CHRNA2

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: Nicotinic acetylcholine receptors (nAChRs) are ligand-gated ion channels formed by a pentameric arrangement of alpha and beta subunits to create distinct muscle and neuronal receptors. Neuronal receptors are found throughout the peripheral and central nervous system where they are involved in fast synaptic transmission. This gene encodes an alpha subunit that is widely expressed in the brain. The proposed structure for nAChR subunits is a conserved N-terminal extracellular domain followed by three conserved transmembrane domains, a variable cytoplasmic loop, a fourth conserved transmembrane domain, and a short C-terminal extracellular region. Mutations in this gene cause autosomal dominant nocturnal frontal lobe epilepsy type 4. Single nucleotide polymorphisms (SNPs) in this gene have been associated with nicotine dependence. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)5.83814419
2L-phenylalanine catabolic process (GO:0006559)5.83814419
3triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.78294227
4indole-containing compound catabolic process (GO:0042436)5.77311008
5indolalkylamine catabolic process (GO:0046218)5.77311008
6tryptophan catabolic process (GO:0006569)5.77311008
7tryptophan metabolic process (GO:0006568)5.73382817
8aromatic amino acid family catabolic process (GO:0009074)5.72776055
9L-phenylalanine metabolic process (GO:0006558)5.43396464
10erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)5.43396464
11alpha-linolenic acid metabolic process (GO:0036109)5.29648119
12kynurenine metabolic process (GO:0070189)5.20547965
13fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.95858933
14high-density lipoprotein particle remodeling (GO:0034375)4.95747040
15complement activation, alternative pathway (GO:0006957)4.87478539
16bile acid biosynthetic process (GO:0006699)4.83682514
17thrombin receptor signaling pathway (GO:0070493)4.83279413
18protein neddylation (GO:0045116)4.69625183
19urea metabolic process (GO:0019627)4.62716717
20urea cycle (GO:0000050)4.62716717
21reverse cholesterol transport (GO:0043691)4.61568781
22regulation of triglyceride catabolic process (GO:0010896)4.49959591
23regulation of protein activation cascade (GO:2000257)4.49761718
24regulation of Golgi to plasma membrane protein transport (GO:0042996)4.47726309
25glyoxylate metabolic process (GO:0046487)4.45893916
26phospholipid efflux (GO:0033700)4.44823165
27regulation of cholesterol esterification (GO:0010872)4.44278003
28protein-lipid complex remodeling (GO:0034368)4.39937795
29macromolecular complex remodeling (GO:0034367)4.39937795
30plasma lipoprotein particle remodeling (GO:0034369)4.39937795
31cellular biogenic amine catabolic process (GO:0042402)4.38639460
32amine catabolic process (GO:0009310)4.38639460
33indolalkylamine metabolic process (GO:0006586)4.33878470
34tyrosine metabolic process (GO:0006570)4.32580697
35synaptic vesicle docking involved in exocytosis (GO:0016081)4.31722579
36peptidyl-glutamic acid carboxylation (GO:0017187)4.28433990
37protein carboxylation (GO:0018214)4.28433990
38regulation of complement activation (GO:0030449)4.25033951
39amino-acid betaine metabolic process (GO:0006577)4.17447068
40aromatic amino acid family metabolic process (GO:0009072)4.12310732
41synaptic vesicle maturation (GO:0016188)4.11941171
42nitrogen cycle metabolic process (GO:0071941)4.09734527
43bile acid metabolic process (GO:0008206)4.07617749
44positive regulation of steroid hormone secretion (GO:2000833)4.05811441
45sulfur amino acid catabolic process (GO:0000098)4.04708851
46detection of bacterium (GO:0016045)4.04339029
47plasma lipoprotein particle clearance (GO:0034381)4.03998217
48triglyceride homeostasis (GO:0070328)3.99620432
49acylglycerol homeostasis (GO:0055090)3.99620432
50cholesterol efflux (GO:0033344)3.94738452
51low-density lipoprotein particle remodeling (GO:0034374)3.94307555
52cellular ketone body metabolic process (GO:0046950)3.92652879
53regulation of short-term neuronal synaptic plasticity (GO:0048172)3.92622394
54regulation of fibrinolysis (GO:0051917)3.89665033
55negative regulation of fibrinolysis (GO:0051918)3.86677366
56coenzyme catabolic process (GO:0009109)3.85737342
57cellular glucuronidation (GO:0052695)3.80679346
58branching involved in prostate gland morphogenesis (GO:0060442)3.77619581
59phospholipid homeostasis (GO:0055091)3.76998737
60dicarboxylic acid biosynthetic process (GO:0043650)3.74068851
61detection of other organism (GO:0098543)3.73697020
62regulation of integrin-mediated signaling pathway (GO:2001044)3.73587969
63adenosine metabolic process (GO:0046085)3.69828470
64negative regulation of sterol transport (GO:0032372)3.67487770
65negative regulation of cholesterol transport (GO:0032375)3.67487770
66linoleic acid metabolic process (GO:0043651)3.67159359
67NAD biosynthetic process (GO:0009435)3.62440537
68plasma lipoprotein particle assembly (GO:0034377)3.61503913
69negative regulation of lipase activity (GO:0060192)3.61253473
70alpha-amino acid catabolic process (GO:1901606)3.59578330
71cytolysis (GO:0019835)3.58995209
72regulation of platelet aggregation (GO:0090330)3.56757998
73behavioral response to cocaine (GO:0048148)3.56241825
74regulation of sensory perception of pain (GO:0051930)3.55812924
75regulation of sensory perception (GO:0051931)3.55812924
76homocysteine metabolic process (GO:0050667)3.54559376
77positive regulation of neurotransmitter secretion (GO:0001956)3.52508180
78plasma lipoprotein particle organization (GO:0071827)3.52191811
79carnitine metabolic process (GO:0009437)3.51551412
80nicotinamide nucleotide biosynthetic process (GO:0019359)3.49082732
81pyridine nucleotide biosynthetic process (GO:0019363)3.49082732
82very-low-density lipoprotein particle assembly (GO:0034379)3.47316494
83positive regulation of cellular amide metabolic process (GO:0034250)3.47165388
84positive regulation of lipid catabolic process (GO:0050996)3.44938547
85serine family amino acid catabolic process (GO:0009071)3.44018195
86beta-amyloid metabolic process (GO:0050435)3.44005622
87adaptation of signaling pathway (GO:0023058)3.40247053
88bile acid and bile salt transport (GO:0015721)3.38650575
89glucuronate metabolic process (GO:0019585)3.36595569
90uronic acid metabolic process (GO:0006063)3.36595569
91positive regulation of lipoprotein lipase activity (GO:0051006)3.35484813
92positive regulation of triglyceride lipase activity (GO:0061365)3.35484813
93positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.33924437
94ketone body metabolic process (GO:1902224)3.33730371
95cysteine metabolic process (GO:0006534)3.33347287
96negative regulation of norepinephrine secretion (GO:0010700)3.32785061
97killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.30029820
98disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.30029820
99complement activation (GO:0006956)3.29821722
100complement activation, classical pathway (GO:0006958)3.29411922
101cofactor catabolic process (GO:0051187)3.28971230
102cellular amino acid catabolic process (GO:0009063)3.28892010
103negative regulation of heart rate (GO:0010459)3.26087923
104negative regulation of fatty acid biosynthetic process (GO:0045717)3.24205752
105fatty acid beta-oxidation (GO:0006635)3.23206295
106benzene-containing compound metabolic process (GO:0042537)3.22735862
107lysine catabolic process (GO:0006554)3.22546321
108lysine metabolic process (GO:0006553)3.22546321
109protein activation cascade (GO:0072376)3.22214384
110aldehyde catabolic process (GO:0046185)3.21587507
111protein-lipid complex subunit organization (GO:0071825)3.21057685
112blood coagulation, intrinsic pathway (GO:0007597)3.20480982
113regulation of female receptivity (GO:0045924)3.20258157
114arginine metabolic process (GO:0006525)3.16651321
115fibrinolysis (GO:0042730)3.15941899
116regulation of platelet activation (GO:0010543)3.13483593
117imidazole-containing compound metabolic process (GO:0052803)3.13255821
118long-chain fatty acid biosynthetic process (GO:0042759)3.12346771
119fatty acid oxidation (GO:0019395)3.10936726
120lipid oxidation (GO:0034440)3.09480055
121cellular modified amino acid catabolic process (GO:0042219)3.07912278
122positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)3.07642152
123protein-lipid complex assembly (GO:0065005)3.06849350
124monocarboxylic acid catabolic process (GO:0072329)3.05618028
125auditory receptor cell differentiation (GO:0042491)3.00899141
126negative regulation of protein localization to cell surface (GO:2000009)3.00566635
127biotin metabolic process (GO:0006768)2.99272091
128neutrophil activation involved in immune response (GO:0002283)2.96385206
129regulation of lipoprotein metabolic process (GO:0050746)2.93286830
130leukocyte migration involved in inflammatory response (GO:0002523)2.92187527
131DNA methylation involved in gamete generation (GO:0043046)2.90063957
132positive regulation of neurotransmitter transport (GO:0051590)2.88378552
133polyamine biosynthetic process (GO:0006596)2.86732761
134vesicle docking involved in exocytosis (GO:0006904)2.85127059
135dopamine transport (GO:0015872)2.84748485
136long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)2.84662159
137regulation of norepinephrine secretion (GO:0014061)2.83458041
138regulation of response to food (GO:0032095)2.82026089
139negative regulation of response to food (GO:0032096)2.80878943
140negative regulation of appetite (GO:0032099)2.80878943
141pharyngeal system development (GO:0060037)2.79401066
142negative regulation of catecholamine secretion (GO:0033604)2.76916745
143purinergic nucleotide receptor signaling pathway (GO:0035590)2.75716913
144positive regulation of mast cell activation (GO:0033005)2.74806103
145cellular biogenic amine biosynthetic process (GO:0042401)2.73694768
146negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.73369386
147relaxation of smooth muscle (GO:0044557)2.72389137
148termination of G-protein coupled receptor signaling pathway (GO:0038032)2.70129597
149positive regulation of systemic arterial blood pressure (GO:0003084)2.69334193
150long-chain fatty-acyl-CoA metabolic process (GO:0035336)2.68244913
151serotonin metabolic process (GO:0042428)2.66495859
152calcium ion import (GO:0070509)2.63770790
153termination of signal transduction (GO:0023021)2.62628246
154lipoxygenase pathway (GO:0019372)2.62215587
155positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.61775208
156negative regulation of platelet activation (GO:0010544)2.61588324
157membrane depolarization during action potential (GO:0086010)2.60292643
158peptidyl-tyrosine autophosphorylation (GO:0038083)2.60029473
159amine biosynthetic process (GO:0009309)2.59856595
160regulation of synaptic vesicle exocytosis (GO:2000300)2.58925510
161regulation of steroid hormone secretion (GO:2000831)2.58474797
162regulation of clathrin-mediated endocytosis (GO:2000369)2.57868353
163positive regulation of cellular amine metabolic process (GO:0033240)2.57696620
164negative regulation of homotypic cell-cell adhesion (GO:0034111)2.57576843
165adenosine receptor signaling pathway (GO:0001973)2.57329159
166positive regulation of cAMP-mediated signaling (GO:0043950)2.55752468
167tachykinin receptor signaling pathway (GO:0007217)2.55530552
168calcium-mediated signaling using intracellular calcium source (GO:0035584)2.54685332
169G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.53939713
170import into cell (GO:0098657)2.53554974
171behavioral response to nicotine (GO:0035095)2.53001614
172fatty-acyl-CoA biosynthetic process (GO:0046949)2.50766075
173negative regulation of heart contraction (GO:0045822)2.50242980
174membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.50011641
175monoamine transport (GO:0015844)2.49412250
176female mating behavior (GO:0060180)2.48012613
177fusion of sperm to egg plasma membrane (GO:0007342)2.47107901
178mitotic cell cycle arrest (GO:0071850)2.46218992
179detection of temperature stimulus (GO:0016048)2.45102707
180piRNA metabolic process (GO:0034587)2.44832324
181fatty-acyl-CoA metabolic process (GO:0035337)2.42868749
182detection of light stimulus involved in visual perception (GO:0050908)2.42515990
183detection of light stimulus involved in sensory perception (GO:0050962)2.42515990
184neuronal action potential propagation (GO:0019227)2.42334472
185platelet aggregation (GO:0070527)2.41800339
186phosphatidylinositol acyl-chain remodeling (GO:0036149)2.38432669
187regulation of glutamate secretion (GO:0014048)2.37860864
188fatty acid transmembrane transport (GO:1902001)2.35583653
189regulation of voltage-gated calcium channel activity (GO:1901385)2.35016644
190vesicle docking (GO:0048278)2.34250752
191regulation of memory T cell differentiation (GO:0043380)2.32376274
192artery development (GO:0060840)2.32198487
193positive regulation of inositol phosphate biosynthetic process (GO:0060732)2.31264788

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse7.15750712
2RXR_22158963_ChIP-Seq_LIVER_Mouse5.47683969
3EGR1_23403033_ChIP-Seq_LIVER_Mouse5.45873974
4EZH2_22144423_ChIP-Seq_EOC_Human5.10700097
5* PPARA_22158963_ChIP-Seq_LIVER_Mouse4.58321297
6* LXR_22158963_ChIP-Seq_LIVER_Mouse4.43534202
7FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.55017602
8CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.19890433
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.08201197
10CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.97243689
11GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.87045813
12IRF8_22096565_ChIP-ChIP_GC-B_Human2.68815982
13SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human2.66178460
14PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.62754204
15IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.44988178
16CDX2_19796622_ChIP-Seq_MESCs_Mouse2.32664412
17GBX2_23144817_ChIP-Seq_PC3_Human2.32062911
18IGF1R_20145208_ChIP-Seq_DFB_Human2.28930767
19GATA1_22025678_ChIP-Seq_K562_Human2.21822640
20BP1_19119308_ChIP-ChIP_Hs578T_Human2.17531922
21DROSHA_22980978_ChIP-Seq_HELA_Human2.10068957
22SCL_19346495_ChIP-Seq_HPC-7_Human2.02972614
23Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.97627812
24FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.95633311
25STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.89214678
26LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.88655067
27VDR_22108803_ChIP-Seq_LS180_Human1.81775765
28IRF8_21731497_ChIP-ChIP_J774_Mouse1.79583302
29IKZF1_21737484_ChIP-ChIP_HCT116_Human1.75405520
30GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.73391568
31TAF15_26573619_Chip-Seq_HEK293_Human1.65866007
32TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.61552971
33REST_21632747_ChIP-Seq_MESCs_Mouse1.53425785
34NFE2_27457419_Chip-Seq_LIVER_Mouse1.53126241
35SUZ12_27294783_Chip-Seq_NPCs_Mouse1.52765133
36HTT_18923047_ChIP-ChIP_STHdh_Human1.48331279
37* AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.47777572
38IRF8_27001747_Chip-Seq_BMDM_Mouse1.47547957
39BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.42761222
40STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.41911210
41IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.39574281
42ZFP57_27257070_Chip-Seq_ESCs_Mouse1.37974156
43NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.35695814
44EZH2_27294783_Chip-Seq_NPCs_Mouse1.35205930
45RUNX1_27457419_Chip-Seq_LIVER_Mouse1.35057222
46PCGF2_27294783_Chip-Seq_NPCs_Mouse1.34754398
47POU3F2_20337985_ChIP-ChIP_501MEL_Human1.34504130
48OCT1_27270436_Chip-Seq_PROSTATE_Human1.32506174
49NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.31310382
50NRF2_20460467_ChIP-Seq_MEFs_Mouse1.31310382
51SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.30448827
52CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.30186463
53GATA1_19941826_ChIP-Seq_K562_Human1.28931088
54SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.28630762
55FOXA2_19822575_ChIP-Seq_HepG2_Human1.27614807
56SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.27061557
57SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.27032746
58AR_21572438_ChIP-Seq_LNCaP_Human1.26754106
59EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.25919214
60* FOXA1_25552417_ChIP-Seq_VCAP_Human1.25055560
61PIAS1_25552417_ChIP-Seq_VCAP_Human1.23461212
62CTBP2_25329375_ChIP-Seq_LNCAP_Human1.23281440
63SUZ12_18555785_Chip-Seq_ESCs_Mouse1.22389720
64P53_22387025_ChIP-Seq_ESCs_Mouse1.22195155
65PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.22024794
66* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.21559361
67PCGF2_27294783_Chip-Seq_ESCs_Mouse1.20893481
68PRDM14_20953172_ChIP-Seq_ESCs_Human1.20424307
69STAT3_18555785_Chip-Seq_ESCs_Mouse1.19658106
70GATA2_19941826_ChIP-Seq_K562_Human1.18942028
71P300_19829295_ChIP-Seq_ESCs_Human1.18927717
72EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.18871664
73VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.18481379
74* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.18416218
75SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.18048673
76ER_23166858_ChIP-Seq_MCF-7_Human1.17549769
77GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.17174169
78ARNT_22903824_ChIP-Seq_MCF-7_Human1.16251678
79PU1_27457419_Chip-Seq_LIVER_Mouse1.16177236
80GATA1_19941827_ChIP-Seq_MEL_Mouse1.15785933
81E2F1_18555785_Chip-Seq_ESCs_Mouse1.14785112
82RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.14192312
83SMAD1_18555785_Chip-Seq_ESCs_Mouse1.14185212
84MTF2_20144788_ChIP-Seq_MESCs_Mouse1.13162330
85OCT4_18555785_Chip-Seq_ESCs_Mouse1.12448248
86TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.11743658
87REST_18959480_ChIP-ChIP_MESCs_Mouse1.11445014
88TCF4_18268006_ChIP-ChIP_LS174T_Human1.11249220
89BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.11012584
90FLI1_27457419_Chip-Seq_LIVER_Mouse1.10289515
91P300_18555785_Chip-Seq_ESCs_Mouse1.10271769
92CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.09366648
93TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.09247346
94NMYC_18555785_Chip-Seq_ESCs_Mouse1.08613294
95* TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.08557952
96EZH2_27294783_Chip-Seq_ESCs_Mouse1.07714850
97TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.07658297
98RNF2_27304074_Chip-Seq_NSC_Mouse1.07310900
99NANOG_18555785_Chip-Seq_ESCs_Mouse1.06704501
100SOX2_18555785_Chip-Seq_ESCs_Mouse1.06606381
101CMYC_18555785_Chip-Seq_ESCs_Mouse1.06358420
102ZFX_18555785_Chip-Seq_ESCs_Mouse1.05302124
103ESRRB_18555785_Chip-Seq_ESCs_Mouse1.04696208
104LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.04202497
105OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.04170447
106TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04054594
107* RUNX2_22187159_ChIP-Seq_PCA_Human1.03308131
108FOXM1_26456572_ChIP-Seq_MCF-7_Human1.03228762
109SMAD4_21799915_ChIP-Seq_A2780_Human1.02865236
110NR3C1_21868756_ChIP-Seq_MCF10A_Human1.01034394
111TP53_22573176_ChIP-Seq_HFKS_Human1.00518521
112SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.99999701
113OCT4_21477851_ChIP-Seq_ESCs_Mouse0.99522080
114GATA1_19941827_ChIP-Seq_MEL86_Mouse0.99375315
115SMAD_19615063_ChIP-ChIP_OVARY_Human0.99365583
116SOX2_21211035_ChIP-Seq_LN229_Gbm0.99123199
117CTCF_18555785_Chip-Seq_ESCs_Mouse0.98587826
118GATA3_21878914_ChIP-Seq_MCF-7_Human0.98194745
119PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.97187483
120CRX_20693478_ChIP-Seq_RETINA_Mouse0.97105862
121ESR1_20079471_ChIP-ChIP_T-47D_Human0.96689993
122NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.96490964
123SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.95196589
124* HNF4A_19822575_ChIP-Seq_HepG2_Human0.94466708
125SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.93576633
126KLF4_18555785_Chip-Seq_ESCs_Mouse0.92612475
127ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.92596830
128HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.92474835
129AR_20517297_ChIP-Seq_VCAP_Human0.92145962
130JARID2_20064375_ChIP-Seq_MESCs_Mouse0.91434987
131RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.91024596
132* VDR_24787735_ChIP-Seq_THP-1_Human0.90711534
133CTNNB1_20460455_ChIP-Seq_HCT116_Human0.90507671
134AR_25329375_ChIP-Seq_VCAP_Human0.90199725
135* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.88974623
136PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.88764385
137AR_19668381_ChIP-Seq_PC3_Human0.88030783
138* ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.87796325
139STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.87681617
140GATA2_21666600_ChIP-Seq_HMVEC_Human0.87012143
141LMO2_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.86760122
142HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.86712190
143ELK4_26923725_Chip-Seq_MESODERM_Mouse0.86092133
144KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.85958610
145TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.85794378
146AHR_22903824_ChIP-Seq_MCF-7_Human0.85727866
147CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.85073258
148MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.84683104
149TCF4_22108803_ChIP-Seq_LS180_Human0.84671090
150SPI1_23127762_ChIP-Seq_K562_Human0.84408101
151RXR_22108803_ChIP-Seq_LS180_Human0.82555668
152CTBP1_25329375_ChIP-Seq_LNCAP_Human0.81153589
153MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.80922121
154TCF4_23295773_ChIP-Seq_U87_Human0.79223615
155CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.79028883
156STAT3_23295773_ChIP-Seq_U87_Human0.75468466
157ZNF217_24962896_ChIP-Seq_MCF-7_Human0.75340095
158POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.74572723
159TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.74572723
160SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.74281470
161IRF1_19129219_ChIP-ChIP_H3396_Human0.74157149
162BCAT_22108803_ChIP-Seq_LS180_Human0.73526711
163TP53_18474530_ChIP-ChIP_U2OS_Human0.72779612
164STAT1_17558387_ChIP-Seq_HELA_Human0.72577516

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.71969869
2MP0005085_abnormal_gallbladder_physiolo5.88507693
3MP0005360_urolithiasis5.80565986
4MP0005365_abnormal_bile_salt5.72080219
5MP0008875_abnormal_xenobiotic_pharmacok3.70959963
6MP0003252_abnormal_bile_duct3.60014675
7MP0010329_abnormal_lipoprotein_level3.37755962
8MP0005645_abnormal_hypothalamus_physiol3.28796122
9MP0001968_abnormal_touch/_nociception3.26992709
10MP0002876_abnormal_thyroid_physiology3.19189820
11MP0003806_abnormal_nucleotide_metabolis3.10014817
12MP0009697_abnormal_copulation2.98371184
13MP0003879_abnormal_hair_cell2.88634590
14MP0008004_abnormal_stomach_pH2.80164430
15MP0002735_abnormal_chemical_nociception2.76284425
16MP0006276_abnormal_autonomic_nervous2.72321259
17MP0005167_abnormal_blood-brain_barrier2.69860991
18MP0009840_abnormal_foam_cell2.66079893
19MP0005310_abnormal_salivary_gland2.62007374
20MP0003191_abnormal_cellular_cholesterol2.44795459
21MP0003195_calcinosis2.38312201
22MP0001501_abnormal_sleep_pattern2.37531797
23MP0002822_catalepsy2.32708645
24MP0004510_myositis2.20192004
25MP0005332_abnormal_amino_acid2.19248295
26MP0001666_abnormal_nutrient_absorption2.18572992
27MP0000230_abnormal_systemic_arterial2.06382846
28MP0004859_abnormal_synaptic_plasticity2.06063761
29MP0002733_abnormal_thermal_nociception2.05290903
30MP0002138_abnormal_hepatobiliary_system2.04694390
31MP0000609_abnormal_liver_physiology2.03130009
32MP0005551_abnormal_eye_electrophysiolog2.01195987
33MP0005083_abnormal_biliary_tract1.97039235
34MP0002118_abnormal_lipid_homeostasis1.96906560
35MP0001764_abnormal_homeostasis1.95371167
36MP0003880_abnormal_central_pattern1.93951665
37MP0008961_abnormal_basal_metabolism1.93156247
38MP0001970_abnormal_pain_threshold1.88269047
39MP0002272_abnormal_nervous_system1.87950072
40MP0005646_abnormal_pituitary_gland1.76884947
41MP0001486_abnormal_startle_reflex1.74758243
42MP0001485_abnormal_pinna_reflex1.74564168
43MP0009745_abnormal_behavioral_response1.72203372
44MP0003868_abnormal_feces_composition1.71534524
45MP0001664_abnormal_digestion1.70042960
46MP0004145_abnormal_muscle_electrophysio1.69280348
47* MP0003635_abnormal_synaptic_transmissio1.68188494
48MP0009046_muscle_twitch1.67211786
49MP0005319_abnormal_enzyme/_coenzyme1.63696171
50MP0008872_abnormal_physiological_respon1.61086513
51MP0001765_abnormal_ion_homeostasis1.56794613
52MP0002063_abnormal_learning/memory/cond1.53901034
53MP0004019_abnormal_vitamin_homeostasis1.52317586
54MP0002557_abnormal_social/conspecific_i1.51011564
55MP0005647_abnormal_sex_gland1.50469825
56MP0009764_decreased_sensitivity_to1.49213946
57MP0008775_abnormal_heart_ventricle1.49094198
58MP0002064_seizures1.48308589
59MP0005670_abnormal_white_adipose1.47936508
60MP0002572_abnormal_emotion/affect_behav1.44862061
61MP0004036_abnormal_muscle_relaxation1.41866027
62MP0001835_abnormal_antigen_presentation1.40684939
63MP0002067_abnormal_sensory_capabilities1.39401304
64MP0000569_abnormal_digit_pigmentation1.37622919
65MP0002234_abnormal_pharynx_morphology1.34194258
66MP0001756_abnormal_urination1.33202889
67MP0003787_abnormal_imprinting1.32269512
68MP0005584_abnormal_enzyme/coenzyme_acti1.32269353
69MP0003690_abnormal_glial_cell1.29600799
70MP0010386_abnormal_urinary_bladder1.27021747
71MP0003186_abnormal_redox_activity1.26872726
72MP0002909_abnormal_adrenal_gland1.24260665
73MP0003656_abnormal_erythrocyte_physiolo1.24008711
74MP0002166_altered_tumor_susceptibility1.21887439
75MP0004085_abnormal_heartbeat1.21401336
76MP0004270_analgesia1.21337655
77MP0002254_reproductive_system_inflammat1.19007736
78MP0004084_abnormal_cardiac_muscle1.17198920
79MP0003633_abnormal_nervous_system1.17025972
80MP0009780_abnormal_chondrocyte_physiolo1.16664416
81MP0008469_abnormal_protein_level1.15058040
82MP0003436_decreased_susceptibility_to1.14344060
83MP0000631_abnormal_neuroendocrine_gland1.13965303
84MP0004147_increased_porphyrin_level1.13762139
85MP0005451_abnormal_body_composition1.13548832
86MP0002734_abnormal_mechanical_nocicepti1.10994086
87MP0009785_altered_susceptibility_to1.10919667
88MP0002419_abnormal_innate_immunity1.10888011
89MP0005253_abnormal_eye_physiology1.10842033
90MP0002693_abnormal_pancreas_physiology1.06019074
91MP0005220_abnormal_exocrine_pancreas1.04141904
92MP0002090_abnormal_vision1.03963354
93MP0009763_increased_sensitivity_to1.03296347
94MP0005410_abnormal_fertilization1.02428307
95MP0002653_abnormal_ependyma_morphology1.02129830
96MP0003122_maternal_imprinting0.99286307
97MP0004043_abnormal_pH_regulation0.98862043
98MP0004130_abnormal_muscle_cell0.97819224
99MP0001853_heart_inflammation0.96778814
100MP0000598_abnormal_liver_morphology0.95178183
101MP0000465_gastrointestinal_hemorrhage0.94682981
102MP0005535_abnormal_body_temperature0.93228331
103MP0005464_abnormal_platelet_physiology0.93090341
104MP0001984_abnormal_olfaction0.91756287
105MP0003045_fibrosis0.91377553
106MP0003638_abnormal_response/metabolism_0.91233671
107MP0002229_neurodegeneration0.90635631
108MP0005334_abnormal_fat_pad0.87996062
109MP0002837_dystrophic_cardiac_calcinosis0.87457003
110MP0009765_abnormal_xenobiotic_induced0.86627468
111MP0003631_nervous_system_phenotype0.85331749
112MP0006082_CNS_inflammation0.85037064
113MP0009642_abnormal_blood_homeostasis0.84636016
114MP0001790_abnormal_immune_system0.84600460
115MP0005387_immune_system_phenotype0.84600460
116MP0002009_preneoplasia0.84404253
117MP0009643_abnormal_urine_homeostasis0.84162041
118MP0008877_abnormal_DNA_methylation0.83292371
119MP0004142_abnormal_muscle_tone0.83077244
120MP0005376_homeostasis/metabolism_phenot0.82027167
121MP0002638_abnormal_pupillary_reflex0.81220071
122MP0003183_abnormal_peptide_metabolism0.80654731
123MP0005166_decreased_susceptibility_to0.79394603
124MP0002102_abnormal_ear_morphology0.78698011
125MP0004742_abnormal_vestibular_system0.77279278
126MP0002928_abnormal_bile_duct0.76865768
127MP0002148_abnormal_hypersensitivity_rea0.76059183
128MP0002078_abnormal_glucose_homeostasis0.75117774
129MP0005423_abnormal_somatic_nervous0.74353620
130MP0001502_abnormal_circadian_rhythm0.73643554
131MP0000015_abnormal_ear_pigmentation0.73582297
132MP0000604_amyloidosis0.73014247
133MP0001905_abnormal_dopamine_level0.70908122
134MP0002132_abnormal_respiratory_system0.70869083
135MP0006036_abnormal_mitochondrial_physio0.70560572
136MP0000372_irregular_coat_pigmentation0.70525217
137MP0005025_abnormal_response_to0.70460139
138MP0003950_abnormal_plasma_membrane0.70145181
139MP0002069_abnormal_eating/drinking_beha0.69363954
140MP0006072_abnormal_retinal_apoptosis0.69322889
141MP0005058_abnormal_lysosome_morphology0.68102291
142MP0001963_abnormal_hearing_physiology0.67600772
143MP0004782_abnormal_surfactant_physiolog0.67191619
144MP0000681_abnormal_thyroid_gland0.66801892
145MP0005448_abnormal_energy_balance0.66764129
146MP0001845_abnormal_inflammatory_respons0.66674426
147MP0003698_abnormal_male_reproductive0.66190486
148MP0004811_abnormal_neuron_physiology0.66028702
149MP0001879_abnormal_lymphatic_vessel0.65914092
150MP0005671_abnormal_response_to0.65545870
151MP0003011_delayed_dark_adaptation0.65205296
152MP0000371_diluted_coat_color0.65159429
153MP0003718_maternal_effect0.64999480
154MP0002971_abnormal_brown_adipose0.64384946
155MP0001663_abnormal_digestive_system0.63483010
156MP0000516_abnormal_urinary_system0.62907763
157MP0005367_renal/urinary_system_phenotyp0.62907763
158MP0003724_increased_susceptibility_to0.62473034
159MP0004883_abnormal_blood_vessel0.61689332
160MP0004381_abnormal_hair_follicle0.60646429
161MP0005171_absent_coat_pigmentation0.60473244
162MP0003075_altered_response_to0.60328818
163MP0001800_abnormal_humoral_immune0.59519058
164MP0005636_abnormal_mineral_homeostasis0.55741406
165MP0001661_extended_life_span0.55739327
166MP0008260_abnormal_autophagy0.54989014
167MP0005164_abnormal_response_to0.54391316
168MP0003943_abnormal_hepatobiliary_system0.53901653
169MP0002452_abnormal_antigen_presenting0.51627624
170MP0005075_abnormal_melanosome_morpholog0.51414260
171MP0005408_hypopigmentation0.51254716
172MP0000427_abnormal_hair_cycle0.49700533
173MP0003953_abnormal_hormone_level0.49148263
174MP0003172_abnormal_lysosome_physiology0.48975846
175MP0002723_abnormal_immune_serum0.48804726
176MP0005187_abnormal_penis_morphology0.46239332
177MP0009115_abnormal_fat_cell0.45894124
178MP0002736_abnormal_nociception_after0.45076394
179MP0005666_abnormal_adipose_tissue0.43374469

Predicted human phenotypes

RankGene SetZ-score
1Prolonged bleeding time (HP:0003010)7.46621175
2Increased mean platelet volume (HP:0011877)7.04488145
3Abnormal platelet volume (HP:0011876)6.44313506
4Petechiae (HP:0000967)6.15991966
5Intrahepatic cholestasis (HP:0001406)5.92292959
6Prolonged partial thromboplastin time (HP:0003645)5.84067213
7Purpura (HP:0000979)5.48419964
8Abnormality of aromatic amino acid family metabolism (HP:0004338)5.48232250
9Deep venous thrombosis (HP:0002625)5.33719879
10Complement deficiency (HP:0004431)5.33196974
11Xanthomatosis (HP:0000991)5.23531259
12Hyperlipoproteinemia (HP:0010980)4.97171520
13Abnormality of monocarboxylic acid metabolism (HP:0010996)4.90457069
14Recurrent gram-negative bacterial infections (HP:0005420)4.76979159
15Hypobetalipoproteinemia (HP:0003563)4.74178422
16Joint hemorrhage (HP:0005261)4.60631106
17Epistaxis (HP:0000421)4.57262922
18Myokymia (HP:0002411)4.33124113
19Epidermoid cyst (HP:0200040)4.03527399
20Conjugated hyperbilirubinemia (HP:0002908)3.94068186
21Abnormality of complement system (HP:0005339)3.87192487
22Hypolipoproteinemia (HP:0010981)3.69675826
23Gaze-evoked nystagmus (HP:0000640)3.69056650
24Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.64753765
25Hyperammonemia (HP:0001987)3.63116207
26Hypoglycemic coma (HP:0001325)3.61953634
27Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.56647561
28Decreased central vision (HP:0007663)3.53877909
29Abnormality of the common coagulation pathway (HP:0010990)3.53510027
30Hypoalphalipoproteinemia (HP:0003233)3.48564887
31Systemic lupus erythematosus (HP:0002725)3.48492670
32Abnormality of the intrinsic pathway (HP:0010989)3.43948029
33Fat malabsorption (HP:0002630)3.41775760
34Ketosis (HP:0001946)3.41304840
35Short 1st metacarpal (HP:0010034)3.39294721
36Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)3.39294721
37Abnormality of methionine metabolism (HP:0010901)3.37284079
38Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.37152646
39Abnormality of sulfur amino acid metabolism (HP:0004339)3.35629623
40Abnormality of fatty-acid metabolism (HP:0004359)3.33151490
41Impaired platelet aggregation (HP:0003540)3.31689773
42Abnormal platelet function (HP:0011869)3.31689773
43Febrile seizures (HP:0002373)3.31582504
44Abnormality of pyrimidine metabolism (HP:0004353)3.26162702
45Genetic anticipation (HP:0003743)3.24592262
46Abnormality of the 1st metacarpal (HP:0010009)3.24020694
47Abnormality of aspartate family amino acid metabolism (HP:0010899)3.18502558
48Hypochromic microcytic anemia (HP:0004840)3.16431676
49Renal cortical cysts (HP:0000803)3.14243710
50Poikilocytosis (HP:0004447)3.11646682
51Progressive cerebellar ataxia (HP:0002073)3.10754929
52Dyschromatopsia (HP:0007641)3.04917645
53Abnormality of glutamine family amino acid metabolism (HP:0010902)3.03979177
54Arthropathy (HP:0003040)3.01170082
55Sensorimotor neuropathy (HP:0007141)3.00782923
56Hyperglycinemia (HP:0002154)2.97974120
57Hypoglycemic seizures (HP:0002173)2.95597528
58Hyperglycinuria (HP:0003108)2.85906659
59Hypercholesterolemia (HP:0003124)2.84550935
60Acanthocytosis (HP:0001927)2.83013335
61Short phalanx of the thumb (HP:0009660)2.82650461
62Steatorrhea (HP:0002570)2.78632056
63Abnormal auditory evoked potentials (HP:0006958)2.71433943
64Focal seizures (HP:0007359)2.71425688
65Enlarged kidneys (HP:0000105)2.67340829
66Abnormality of serine family amino acid metabolism (HP:0010894)2.67333624
67Abnormality of glycine metabolism (HP:0010895)2.67333624
68Focal motor seizures (HP:0011153)2.66431304
69Clumsiness (HP:0002312)2.65793809
70Hyperventilation (HP:0002883)2.58519522
71Amelogenesis imperfecta (HP:0000705)2.57387166
72Ketoacidosis (HP:0001993)2.56188140
73Abnormality of nucleobase metabolism (HP:0010932)2.55563157
74Myocardial infarction (HP:0001658)2.54922364
75Fair hair (HP:0002286)2.53628860
76Hyperbilirubinemia (HP:0002904)2.51742622
77Metabolic acidosis (HP:0001942)2.49926972
78Vascular calcification (HP:0004934)2.48771252
79Abnormal biliary tract physiology (HP:0012439)2.48196359
80Bile duct proliferation (HP:0001408)2.48196359
81Neonatal hypoglycemia (HP:0001998)2.47700250
82Mitral stenosis (HP:0001718)2.47407512
83Spontaneous hematomas (HP:0007420)2.43875772
84Neoplasm of the heart (HP:0100544)2.38416051
85Gingival bleeding (HP:0000225)2.37908615
86Abnormality of serum amino acid levels (HP:0003112)2.37297008
87Hepatocellular carcinoma (HP:0001402)2.30903292
88Hypophosphatemic rickets (HP:0004912)2.30278040
89Central scotoma (HP:0000603)2.29065208
90Attenuation of retinal blood vessels (HP:0007843)2.27991420
91Congenital stationary night blindness (HP:0007642)2.25512559
92Skin nodule (HP:0200036)2.25402951
93Abnormality of purine metabolism (HP:0004352)2.20263384
94Aplasia/Hypoplasia of the phalanges of the thumb (HP:0009658)2.17174220
95Pancreatitis (HP:0001733)2.16529968
96Polyphagia (HP:0002591)2.16370205
97Bruising susceptibility (HP:0000978)2.16082437
98Hemorrhage of the eye (HP:0011885)2.15278857
99Urinary bladder sphincter dysfunction (HP:0002839)2.14552269
100Impaired vibratory sensation (HP:0002495)2.14368356
101Epileptiform EEG discharges (HP:0011182)2.14044348
102Hypomagnesemia (HP:0002917)2.13653530
103Glomerulonephritis (HP:0000099)2.13428559
104Amyloidosis (HP:0011034)2.11677825
105Symptomatic seizures (HP:0011145)2.11282611
106EEG with generalized epileptiform discharges (HP:0011198)2.11144772
107Bony spicule pigmentary retinopathy (HP:0007737)2.11133917
108Cardiovascular calcification (HP:0011915)2.09422654
109Proximal tubulopathy (HP:0000114)2.04972753
110Hypsarrhythmia (HP:0002521)2.04259657
111Choroideremia (HP:0001139)2.03888779
112Upper motor neuron abnormality (HP:0002127)2.02264496
113Hypoplasia of the thymus (HP:0000778)2.01840873
114Pigmentary retinal degeneration (HP:0001146)2.01331400
115Abnormality of dicarboxylic acid metabolism (HP:0010995)2.01080990
116Dicarboxylic aciduria (HP:0003215)2.01080990
117Generalized aminoaciduria (HP:0002909)2.00979304
118Recurrent bacterial skin infections (HP:0005406)2.00573556
119Dialeptic seizures (HP:0011146)1.99639453
120Thrombophlebitis (HP:0004418)1.98079025
121Abnormality of the heme biosynthetic pathway (HP:0010472)1.97340449
122Opisthotonus (HP:0002179)1.96045038
123Osteomalacia (HP:0002749)1.95411104
124Tented upper lip vermilion (HP:0010804)1.94311303
125Delayed CNS myelination (HP:0002188)1.91998020
126Alveolar cell carcinoma (HP:0006519)1.91321115
127Submucous cleft hard palate (HP:0000176)1.90758179
128Retrobulbar optic neuritis (HP:0100654)1.90649776
129Optic neuritis (HP:0100653)1.90649776
130Decreased circulating renin level (HP:0003351)1.90132507
131Type II lissencephaly (HP:0007260)1.90030410
132Abnormality of binocular vision (HP:0011514)1.89891697
133Diplopia (HP:0000651)1.89891697
134Medial flaring of the eyebrow (HP:0010747)1.89527642
135Poor eye contact (HP:0000817)1.88583196
136Abnormal drinking behavior (HP:0030082)1.88033339
137Polydipsia (HP:0001959)1.88033339
138Testicular neoplasm (HP:0010788)1.87549673
139Thyroid-stimulating hormone excess (HP:0002925)1.87519474
140Elevated alkaline phosphatase (HP:0003155)1.85367604
141Absent speech (HP:0001344)1.85328405
142Orchitis (HP:0100796)1.85094049
143Pulmonary embolism (HP:0002204)1.85028912
144Rickets (HP:0002748)1.84558928
145Elevated hepatic transaminases (HP:0002910)1.84124587
146Abnormal enzyme/coenzyme activity (HP:0012379)1.83308432
147Abnormal ciliary motility (HP:0012262)1.83042722
148Generalized hypopigmentation of hair (HP:0011358)1.82353539
149Acute hepatic failure (HP:0006554)1.81812403
150Joint swelling (HP:0001386)1.81569705
151Spontaneous abortion (HP:0005268)1.80343130
152Abnormal gallbladder physiology (HP:0012438)1.78641486
153Cholecystitis (HP:0001082)1.78641486
154Epileptic encephalopathy (HP:0200134)1.77788284
155Hyperthyroidism (HP:0000836)1.77261536
156Brushfield spots (HP:0001088)1.77018409
157Atonic seizures (HP:0010819)1.75489003
158Lethargy (HP:0001254)1.75397058
159Septate vagina (HP:0001153)1.74442856
160Abnormality of the renal cortex (HP:0011035)1.73353109
161Abnormal gallbladder morphology (HP:0012437)1.73331222
162Ventricular fibrillation (HP:0001663)1.72440328
163Abnormal pupillary function (HP:0007686)1.72421158
164Absence seizures (HP:0002121)1.71617700
165Menorrhagia (HP:0000132)1.70394241
166Keratoconjunctivitis sicca (HP:0001097)1.69341791
167Delayed puberty (HP:0000823)1.68891211
168Gait imbalance (HP:0002141)1.68508735
169Broad-based gait (HP:0002136)1.67890110
170Dynein arm defect of respiratory motile cilia (HP:0012255)1.65873201
171Absent/shortened dynein arms (HP:0200106)1.65873201
172Abnormality of ocular smooth pursuit (HP:0000617)1.65555915
173Abnormality of secondary sexual hair (HP:0009888)1.65414011
174Abnormality of the axillary hair (HP:0100134)1.65414011
175Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.65312041
176Abnormality of alanine metabolism (HP:0010916)1.65312041
177Hyperalaninemia (HP:0003348)1.65312041
178Metabolic alkalosis (HP:0200114)1.64636353
179Visual hallucinations (HP:0002367)1.64306246
180Impaired smooth pursuit (HP:0007772)1.64279074
181Congenital sensorineural hearing impairment (HP:0008527)1.63089546
182Abnormality of magnesium homeostasis (HP:0004921)1.60824938
183Increased circulating renin level (HP:0000848)1.57654421
184Insidious onset (HP:0003587)1.55294123
185Termporal pattern (HP:0011008)1.55294123
186Calf muscle hypertrophy (HP:0008981)1.55163228
187Intellectual disability, profound (HP:0002187)1.54948022
188Agitation (HP:0000713)1.54744384
189Abolished electroretinogram (ERG) (HP:0000550)1.53806696
190Congenital primary aphakia (HP:0007707)1.53760327

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CAMK1G4.85672809
2TAOK13.49536524
3BCKDK3.39805136
4INSRR3.29149997
5MAP3K143.18833009
6TNK23.14976991
7IRAK32.96101704
8CASK2.68878053
9IRAK42.50658305
10FRK2.45920989
11SIK32.14274482
12ERN11.99189679
13FGFR41.97476888
14SIK11.96373706
15TXK1.96290040
16ACVR1B1.95999335
17TYK21.93604039
18FER1.86493875
19SGK21.77878218
20PRKD21.73054087
21NEK91.72172174
22PRKD31.71049479
23TAOK31.69576946
24TBK11.64337537
25YES11.62708317
26CAMK11.61543571
27MARK21.59345370
28TNIK1.49665362
29FGFR21.46859235
30BMPR21.43826920
31BMX1.43685146
32PTK2B1.40891484
33PRPF4B1.40531572
34SGK31.37904836
35TRPM71.37817997
36TAOK21.37574615
37MAP2K41.35833943
38MAP2K31.34978121
39GRK51.34218904
40IKBKE1.33171249
41JAK11.31534266
42NUAK11.31431811
43NTRK31.26584677
44FGFR31.26405477
45MAPK71.25136428
46MINK11.24295324
47MAP2K71.23732576
48FLT31.23197205
49PIK3CG1.21996270
50MAP3K41.18980260
51PAK31.17981659
52ERBB31.17114037
53MYLK1.17042676
54IKBKB1.15476068
55ERBB41.12283080
56ZAK1.09447042
57EPHA41.08849685
58TEC1.07814315
59BMPR1B1.06815297
60KIT0.99844419
61MST40.99098576
62EPHA30.96376082
63AKT30.95906610
64RIPK40.95695907
65MAP2K60.95276389
66CSK0.92533630
67MAPK110.90788104
68OBSCN0.90568686
69SGK2230.89236979
70SGK4940.89236979
71MAP3K30.88442949
72MARK30.87665044
73PRKCI0.87627315
74EIF2AK20.87113466
75CAMKK20.86915454
76CDK60.83557774
77MELK0.82786395
78CSF1R0.82304748
79NLK0.82103114
80JAK20.81555192
81PIM20.81385643
82MAPK120.80695447
83ARAF0.79776546
84TGFBR20.78560348
85CHUK0.78262144
86PRKAA20.75541787
87WNK40.75395000
88PDK10.72882586
89IRAK10.71920550
90EIF2AK10.71211819
91LYN0.68418788
92PRKCQ0.65476998
93PNCK0.64542131
94SYK0.62497217
95DAPK30.61730185
96PASK0.60845552
97CAMKK10.60189627
98MAP3K110.59888077
99PRKCG0.59787104
100PRKAA10.58664140
101PRKD10.58543709
102MAPK40.58396781
103MAP4K10.57780701
104BTK0.57552570
105MAP3K50.56600308
106PRKCE0.55971092
107IGF1R0.54962947
108JAK30.53564728
109PRKCZ0.53096403
110ILK0.52708186
111IRAK20.52364698
112KSR10.51796694
113MAP4K20.51743676
114ADRBK10.50931338
115MAP3K70.50762761
116MARK10.50492761
117TLK10.50350740
118WNK30.50199876
119DAPK20.49812019
120ADRBK20.49799075
121PLK20.49365393
122PINK10.48889430
123PHKG10.48436485
124PHKG20.48436485
125SGK10.48200894
126ERBB20.48184543
127DAPK10.47669114
128PDPK10.46863501
129PIM10.45586124
130MAPKAPK30.45376135
131LMTK20.44858833
132ITK0.44343414
133GRK70.44202105
134CAMK1D0.43616218
135STK30.43609630
136STK390.43554458
137STK38L0.42749811
138STK100.42531173
139GRK10.42513996
140STK110.42422627
141BLK0.41513390
142MAP3K120.41045081
143PKN10.41038963
144MAPK130.40842699
145STK240.40529319
146HIPK20.40123732
147HCK0.39309105
148FGR0.37694659
149CDK30.36918020
150PRKACG0.36323231
151TIE10.36175946
152RET0.36133027
153CDK80.36100714
154PRKCA0.33756272
155CAMK2A0.33628625
156SIK20.33414307
157DYRK1A0.32538764
158PRKACA0.32412832
159PRKG10.31585066
160CAMK40.30484502

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.34608515
2Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010403.01052784
3Platelet activation_Homo sapiens_hsa046113.00786486
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.96521186
5Fatty acid degradation_Homo sapiens_hsa000712.88488704
6Complement and coagulation cascades_Homo sapiens_hsa046102.83620904
7Tryptophan metabolism_Homo sapiens_hsa003802.68121490
8Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.60119778
9Peroxisome_Homo sapiens_hsa041462.57012514
10Arginine biosynthesis_Homo sapiens_hsa002202.39473922
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.37991340
12Staphylococcus aureus infection_Homo sapiens_hsa051502.37247802
13Fatty acid metabolism_Homo sapiens_hsa012122.29991383
14Nicotine addiction_Homo sapiens_hsa050332.28710479
15Nitrogen metabolism_Homo sapiens_hsa009102.25414980
16Serotonergic synapse_Homo sapiens_hsa047262.24240933
17Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.21540216
18PPAR signaling pathway_Homo sapiens_hsa033202.19012343
19Circadian entrainment_Homo sapiens_hsa047132.12911324
20Morphine addiction_Homo sapiens_hsa050322.10976305
21Pentose and glucuronate interconversions_Homo sapiens_hsa000402.09034967
22Vascular smooth muscle contraction_Homo sapiens_hsa042702.06967880
23Propanoate metabolism_Homo sapiens_hsa006402.06703840
24Butanoate metabolism_Homo sapiens_hsa006502.05567247
25beta-Alanine metabolism_Homo sapiens_hsa004102.04060018
26Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.03645880
27GABAergic synapse_Homo sapiens_hsa047271.91798646
28Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.91592364
29Steroid hormone biosynthesis_Homo sapiens_hsa001401.87765046
30Glutamatergic synapse_Homo sapiens_hsa047241.86537941
31Synaptic vesicle cycle_Homo sapiens_hsa047211.84496950
32Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.82689489
33Long-term depression_Homo sapiens_hsa047301.82510501
34Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.80585854
35Insulin secretion_Homo sapiens_hsa049111.77589056
36Histidine metabolism_Homo sapiens_hsa003401.73297635
37Retinol metabolism_Homo sapiens_hsa008301.73122396
38Chemical carcinogenesis_Homo sapiens_hsa052041.66514038
39Olfactory transduction_Homo sapiens_hsa047401.66507928
40Cholinergic synapse_Homo sapiens_hsa047251.66235827
41Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.62652314
42Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.60992652
43Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.60014112
44SNARE interactions in vesicular transport_Homo sapiens_hsa041301.59789683
45Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.59422370
46Salivary secretion_Homo sapiens_hsa049701.58750526
47Renin-angiotensin system_Homo sapiens_hsa046141.55944347
48Phototransduction_Homo sapiens_hsa047441.55922056
49Fatty acid elongation_Homo sapiens_hsa000621.54797075
50Collecting duct acid secretion_Homo sapiens_hsa049661.48024997
51Renin secretion_Homo sapiens_hsa049241.46175257
52Aldosterone synthesis and secretion_Homo sapiens_hsa049251.44163012
53Gastric acid secretion_Homo sapiens_hsa049711.43648650
54ABC transporters_Homo sapiens_hsa020101.41872974
55Gap junction_Homo sapiens_hsa045401.39016689
56Dopaminergic synapse_Homo sapiens_hsa047281.37302385
57Sulfur metabolism_Homo sapiens_hsa009201.36998880
58Phenylalanine metabolism_Homo sapiens_hsa003601.36265784
59Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.35318481
60Drug metabolism - other enzymes_Homo sapiens_hsa009831.34649013
61Tyrosine metabolism_Homo sapiens_hsa003501.30216564
62Starch and sucrose metabolism_Homo sapiens_hsa005001.29963835
63Pyruvate metabolism_Homo sapiens_hsa006201.27472624
64Pancreatic secretion_Homo sapiens_hsa049721.26963007
65Calcium signaling pathway_Homo sapiens_hsa040201.23900889
66Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.22411286
67Bile secretion_Homo sapiens_hsa049761.21330102
68Oxytocin signaling pathway_Homo sapiens_hsa049211.19613700
69Taste transduction_Homo sapiens_hsa047421.19348301
70Amphetamine addiction_Homo sapiens_hsa050311.16173074
71Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.13680375
72* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.11013755
73Selenocompound metabolism_Homo sapiens_hsa004501.10536064
74Folate biosynthesis_Homo sapiens_hsa007901.09743500
75Steroid biosynthesis_Homo sapiens_hsa001001.09488826
76Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.08683832
77Lysine degradation_Homo sapiens_hsa003101.04787840
78Vitamin digestion and absorption_Homo sapiens_hsa049771.03646916
79Fatty acid biosynthesis_Homo sapiens_hsa000611.02805521
80cGMP-PKG signaling pathway_Homo sapiens_hsa040221.02374138
81Caffeine metabolism_Homo sapiens_hsa002321.02344230
822-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.01769376
83Vitamin B6 metabolism_Homo sapiens_hsa007501.01421922
84cAMP signaling pathway_Homo sapiens_hsa040240.93995333
85Long-term potentiation_Homo sapiens_hsa047200.91769808
86Autoimmune thyroid disease_Homo sapiens_hsa053200.90773579
87Fat digestion and absorption_Homo sapiens_hsa049750.89509725
88Alcoholism_Homo sapiens_hsa050340.88470084
89Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.88359015
90Thyroid hormone synthesis_Homo sapiens_hsa049180.88305727
91Carbon metabolism_Homo sapiens_hsa012000.88057750
92Choline metabolism in cancer_Homo sapiens_hsa052310.85972995
93Phosphatidylinositol signaling system_Homo sapiens_hsa040700.82790501
94Cocaine addiction_Homo sapiens_hsa050300.81919252
95Cysteine and methionine metabolism_Homo sapiens_hsa002700.80822813
96Phospholipase D signaling pathway_Homo sapiens_hsa040720.77525850
97Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.75182599
98Mineral absorption_Homo sapiens_hsa049780.73891771
99Glycerolipid metabolism_Homo sapiens_hsa005610.73482846
100Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.73344307
101ECM-receptor interaction_Homo sapiens_hsa045120.69525328
102Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.69286474
103AMPK signaling pathway_Homo sapiens_hsa041520.68278054
104alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.67975994
105Sulfur relay system_Homo sapiens_hsa041220.67416996
106Arginine and proline metabolism_Homo sapiens_hsa003300.65206865
107Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.61991725
108Maturity onset diabetes of the young_Homo sapiens_hsa049500.59491339
109Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.58867894
110Prostate cancer_Homo sapiens_hsa052150.58136784
111GnRH signaling pathway_Homo sapiens_hsa049120.57954042
112Biosynthesis of amino acids_Homo sapiens_hsa012300.57447052
113One carbon pool by folate_Homo sapiens_hsa006700.56932295
114Ovarian steroidogenesis_Homo sapiens_hsa049130.56827503
115Chemokine signaling pathway_Homo sapiens_hsa040620.56525446
116Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.54772688
117Sphingolipid metabolism_Homo sapiens_hsa006000.53468503
118Intestinal immune network for IgA production_Homo sapiens_hsa046720.52698611
119Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.52147398
120Adipocytokine signaling pathway_Homo sapiens_hsa049200.51859274
121Transcriptional misregulation in cancer_Homo sapiens_hsa052020.50410764
122Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.46793220
123Regulation of autophagy_Homo sapiens_hsa041400.44915201
124Carbohydrate digestion and absorption_Homo sapiens_hsa049730.44855417
125Longevity regulating pathway - mammal_Homo sapiens_hsa042110.44441909
126NOD-like receptor signaling pathway_Homo sapiens_hsa046210.44421553
127Rap1 signaling pathway_Homo sapiens_hsa040150.43531048
128Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.42961485
129Linoleic acid metabolism_Homo sapiens_hsa005910.41425019
130Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.40771781
131NF-kappa B signaling pathway_Homo sapiens_hsa040640.40613285
132Hematopoietic cell lineage_Homo sapiens_hsa046400.40197195
133Endocytosis_Homo sapiens_hsa041440.39357481
134Estrogen signaling pathway_Homo sapiens_hsa049150.39259040
135Metabolic pathways_Homo sapiens_hsa011000.37872312
136Toll-like receptor signaling pathway_Homo sapiens_hsa046200.37114538
137Dilated cardiomyopathy_Homo sapiens_hsa054140.36917459
138Ras signaling pathway_Homo sapiens_hsa040140.36899642
139Glycerophospholipid metabolism_Homo sapiens_hsa005640.36563031
140Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.35352521
141Glioma_Homo sapiens_hsa052140.34485723
142African trypanosomiasis_Homo sapiens_hsa051430.33648088
143Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.33115557
144Prion diseases_Homo sapiens_hsa050200.32770236
145MAPK signaling pathway_Homo sapiens_hsa040100.31724050
146Arachidonic acid metabolism_Homo sapiens_hsa005900.30949059
147Insulin resistance_Homo sapiens_hsa049310.26920413
148RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.24265145
149Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.24154549
150Ether lipid metabolism_Homo sapiens_hsa005650.23996798
151Fructose and mannose metabolism_Homo sapiens_hsa000510.22466315
152Allograft rejection_Homo sapiens_hsa053300.22082622
153Leishmaniasis_Homo sapiens_hsa051400.21202317
154Pertussis_Homo sapiens_hsa051330.18568119
155Glutathione metabolism_Homo sapiens_hsa004800.17577162
156Graft-versus-host disease_Homo sapiens_hsa053320.16935258
157Type II diabetes mellitus_Homo sapiens_hsa049300.16623955
158Legionellosis_Homo sapiens_hsa051340.13591713
159Rheumatoid arthritis_Homo sapiens_hsa053230.12307818
160Hepatitis C_Homo sapiens_hsa051600.11966410
161Glucagon signaling pathway_Homo sapiens_hsa049220.11770481
162Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.10186791
163Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.09771378
164Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.09081212
165TNF signaling pathway_Homo sapiens_hsa046680.08304915
166Galactose metabolism_Homo sapiens_hsa000520.07051670
167Pentose phosphate pathway_Homo sapiens_hsa000300.03645895

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