP0005501_abnormal_skin_physiology1.01021619
113MP0005448_abnormal_energy_balance1.00862710
114MP0005167_abnormal_blood-brain_barrier0.98463600
115MP0002118_abnormal_lipid_homeostasis0.98278510
116MP0010155_abnormal_intestine_physiology0.96871307
117MP0000609_abnormal_liver_physiology0.96591232
118MP0004087_abnormal_muscle_fiber0.95539285
119MP0003828_pulmonary_edema0.94382316
120MP0009931_abnormal_skin_appearance0.94192676
121MP0003385_abnormal_body_wall0.94038589
122MP0005187_abnormal_penis_morphology0.93727425
123MP0000467_abnormal_esophagus_morphology0.91469987
124MP0003191_abnormal_cellular_cholesterol0.90297561
125MP0000716_abnormal_immune_system0.87865575
126MP0002295_abnormal_pulmonary_circulatio0.87639148
127MP0004215_abnormal_myocardial_fiber0.87144807
128MP0001216_abnormal_epidermal_layer0.86283021
129MP0003942_abnormal_urinary_system0.85585407
130MP0000858_altered_metastatic_potential0.85392477
131MP0002128_abnormal_blood_circulation0.85022201
132MP0005332_abnormal_amino_acid0.84974177
133MP0004185_abnormal_adipocyte_glucose0.84386261
134MP0001545_abnormal_hematopoietic_system0.84060261
135MP0005397_hematopoietic_system_phenotyp0.84060261
136MP0003868_abnormal_feces_composition0.83902052
137MP0002736_abnormal_nociception_after0.83839581
138MP0001879_abnormal_lymphatic_vessel0.82424046
139MP0000733_abnormal_muscle_development0.81769983
140MP0002090_abnormal_vision0.81764349
141MP0001501_abnormal_sleep_pattern0.80100289
142MP0005257_abnormal_intraocular_pressure0.79610362
143MP0005647_abnormal_sex_gland0.78941717
144MP0000383_abnormal_hair_follicle0.77982110
145MP0003453_abnormal_keratinocyte_physiol0.77932719
146MP0000266_abnormal_heart_morphology0.77498784
147MP0008874_decreased_physiological_sensi0.76029588
148MP0005174_abnormal_tail_pigmentation0.75406720
149MP0002925_abnormal_cardiovascular_devel0.74411894
150MP0005248_abnormal_Harderian_gland0.74208961
151MP0003984_embryonic_growth_retardation0.73659802
152MP0002088_abnormal_embryonic_growth/wei0.72145460
153MP0002249_abnormal_larynx_morphology0.71813550
154MP0010234_abnormal_vibrissa_follicle0.71758443
155MP0001968_abnormal_touch/_nociception0.71187665
156MP0002896_abnormal_bone_mineralization0.71110834
157MP0002269_muscular_atrophy0.70990112
158MP0000371_diluted_coat_color0.70036056
159MP0001614_abnormal_blood_vessel0.69703043
160MP0003795_abnormal_bone_structure0.69625860
161MP0001666_abnormal_nutrient_absorption0.69326912
162MP0000759_abnormal_skeletal_muscle0.68985291
163MP0004145_abnormal_muscle_electrophysio0.68393479
164MP0005023_abnormal_wound_healing0.68214319
165MP0004085_abnormal_heartbeat0.67332460
166MP0000767_abnormal_smooth_muscle0.67167413
167MP0001915_intracranial_hemorrhage0.67007637
168MP0002166_altered_tumor_susceptibility0.66978637
169MP0000465_gastrointestinal_hemorrhage0.66101487
170MP0000747_muscle_weakness0.65723949
171MP0002972_abnormal_cardiac_muscle0.65503522
172MP0002398_abnormal_bone_marrow0.65190623
173MP0002877_abnormal_melanocyte_morpholog0.65029057
174MP0000920_abnormal_myelination0.64171315
175MP0002429_abnormal_blood_cell0.63016854
176MP0000249_abnormal_blood_vessel0.59735746
177MP0002722_abnormal_immune_system0.58976822
178MP0001440_abnormal_grooming_behavior0.57167277

Predicted human phenotypes

RankGene SetZ-score
1Elevated erythrocyte sedimentation rate (HP:0003565)6.79319816
2Recurrent gram-negative bacterial infections (HP:0005420)5.66549641
3Autoimmune thrombocytopenia (HP:0001973)5.33379431
4Eczematoid dermatitis (HP:0000976)5.11634320
5Systemic lupus erythematosus (HP:0002725)4.76987233
6Axonal loss (HP:0003447)4.37248444
7Polycythemia (HP:0001901)4.33778795
8Recurrent abscess formation (HP:0002722)4.27029878
9Ankyloglossia (HP:0010296)4.25715716
10Protrusio acetabuli (HP:0003179)4.23015995
11Hemorrhage of the eye (HP:0011885)4.16901194
12Recurrent bacterial skin infections (HP:0005406)4.00294255
13Mediastinal lymphadenopathy (HP:0100721)3.98832985
14Abnormality of macrophages (HP:0004311)3.95238394
15Abnormal gallbladder physiology (HP:0012438)3.83140024
16Cholecystitis (HP:0001082)3.83140024
17Gingivitis (HP:0000230)3.78848217
18Petechiae (HP:0000967)3.76268120
19Nausea (HP:0002018)3.71942234
20Ileus (HP:0002595)3.67440988
21Reticulocytosis (HP:0001923)3.65651702
22Basal ganglia calcification (HP:0002135)3.62208018
23Right ventricular cardiomyopathy (HP:0011663)3.49490191
24Poor head control (HP:0002421)3.44308412
25Tetraparesis (HP:0002273)3.37623787
26Cerebral aneurysm (HP:0004944)3.36920015
27Aortic aneurysm (HP:0004942)3.35746322
28Pigmentary retinal degeneration (HP:0001146)3.21741663
29Hemiparesis (HP:0001269)3.20883155
30Vasculitis (HP:0002633)3.20620485
31Interstitial pulmonary disease (HP:0006530)3.20028361
32Increased cerebral lipofuscin (HP:0011813)3.16286125
33Abnormality of oral frenula (HP:0000190)3.14005404
34Purpura (HP:0000979)3.11618516
35Increased neuronal autofluorescent lipopigment (HP:0002074)3.04760876
36Choroideremia (HP:0001139)3.03492138
37Premature rupture of membranes (HP:0001788)3.02797151
38Truncus arteriosus (HP:0001660)2.90149854
39Stomatitis (HP:0010280)2.89446145
40Complement deficiency (HP:0004431)2.82911037
41Emphysema (HP:0002097)2.77413267
42Fragile skin (HP:0001030)2.73456448
43Increased connective tissue (HP:0009025)2.72878989
44Aortic dissection (HP:0002647)2.66037906
45Nonimmune hydrops fetalis (HP:0001790)2.65995517
46Micronodular cirrhosis (HP:0001413)2.64448818
47Disproportionate tall stature (HP:0001519)2.64086558
48Porencephaly (HP:0002132)2.59948293
49Recurrent skin infections (HP:0001581)2.59392250
50Ulnar bowing (HP:0003031)2.58958744
51Bowel incontinence (HP:0002607)2.56603004
52Abnormality of the pericardium (HP:0001697)2.52065623
53Gastrointestinal stroma tumor (HP:0100723)2.51100542
54Obstructive lung disease (HP:0006536)2.50744694
55Chronic obstructive pulmonary disease (HP:0006510)2.50744694
56Duplicated collecting system (HP:0000081)2.50563271
57Abnormality of complement system (HP:0005339)2.50335856
58Prostate neoplasm (HP:0100787)2.50065281
59Acanthosis nigricans (HP:0000956)2.48672003
60Vascular tortuosity (HP:0004948)2.46913152
61Limited elbow extension (HP:0001377)2.46763619
62Recurrent fungal infections (HP:0002841)2.46708280
63Arterial tortuosity (HP:0005116)2.46576047
64Disinhibition (HP:0000734)2.45639395
65Abnormality of the pleura (HP:0002103)2.45083484
66Bladder diverticulum (HP:0000015)2.43893469
67Urticaria (HP:0001025)2.42936001
68Gingival bleeding (HP:0000225)2.42005918
69Breast hypoplasia (HP:0003187)2.41652400
70Venous insufficiency (HP:0005293)2.38379859
71Skin nodule (HP:0200036)2.37494973
72Deep venous thrombosis (HP:0002625)2.36706479
73Abnormality of nail color (HP:0100643)2.36031999
74Pulmonary infiltrates (HP:0002113)2.35414955
75Venous abnormality (HP:0002624)2.35403756
76Restrictive lung disease (HP:0002091)2.34175501
77Flat cornea (HP:0007720)2.32700672
78Thoracolumbar scoliosis (HP:0002944)2.31898118
79Abnormal large intestine physiology (HP:0012700)2.31503484
80Peripheral demyelination (HP:0011096)2.31480505
81Nephritis (HP:0000123)2.30911878
82Acute myeloid leukemia (HP:0004808)2.30578657
83Acanthocytosis (HP:0001927)2.29116052
84Follicular hyperkeratosis (HP:0007502)2.26513505
85Aneurysm (HP:0002617)2.26176996
86Atrophic scars (HP:0001075)2.26147770
87Pathologic fracture (HP:0002756)2.24935255
88Abnormality of the nasal septum (HP:0000419)2.24219950
89Poikilocytosis (HP:0004447)2.23993990
90Myositis (HP:0100614)2.23897849
91Abnormality of glycolysis (HP:0004366)2.23231384
92Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.23078762
93Vertebral compression fractures (HP:0002953)2.22532778
94Ectopia lentis (HP:0001083)2.21654581
95Cheilitis (HP:0100825)2.19997843
96Abnormality of the tricuspid valve (HP:0001702)2.19804714
97Blepharitis (HP:0000498)2.18006266
98Atelectasis (HP:0100750)2.17628385
99Abnormality of reticulocytes (HP:0004312)2.17602317
100Bone pain (HP:0002653)2.15894319
101Plagiocephaly (HP:0001357)2.15532254
102Dilatation of the ascending aorta (HP:0005111)2.15456360
103Hepatosplenomegaly (HP:0001433)2.15325417
104Seborrheic dermatitis (HP:0001051)2.14359625
105Progressive visual loss (HP:0000529)2.14100415
106Asymmetry of the thorax (HP:0001555)2.13255731
107Soft skin (HP:0000977)2.13203302
108Hypertriglyceridemia (HP:0002155)2.13078483
109Breech presentation (HP:0001623)2.13070560
110Abnormality of the periventricular white matter (HP:0002518)2.12662177
111Recurrent cutaneous fungal infections (HP:0011370)2.12447156
112Chronic mucocutaneous candidiasis (HP:0002728)2.12447156
113Myocardial infarction (HP:0001658)2.12347124
114Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.11693144
115Esophageal varix (HP:0002040)2.11539500
116Neoplasm of the heart (HP:0100544)2.11095804
117Abnormality of the renal collecting system (HP:0004742)2.10558944
118Abnormal hair laboratory examination (HP:0003328)2.08361231
119Lower limb hyperreflexia (HP:0002395)2.07217361
120Mitral valve prolapse (HP:0001634)2.06591421
121Hematuria (HP:0000790)2.06492177
122Increased serum pyruvate (HP:0003542)2.06354407
123Cellulitis (HP:0100658)2.05438826
124Abnormal hemoglobin (HP:0011902)2.04892609
125Cupped ribs (HP:0000887)2.04599125
126Epidermoid cyst (HP:0200040)2.03472517
127Depressed nasal tip (HP:0000437)2.00830987
128Wormian bones (HP:0002645)1.99862442
129Hypoplastic labia majora (HP:0000059)1.99839861
130Hyperthyroidism (HP:0000836)1.99495114
131Neonatal death (HP:0003811)1.98809364
132Prolonged neonatal jaundice (HP:0006579)1.98321446
133Abnormality of the acetabulum (HP:0003170)1.97330164
134Alopecia of scalp (HP:0002293)1.96664077
135Long toe (HP:0010511)1.96379462
136Hydroxyprolinuria (HP:0003080)1.93919099
137Abnormality of proline metabolism (HP:0010907)1.93919099
138Shallow orbits (HP:0000586)1.93707976
139Advanced eruption of teeth (HP:0006288)1.92085572
140Hypokinesia (HP:0002375)1.91969948
141Arthralgia (HP:0002829)1.90510973
142Unilateral renal agenesis (HP:0000122)1.89875475
143Spinal rigidity (HP:0003306)1.89680386
144Abnormality of the labia majora (HP:0012881)1.89511990
145Hypercholesterolemia (HP:0003124)1.89234660
146Focal segmental glomerulosclerosis (HP:0000097)1.87824287
147Abnormality of glutamine family amino acid metabolism (HP:0010902)1.85526132
148Abnormal delivery (HP:0001787)1.84903087
149J-shaped sella turcica (HP:0002680)1.84072610
150Sensorimotor neuropathy (HP:0007141)1.83980995
151Oligodontia (HP:0000677)1.82367128
152Acrocyanosis (HP:0001063)1.82353853
153Elbow flexion contracture (HP:0002987)1.81700702
154Parakeratosis (HP:0001036)1.80604003
155Thick nail (HP:0001805)1.80132759
156Periodontitis (HP:0000704)1.79092954
157Glomerulosclerosis (HP:0000096)1.78201993
158Xanthomatosis (HP:0000991)1.76493355
159Deformed sella turcica (HP:0002681)1.74651918
160Biconcave vertebral bodies (HP:0004586)1.74037993
161Striae distensae (HP:0001065)1.73226492
162Dynein arm defect of respiratory motile cilia (HP:0012255)1.72502343
163Absent/shortened dynein arms (HP:0200106)1.72502343
164Stroke (HP:0001297)1.72335457
165Upper motor neuron abnormality (HP:0002127)1.71267490
166Slow saccadic eye movements (HP:0000514)1.71229151
167Broad face (HP:0000283)1.71079163
168Hammertoe (HP:0001765)1.70572891
169Hemoptysis (HP:0002105)1.70051117
170Increased IgM level (HP:0003496)1.69708614
171Ureteral duplication (HP:0000073)1.69026095
172Mildly elevated creatine phosphokinase (HP:0008180)1.68340891
173Pulmonary artery stenosis (HP:0004415)1.67996469
174Abnormality of pain sensation (HP:0010832)1.67506355
175Impaired pain sensation (HP:0007328)1.67506355
176Sandal gap (HP:0001852)1.67499509
177Lymphangioma (HP:0100764)1.67052428
178Coarse hair (HP:0002208)1.66425602
179Malnutrition (HP:0004395)1.66282038
180Pili torti (HP:0003777)1.65858560
181Natal tooth (HP:0000695)1.65786493
182Upper limb amyotrophy (HP:0009129)1.65411969
183Distal upper limb amyotrophy (HP:0007149)1.65411969
184Menorrhagia (HP:0000132)1.65239996
185Radial bowing (HP:0002986)1.65083723
186Peripheral hypomyelination (HP:0007182)1.64882833
187Upper limb muscle weakness (HP:0003484)1.64864705
188Agnosia (HP:0010524)1.64586898
189Tibial bowing (HP:0002982)1.64200557
190Cholelithiasis (HP:0001081)1.63471867
191Hypotrichosis (HP:0001006)1.62230518
192Blue sclerae (HP:0000592)1.61936727
193Thin skin (HP:0000963)1.60950295
194Gastrointestinal dysmotility (HP:0002579)1.60865335
195Sparse lateral eyebrow (HP:0005338)1.60225102

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN16.96878096
2BLK3.35935547
3TXK3.29231788
4ICK3.26562269
5MAP3K123.21636698
6MAP4K13.05359503
7TBK12.69853006
8TAOK32.67918462
9PDK22.59846910
10MET2.45740765
11RIPK42.44872391
12PIM22.28877032
13SIK32.22496617
14SIK12.22098043
15EPHA32.18268412
16IKBKB2.14969141
17MAP3K22.14086917
18FGFR42.05412844
19AKT32.05191419
20MAP3K111.91777381
21EIF2AK11.88663775
22MAPKAPK31.85827535
23RIPK11.84671169
24MAP3K141.84353502
25EPHA21.82780198
26SIK21.80500134
27MAP3K71.77674538
28WNK41.75786883
29ABL21.75308781
30FES1.70629017
31CDK121.69106649
32KSR21.68242574
33TIE11.67245986
34ZAP701.62292275
35MAP3K61.58789607
36NTRK21.49205257
37MYLK1.49202159
38LATS21.47953501
39KIT1.47875531
40PRKAA21.47516560
41TTK1.45621791
42PBK1.43106689
43BRSK21.42976211
44TGFBR21.41694249
45FGFR31.41629110
46WNK11.40995849
47BMX1.35447199
48RPS6KA41.31603658
49MTOR1.28885315
50NME11.27192424
51MAP3K51.26029177
52MARK31.24057305
53HCK1.23974875
54CHUK1.19800262
55JAK11.19341656
56PTK61.14485692
57IKBKE1.12283148
58DMPK1.11214029
59MAPKAPK51.10844557
60TTN1.10315668
61RPS6KB21.06050321
62NEK21.03116525
63ARAF1.00126877
64NEK60.99194409
65MAP2K10.98988410
66SYK0.98976717
67MAP3K130.98701478
68EEF2K0.98203607
69TRPM70.96966403
70IRAK30.96665071
71CDC42BPA0.95595287
72MAP2K30.95015760
73ERBB30.94243835
74STK30.93468780
75LATS10.93072398
76LYN0.91766415
77RPS6KA20.89601134
78TYK20.89534581
79PTK20.87463798
80DDR20.86623914
81YES10.86492451
82PRKAA10.86144347
83TRIB30.85360471
84RAF10.83880626
85MUSK0.80210334
86RET0.79678371
87PDGFRB0.79532607
88DAPK20.79398337
89TAOK10.76254009
90LCK0.76103348
91PAK20.75820192
92STK100.75195897
93PRKG20.74110083
94BRD40.63449929
95NME20.62596735
96IRAK40.61724172
97KSR10.60528210
98PDGFRA0.59268116
99CDK80.59068458
100MAPK110.58143784
101NEK90.57547205
102CAMK40.57027436
103NEK10.55760259
104SGK30.54314175
105PDPK10.54285492
106CDK60.51456097
107TNIK0.51391355
108JAK30.51329696
109FGR0.51069418
110MAP3K80.49701237
111CSK0.49230990
112MAP2K40.48311035
113PKN20.48271712
114JAK20.46858649
115SCYL20.46200607
116FGFR10.45922630
117PRKCH0.45853345
118MATK0.45211773
119ERBB40.45135877
120TYRO30.44204051
121MAPK30.43280158
122EGFR0.43001312
123TGFBR10.42009915
124ABL10.40380427
125ERBB20.39988290
126RPS6KA10.39786755
127DAPK30.39775900
128FLT30.39530758
129CDK10.39480113
130MAPK10.38485989
131EPHB20.37911955
132CAMK1G0.37693989
133TEC0.37479760
134CLK10.36967682
135KDR0.36897725
136PIK3CA0.35632219
137BMPR20.35613756
138FYN0.35202674
139CDK90.34388775
140MAP3K30.34114824
141FER0.34020757
142NTRK10.33799543
143MAPK100.33595821
144CAMK1D0.33272423
145PRKACG0.33200520
146INSR0.33084294
147STK380.33083812
148MAP3K10.32749100
149CHEK10.32605645
150MAP2K60.32438018
151MST1R0.32186093
152BTK0.31742067
153TNK20.30800607
154CSF1R0.30656249
155SRC0.30412633
156PRKCD0.29882105
157GRK70.29826641
158NTRK30.29727573
159PIM10.29095168
160PLK40.29026715
161MAPK120.28875428
162SGK10.28698485
163PRKD10.27503309
164EPHB10.26826408

Predicted pathways (KEGG)

RankGene SetZ-score
1Graft-versus-host disease_Homo sapiens_hsa053323.85144402
2Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.52000760
3Rheumatoid arthritis_Homo sapiens_hsa053233.20290267
4Leishmaniasis_Homo sapiens_hsa051403.16395446
5NOD-like receptor signaling pathway_Homo sapiens_hsa046213.01193064
6Toll-like receptor signaling pathway_Homo sapiens_hsa046202.95531063
7Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.51797718
8Legionellosis_Homo sapiens_hsa051342.50811036
9Type I diabetes mellitus_Homo sapiens_hsa049402.49518690
10Malaria_Homo sapiens_hsa051442.29183822
11Salmonella infection_Homo sapiens_hsa051322.28816770
12Arginine biosynthesis_Homo sapiens_hsa002202.18974127
13Cyanoamino acid metabolism_Homo sapiens_hsa004602.17563574
14NF-kappa B signaling pathway_Homo sapiens_hsa040642.10692437
15Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.10279389
16PPAR signaling pathway_Homo sapiens_hsa033202.10173681
17Allograft rejection_Homo sapiens_hsa053302.05977836
18TNF signaling pathway_Homo sapiens_hsa046682.05484758
19Osteoclast differentiation_Homo sapiens_hsa043802.05287672
20Pyruvate metabolism_Homo sapiens_hsa006202.02249427
21Tuberculosis_Homo sapiens_hsa051521.96503031
22Phenylalanine metabolism_Homo sapiens_hsa003601.96495600
23Asthma_Homo sapiens_hsa053101.95318460
24Fatty acid biosynthesis_Homo sapiens_hsa000611.92807269
25Pertussis_Homo sapiens_hsa051331.78665145
26Fructose and mannose metabolism_Homo sapiens_hsa000511.78435876
27Fat digestion and absorption_Homo sapiens_hsa049751.75869759
28Primary bile acid biosynthesis_Homo sapiens_hsa001201.72829813
29African trypanosomiasis_Homo sapiens_hsa051431.70526006
30Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.66983246
31Phagosome_Homo sapiens_hsa041451.64226823
32Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.60934709
33Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.54703819
34Glycerolipid metabolism_Homo sapiens_hsa005611.54567136
35Influenza A_Homo sapiens_hsa051641.53317107
36One carbon pool by folate_Homo sapiens_hsa006701.51865251
37ABC transporters_Homo sapiens_hsa020101.51707069
38Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.50032875
39Measles_Homo sapiens_hsa051621.45270231
402-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.43878695
41Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.42527865
42RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.38905068
43Adherens junction_Homo sapiens_hsa045201.36297326
44Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.35083795
45Tyrosine metabolism_Homo sapiens_hsa003501.34861791
46Histidine metabolism_Homo sapiens_hsa003401.33675262
47Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.33143310
48Hematopoietic cell lineage_Homo sapiens_hsa046401.32563853
49Biosynthesis of amino acids_Homo sapiens_hsa012301.31544228
50Fatty acid metabolism_Homo sapiens_hsa012121.29894155
51Retinol metabolism_Homo sapiens_hsa008301.29512496
52Chemokine signaling pathway_Homo sapiens_hsa040621.28958789
53Steroid hormone biosynthesis_Homo sapiens_hsa001401.27828407
54Type II diabetes mellitus_Homo sapiens_hsa049301.26343287
55Fatty acid degradation_Homo sapiens_hsa000711.25581983
56Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.24361302
57Mineral absorption_Homo sapiens_hsa049781.24026257
58Lysine degradation_Homo sapiens_hsa003101.23831442
59Lysosome_Homo sapiens_hsa041421.23376468
60Amoebiasis_Homo sapiens_hsa051461.22507039
61Protein digestion and absorption_Homo sapiens_hsa049741.22133329
62Ovarian steroidogenesis_Homo sapiens_hsa049131.19277665
63Vitamin digestion and absorption_Homo sapiens_hsa049771.17564790
64Toxoplasmosis_Homo sapiens_hsa051451.14796650
65Carbon metabolism_Homo sapiens_hsa012001.14375890
66Collecting duct acid secretion_Homo sapiens_hsa049661.14205469
67Renin-angiotensin system_Homo sapiens_hsa046141.12611392
68Starch and sucrose metabolism_Homo sapiens_hsa005001.09353206
69Other glycan degradation_Homo sapiens_hsa005111.07370495
70Pentose and glucuronate interconversions_Homo sapiens_hsa000401.04897571
71AMPK signaling pathway_Homo sapiens_hsa041521.04832898
72B cell receptor signaling pathway_Homo sapiens_hsa046621.03578756
73Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.01865203
74AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.99957937
75Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.96834180
76Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.96426773
77Thyroid hormone synthesis_Homo sapiens_hsa049180.93993961
78Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.93851634
79Central carbon metabolism in cancer_Homo sapiens_hsa052300.92385130
80Herpes simplex infection_Homo sapiens_hsa051680.91496319
81Thyroid cancer_Homo sapiens_hsa052160.90112240
82Adipocytokine signaling pathway_Homo sapiens_hsa049200.89647917
83Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.87758120
84Hepatitis B_Homo sapiens_hsa051610.87271925
85Shigellosis_Homo sapiens_hsa051310.87215479
86Galactose metabolism_Homo sapiens_hsa000520.86338438
87Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.85913643
88Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.83704272
89Caffeine metabolism_Homo sapiens_hsa002320.83288575
90Bile secretion_Homo sapiens_hsa049760.82073464
91Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.81777543
92Hepatitis C_Homo sapiens_hsa051600.81446384
93Staphylococcus aureus infection_Homo sapiens_hsa051500.80841535
94Insulin resistance_Homo sapiens_hsa049310.80315506
95Propanoate metabolism_Homo sapiens_hsa006400.79861772
96Platelet activation_Homo sapiens_hsa046110.79463664
97T cell receptor signaling pathway_Homo sapiens_hsa046600.77034745
98Arginine and proline metabolism_Homo sapiens_hsa003300.76228845
99Chronic myeloid leukemia_Homo sapiens_hsa052200.75395910
100Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.73492907
101Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.73466330
102Neurotrophin signaling pathway_Homo sapiens_hsa047220.73216526
103Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.72055820
104Proteoglycans in cancer_Homo sapiens_hsa052050.71787955
105Apoptosis_Homo sapiens_hsa042100.71593687
106Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.68537986
107Synaptic vesicle cycle_Homo sapiens_hsa047210.66745567
108Antigen processing and presentation_Homo sapiens_hsa046120.66742200
109Jak-STAT signaling pathway_Homo sapiens_hsa046300.64875973
110Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.64521671
111Pentose phosphate pathway_Homo sapiens_hsa000300.63242898
112Choline metabolism in cancer_Homo sapiens_hsa052310.63062464
113HIF-1 signaling pathway_Homo sapiens_hsa040660.62393472
114Chemical carcinogenesis_Homo sapiens_hsa052040.62338418
115Prion diseases_Homo sapiens_hsa050200.61158814
116Glycerophospholipid metabolism_Homo sapiens_hsa005640.60906102
117PI3K-Akt signaling pathway_Homo sapiens_hsa041510.60790258
118Viral myocarditis_Homo sapiens_hsa054160.59589584
119Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.59475821
120Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.58882048
121Leukocyte transendothelial migration_Homo sapiens_hsa046700.58376614
122Bladder cancer_Homo sapiens_hsa052190.55907355
123Steroid biosynthesis_Homo sapiens_hsa001000.54977599
124Glycosaminoglycan degradation_Homo sapiens_hsa005310.53315886
125Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.52355316
126Renal cell carcinoma_Homo sapiens_hsa052110.52031194
127Vibrio cholerae infection_Homo sapiens_hsa051100.50007181
128Intestinal immune network for IgA production_Homo sapiens_hsa046720.49145393
129Vascular smooth muscle contraction_Homo sapiens_hsa042700.48963846
130Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.48127523
131Drug metabolism - other enzymes_Homo sapiens_hsa009830.47966802
132Aldosterone synthesis and secretion_Homo sapiens_hsa049250.47118152
133Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.47021136
134mTOR signaling pathway_Homo sapiens_hsa041500.46931181
135VEGF signaling pathway_Homo sapiens_hsa043700.46248378
136Prolactin signaling pathway_Homo sapiens_hsa049170.46092634
137Complement and coagulation cascades_Homo sapiens_hsa046100.45912281
138Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.44607827
139N-Glycan biosynthesis_Homo sapiens_hsa005100.43860298
140Circadian rhythm_Homo sapiens_hsa047100.43716472
141Tryptophan metabolism_Homo sapiens_hsa003800.42687658
142Thyroid hormone signaling pathway_Homo sapiens_hsa049190.42245399
143ECM-receptor interaction_Homo sapiens_hsa045120.41893816
144Regulation of actin cytoskeleton_Homo sapiens_hsa048100.41188350
145Glioma_Homo sapiens_hsa052140.39461503
146Focal adhesion_Homo sapiens_hsa045100.38478388
147Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.38327870
148Glucagon signaling pathway_Homo sapiens_hsa049220.38310477
149Acute myeloid leukemia_Homo sapiens_hsa052210.38209324
150Glutathione metabolism_Homo sapiens_hsa004800.37856558
151Maturity onset diabetes of the young_Homo sapiens_hsa049500.36353568
152GnRH signaling pathway_Homo sapiens_hsa049120.36069766
153MAPK signaling pathway_Homo sapiens_hsa040100.35992865
154Carbohydrate digestion and absorption_Homo sapiens_hsa049730.35620461
155Dilated cardiomyopathy_Homo sapiens_hsa054140.35170981
156MicroRNAs in cancer_Homo sapiens_hsa052060.33439991
157* GABAergic synapse_Homo sapiens_hsa047270.32817219
158Dorso-ventral axis formation_Homo sapiens_hsa043200.32319700
159ErbB signaling pathway_Homo sapiens_hsa040120.31905776
160Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.30909718
161Pancreatic cancer_Homo sapiens_hsa052120.28933796
162Small cell lung cancer_Homo sapiens_hsa052220.28861697
163Melanoma_Homo sapiens_hsa052180.28816487
164Cocaine addiction_Homo sapiens_hsa050300.27791665
165Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.27706295
166* Morphine addiction_Homo sapiens_hsa050320.27008728
167Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.26010230
168Prostate cancer_Homo sapiens_hsa052150.25671533
169Phospholipase D signaling pathway_Homo sapiens_hsa040720.24716574
170TGF-beta signaling pathway_Homo sapiens_hsa043500.23410550
171Rap1 signaling pathway_Homo sapiens_hsa040150.23358378
172Insulin signaling pathway_Homo sapiens_hsa049100.23284435
173Estrogen signaling pathway_Homo sapiens_hsa049150.23006454

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