CHD5

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 chromodomain helicase DNA-binding protein family. Members of this family are characterized by a chromodomain, a helicase ATP-binding domain and an additional functional domain. This gene encodes a neuron-specific protein that may function in chromatin remodeling and gene transcription. This gene is a potential tumor suppressor gene that may play a role in the development of neuroblastoma. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.51306868
2synaptic vesicle maturation (GO:0016188)6.39022378
3locomotory exploration behavior (GO:0035641)5.95022863
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.85326050
5positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.74358980
6vocalization behavior (GO:0071625)5.71819107
7synaptic vesicle exocytosis (GO:0016079)5.43237994
8glutamate secretion (GO:0014047)5.35599193
9regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.28960379
10regulation of synaptic vesicle exocytosis (GO:2000300)5.14076366
11synaptic vesicle docking involved in exocytosis (GO:0016081)5.02246219
12regulation of glutamate receptor signaling pathway (GO:1900449)5.00649350
13protein localization to synapse (GO:0035418)4.92720781
14exploration behavior (GO:0035640)4.75958328
15layer formation in cerebral cortex (GO:0021819)4.72548777
16neuron cell-cell adhesion (GO:0007158)4.69570602
17ionotropic glutamate receptor signaling pathway (GO:0035235)4.66012194
18neurotransmitter secretion (GO:0007269)4.61706461
19L-amino acid import (GO:0043092)4.60691295
20regulation of synaptic vesicle transport (GO:1902803)4.56523971
21regulation of neuronal synaptic plasticity (GO:0048168)4.55074742
22regulation of long-term neuronal synaptic plasticity (GO:0048169)4.50191616
23dendritic spine morphogenesis (GO:0060997)4.43777255
24cerebellar granule cell differentiation (GO:0021707)4.40356427
25regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)4.32226041
26proline transport (GO:0015824)4.30590805
27neuronal action potential propagation (GO:0019227)4.22446433
28gamma-aminobutyric acid transport (GO:0015812)4.20595525
29regulation of synapse structural plasticity (GO:0051823)4.18751028
30amino acid import (GO:0043090)4.11526612
31regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.11165007
32synaptic transmission, glutamatergic (GO:0035249)4.06004573
33glutamate receptor signaling pathway (GO:0007215)3.99816356
34long-term memory (GO:0007616)3.89594320
35regulation of synapse maturation (GO:0090128)3.87482460
36regulation of voltage-gated calcium channel activity (GO:1901385)3.86894485
37neurotransmitter-gated ion channel clustering (GO:0072578)3.83463659
38positive regulation of membrane potential (GO:0045838)3.81697870
39positive regulation of dendritic spine morphogenesis (GO:0061003)3.80469807
40neurotransmitter transport (GO:0006836)3.79478196
41neuron-neuron synaptic transmission (GO:0007270)3.79448852
42central nervous system myelination (GO:0022010)3.78486106
43axon ensheathment in central nervous system (GO:0032291)3.78486106
44negative regulation of dendrite morphogenesis (GO:0050774)3.76886103
45activation of protein kinase A activity (GO:0034199)3.72935238
46potassium ion homeostasis (GO:0055075)3.71190810
47neuron recognition (GO:0008038)3.69082507
48regulation of excitatory postsynaptic membrane potential (GO:0060079)3.66926217
49cellular potassium ion homeostasis (GO:0030007)3.66157889
50membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.59179592
51positive regulation of synaptic transmission, GABAergic (GO:0032230)3.58306262
52regulation of dendritic spine morphogenesis (GO:0061001)3.52980654
53regulation of postsynaptic membrane potential (GO:0060078)3.52763772
54transmission of nerve impulse (GO:0019226)3.51765184
55regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.49684090
56potassium ion import (GO:0010107)3.49115598
57sodium ion export (GO:0071436)3.49057434
58neuromuscular process controlling balance (GO:0050885)3.48760473
59synaptic vesicle endocytosis (GO:0048488)3.48456528
60regulation of synaptic plasticity (GO:0048167)3.48131824
61regulation of neurotransmitter secretion (GO:0046928)3.47354430
62regulation of neurotransmitter levels (GO:0001505)3.46516316
63postsynaptic membrane organization (GO:0001941)3.42039729
64calcium ion-dependent exocytosis (GO:0017156)3.37388214
65auditory behavior (GO:0031223)3.37016756
66glycine transport (GO:0015816)3.36518327
67neuromuscular process controlling posture (GO:0050884)3.35930578
68positive regulation of synapse maturation (GO:0090129)3.35764272
69axonal fasciculation (GO:0007413)3.35188964
70dendrite morphogenesis (GO:0048813)3.34834644
71membrane depolarization during action potential (GO:0086010)3.32682923
72cytoskeletal anchoring at plasma membrane (GO:0007016)3.31557032
73neuromuscular synaptic transmission (GO:0007274)3.31033565
74regulation of vesicle fusion (GO:0031338)3.30984425
75cerebellar Purkinje cell differentiation (GO:0021702)3.29247336
76response to auditory stimulus (GO:0010996)3.28339079
77neuronal ion channel clustering (GO:0045161)3.25948843
78acidic amino acid transport (GO:0015800)3.25410006
79positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.24528474
80G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.23911739
81regulation of synaptic transmission, glutamatergic (GO:0051966)3.22122671
82positive regulation of neurotransmitter secretion (GO:0001956)3.21724621
83vesicle transport along microtubule (GO:0047496)3.21171489
84positive regulation of neurotransmitter transport (GO:0051590)3.20849997
85regulation of neurotransmitter transport (GO:0051588)3.19249710
86positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.18340336
87cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.16229925
88positive regulation of dendritic spine development (GO:0060999)3.14401498
89membrane depolarization (GO:0051899)3.14160574
90intraspecies interaction between organisms (GO:0051703)3.14013726
91social behavior (GO:0035176)3.14013726
92gamma-aminobutyric acid signaling pathway (GO:0007214)3.13926554
93prepulse inhibition (GO:0060134)3.13371092
94positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.13185076
95regulation of ARF protein signal transduction (GO:0032012)3.13061227
96long-term synaptic potentiation (GO:0060291)3.10367107
97cellular sodium ion homeostasis (GO:0006883)3.10105973
98cell migration in hindbrain (GO:0021535)3.09339591
99cell communication by electrical coupling (GO:0010644)3.07971109
100regulation of dendritic spine development (GO:0060998)3.04916611
101dendritic spine organization (GO:0097061)3.04627751
102regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.04492248
103membrane hyperpolarization (GO:0060081)3.04170109
104chemosensory behavior (GO:0007635)3.04027559
105positive regulation of dendrite development (GO:1900006)3.02679532
106learning (GO:0007612)3.00599234
107synapse assembly (GO:0007416)2.99097491
108synaptic vesicle transport (GO:0048489)2.98823750
109establishment of synaptic vesicle localization (GO:0097480)2.98823750
110negative regulation of synaptic transmission, GABAergic (GO:0032229)2.97779514
111mating behavior (GO:0007617)2.97539329
112regulation of exocytosis (GO:0017157)2.96041068
113presynaptic membrane organization (GO:0097090)2.95023665
114regulation of synaptic transmission (GO:0050804)2.95002221
115negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.94282695
116serotonin metabolic process (GO:0042428)2.94143001
117innervation (GO:0060384)2.92649886
118neuromuscular process (GO:0050905)2.92525718
119regulation of calcium ion-dependent exocytosis (GO:0017158)2.92237485
120presynaptic membrane assembly (GO:0097105)2.91916172
121positive regulation of synaptic transmission (GO:0050806)2.91867719
122organelle transport along microtubule (GO:0072384)2.91286582
123cerebellar Purkinje cell layer development (GO:0021680)2.90393516
124synaptic transmission (GO:0007268)2.89671262

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.50060382
2GBX2_23144817_ChIP-Seq_PC3_Human3.11717790
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.91191760
4* REST_21632747_ChIP-Seq_MESCs_Mouse2.87437207
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.84679029
6SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.76069609
7* RARB_27405468_Chip-Seq_BRAIN_Mouse2.55868253
8* DROSHA_22980978_ChIP-Seq_HELA_Human2.53660273
9EZH2_18974828_ChIP-Seq_MESCs_Mouse2.50425690
10RNF2_18974828_ChIP-Seq_MESCs_Mouse2.50425690
11* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.49292544
12JARID2_20075857_ChIP-Seq_MESCs_Mouse2.44499190
13* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.41152413
14EZH2_27304074_Chip-Seq_ESCs_Mouse2.37199639
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.36858972
16REST_18959480_ChIP-ChIP_MESCs_Mouse2.28356224
17SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.27899293
18* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.26840635
19SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.25513460
20THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.23128978
21NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.22501144
22EZH2_27294783_Chip-Seq_ESCs_Mouse2.22268542
23CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.14757672
24GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.11926004
25ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.11817434
26RNF2_27304074_Chip-Seq_ESCs_Mouse2.10654180
27MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.04815131
28EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.04030126
29IKZF1_21737484_ChIP-ChIP_HCT116_Human2.01695551
30EED_16625203_ChIP-ChIP_MESCs_Mouse1.98536701
31CTBP2_25329375_ChIP-Seq_LNCAP_Human1.73125922
32AR_21572438_ChIP-Seq_LNCaP_Human1.67346448
33ZNF274_21170338_ChIP-Seq_K562_Hela1.55068914
34SMAD4_21799915_ChIP-Seq_A2780_Human1.54891817
35TAF15_26573619_Chip-Seq_HEK293_Human1.54106799
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.52081846
37* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.52024634
38ERG_21242973_ChIP-ChIP_JURKAT_Human1.48589214
39* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.42108107
40TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.35038043
41RING1B_27294783_Chip-Seq_ESCs_Mouse1.32565333
42SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.32235190
43TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.26409528
44* SOX2_21211035_ChIP-Seq_LN229_Gbm1.24796190
45PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.23929475
46ZFP57_27257070_Chip-Seq_ESCs_Mouse1.23644583
47CBX2_27304074_Chip-Seq_ESCs_Mouse1.21944818
48SMAD3_21741376_ChIP-Seq_EPCs_Human1.20328988
49NR3C1_23031785_ChIP-Seq_PC12_Mouse1.20024029
50GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.17330494
51ZFP281_27345836_Chip-Seq_ESCs_Mouse1.17323401
52AR_19668381_ChIP-Seq_PC3_Human1.17218709
53DNAJC2_21179169_ChIP-ChIP_NT2_Human1.17049612
54AR_25329375_ChIP-Seq_VCAP_Human1.16392336
55STAT3_23295773_ChIP-Seq_U87_Human1.15774754
56P300_19829295_ChIP-Seq_ESCs_Human1.15738915
57WT1_25993318_ChIP-Seq_PODOCYTE_Human1.13607721
58MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.12313700
59* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.09821042
60RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.09065105
61TOP2B_26459242_ChIP-Seq_MCF-7_Human1.08966664
62TCF4_23295773_ChIP-Seq_U87_Human1.06648198
63* KDM2B_26808549_Chip-Seq_K562_Human1.06321479
64RNF2_27304074_Chip-Seq_NSC_Mouse1.05439654
65GATA1_26923725_Chip-Seq_HPCs_Mouse1.05120266
66RING1B_27294783_Chip-Seq_NPCs_Mouse1.04748238
67ZFP281_18757296_ChIP-ChIP_E14_Mouse1.04489458
68* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.04136164
69PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.03087079
70SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.02770693
71RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.02438091
72CDX2_19796622_ChIP-Seq_MESCs_Mouse1.02327135
73CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.01944580
74OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.00877490
75PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.00671134
76YAP1_20516196_ChIP-Seq_MESCs_Mouse1.00223886
77SMAD3_21741376_ChIP-Seq_ESCs_Human0.99867539
78ARNT_22903824_ChIP-Seq_MCF-7_Human0.99420142
79P53_22127205_ChIP-Seq_FIBROBLAST_Human0.99172417
80* LXR_22292898_ChIP-Seq_THP-1_Human0.98401767
81* OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.98022258
82* SMC4_20622854_ChIP-Seq_HELA_Human0.97705327
83* OCT4_19829295_ChIP-Seq_ESCs_Human0.97539140
84SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.97386039
85BMI1_23680149_ChIP-Seq_NPCS_Mouse0.96908194
86* TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.96436737
87GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.96410596
88SMAD_19615063_ChIP-ChIP_OVARY_Human0.96305274
89ZNF217_24962896_ChIP-Seq_MCF-7_Human0.96068150
90* ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.94572082
91IGF1R_20145208_ChIP-Seq_DFB_Human0.94308754
92SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.94040895
93AHR_22903824_ChIP-Seq_MCF-7_Human0.94028500
94SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93566775
95AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.92407954
96PIAS1_25552417_ChIP-Seq_VCAP_Human0.92248793
97TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91278763
98STAT6_21828071_ChIP-Seq_BEAS2B_Human0.90961200
99DPY_21335234_ChIP-Seq_ESCs_Mouse0.90878299
100WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.90594737
101SMAD4_21741376_ChIP-Seq_HESCs_Human0.89805251
102RUNX2_22187159_ChIP-Seq_PCA_Human0.89186182
103POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.89179248
104TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89179248
105TET1_21490601_ChIP-Seq_MESCs_Mouse0.89057402
106* KLF4_19829295_ChIP-Seq_ESCs_Human0.88844801
107* CTCF_27219007_Chip-Seq_Bcells_Human0.88501892
108NR3C1_21868756_ChIP-Seq_MCF10A_Human0.88360003
109BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.86711764
110SMAD3_21741376_ChIP-Seq_HESCs_Human0.86592248
111PRDM14_20953172_ChIP-Seq_ESCs_Human0.86151975
112RUNX1_26923725_Chip-Seq_HPCs_Mouse0.85084152
113PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.84649595
114TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.84636951
115CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84595097
116SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.84385486
117CTNNB1_20460455_ChIP-Seq_HCT116_Human0.82907150
118KDM2B_26808549_Chip-Seq_SUP-B15_Human0.82688490
119P68_20966046_ChIP-Seq_HELA_Human0.80055785
120TP53_20018659_ChIP-ChIP_R1E_Mouse0.76628419
121TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.76347012
122* SMAD4_21741376_ChIP-Seq_ESCs_Human0.75784046

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.75896389
2MP0003880_abnormal_central_pattern4.63948883
3MP0003635_abnormal_synaptic_transmissio4.21088741
4MP0004270_analgesia3.87195320
5MP0009745_abnormal_behavioral_response3.41630776
6MP0002063_abnormal_learning/memory/cond3.33476285
7MP0005423_abnormal_somatic_nervous3.22424443
8MP0002064_seizures3.16398429
9MP0009046_muscle_twitch3.13950753
10MP0001968_abnormal_touch/_nociception2.88839920
11MP0002822_catalepsy2.80258024
12MP0002572_abnormal_emotion/affect_behav2.78928420
13MP0002734_abnormal_mechanical_nocicepti2.68694108
14MP0001486_abnormal_startle_reflex2.54235592
15MP0002272_abnormal_nervous_system2.49289827
16MP0001501_abnormal_sleep_pattern2.27176741
17MP0001440_abnormal_grooming_behavior2.14239731
18MP0009780_abnormal_chondrocyte_physiolo2.12866072
19MP0002733_abnormal_thermal_nociception2.07399957
20MP0002736_abnormal_nociception_after2.04827275
21MP0002735_abnormal_chemical_nociception2.03089406
22MP0001970_abnormal_pain_threshold1.95951687
23MP0003329_amyloid_beta_deposits1.88361160
24MP0004811_abnormal_neuron_physiology1.86873162
25MP0002909_abnormal_adrenal_gland1.84942466
26MP0002067_abnormal_sensory_capabilities1.84098085
27MP0008569_lethality_at_weaning1.81777427
28MP0000778_abnormal_nervous_system1.81378232
29MP0004858_abnormal_nervous_system1.81174263
30MP0002557_abnormal_social/conspecific_i1.77671484
31MP0002184_abnormal_innervation1.74210673
32MP0005410_abnormal_fertilization1.71282255
33MP0004924_abnormal_behavior1.69874636
34MP0005386_behavior/neurological_phenoty1.69874636
35MP0003787_abnormal_imprinting1.68289447
36MP0005646_abnormal_pituitary_gland1.67555383
37MP0006276_abnormal_autonomic_nervous1.64205854
38MP0003879_abnormal_hair_cell1.62517764
39MP0000955_abnormal_spinal_cord1.60472378
40MP0004885_abnormal_endolymph1.49297781
41MP0005645_abnormal_hypothalamus_physiol1.45650476
42MP0001984_abnormal_olfaction1.43295515
43MP0002882_abnormal_neuron_morphology1.43278124
44MP0002066_abnormal_motor_capabilities/c1.42698078
45MP0003633_abnormal_nervous_system1.39427905
46MP0003122_maternal_imprinting1.32741996
47MP0001905_abnormal_dopamine_level1.28128273
48MP0000569_abnormal_digit_pigmentation1.26673888
49MP0001502_abnormal_circadian_rhythm1.19545505
50MP0001529_abnormal_vocalization1.17852862
51MP0003631_nervous_system_phenotype1.16409520
52MP0002152_abnormal_brain_morphology1.14772645
53MP0003123_paternal_imprinting1.14564513
54MP0004142_abnormal_muscle_tone1.13537734
55MP0001348_abnormal_lacrimal_gland1.11858835
56MP0000751_myopathy1.05924401
57MP0003283_abnormal_digestive_organ1.03733198
58MP0008872_abnormal_physiological_respon1.02389077
59MP0002229_neurodegeneration1.00055670
60MP0008961_abnormal_basal_metabolism0.96611206
61MP0002069_abnormal_eating/drinking_beha0.95442726
62MP0010386_abnormal_urinary_bladder0.90768235
63MP0005551_abnormal_eye_electrophysiolog0.89841731
64MP0003690_abnormal_glial_cell0.88730018
65MP0001177_atelectasis0.88624629
66MP0008874_decreased_physiological_sensi0.88131342
67MP0003634_abnormal_glial_cell0.87746984
68MP0005535_abnormal_body_temperature0.85328331
69MP0001188_hyperpigmentation0.85293765
70MP0005623_abnormal_meninges_morphology0.83801481
71MP0004742_abnormal_vestibular_system0.83514138
72MP0004145_abnormal_muscle_electrophysio0.82518859
73MP0003698_abnormal_male_reproductive0.81455941
74MP0000920_abnormal_myelination0.81050181
75MP0000604_amyloidosis0.80646359
76MP0003632_abnormal_nervous_system0.80186285
77MP0003075_altered_response_to0.80004073
78MP0000631_abnormal_neuroendocrine_gland0.79081353
79MP0004085_abnormal_heartbeat0.77728269
80MP0000013_abnormal_adipose_tissue0.76424744
81MP0001963_abnormal_hearing_physiology0.76250155
82MP0001346_abnormal_lacrimal_gland0.75631281
83MP0008877_abnormal_DNA_methylation0.74658026
84MP0005499_abnormal_olfactory_system0.74642769
85MP0005394_taste/olfaction_phenotype0.74642769
86MP0002752_abnormal_somatic_nervous0.72836852
87MP0003172_abnormal_lysosome_physiology0.72195767
88MP0005167_abnormal_blood-brain_barrier0.70212654
89MP0002090_abnormal_vision0.69599578
90MP0004233_abnormal_muscle_weight0.68996506
91MP0001986_abnormal_taste_sensitivity0.65189070
92MP0005409_darkened_coat_color0.64301331
93MP0002638_abnormal_pupillary_reflex0.63819985
94MP0000026_abnormal_inner_ear0.63641995
95MP0004147_increased_porphyrin_level0.63490132
96MP0003121_genomic_imprinting0.60854399
97MP0001664_abnormal_digestion0.60564297
98MP0003861_abnormal_nervous_system0.60342690
99MP0004130_abnormal_muscle_cell0.59274716
100MP0003137_abnormal_impulse_conducting0.57869552
101MP0003878_abnormal_ear_physiology0.56952671
102MP0005377_hearing/vestibular/ear_phenot0.56952671
103MP0001299_abnormal_eye_distance/0.55901865
104MP0002653_abnormal_ependyma_morphology0.55045313
105MP0001943_abnormal_respiration0.54918431
106MP0002837_dystrophic_cardiac_calcinosis0.54425109
107MP0010769_abnormal_survival0.54084130
108MP0001485_abnormal_pinna_reflex0.53745496
109MP0002082_postnatal_lethality0.53496099
110MP0010768_mortality/aging0.53172009
111MP0004510_myositis0.52695649
112MP0010770_preweaning_lethality0.51824705
113MP0003956_abnormal_body_size0.49729769
114MP0001765_abnormal_ion_homeostasis0.48970269
115MP0005670_abnormal_white_adipose0.48957874

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)6.96368193
2Focal motor seizures (HP:0011153)6.94996139
3Focal seizures (HP:0007359)5.59879871
4Visual hallucinations (HP:0002367)5.30169065
5Epileptic encephalopathy (HP:0200134)4.47621944
6Progressive cerebellar ataxia (HP:0002073)4.19063521
7Atonic seizures (HP:0010819)4.08542408
8Supranuclear gaze palsy (HP:0000605)4.04499743
9Ankle clonus (HP:0011448)3.89283914
10Febrile seizures (HP:0002373)3.86920775
11Absence seizures (HP:0002121)3.83011298
12Generalized tonic-clonic seizures (HP:0002069)3.75059040
13Action tremor (HP:0002345)3.61783793
14Mutism (HP:0002300)3.55185204
15Papilledema (HP:0001085)3.46202267
16Dialeptic seizures (HP:0011146)3.44146983
17Impaired vibration sensation in the lower limbs (HP:0002166)3.42439457
18Dynein arm defect of respiratory motile cilia (HP:0012255)3.41966147
19Absent/shortened dynein arms (HP:0200106)3.41966147
20Urinary bladder sphincter dysfunction (HP:0002839)3.37953542
21Poor eye contact (HP:0000817)3.28932985
22Broad-based gait (HP:0002136)3.26755315
23Depression (HP:0000716)3.20693700
24Postural instability (HP:0002172)3.18437585
25Tetraplegia (HP:0002445)3.14542882
26Cerebral hypomyelination (HP:0006808)3.09502720
27Abnormality of the lower motor neuron (HP:0002366)3.07639305
28Gaze-evoked nystagmus (HP:0000640)3.02534628
29Annular pancreas (HP:0001734)3.01256304
30Neurofibrillary tangles (HP:0002185)3.00980826
31Abnormal eating behavior (HP:0100738)2.98371248
32Dysdiadochokinesis (HP:0002075)2.98198501
33Abnormal social behavior (HP:0012433)2.96448866
34Impaired social interactions (HP:0000735)2.96448866
35Dysmetria (HP:0001310)2.92542596
36Cerebral inclusion bodies (HP:0100314)2.91126072
37Anxiety (HP:0000739)2.87239208
38Hemiparesis (HP:0001269)2.85405176
39Urinary urgency (HP:0000012)2.84893605
40Amblyopia (HP:0000646)2.80166618
41Progressive inability to walk (HP:0002505)2.78207650
42Spastic gait (HP:0002064)2.76811389
43Genetic anticipation (HP:0003743)2.76534724
44Truncal ataxia (HP:0002078)2.75498090
45Torticollis (HP:0000473)2.68188903
46Hyperventilation (HP:0002883)2.67623914
47Drooling (HP:0002307)2.63300889
48Excessive salivation (HP:0003781)2.63300889
49Limb dystonia (HP:0002451)2.62068295
50Impaired smooth pursuit (HP:0007772)2.59616168
51Amyotrophic lateral sclerosis (HP:0007354)2.56510246
52Abnormality of the corticospinal tract (HP:0002492)2.53625835
53Bradykinesia (HP:0002067)2.53390386
54Peripheral hypomyelination (HP:0007182)2.52582398
55Diplopia (HP:0000651)2.45860316
56Abnormality of binocular vision (HP:0011514)2.45860316
57Insidious onset (HP:0003587)2.44807199
58Termporal pattern (HP:0011008)2.44807199
59Intention tremor (HP:0002080)2.44368122
60Focal dystonia (HP:0004373)2.44012582
61Lower limb muscle weakness (HP:0007340)2.40477670
62Hemiplegia (HP:0002301)2.40387533
63Spastic tetraparesis (HP:0001285)2.39937117
64Polyphagia (HP:0002591)2.37779711
65Abnormality of ocular smooth pursuit (HP:0000617)2.35653944
66Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.34698836
67Sleep apnea (HP:0010535)2.31476651
68Abnormal respiratory motile cilium physiology (HP:0012261)2.29001902
69Impaired vibratory sensation (HP:0002495)2.28423662
70Megalencephaly (HP:0001355)2.28421767
71Ventricular fibrillation (HP:0001663)2.27932007
72Epileptiform EEG discharges (HP:0011182)2.26680514
73EEG with generalized epileptiform discharges (HP:0011198)2.23461308
74Insomnia (HP:0100785)2.23323799
75Stereotypic behavior (HP:0000733)2.22974711
76Abnormal ciliary motility (HP:0012262)2.21189065
77Agitation (HP:0000713)2.21059364
78Abnormal respiratory motile cilium morphology (HP:0005938)2.18894427
79Abnormal respiratory epithelium morphology (HP:0012253)2.18894427
80Status epilepticus (HP:0002133)2.18018397
81Craniofacial dystonia (HP:0012179)2.18007412
82Absent speech (HP:0001344)2.17966519
83Diminished motivation (HP:0000745)2.17242360
84Hypsarrhythmia (HP:0002521)2.15736124
85Inability to walk (HP:0002540)2.15263570
86Clonus (HP:0002169)2.10448799
87Fetal akinesia sequence (HP:0001989)2.09322715
88Morphological abnormality of the pyramidal tract (HP:0002062)2.07660076
89Neuronal loss in central nervous system (HP:0002529)2.06772748
90Pheochromocytoma (HP:0002666)2.04314927
91Scanning speech (HP:0002168)2.03089406
92Generalized myoclonic seizures (HP:0002123)2.02610155
93Resting tremor (HP:0002322)2.01848003
94Incomplete penetrance (HP:0003829)2.00294395
95Inappropriate behavior (HP:0000719)1.98468050
96Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.97211196
97Degeneration of the lateral corticospinal tracts (HP:0002314)1.97211196
98Dysmetric saccades (HP:0000641)1.97168522
99Choreoathetosis (HP:0001266)1.96439966
100Pointed chin (HP:0000307)1.94193050
101CNS hypomyelination (HP:0003429)1.93162102
102Obstructive sleep apnea (HP:0002870)1.93108501
103Bundle branch block (HP:0011710)1.91736793
104Lower limb amyotrophy (HP:0007210)1.89771537
105Rapidly progressive (HP:0003678)1.86898897
106Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.86325342
107Gait ataxia (HP:0002066)1.85424813
108Abnormality of saccadic eye movements (HP:0000570)1.83439711
109Increased circulating renin level (HP:0000848)1.82112752
110Rigidity (HP:0002063)1.80656065
111Akinesia (HP:0002304)1.80150435
112Apathy (HP:0000741)1.80028553
113Delusions (HP:0000746)1.79804540
114Aplasia involving bones of the upper limbs (HP:0009823)1.78111587
115Aplasia of the phalanges of the hand (HP:0009802)1.78111587
116Aplasia involving bones of the extremities (HP:0009825)1.78111587
117Spastic tetraplegia (HP:0002510)1.76084055
118Rhinitis (HP:0012384)1.75764952
119Abnormality of salivation (HP:0100755)1.75099782
120Abnormal EKG (HP:0003115)1.68780648

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.20781628
2MAP3K94.07157732
3MARK13.92090604
4EPHA43.81271540
5MAP3K42.98421135
6PRKD32.90535490
7MINK12.69058408
8DAPK22.54042694
9PAK62.43878515
10NTRK22.43005768
11MAP2K72.35233397
12NTRK12.07428061
13KSR21.92525222
14CAMKK11.84803928
15PNCK1.80530632
16MAP2K41.78730394
17MAP3K121.59378599
18STK381.58890859
19CDK51.58641493
20SIK21.53453982
21RIPK41.49794428
22GRK51.45453669
23DAPK11.40531217
24TNIK1.40290564
25MAPK131.39426482
26TYRO31.37808435
27KSR11.32590457
28CASK1.28439089
29PLK21.26430078
30LATS21.24749736
31FES1.21144249
32UHMK11.20276343
33PRKCG1.19425235
34TAOK11.18436844
35PHKG21.17750522
36PHKG11.17750522
37MAP3K21.10963173
38ARAF1.03588902
39CDK191.02535361
40PDK41.00587537
41PDK31.00587537
42STK110.98846989
43PRPF4B0.92065526
44CDK150.91700530
45CDK180.90985257
46CAMK10.90157367
47CAMK2A0.88845872
48ALK0.88516882
49PRKCH0.86609683
50CDK140.86545876
51MAP3K130.86419575
52PTK2B0.83553151
53RET0.83005815
54MARK20.80608340
55CDK11A0.80269069
56PAK30.79606875
57CSNK1G20.79197733
58LMTK20.78234112
59MAPK120.78005940
60ICK0.77696938
61CAMK1G0.77534055
62MAP3K110.74576772
63SGK2230.71087383
64SGK4940.71087383
65PDK10.70791394
66CAMK40.70563888
67CAMK2G0.69583703
68CAMKK20.69438647
69DYRK1A0.67867516
70PINK10.65592584
71CAMK2B0.62645030
72RAF10.62528836
73SGK10.61388955
74PDPK10.60294278
75BRAF0.59781518
76TNK20.59528182
77CDC42BPA0.55576899
78DDR20.55173702
79PRKCZ0.54317947
80OXSR10.53248288
81MAP3K10.53145242
82RPS6KA30.50827853
83SGK30.49968598
84SGK20.49165429
85NEK60.48364343
86FYN0.46943874
87WNK10.46840384
88PLK40.46259788
89SCYL20.45950519
90MAPK100.45297241
91BRSK10.44519269
92CAMK1D0.44350907
93WNK30.44019899
94RIPK10.43810570
95PRKG20.43592742
96TESK10.42176267
97CCNB10.41784619
98PDK20.41489950
99PKN10.39358569
100PRKCE0.39296323
101LIMK10.38137416
102RPS6KA20.37902937
103FGR0.37239180
104ROCK20.37108837
105BMPR20.36403272
106MAP3K70.35652304
107PRKG10.35567275
108ROCK10.35243795
109PRKCA0.34264670
110WNK40.34195119
111DAPK30.34091444
112FER0.33460324
113MAP3K60.32970452
114MAPK80.32378786
115CAMK2D0.32330454
116PRKCB0.32190646
117GSK3B0.29884335
118INSRR0.28280688

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.56053916
2Synaptic vesicle cycle_Homo sapiens_hsa047213.38284485
3Olfactory transduction_Homo sapiens_hsa047402.75037545
4GABAergic synapse_Homo sapiens_hsa047272.71445448
5Circadian entrainment_Homo sapiens_hsa047132.68548695
6Long-term potentiation_Homo sapiens_hsa047202.55809674
7Glutamatergic synapse_Homo sapiens_hsa047242.54431817
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.53227583
9Amphetamine addiction_Homo sapiens_hsa050312.46372251
10Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.45161092
11Morphine addiction_Homo sapiens_hsa050322.45044390
12Salivary secretion_Homo sapiens_hsa049702.18677139
13Dopaminergic synapse_Homo sapiens_hsa047282.16449049
14Insulin secretion_Homo sapiens_hsa049112.11581094
15Gastric acid secretion_Homo sapiens_hsa049711.94368564
16Cholinergic synapse_Homo sapiens_hsa047251.90990943
17Aldosterone synthesis and secretion_Homo sapiens_hsa049251.84700089
18Cocaine addiction_Homo sapiens_hsa050301.75727922
19Taste transduction_Homo sapiens_hsa047421.72693405
20Renin secretion_Homo sapiens_hsa049241.70429149
21Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.70230796
22Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.68968394
23Oxytocin signaling pathway_Homo sapiens_hsa049211.62479381
24Serotonergic synapse_Homo sapiens_hsa047261.60759360
25Long-term depression_Homo sapiens_hsa047301.57246490
26Calcium signaling pathway_Homo sapiens_hsa040201.55095563
27Vitamin B6 metabolism_Homo sapiens_hsa007501.45618873
28GnRH signaling pathway_Homo sapiens_hsa049121.43714240
29Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.36425694
30Gap junction_Homo sapiens_hsa045401.35641601
31Type II diabetes mellitus_Homo sapiens_hsa049301.31006968
32Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.30460483
33Collecting duct acid secretion_Homo sapiens_hsa049661.30169060
34Estrogen signaling pathway_Homo sapiens_hsa049151.26995353
35Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.26894318
36cAMP signaling pathway_Homo sapiens_hsa040241.26666602
37Axon guidance_Homo sapiens_hsa043601.16025868
38Nitrogen metabolism_Homo sapiens_hsa009101.12343622
39Phosphatidylinositol signaling system_Homo sapiens_hsa040701.11435815
40Glioma_Homo sapiens_hsa052141.10651389
41Dorso-ventral axis formation_Homo sapiens_hsa043201.07409187
42Melanogenesis_Homo sapiens_hsa049161.03009779
43ErbB signaling pathway_Homo sapiens_hsa040121.01780298
44cGMP-PKG signaling pathway_Homo sapiens_hsa040221.01527801
45Cardiac muscle contraction_Homo sapiens_hsa042601.00674005
46Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.00493066
47Oocyte meiosis_Homo sapiens_hsa041140.97503606
48Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.95314410
49Vascular smooth muscle contraction_Homo sapiens_hsa042700.91780791
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.87867518
51Pancreatic secretion_Homo sapiens_hsa049720.87202312
52Vibrio cholerae infection_Homo sapiens_hsa051100.82493026
53Carbohydrate digestion and absorption_Homo sapiens_hsa049730.82221815
54Thyroid hormone synthesis_Homo sapiens_hsa049180.81751696
55Phototransduction_Homo sapiens_hsa047440.81159389
56Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.78889350
57MAPK signaling pathway_Homo sapiens_hsa040100.71798093
58Glucagon signaling pathway_Homo sapiens_hsa049220.69931206
59Choline metabolism in cancer_Homo sapiens_hsa052310.69248236
60Dilated cardiomyopathy_Homo sapiens_hsa054140.68249947
61Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.67520361
62Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.65067783
63Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.64445873
64VEGF signaling pathway_Homo sapiens_hsa043700.62913008
65Neurotrophin signaling pathway_Homo sapiens_hsa047220.62707928
66Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.60559007
67Bile secretion_Homo sapiens_hsa049760.59193423
68Endocytosis_Homo sapiens_hsa041440.58907539
69Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.58609688
70Ras signaling pathway_Homo sapiens_hsa040140.57827006
71Thyroid hormone signaling pathway_Homo sapiens_hsa049190.57733876
72Type I diabetes mellitus_Homo sapiens_hsa049400.57254067
73Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.56023290
74Alcoholism_Homo sapiens_hsa050340.54966484
75mTOR signaling pathway_Homo sapiens_hsa041500.52751210
76Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.52471497
77Sphingolipid signaling pathway_Homo sapiens_hsa040710.51883866
78Rap1 signaling pathway_Homo sapiens_hsa040150.51294775
79Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.51239749
80Inositol phosphate metabolism_Homo sapiens_hsa005620.48369497
81Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.46049590
82Prion diseases_Homo sapiens_hsa050200.45844450
83Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.44306308
84Endometrial cancer_Homo sapiens_hsa052130.44142125
85Insulin signaling pathway_Homo sapiens_hsa049100.43840238
86Longevity regulating pathway - mammal_Homo sapiens_hsa042110.43484977
87Renal cell carcinoma_Homo sapiens_hsa052110.42706404
88Wnt signaling pathway_Homo sapiens_hsa043100.42483007
89Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.42009123
90Ovarian steroidogenesis_Homo sapiens_hsa049130.40863926
91Arginine and proline metabolism_Homo sapiens_hsa003300.38394394
92Arginine biosynthesis_Homo sapiens_hsa002200.37877496
93Fatty acid biosynthesis_Homo sapiens_hsa000610.36959978
94Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.36628398
95Glycerophospholipid metabolism_Homo sapiens_hsa005640.35789747
96Non-small cell lung cancer_Homo sapiens_hsa052230.34219005
97Circadian rhythm_Homo sapiens_hsa047100.33714384
98Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.31991113
99Chemokine signaling pathway_Homo sapiens_hsa040620.30643720
100Tight junction_Homo sapiens_hsa045300.30380808
101SNARE interactions in vesicular transport_Homo sapiens_hsa041300.30231654
102Histidine metabolism_Homo sapiens_hsa003400.30061996
103Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.29809240
104African trypanosomiasis_Homo sapiens_hsa051430.28052059
105Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.27357030
106Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.25522137
107Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.25345872
108Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.23704579
109Mineral absorption_Homo sapiens_hsa049780.23117900
110AMPK signaling pathway_Homo sapiens_hsa041520.19839406
111Hippo signaling pathway_Homo sapiens_hsa043900.18698452
112HIF-1 signaling pathway_Homo sapiens_hsa040660.18330789

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