NRG3

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 is a member of the neuregulin gene family. This gene family encodes ligands for the transmembrane tyrosine kinase receptors ERBB3 and ERBB4 - members of the epidermal growth factor receptor family. Ligand binding activates intracellular signaling cascades and the induction of cellular responses including proliferation, migration, differentiation, and survival or apoptosis. This gene encodes neuregulin 3 (NRG3). NRG3 has been shown to activate the tyrosine phosphorylation of its cognate receptor, ERBB4, and is thought to influence neuroblast proliferation, migration and differentiation by signalling through ERBB4. NRG3 also promotes mammary differentiation during embryogenesis. Linkage studies have implicated this gene as a susceptibility locus for schizophrenia and schizoaffective disorder. Alternative splicing results in multiple transcript variants encoding distinct isoforms. Additional transcript variants have been described but their biological validity has not been verified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1vocalization behavior (GO:0071625)5.76513431
2neuron cell-cell adhesion (GO:0007158)5.67303160
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.60827057
4synaptic vesicle exocytosis (GO:0016079)5.51854106
5regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.50724726
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.45987231
7protein localization to synapse (GO:0035418)5.16741842
8ionotropic glutamate receptor signaling pathway (GO:0035235)5.03530808
9regulation of glutamate receptor signaling pathway (GO:1900449)5.00343793
10glutamate secretion (GO:0014047)4.83761175
11glutamate receptor signaling pathway (GO:0007215)4.75003284
12regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.74231181
13locomotory exploration behavior (GO:0035641)4.70845045
14regulation of synaptic vesicle exocytosis (GO:2000300)4.63743163
15synaptic vesicle docking involved in exocytosis (GO:0016081)4.62239444
16positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.54268097
17pyrimidine nucleobase catabolic process (GO:0006208)4.51014831
18presynaptic membrane assembly (GO:0097105)4.46101381
19synaptic transmission, glutamatergic (GO:0035249)4.42626049
20neurotransmitter-gated ion channel clustering (GO:0072578)4.37669988
21synaptic vesicle maturation (GO:0016188)4.30001899
22exploration behavior (GO:0035640)4.26453757
23neuron-neuron synaptic transmission (GO:0007270)4.24133640
24neuronal action potential propagation (GO:0019227)4.23427904
25postsynaptic membrane organization (GO:0001941)4.20596236
26regulation of synaptic vesicle transport (GO:1902803)4.19068804
27axon ensheathment in central nervous system (GO:0032291)4.16921278
28central nervous system myelination (GO:0022010)4.16921278
29neuron recognition (GO:0008038)4.15798380
30gamma-aminobutyric acid signaling pathway (GO:0007214)4.14737811
31presynaptic membrane organization (GO:0097090)4.05786249
32regulation of long-term neuronal synaptic plasticity (GO:0048169)4.05050788
33response to histamine (GO:0034776)4.03703125
34negative regulation of synaptic transmission, GABAergic (GO:0032229)4.02087698
35neurotransmitter secretion (GO:0007269)3.99514061
36regulation of excitatory postsynaptic membrane potential (GO:0060079)3.96812840
37regulation of neuronal synaptic plasticity (GO:0048168)3.88780006
38proline transport (GO:0015824)3.88026947
39G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.87451492
40layer formation in cerebral cortex (GO:0021819)3.87445987
41axonal fasciculation (GO:0007413)3.82274832
42regulation of postsynaptic membrane potential (GO:0060078)3.80802720
43regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.80389667
44dendritic spine morphogenesis (GO:0060997)3.80204825
45positive regulation of synapse maturation (GO:0090129)3.74808037
46positive regulation of membrane potential (GO:0045838)3.73226985
47nucleobase catabolic process (GO:0046113)3.69510579
48membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.62470887
49cellular potassium ion homeostasis (GO:0030007)3.62383401
50synaptic vesicle endocytosis (GO:0048488)3.54747092
51long-term synaptic potentiation (GO:0060291)3.50906910
52long-term memory (GO:0007616)3.49768726
53startle response (GO:0001964)3.49675529
54regulation of synaptic transmission, glutamatergic (GO:0051966)3.48781812
55positive regulation of synapse assembly (GO:0051965)3.43222836
56regulation of synaptic plasticity (GO:0048167)3.42736125
57neurotransmitter transport (GO:0006836)3.38559551
58positive regulation of neurotransmitter secretion (GO:0001956)3.38414744
59establishment of mitochondrion localization (GO:0051654)3.37290659
60regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.36791766
61transmission of nerve impulse (GO:0019226)3.35727988
62positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.35641200
63behavioral defense response (GO:0002209)3.35240971
64behavioral fear response (GO:0001662)3.35240971
65regulation of dendritic spine morphogenesis (GO:0061001)3.34654345
66regulation of synapse structural plasticity (GO:0051823)3.34435803
67regulation of neurotransmitter secretion (GO:0046928)3.34056037
68behavioral response to nicotine (GO:0035095)3.30099349
69membrane depolarization (GO:0051899)3.27341847
70neuronal ion channel clustering (GO:0045161)3.25778947
71regulation of synapse maturation (GO:0090128)3.25537653
72cerebellar granule cell differentiation (GO:0021707)3.24951371
73cerebellar Purkinje cell differentiation (GO:0021702)3.24855771
74gamma-aminobutyric acid transport (GO:0015812)3.23380849
75synapse assembly (GO:0007416)3.23226090
76regulation of vesicle fusion (GO:0031338)3.23152696
77negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.22478359
78mechanosensory behavior (GO:0007638)3.21594178
79regulation of glutamate secretion (GO:0014048)3.21160802
80fear response (GO:0042596)3.21132443
81learning (GO:0007612)3.20565684
82L-amino acid import (GO:0043092)3.18868656
83innervation (GO:0060384)3.18170999
84auditory behavior (GO:0031223)3.17855841
85regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.16228451
86positive regulation of dendritic spine morphogenesis (GO:0061003)3.14930878
87membrane depolarization during action potential (GO:0086010)3.12853643
88neuromuscular synaptic transmission (GO:0007274)3.12723537
89cell migration in hindbrain (GO:0021535)3.10596022
90positive regulation of neurotransmitter transport (GO:0051590)3.09121982
91central nervous system projection neuron axonogenesis (GO:0021952)3.08027195
92regulation of synapse assembly (GO:0051963)3.07886262
93positive regulation of synaptic transmission, GABAergic (GO:0032230)3.06331310
94sodium ion export (GO:0071436)3.05465135
95adult walking behavior (GO:0007628)3.05393408
96regulation of neurotransmitter levels (GO:0001505)3.04947133
97regulation of dendritic spine development (GO:0060998)3.04626464
98cochlea development (GO:0090102)3.04529056
99membrane hyperpolarization (GO:0060081)3.04025417
100positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.02639585
101regulation of neurotransmitter transport (GO:0051588)3.02412090
102synaptic transmission (GO:0007268)3.01965221
103dendrite morphogenesis (GO:0048813)3.01291426
104G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.01115877
105social behavior (GO:0035176)2.98895186
106intraspecies interaction between organisms (GO:0051703)2.98895186
107positive regulation of dendritic spine development (GO:0060999)2.97879818
108response to auditory stimulus (GO:0010996)2.97230574
109negative regulation of dendrite development (GO:2000171)2.97215378
110righting reflex (GO:0060013)2.96490028
111regulation of respiratory system process (GO:0044065)2.96478238
112regulation of synaptic transmission (GO:0050804)2.95450258
113potassium ion homeostasis (GO:0055075)2.93636571
114neuronal action potential (GO:0019228)2.91655160
115positive regulation of synaptic transmission (GO:0050806)2.91404347
116establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.88328708
117mitochondrion transport along microtubule (GO:0047497)2.88328708
118regulation of voltage-gated calcium channel activity (GO:1901385)2.87357996
119serotonin metabolic process (GO:0042428)2.87135953
120synapse organization (GO:0050808)2.85222120
121positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.84313992
122neurotransmitter uptake (GO:0001504)2.81309766
123neuromuscular process controlling balance (GO:0050885)2.80145651
124behavioral response to cocaine (GO:0048148)2.79875028
125neuromuscular process (GO:0050905)2.77875379

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.04951815
2GBX2_23144817_ChIP-Seq_PC3_Human4.44348191
3* JARID2_20064375_ChIP-Seq_MESCs_Mouse3.08686309
4* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.08013675
5SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.94379129
6EZH2_27304074_Chip-Seq_ESCs_Mouse2.60487323
7* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.60390326
8* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.56710936
9* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.56710936
10SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.53027637
11* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.52431775
12* REST_21632747_ChIP-Seq_MESCs_Mouse2.51367348
13TAF15_26573619_Chip-Seq_HEK293_Human2.46881799
14EED_16625203_ChIP-ChIP_MESCs_Mouse2.41888376
15GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.38428317
16* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.37206089
17* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.28383587
18* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.27150405
19* CTBP2_25329375_ChIP-Seq_LNCAP_Human2.22996428
20* ZFP57_27257070_Chip-Seq_ESCs_Mouse2.15567785
21RNF2_27304074_Chip-Seq_ESCs_Mouse2.08883711
22DROSHA_22980978_ChIP-Seq_HELA_Human2.08775860
23SUZ12_27294783_Chip-Seq_ESCs_Mouse2.08154220
24EZH2_27294783_Chip-Seq_ESCs_Mouse2.08142993
25HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.07989538
26* CTBP1_25329375_ChIP-Seq_LNCAP_Human2.07121744
27NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.04006956
28* REST_18959480_ChIP-ChIP_MESCs_Mouse1.92506909
29* RARB_27405468_Chip-Seq_BRAIN_Mouse1.90978298
30ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.90411434
31* SMAD4_21799915_ChIP-Seq_A2780_Human1.87660568
32P300_19829295_ChIP-Seq_ESCs_Human1.85477881
33* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.82190673
34PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.80496451
35CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.79786006
36* AR_21572438_ChIP-Seq_LNCaP_Human1.79537293
37TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.76225475
38BMI1_23680149_ChIP-Seq_NPCS_Mouse1.75632708
39CBX2_27304074_Chip-Seq_ESCs_Mouse1.67767533
40POU3F2_20337985_ChIP-ChIP_501MEL_Human1.67552306
41IKZF1_21737484_ChIP-ChIP_HCT116_Human1.67424053
42* GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.62755234
43IGF1R_20145208_ChIP-Seq_DFB_Human1.55310934
44FUS_26573619_Chip-Seq_HEK293_Human1.54178747
45PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.53432501
46* SMAD3_21741376_ChIP-Seq_EPCs_Human1.50700061
47RNF2_27304074_Chip-Seq_NSC_Mouse1.48013179
48TOP2B_26459242_ChIP-Seq_MCF-7_Human1.45619368
49RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.44814356
50* PIAS1_25552417_ChIP-Seq_VCAP_Human1.44781801
51* AR_25329375_ChIP-Seq_VCAP_Human1.44343869
52SMAD_19615063_ChIP-ChIP_OVARY_Human1.44045841
53ZNF274_21170338_ChIP-Seq_K562_Hela1.43579418
54OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.43020761
55RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.42574308
56* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41998956
57GATA1_26923725_Chip-Seq_HPCs_Mouse1.35968003
58SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.34408303
59* SOX2_21211035_ChIP-Seq_LN229_Gbm1.33058100
60VDR_22108803_ChIP-Seq_LS180_Human1.32547248
61NR3C1_23031785_ChIP-Seq_PC12_Mouse1.30140884
62* STAT3_23295773_ChIP-Seq_U87_Human1.29221243
63RBPJ_22232070_ChIP-Seq_NCS_Mouse1.27113311
64KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.26681449
65TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.23698546
66MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.23522371
67CDX2_19796622_ChIP-Seq_MESCs_Mouse1.23035641
68CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.21446114
69UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.21182522
70CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.20571679
71ER_23166858_ChIP-Seq_MCF-7_Human1.19755416
72* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.19592185
73* TCF4_23295773_ChIP-Seq_U87_Human1.19553312
74* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.18857813
75ARNT_22903824_ChIP-Seq_MCF-7_Human1.18760520
76TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.18662967
77* RING1B_27294783_Chip-Seq_ESCs_Mouse1.17667764
78LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16299130
79NANOG_18555785_Chip-Seq_ESCs_Mouse1.16000815
80POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.15116456
81TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.15116456
82JUN_21703547_ChIP-Seq_K562_Human1.13556861
83PRDM14_20953172_ChIP-Seq_ESCs_Human1.13014549
84P53_22127205_ChIP-Seq_FIBROBLAST_Human1.12877266
85RUNX2_22187159_ChIP-Seq_PCA_Human1.12276529
86BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.11067341
87EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.11043101
88* AR_19668381_ChIP-Seq_PC3_Human1.10257669
89YAP1_20516196_ChIP-Seq_MESCs_Mouse1.07761350
90TP53_18474530_ChIP-ChIP_U2OS_Human1.07574051
91MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.06903661
92AHR_22903824_ChIP-Seq_MCF-7_Human1.05599402
93NR3C1_21868756_ChIP-Seq_MCF10A_Human1.05125352
94TP53_16413492_ChIP-PET_HCT116_Human1.04332612
95ZNF217_24962896_ChIP-Seq_MCF-7_Human1.03783700
96SOX9_26525672_Chip-Seq_HEART_Mouse1.03278957
97* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.01958056
98E2F1_18555785_Chip-Seq_ESCs_Mouse1.01112158
99ERG_21242973_ChIP-ChIP_JURKAT_Human1.00966197
100EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.00634726
101MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00195644
102KDM2B_26808549_Chip-Seq_REH_Human1.00024456
103FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse0.99927095
104SMAD3_21741376_ChIP-Seq_ESCs_Human0.99695451
105STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.99365571
106EWS_26573619_Chip-Seq_HEK293_Human0.98459012
107* RING1B_27294783_Chip-Seq_NPCs_Mouse0.98346856
108IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.97822325
109CBP_20019798_ChIP-Seq_JUKART_Human0.97822325
110VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.97782534
111* RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.97512149
112* TAL1_26923725_Chip-Seq_HPCs_Mouse0.96346276
113TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.96158588
114CEBPB_26923725_Chip-Seq_MESODERM_Mouse0.95880829
115POU5F1_16153702_ChIP-ChIP_HESCs_Human0.95519082
116CMYC_18555785_Chip-Seq_ESCs_Mouse0.95448595
117P53_22387025_ChIP-Seq_ESCs_Mouse0.94653597
118* BCAT_22108803_ChIP-Seq_LS180_Human0.94061053
119TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.92469017

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.67185127
2MP0003880_abnormal_central_pattern5.33428718
3MP0003635_abnormal_synaptic_transmissio3.96861872
4MP0004270_analgesia3.51265178
5MP0009745_abnormal_behavioral_response3.44668921
6MP0001968_abnormal_touch/_nociception3.34756651
7MP0002063_abnormal_learning/memory/cond3.31649942
8MP0002064_seizures3.16261983
9MP0009046_muscle_twitch3.04510005
10MP0002572_abnormal_emotion/affect_behav2.99758491
11MP0002735_abnormal_chemical_nociception2.75312866
12MP0002734_abnormal_mechanical_nocicepti2.72882790
13MP0002736_abnormal_nociception_after2.72836473
14MP0001486_abnormal_startle_reflex2.69304041
15MP0002272_abnormal_nervous_system2.55048068
16MP0005423_abnormal_somatic_nervous2.51030781
17MP0001440_abnormal_grooming_behavior2.47952561
18MP0006276_abnormal_autonomic_nervous2.44424014
19MP0001501_abnormal_sleep_pattern2.34037926
20MP0002067_abnormal_sensory_capabilities2.14887820
21MP0002733_abnormal_thermal_nociception2.11081319
22MP0000778_abnormal_nervous_system2.06939939
23MP0001970_abnormal_pain_threshold2.05735937
24MP0002184_abnormal_innervation2.02634993
25MP0001984_abnormal_olfaction1.94984685
26MP0002822_catalepsy1.86510759
27MP0001529_abnormal_vocalization1.83925375
28MP0002557_abnormal_social/conspecific_i1.83727656
29MP0005386_behavior/neurological_phenoty1.81214450
30MP0004924_abnormal_behavior1.81214450
31MP0005645_abnormal_hypothalamus_physiol1.80089017
32MP0003136_yellow_coat_color1.78037177
33MP0005646_abnormal_pituitary_gland1.72550764
34MP0003879_abnormal_hair_cell1.70356071
35MP0008569_lethality_at_weaning1.66085592
36MP0001188_hyperpigmentation1.62168872
37MP0003122_maternal_imprinting1.61825832
38MP0003787_abnormal_imprinting1.58502496
39MP0004811_abnormal_neuron_physiology1.58373590
40MP0002653_abnormal_ependyma_morphology1.53491987
41MP0004142_abnormal_muscle_tone1.49086772
42MP0000955_abnormal_spinal_cord1.45956852
43MP0001905_abnormal_dopamine_level1.45594923
44MP0009780_abnormal_chondrocyte_physiolo1.43649997
45MP0002066_abnormal_motor_capabilities/c1.39359009
46MP0002882_abnormal_neuron_morphology1.37704715
47MP0002837_dystrophic_cardiac_calcinosis1.34773028
48MP0001502_abnormal_circadian_rhythm1.33139760
49MP0005187_abnormal_penis_morphology1.31786500
50MP0003329_amyloid_beta_deposits1.30576886
51MP0004858_abnormal_nervous_system1.28049134
52MP0004742_abnormal_vestibular_system1.24037047
53MP0010386_abnormal_urinary_bladder1.23298517
54MP0002876_abnormal_thyroid_physiology1.16360472
55MP0002909_abnormal_adrenal_gland1.14711332
56MP0003633_abnormal_nervous_system1.13536241
57MP0002152_abnormal_brain_morphology1.08367181
58MP0008872_abnormal_physiological_respon1.07527723
59MP0004885_abnormal_endolymph1.07351206
60MP0005551_abnormal_eye_electrophysiolog1.05797897
61MP0005248_abnormal_Harderian_gland1.04931691
62MP0008877_abnormal_DNA_methylation1.04193850
63MP0001963_abnormal_hearing_physiology1.01146128
64MP0004133_heterotaxia0.99089367
65MP0000569_abnormal_digit_pigmentation0.98740964
66MP0003631_nervous_system_phenotype0.98352898
67MP0006292_abnormal_olfactory_placode0.96150707
68MP0002069_abnormal_eating/drinking_beha0.94524714
69MP0005499_abnormal_olfactory_system0.91823914
70MP0005394_taste/olfaction_phenotype0.91823914
71MP0005409_darkened_coat_color0.91706248
72MP0000566_synostosis0.91114629
73MP0002229_neurodegeneration0.87315054
74MP0004145_abnormal_muscle_electrophysio0.87094579
75MP0002928_abnormal_bile_duct0.87036969
76MP0000631_abnormal_neuroendocrine_gland0.86030366
77MP0004085_abnormal_heartbeat0.85365948
78MP0000751_myopathy0.85241957
79MP0002752_abnormal_somatic_nervous0.84043675
80MP0005253_abnormal_eye_physiology0.83919242
81MP0001346_abnormal_lacrimal_gland0.83438810
82MP0002638_abnormal_pupillary_reflex0.82169931
83MP0003283_abnormal_digestive_organ0.81862880
84MP0003690_abnormal_glial_cell0.81028415
85MP0001986_abnormal_taste_sensitivity0.81010661
86MP0003890_abnormal_embryonic-extraembry0.79630539
87MP0001299_abnormal_eye_distance/0.79474281
88MP0008874_decreased_physiological_sensi0.78481707
89MP0005535_abnormal_body_temperature0.77816392
90MP0001485_abnormal_pinna_reflex0.76521998
91MP0002938_white_spotting0.75146640
92MP0003121_genomic_imprinting0.74664521
93MP0001664_abnormal_digestion0.74395868
94MP0003123_paternal_imprinting0.74080966
95MP0002102_abnormal_ear_morphology0.73820621
96MP0004484_altered_response_of0.72776452
97MP0009379_abnormal_foot_pigmentation0.72113893
98MP0004215_abnormal_myocardial_fiber0.71301603
99MP0005171_absent_coat_pigmentation0.71200301
100MP0000026_abnormal_inner_ear0.70528720
101MP0005195_abnormal_posterior_eye0.67898246
102MP0001177_atelectasis0.67702863
103MP0008961_abnormal_basal_metabolism0.64961061
104MP0003632_abnormal_nervous_system0.63237548
105MP0003634_abnormal_glial_cell0.62842443
106MP0000372_irregular_coat_pigmentation0.61137230
107MP0002751_abnormal_autonomic_nervous0.56502888
108MP0003137_abnormal_impulse_conducting0.56431179
109MP0003861_abnormal_nervous_system0.56160640
110MP0001943_abnormal_respiration0.55060884
111MP0002090_abnormal_vision0.54084360
112MP0010770_preweaning_lethality0.53461961
113MP0002082_postnatal_lethality0.53461961
114MP0000015_abnormal_ear_pigmentation0.53173773
115MP0010769_abnormal_survival0.51741404
116MP0010768_mortality/aging0.48985379
117MP0000920_abnormal_myelination0.46854311
118MP0003956_abnormal_body_size0.46350811
119MP0000604_amyloidosis0.45922652
120MP0006072_abnormal_retinal_apoptosis0.45019138

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.39020013
2Focal seizures (HP:0007359)6.04845343
3Epileptic encephalopathy (HP:0200134)5.54391976
4Febrile seizures (HP:0002373)5.40284992
5Myokymia (HP:0002411)5.38904054
6Atonic seizures (HP:0010819)5.34214877
7Visual hallucinations (HP:0002367)4.69227534
8Hyperventilation (HP:0002883)4.68030869
9Absence seizures (HP:0002121)4.57118038
10Progressive cerebellar ataxia (HP:0002073)4.46612153
11Dialeptic seizures (HP:0011146)4.37686570
12Broad-based gait (HP:0002136)4.19593457
13Generalized tonic-clonic seizures (HP:0002069)3.99832681
14Gaze-evoked nystagmus (HP:0000640)3.27587121
15Excessive salivation (HP:0003781)3.24425321
16Drooling (HP:0002307)3.24425321
17Amblyopia (HP:0000646)3.23957179
18Poor eye contact (HP:0000817)3.11514151
19Polyphagia (HP:0002591)3.08315986
20Protruding tongue (HP:0010808)2.93816808
21Abnormal eating behavior (HP:0100738)2.91266438
22Supranuclear gaze palsy (HP:0000605)2.90000433
23Gait imbalance (HP:0002141)2.88969937
24Progressive inability to walk (HP:0002505)2.87718012
25Truncal ataxia (HP:0002078)2.84571477
26Absent speech (HP:0001344)2.83993660
27Action tremor (HP:0002345)2.81392628
28Impaired vibration sensation in the lower limbs (HP:0002166)2.80005564
29Inability to walk (HP:0002540)2.79737154
30Epileptiform EEG discharges (HP:0011182)2.77123089
31Abnormality of binocular vision (HP:0011514)2.76914320
32Diplopia (HP:0000651)2.76914320
33Mutism (HP:0002300)2.74139454
34Limb dystonia (HP:0002451)2.72756060
35Degeneration of the lateral corticospinal tracts (HP:0002314)2.72124797
36Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.72124797
37Impaired social interactions (HP:0000735)2.67946690
38Abnormal social behavior (HP:0012433)2.67946690
39Dysdiadochokinesis (HP:0002075)2.67850751
40Fetal akinesia sequence (HP:0001989)2.62731879
41Papilledema (HP:0001085)2.61749484
42Urinary bladder sphincter dysfunction (HP:0002839)2.59712846
43Anxiety (HP:0000739)2.59587756
44Dysmetria (HP:0001310)2.58660004
45Genetic anticipation (HP:0003743)2.54533375
46Termporal pattern (HP:0011008)2.53520124
47Insidious onset (HP:0003587)2.53520124
48EEG with generalized epileptiform discharges (HP:0011198)2.52296827
49Ulnar claw (HP:0001178)2.52210061
50Depression (HP:0000716)2.49108694
51Dynein arm defect of respiratory motile cilia (HP:0012255)2.47746078
52Absent/shortened dynein arms (HP:0200106)2.47746078
53Hemiparesis (HP:0001269)2.47401148
54Ankle clonus (HP:0011448)2.42178586
55Peripheral hypomyelination (HP:0007182)2.41396684
56Inappropriate behavior (HP:0000719)2.41362975
57Blue irides (HP:0000635)2.41335695
58Abnormality of the corticospinal tract (HP:0002492)2.40017855
59Hemiplegia (HP:0002301)2.38514741
60Scanning speech (HP:0002168)2.33700212
61Abnormal hair whorl (HP:0010721)2.33386140
62Congenital primary aphakia (HP:0007707)2.31813362
63Hypsarrhythmia (HP:0002521)2.31025585
64Stereotypic behavior (HP:0000733)2.29802894
65Medial flaring of the eyebrow (HP:0010747)2.26245725
66Abnormality of salivation (HP:0100755)2.25600663
67Impaired smooth pursuit (HP:0007772)2.25519052
68Fair hair (HP:0002286)2.22477274
69Split foot (HP:0001839)2.20076180
70Cerebral inclusion bodies (HP:0100314)2.19896654
71Megalencephaly (HP:0001355)2.19896313
72Postural instability (HP:0002172)2.19586138
73Urinary urgency (HP:0000012)2.18723371
74Specific learning disability (HP:0001328)2.18170239
75Generalized hypopigmentation of hair (HP:0011358)2.16734554
76Nephrogenic diabetes insipidus (HP:0009806)2.15401737
77Bradykinesia (HP:0002067)2.14370038
78Exotropia (HP:0000577)2.14353159
79Amyotrophic lateral sclerosis (HP:0007354)2.12513450
80Abnormality of the labia minora (HP:0012880)2.11977541
81Spastic tetraplegia (HP:0002510)2.11108429
82Spastic gait (HP:0002064)2.10037208
83Neurofibrillary tangles (HP:0002185)2.09479448
84Generalized myoclonic seizures (HP:0002123)2.08412850
85Agitation (HP:0000713)2.04351323
86Torticollis (HP:0000473)2.02045364
87Abnormal ciliary motility (HP:0012262)1.99791904
88Morphological abnormality of the inner ear (HP:0011390)1.99146049
89Abnormality of ocular smooth pursuit (HP:0000617)1.98720469
90Morphological abnormality of the pyramidal tract (HP:0002062)1.97912317
91Lower limb muscle weakness (HP:0007340)1.96776952
92Failure to thrive in infancy (HP:0001531)1.96530402
93Widely spaced teeth (HP:0000687)1.96416491
94Akinesia (HP:0002304)1.96189351
95Status epilepticus (HP:0002133)1.95936101
96Pheochromocytoma (HP:0002666)1.95903045
97Esotropia (HP:0000565)1.95582779
98Incomplete penetrance (HP:0003829)1.94322691
99Retinal dysplasia (HP:0007973)1.93948726
100Focal dystonia (HP:0004373)1.93085449
101Sleep apnea (HP:0010535)1.92058446
102Abnormality of the lower motor neuron (HP:0002366)1.90038809
103Impaired vibratory sensation (HP:0002495)1.89869517
104True hermaphroditism (HP:0010459)1.88660791
105Hyperthyroidism (HP:0000836)1.88345142
106Lissencephaly (HP:0001339)1.88128367
107Genital tract atresia (HP:0001827)1.87323143
108Optic nerve hypoplasia (HP:0000609)1.86931007
109Gait ataxia (HP:0002066)1.85700530
110Vaginal atresia (HP:0000148)1.83832230
111Nephronophthisis (HP:0000090)1.81720087
112Dysmetric saccades (HP:0000641)1.81573509
113Neuroendocrine neoplasm (HP:0100634)1.81046354
114Cutaneous finger syndactyly (HP:0010554)1.80480410
115Hypoplasia of the brainstem (HP:0002365)1.78696053
116Aplasia/Hypoplasia of the brainstem (HP:0007362)1.78696053
117Hypoventilation (HP:0002791)1.78444242
118Abnormal respiratory epithelium morphology (HP:0012253)1.78342077
119Abnormal respiratory motile cilium morphology (HP:0005938)1.78342077
120Pancreatic fibrosis (HP:0100732)1.71679285
121Intention tremor (HP:0002080)1.69677116
122Cerebral hypomyelination (HP:0006808)1.64607396
123Heterochromia iridis (HP:0001100)1.63872368
124Pachygyria (HP:0001302)1.62932112
125Abnormality of the renal medulla (HP:0100957)1.61748988
126Paraplegia (HP:0010550)1.60228423
127Abnormality of midbrain morphology (HP:0002418)1.59590494
128Molar tooth sign on MRI (HP:0002419)1.59590494
129Septo-optic dysplasia (HP:0100842)1.59337226
130Chronic hepatic failure (HP:0100626)1.58073944
131Hypoplasia of the corpus callosum (HP:0002079)1.57816297

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.42194745
2CASK3.87719322
3MARK13.83166098
4EPHA43.53383490
5MAP3K43.52099618
6MAP2K73.32306237
7MAP3K92.92484584
8MAP3K122.60084187
9MINK12.48084508
10RIPK42.14747810
11MAP2K42.13287151
12TNIK2.12376225
13MAPK132.09886008
14DAPK22.09832843
15PLK22.03061923
16NTRK21.97713112
17SIK21.90045883
18PAK61.86816725
19PINK11.80759897
20MAPK151.74532021
21DAPK11.72298656
22PNCK1.60512068
23SIK31.55066819
24KSR11.54681143
25CDK191.52999007
26GRK51.44460015
27CDK51.39031567
28PRPF4B1.32867415
29PRKCG1.28249016
30CAMK2A1.20375107
31TSSK61.17705583
32NTRK11.17238720
33TRIM281.14150117
34AKT31.13159718
35BMPR21.12875396
36CCNB11.12112258
37CAMKK11.10558747
38UHMK11.06928745
39FES1.06457022
40LATS21.02779125
41KSR21.02055696
42NME11.01721955
43PHKG20.95368926
44PHKG10.95368926
45CAMK2B0.94954287
46CAMKK20.94846284
47WNK30.94012227
48OXSR10.93960506
49SGK20.93112344
50PTK2B0.89104656
51SGK4940.88194542
52SGK2230.88194542
53CSNK1G30.83499574
54MAP3K60.81745832
55DYRK1A0.81446665
56CDK180.77676006
57FGFR20.77272297
58CSNK1A1L0.76640893
59CAMK10.76141494
60FRK0.73922057
61ARAF0.73773420
62CSNK1G10.73321807
63CSNK1G20.73070854
64PRKCE0.72055745
65BMPR1B0.71623390
66CDK150.71258951
67PRKD30.70000871
68CDK140.69561161
69EPHB20.69302348
70STK110.68431285
71SGK10.67704259
72CAMK1D0.66399556
73FGR0.66089727
74GRK70.64960416
75ADRBK20.64011204
76MKNK20.63333101
77PAK30.63038419
78STK380.62348864
79BCR0.61168201
80CDK11A0.60485877
81MARK20.60218520
82TIE10.57305290
83DYRK20.55983316
84INSRR0.55530398
85MAP3K20.53732240
86MAP3K130.53205628
87MAPK100.52959588
88SGK30.51420004
89TYRO30.50815103
90CAMK1G0.50550425
91RET0.49887733
92MAPK120.49468875
93ADRBK10.49426690
94WEE10.47451483
95ERBB20.47207741
96CAMK2D0.47040968
97NEK60.46750077
98PRKCZ0.45973363
99ERBB30.45043117
100RAF10.44797149
101MAP2K60.42415497
102PKN10.40939083
103CAMK2G0.40503556
104CDK30.40181878
105FYN0.38340519
106CSNK1E0.37635419
107RPS6KA30.37497152
108ROCK20.37012624
109WNK40.36794910
110PRKG10.36573408
111TNK20.36539300
112CSNK1D0.34586087
113PRKACA0.34419638
114PRKCB0.33592698
115MAP2K10.33386592
116CAMK40.32674504
117FER0.32356356
118CSNK1A10.31529855
119PRKCH0.31479618
120BRAF0.31128159
121PRKACB0.30465912
122PDK10.29650413
123STK38L0.29301971
124MUSK0.29217865
125PRKCA0.27659928
126ROCK10.27289168

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.68494285
2Synaptic vesicle cycle_Homo sapiens_hsa047213.45199190
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047233.07378547
4Circadian entrainment_Homo sapiens_hsa047132.71838895
5Long-term potentiation_Homo sapiens_hsa047202.71128121
6GABAergic synapse_Homo sapiens_hsa047272.70315694
7Glutamatergic synapse_Homo sapiens_hsa047242.69691106
8Morphine addiction_Homo sapiens_hsa050322.67952766
9Olfactory transduction_Homo sapiens_hsa047402.56417251
10Amphetamine addiction_Homo sapiens_hsa050312.45324550
11Collecting duct acid secretion_Homo sapiens_hsa049662.19252857
12Dopaminergic synapse_Homo sapiens_hsa047282.17761691
13Taste transduction_Homo sapiens_hsa047422.17017168
14Salivary secretion_Homo sapiens_hsa049702.12629295
15Serotonergic synapse_Homo sapiens_hsa047262.07638436
16Insulin secretion_Homo sapiens_hsa049111.90628181
17Cholinergic synapse_Homo sapiens_hsa047251.81636329
18Renin secretion_Homo sapiens_hsa049241.77852169
19Calcium signaling pathway_Homo sapiens_hsa040201.76759609
20Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.76402626
21Long-term depression_Homo sapiens_hsa047301.76087413
22Gastric acid secretion_Homo sapiens_hsa049711.68521871
23Aldosterone synthesis and secretion_Homo sapiens_hsa049251.67791621
24Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.62236455
25Oxytocin signaling pathway_Homo sapiens_hsa049211.60368762
26Cocaine addiction_Homo sapiens_hsa050301.52562897
27Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.43812568
28Axon guidance_Homo sapiens_hsa043601.39026253
29Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.34957009
30GnRH signaling pathway_Homo sapiens_hsa049121.32478819
31Gap junction_Homo sapiens_hsa045401.24096222
32Cardiac muscle contraction_Homo sapiens_hsa042601.23534467
33Vibrio cholerae infection_Homo sapiens_hsa051101.22456037
34Oxidative phosphorylation_Homo sapiens_hsa001901.22288491
35cAMP signaling pathway_Homo sapiens_hsa040241.19341982
36Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.17345534
37Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.15760680
38Phototransduction_Homo sapiens_hsa047441.11829606
39Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.09016660
40Alzheimers disease_Homo sapiens_hsa050101.07522216
41Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.02641367
42Type II diabetes mellitus_Homo sapiens_hsa049300.98411770
43Phosphatidylinositol signaling system_Homo sapiens_hsa040700.98085374
44cGMP-PKG signaling pathway_Homo sapiens_hsa040220.93962977
45Melanogenesis_Homo sapiens_hsa049160.93399342
46Estrogen signaling pathway_Homo sapiens_hsa049150.92894100
47Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.91465995
48* ErbB signaling pathway_Homo sapiens_hsa040120.91091646
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.88336298
50Glioma_Homo sapiens_hsa052140.84878926
51Hedgehog signaling pathway_Homo sapiens_hsa043400.82658805
52Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.80128156
53Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.77818662
54Bile secretion_Homo sapiens_hsa049760.77660573
55Parkinsons disease_Homo sapiens_hsa050120.76687335
56Pancreatic secretion_Homo sapiens_hsa049720.75786941
57Butanoate metabolism_Homo sapiens_hsa006500.75770182
58Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.71559553
59Oocyte meiosis_Homo sapiens_hsa041140.70947111
60MAPK signaling pathway_Homo sapiens_hsa040100.67641848
61Dorso-ventral axis formation_Homo sapiens_hsa043200.66974225
62Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.66257226
63Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.65794914
64Dilated cardiomyopathy_Homo sapiens_hsa054140.65026448
65Hippo signaling pathway_Homo sapiens_hsa043900.64884321
66Choline metabolism in cancer_Homo sapiens_hsa052310.64812432
67Huntingtons disease_Homo sapiens_hsa050160.62964032
68Ras signaling pathway_Homo sapiens_hsa040140.62942909
69Rheumatoid arthritis_Homo sapiens_hsa053230.61588578
70African trypanosomiasis_Homo sapiens_hsa051430.61515618
71Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.61451983
72Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.58619225
73Basal cell carcinoma_Homo sapiens_hsa052170.57847217
74Phospholipase D signaling pathway_Homo sapiens_hsa040720.57454441
75Nitrogen metabolism_Homo sapiens_hsa009100.55193100
76Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.54540130
77Thyroid hormone synthesis_Homo sapiens_hsa049180.54197787
78Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.53313745
79Wnt signaling pathway_Homo sapiens_hsa043100.51442257
80Circadian rhythm_Homo sapiens_hsa047100.50820469
81SNARE interactions in vesicular transport_Homo sapiens_hsa041300.50553717
82Rap1 signaling pathway_Homo sapiens_hsa040150.50387705
83VEGF signaling pathway_Homo sapiens_hsa043700.47227593
84Glucagon signaling pathway_Homo sapiens_hsa049220.46627902
85Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.43701140
86Sphingolipid signaling pathway_Homo sapiens_hsa040710.42183461
87Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.41575786
88Type I diabetes mellitus_Homo sapiens_hsa049400.40264258
89Alcoholism_Homo sapiens_hsa050340.39252264
90Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.38970367
91Vitamin B6 metabolism_Homo sapiens_hsa007500.38449866
92Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.38300120
93Phagosome_Homo sapiens_hsa041450.38135031
94Neurotrophin signaling pathway_Homo sapiens_hsa047220.37566048
95Ovarian steroidogenesis_Homo sapiens_hsa049130.36443042
96Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.35500299
97Histidine metabolism_Homo sapiens_hsa003400.35283847
98Inositol phosphate metabolism_Homo sapiens_hsa005620.35068727
99Tight junction_Homo sapiens_hsa045300.34904651
100Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.34710417
101Renal cell carcinoma_Homo sapiens_hsa052110.33859075
102Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.33789941
103Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.32797145
104Prion diseases_Homo sapiens_hsa050200.31697354
105Ether lipid metabolism_Homo sapiens_hsa005650.31344746
106Maturity onset diabetes of the young_Homo sapiens_hsa049500.30594273
107Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.27314172
108Carbohydrate digestion and absorption_Homo sapiens_hsa049730.26324411
109Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.26028524
110Colorectal cancer_Homo sapiens_hsa052100.25460341
111Thyroid hormone signaling pathway_Homo sapiens_hsa049190.24945583
112Propanoate metabolism_Homo sapiens_hsa006400.24803464
113Fatty acid biosynthesis_Homo sapiens_hsa000610.24105909
114Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.23183155
115Endocytosis_Homo sapiens_hsa041440.21756728
116Insulin signaling pathway_Homo sapiens_hsa049100.20877689
117Endometrial cancer_Homo sapiens_hsa052130.20660220
118Melanoma_Homo sapiens_hsa052180.20454678

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