GABRG1

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





Description: The protein encoded by this gene belongs to the ligand-gated ionic channel family. It is an integral membrane protein and plays an important role in inhibiting neurotransmission by binding to the benzodiazepine receptor and opening an integral chloride channel. This gene is clustered with three other family members on chromosome 4. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle docking involved in exocytosis (GO:0016081)6.92952212
2alanine transport (GO:0032328)5.01343716
3axon ensheathment in central nervous system (GO:0032291)4.94622101
4central nervous system myelination (GO:0022010)4.94622101
5gamma-aminobutyric acid transport (GO:0015812)4.84067756
6regulation of short-term neuronal synaptic plasticity (GO:0048172)4.73660065
7proline transport (GO:0015824)4.64014774
8neuron cell-cell adhesion (GO:0007158)4.63271436
9positive regulation of synapse maturation (GO:0090129)4.63256099
10cellular potassium ion homeostasis (GO:0030007)4.62307133
11vocalization behavior (GO:0071625)4.55345091
12membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.37687973
13response to auditory stimulus (GO:0010996)4.31798436
14ionotropic glutamate receptor signaling pathway (GO:0035235)4.22984551
15auditory behavior (GO:0031223)4.17855932
16sodium ion export (GO:0071436)4.12974574
17regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.12441109
18regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.10233809
19locomotory exploration behavior (GO:0035641)4.09978672
20C4-dicarboxylate transport (GO:0015740)4.08634649
21regulation of glutamate receptor signaling pathway (GO:1900449)4.07896991
22glutamate receptor signaling pathway (GO:0007215)4.06764821
23neurotransmitter uptake (GO:0001504)3.99877759
24positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.98802270
25neuronal ion channel clustering (GO:0045161)3.94616737
26L-serine transport (GO:0015825)3.91947852
27neurotransmitter-gated ion channel clustering (GO:0072578)3.89760258
28L-amino acid import (GO:0043092)3.88806080
29synaptic vesicle endocytosis (GO:0048488)3.87727941
30synaptic vesicle exocytosis (GO:0016079)3.87261824
31transmission of nerve impulse (GO:0019226)3.86212734
32neurotransmitter secretion (GO:0007269)3.85105684
33G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.77018707
34regulation of voltage-gated calcium channel activity (GO:1901385)3.75927879
35regulation of ARF protein signal transduction (GO:0032012)3.75592673
36regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.73347295
37protein localization to synapse (GO:0035418)3.73163856
38regulation of neurotransmitter secretion (GO:0046928)3.72779052
39synaptic transmission, glutamatergic (GO:0035249)3.70951157
40amino acid import (GO:0043090)3.70689952
41regulation of synapse maturation (GO:0090128)3.68766867
42positive regulation of dendritic spine development (GO:0060999)3.67917427
43negative regulation of synaptic transmission, GABAergic (GO:0032229)3.67849042
44cell communication by electrical coupling (GO:0010644)3.67673967
45positive regulation of membrane potential (GO:0045838)3.67002892
46regulation of synaptic plasticity (GO:0048167)3.66247737
47glutamate secretion (GO:0014047)3.62313843
48positive regulation of synaptic transmission, GABAergic (GO:0032230)3.61716450
49drinking behavior (GO:0042756)3.58430939
50cerebellar Purkinje cell differentiation (GO:0021702)3.58383029
51positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.58238056
52neurotransmitter transport (GO:0006836)3.56085744
53regulation of synaptic vesicle exocytosis (GO:2000300)3.53623123
54positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.52293647
55neuromuscular process controlling balance (GO:0050885)3.50000424
56regulation of neurotransmitter transport (GO:0051588)3.49260337
57neuron-neuron synaptic transmission (GO:0007270)3.49139074
58neuronal action potential propagation (GO:0019227)3.48698991
59positive regulation of synapse assembly (GO:0051965)3.47603902
60response to histamine (GO:0034776)3.46808601
61layer formation in cerebral cortex (GO:0021819)3.45872806
62synaptic vesicle maturation (GO:0016188)3.45063063
63neuron recognition (GO:0008038)3.42653045
64postsynaptic membrane organization (GO:0001941)3.40943132
65regulation of neurotransmitter levels (GO:0001505)3.36488896
66presynaptic membrane assembly (GO:0097105)3.34452927
67cellular sodium ion homeostasis (GO:0006883)3.33902256
68membrane depolarization (GO:0051899)3.33485072
69startle response (GO:0001964)3.30906333
70regulation of neuronal synaptic plasticity (GO:0048168)3.29310258
71regulation of long-term neuronal synaptic plasticity (GO:0048169)3.28956400
72serine transport (GO:0032329)3.28555360
73negative regulation of cytosolic calcium ion concentration (GO:0051481)3.28443852
74cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.27944844
75mechanosensory behavior (GO:0007638)3.27862367
76L-glutamate transport (GO:0015813)3.27538053
77negative regulation of dendrite morphogenesis (GO:0050774)3.25876507
78* gamma-aminobutyric acid signaling pathway (GO:0007214)3.24832433
79regulation of synaptic transmission, glutamatergic (GO:0051966)3.23330851
80regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.22563178
81positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.22306505
82long-term memory (GO:0007616)3.21106687
83exploration behavior (GO:0035640)3.16846077
84regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.16317726
85regulation of respiratory system process (GO:0044065)3.15760585
86positive regulation of amino acid transport (GO:0051957)3.12109603
87regulation of dendritic spine development (GO:0060998)3.12049791
88potassium ion homeostasis (GO:0055075)3.11723576
89cell communication involved in cardiac conduction (GO:0086065)3.09518573
90* synaptic transmission (GO:0007268)3.09261991
91activation of protein kinase A activity (GO:0034199)3.08230049
92regulation of synapse structural plasticity (GO:0051823)3.08006701
93negative regulation of sodium ion transport (GO:0010766)3.07819554
94regulation of synaptic transmission (GO:0050804)3.07671080
95regulation of dendritic spine morphogenesis (GO:0061001)3.07575029
96positive regulation of potassium ion transmembrane transport (GO:1901381)3.07400818
97potassium ion import (GO:0010107)3.06292787
98regulation of synaptic vesicle transport (GO:1902803)3.05540110
99cell differentiation in hindbrain (GO:0021533)3.05105518
100dendritic spine morphogenesis (GO:0060997)3.05080020
101axonal fasciculation (GO:0007413)3.04375944
102cerebellar granule cell differentiation (GO:0021707)3.03793548
103adult walking behavior (GO:0007628)3.01860052
104positive regulation of neurotransmitter transport (GO:0051590)3.01813924
105positive regulation of dendritic spine morphogenesis (GO:0061003)3.00699471
106presynaptic membrane organization (GO:0097090)3.00651070
107positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.00459290
108detection of calcium ion (GO:0005513)3.00368950
109regulation of vesicle fusion (GO:0031338)2.99066187
110positive regulation of neurotransmitter secretion (GO:0001956)2.98028764
111synaptic vesicle transport (GO:0048489)2.97885928
112establishment of synaptic vesicle localization (GO:0097480)2.97885928
113regulation of beta-amyloid formation (GO:1902003)2.97306834
114neuromuscular process (GO:0050905)2.96653551
115atrial cardiac muscle cell action potential (GO:0086014)2.94676101
116synapse assembly (GO:0007416)2.94328599
117regulation of synaptic transmission, GABAergic (GO:0032228)2.93050362
118prepulse inhibition (GO:0060134)2.92269067
119regulation of protein kinase A signaling (GO:0010738)2.90850759
120regulation of glutamate secretion (GO:0014048)2.88207075
121negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.88116013
122acidic amino acid transport (GO:0015800)2.87794252
123regulation of excitatory postsynaptic membrane potential (GO:0060079)2.84390299
124regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.81435000
125neurotransmitter catabolic process (GO:0042135)2.79185094
126regulation of postsynaptic membrane potential (GO:0060078)2.78465620
127long-term synaptic potentiation (GO:0060291)2.76482956
128membrane hyperpolarization (GO:0060081)2.76138312
129regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.75975193
130neuromuscular process controlling posture (GO:0050884)2.75959693
131membrane depolarization during action potential (GO:0086010)2.75187947
132opioid receptor signaling pathway (GO:0038003)2.71784869
133regulation of respiratory gaseous exchange (GO:0043576)2.70644218
134female mating behavior (GO:0060180)2.70392428
135regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.68924524

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.28921083
2GBX2_23144817_ChIP-Seq_PC3_Human3.70938037
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.12345412
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.06552634
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.95410671
6SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.77354768
7SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.64202816
8SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.58673703
9RNF2_18974828_ChIP-Seq_MESCs_Mouse2.52472665
10EZH2_18974828_ChIP-Seq_MESCs_Mouse2.52472665
11JARID2_20075857_ChIP-Seq_MESCs_Mouse2.49854202
12EED_16625203_ChIP-ChIP_MESCs_Mouse2.48744861
13EZH2_27304074_Chip-Seq_ESCs_Mouse2.48405914
14TAF15_26573619_Chip-Seq_HEK293_Human2.45373932
15REST_21632747_ChIP-Seq_MESCs_Mouse2.43816114
16MTF2_20144788_ChIP-Seq_MESCs_Mouse2.40969855
17SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.33326492
18GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.31641254
19AR_21572438_ChIP-Seq_LNCaP_Human2.19895949
20* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.19869264
21IKZF1_21737484_ChIP-ChIP_HCT116_Human2.07462503
22RNF2_27304074_Chip-Seq_ESCs_Mouse2.04156655
23SUZ12_27294783_Chip-Seq_ESCs_Mouse2.02178056
24* ZFP57_27257070_Chip-Seq_ESCs_Mouse2.00477742
25EZH2_27294783_Chip-Seq_ESCs_Mouse2.00397441
26* CTBP1_25329375_ChIP-Seq_LNCAP_Human2.00195363
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.99233272
28PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.95378416
29EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.95027356
30CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.94465686
31P300_19829295_ChIP-Seq_ESCs_Human1.87150301
32DROSHA_22980978_ChIP-Seq_HELA_Human1.84188107
33CBX2_27304074_Chip-Seq_ESCs_Mouse1.82412868
34REST_18959480_ChIP-ChIP_MESCs_Mouse1.81994087
35IGF1R_20145208_ChIP-Seq_DFB_Human1.75182814
36SMAD4_21799915_ChIP-Seq_A2780_Human1.73006411
37RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.70269233
38BMI1_23680149_ChIP-Seq_NPCS_Mouse1.68132713
39NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.65291372
40CDX2_19796622_ChIP-Seq_MESCs_Mouse1.63990105
41ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.61702811
42RARB_27405468_Chip-Seq_BRAIN_Mouse1.61015699
43PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.59440636
44PIAS1_25552417_ChIP-Seq_VCAP_Human1.59353526
45SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.55982361
46* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.53810531
47PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.52116035
48RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.51295958
49TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.49822566
50* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.45056015
51AR_25329375_ChIP-Seq_VCAP_Human1.44533126
52ZNF274_21170338_ChIP-Seq_K562_Hela1.44143308
53SMAD3_21741376_ChIP-Seq_EPCs_Human1.43749117
54SMAD_19615063_ChIP-ChIP_OVARY_Human1.43296674
55TOP2B_26459242_ChIP-Seq_MCF-7_Human1.42494965
56FUS_26573619_Chip-Seq_HEK293_Human1.40951361
57THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.39362291
58OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.38597614
59* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.37662359
60RNF2_27304074_Chip-Seq_NSC_Mouse1.36295862
61SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.35503646
62NR3C1_23031785_ChIP-Seq_PC12_Mouse1.30349812
63GATA1_26923725_Chip-Seq_HPCs_Mouse1.25754825
64CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.25154565
65* SOX2_21211035_ChIP-Seq_LN229_Gbm1.23637771
66RING1B_27294783_Chip-Seq_ESCs_Mouse1.23508973
67TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.22907639
68NR3C1_21868756_ChIP-Seq_MCF10A_Human1.22461080
69WT1_25993318_ChIP-Seq_PODOCYTE_Human1.21352755
70ERG_21242973_ChIP-ChIP_JURKAT_Human1.20064708
71STAT3_23295773_ChIP-Seq_U87_Human1.19912013
72ER_23166858_ChIP-Seq_MCF-7_Human1.19515789
73RUNX2_22187159_ChIP-Seq_PCA_Human1.18543765
74BCAT_22108803_ChIP-Seq_LS180_Human1.15084846
75DNAJC2_21179169_ChIP-ChIP_NT2_Human1.13428336
76CTNNB1_20460455_ChIP-Seq_HCT116_Human1.12600618
77MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.09790660
78TP53_18474530_ChIP-ChIP_U2OS_Human1.09763943
79* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.09102668
80AR_19668381_ChIP-Seq_PC3_Human1.07205880
81TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.06825007
82NANOG_18555785_Chip-Seq_ESCs_Mouse1.06739159
83MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.06591204
84CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.05707851
85TCF4_23295773_ChIP-Seq_U87_Human1.05354996
86LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05163778
87TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04822452
88EWS_26573619_Chip-Seq_HEK293_Human1.03423046
89JUN_21703547_ChIP-Seq_K562_Human1.02212544
90ZFP281_18757296_ChIP-ChIP_E14_Mouse1.01239061
91ARNT_22903824_ChIP-Seq_MCF-7_Human0.99455756
92RING1B_27294783_Chip-Seq_NPCs_Mouse0.98540718
93SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.98237757
94PRDM14_20953172_ChIP-Seq_ESCs_Human0.97584857
95TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.96526969
96POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.95724548
97TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95724548
98KDM2B_26808549_Chip-Seq_K562_Human0.95487309
99HTT_18923047_ChIP-ChIP_STHdh_Human0.94704924
100P53_22127205_ChIP-Seq_FIBROBLAST_Human0.93742353
101YAP1_20516196_ChIP-Seq_MESCs_Mouse0.93242293
102MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.93104967
103EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.92723274
104TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.92470765
105E2F1_18555785_Chip-Seq_ESCs_Mouse0.91311195
106TET1_21490601_ChIP-Seq_MESCs_Mouse0.91233469
107FLI1_27457419_Chip-Seq_LIVER_Mouse0.91032482
108* SOX9_26525672_Chip-Seq_HEART_Mouse0.90684761
109ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.90041843
110KDM2B_26808549_Chip-Seq_REH_Human0.89816512
111* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.89627952
112RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.89533227
113RXR_22108803_ChIP-Seq_LS180_Human0.89488840
114SMAD3_21741376_ChIP-Seq_ESCs_Human0.89408719
115CBP_20019798_ChIP-Seq_JUKART_Human0.88758589
116IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.88758589
117ZNF217_24962896_ChIP-Seq_MCF-7_Human0.88064628
118CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.87541104
119EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.87239421
120ZFP281_27345836_Chip-Seq_ESCs_Mouse0.85169463
121HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.82440798
122OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.80902055

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern4.22955043
2MP0004859_abnormal_synaptic_plasticity4.12911527
3MP0005423_abnormal_somatic_nervous3.87763733
4MP0003635_abnormal_synaptic_transmissio3.49300577
5MP0009046_muscle_twitch3.25226629
6MP0001968_abnormal_touch/_nociception3.14628503
7MP0009745_abnormal_behavioral_response3.10186479
8MP0004270_analgesia3.07455226
9MP0002064_seizures2.97163763
10MP0002736_abnormal_nociception_after2.81578615
11MP0002063_abnormal_learning/memory/cond2.75646350
12MP0002572_abnormal_emotion/affect_behav2.67336123
13MP0001440_abnormal_grooming_behavior2.65083644
14MP0003136_yellow_coat_color2.54740979
15MP0001486_abnormal_startle_reflex2.54331729
16MP0002734_abnormal_mechanical_nocicepti2.37119118
17MP0002272_abnormal_nervous_system2.35443523
18MP0001529_abnormal_vocalization2.34582096
19MP0004858_abnormal_nervous_system2.30869779
20MP0001501_abnormal_sleep_pattern2.29070707
21MP0006276_abnormal_autonomic_nervous2.28260300
22MP0005645_abnormal_hypothalamus_physiol2.27620035
23MP0002735_abnormal_chemical_nociception2.10437051
24MP0001984_abnormal_olfaction2.07854094
25MP0005646_abnormal_pituitary_gland2.02649271
26MP0002067_abnormal_sensory_capabilities1.99845203
27MP0003690_abnormal_glial_cell1.99046857
28MP0002733_abnormal_thermal_nociception1.97004560
29MP0003122_maternal_imprinting1.89467414
30MP0001970_abnormal_pain_threshold1.88102851
31MP0004142_abnormal_muscle_tone1.87451750
32MP0005171_absent_coat_pigmentation1.82558644
33MP0002557_abnormal_social/conspecific_i1.81680670
34MP0004924_abnormal_behavior1.79782861
35MP0005386_behavior/neurological_phenoty1.79782861
36MP0003329_amyloid_beta_deposits1.78292709
37MP0004885_abnormal_endolymph1.75975723
38MP0001502_abnormal_circadian_rhythm1.72369527
39MP0002822_catalepsy1.64136639
40MP0000778_abnormal_nervous_system1.56392780
41MP0002184_abnormal_innervation1.50267803
42MP0001905_abnormal_dopamine_level1.47459794
43MP0008569_lethality_at_weaning1.40365114
44MP0003633_abnormal_nervous_system1.38468930
45MP0009780_abnormal_chondrocyte_physiolo1.35980880
46MP0005623_abnormal_meninges_morphology1.29835669
47MP0005551_abnormal_eye_electrophysiolog1.28800727
48MP0002638_abnormal_pupillary_reflex1.26751468
49MP0002066_abnormal_motor_capabilities/c1.25613309
50MP0004147_increased_porphyrin_level1.24032553
51MP0002882_abnormal_neuron_morphology1.22288779
52MP0004742_abnormal_vestibular_system1.21421434
53MP0003634_abnormal_glial_cell1.21072502
54MP0003787_abnormal_imprinting1.18788667
55MP0002254_reproductive_system_inflammat1.16205378
56MP0000569_abnormal_digit_pigmentation1.16200992
57MP0002653_abnormal_ependyma_morphology1.16074094
58MP0000955_abnormal_spinal_cord1.14473454
59MP0003631_nervous_system_phenotype1.09894324
60MP0001963_abnormal_hearing_physiology1.09698577
61MP0005379_endocrine/exocrine_gland_phen1.09273814
62MP0000751_myopathy1.08197402
63MP0001188_hyperpigmentation1.06828139
64MP0004043_abnormal_pH_regulation1.03660341
65MP0008872_abnormal_physiological_respon1.00013523
66MP0002229_neurodegeneration0.99453559
67MP0002152_abnormal_brain_morphology0.99132912
68MP0005167_abnormal_blood-brain_barrier0.98064573
69MP0000631_abnormal_neuroendocrine_gland0.95830626
70MP0004811_abnormal_neuron_physiology0.95808637
71MP0003121_genomic_imprinting0.95756415
72MP0001485_abnormal_pinna_reflex0.95626939
73MP0001346_abnormal_lacrimal_gland0.93670927
74MP0002909_abnormal_adrenal_gland0.91677639
75MP0003075_altered_response_to0.91334371
76MP0004215_abnormal_myocardial_fiber0.90969101
77MP0006072_abnormal_retinal_apoptosis0.90853772
78MP0003646_muscle_fatigue0.88937680
79MP0001664_abnormal_digestion0.88594678
80MP0000026_abnormal_inner_ear0.87834998
81MP0002069_abnormal_eating/drinking_beha0.86316367
82MP0010386_abnormal_urinary_bladder0.86286700
83MP0002090_abnormal_vision0.86037333
84MP0005253_abnormal_eye_physiology0.81948542
85MP0003137_abnormal_impulse_conducting0.81437838
86MP0000604_amyloidosis0.80897250
87MP0002752_abnormal_somatic_nervous0.80699462
88MP0006292_abnormal_olfactory_placode0.79522764
89MP0003123_paternal_imprinting0.77977387
90MP0005409_darkened_coat_color0.77970261
91MP0002876_abnormal_thyroid_physiology0.76796933
92MP0004085_abnormal_heartbeat0.76761728
93MP0003878_abnormal_ear_physiology0.74456257
94MP0005377_hearing/vestibular/ear_phenot0.74456257
95MP0000566_synostosis0.74321309
96MP0005499_abnormal_olfactory_system0.73231206
97MP0005394_taste/olfaction_phenotype0.73231206
98MP0001986_abnormal_taste_sensitivity0.72236357
99MP0000920_abnormal_myelination0.71705934
100MP0003879_abnormal_hair_cell0.71143459
101MP0003632_abnormal_nervous_system0.69697495
102MP0005535_abnormal_body_temperature0.67521704
103MP0001348_abnormal_lacrimal_gland0.64757068
104MP0001177_atelectasis0.64361426
105MP0001943_abnormal_respiration0.62607709
106MP0001299_abnormal_eye_distance/0.60901714
107MP0010769_abnormal_survival0.58424658
108MP0004145_abnormal_muscle_electrophysio0.57326201
109MP0008874_decreased_physiological_sensi0.56570115
110MP0004130_abnormal_muscle_cell0.55730394
111MP0003861_abnormal_nervous_system0.55496163
112MP0004233_abnormal_muscle_weight0.55410549
113MP0010768_mortality/aging0.55134246
114MP0010770_preweaning_lethality0.54547207
115MP0002082_postnatal_lethality0.54547207
116MP0003956_abnormal_body_size0.50307617
117MP0008877_abnormal_DNA_methylation0.49037405
118MP0003938_abnormal_ear_development0.45910227
119MP0000579_abnormal_nail_morphology0.43949598

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)6.72421265
2Hemiparesis (HP:0001269)4.83895635
3Focal seizures (HP:0007359)4.82145408
4Myokymia (HP:0002411)4.72724049
5Epileptic encephalopathy (HP:0200134)4.46539992
6Generalized tonic-clonic seizures (HP:0002069)4.39115348
7Atonic seizures (HP:0010819)4.34245609
8Abnormality of binocular vision (HP:0011514)4.28493006
9Diplopia (HP:0000651)4.28493006
10Febrile seizures (HP:0002373)3.99195975
11Hemiplegia (HP:0002301)3.96820054
12Absence seizures (HP:0002121)3.89183527
13Aplasia involving bones of the extremities (HP:0009825)3.74892274
14Aplasia involving bones of the upper limbs (HP:0009823)3.74892274
15Aplasia of the phalanges of the hand (HP:0009802)3.74892274
16Visual hallucinations (HP:0002367)3.68464583
17Neurofibrillary tangles (HP:0002185)3.65355809
18Dialeptic seizures (HP:0011146)3.61917808
19Progressive cerebellar ataxia (HP:0002073)3.57939791
20Polyphagia (HP:0002591)3.35760498
21Megalencephaly (HP:0001355)3.34902044
22Papilledema (HP:0001085)3.16965038
23Supranuclear gaze palsy (HP:0000605)3.16247967
24Urinary urgency (HP:0000012)3.10067696
25Narrow nasal bridge (HP:0000446)3.09966998
26Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.07426265
27Abnormal eating behavior (HP:0100738)3.06975651
28Akinesia (HP:0002304)3.05785852
29Intention tremor (HP:0002080)2.99323258
30Truncal ataxia (HP:0002078)2.93193410
31Scanning speech (HP:0002168)2.91749079
32Cerebral inclusion bodies (HP:0100314)2.83888738
33Obstructive sleep apnea (HP:0002870)2.81313591
34Blue irides (HP:0000635)2.79450299
35Hypoplastic left heart (HP:0004383)2.77391216
36Broad-based gait (HP:0002136)2.76786387
37Degeneration of the lateral corticospinal tracts (HP:0002314)2.76785791
38Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.76785791
39Synostosis involving the elbow (HP:0003938)2.76465655
40Humeroradial synostosis (HP:0003041)2.76465655
41Neuroendocrine neoplasm (HP:0100634)2.72216662
42Torticollis (HP:0000473)2.71018341
43Abnormality of the axillary hair (HP:0100134)2.68999668
44Abnormality of secondary sexual hair (HP:0009888)2.68999668
45Gait imbalance (HP:0002141)2.65123786
46Fetal akinesia sequence (HP:0001989)2.63183309
47Dysdiadochokinesis (HP:0002075)2.61483155
48Impaired social interactions (HP:0000735)2.60256077
49Abnormal social behavior (HP:0012433)2.60256077
50Status epilepticus (HP:0002133)2.57672631
51Hyperventilation (HP:0002883)2.53219479
52Abnormal ciliary motility (HP:0012262)2.52909482
53Clumsiness (HP:0002312)2.51024508
54Anxiety (HP:0000739)2.49910692
55Split foot (HP:0001839)2.48421719
56Dynein arm defect of respiratory motile cilia (HP:0012255)2.47090770
57Absent/shortened dynein arms (HP:0200106)2.47090770
58Clonus (HP:0002169)2.43859474
59Confusion (HP:0001289)2.42243665
60Excessive salivation (HP:0003781)2.36472682
61Drooling (HP:0002307)2.36472682
62Depression (HP:0000716)2.36424605
63Congenital primary aphakia (HP:0007707)2.32428141
64Increased circulating renin level (HP:0000848)2.31217608
65Sleep apnea (HP:0010535)2.30650462
66Psychosis (HP:0000709)2.29357542
67Annular pancreas (HP:0001734)2.28638129
68Action tremor (HP:0002345)2.28513413
69Impaired vibration sensation in the lower limbs (HP:0002166)2.26940197
70Delusions (HP:0000746)2.26141315
71Dysmetria (HP:0001310)2.26134835
72Pheochromocytoma (HP:0002666)2.22264608
73Medial flaring of the eyebrow (HP:0010747)2.20826363
74Oligodactyly (hands) (HP:0001180)2.20344610
75Tetraplegia (HP:0002445)2.20152141
76Impaired vibratory sensation (HP:0002495)2.19763172
77Postural instability (HP:0002172)2.17806447
78Focal dystonia (HP:0004373)2.17241854
79Impaired smooth pursuit (HP:0007772)2.15457458
80Hypoplastic heart (HP:0001961)2.14132150
81Cerebral hypomyelination (HP:0006808)2.13084161
82Genetic anticipation (HP:0003743)2.09743033
83Abnormal hair whorl (HP:0010721)2.08201151
84Apathy (HP:0000741)2.07421720
85Morphological abnormality of the pyramidal tract (HP:0002062)2.06700490
86Generalized myoclonic seizures (HP:0002123)2.05140249
87Nephrogenic diabetes insipidus (HP:0009806)2.05127292
88Dysmetric saccades (HP:0000641)2.04176031
89Limb dystonia (HP:0002451)2.04061979
90Abnormality of the lower motor neuron (HP:0002366)2.03890286
91Specific learning disability (HP:0001328)2.03383256
92Urinary bladder sphincter dysfunction (HP:0002839)2.02937982
93Abnormal respiratory motile cilium morphology (HP:0005938)2.02722126
94Abnormal respiratory epithelium morphology (HP:0012253)2.02722126
95Bradykinesia (HP:0002067)2.01430984
96Craniofacial dystonia (HP:0012179)2.00114951
97Abnormal respiratory motile cilium physiology (HP:0012261)1.98608775
98Mutism (HP:0002300)1.96601774
99Esotropia (HP:0000565)1.95468567
100Epileptiform EEG discharges (HP:0011182)1.95041590
101Progressive inability to walk (HP:0002505)1.94996848
102Choreoathetosis (HP:0001266)1.94935795
103Lower limb muscle weakness (HP:0007340)1.94237345
104EEG with generalized epileptiform discharges (HP:0011198)1.93368397
105Vaginal atresia (HP:0000148)1.92214548
106Abnormality of ocular smooth pursuit (HP:0000617)1.90498173
107Genital tract atresia (HP:0001827)1.89734411
108Spastic tetraplegia (HP:0002510)1.89701646
109Postural tremor (HP:0002174)1.88410440
110Stereotypic behavior (HP:0000733)1.87162437
111Spastic gait (HP:0002064)1.85568534
112Retinal dysplasia (HP:0007973)1.85460835
113Diminished motivation (HP:0000745)1.85248959
114Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.84891797
115Rapidly progressive (HP:0003678)1.84814100
116Failure to thrive in infancy (HP:0001531)1.83777993
117Hypsarrhythmia (HP:0002521)1.82298695
118Ankle clonus (HP:0011448)1.82036305
119Gaze-evoked nystagmus (HP:0000640)1.81193843
120Amyotrophic lateral sclerosis (HP:0007354)1.80402203
121Spastic tetraparesis (HP:0001285)1.78566454
122Alacrima (HP:0000522)1.77772345
123Abnormality of saccadic eye movements (HP:0000570)1.77590738
124Peripheral hypomyelination (HP:0007182)1.75213051
125Fibular aplasia (HP:0002990)1.74932210
126Acute necrotizing encephalopathy (HP:0006965)1.74248318
127Median cleft lip (HP:0000161)1.73419088
128Facial shape deformation (HP:0011334)1.72659634
129Potter facies (HP:0002009)1.72659634
130Rigidity (HP:0002063)1.71327046
131Progressive macrocephaly (HP:0004481)1.70889408
132Infantile muscular hypotonia (HP:0008947)1.69512761
133Abnormality of salivation (HP:0100755)1.69036055
134Athetosis (HP:0002305)1.68437519
135Abnormality of the corticospinal tract (HP:0002492)1.67954126
136Onycholysis (HP:0001806)1.64783085
137Amblyopia (HP:0000646)1.63728633
138Poor suck (HP:0002033)1.63420294
139Neuronal loss in central nervous system (HP:0002529)1.63330183
140Poor eye contact (HP:0000817)1.62810269
141Incomplete penetrance (HP:0003829)1.60245827
142Absent speech (HP:0001344)1.57401566

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.02365148
2NTRK23.72437541
3EPHA43.66368756
4CASK3.40897537
5TNIK3.35023640
6MAP3K43.04180244
7MARK12.92483780
8MAP2K72.83288359
9MAP3K122.79657016
10MINK12.39473191
11MAP3K92.38618845
12MAPK132.05201567
13MAP2K42.03930604
14PNCK2.01107402
15PHKG11.99491745
16PHKG21.99491745
17LMTK21.94468186
18PRKD31.84290400
19TNK21.65443520
20FES1.56403418
21GRK71.54242375
22CDK51.28304652
23PRKCG1.26074709
24NTRK11.25539415
25SGK21.23894038
26ADRBK21.16326764
27CAMK2A1.14913314
28SGK4941.13213859
29SGK2231.13213859
30MUSK1.12623685
31SIK21.05812844
32RIPK11.04195237
33PAK61.03337936
34ARAF1.03167896
35GRK51.02963305
36UHMK11.01048751
37RIPK41.00397523
38LATS21.00353101
39MAP3K130.95540918
40PLK20.93137089
41DAPK20.92928242
42PAK30.92227823
43ADRBK10.87703703
44PRKCE0.87569324
45CAMK40.82662957
46SGK30.81213732
47OXSR10.80751540
48CAMKK10.80701258
49CAMK1G0.79857298
50CAMKK20.79146681
51AKT30.78160305
52CAMK2B0.78107145
53FGFR20.75362359
54STK380.75300969
55KSR10.75114417
56CCNB10.75094748
57PRPF4B0.72714408
58SGK10.71587598
59CAMK10.69751313
60PRKCH0.69573927
61MAPK120.68175815
62NEK60.67839807
63KSR20.67513718
64PKN10.67222110
65FGR0.66841018
66NME10.64784737
67WNK30.64734184
68CAMK2D0.62935486
69CDK180.62130709
70MAPKAPK50.60746392
71CDK150.60462505
72PINK10.59990353
73BMPR20.59792835
74CDK190.58851632
75FER0.58761670
76CDK140.57696120
77STK110.57504873
78CAMK2G0.56961977
79CSNK1G20.54632896
80TYRO30.52943228
81PDK10.52032495
82PTK2B0.50882956
83PRKACA0.50257696
84CDK11A0.48427775
85MARK20.48009784
86DAPK10.47788869
87STK240.47054515
88RPS6KA30.46254788
89DYRK1A0.45542586
90PRKCA0.45361618
91STK390.45325446
92RAF10.44593631
93SIK30.44452937
94CDC42BPA0.43877522
95WNK10.42935345
96ROCK20.42039014
97PRKG10.41254128
98BRSK10.41055264
99BRAF0.40641476
100ROCK10.39546851
101MAPK100.38680130
102FYN0.38349351
103PRKCB0.37811579
104PRKCZ0.37780785
105PDPK10.37288240
106MAPK150.36557806
107PIK3CA0.35786887
108PRKACG0.35751240
109PRKD20.33794720
110BMX0.33733816
111MAPK40.32948983
112TSSK60.32882213
113LIMK10.32552673
114RPS6KB10.32247551
115RET0.30837350
116CDK30.30759641
117ALK0.30004079

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050334.32726440
2* GABAergic synapse_Homo sapiens_hsa047273.00064024
3* Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.64720947
4Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.52741064
5Synaptic vesicle cycle_Homo sapiens_hsa047212.52687340
6Glutamatergic synapse_Homo sapiens_hsa047242.49307827
7* Morphine addiction_Homo sapiens_hsa050322.42861374
8Olfactory transduction_Homo sapiens_hsa047402.36593208
9Circadian entrainment_Homo sapiens_hsa047132.30044671
10Salivary secretion_Homo sapiens_hsa049702.21430499
11Taste transduction_Homo sapiens_hsa047422.15285049
12Nitrogen metabolism_Homo sapiens_hsa009102.07845028
13Long-term potentiation_Homo sapiens_hsa047202.05075785
14Insulin secretion_Homo sapiens_hsa049111.96693027
15Gastric acid secretion_Homo sapiens_hsa049711.87007314
16Amphetamine addiction_Homo sapiens_hsa050311.86588248
17* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.83485002
18Oxidative phosphorylation_Homo sapiens_hsa001901.82590575
19Renin secretion_Homo sapiens_hsa049241.76506308
20Fatty acid biosynthesis_Homo sapiens_hsa000611.75135316
21Serotonergic synapse_Homo sapiens_hsa047261.73308308
22Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.71930505
23Calcium signaling pathway_Homo sapiens_hsa040201.64681723
24Cardiac muscle contraction_Homo sapiens_hsa042601.59546543
25Dopaminergic synapse_Homo sapiens_hsa047281.58007002
26Cocaine addiction_Homo sapiens_hsa050301.57574846
27Long-term depression_Homo sapiens_hsa047301.55570305
28Collecting duct acid secretion_Homo sapiens_hsa049661.55212998
29Cholinergic synapse_Homo sapiens_hsa047251.43438201
30Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.36385458
31Parkinsons disease_Homo sapiens_hsa050121.34505728
32Alzheimers disease_Homo sapiens_hsa050101.34189167
33Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.28181375
34Aldosterone synthesis and secretion_Homo sapiens_hsa049251.23469926
35Vitamin B6 metabolism_Homo sapiens_hsa007501.19135429
36Oxytocin signaling pathway_Homo sapiens_hsa049211.16584136
37Gap junction_Homo sapiens_hsa045401.12955738
38cAMP signaling pathway_Homo sapiens_hsa040241.11115662
39Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.06183718
40Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.02304310
41GnRH signaling pathway_Homo sapiens_hsa049121.01883018
42Melanogenesis_Homo sapiens_hsa049161.01249980
43Pancreatic secretion_Homo sapiens_hsa049720.96096918
44Bile secretion_Homo sapiens_hsa049760.94211979
45Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.93147052
46Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.92700268
47Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.92658798
48Dorso-ventral axis formation_Homo sapiens_hsa043200.92640637
49Huntingtons disease_Homo sapiens_hsa050160.91594752
50Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.87989769
51Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.87702902
52Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.86913561
53Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.83754337
54Axon guidance_Homo sapiens_hsa043600.83533116
55Vibrio cholerae infection_Homo sapiens_hsa051100.82377578
56Thyroid hormone synthesis_Homo sapiens_hsa049180.81144004
57Phototransduction_Homo sapiens_hsa047440.77394271
58Estrogen signaling pathway_Homo sapiens_hsa049150.75140801
59Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.71804961
60Vascular smooth muscle contraction_Homo sapiens_hsa042700.71537256
61cGMP-PKG signaling pathway_Homo sapiens_hsa040220.71218552
62Dilated cardiomyopathy_Homo sapiens_hsa054140.67618060
63Rap1 signaling pathway_Homo sapiens_hsa040150.66889619
64Type I diabetes mellitus_Homo sapiens_hsa049400.66682749
65Ether lipid metabolism_Homo sapiens_hsa005650.66062557
66Phosphatidylinositol signaling system_Homo sapiens_hsa040700.65145418
67Mineral absorption_Homo sapiens_hsa049780.64782386
68Inositol phosphate metabolism_Homo sapiens_hsa005620.63215379
69ErbB signaling pathway_Homo sapiens_hsa040120.62684595
70Neurotrophin signaling pathway_Homo sapiens_hsa047220.62642811
71Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.62476569
72Type II diabetes mellitus_Homo sapiens_hsa049300.61710350
73Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.60695653
74Butanoate metabolism_Homo sapiens_hsa006500.58317184
75Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.57594410
76Phospholipase D signaling pathway_Homo sapiens_hsa040720.57070480
77Histidine metabolism_Homo sapiens_hsa003400.56953246
78Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.55980352
79Fatty acid metabolism_Homo sapiens_hsa012120.54498817
80Arginine and proline metabolism_Homo sapiens_hsa003300.54221833
81Glycerophospholipid metabolism_Homo sapiens_hsa005640.54136427
82African trypanosomiasis_Homo sapiens_hsa051430.53628732
83Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.53600297
84Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.53246534
85Circadian rhythm_Homo sapiens_hsa047100.53051020
86Steroid biosynthesis_Homo sapiens_hsa001000.52891253
87VEGF signaling pathway_Homo sapiens_hsa043700.51159921
88Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.49995103
89Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.49840483
90Fatty acid elongation_Homo sapiens_hsa000620.47113912
91Rheumatoid arthritis_Homo sapiens_hsa053230.46891454
92Glioma_Homo sapiens_hsa052140.46630051
93beta-Alanine metabolism_Homo sapiens_hsa004100.45578787
94Carbohydrate digestion and absorption_Homo sapiens_hsa049730.45499961
95Endocytosis_Homo sapiens_hsa041440.43508839
96Choline metabolism in cancer_Homo sapiens_hsa052310.42865086
97Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.42330985
98MAPK signaling pathway_Homo sapiens_hsa040100.40538051
99Glucagon signaling pathway_Homo sapiens_hsa049220.40501725
100Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.39026056
101Ovarian steroidogenesis_Homo sapiens_hsa049130.38045216
102Prion diseases_Homo sapiens_hsa050200.36591417
103Hedgehog signaling pathway_Homo sapiens_hsa043400.36275883
104Ras signaling pathway_Homo sapiens_hsa040140.35992999
105Wnt signaling pathway_Homo sapiens_hsa043100.34835446
106Arginine biosynthesis_Homo sapiens_hsa002200.34362852
107Oocyte meiosis_Homo sapiens_hsa041140.33945358
108Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.31854696
109Alcoholism_Homo sapiens_hsa050340.31597036
110Thyroid hormone signaling pathway_Homo sapiens_hsa049190.30552760
111Sphingolipid signaling pathway_Homo sapiens_hsa040710.28740667
112SNARE interactions in vesicular transport_Homo sapiens_hsa041300.27871584
113Longevity regulating pathway - mammal_Homo sapiens_hsa042110.24930072
114mTOR signaling pathway_Homo sapiens_hsa041500.24568118
115Hippo signaling pathway_Homo sapiens_hsa043900.22675886
116AMPK signaling pathway_Homo sapiens_hsa041520.19687421
117Tight junction_Homo sapiens_hsa045300.18418640
118Insulin signaling pathway_Homo sapiens_hsa049100.17712049
119Endometrial cancer_Homo sapiens_hsa052130.16897264

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