GABRG2

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





Description: This gene encodes a gamma-aminobutyric acid (GABA) receptor. GABA is the major inhibitory neurotransmitter in the mammlian brain, where it acts at GABA-A receptors, which are ligand-gated chloride channels. GABA-A receptors are pentameric, consisting of proteins from several subunit classes: alpha, beta, gamma, delta and rho. Mutations in this gene have been associated with epilepsy and febrile seizures. Multiple transcript variants encoding different isoforms have been identified for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1vocalization behavior (GO:0071625)5.93860898
2regulation of short-term neuronal synaptic plasticity (GO:0048172)5.76468146
3sodium ion export (GO:0071436)5.61130215
4regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.59818306
5synaptic vesicle exocytosis (GO:0016079)5.56955577
6neuron cell-cell adhesion (GO:0007158)5.52948321
7regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)5.37906143
8positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.26882298
9neurotransmitter-gated ion channel clustering (GO:0072578)5.15122835
10protein localization to synapse (GO:0035418)5.14199912
11synaptic vesicle docking involved in exocytosis (GO:0016081)5.13055829
12glutamate secretion (GO:0014047)5.09923598
13regulation of glutamate receptor signaling pathway (GO:1900449)5.09649891
14regulation of synaptic vesicle exocytosis (GO:2000300)4.96416491
15presynaptic membrane assembly (GO:0097105)4.82408809
16neuronal action potential propagation (GO:0019227)4.78631251
17ionotropic glutamate receptor signaling pathway (GO:0035235)4.62351275
18negative regulation of synaptic transmission, GABAergic (GO:0032229)4.60733106
19locomotory exploration behavior (GO:0035641)4.56524404
20neurotransmitter secretion (GO:0007269)4.51546693
21glutamate receptor signaling pathway (GO:0007215)4.50898376
22presynaptic membrane organization (GO:0097090)4.46061232
23positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.38732291
24synaptic vesicle maturation (GO:0016188)4.38586351
25postsynaptic membrane organization (GO:0001941)4.36490805
26regulation of synaptic vesicle transport (GO:1902803)4.35286013
27* gamma-aminobutyric acid signaling pathway (GO:0007214)4.35280752
28* neuron-neuron synaptic transmission (GO:0007270)4.34621114
29synaptic transmission, glutamatergic (GO:0035249)4.33139805
30cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.32050434
31positive regulation of synapse maturation (GO:0090129)4.28749442
32cellular sodium ion homeostasis (GO:0006883)4.16657966
33L-amino acid import (GO:0043092)4.15174934
34potassium ion homeostasis (GO:0055075)4.10089776
35exploration behavior (GO:0035640)4.06206952
36gamma-aminobutyric acid transport (GO:0015812)3.96652712
37G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.95250582
38long-term synaptic potentiation (GO:0060291)3.93486179
39regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.91561892
40regulation of excitatory postsynaptic membrane potential (GO:0060079)3.90260375
41cerebellar granule cell differentiation (GO:0021707)3.84718097
42neuron recognition (GO:0008038)3.82377552
43positive regulation of dendritic spine morphogenesis (GO:0061003)3.82321580
44regulation of synaptic transmission, glutamatergic (GO:0051966)3.81277069
45amino acid import (GO:0043090)3.79019603
46regulation of postsynaptic membrane potential (GO:0060078)3.76501575
47regulation of long-term neuronal synaptic plasticity (GO:0048169)3.73398008
48potassium ion import (GO:0010107)3.72487888
49regulation of voltage-gated calcium channel activity (GO:1901385)3.71844606
50neurotransmitter transport (GO:0006836)3.69523387
51cell differentiation in hindbrain (GO:0021533)3.68454637
52cell communication by electrical coupling (GO:0010644)3.68446044
53neuronal ion channel clustering (GO:0045161)3.66895905
54positive regulation of membrane potential (GO:0045838)3.66411417
55membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.65687346
56regulation of neuronal synaptic plasticity (GO:0048168)3.65451480
57cerebellar Purkinje cell layer development (GO:0021680)3.61527218
58long-term memory (GO:0007616)3.60778419
59negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.58314449
60regulation of synapse maturation (GO:0090128)3.57371255
61positive regulation of synapse assembly (GO:0051965)3.57015959
62startle response (GO:0001964)3.55522511
63positive regulation of dendritic spine development (GO:0060999)3.53235588
64synaptic vesicle endocytosis (GO:0048488)3.51576880
65detection of calcium ion (GO:0005513)3.48733452
66cerebellar Purkinje cell differentiation (GO:0021702)3.48168441
67regulation of glutamate secretion (GO:0014048)3.47744572
68regulation of neurotransmitter secretion (GO:0046928)3.47716998
69proline transport (GO:0015824)3.45379717
70acidic amino acid transport (GO:0015800)3.43401956
71C4-dicarboxylate transport (GO:0015740)3.43004730
72energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.40516397
73ATP hydrolysis coupled proton transport (GO:0015991)3.40516397
74regulation of neurotransmitter levels (GO:0001505)3.39319978
75neurofilament cytoskeleton organization (GO:0060052)3.38731159
76regulation of synaptic plasticity (GO:0048167)3.37745187
77behavioral fear response (GO:0001662)3.37062344
78behavioral defense response (GO:0002209)3.37062344
79transmission of nerve impulse (GO:0019226)3.35956932
80positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.34203527
81central nervous system myelination (GO:0022010)3.33774478
82axon ensheathment in central nervous system (GO:0032291)3.33774478
83neurotransmitter uptake (GO:0001504)3.33308526
84behavioral response to cocaine (GO:0048148)3.32452348
85neuromuscular process controlling balance (GO:0050885)3.29562378
86positive regulation of neurotransmitter secretion (GO:0001956)3.29382734
87regulation of synapse structural plasticity (GO:0051823)3.28720956
88axonal fasciculation (GO:0007413)3.27831328
89transferrin transport (GO:0033572)3.26650418
90regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.24837119
91mechanosensory behavior (GO:0007638)3.23773189
92layer formation in cerebral cortex (GO:0021819)3.23247596
93synapse assembly (GO:0007416)3.23066115
94membrane depolarization (GO:0051899)3.21793113
95fear response (GO:0042596)3.21614620
96adult walking behavior (GO:0007628)3.20886063
97regulation of female receptivity (GO:0045924)3.20484669
98short-term memory (GO:0007614)3.19221783
99regulation of dendritic spine development (GO:0060998)3.18504926
100serotonin metabolic process (GO:0042428)3.18223315
101positive regulation of synaptic transmission (GO:0050806)3.18026677
102cellular potassium ion homeostasis (GO:0030007)3.18014465
103female mating behavior (GO:0060180)3.17764430
104synaptic vesicle transport (GO:0048489)3.17731098
105establishment of synaptic vesicle localization (GO:0097480)3.17731098
106positive regulation of neurotransmitter transport (GO:0051590)3.17669978
107positive regulation of phosphoprotein phosphatase activity (GO:0032516)3.17537141
108regulation of neurotransmitter transport (GO:0051588)3.16574636
109neuromuscular synaptic transmission (GO:0007274)3.16117168
110neuromuscular process controlling posture (GO:0050884)3.15649005
111* synaptic transmission (GO:0007268)3.14251481
112auditory behavior (GO:0031223)3.13159023
113positive regulation of synaptic transmission, GABAergic (GO:0032230)3.11093651
114positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.10366035
115membrane hyperpolarization (GO:0060081)3.09648038
116learning (GO:0007612)3.09483545
117regulation of vesicle fusion (GO:0031338)3.07612039
118regulation of dendritic spine morphogenesis (GO:0061001)3.06550644
119activation of protein kinase A activity (GO:0034199)3.06261432
120dendritic spine morphogenesis (GO:0060997)3.05692243
121ferric iron transport (GO:0015682)3.04388409
122trivalent inorganic cation transport (GO:0072512)3.04388409
123regulation of synaptic transmission, GABAergic (GO:0032228)3.03902650
124negative regulation of dendrite morphogenesis (GO:0050774)3.03545107
125regulation of synaptic transmission (GO:0050804)3.03439767
126membrane depolarization during action potential (GO:0086010)3.01907200
127* response to histamine (GO:0034776)3.01642837
128regulation of synapse assembly (GO:0051963)2.99427767
129striatum development (GO:0021756)2.95654297
130response to auditory stimulus (GO:0010996)2.94437409
131regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.91932095

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.94783308
2GBX2_23144817_ChIP-Seq_PC3_Human4.48203903
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.11636290
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.02300034
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.99233505
6* TAF15_26573619_Chip-Seq_HEK293_Human2.72518361
7* REST_21632747_ChIP-Seq_MESCs_Mouse2.65636286
8SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.60555864
9EZH2_27304074_Chip-Seq_ESCs_Mouse2.50864835
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.50399862
11EZH2_18974828_ChIP-Seq_MESCs_Mouse2.50399862
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.50137028
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.49925948
14SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.49124740
15SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.37917121
16* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.36038029
17EED_16625203_ChIP-ChIP_MESCs_Mouse2.35499848
18SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.30541362
19MTF2_20144788_ChIP-Seq_MESCs_Mouse2.29265241
20NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.23421797
21CTBP1_25329375_ChIP-Seq_LNCAP_Human2.20949555
22REST_18959480_ChIP-ChIP_MESCs_Mouse2.18425710
23ZFP57_27257070_Chip-Seq_ESCs_Mouse2.18233363
24RARB_27405468_Chip-Seq_BRAIN_Mouse2.09670579
25ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.07327367
26TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.05627619
27SUZ12_27294783_Chip-Seq_ESCs_Mouse2.04290837
28EZH2_27294783_Chip-Seq_ESCs_Mouse2.02511644
29RNF2_27304074_Chip-Seq_ESCs_Mouse1.99706762
30DROSHA_22980978_ChIP-Seq_HELA_Human1.93189151
31SMAD4_21799915_ChIP-Seq_A2780_Human1.91736727
32* P300_19829295_ChIP-Seq_ESCs_Human1.84160730
33SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.83682532
34IKZF1_21737484_ChIP-ChIP_HCT116_Human1.81554530
35AR_21572438_ChIP-Seq_LNCaP_Human1.80705878
36CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.80028735
37BMI1_23680149_ChIP-Seq_NPCS_Mouse1.78778849
38POU3F2_20337985_ChIP-ChIP_501MEL_Human1.72063841
39GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.72056557
40FUS_26573619_Chip-Seq_HEK293_Human1.66068821
41PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.64672901
42CBX2_27304074_Chip-Seq_ESCs_Mouse1.61947627
43RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.61805191
44VDR_22108803_ChIP-Seq_LS180_Human1.55466677
45SMAD3_21741376_ChIP-Seq_EPCs_Human1.53604868
46* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.49835269
47RNF2_27304074_Chip-Seq_NSC_Mouse1.48020400
48IGF1R_20145208_ChIP-Seq_DFB_Human1.47574287
49PIAS1_25552417_ChIP-Seq_VCAP_Human1.47463284
50AR_25329375_ChIP-Seq_VCAP_Human1.46798186
51ZNF274_21170338_ChIP-Seq_K562_Hela1.46674236
52SMAD_19615063_ChIP-ChIP_OVARY_Human1.44392326
53* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.44118675
54OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.43891008
55PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.41455434
56* SOX2_21211035_ChIP-Seq_LN229_Gbm1.38803592
57SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.36061316
58MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.32898919
59RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.32295265
60NR3C1_23031785_ChIP-Seq_PC12_Mouse1.30760210
61ER_23166858_ChIP-Seq_MCF-7_Human1.29835269
62* STAT3_23295773_ChIP-Seq_U87_Human1.28098749
63UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.27764110
64* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.25453077
65TCF4_23295773_ChIP-Seq_U87_Human1.21726401
66ERG_21242973_ChIP-ChIP_JURKAT_Human1.20253235
67THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.19022475
68P53_22127205_ChIP-Seq_FIBROBLAST_Human1.16662861
69AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.16373467
70CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16219691
71ARNT_22903824_ChIP-Seq_MCF-7_Human1.15273789
72RUNX2_22187159_ChIP-Seq_PCA_Human1.13703227
73JUN_21703547_ChIP-Seq_K562_Human1.13211882
74PRDM14_20953172_ChIP-Seq_ESCs_Human1.11528601
75DNAJC2_21179169_ChIP-ChIP_NT2_Human1.10474671
76NANOG_18555785_Chip-Seq_ESCs_Mouse1.10060334
77AR_19668381_ChIP-Seq_PC3_Human1.09924399
78* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.08378698
79RING1B_27294783_Chip-Seq_ESCs_Mouse1.07751879
80TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.07733995
81MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.07337022
82ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.06974183
83LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02514327
84* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.01994113
85AHR_22903824_ChIP-Seq_MCF-7_Human1.01559234
86GATA1_26923725_Chip-Seq_HPCs_Mouse1.00729848
87CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.00469627
88YAP1_20516196_ChIP-Seq_MESCs_Mouse1.00417487
89TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.97619827
90POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.97619827
91KDM2B_26808549_Chip-Seq_REH_Human0.97587843
92PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.97468707
93MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.97255277
94MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.96954719
95TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96933063
96EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.96791932
97FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.95953235
98TP53_18474530_ChIP-ChIP_U2OS_Human0.94909642
99* SOX9_26525672_Chip-Seq_HEART_Mouse0.94666634
100E2F1_18555785_Chip-Seq_ESCs_Mouse0.93291725
101BCAT_22108803_ChIP-Seq_LS180_Human0.93177372
102NR3C1_21868756_ChIP-Seq_MCF10A_Human0.92574368
103EWS_26573619_Chip-Seq_HEK293_Human0.90875824
104EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.90643964
105ZNF217_24962896_ChIP-Seq_MCF-7_Human0.90136301
106CDX2_19796622_ChIP-Seq_MESCs_Mouse0.89897666
107CBP_20019798_ChIP-Seq_JUKART_Human0.89849722
108TET1_21490601_ChIP-Seq_MESCs_Mouse0.89642079
109ZFP281_18757296_ChIP-ChIP_E14_Mouse0.89387572
110RING1B_27294783_Chip-Seq_NPCs_Mouse0.86824687
111CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.85289447
112CTNNB1_20460455_ChIP-Seq_HCT116_Human0.84830154
113SMAD4_21741376_ChIP-Seq_HESCs_Human0.83757727
114TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.82185173

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003880_abnormal_central_pattern5.52334771
2MP0004859_abnormal_synaptic_plasticity5.36291251
3* MP0003635_abnormal_synaptic_transmissio4.02305903
4MP0009046_muscle_twitch3.56208371
5* MP0009745_abnormal_behavioral_response3.54839448
6MP0001968_abnormal_touch/_nociception3.33976022
7* MP0002064_seizures3.30235441
8* MP0002063_abnormal_learning/memory/cond3.28159768
9MP0004270_analgesia3.23336113
10* MP0002572_abnormal_emotion/affect_behav2.94561864
11MP0002736_abnormal_nociception_after2.86940540
12* MP0002272_abnormal_nervous_system2.67563789
13MP0002735_abnormal_chemical_nociception2.65142965
14MP0002734_abnormal_mechanical_nocicepti2.60641679
15MP0001486_abnormal_startle_reflex2.52109659
16MP0001501_abnormal_sleep_pattern2.46844125
17MP0005423_abnormal_somatic_nervous2.36613086
18MP0001440_abnormal_grooming_behavior2.34715019
19MP0002067_abnormal_sensory_capabilities2.27789037
20MP0002822_catalepsy2.25837185
21MP0006276_abnormal_autonomic_nervous2.20934321
22MP0009780_abnormal_chondrocyte_physiolo1.94120092
23MP0001970_abnormal_pain_threshold1.94077901
24MP0002184_abnormal_innervation1.93830790
25MP0002733_abnormal_thermal_nociception1.92959690
26MP0005646_abnormal_pituitary_gland1.90815836
27MP0001984_abnormal_olfaction1.87124331
28MP0003787_abnormal_imprinting1.85678236
29MP0003879_abnormal_hair_cell1.82071379
30MP0002557_abnormal_social/conspecific_i1.79694083
31MP0001529_abnormal_vocalization1.78578124
32MP0004924_abnormal_behavior1.75852652
33MP0005386_behavior/neurological_phenoty1.75852652
34MP0001188_hyperpigmentation1.74982859
35MP0000778_abnormal_nervous_system1.70836179
36MP0008569_lethality_at_weaning1.69273437
37MP0003122_maternal_imprinting1.65175265
38MP0003329_amyloid_beta_deposits1.56781486
39MP0004811_abnormal_neuron_physiology1.53877952
40MP0004142_abnormal_muscle_tone1.50839683
41MP0005645_abnormal_hypothalamus_physiol1.46588236
42MP0002837_dystrophic_cardiac_calcinosis1.42778270
43* MP0002066_abnormal_motor_capabilities/c1.39405440
44MP0001502_abnormal_circadian_rhythm1.39178983
45MP0001905_abnormal_dopamine_level1.37442324
46MP0000955_abnormal_spinal_cord1.36846460
47MP0002876_abnormal_thyroid_physiology1.35750616
48* MP0002882_abnormal_neuron_morphology1.34385067
49MP0002909_abnormal_adrenal_gland1.32478436
50MP0003690_abnormal_glial_cell1.30596715
51MP0010386_abnormal_urinary_bladder1.30003308
52MP0000920_abnormal_myelination1.29525882
53MP0005551_abnormal_eye_electrophysiolog1.26237920
54MP0003123_paternal_imprinting1.18577428
55MP0003633_abnormal_nervous_system1.12787382
56MP0004858_abnormal_nervous_system1.12700374
57MP0004147_increased_porphyrin_level1.11909587
58MP0000751_myopathy1.09667946
59MP0004742_abnormal_vestibular_system1.04420558
60MP0002152_abnormal_brain_morphology1.03312850
61MP0000569_abnormal_digit_pigmentation1.02927056
62MP0000013_abnormal_adipose_tissue1.00933951
63MP0003631_nervous_system_phenotype1.00441241
64MP0002229_neurodegeneration0.97879826
65MP0001963_abnormal_hearing_physiology0.97467485
66MP0008872_abnormal_physiological_respon0.96691615
67MP0004215_abnormal_myocardial_fiber0.94098153
68MP0004145_abnormal_muscle_electrophysio0.92793521
69MP0004085_abnormal_heartbeat0.91642905
70MP0002069_abnormal_eating/drinking_beha0.91385034
71MP0004885_abnormal_endolymph0.90617573
72MP0005499_abnormal_olfactory_system0.87892498
73MP0005394_taste/olfaction_phenotype0.87892498
74MP0000631_abnormal_neuroendocrine_gland0.85025247
75MP0003183_abnormal_peptide_metabolism0.83014167
76MP0002752_abnormal_somatic_nervous0.82384444
77MP0004484_altered_response_of0.79828316
78MP0005171_absent_coat_pigmentation0.79267590
79MP0001664_abnormal_digestion0.76695246
80MP0005535_abnormal_body_temperature0.74943426
81MP0004233_abnormal_muscle_weight0.74295204
82MP0001986_abnormal_taste_sensitivity0.73524906
83MP0008877_abnormal_DNA_methylation0.71649356
84MP0005623_abnormal_meninges_morphology0.70996832
85MP0003632_abnormal_nervous_system0.70273337
86* MP0008874_decreased_physiological_sensi0.69569191
87MP0001346_abnormal_lacrimal_gland0.66575033
88MP0003121_genomic_imprinting0.66046026
89MP0000026_abnormal_inner_ear0.65831514
90MP0003646_muscle_fatigue0.65374647
91MP0001177_atelectasis0.64892352
92MP0000604_amyloidosis0.64782721
93MP0003634_abnormal_glial_cell0.62488552
94MP0002090_abnormal_vision0.61396378
95MP0002638_abnormal_pupillary_reflex0.60309427
96MP0001485_abnormal_pinna_reflex0.60073694
97MP0001943_abnormal_respiration0.59906528
98MP0003137_abnormal_impulse_conducting0.57845504
99* MP0010768_mortality/aging0.54276318
100MP0001299_abnormal_eye_distance/0.53522035
101* MP0010770_preweaning_lethality0.53492206
102* MP0002082_postnatal_lethality0.53492206
103MP0005187_abnormal_penis_morphology0.53389142
104MP0000566_synostosis0.53248778
105MP0006035_abnormal_mitochondrial_morpho0.53117099
106MP0004043_abnormal_pH_regulation0.52895664
107MP0001348_abnormal_lacrimal_gland0.52870447
108MP0006072_abnormal_retinal_apoptosis0.52511116
109MP0005409_darkened_coat_color0.51716021
110* MP0010769_abnormal_survival0.51061676
111MP0003861_abnormal_nervous_system0.49811116
112MP0002332_abnormal_exercise_endurance0.49498326
113MP0003956_abnormal_body_size0.48929322
114MP0005167_abnormal_blood-brain_barrier0.47411883

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)9.14370597
2Epileptic encephalopathy (HP:0200134)6.21339773
3* Focal seizures (HP:0007359)5.39512145
4* Atonic seizures (HP:0010819)5.22968455
5Hyperventilation (HP:0002883)5.19240160
6Myokymia (HP:0002411)5.07785618
7* Febrile seizures (HP:0002373)4.92641157
8Visual hallucinations (HP:0002367)4.62792793
9* Absence seizures (HP:0002121)4.48264663
10* Dialeptic seizures (HP:0011146)4.18193500
11Progressive cerebellar ataxia (HP:0002073)4.15887116
12Broad-based gait (HP:0002136)3.87557204
13Intention tremor (HP:0002080)3.71356468
14* Generalized tonic-clonic seizures (HP:0002069)3.67515938
15Gaze-evoked nystagmus (HP:0000640)3.52398474
16Poor eye contact (HP:0000817)3.14607560
17Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.13501553
18Degeneration of the lateral corticospinal tracts (HP:0002314)3.13501553
19Truncal ataxia (HP:0002078)3.11781909
20Dysdiadochokinesis (HP:0002075)3.11199792
21Neurofibrillary tangles (HP:0002185)3.10977416
22Abnormal eating behavior (HP:0100738)3.10100180
23Progressive inability to walk (HP:0002505)3.09854328
24Amblyopia (HP:0000646)3.08398629
25Excessive salivation (HP:0003781)3.01734853
26Drooling (HP:0002307)3.01734853
27Abnormal social behavior (HP:0012433)2.91921670
28Impaired social interactions (HP:0000735)2.91921670
29Polyphagia (HP:0002591)2.91803671
30Cerebral hypomyelination (HP:0006808)2.88929301
31Abnormal hair whorl (HP:0010721)2.87118213
32Epileptiform EEG discharges (HP:0011182)2.85428627
33Inability to walk (HP:0002540)2.82928821
34Gait imbalance (HP:0002141)2.80626156
35Impaired vibration sensation in the lower limbs (HP:0002166)2.80322645
36Akinesia (HP:0002304)2.78411441
37Pheochromocytoma (HP:0002666)2.77798571
38Protruding tongue (HP:0010808)2.71164610
39Abnormality of binocular vision (HP:0011514)2.70908846
40Diplopia (HP:0000651)2.70908846
41Dysmetric saccades (HP:0000641)2.70861419
42Action tremor (HP:0002345)2.69090805
43Papilledema (HP:0001085)2.67561906
44Anxiety (HP:0000739)2.65121086
45Lower limb muscle weakness (HP:0007340)2.62551919
46Depression (HP:0000716)2.59687006
47EEG with generalized epileptiform discharges (HP:0011198)2.58942584
48Neuroendocrine neoplasm (HP:0100634)2.54075687
49Dysmetria (HP:0001310)2.51980127
50Fetal akinesia sequence (HP:0001989)2.50318009
51Scanning speech (HP:0002168)2.50276267
52Absent speech (HP:0001344)2.49642137
53Congenital primary aphakia (HP:0007707)2.46988976
54Medial flaring of the eyebrow (HP:0010747)2.46947517
55Neuronal loss in central nervous system (HP:0002529)2.45583195
56Status epilepticus (HP:0002133)2.45116128
57Impaired smooth pursuit (HP:0007772)2.44487040
58Urinary bladder sphincter dysfunction (HP:0002839)2.43736837
59Acute necrotizing encephalopathy (HP:0006965)2.43184924
60Annular pancreas (HP:0001734)2.41613727
61Abnormality of saccadic eye movements (HP:0000570)2.40592648
62Craniofacial dystonia (HP:0012179)2.40258071
63Abnormal mitochondria in muscle tissue (HP:0008316)2.39999496
64Hemiparesis (HP:0001269)2.36645159
65Morphological abnormality of the pyramidal tract (HP:0002062)2.34932196
66Nephrogenic diabetes insipidus (HP:0009806)2.34308653
67Termporal pattern (HP:0011008)2.34072632
68Insidious onset (HP:0003587)2.34072632
69Hypsarrhythmia (HP:0002521)2.32117762
70Poor suck (HP:0002033)2.31518468
71Progressive macrocephaly (HP:0004481)2.31433568
72Tetraplegia (HP:0002445)2.30948006
73Abnormality of the lower motor neuron (HP:0002366)2.30741152
74Postural tremor (HP:0002174)2.30634056
75Supranuclear gaze palsy (HP:0000605)2.26638905
76Ankle clonus (HP:0011448)2.25833121
77Limb dystonia (HP:0002451)2.25783914
78Sleep apnea (HP:0010535)2.24967822
79Genetic anticipation (HP:0003743)2.22441703
80Mutism (HP:0002300)2.22390396
81Peripheral hypomyelination (HP:0007182)2.22310031
82Bradykinesia (HP:0002067)2.21497934
83Blue irides (HP:0000635)2.21271290
84Failure to thrive in infancy (HP:0001531)2.18135022
85Postural instability (HP:0002172)2.15429264
86Hyperthyroidism (HP:0000836)2.15405975
87Clonus (HP:0002169)2.14239028
88Specific learning disability (HP:0001328)2.13382912
89Urinary urgency (HP:0000012)2.13114506
90Obstructive sleep apnea (HP:0002870)2.12399817
91Abnormality of ocular smooth pursuit (HP:0000617)2.12192533
92Generalized myoclonic seizures (HP:0002123)2.10562893
93CNS hypomyelination (HP:0003429)2.08725049
94Horizontal nystagmus (HP:0000666)2.07155404
95Abnormality of the corticospinal tract (HP:0002492)2.05351984
96Rigidity (HP:0002063)2.03742124
97Stereotypic behavior (HP:0000733)2.02179200
98Abnormality of salivation (HP:0100755)2.02160751
99Narrow nasal bridge (HP:0000446)2.00974440
100Impaired vibratory sensation (HP:0002495)2.00270542
101Spastic gait (HP:0002064)1.99988615
102Amyotrophic lateral sclerosis (HP:0007354)1.99705529
103Esotropia (HP:0000565)1.95701180
104Limb ataxia (HP:0002070)1.93778847
105Resting tremor (HP:0002322)1.93263965
106Apathy (HP:0000741)1.92334557
107Spastic tetraplegia (HP:0002510)1.92129446
108Spastic tetraparesis (HP:0001285)1.90259191
109Abnormality of the labia minora (HP:0012880)1.90117375
110Gait ataxia (HP:0002066)1.90011983
111Hemiplegia (HP:0002301)1.89845523
112Incomplete penetrance (HP:0003829)1.89726322
113Torticollis (HP:0000473)1.87642578
114Genital tract atresia (HP:0001827)1.86246713
115Choreoathetosis (HP:0001266)1.86229380
116Mitochondrial inheritance (HP:0001427)1.85970034
117Cerebral inclusion bodies (HP:0100314)1.85041995
118Oligomenorrhea (HP:0000876)1.85031224
119Psychosis (HP:0000709)1.84864861
120Memory impairment (HP:0002354)1.83132624
121Vaginal atresia (HP:0000148)1.82935037
122Thickened helices (HP:0000391)1.81948075
123Absent/shortened dynein arms (HP:0200106)1.81925531
124Dynein arm defect of respiratory motile cilia (HP:0012255)1.81925531
125Hypoventilation (HP:0002791)1.81554601
126Delusions (HP:0000746)1.81086537
127Focal dystonia (HP:0004373)1.80163567
128Ventricular fibrillation (HP:0001663)1.79740859
129Poor coordination (HP:0002370)1.79513829
130Sensory axonal neuropathy (HP:0003390)1.76644453
131Dysarthria (HP:0001260)1.75756216
132Rapidly progressive (HP:0003678)1.74182675
133Diminished motivation (HP:0000745)1.72980631
134Agnosia (HP:0010524)1.71426137
135Increased circulating renin level (HP:0000848)1.70596698

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK5.56089618
2NTRK34.06035253
3EPHA43.77428811
4MAP3K43.39154578
5MAP2K73.30141510
6MAP3K122.91552007
7MARK12.69780338
8MAP3K92.57614685
9DAPK22.47180289
10CDK192.24212401
11MINK12.22672601
12PLK22.11930950
13MAP2K42.09966523
14NTRK21.90475536
15DAPK11.90380672
16AKT31.88968054
17RIPK41.77640381
18CCNB11.68566103
19PNCK1.66144605
20PRPF4B1.52622428
21GRK51.51533289
22PAK61.49374460
23MAPK131.43028667
24ARAF1.35013843
25OXSR11.34740010
26KSR11.32684430
27CDK51.28100194
28PRKCG1.27765026
29TNIK1.25833593
30NME11.23939026
31CAMKK21.23326969
32SIK21.10352361
33CAMKK11.07708225
34KSR21.06855069
35SIK31.05424026
36TSSK61.05372577
37FES1.05272078
38SGK21.03667976
39* CAMK2A1.02687260
40SGK2231.01846123
41SGK4941.01846123
42PDK30.96214391
43PDK40.96214391
44CAMK2B0.94317788
45BMPR20.92800707
46NTRK10.92074545
47PTK2B0.85456529
48BRAF0.84533288
49CDK180.82332277
50UHMK10.77985883
51CSNK1A1L0.77464968
52CDK150.76153645
53CDK140.75889528
54CSNK1G30.73725168
55DYRK1A0.71852939
56CAMK10.70386384
57PHKG20.69086713
58PHKG10.69086713
59STK380.67137174
60LIMK10.66837132
61WNK30.65059168
62WNK10.64773638
63CDK11A0.64399978
64RIPK10.63780203
65MARK20.63075895
66GRK70.62001419
67BCR0.61522652
68FGR0.61494814
69SGK30.61405284
70SGK10.61397548
71ALK0.60244971
72TNK20.58002913
73CAMK2D0.57707283
74MAP3K130.57332718
75MAPK100.57194234
76* PRKCE0.56988623
77PKN10.56528178
78STK110.55966865
79RAF10.54017283
80ADRBK20.53888947
81PRKG10.53803739
82MAP3K110.53049934
83NEK60.52920942
84FER0.52367577
85CAMK2G0.52054245
86MAP3K20.51544153
87CSNK1G10.51041814
88CSNK1G20.50912008
89FGFR20.50837395
90PRKD30.49626697
91PDK20.49425045
92TESK10.47440337
93MAP3K60.47196365
94ADRBK10.46803169
95MAPK120.46482776
96DAPK30.46256961
97PAK30.44204856
98* PRKCA0.43418966
99CDK30.43169935
100MUSK0.42646779
101ERBB40.42364292
102ROCK20.41385000
103PRKCH0.41377355
104* FYN0.40926909
105CSNK1D0.40836949
106NEK10.40627267
107MAP2K10.38314403
108PRKACA0.37470747
109PINK10.36602526
110LATS20.36424471
111PRKCZ0.36252824
112CSNK1A10.35732107
113CSNK1E0.35160829
114TYRO30.34631135
115RET0.34170477
116* RPS6KA30.33917897
117CAMK40.33807750
118DYRK20.33784796
119PDK10.32883261
120* PRKCB0.32040400
121MYLK0.30966811
122PDPK10.30686764
123TRIM280.27631559
124MAPK80.26128981
125MAP3K10.25022217

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050334.51867586
2Synaptic vesicle cycle_Homo sapiens_hsa047213.93918080
3* Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.99706534
4Collecting duct acid secretion_Homo sapiens_hsa049662.90184114
5* GABAergic synapse_Homo sapiens_hsa047272.86158883
6* Morphine addiction_Homo sapiens_hsa050322.63848127
7Circadian entrainment_Homo sapiens_hsa047132.58333328
8Long-term potentiation_Homo sapiens_hsa047202.57281602
9Olfactory transduction_Homo sapiens_hsa047402.49624269
10Glutamatergic synapse_Homo sapiens_hsa047242.49546471
11Amphetamine addiction_Homo sapiens_hsa050312.33367095
12Taste transduction_Homo sapiens_hsa047422.20778033
13Dopaminergic synapse_Homo sapiens_hsa047282.09399651
14Salivary secretion_Homo sapiens_hsa049702.05333147
15Serotonergic synapse_Homo sapiens_hsa047261.89884079
16Insulin secretion_Homo sapiens_hsa049111.84598703
17Long-term depression_Homo sapiens_hsa047301.79553596
18Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.75744835
19Renin secretion_Homo sapiens_hsa049241.75426903
20Vibrio cholerae infection_Homo sapiens_hsa051101.72469208
21Oxidative phosphorylation_Homo sapiens_hsa001901.71239048
22Cholinergic synapse_Homo sapiens_hsa047251.64249703
23Calcium signaling pathway_Homo sapiens_hsa040201.59647176
24Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.58012324
25Gastric acid secretion_Homo sapiens_hsa049711.56549536
26Oxytocin signaling pathway_Homo sapiens_hsa049211.53461808
27Aldosterone synthesis and secretion_Homo sapiens_hsa049251.48783812
28* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.42502358
29Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.40054989
30Cocaine addiction_Homo sapiens_hsa050301.33176535
31Cardiac muscle contraction_Homo sapiens_hsa042601.31245421
32Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.29787913
33Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.25742939
34Alzheimers disease_Homo sapiens_hsa050101.23363645
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.23313394
36Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.20297262
37Gap junction_Homo sapiens_hsa045401.16606073
38Phototransduction_Homo sapiens_hsa047441.15834020
39GnRH signaling pathway_Homo sapiens_hsa049121.14917289
40Parkinsons disease_Homo sapiens_hsa050121.13923705
41cAMP signaling pathway_Homo sapiens_hsa040241.08870782
42Axon guidance_Homo sapiens_hsa043601.04067044
43Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.01683460
44Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.00767964
45Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.96919912
46Phosphatidylinositol signaling system_Homo sapiens_hsa040700.96243661
47Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.96189248
48Nitrogen metabolism_Homo sapiens_hsa009100.93677468
49cGMP-PKG signaling pathway_Homo sapiens_hsa040220.92022535
50Estrogen signaling pathway_Homo sapiens_hsa049150.88343309
51ErbB signaling pathway_Homo sapiens_hsa040120.86760205
52Type II diabetes mellitus_Homo sapiens_hsa049300.85564442
53Vascular smooth muscle contraction_Homo sapiens_hsa042700.83469250
54Rheumatoid arthritis_Homo sapiens_hsa053230.80388111
55Huntingtons disease_Homo sapiens_hsa050160.79556147
56Vitamin B6 metabolism_Homo sapiens_hsa007500.77159132
57Melanogenesis_Homo sapiens_hsa049160.76359116
58Glioma_Homo sapiens_hsa052140.74249489
59Type I diabetes mellitus_Homo sapiens_hsa049400.71131345
60Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.69796511
61Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.69314696
62Oocyte meiosis_Homo sapiens_hsa041140.65412753
63Bile secretion_Homo sapiens_hsa049760.64074443
64Dilated cardiomyopathy_Homo sapiens_hsa054140.63940835
65Pancreatic secretion_Homo sapiens_hsa049720.63893346
66Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.62196238
67MAPK signaling pathway_Homo sapiens_hsa040100.61908539
68Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.55894692
69Prion diseases_Homo sapiens_hsa050200.54582804
70Thyroid hormone synthesis_Homo sapiens_hsa049180.52259830
71Circadian rhythm_Homo sapiens_hsa047100.51958509
72Phagosome_Homo sapiens_hsa041450.51748006
73Glucagon signaling pathway_Homo sapiens_hsa049220.49426106
74Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.48688798
75Ras signaling pathway_Homo sapiens_hsa040140.46878626
76Phospholipase D signaling pathway_Homo sapiens_hsa040720.45929875
77Inositol phosphate metabolism_Homo sapiens_hsa005620.45589795
78Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.44970835
79Choline metabolism in cancer_Homo sapiens_hsa052310.43480015
80SNARE interactions in vesicular transport_Homo sapiens_hsa041300.40335328
81Alcoholism_Homo sapiens_hsa050340.40201217
82Dorso-ventral axis formation_Homo sapiens_hsa043200.39838641
83Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.39760911
84Mineral absorption_Homo sapiens_hsa049780.38588551
85Fatty acid biosynthesis_Homo sapiens_hsa000610.38563210
86Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.37926148
87Pyruvate metabolism_Homo sapiens_hsa006200.35417479
88Regulation of autophagy_Homo sapiens_hsa041400.34914680
89African trypanosomiasis_Homo sapiens_hsa051430.34761554
90Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.34403639
912-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.34292633
92Rap1 signaling pathway_Homo sapiens_hsa040150.33714565
93Thyroid hormone signaling pathway_Homo sapiens_hsa049190.33068768
94Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.30520867
95Butanoate metabolism_Homo sapiens_hsa006500.30374165
96Endocytosis_Homo sapiens_hsa041440.30239353
97Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.29148278
98Ovarian steroidogenesis_Homo sapiens_hsa049130.27023240
99Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.26026631
100Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.25257744
101Melanoma_Homo sapiens_hsa052180.24795848
102Neurotrophin signaling pathway_Homo sapiens_hsa047220.24407627
103Wnt signaling pathway_Homo sapiens_hsa043100.23930764
104Renal cell carcinoma_Homo sapiens_hsa052110.23102995
105VEGF signaling pathway_Homo sapiens_hsa043700.21707120
106Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.21583556
107Insulin signaling pathway_Homo sapiens_hsa049100.21381658
108Carbohydrate digestion and absorption_Homo sapiens_hsa049730.21359677
109Sphingolipid signaling pathway_Homo sapiens_hsa040710.20555242
110mTOR signaling pathway_Homo sapiens_hsa041500.18429481
111Arginine biosynthesis_Homo sapiens_hsa002200.17010994
112Arginine and proline metabolism_Homo sapiens_hsa003300.15584451
113Glycerophospholipid metabolism_Homo sapiens_hsa005640.12893325
114Histidine metabolism_Homo sapiens_hsa003400.10587604
115Ether lipid metabolism_Homo sapiens_hsa005650.10319322
116Longevity regulating pathway - mammal_Homo sapiens_hsa042110.09765682

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