GRIN2A

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 member of the glutamate-gated ion channel protein family. The encoded protein is an N-methyl-D-aspartate (NMDA) receptor subunit. NMDA receptors are both ligand-gated and voltage-dependent, and are involved in long-term potentiation, an activity-dependent increase in the efficiency of synaptic transmission thought to underlie certain kinds of memory and learning. These receptors are permeable to calcium ions, and activation results in a calcium influx into post-synaptic cells, which results in the activation of several signaling cascades. Disruption of this gene is associated with focal epilepsy and speech disorder with or without mental retardation. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.91054226
2synaptic vesicle docking involved in exocytosis (GO:0016081)5.89256358
3positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.77681924
4vocalization behavior (GO:0071625)5.72428227
5regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)5.68994632
6presynaptic membrane assembly (GO:0097105)5.53293345
7sodium ion export (GO:0071436)5.52963531
8protein localization to synapse (GO:0035418)5.51461032
9neurotransmitter-gated ion channel clustering (GO:0072578)5.46956128
10synaptic vesicle exocytosis (GO:0016079)5.46520707
11* ionotropic glutamate receptor signaling pathway (GO:0035235)5.42765976
12neuron cell-cell adhesion (GO:0007158)5.34207240
13regulation of glutamate receptor signaling pathway (GO:1900449)5.31374176
14glutamate secretion (GO:0014047)5.28501520
15* glutamate receptor signaling pathway (GO:0007215)5.20490113
16regulation of short-term neuronal synaptic plasticity (GO:0048172)5.18534466
17presynaptic membrane organization (GO:0097090)5.00102905
18gamma-aminobutyric acid signaling pathway (GO:0007214)4.92504281
19* synaptic transmission, glutamatergic (GO:0035249)4.91433080
20neuronal action potential propagation (GO:0019227)4.88417090
21* neuron-neuron synaptic transmission (GO:0007270)4.82443218
22L-amino acid import (GO:0043092)4.78068429
23response to histamine (GO:0034776)4.75732941
24postsynaptic membrane organization (GO:0001941)4.71805239
25positive regulation of synapse maturation (GO:0090129)4.69770679
26negative regulation of synaptic transmission, GABAergic (GO:0032229)4.65322572
27regulation of synaptic vesicle exocytosis (GO:2000300)4.63661175
28cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.59257623
29locomotory exploration behavior (GO:0035641)4.50197389
30long-term synaptic potentiation (GO:0060291)4.42584063
31G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.39161310
32* regulation of excitatory postsynaptic membrane potential (GO:0060079)4.34948251
33regulation of synaptic vesicle transport (GO:1902803)4.23948231
34behavioral fear response (GO:0001662)4.22593239
35behavioral defense response (GO:0002209)4.22593239
36regulation of long-term neuronal synaptic plasticity (GO:0048169)4.16536910
37* regulation of postsynaptic membrane potential (GO:0060078)4.12227103
38amino acid import (GO:0043090)4.09016725
39axon ensheathment in central nervous system (GO:0032291)4.07242713
40central nervous system myelination (GO:0022010)4.07242713
41membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.06975898
42potassium ion homeostasis (GO:0055075)4.05348593
43* regulation of synaptic plasticity (GO:0048167)4.01921832
44regulation of neuronal synaptic plasticity (GO:0048168)3.98950160
45cell communication by electrical coupling (GO:0010644)3.97216122
46positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.96457344
47exploration behavior (GO:0035640)3.96027562
48fear response (GO:0042596)3.95182755
49positive regulation of membrane potential (GO:0045838)3.95016174
50potassium ion import (GO:0010107)3.94922231
51cerebellar granule cell differentiation (GO:0021707)3.88425763
52cellular sodium ion homeostasis (GO:0006883)3.86003795
53positive regulation of neurotransmitter secretion (GO:0001956)3.86000086
54regulation of synapse maturation (GO:0090128)3.84578524
55neuronal ion channel clustering (GO:0045161)3.84003411
56neuron recognition (GO:0008038)3.83071073
57long-term memory (GO:0007616)3.82121608
58regulation of synaptic transmission, glutamatergic (GO:0051966)3.76770903
59neurotransmitter secretion (GO:0007269)3.76445207
60regulation of neurotransmitter levels (GO:0001505)3.75202553
61cochlea development (GO:0090102)3.74469753
62dendritic spine morphogenesis (GO:0060997)3.71980657
63neuromuscular process controlling balance (GO:0050885)3.67365721
64synaptic vesicle maturation (GO:0016188)3.66208340
65negative regulation of dendrite morphogenesis (GO:0050774)3.65325651
66long term synaptic depression (GO:0060292)3.63667132
67positive regulation of dendritic spine development (GO:0060999)3.62819691
68innervation (GO:0060384)3.62246182
69axonal fasciculation (GO:0007413)3.60298311
70regulation of glutamate secretion (GO:0014048)3.52843242
71regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.46125592
72regulation of Arp2/3 complex-mediated actin nucleation (GO:0034315)3.45712492
73* membrane depolarization (GO:0051899)3.42927482
74regulation of dendritic spine morphogenesis (GO:0061001)3.41649237
75positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.41364944
76neuromuscular process controlling posture (GO:0050884)3.40616750
77layer formation in cerebral cortex (GO:0021819)3.39941494
78detection of calcium ion (GO:0005513)3.39663011
79G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.39537134
80behavioral response to cocaine (GO:0048148)3.36757984
81neuromuscular synaptic transmission (GO:0007274)3.36740772
82* startle response (GO:0001964)3.35477610
83* learning (GO:0007612)3.33883990
84gamma-aminobutyric acid transport (GO:0015812)3.33791802
85proline transport (GO:0015824)3.33096650
86regulation of neurotransmitter secretion (GO:0046928)3.33073109
87positive regulation of neurotransmitter transport (GO:0051590)3.30532900
88cerebellar Purkinje cell differentiation (GO:0021702)3.30104528
89mechanosensory behavior (GO:0007638)3.30051252
90auditory behavior (GO:0031223)3.29666247
91negative regulation of amino acid transport (GO:0051956)3.29326406
92cell communication involved in cardiac conduction (GO:0086065)3.27525021
93membrane depolarization during action potential (GO:0086010)3.26634227
94positive regulation of synapse assembly (GO:0051965)3.24875593
95regulation of vesicle fusion (GO:0031338)3.24180949
96negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.21724174
97* synaptic transmission (GO:0007268)3.20806153
98positive regulation of synaptic transmission (GO:0050806)3.20480966
99regulation of dendritic spine development (GO:0060998)3.17531294
100cell differentiation in hindbrain (GO:0021533)3.16952813
101regulation of female receptivity (GO:0045924)3.16429491
102positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.16189964
103* regulation of synaptic transmission (GO:0050804)3.16045963
104neurotransmitter uptake (GO:0001504)3.15365430
105transmission of nerve impulse (GO:0019226)3.14955746
106chemosensory behavior (GO:0007635)3.12156870
107synaptic vesicle endocytosis (GO:0048488)3.10606800
108positive regulation of potassium ion transmembrane transport (GO:1901381)3.10004042
109regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.08959106
110regulation of synapse structural plasticity (GO:0051823)3.08622044
111adult walking behavior (GO:0007628)3.06355763
112* neuromuscular process (GO:0050905)3.04932120
113acidic amino acid transport (GO:0015800)3.04835107
114neurotransmitter transport (GO:0006836)3.04122826
115phosphorelay signal transduction system (GO:0000160)3.03950310
116female mating behavior (GO:0060180)3.02531166
117regulation of neurotransmitter transport (GO:0051588)3.00063547
118inner ear receptor cell development (GO:0060119)2.99205242
119response to auditory stimulus (GO:0010996)2.98904075
120cellular potassium ion homeostasis (GO:0030007)2.97843700
121cellular response to ammonium ion (GO:0071242)2.97257306
122dendrite development (GO:0016358)2.97238228
123transferrin transport (GO:0033572)2.96449529
124regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.96240094
125positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.93328304
126positive regulation of dendritic spine morphogenesis (GO:0061003)2.92543076
127regulation of synapse assembly (GO:0051963)2.92297038
128serotonin receptor signaling pathway (GO:0007210)2.91335810
129negative regulation of dendrite development (GO:2000171)2.90809186
130dendritic spine organization (GO:0097061)2.89572679
131regulation of voltage-gated calcium channel activity (GO:1901385)2.89296004
132* learning or memory (GO:0007611)2.88633472

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.49429936
2GBX2_23144817_ChIP-Seq_PC3_Human5.09646194
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.12148067
4* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.02022997
5* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.98928706
6* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.68804546
7TAF15_26573619_Chip-Seq_HEK293_Human2.49522834
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.48921158
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.48921158
10* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.47877824
11* REST_21632747_ChIP-Seq_MESCs_Mouse2.47158223
12* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.38492321
13* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.36375372
14* EED_16625203_ChIP-ChIP_MESCs_Mouse2.34657097
15* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.29468509
16* CTBP1_25329375_ChIP-Seq_LNCAP_Human2.28458640
17* EZH2_27304074_Chip-Seq_ESCs_Mouse2.26994201
18* RARB_27405468_Chip-Seq_BRAIN_Mouse2.25411153
19* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.25179604
20ZFP57_27257070_Chip-Seq_ESCs_Mouse2.22056364
21TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.21759793
22* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.21179840
23DROSHA_22980978_ChIP-Seq_HELA_Human2.09678653
24* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.04685944
25* SMAD4_21799915_ChIP-Seq_A2780_Human2.04148758
26GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.98893614
27ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.98190511
28* P300_19829295_ChIP-Seq_ESCs_Human1.95902531
29* RNF2_27304074_Chip-Seq_ESCs_Mouse1.95227913
30* REST_18959480_ChIP-ChIP_MESCs_Mouse1.93076703
31IKZF1_21737484_ChIP-ChIP_HCT116_Human1.91170217
32* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.88499950
33FUS_26573619_Chip-Seq_HEK293_Human1.86564142
34EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.85977391
35* EZH2_27294783_Chip-Seq_ESCs_Mouse1.85541443
36POU3F2_20337985_ChIP-ChIP_501MEL_Human1.83978727
37GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.78065451
38PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.74573451
39NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.70379045
40AR_21572438_ChIP-Seq_LNCaP_Human1.66944805
41* SMAD3_21741376_ChIP-Seq_EPCs_Human1.65392527
42SMAD_19615063_ChIP-ChIP_OVARY_Human1.57727684
43PIAS1_25552417_ChIP-Seq_VCAP_Human1.56926606
44AR_25329375_ChIP-Seq_VCAP_Human1.54713631
45* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.54527404
46* RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.54394494
47SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.54005796
48MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.52488779
49VDR_22108803_ChIP-Seq_LS180_Human1.52161862
50CBX2_27304074_Chip-Seq_ESCs_Mouse1.49333466
51BMI1_23680149_ChIP-Seq_NPCS_Mouse1.48944315
52CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.46660054
53OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.46503593
54TOP2B_26459242_ChIP-Seq_MCF-7_Human1.46412292
55STAT3_23295773_ChIP-Seq_U87_Human1.42163243
56* PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.38773574
57* RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.37258938
58* SOX2_21211035_ChIP-Seq_LN229_Gbm1.35782472
59SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34876130
60TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.34071914
61* TCF4_23295773_ChIP-Seq_U87_Human1.33149109
62TP53_16413492_ChIP-PET_HCT116_Human1.31463107
63NR3C1_23031785_ChIP-Seq_PC12_Mouse1.31440560
64ZNF274_21170338_ChIP-Seq_K562_Hela1.31318725
65CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.28679368
66* PRDM14_20953172_ChIP-Seq_ESCs_Human1.27278770
67ARNT_22903824_ChIP-Seq_MCF-7_Human1.26881368
68TP53_18474530_ChIP-ChIP_U2OS_Human1.26562702
69RNF2_27304074_Chip-Seq_NSC_Mouse1.23272806
70AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.23256579
71NANOG_18555785_Chip-Seq_ESCs_Mouse1.23152022
72* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.22995354
73* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.22776345
74TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.21898320
75THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.19454319
76IGF1R_20145208_ChIP-Seq_DFB_Human1.19212061
77PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.17245871
78TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16724322
79ER_23166858_ChIP-Seq_MCF-7_Human1.16061430
80RUNX2_22187159_ChIP-Seq_PCA_Human1.14771603
81AHR_22903824_ChIP-Seq_MCF-7_Human1.13431201
82ZNF217_24962896_ChIP-Seq_MCF-7_Human1.13314894
83* JUN_21703547_ChIP-Seq_K562_Human1.12734696
84* AR_19668381_ChIP-Seq_PC3_Human1.12246374
85BCAT_22108803_ChIP-Seq_LS180_Human1.11059457
86VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.10089484
87E2F1_18555785_Chip-Seq_ESCs_Mouse1.09410158
88EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.07650559
89RING1B_27294783_Chip-Seq_NPCs_Mouse1.07546032
90EWS_26573619_Chip-Seq_HEK293_Human1.06356117
91P53_22387025_ChIP-Seq_ESCs_Mouse1.05713095
92SOX9_26525672_Chip-Seq_HEART_Mouse1.05676613
93TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.05652282
94POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.05652282
95* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05043850
96CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04579193
97NR3C1_21868756_ChIP-Seq_MCF10A_Human1.04157241
98MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.03760390
99LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03504187
100CDX2_19796622_ChIP-Seq_MESCs_Mouse1.02895450
101P53_22127205_ChIP-Seq_FIBROBLAST_Human1.01993734
102CTNNB1_20460455_ChIP-Seq_HCT116_Human1.00897700
103MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.00793756
104KDM2B_26808549_Chip-Seq_REH_Human1.00040114
105GATA1_26923725_Chip-Seq_HPCs_Mouse1.00014984
106MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.99526339
107FLI1_27457419_Chip-Seq_LIVER_Mouse0.99504291
108DNAJC2_21179169_ChIP-ChIP_NT2_Human0.99345595
109SMAD3_21741376_ChIP-Seq_HESCs_Human0.98726975
110ERG_21242973_ChIP-ChIP_JURKAT_Human0.97852894
111CMYC_18555785_Chip-Seq_ESCs_Mouse0.97254735
112* RING1B_27294783_Chip-Seq_ESCs_Mouse0.97174851
113SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.95577156
114SMAD3_21741376_ChIP-Seq_ESCs_Human0.93968315
115EP300_21415370_ChIP-Seq_HL-1_Mouse0.90279300
116SMAD4_21741376_ChIP-Seq_HESCs_Human0.87671680
117* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.87595873
118KDM2B_26808549_Chip-Seq_K562_Human0.86889250
119CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.86311080
120* ZFP281_18757296_ChIP-ChIP_E14_Mouse0.84924814
121BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.83680320

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.75200580
2MP0003880_abnormal_central_pattern6.47810729
3* MP0003635_abnormal_synaptic_transmissio4.21998190
4MP0009745_abnormal_behavioral_response3.80514011
5MP0004270_analgesia3.70979098
6* MP0002063_abnormal_learning/memory/cond3.52265691
7MP0001968_abnormal_touch/_nociception3.46714423
8* MP0002064_seizures3.25045304
9MP0002736_abnormal_nociception_after3.12050518
10* MP0002572_abnormal_emotion/affect_behav3.07166093
11MP0009046_muscle_twitch3.05873553
12MP0002272_abnormal_nervous_system2.71277233
13MP0001501_abnormal_sleep_pattern2.65555155
14MP0002735_abnormal_chemical_nociception2.57556783
15MP0001486_abnormal_startle_reflex2.41742175
16MP0001440_abnormal_grooming_behavior2.38263416
17MP0002734_abnormal_mechanical_nocicepti2.30294654
18MP0003787_abnormal_imprinting2.24548227
19MP0002067_abnormal_sensory_capabilities2.18414996
20MP0003879_abnormal_hair_cell2.14148217
21MP0001188_hyperpigmentation2.08571880
22MP0005646_abnormal_pituitary_gland1.84164997
23MP0009780_abnormal_chondrocyte_physiolo1.83477006
24MP0002822_catalepsy1.79799714
25MP0001970_abnormal_pain_threshold1.74503769
26MP0002733_abnormal_thermal_nociception1.70435771
27MP0000778_abnormal_nervous_system1.67161663
28MP0002184_abnormal_innervation1.66614761
29MP0005423_abnormal_somatic_nervous1.60528636
30MP0008569_lethality_at_weaning1.59513431
31MP0001529_abnormal_vocalization1.57939303
32MP0002557_abnormal_social/conspecific_i1.57746468
33MP0005386_behavior/neurological_phenoty1.57646497
34MP0004924_abnormal_behavior1.57646497
35MP0006276_abnormal_autonomic_nervous1.57500495
36MP0003690_abnormal_glial_cell1.48453897
37MP0004811_abnormal_neuron_physiology1.43376138
38MP0002876_abnormal_thyroid_physiology1.42796210
39MP0001905_abnormal_dopamine_level1.39077394
40MP0005171_absent_coat_pigmentation1.36392476
41MP0000920_abnormal_myelination1.35892200
42MP0003633_abnormal_nervous_system1.33530132
43MP0001984_abnormal_olfaction1.31910899
44* MP0002066_abnormal_motor_capabilities/c1.29495792
45MP0003329_amyloid_beta_deposits1.29106450
46MP0004142_abnormal_muscle_tone1.25168312
47MP0002882_abnormal_neuron_morphology1.24311732
48MP0001502_abnormal_circadian_rhythm1.21941611
49MP0002837_dystrophic_cardiac_calcinosis1.21924225
50MP0003122_maternal_imprinting1.19280140
51MP0000569_abnormal_digit_pigmentation1.18341840
52MP0000955_abnormal_spinal_cord1.16532532
53MP0002909_abnormal_adrenal_gland1.16489266
54MP0004858_abnormal_nervous_system1.13406452
55MP0000751_myopathy1.12085800
56MP0003631_nervous_system_phenotype1.10120216
57MP0005645_abnormal_hypothalamus_physiol1.07734517
58MP0004145_abnormal_muscle_electrophysio1.04216902
59MP0004147_increased_porphyrin_level1.02674026
60MP0008872_abnormal_physiological_respon1.02493412
61MP0008874_decreased_physiological_sensi1.02472273
62MP0001963_abnormal_hearing_physiology0.99076440
63MP0010386_abnormal_urinary_bladder0.98814995
64MP0004484_altered_response_of0.97808317
65MP0002638_abnormal_pupillary_reflex0.96129716
66MP0003634_abnormal_glial_cell0.95977793
67MP0002152_abnormal_brain_morphology0.95866472
68MP0003283_abnormal_digestive_organ0.93897885
69MP0008877_abnormal_DNA_methylation0.92820226
70MP0001485_abnormal_pinna_reflex0.89026539
71MP0004215_abnormal_myocardial_fiber0.88593269
72MP0002069_abnormal_eating/drinking_beha0.87310449
73MP0004085_abnormal_heartbeat0.85025488
74MP0005551_abnormal_eye_electrophysiolog0.82786483
75MP0001664_abnormal_digestion0.82533720
76MP0001348_abnormal_lacrimal_gland0.81363023
77MP0002229_neurodegeneration0.80110119
78MP0004885_abnormal_endolymph0.79811660
79MP0004510_myositis0.79444617
80MP0004742_abnormal_vestibular_system0.77440797
81MP0005409_darkened_coat_color0.74771181
82MP0001765_abnormal_ion_homeostasis0.72073412
83MP0001177_atelectasis0.71621448
84MP0003123_paternal_imprinting0.70889736
85MP0005535_abnormal_body_temperature0.70864720
86MP0001346_abnormal_lacrimal_gland0.69615012
87MP0006292_abnormal_olfactory_placode0.69104091
88MP0004130_abnormal_muscle_cell0.66338115
89MP0000026_abnormal_inner_ear0.65688023
90MP0002752_abnormal_somatic_nervous0.63041359
91MP0003137_abnormal_impulse_conducting0.62300055
92MP0003183_abnormal_peptide_metabolism0.62091686
93MP0003938_abnormal_ear_development0.61956407
94MP0004043_abnormal_pH_regulation0.61537861
95MP0001986_abnormal_taste_sensitivity0.61537040
96MP0000631_abnormal_neuroendocrine_gland0.60692226
97MP0003632_abnormal_nervous_system0.58886834
98MP0003646_muscle_fatigue0.58427179
99MP0003075_altered_response_to0.57769034
100MP0000013_abnormal_adipose_tissue0.57204159
101MP0000579_abnormal_nail_morphology0.55469378
102MP0003121_genomic_imprinting0.52987225
103MP0003861_abnormal_nervous_system0.52856553
104MP0001299_abnormal_eye_distance/0.52262246
105MP0004233_abnormal_muscle_weight0.52005649
106MP0005623_abnormal_meninges_morphology0.51325229
107MP0008004_abnormal_stomach_pH0.51265571
108MP0001943_abnormal_respiration0.50505932
109MP0005394_taste/olfaction_phenotype0.50086043
110MP0005499_abnormal_olfactory_system0.50086043
111MP0010770_preweaning_lethality0.49990209
112MP0002082_postnatal_lethality0.49990209
113MP0005595_abnormal_vascular_smooth0.49357194
114MP0010769_abnormal_survival0.49299009
115MP0000566_synostosis0.48532089
116MP0002090_abnormal_vision0.47219241
117MP0000604_amyloidosis0.47187887
118MP0010768_mortality/aging0.47146074
119MP0000015_abnormal_ear_pigmentation0.46359551

Predicted human phenotypes

RankGene SetZ-score
1Epileptic encephalopathy (HP:0200134)6.94858888
2Hyperventilation (HP:0002883)6.39059514
3Focal seizures (HP:0007359)6.19456622
4Atonic seizures (HP:0010819)6.18199090
5Febrile seizures (HP:0002373)5.62052507
6Myokymia (HP:0002411)5.37815502
7Absence seizures (HP:0002121)5.10515172
8Dialeptic seizures (HP:0011146)4.91724128
9Progressive cerebellar ataxia (HP:0002073)4.69796386
10Broad-based gait (HP:0002136)4.54282115
11Gaze-evoked nystagmus (HP:0000640)4.18210893
12Generalized tonic-clonic seizures (HP:0002069)4.13392549
13Visual hallucinations (HP:0002367)4.01000093
14Amblyopia (HP:0000646)3.80525722
15Protruding tongue (HP:0010808)3.61419110
16Ankle clonus (HP:0011448)3.58646195
17Papilledema (HP:0001085)3.58530086
18Hemiplegia (HP:0002301)3.53708551
19Spastic gait (HP:0002064)3.45625352
20Excessive salivation (HP:0003781)3.42174525
21Drooling (HP:0002307)3.42174525
22Limb dystonia (HP:0002451)3.32452226
23Neurofibrillary tangles (HP:0002185)3.26898859
24Impaired vibration sensation in the lower limbs (HP:0002166)3.23551587
25Torticollis (HP:0000473)3.18882328
26Poor eye contact (HP:0000817)3.15089425
27Dysmetric saccades (HP:0000641)3.11444473
28Impaired smooth pursuit (HP:0007772)3.08981184
29Mutism (HP:0002300)3.08565317
30Dysmetria (HP:0001310)3.07380074
31Abnormality of the corticospinal tract (HP:0002492)3.06030732
32Truncal ataxia (HP:0002078)3.05971254
33Absent speech (HP:0001344)3.05061926
34Dysdiadochokinesis (HP:0002075)3.00892792
35Scanning speech (HP:0002168)2.98163588
36Obstructive sleep apnea (HP:0002870)2.93045246
37Intention tremor (HP:0002080)2.92299103
38Genetic anticipation (HP:0003743)2.76400699
39Annular pancreas (HP:0001734)2.76154146
40Blue irides (HP:0000635)2.74736421
41Abnormal social behavior (HP:0012433)2.72084487
42Impaired social interactions (HP:0000735)2.72084487
43Fair hair (HP:0002286)2.71004813
44Abnormal eating behavior (HP:0100738)2.69995872
45Cerebral hypomyelination (HP:0006808)2.68524829
46Degeneration of the lateral corticospinal tracts (HP:0002314)2.67823261
47Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.67823261
48Inability to walk (HP:0002540)2.60560820
49Decreased circulating renin level (HP:0003351)2.56469379
50Tetraplegia (HP:0002445)2.52501073
51Depression (HP:0000716)2.49303351
52EEG with generalized epileptiform discharges (HP:0011198)2.49047801
53* Epileptiform EEG discharges (HP:0011182)2.49047801
54Impaired vibratory sensation (HP:0002495)2.48873342
55Abnormality of ocular smooth pursuit (HP:0000617)2.47903924
56Lower limb muscle weakness (HP:0007340)2.46847974
57Sleep apnea (HP:0010535)2.46434539
58Abnormality of the lower motor neuron (HP:0002366)2.46274666
59Anxiety (HP:0000739)2.44635169
60Action tremor (HP:0002345)2.44528070
61Akinesia (HP:0002304)2.42736762
62Generalized hypopigmentation of hair (HP:0011358)2.41021847
63Stereotypic behavior (HP:0000733)2.39460965
64Thickened helices (HP:0000391)2.38198464
65Urinary bladder sphincter dysfunction (HP:0002839)2.38131294
66Craniofacial dystonia (HP:0012179)2.37044218
67Abnormal hair whorl (HP:0010721)2.34744378
68Status epilepticus (HP:0002133)2.33421717
69Fetal akinesia sequence (HP:0001989)2.33071753
70Diplopia (HP:0000651)2.32913368
71Abnormality of binocular vision (HP:0011514)2.32913368
72Abnormality of salivation (HP:0100755)2.32517605
73Ventricular fibrillation (HP:0001663)2.31527873
74Hypsarrhythmia (HP:0002521)2.19963670
75Morphological abnormality of the pyramidal tract (HP:0002062)2.18958353
76Gait imbalance (HP:0002141)2.15470260
77Megalencephaly (HP:0001355)2.15161379
78Generalized myoclonic seizures (HP:0002123)2.12385235
79Spastic tetraparesis (HP:0001285)2.11990648
80Clonus (HP:0002169)2.10466608
81Hemiparesis (HP:0001269)2.10463260
82Neuronal loss in central nervous system (HP:0002529)2.07562536
83Postural instability (HP:0002172)2.05079646
84Hydroureter (HP:0000072)2.03740533
85Congenital primary aphakia (HP:0007707)2.03673143
86Gait ataxia (HP:0002066)2.02981169
87Medial flaring of the eyebrow (HP:0010747)2.02485921
88Bradykinesia (HP:0002067)2.02096459
89Sensory axonal neuropathy (HP:0003390)2.01186517
90Polyphagia (HP:0002591)2.00606701
91Bundle branch block (HP:0011710)2.00499486
92Focal motor seizures (HP:0011153)10.6051150
93Increased circulating renin level (HP:0000848)1.99901170
94Testicular atrophy (HP:0000029)1.98219110
95Termporal pattern (HP:0011008)1.96749522
96Insidious onset (HP:0003587)1.96749522
97Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.95333998
98Split foot (HP:0001839)1.92173561
99Nephrogenic diabetes insipidus (HP:0009806)1.91590786
100Peripheral hypomyelination (HP:0007182)1.91566017
101Widely spaced teeth (HP:0000687)1.90201621
102Dyskinesia (HP:0100660)1.90147223
103Supranuclear gaze palsy (HP:0000605)1.88551867
104Clumsiness (HP:0002312)1.88261530
105Prolonged QT interval (HP:0001657)1.86185009
106Pheochromocytoma (HP:0002666)1.85385079
107Aplasia of the phalanges of the hand (HP:0009802)1.84334953
108Aplasia involving bones of the extremities (HP:0009825)1.84334953
109Aplasia involving bones of the upper limbs (HP:0009823)1.84334953
110Progressive inability to walk (HP:0002505)1.82761805
111Rigidity (HP:0002063)1.82346140
112Dynein arm defect of respiratory motile cilia (HP:0012255)1.81711265
113Absent/shortened dynein arms (HP:0200106)1.81711265
114Focal dystonia (HP:0004373)1.80421486
115Hyperactive renin-angiotensin system (HP:0000841)1.78727495
116Gastroesophageal reflux (HP:0002020)1.77854488
117CNS hypomyelination (HP:0003429)1.77429878
118Apathy (HP:0000741)1.77417159
119Spastic tetraplegia (HP:0002510)1.77246344
120Urinary urgency (HP:0000012)1.76466995
121Exotropia (HP:0000577)1.74904903
122* Incomplete penetrance (HP:0003829)1.73912261
123Deeply set eye (HP:0000490)1.73251626
124Abnormal EKG (HP:0003115)1.72063878
125Choreoathetosis (HP:0001266)1.71869004
126Abnormality of saccadic eye movements (HP:0000570)1.71757950
127Bronchomalacia (HP:0002780)1.70748244
128Delusions (HP:0000746)1.70464859
129Narrow nasal bridge (HP:0000446)1.70334819
130Inappropriate behavior (HP:0000719)1.69456733
131Specific learning disability (HP:0001328)1.69178592
132Intellectual disability, severe (HP:0010864)1.68819564
133Psychosis (HP:0000709)1.68055097
134Hyperthyroidism (HP:0000836)1.68020530
135Autism (HP:0000717)1.67861680
136Neuroendocrine neoplasm (HP:0100634)1.65919002
137Memory impairment (HP:0002354)1.65112280
138Syncope (HP:0001279)1.64025047
139Cerebral inclusion bodies (HP:0100314)1.63647553
140Poor suck (HP:0002033)1.63560270
141Abnormality of the labia minora (HP:0012880)1.63338046
142Retinal dysplasia (HP:0007973)1.61880710

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK5.62854044
2EPHA45.32621026
3NTRK35.07441415
4DAPK13.04313025
5MAP2K73.00629487
6CDK192.98083178
7MAP3K42.85765109
8MAP3K122.68962423
9RIPK42.65964390
10DAPK22.57736805
11PLK22.40597800
12AKT32.35855693
13PRPF4B2.28924074
14LATS22.06173526
15TNIK1.91026106
16MAP3K91.87210159
17MINK11.85356826
18MAP2K41.80528895
19PINK11.78885887
20CCNB11.74642445
21OXSR11.60131305
22KSR11.45791233
23SIK31.44532162
24PTK2B1.40017377
25PRKCG1.38291552
26BMPR21.36314949
27MAPK131.32984273
28* CAMK2A1.24619719
29CAMKK21.19666353
30* CAMK2B1.19214464
31PAK31.18449395
32TYRO31.17256351
33NTRK21.17018139
34SGK21.15477016
35FES1.11935878
36NME11.11114045
37GRK51.10547480
38MARK11.09154696
39* CDK51.07506970
40PAK61.06099638
41CAMKK11.04610632
42PHKG10.98636350
43PHKG20.98636350
44BRAF0.97269681
45SGK4940.94253248
46SGK2230.94253248
47KSR20.90877745
48ARAF0.87104157
49SGK10.78667461
50CAMK10.77479949
51PNCK0.77163976
52FGR0.74001362
53FGFR20.73977845
54TSSK60.73766558
55SIK20.72371705
56FRK0.70998860
57ALK0.70512810
58PKN10.70345183
59SGK30.68625113
60NTRK10.68082498
61* CDK11A0.67672711
62RAF10.67038355
63PRKCE0.66850407
64MAPK100.66712441
65CAMK2D0.65572272
66RIPK10.63555253
67MARK20.61958698
68MAP3K130.61906528
69WNK10.61726537
70FER0.60784323
71PDK10.60507918
72STK380.59957687
73BCR0.58733245
74CDK30.54110468
75PRKCZ0.53356630
76PDK30.52584132
77PDK40.52584132
78STK110.51222649
79MAP3K20.50389668
80CAMK2G0.50046647
81DAPK30.49400887
82DYRK1A0.48343683
83STK390.47787229
84BRSK10.47599467
85PDPK10.46728226
86PRKD30.46515384
87MAPK70.46407020
88GRK70.45780604
89MAP3K60.43641230
90CAMK1G0.43116793
91* CDK180.42778195
92MAPK120.42577452
93CSNK1G20.41688883
94MAP3K70.41344001
95MKNK20.40666196
96CAMK40.40305905
97DMPK0.38089807
98MAP3K110.37466339
99TNK20.37235114
100UHMK10.36143752
101* FYN0.35557350
102NEK60.35376492
103* CDK140.35102370
104CSNK1E0.34730833
105RPS6KA30.34231655
106TAOK20.33226987
107PRKACA0.33103509
108* CDK150.32969853
109GRK60.32396772
110CSNK1D0.32261079
111CSNK1A10.31938873
112ERBB20.30694057
113* PRKCA0.29249159
114ADRBK10.28403398
115PRKCQ0.28367782
116RET0.27994899
117ROCK10.27879892
118PRKCB0.27290325
119PDK20.27274508
120MAP2K10.26795682
121MAP3K10.26587890
122WNK30.26573618
123INSRR0.26297278
124PRKG10.25686176
125ROCK20.24599741
126MYLK0.24463208
127PRKCH0.24259574

Predicted pathways (KEGG)

RankGene SetZ-score
1* Nicotine addiction_Homo sapiens_hsa050334.92230306
2Synaptic vesicle cycle_Homo sapiens_hsa047213.29851770
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047233.23873729
4* Long-term potentiation_Homo sapiens_hsa047203.17886210
5* Circadian entrainment_Homo sapiens_hsa047133.02617631
6* Amphetamine addiction_Homo sapiens_hsa050312.90625557
7Morphine addiction_Homo sapiens_hsa050322.81427432
8* Glutamatergic synapse_Homo sapiens_hsa047242.75520720
9GABAergic synapse_Homo sapiens_hsa047272.67406134
10Salivary secretion_Homo sapiens_hsa049702.47730444
11Olfactory transduction_Homo sapiens_hsa047402.46616954
12Collecting duct acid secretion_Homo sapiens_hsa049662.44773445
13Taste transduction_Homo sapiens_hsa047422.22279988
14* Dopaminergic synapse_Homo sapiens_hsa047282.16586683
15Insulin secretion_Homo sapiens_hsa049111.98317841
16Long-term depression_Homo sapiens_hsa047301.97367113
17Renin secretion_Homo sapiens_hsa049241.92988036
18Serotonergic synapse_Homo sapiens_hsa047261.90174437
19* Calcium signaling pathway_Homo sapiens_hsa040201.89988611
20Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.82538234
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.79901893
22Gastric acid secretion_Homo sapiens_hsa049711.76856921
23Oxytocin signaling pathway_Homo sapiens_hsa049211.75462082
24Cholinergic synapse_Homo sapiens_hsa047251.68131578
25Vibrio cholerae infection_Homo sapiens_hsa051101.50634212
26* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.46638677
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.40110791
28* cAMP signaling pathway_Homo sapiens_hsa040241.34707206
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.29984204
30GnRH signaling pathway_Homo sapiens_hsa049121.24985815
31* Cocaine addiction_Homo sapiens_hsa050301.21742037
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.20765079
33Phosphatidylinositol signaling system_Homo sapiens_hsa040701.20041403
34Gap junction_Homo sapiens_hsa045401.14808215
35Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.11443371
36Axon guidance_Homo sapiens_hsa043601.11318261
37Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.10130500
38cGMP-PKG signaling pathway_Homo sapiens_hsa040221.09494457
39Vitamin B6 metabolism_Homo sapiens_hsa007501.02776563
40Phototransduction_Homo sapiens_hsa047441.02487597
41Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.01655315
42* Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.01411640
43Vascular smooth muscle contraction_Homo sapiens_hsa042700.99903292
44Type II diabetes mellitus_Homo sapiens_hsa049300.92897990
45Glioma_Homo sapiens_hsa052140.92649473
46Melanogenesis_Homo sapiens_hsa049160.91743894
47Estrogen signaling pathway_Homo sapiens_hsa049150.91619253
48Pancreatic secretion_Homo sapiens_hsa049720.90131906
49ErbB signaling pathway_Homo sapiens_hsa040120.89782313
50Cardiac muscle contraction_Homo sapiens_hsa042600.86584297
51Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.86169127
52Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.85957119
53Oxidative phosphorylation_Homo sapiens_hsa001900.78120122
54African trypanosomiasis_Homo sapiens_hsa051430.76044295
55Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.72912098
56Alzheimers disease_Homo sapiens_hsa050100.72118634
57MAPK signaling pathway_Homo sapiens_hsa040100.71266346
58Circadian rhythm_Homo sapiens_hsa047100.67903191
59Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.65789102
60Oocyte meiosis_Homo sapiens_hsa041140.65199483
61Dilated cardiomyopathy_Homo sapiens_hsa054140.64506253
62Rheumatoid arthritis_Homo sapiens_hsa053230.63476119
63Thyroid hormone synthesis_Homo sapiens_hsa049180.63105350
64Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.60656674
65Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.58346849
66Choline metabolism in cancer_Homo sapiens_hsa052310.58263112
67Glucagon signaling pathway_Homo sapiens_hsa049220.57453757
68* Ras signaling pathway_Homo sapiens_hsa040140.54642536
69Phospholipase D signaling pathway_Homo sapiens_hsa040720.49750170
70Inositol phosphate metabolism_Homo sapiens_hsa005620.49330277
71VEGF signaling pathway_Homo sapiens_hsa043700.48021578
72Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.46331240
73Mineral absorption_Homo sapiens_hsa049780.45359671
74* Rap1 signaling pathway_Homo sapiens_hsa040150.44972662
75Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.44600375
76Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.43035715
77Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.42309026
78Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.40056761
79Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.39979388
80Histidine metabolism_Homo sapiens_hsa003400.39776821
81Type I diabetes mellitus_Homo sapiens_hsa049400.39267855
82Fatty acid biosynthesis_Homo sapiens_hsa000610.39230004
83Wnt signaling pathway_Homo sapiens_hsa043100.38167473
84Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.38002127
85Dorso-ventral axis formation_Homo sapiens_hsa043200.34671192
86Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.32518085
87Hippo signaling pathway_Homo sapiens_hsa043900.31937521
88Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.31532158
89Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.31262032
90beta-Alanine metabolism_Homo sapiens_hsa004100.30995107
91Phagosome_Homo sapiens_hsa041450.30707406
92Nitrogen metabolism_Homo sapiens_hsa009100.30105087
93Neurotrophin signaling pathway_Homo sapiens_hsa047220.29349783
94Tight junction_Homo sapiens_hsa045300.29019590
95Huntingtons disease_Homo sapiens_hsa050160.28964769
96SNARE interactions in vesicular transport_Homo sapiens_hsa041300.28564357
97Arginine and proline metabolism_Homo sapiens_hsa003300.26251574
98Endocytosis_Homo sapiens_hsa041440.25652645
99Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.24167588
100Sphingolipid signaling pathway_Homo sapiens_hsa040710.23285337
101* Alcoholism_Homo sapiens_hsa050340.22791848
102Ovarian steroidogenesis_Homo sapiens_hsa049130.21468580
103Regulation of actin cytoskeleton_Homo sapiens_hsa048100.19949703
104Thyroid hormone signaling pathway_Homo sapiens_hsa049190.19013308
105Protein digestion and absorption_Homo sapiens_hsa049740.18639584
106Parkinsons disease_Homo sapiens_hsa050120.18606629
107Carbohydrate digestion and absorption_Homo sapiens_hsa049730.18423983
108Butanoate metabolism_Homo sapiens_hsa006500.17778850
109Non-small cell lung cancer_Homo sapiens_hsa052230.17307577
110mTOR signaling pathway_Homo sapiens_hsa041500.13910185
111Melanoma_Homo sapiens_hsa052180.13700442
112Bile secretion_Homo sapiens_hsa049760.13039413
113Chemokine signaling pathway_Homo sapiens_hsa040620.12994385
114Longevity regulating pathway - mammal_Homo sapiens_hsa042110.12071715
115Prion diseases_Homo sapiens_hsa050200.11654921

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