GABRR2

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: Gamma-aminobutyric acid (GABA) is the major inhibitory neurotransmitter in the mammalian brain where it acts at GABA receptors, which are ligand-gated chloride channels. The protein encoded by this gene is a member of the rho subunit family and is a component of the GABA type A receptor complex. This gene exists on chromosome 6q next to the gene encoding the rho 1 subunit of the GABA type A receptor, in a region thought to be associated with susceptibility for psychiatric disorders and epilepsy. Polymorphisms in this gene may also be associated with alcohol dependence, and general cognitive ability. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of cytosolic calcium ion concentration (GO:0051481)9.28211882
2retinal rod cell development (GO:0046548)8.33719112
3cellular potassium ion homeostasis (GO:0030007)8.30003012
4G-protein coupled glutamate receptor signaling pathway (GO:0007216)8.12011101
5relaxation of smooth muscle (GO:0044557)8.05192760
6sodium ion export (GO:0071436)7.50499293
7positive regulation of synapse maturation (GO:0090129)7.49197267
8response to pheromone (GO:0019236)7.47990190
9potassium ion homeostasis (GO:0055075)7.01286832
10urinary tract smooth muscle contraction (GO:0014848)6.77702357
11synaptic vesicle exocytosis (GO:0016079)6.05810674
12detection of molecule of bacterial origin (GO:0032490)5.92575393
13regulation of synapse maturation (GO:0090128)5.88440739
14cell communication by electrical coupling involved in cardiac conduction (GO:0086064)5.75910207
15positive regulation by symbiont of host defense response (GO:0052509)5.65915899
16modulation by symbiont of host defense response (GO:0052031)5.65915899
17modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.65915899
18modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.65915899
19positive regulation by organism of defense response of other organism involved in symbiotic interact5.65915899
20modulation by symbiont of host immune response (GO:0052553)5.65915899
21synaptic vesicle endocytosis (GO:0048488)5.34416831
22mating behavior (GO:0007617)5.18440074
23positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)5.13061695
24positive regulation of gamma-delta T cell activation (GO:0046645)5.00574456
25cellular sodium ion homeostasis (GO:0006883)4.98230112
26regulation of interferon-beta biosynthetic process (GO:0045357)4.93796643
27macrophage activation involved in immune response (GO:0002281)4.90346433
28positive regulation of dendritic spine morphogenesis (GO:0061003)4.89904675
29cell communication by electrical coupling (GO:0010644)4.84110028
30leukotriene biosynthetic process (GO:0019370)4.78261768
31response to peptidoglycan (GO:0032494)4.78061285
32iron coordination entity transport (GO:1901678)4.71320499
33neurotransmitter-gated ion channel clustering (GO:0072578)4.64823780
34protein localization to synapse (GO:0035418)4.58169451
35regulation of synaptic vesicle exocytosis (GO:2000300)4.47329617
36potassium ion export (GO:0071435)4.42956477
37antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.41649754
38retinal cone cell development (GO:0046549)4.31369804
39innervation (GO:0060384)4.19530093
40negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.19027158
41negative regulation of cell killing (GO:0031342)4.19027158
42substrate-independent telencephalic tangential migration (GO:0021826)4.18296862
43substrate-independent telencephalic tangential interneuron migration (GO:0021843)4.18296862
44detection of external biotic stimulus (GO:0098581)4.16301994
45leukotriene metabolic process (GO:0006691)4.14843544
46calcium ion import (GO:0070509)4.05693979
47detection of temperature stimulus involved in sensory perception of pain (GO:0050965)4.00603903
48detection of temperature stimulus involved in sensory perception (GO:0050961)4.00603903
49regulation of nitric-oxide synthase biosynthetic process (GO:0051769)3.99509107
50regulation of B cell receptor signaling pathway (GO:0050855)3.93100853
51striatum development (GO:0021756)3.92510634
52cellular extravasation (GO:0045123)3.90927528
53macrophage activation (GO:0042116)3.82918898
54synaptic vesicle transport (GO:0048489)3.80349426
55establishment of synaptic vesicle localization (GO:0097480)3.80349426
56glycolytic process (GO:0006096)3.79148686
57NIK/NF-kappaB signaling (GO:0038061)3.77438109
58neutrophil activation involved in immune response (GO:0002283)3.76377958
59negative regulation of interleukin-12 production (GO:0032695)3.75366298
60positive regulation of TOR signaling (GO:0032008)3.75129453
61positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.73500992
62germinal center formation (GO:0002467)3.72637447
63positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.69143258
64positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.67749871
65synaptic vesicle maturation (GO:0016188)3.67567329
66microglial cell activation (GO:0001774)3.66075657
67negative regulation of myotube differentiation (GO:0010832)3.65833640
68axon cargo transport (GO:0008088)3.65067069
69membrane depolarization during action potential (GO:0086010)3.64538494
70regulation of synaptic transmission, glutamatergic (GO:0051966)3.62994391
71layer formation in cerebral cortex (GO:0021819)3.62676025
72* gamma-aminobutyric acid signaling pathway (GO:0007214)3.61806767
73glutamate receptor signaling pathway (GO:0007215)3.60371976
74regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.60043321
75anterograde axon cargo transport (GO:0008089)3.59223904
76positive regulation of gastrulation (GO:2000543)3.59126851
77eye photoreceptor cell development (GO:0042462)3.59087152
78response to host defenses (GO:0052200)3.58470587
79response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.58470587
80response to host (GO:0075136)3.58470587
81nitric oxide mediated signal transduction (GO:0007263)3.57850189
82antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.57335627
83detection of biotic stimulus (GO:0009595)3.53608496
84detection of other organism (GO:0098543)3.51578151
85photoreceptor cell development (GO:0042461)3.51213409
86peristalsis (GO:0030432)3.51154355
87positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.50524054
88response to acidic pH (GO:0010447)3.49848202
89detection of temperature stimulus (GO:0016048)3.49721915
90response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.48972039
91response to host immune response (GO:0052572)3.48972039
92membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.48951502
93B cell receptor signaling pathway (GO:0050853)3.48621430
94protein-chromophore linkage (GO:0018298)3.47627625
95regulation of gamma-delta T cell activation (GO:0046643)3.46963006
96defense response to protozoan (GO:0042832)3.45366043
97prepulse inhibition (GO:0060134)3.42463473
98positive regulation of calcium ion import (GO:0090280)3.42242709
99antigen processing and presentation of endogenous antigen (GO:0019883)3.41521209
100regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.39941431
101response to muramyl dipeptide (GO:0032495)3.39075446
102regulation of dopamine uptake involved in synaptic transmission (GO:0051584)3.37157755
103regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)3.37157755
104regulation of synaptic vesicle transport (GO:1902803)3.32368940
105negative regulation of circadian rhythm (GO:0042754)3.32045145
106long term synaptic depression (GO:0060292)3.32001979
107antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.31016129
108myeloid cell activation involved in immune response (GO:0002275)3.30965651
109positive regulation of potassium ion transmembrane transport (GO:1901381)3.29822505
110phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)3.28995181
111leukocyte migration involved in inflammatory response (GO:0002523)3.27638469
112negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.27617777
113negative regulation of T-helper cell differentiation (GO:0045623)3.27617777
114peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.26994226
115negative regulation of lymphocyte mediated immunity (GO:0002707)3.24198671
116regulation of macrophage cytokine production (GO:0010935)3.21359297
117cGMP biosynthetic process (GO:0006182)3.20514140
118negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.19323347
119regulation of transforming growth factor beta2 production (GO:0032909)3.19114220
120regulation of necroptotic process (GO:0060544)3.18784443
121pyrimidine dimer repair (GO:0006290)3.17493847
122positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)3.16281582
123regulation of mast cell degranulation (GO:0043304)3.15897732
124regulation of short-term neuronal synaptic plasticity (GO:0048172)3.14195689
125regulation of neurotransmitter secretion (GO:0046928)3.11974811
126neutrophil mediated immunity (GO:0002446)3.11500831
127lipopolysaccharide-mediated signaling pathway (GO:0031663)3.10879830
128regulation of glucocorticoid secretion (GO:2000849)3.09296339
129positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.07854318
130membrane hyperpolarization (GO:0060081)3.06932710
131regulation of neurotransmitter transport (GO:0051588)3.06720708
132regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.05694117
133lactate metabolic process (GO:0006089)3.04982287
134regulation of mast cell activation (GO:0033003)3.04225058
135positive regulation of interferon-alpha production (GO:0032727)3.04051709
136neutrophil activation (GO:0042119)3.04017440
137negative regulation of T cell mediated immunity (GO:0002710)3.03321043
138photoreceptor cell maintenance (GO:0045494)3.02962216
139atrial cardiac muscle cell action potential (GO:0086014)3.02217415
140positive regulation of potassium ion transport (GO:0043268)3.00729673
141regulation of voltage-gated calcium channel activity (GO:1901385)3.00495215
142regulation of mast cell activation involved in immune response (GO:0033006)2.99947197
143membrane repolarization (GO:0086009)2.98775732
144sodium ion homeostasis (GO:0055078)2.97747613
145I-kappaB phosphorylation (GO:0007252)2.97695849
146synapse assembly (GO:0007416)2.97580279
147positive regulation of mitochondrial membrane permeability involved in apoptotic process (GO:19021102.96270877
148mitochondrial outer membrane permeabilization involved in programmed cell death (GO:1902686)2.96270877
149cell communication involved in cardiac conduction (GO:0086065)2.96258254
150relaxation of muscle (GO:0090075)2.95953531
151response to protozoan (GO:0001562)2.95769719
152response to interleukin-15 (GO:0070672)2.95388813
153negative regulation of interleukin-6 production (GO:0032715)2.93598807
154regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.93463079
155negative regulation of erythrocyte differentiation (GO:0045647)2.92579790
156regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)2.92305984
157negative regulation of toll-like receptor signaling pathway (GO:0034122)2.91932023
158detection of bacterium (GO:0016045)2.91123695
159T cell homeostasis (GO:0043029)2.90364668
160positive regulation of guanylate cyclase activity (GO:0031284)2.89618410
161regulation of bile acid biosynthetic process (GO:0070857)2.88907185
162positive regulation of macrophage cytokine production (GO:0060907)2.88907128
163regulation of gamma-delta T cell differentiation (GO:0045586)2.88425521
164positive regulation of CREB transcription factor activity (GO:0032793)2.87059571
165positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.86814713
166nonmotile primary cilium assembly (GO:0035058)2.86523457
167cellular response to interleukin-15 (GO:0071350)2.82412881
168antigen processing and presentation via MHC class Ib (GO:0002475)2.81184128
169B cell homeostasis (GO:0001782)2.81048506
170regulation of interferon-alpha production (GO:0032647)2.80478799
171cellular response to type I interferon (GO:0071357)2.78683419
172type I interferon signaling pathway (GO:0060337)2.78683419
173positive regulation of B cell differentiation (GO:0045579)2.78651730
174negative regulation of B cell mediated immunity (GO:0002713)2.78241515
175negative regulation of immunoglobulin mediated immune response (GO:0002890)2.78241515
176response to type I interferon (GO:0034340)2.75778865
177respiratory burst (GO:0045730)2.73296883
178production of molecular mediator involved in inflammatory response (GO:0002532)2.72217687
179immunoglobulin mediated immune response (GO:0016064)2.67948951
180positive regulation of mast cell activation (GO:0033005)2.67869573
181negative regulation of B cell proliferation (GO:0030889)2.66701114
182negative regulation of leukocyte mediated immunity (GO:0002704)2.64944365
183leukocyte aggregation (GO:0070486)2.64939087
184negative regulation of adaptive immune response based on somatic recombination of immune receptors b2.64886224
185granulocyte activation (GO:0036230)2.64413368
186regulation of guanylate cyclase activity (GO:0031282)2.63153421
187regulation of female receptivity (GO:0045924)2.61370279
188positive regulation of interferon-beta production (GO:0032728)2.61288384
189regulation of myeloid cell apoptotic process (GO:0033032)2.61113069
190myeloid leukocyte activation (GO:0002274)2.59973479
191myeloid leukocyte mediated immunity (GO:0002444)2.59601837
192regulation of B cell differentiation (GO:0045577)2.58459234
193regulation of interleukin-6 biosynthetic process (GO:0045408)2.58387698
194detection of light stimulus involved in sensory perception (GO:0050962)11.6666056
195detection of light stimulus involved in visual perception (GO:0050908)11.6666056

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.05240303
2GLI1_17442700_ChIP-ChIP_MESCs_Mouse4.85912536
3BP1_19119308_ChIP-ChIP_Hs578T_Human4.39802809
4BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse3.90039296
5GBX2_23144817_ChIP-Seq_PC3_Human3.83059638
6STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.77846002
7FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.69483250
8GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.31944615
9ZFP322A_24550733_ChIP-Seq_MESCs_Mouse3.13293295
10IRF8_27001747_Chip-Seq_BMDM_Mouse3.05073164
11SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.04223583
12MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.95637962
13IRF8_21731497_ChIP-ChIP_J774_Mouse2.92580898
14MYB_21317192_ChIP-Seq_ERMYB_Mouse2.83389963
15STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.74960743
16REST_21632747_ChIP-Seq_MESCs_Mouse2.74262657
17DROSHA_22980978_ChIP-Seq_HELA_Human2.66088761
18AR_21572438_ChIP-Seq_LNCaP_Human2.63419276
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.61823569
20NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.58535161
21JARID2_20075857_ChIP-Seq_MESCs_Mouse2.56540337
22IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.54786345
23VDR_24763502_ChIP-Seq_THP-1_Human2.52123883
24SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.50594355
25IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.44462144
26SUZ12_27294783_Chip-Seq_ESCs_Mouse2.43721300
27SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.40589739
28SCL_19346495_ChIP-Seq_HPC-7_Human2.40524202
29P53_22127205_ChIP-Seq_FIBROBLAST_Human2.40437652
30JARID2_20064375_ChIP-Seq_MESCs_Mouse2.40032364
31TAF15_26573619_Chip-Seq_HEK293_Human2.37995662
32SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.37839584
33RUNX_20019798_ChIP-Seq_JUKART_Human2.35860754
34SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.31154822
35NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.28087451
36EZH2_27304074_Chip-Seq_ESCs_Mouse2.27979923
37VDR_21846776_ChIP-Seq_THP-1_Human2.25472191
38REST_18959480_ChIP-ChIP_MESCs_Mouse2.22908692
39SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.21113269
40E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.19970728
41MYB_26560356_Chip-Seq_TH2_Human2.17742012
42MTF2_20144788_ChIP-Seq_MESCs_Mouse2.15103189
43* SPI1_23127762_ChIP-Seq_K562_Human2.14831678
44EGR1_19374776_ChIP-ChIP_THP-1_Human2.12117674
45TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.12052567
46GATA2_21666600_ChIP-Seq_HMVEC_Human2.11807704
47BRD4_27068464_Chip-Seq_AML-cells_Mouse2.09409323
48RNF2_27304074_Chip-Seq_ESCs_Mouse2.07068448
49MAF_26560356_Chip-Seq_TH1_Human2.06972549
50SPI1_23547873_ChIP-Seq_NB4_Human2.06158655
51SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.05283826
52FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.01494268
53VDR_24787735_ChIP-Seq_THP-1_Human1.99583450
54CTBP1_25329375_ChIP-Seq_LNCAP_Human1.98826063
55MYB_26560356_Chip-Seq_TH1_Human1.98523320
56Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.96509574
57MYC_22102868_ChIP-Seq_BL_Human1.96025451
58EED_16625203_ChIP-ChIP_MESCs_Mouse1.94686540
59RNF2_18974828_ChIP-Seq_MESCs_Mouse1.94229467
60EZH2_18974828_ChIP-Seq_MESCs_Mouse1.94229467
61ZFP57_27257070_Chip-Seq_ESCs_Mouse1.93541240
62RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.88620934
63PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.88605044
64FUS_26573619_Chip-Seq_HEK293_Human1.85593883
65VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.84469401
66IGF1R_20145208_ChIP-Seq_DFB_Human1.83366130
67RARB_27405468_Chip-Seq_BRAIN_Mouse1.80770682
68RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.80362043
69* TCF7_22412390_ChIP-Seq_EML_Mouse1.77175612
70PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.76594338
71CTBP2_25329375_ChIP-Seq_LNCAP_Human1.76287241
72EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.75219499
73UTX_26944678_Chip-Seq_JUKART_Human1.74305126
74BMI1_23680149_ChIP-Seq_NPCS_Mouse1.72833154
75IKZF1_21737484_ChIP-ChIP_HCT116_Human1.72200561
76STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.70696516
77KDM2B_26808549_Chip-Seq_SUP-B15_Human1.66521187
78SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.61556146
79NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.61453571
80RUNX1_22412390_ChIP-Seq_EML_Mouse1.61011367
81STAT4_19710469_ChIP-ChIP_TH1__Mouse1.59292195
82KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.59281181
83MAF_26560356_Chip-Seq_TH2_Human1.56311027
84KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.55719729
85CBX2_27304074_Chip-Seq_ESCs_Mouse1.54196876
86* SMAD4_21799915_ChIP-Seq_A2780_Human1.53940090
87RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.53331473
88PIAS1_25552417_ChIP-Seq_VCAP_Human1.52907925
89* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.50202731
90AR_25329375_ChIP-Seq_VCAP_Human1.49226262
91GATA3_27048872_Chip-Seq_THYMUS_Human1.48559480
92ESR1_20079471_ChIP-ChIP_T-47D_Human1.47759332
93LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.46089324
94KDM2B_26808549_Chip-Seq_DND41_Human1.44957675
95TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.44792248
96LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.40018636
97SMAD3_21741376_ChIP-Seq_HESCs_Human1.36207319
98THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.34281711
99GATA1_19941827_ChIP-Seq_MEL_Mouse1.33915918
100RNF2_27304074_Chip-Seq_NSC_Mouse1.32436480
101RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.30404539
102STAT6_21828071_ChIP-Seq_BEAS2B_Human1.29870921
103SMAD3_21741376_ChIP-Seq_EPCs_Human1.28287077
104NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.28276428
105GATA2_22383799_ChIP-Seq_G1ME_Mouse1.27124662
106E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.26956248
107NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse1.26800126
108MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.26527459
109FLI1_21867929_ChIP-Seq_TH2_Mouse1.26519677
110AR_19668381_ChIP-Seq_PC3_Human1.26285913
111CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.25601977
112PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.24961482
113RING1B_27294783_Chip-Seq_ESCs_Mouse1.24366017
114CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.23826395
115SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.22961598
116SMAD_19615063_ChIP-ChIP_OVARY_Human1.21395404
117TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.21058826
118HIF1A_21447827_ChIP-Seq_MCF-7_Human1.20281949
119MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.19769234
120STAT3_23295773_ChIP-Seq_U87_Human1.19569935
121FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.18437577
122P300_19829295_ChIP-Seq_ESCs_Human1.18016448
123ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.17794241
124PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.17427067
125GATA3_26560356_Chip-Seq_TH2_Human1.17295035
126POU3F2_20337985_ChIP-ChIP_501MEL_Human1.17039527
127SMAD4_21741376_ChIP-Seq_HESCs_Human1.14630013
128PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.14270726
129KDM2B_26808549_Chip-Seq_JURKAT_Human1.13632768
130STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.13626126
131TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.12842838
132PU_27001747_Chip-Seq_BMDM_Mouse1.12065978
133NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.11066825
134PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.10049302
135SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.09870942
136TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.09193290
137TRIM28_21343339_ChIP-Seq_HEK293_Human1.08502065
138CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.08077705
139SOX2_21211035_ChIP-Seq_LN229_Gbm1.07994651
140ELK3_25401928_ChIP-Seq_HUVEC_Human1.06255649
141* TCF4_23295773_ChIP-Seq_U87_Human1.06201980
142CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.05529894
143ELK4_26923725_Chip-Seq_MESODERM_Mouse1.05395337
144CDX2_19796622_ChIP-Seq_MESCs_Mouse1.05105666
145* ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.05026565
146YAP1_20516196_ChIP-Seq_MESCs_Mouse1.04757276
147GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.04328937
148UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.03905984
149ER_23166858_ChIP-Seq_MCF-7_Human1.03166470
150TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.01206565
151CBP_21632823_ChIP-Seq_H3396_Human1.00106668
152SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.99939768
153CTCF_27219007_Chip-Seq_Bcells_Human0.99700329
154GATA1_19941827_ChIP-Seq_MEL86_Mouse0.99538286
155OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.98930570
156IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.97847330
157CBP_20019798_ChIP-Seq_JUKART_Human0.97847330
158CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.97643057
159MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.96925303
160RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.96161853
161VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.96035868
162FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.95244615
163KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.94484470
164GATA1_22383799_ChIP-Seq_G1ME_Mouse0.94056249
165SMRT_27268052_Chip-Seq_Bcells_Human0.93850502
166SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92398582
167WT1_25993318_ChIP-Seq_PODOCYTE_Human0.91167666
168DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.90597673
169KDM2B_26808549_Chip-Seq_K562_Human0.90307902
170RING1B_27294783_Chip-Seq_NPCs_Mouse0.90285541
171* LXR_22292898_ChIP-Seq_THP-1_Human0.90239156
172SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.89864536
173TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.89648728
174CLOCK_20551151_ChIP-Seq_293T_Human0.89155654
175GATA1_19941826_ChIP-Seq_K562_Human0.87733860
176CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.86624599
177VDR_22108803_ChIP-Seq_LS180_Human0.85196440
178SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.85022227
179SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.84924265
180PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.84749443
181ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.84588511
182MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.83888997
183WDR5_24793694_ChIP-Seq_LNCAP_Human0.83818534
184GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.83734028
185FOXO3_23340844_ChIP-Seq_DLD1_Human0.83687588
186SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.80534116
187SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.79463604
188GATA2_19941826_ChIP-Seq_K562_Human0.77608475
189EGR1_19032775_ChIP-ChIP_M12_Human0.76914792
190NOTCH1_21737748_ChIP-Seq_TLL_Human0.72963290
191CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.72673385
192NCOR1_26117541_ChIP-Seq_K562_Human0.72349898
193JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.71878892
194PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.70679284
195PU.1_20513432_ChIP-Seq_Bcells_Mouse0.70513482
196LXR_22158963_ChIP-Seq_LIVER_Mouse0.70458957

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005551_abnormal_eye_electrophysiolog6.65131989
2MP0002090_abnormal_vision5.17813133
3MP0001984_abnormal_olfaction4.87739111
4MP0006072_abnormal_retinal_apoptosis4.61511504
5MP0003724_increased_susceptibility_to4.10988836
6MP0004233_abnormal_muscle_weight3.93841713
7MP0001502_abnormal_circadian_rhythm3.63305375
8MP0002638_abnormal_pupillary_reflex3.29538073
9MP0001835_abnormal_antigen_presentation3.23971988
10MP0002132_abnormal_respiratory_system3.18106975
11MP0002163_abnormal_gland_morphology3.04038636
12MP0006292_abnormal_olfactory_placode2.98751865
13MP0005253_abnormal_eye_physiology2.91518355
14MP0010386_abnormal_urinary_bladder2.89802429
15MP0003183_abnormal_peptide_metabolism2.88646302
16MP0003436_decreased_susceptibility_to2.80533336
17MP0000685_abnormal_immune_system2.75394686
18MP0002419_abnormal_innate_immunity2.67386798
19MP0001800_abnormal_humoral_immune2.59821465
20MP0003303_peritoneal_inflammation2.59692251
21MP0005195_abnormal_posterior_eye2.52872200
22MP0001790_abnormal_immune_system2.48893690
23MP0005387_immune_system_phenotype2.48893690
24MP0006082_CNS_inflammation2.47079347
25MP0004782_abnormal_surfactant_physiolog2.41753868
26MP0003191_abnormal_cellular_cholesterol2.39814370
27MP0004036_abnormal_muscle_relaxation2.38016599
28MP0001346_abnormal_lacrimal_gland2.35078412
29MP0008775_abnormal_heart_ventricle2.34934593
30MP0005000_abnormal_immune_tolerance2.30116521
31MP0004084_abnormal_cardiac_muscle2.28677273
32MP0003828_pulmonary_edema2.27910124
33MP0002452_abnormal_antigen_presenting2.23957633
34MP0002723_abnormal_immune_serum2.22606518
35MP0002420_abnormal_adaptive_immunity2.16432344
36MP0005451_abnormal_body_composition2.15775990
37MP0005248_abnormal_Harderian_gland2.14355823
38MP0009785_altered_susceptibility_to2.14149885
39MP0003950_abnormal_plasma_membrane2.13181446
40MP0001819_abnormal_immune_cell2.12869882
41MP0005025_abnormal_response_to2.12387991
42MP0004381_abnormal_hair_follicle2.11746773
43MP0002396_abnormal_hematopoietic_system2.09564832
44MP0005671_abnormal_response_to2.04017813
45MP0003880_abnormal_central_pattern2.01005862
46MP0002138_abnormal_hepatobiliary_system2.00235534
47MP0009046_muscle_twitch2.00147285
48MP0003763_abnormal_thymus_physiology1.89638297
49MP0003300_gastrointestinal_ulcer1.89385444
50MP0010030_abnormal_orbit_morphology1.85370670
51MP0005464_abnormal_platelet_physiology1.82503986
52MP0005394_taste/olfaction_phenotype1.81178642
53MP0005499_abnormal_olfactory_system1.81178642
54MP0002184_abnormal_innervation1.79398467
55MP0003172_abnormal_lysosome_physiology1.79372377
56MP0001986_abnormal_taste_sensitivity1.77240244
57MP0005670_abnormal_white_adipose1.77029977
58MP0002398_abnormal_bone_marrow1.76372958
59MP0003635_abnormal_synaptic_transmissio1.74236389
60MP0008789_abnormal_olfactory_epithelium1.71728736
61MP0002272_abnormal_nervous_system1.70706843
62MP0002405_respiratory_system_inflammati1.70663656
63MP0002332_abnormal_exercise_endurance1.70636977
64MP0002067_abnormal_sensory_capabilities1.69302570
65MP0001533_abnormal_skeleton_physiology1.68579588
66MP0001851_eye_inflammation1.68320144
67MP0000716_abnormal_immune_system1.66661193
68MP0002229_neurodegeneration1.66487032
69MP0005595_abnormal_vascular_smooth1.59787336
70MP0002734_abnormal_mechanical_nocicepti1.57605715
71MP0001188_hyperpigmentation1.56400355
72MP0000858_altered_metastatic_potential1.55784064
73MP0002148_abnormal_hypersensitivity_rea1.55374429
74MP0004215_abnormal_myocardial_fiber1.54063771
75MP0002752_abnormal_somatic_nervous1.53627420
76MP0002064_seizures1.51910325
77MP0010155_abnormal_intestine_physiology1.51549349
78MP0001486_abnormal_startle_reflex1.48167749
79MP0003045_fibrosis1.47753521
80MP0002063_abnormal_learning/memory/cond1.44250661
81MP0005164_abnormal_response_to1.43928454
82MP0002139_abnormal_hepatobiliary_system1.43098589
83MP0003868_abnormal_feces_composition1.40874930
84MP0004883_abnormal_blood_vessel1.40237711
85MP0002234_abnormal_pharynx_morphology1.40216084
86MP0000569_abnormal_digit_pigmentation1.39800309
87MP0002722_abnormal_immune_system1.39411659
88MP0001845_abnormal_inflammatory_respons1.38663862
89MP0005379_endocrine/exocrine_gland_phen1.37741628
90MP0003879_abnormal_hair_cell1.36761627
91MP0004510_myositis1.32386352
92MP0004947_skin_inflammation1.31876558
93MP0002166_altered_tumor_susceptibility1.31102888
94MP0000689_abnormal_spleen_morphology1.30217954
95MP0005310_abnormal_salivary_gland1.29964001
96MP0000703_abnormal_thymus_morphology1.29875959
97MP0009697_abnormal_copulation1.28439827
98MP0004859_abnormal_synaptic_plasticity1.27291300
99MP0002429_abnormal_blood_cell1.26962500
100MP0002998_abnormal_bone_remodeling1.25894420
101MP0001968_abnormal_touch/_nociception1.25698569
102MP0003866_abnormal_defecation1.25205788
103MP0009745_abnormal_behavioral_response1.24691476
104MP0005391_vision/eye_phenotype1.23852865
105MP0003252_abnormal_bile_duct1.23659524
106MP0001529_abnormal_vocalization1.22811355
107MP0008260_abnormal_autophagy1.21491214
108MP0009278_abnormal_bone_marrow1.20807979
109MP0002882_abnormal_neuron_morphology1.19257088
110MP0008569_lethality_at_weaning1.19209294
111MP0002909_abnormal_adrenal_gland1.18811654
112MP0000631_abnormal_neuroendocrine_gland1.18026385
113MP0002877_abnormal_melanocyte_morpholog1.13853074
114MP0004130_abnormal_muscle_cell1.13650664
115MP0008469_abnormal_protein_level1.13063316
116MP0004808_abnormal_hematopoietic_stem1.12763753
117MP0004145_abnormal_muscle_electrophysio1.11645994
118MP0010368_abnormal_lymphatic_system1.10999719
119MP0002009_preneoplasia1.10965783
120MP0001324_abnormal_eye_pigmentation1.09054422
121MP0005666_abnormal_adipose_tissue1.07991351
122MP0001501_abnormal_sleep_pattern1.07913145
123MP0002736_abnormal_nociception_after1.04464286
124MP0001879_abnormal_lymphatic_vessel1.03382107
125MP0009764_decreased_sensitivity_to1.03093903
126MP0003011_delayed_dark_adaptation1.01936795
127MP0003195_calcinosis1.01701565
128MP0002572_abnormal_emotion/affect_behav1.01485860
129MP0005375_adipose_tissue_phenotype1.01366454
130MP0000343_altered_response_to0.98347619
131MP0005397_hematopoietic_system_phenotyp0.98096480
132MP0001545_abnormal_hematopoietic_system0.98096480
133MP0005423_abnormal_somatic_nervous0.97573575
134MP0002277_abnormal_respiratory_mucosa0.96304222
135MP0000751_myopathy0.94623609
136MP0009333_abnormal_splenocyte_physiolog0.93844861
137MP0002928_abnormal_bile_duct0.93781208
138MP0000015_abnormal_ear_pigmentation0.93444308
139MP0005166_decreased_susceptibility_to0.92528539
140MP0006276_abnormal_autonomic_nervous0.92294586
141MP0008057_abnormal_DNA_replication0.92256608
142MP0002933_joint_inflammation0.90828404
143MP0008874_decreased_physiological_sensi0.89911214
144MP0005620_abnormal_muscle_contractility0.89481866
145MP0000465_gastrointestinal_hemorrhage0.86872242
146MP0004742_abnormal_vestibular_system0.85133234
147MP0002089_abnormal_postnatal_growth/wei0.83714178
148MP0003448_altered_tumor_morphology0.83113264
149MP0004085_abnormal_heartbeat0.82996304
150MP0003656_abnormal_erythrocyte_physiolo0.82905060
151MP0002653_abnormal_ependyma_morphology0.82536296
152MP0004484_altered_response_of0.82276768
153MP0000955_abnormal_spinal_cord0.81987964
154MP0002822_catalepsy0.80318107
155MP0000372_irregular_coat_pigmentation0.78578340
156MP0002557_abnormal_social/conspecific_i0.78170452
157MP0005390_skeleton_phenotype0.76795221
158MP0003634_abnormal_glial_cell0.76513486
159MP0000534_abnormal_ureter_morphology0.75186080
160MP0005076_abnormal_cell_differentiation0.75145276
161MP0004811_abnormal_neuron_physiology0.74795112
162MP0006035_abnormal_mitochondrial_morpho0.73988903
163MP0005220_abnormal_exocrine_pancreas0.73770117
164MP0003890_abnormal_embryonic-extraembry0.73690402
165MP0003075_altered_response_to0.72413147
166MP0004142_abnormal_muscle_tone0.69777077
167MP0003091_abnormal_cell_migration0.68935230
168MP0009763_increased_sensitivity_to0.68070701
169MP0000013_abnormal_adipose_tissue0.66797660
170MP0003633_abnormal_nervous_system0.66760835
171MP0000566_synostosis0.66529644
172MP0000249_abnormal_blood_vessel0.63969354
173MP0000230_abnormal_systemic_arterial0.63353374
174MP0004043_abnormal_pH_regulation0.61579558
175MP0002006_tumorigenesis0.61401104
176MP0002066_abnormal_motor_capabilities/c0.61175121
177MP0002751_abnormal_autonomic_nervous0.61128640
178MP0002168_other_aberrant_phenotype0.60437341
179MP0003221_abnormal_cardiomyocyte_apopto0.59925067
180MP0001873_stomach_inflammation0.59226409
181MP0002269_muscular_atrophy0.56904244
182MP0001915_intracranial_hemorrhage0.56800486
183MP0002735_abnormal_chemical_nociception0.56791643
184MP0008872_abnormal_physiological_respon0.56672131
185MP0000371_diluted_coat_color0.56629445
186MP0004270_analgesia0.55016810
187MP0003959_abnormal_lean_body0.54406047
188MP0003329_amyloid_beta_deposits0.53927917
189MP0001970_abnormal_pain_threshold0.53045083
190MP0002069_abnormal_eating/drinking_beha0.52011839
191MP0000003_abnormal_adipose_tissue0.51081570
192MP0005266_abnormal_metabolism0.50686350
193MP0004924_abnormal_behavior0.50335944
194MP0005386_behavior/neurological_phenoty0.50335944
195MP0002152_abnormal_brain_morphology0.48905615

Predicted human phenotypes

RankGene SetZ-score
1Central scotoma (HP:0000603)7.93119077
2Severe visual impairment (HP:0001141)7.78670059
3Abnormality of macular pigmentation (HP:0008002)6.93587307
4Abnormal rod and cone electroretinograms (HP:0008323)5.94511830
5Septo-optic dysplasia (HP:0100842)5.31712282
6Scotoma (HP:0000575)5.17740910
7Cholecystitis (HP:0001082)5.16931410
8Abnormal gallbladder physiology (HP:0012438)5.16931410
9Epileptic encephalopathy (HP:0200134)4.98772326
10Aplasia/Hypoplasia of the fovea (HP:0008060)4.97752288
11Hypoplasia of the fovea (HP:0007750)4.97752288
12Decreased central vision (HP:0007663)4.70251286
13Increased corneal curvature (HP:0100692)4.67272550
14Keratoconus (HP:0000563)4.67272550
15Albinism (HP:0001022)4.52533847
16Recurrent abscess formation (HP:0002722)4.39763034
17Absence seizures (HP:0002121)4.24355237
18Recurrent bacterial skin infections (HP:0005406)4.22847542
19Febrile seizures (HP:0002373)4.22462487
20Eczematoid dermatitis (HP:0000976)4.10888092
21Orchitis (HP:0100796)4.07011793
22Retrobulbar optic neuritis (HP:0100654)3.99704358
23Optic neuritis (HP:0100653)3.99704358
24Abnormality of the fovea (HP:0000493)3.94856950
25Myositis (HP:0100614)3.93242178
26Abnormality of macrophages (HP:0004311)3.93219696
27Spontaneous hematomas (HP:0007420)3.80993590
28Abnormal pupillary function (HP:0007686)3.80700943
29Keratoconjunctivitis sicca (HP:0001097)3.78926252
30Bony spicule pigmentary retinopathy (HP:0007737)3.71234045
31Recurrent fungal infections (HP:0002841)3.64718953
32Recurrent cutaneous fungal infections (HP:0011370)3.54798833
33Chronic mucocutaneous candidiasis (HP:0002728)3.54798833
34Abnormal delayed hypersensitivity skin test (HP:0002963)3.52831883
35Gastrointestinal infarctions (HP:0005244)3.51510837
36Keratoconjunctivitis (HP:0001096)3.51323407
37Aplasia/Hypoplasia of the macula (HP:0008059)3.47531128
38J-shaped sella turcica (HP:0002680)3.40637544
39Dialeptic seizures (HP:0011146)3.39878435
40Encephalitis (HP:0002383)3.37434311
41Aplasia/Hypoplasia affecting the retina (HP:0008061)3.31273583
42Mediastinal lymphadenopathy (HP:0100721)3.27945449
43Autoimmune hemolytic anemia (HP:0001890)3.20167649
44Hemiparesis (HP:0001269)3.18633679
45Meningitis (HP:0001287)3.17627654
46Recurrent skin infections (HP:0001581)3.12707535
47Recurrent gram-negative bacterial infections (HP:0005420)3.11040753
48Progressive cerebellar ataxia (HP:0002073)3.10904027
49Abnormality of glycosphingolipid metabolism (HP:0004343)3.07534849
50Abnormality of glycolipid metabolism (HP:0010969)3.07534849
51Abnormality of liposaccharide metabolism (HP:0010968)3.07534849
52Prolonged bleeding time (HP:0003010)3.00232000
53Recurrent viral infections (HP:0004429)2.98362553
54Gingival bleeding (HP:0000225)2.93658747
55Vasculitis (HP:0002633)2.88408360
56Stomatitis (HP:0010280)2.83775790
57Prolonged QT interval (HP:0001657)2.79896409
58Elevated erythrocyte sedimentation rate (HP:0003565)2.78793668
59Aplasia/Hypoplasia affecting the fundus (HP:0008057)2.77502665
60Arterial thrombosis (HP:0004420)2.75062190
61Viral hepatitis (HP:0006562)2.70759150
62Increased IgE level (HP:0003212)2.67832363
63T lymphocytopenia (HP:0005403)2.67415493
64Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.67407734
65Optic nerve hypoplasia (HP:0000609)2.67385861
66Chronic obstructive pulmonary disease (HP:0006510)2.66301829
67Obstructive lung disease (HP:0006536)2.66301829
68Mutism (HP:0002300)2.66118546
69EEG with generalized epileptiform discharges (HP:0011198)2.62568955
70Panhypogammaglobulinemia (HP:0003139)2.62566857
71Generalized hypopigmentation (HP:0007513)2.58825663
72Absent septum pellucidum (HP:0001331)2.58214415
73Deformed sella turcica (HP:0002681)2.57489951
74Chest pain (HP:0100749)2.56067362
75Gingivitis (HP:0000230)2.54443270
76Abnormality of T cell number (HP:0011839)2.53355125
77Epistaxis (HP:0000421)2.53291740
78Epileptiform EEG discharges (HP:0011182)2.51296838
79Gastrointestinal inflammation (HP:0004386)2.50814900
80Inflammation of the large intestine (HP:0002037)2.49838081
81Generalized tonic-clonic seizures (HP:0002069)2.48924731
82Dysdiadochokinesis (HP:0002075)2.48333711
83Colitis (HP:0002583)2.46541197
84Subacute progressive viral hepatitis (HP:0006572)2.45187087
85Peritonitis (HP:0002586)2.44541829
86Hemoptysis (HP:0002105)2.43026757
87Attenuation of retinal blood vessels (HP:0007843)2.34042634
88Exercise-induced myalgia (HP:0003738)2.31349021
89Abnormality of abdominal situs (HP:0011620)2.30757653
90Abdominal situs inversus (HP:0003363)2.30757653
91Recurrent bronchitis (HP:0002837)2.30032937
92Pulmonary infiltrates (HP:0002113)2.27686981
93Leukocytosis (HP:0001974)2.24606882
94Recurrent pneumonia (HP:0006532)2.24560137
95Cellulitis (HP:0100658)2.23956825
96Flat acetabular roof (HP:0003180)2.23434243
97Abnormality of T cells (HP:0002843)2.22842274
98Ventricular fibrillation (HP:0001663)2.22751294
99Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.22491159
100Abnormality of alanine metabolism (HP:0010916)2.22491159
101Hyperalaninemia (HP:0003348)2.22491159
102Congenital sensorineural hearing impairment (HP:0008527)2.18927140
103Thoracolumbar scoliosis (HP:0002944)2.17018005
104Severe Myopia (HP:0011003)2.16288029
105Glucose intolerance (HP:0000833)2.16193728
106Episodic fever (HP:0001954)2.16007483
107Osteomyelitis (HP:0002754)2.15407252
108Abnormality of the septum pellucidum (HP:0007375)2.13322087
109Abnormality of the lower motor neuron (HP:0002366)2.12914939
110Neoplasm of the heart (HP:0100544)2.11942204
111Abnormality of the peritoneum (HP:0002585)2.11107137
112Abnormality of B cell number (HP:0010975)2.09808622
113Fatigue (HP:0012378)2.09663895
114Supranuclear gaze palsy (HP:0000605)2.09155041
115Urticaria (HP:0001025)2.08209525
116Recurrent lower respiratory tract infections (HP:0002783)2.08154539
117Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.06728657
118Hand muscle atrophy (HP:0009130)2.06240213
119Gangrene (HP:0100758)2.05530330
120Astigmatism (HP:0000483)2.05514861
121Retinal dysplasia (HP:0007973)2.03820161
122B lymphocytopenia (HP:0010976)2.03599878
123Agammaglobulinemia (HP:0004432)2.01460272
124Increased connective tissue (HP:0009025)2.00279273
125Congenital stationary night blindness (HP:0007642)15.9641277
126Myocardial infarction (HP:0001658)1.99767395
127Sepsis (HP:0100806)1.99727468
128Granulocytopenia (HP:0001913)1.98558054
129Hematochezia (HP:0002573)1.98502959
130Gait imbalance (HP:0002141)1.98073979
131Acute hepatic failure (HP:0006554)1.96402016
132Anorexia (HP:0002039)1.95528838
133Retinitis pigmentosa (HP:0000510)1.95212195
134Abnormality of the endocardium (HP:0004306)1.94579386
135Unsteady gait (HP:0002317)1.93927465
136Photophobia (HP:0000613)1.92770483
137Dysmetric saccades (HP:0000641)1.91447323
138Abnormality of the left ventricular outflow tract (HP:0011103)1.90182666
139Subaortic stenosis (HP:0001682)1.90182666
140Abnormality of T cell physiology (HP:0011840)1.89647775
141Thoracic kyphosis (HP:0002942)1.89285453
142Easy fatigability (HP:0003388)1.89186318
143Depression (HP:0000716)1.89058438
144Pulmonary embolism (HP:0002204)1.88825851
145Eosinophilia (HP:0001880)1.88472950
146Congenital primary aphakia (HP:0007707)1.87634303
147Keratitis (HP:0000491)1.87354380
148Long toe (HP:0010511)1.85974344
149Abolished electroretinogram (ERG) (HP:0000550)1.85722040
150Pustule (HP:0200039)1.85024040
151Hepatosplenomegaly (HP:0001433)1.84389921
152Neurodegeneration (HP:0002180)1.82645685
153Hyporeflexia of lower limbs (HP:0002600)1.80781825
154Increased IgM level (HP:0003496)1.80526244
155Abnormality of mucopolysaccharide metabolism (HP:0011020)1.79849027
156Abnormality of polysaccharide metabolism (HP:0011012)1.79849027
157Abnormality of glycosaminoglycan metabolism (HP:0004371)1.79849027
158Abnormality of the pleura (HP:0002103)1.79754152
159Purpura (HP:0000979)1.79295560
160Growth hormone deficiency (HP:0000824)1.78401745
161Papilledema (HP:0001085)1.78048391
162Cerebellar dysplasia (HP:0007033)1.77868779
163Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.76214566
164Nephrogenic diabetes insipidus (HP:0009806)1.76194361
165Lymphopenia (HP:0001888)1.76141608
166Abnormal EKG (HP:0003115)1.72325075
167Cholelithiasis (HP:0001081)1.71148790
168Myoglobinuria (HP:0002913)1.70993870
169Primary adrenal insufficiency (HP:0008207)1.69209142
170Medial flaring of the eyebrow (HP:0010747)1.68757255
171Widely spaced teeth (HP:0000687)1.67888759
172Type II diabetes mellitus (HP:0005978)1.67740249
173Syncope (HP:0001279)1.67511633
174Partial agenesis of the corpus callosum (HP:0001338)1.65292354
175Sex reversal (HP:0012245)1.65185422
176Abnormal sex determination (HP:0012244)1.65185422
177Pendular nystagmus (HP:0012043)1.64403260
178Exercise-induced muscle cramps (HP:0003710)1.64139764
179Scanning speech (HP:0002168)1.62328758
180Atrial fibrillation (HP:0005110)1.60679024
181Gaze-evoked nystagmus (HP:0000640)1.60351496
182Abnormality of the sella turcica (HP:0002679)1.57184930
183Upper limb amyotrophy (HP:0009129)1.56848673
184Distal upper limb amyotrophy (HP:0007149)1.56848673
185Visual hallucinations (HP:0002367)1.56451250
186Decreased circulating renin level (HP:0003351)1.56413581
187Maternal diabetes (HP:0009800)1.55685290
188Chorioretinal coloboma (HP:0000567)1.55328249
189Polyphagia (HP:0002591)1.55303550
190Flat cornea (HP:0007720)1.54548688
191Arterial tortuosity (HP:0005116)1.54377224
192Gastrointestinal dysmotility (HP:0002579)1.53889631
193True hermaphroditism (HP:0010459)1.52773078
194Abnormal gallbladder morphology (HP:0012437)1.51668823
195Increased neuronal autofluorescent lipopigment (HP:0002074)1.50730768
196Spondylolisthesis (HP:0003302)1.50278334
197Limb ataxia (HP:0002070)1.49166748
198Volvulus (HP:0002580)1.49088711

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PBK5.49371828
2NEK14.21919125
3BLK3.85046603
4RIPK43.71502503
5NME13.48077878
6MAP2K33.27111385
7MAP3K133.20385207
8RIPK13.03114600
9STK38L3.02261271
10PRPF4B3.00950807
11PAK62.96738096
12TAOK22.88284397
13ERN12.69767949
14MAP3K42.62279293
15STK382.60807978
16IRAK42.55944990
17MAP4K12.39691164
18DYRK1A2.37283341
19PHKG22.33874211
20PHKG12.33874211
21MINK12.18848696
22PINK12.16297180
23TYK22.07648302
24MARK11.92062122
25MAP3K31.86340596
26EPHA41.85450715
27MAP3K141.84282206
28INSRR1.81742325
29CDK121.78939240
30PIK3CG1.78348915
31ZAP701.75208178
32FES1.72646218
33CSK1.70670992
34MAP3K71.70507859
35TAOK31.53731095
36TNK21.52429334
37JAK31.49912436
38CAMK2D1.48930296
39CAMK1D1.46403083
40KDR1.46192730
41FGR1.46177427
42MUSK1.45712902
43KIT1.45121010
44PRKAA11.44992595
45HCK1.41448651
46IKBKE1.40024711
47MAP3K101.37586888
48SYK1.34741010
49EPHB11.30748421
50YES11.30340851
51CLK11.29504514
52MAP3K11.29087454
53STK241.26206635
54PKN21.20744657
55MELK1.19333404
56JAK11.18468437
57TXK1.17604373
58TBK11.17392064
59BTK1.15662180
60JAK21.14668565
61FER1.14337905
62LYN1.13756869
63CDK31.09293797
64MAP3K51.08084799
65CSF1R1.05975156
66MAP3K91.02533791
67PAK31.01997716
68EPHA31.01788966
69NEK91.00223072
70IRAK20.98619470
71BRD40.98510178
72CDK140.98496258
73MAP2K70.93921135
74CAMK10.93882559
75CAMK1G0.93315863
76TAOK10.91112117
77RPS6KB20.89047749
78BMPR20.88667460
79IKBKB0.88233356
80ITK0.86647069
81DYRK1B0.84871874
82DAPK20.82979200
83TRIB30.82232960
84MAP3K20.81423521
85GRK60.80195765
86MAPK70.79622687
87PDK10.79597430
88MARK30.79143132
89STK100.78649031
90SGK4940.77816372
91SGK2230.77816372
92CDK60.77521518
93IRAK30.76456938
94PKN10.74555313
95ICK0.73983149
96MAP3K60.72596501
97MAPK120.71632031
98LCK0.71440813
99RET0.71405563
100PRKCE0.70801811
101SIK30.70779817
102AKT30.70767460
103ROCK20.69812653
104PRKG10.69609696
105FLT30.68869709
106PRKCG0.68520309
107CAMK2A0.67452141
108CDK150.67237627
109FRK0.67051218
110RAF10.65752547
111KSR10.65716756
112PRKD20.65310469
113HIPK20.64192663
114MAP3K110.62165795
115TEC0.61993663
116CDK180.61137989
117CDK80.60835327
118PTK2B0.60784317
119TNIK0.60724447
120PRKCQ0.60037220
121TRPM70.59708895
122CDK40.59449506
123PDPK10.58428198
124PRKCA0.58196686
125CDK11A0.57012676
126MOS0.56425307
127MAPK100.56005701
128CDK50.55987126
129WNK30.55552895
130MAP2K60.55039374
131NEK60.54721953
132PRKG20.54411621
133BMX0.53523077
134WNK10.52270206
135PRKCZ0.51939027
136NLK0.51499891
137MARK20.51339325
138MATK0.50551535
139PRKACA0.50483876
140NTRK20.48551812
141LRRK20.48261486
142PRKCB0.47698691
143RPS6KA30.45965568
144PIM10.44732076
145PLK30.44623982
146BCKDK0.43047490
147FGFR30.42972228
148CAMK40.41303878
149PRKAA20.41016183
150GSK3B0.38772782
151ERBB20.38482933
152RPS6KL10.38101253
153RPS6KC10.38101253
154MAPK130.37603565
155ARAF0.36736219
156MAPK90.36036587
157STK40.35999721
158RPS6KA50.35141383
159ERBB30.34751385
160PRKACB0.34386902
161MAP2K40.34156656
162RPS6KA60.34128574
163RPS6KA40.33756673
164FGFR10.33452011
165KSR20.33286968
166MAPK80.32089843
167PRKD30.31776272
168BRAF0.31670564
169MAPK10.31101742
170CAMKK10.31010558
171PRKACG0.30728096
172ROCK10.29867526
173TSSK60.27305663
174CASK0.25931510
175MAPK140.25838614
176IRAK10.24669187
177AKT20.22213280
178CSNK1E0.20825191
179CDC42BPA0.20151424

Predicted pathways (KEGG)

RankGene SetZ-score
1Synaptic vesicle cycle_Homo sapiens_hsa047214.28551830
2* GABAergic synapse_Homo sapiens_hsa047273.74337928
3Circadian rhythm_Homo sapiens_hsa047103.72079041
4* Morphine addiction_Homo sapiens_hsa050323.27021169
5* Nicotine addiction_Homo sapiens_hsa050333.07464351
6* Retrograde endocannabinoid signaling_Homo sapiens_hsa047233.03870968
7Fructose and mannose metabolism_Homo sapiens_hsa000512.75537180
8Circadian entrainment_Homo sapiens_hsa047132.72732382
9Leishmaniasis_Homo sapiens_hsa051402.54314350
10Olfactory transduction_Homo sapiens_hsa047402.50898932
11Osteoclast differentiation_Homo sapiens_hsa043802.48551767
12Renin secretion_Homo sapiens_hsa049242.46422023
13Glycolysis / Gluconeogenesis_Homo sapiens_hsa000102.30909229
14Toll-like receptor signaling pathway_Homo sapiens_hsa046202.27693110
15B cell receptor signaling pathway_Homo sapiens_hsa046622.27334453
16Insulin secretion_Homo sapiens_hsa049112.26769962
17Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.19385350
18Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.02593281
19Biosynthesis of amino acids_Homo sapiens_hsa012301.98006605
20Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.92018965
21Salivary secretion_Homo sapiens_hsa049701.91578778
22Tuberculosis_Homo sapiens_hsa051521.90903061
23Glutamatergic synapse_Homo sapiens_hsa047241.90501483
24Cyanoamino acid metabolism_Homo sapiens_hsa004601.88769815
25Cardiac muscle contraction_Homo sapiens_hsa042601.87231641
26Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.86098972
27NOD-like receptor signaling pathway_Homo sapiens_hsa046211.84985577
28Measles_Homo sapiens_hsa051621.82254845
29Taste transduction_Homo sapiens_hsa047421.79322553
30Cholinergic synapse_Homo sapiens_hsa047251.78931302
31Non-small cell lung cancer_Homo sapiens_hsa052231.78255964
32NF-kappa B signaling pathway_Homo sapiens_hsa040641.76062701
33Legionellosis_Homo sapiens_hsa051341.76027301
34Primary immunodeficiency_Homo sapiens_hsa053401.74144531
35Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.73006114
36Collecting duct acid secretion_Homo sapiens_hsa049661.72126223
37Serotonergic synapse_Homo sapiens_hsa047261.69078626
38Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.66392006
39Acute myeloid leukemia_Homo sapiens_hsa052211.63177576
40RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.63032405
41Staphylococcus aureus infection_Homo sapiens_hsa051501.61777307
42Malaria_Homo sapiens_hsa051441.59690688
43Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.58843251
44Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.58830437
45Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.58118418
46Toxoplasmosis_Homo sapiens_hsa051451.56660354
47Oxytocin signaling pathway_Homo sapiens_hsa049211.56615702
48Hematopoietic cell lineage_Homo sapiens_hsa046401.56355639
49TNF signaling pathway_Homo sapiens_hsa046681.56009651
50T cell receptor signaling pathway_Homo sapiens_hsa046601.52669383
51Dilated cardiomyopathy_Homo sapiens_hsa054141.51837975
52Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.50881384
53Dorso-ventral axis formation_Homo sapiens_hsa043201.47710880
54Central carbon metabolism in cancer_Homo sapiens_hsa052301.45775698
55Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.44724404
56Jak-STAT signaling pathway_Homo sapiens_hsa046301.41546060
57Influenza A_Homo sapiens_hsa051641.41219798
58Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.39045727
59Pancreatic cancer_Homo sapiens_hsa052121.38875039
60Pentose phosphate pathway_Homo sapiens_hsa000301.38500539
61Dopaminergic synapse_Homo sapiens_hsa047281.35396324
62cGMP-PKG signaling pathway_Homo sapiens_hsa040221.34044408
63Phototransduction_Homo sapiens_hsa047441.32768039
64Mineral absorption_Homo sapiens_hsa049781.32545324
65Hepatitis B_Homo sapiens_hsa051611.31708137
66Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.27219742
67Chemokine signaling pathway_Homo sapiens_hsa040621.26155767
68Herpes simplex infection_Homo sapiens_hsa051681.25401380
69Chronic myeloid leukemia_Homo sapiens_hsa052201.22102474
70Aldosterone synthesis and secretion_Homo sapiens_hsa049251.21742317
71Calcium signaling pathway_Homo sapiens_hsa040201.17678500
72Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.17206630
73Platelet activation_Homo sapiens_hsa046111.16909705
74Hepatitis C_Homo sapiens_hsa051601.14551154
75Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.10349816
76Vascular smooth muscle contraction_Homo sapiens_hsa042701.09844682
77Graft-versus-host disease_Homo sapiens_hsa053321.09082873
78FoxO signaling pathway_Homo sapiens_hsa040681.06068892
79Allograft rejection_Homo sapiens_hsa053301.03461357
80Galactose metabolism_Homo sapiens_hsa000521.03458977
81Apoptosis_Homo sapiens_hsa042101.02494428
82Glycosaminoglycan degradation_Homo sapiens_hsa005311.02038995
83Prostate cancer_Homo sapiens_hsa052151.01734329
84Carbon metabolism_Homo sapiens_hsa012000.99757975
85Type II diabetes mellitus_Homo sapiens_hsa049300.99487737
86Shigellosis_Homo sapiens_hsa051310.94329932
87Carbohydrate digestion and absorption_Homo sapiens_hsa049730.94077466
88Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.93813564
892-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.92759321
90AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.92407072
91Autoimmune thyroid disease_Homo sapiens_hsa053200.91601684
92African trypanosomiasis_Homo sapiens_hsa051430.90798328
93Leukocyte transendothelial migration_Homo sapiens_hsa046700.89252568
94Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.88094391
95Viral myocarditis_Homo sapiens_hsa054160.86394984
96Gap junction_Homo sapiens_hsa045400.85964095
97Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.85143540
98* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.83367148
99Prolactin signaling pathway_Homo sapiens_hsa049170.82042773
100Notch signaling pathway_Homo sapiens_hsa043300.81483307
101cAMP signaling pathway_Homo sapiens_hsa040240.79956484
102VEGF signaling pathway_Homo sapiens_hsa043700.79018689
103Endometrial cancer_Homo sapiens_hsa052130.78105975
104Other glycan degradation_Homo sapiens_hsa005110.75863312
105Pertussis_Homo sapiens_hsa051330.75851064
106Insulin resistance_Homo sapiens_hsa049310.75202667
107Viral carcinogenesis_Homo sapiens_hsa052030.72760848
108Neurotrophin signaling pathway_Homo sapiens_hsa047220.72561349
109Antigen processing and presentation_Homo sapiens_hsa046120.70884399
110Glioma_Homo sapiens_hsa052140.70421433
111Intestinal immune network for IgA production_Homo sapiens_hsa046720.69520118
112Fatty acid biosynthesis_Homo sapiens_hsa000610.69274877
113Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.66830015
114Transcriptional misregulation in cancer_Homo sapiens_hsa052020.66624690
115Phagosome_Homo sapiens_hsa041450.66262529
116Pancreatic secretion_Homo sapiens_hsa049720.65973878
117Sphingolipid signaling pathway_Homo sapiens_hsa040710.62896716
118Inositol phosphate metabolism_Homo sapiens_hsa005620.62731695
119Small cell lung cancer_Homo sapiens_hsa052220.62277729
120Adipocytokine signaling pathway_Homo sapiens_hsa049200.61990996
121mTOR signaling pathway_Homo sapiens_hsa041500.61856042
122Vibrio cholerae infection_Homo sapiens_hsa051100.61826905
123HIF-1 signaling pathway_Homo sapiens_hsa040660.60844534
124Alcoholism_Homo sapiens_hsa050340.59752769
125Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.58734427
126Salmonella infection_Homo sapiens_hsa051320.57928108
127Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.57061807
128Bladder cancer_Homo sapiens_hsa052190.56171157
129Bile secretion_Homo sapiens_hsa049760.55530376
130Amoebiasis_Homo sapiens_hsa051460.55472839
131Epstein-Barr virus infection_Homo sapiens_hsa051690.55053820
132ErbB signaling pathway_Homo sapiens_hsa040120.55049367
133Renin-angiotensin system_Homo sapiens_hsa046140.53689374
134Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.53614083
135Insulin signaling pathway_Homo sapiens_hsa049100.52900070
136Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.52518221
137HTLV-I infection_Homo sapiens_hsa051660.50577030
138alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.50569080
139Type I diabetes mellitus_Homo sapiens_hsa049400.48639431
140ABC transporters_Homo sapiens_hsa020100.48202602
141Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.47317407
142Pyruvate metabolism_Homo sapiens_hsa006200.46134746
143Long-term depression_Homo sapiens_hsa047300.45073099
144GnRH signaling pathway_Homo sapiens_hsa049120.43810459
145Estrogen signaling pathway_Homo sapiens_hsa049150.43276956
146Glucagon signaling pathway_Homo sapiens_hsa049220.42588267
147Thyroid hormone signaling pathway_Homo sapiens_hsa049190.42569288
148Linoleic acid metabolism_Homo sapiens_hsa005910.40451590
149Rheumatoid arthritis_Homo sapiens_hsa053230.39213624
150Cocaine addiction_Homo sapiens_hsa050300.38793126
151AMPK signaling pathway_Homo sapiens_hsa041520.36994886
152Sphingolipid metabolism_Homo sapiens_hsa006000.36746097
153MAPK signaling pathway_Homo sapiens_hsa040100.35874724
154Phospholipase D signaling pathway_Homo sapiens_hsa040720.35423614
155Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.35254543
156Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.33369897
157Gastric acid secretion_Homo sapiens_hsa049710.31223240
158Phosphatidylinositol signaling system_Homo sapiens_hsa040700.30561559
159Glycerophospholipid metabolism_Homo sapiens_hsa005640.27533155
160Renal cell carcinoma_Homo sapiens_hsa052110.27490501
161Arginine and proline metabolism_Homo sapiens_hsa003300.27209844
162Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.26960865
163Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.26202670
164Amphetamine addiction_Homo sapiens_hsa050310.25802560
165Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.25377235
166Protein digestion and absorption_Homo sapiens_hsa049740.25238808
167Purine metabolism_Homo sapiens_hsa002300.24932915
168Phenylalanine metabolism_Homo sapiens_hsa003600.24233262
169Ras signaling pathway_Homo sapiens_hsa040140.23989962
170Lysosome_Homo sapiens_hsa041420.22072381
171Regulation of autophagy_Homo sapiens_hsa041400.21444538
172Thyroid hormone synthesis_Homo sapiens_hsa049180.18696309
173Choline metabolism in cancer_Homo sapiens_hsa052310.18129608
174Arginine biosynthesis_Homo sapiens_hsa002200.17413034
175Longevity regulating pathway - mammal_Homo sapiens_hsa042110.16906172
176Colorectal cancer_Homo sapiens_hsa052100.15179768
177Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.13955970
178Endocytosis_Homo sapiens_hsa041440.11674270
179SNARE interactions in vesicular transport_Homo sapiens_hsa041300.11444818
180Starch and sucrose metabolism_Homo sapiens_hsa005000.11266132

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