KIAA0319

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 transmembrane protein that contains a large extracellular domain with multiple polycystic kidney disease (PKD) domains. The encoded protein may play a role in the development of the cerebral cortex by regulating neuronal migration and cell adhesion. Single nucleotide polymorphisms in this gene are associated with dyslexia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)6.18624923
2synaptic vesicle docking involved in exocytosis (GO:0016081)5.43062675
3regulation of short-term neuronal synaptic plasticity (GO:0048172)5.29059925
4glutamate secretion (GO:0014047)5.11691232
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.84177172
6membrane depolarization during cardiac muscle cell action potential (GO:0086012)4.58842528
7positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.55161478
8synaptic vesicle exocytosis (GO:0016079)4.53527607
9ionotropic glutamate receptor signaling pathway (GO:0035235)4.38339536
10regulation of synaptic vesicle exocytosis (GO:2000300)4.33682468
11neurotransmitter secretion (GO:0007269)4.19281961
12dendritic spine morphogenesis (GO:0060997)4.07848384
13synaptic transmission, glutamatergic (GO:0035249)3.88480591
14regulation of synaptic vesicle transport (GO:1902803)3.82112123
15glutamate receptor signaling pathway (GO:0007215)3.79201767
16presynaptic membrane organization (GO:0097090)3.78433384
17neuronal action potential propagation (GO:0019227)3.74571339
18presynaptic membrane assembly (GO:0097105)3.67426077
19exploration behavior (GO:0035640)3.64507140
20locomotory exploration behavior (GO:0035641)3.63329261
21neuron-neuron synaptic transmission (GO:0007270)3.61408709
22cellular potassium ion homeostasis (GO:0030007)3.59586797
23detection of calcium ion (GO:0005513)3.59342509
24negative regulation of dendrite morphogenesis (GO:0050774)3.57820070
25postsynaptic membrane organization (GO:0001941)3.51409276
26neurotransmitter-gated ion channel clustering (GO:0072578)3.50847481
27gamma-aminobutyric acid transport (GO:0015812)3.47150561
28regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.46433299
29axonemal dynein complex assembly (GO:0070286)3.43858097
30vocalization behavior (GO:0071625)3.41545984
31cilium movement (GO:0003341)3.39902837
32neurotransmitter transport (GO:0006836)3.37816674
33proline transport (GO:0015824)3.33564994
34neuron cell-cell adhesion (GO:0007158)3.33522800
35cilium or flagellum-dependent cell motility (GO:0001539)3.33059506
36regulation of neuronal synaptic plasticity (GO:0048168)3.32677078
37positive regulation of membrane potential (GO:0045838)3.32437394
38inositol phosphate catabolic process (GO:0071545)3.30294893
39regulation of excitatory postsynaptic membrane potential (GO:0060079)3.28561696
40positive regulation of neurotransmitter transport (GO:0051590)3.27609610
41protein localization to synapse (GO:0035418)3.27179508
42* negative regulation of dendrite development (GO:2000171)3.26051755
43regulation of neurotransmitter secretion (GO:0046928)3.25206778
44regulation of postsynaptic membrane potential (GO:0060078)3.24186532
45regulation of neurotransmitter transport (GO:0051588)3.21282116
46membrane depolarization during action potential (GO:0086010)3.19035951
47positive regulation of synapse maturation (GO:0090129)3.16587580
48sodium ion export (GO:0071436)3.15502223
49regulation of neurotransmitter levels (GO:0001505)3.15364444
50regulation of dendritic spine morphogenesis (GO:0061001)3.13562934
51regulation of synapse structural plasticity (GO:0051823)3.13174158
52positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.12496090
53regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.12018712
54transmission of nerve impulse (GO:0019226)3.11174265
55positive regulation of neurotransmitter secretion (GO:0001956)3.10658476
56positive regulation of dendritic spine morphogenesis (GO:0061003)3.09532140
57axoneme assembly (GO:0035082)3.08283917
58axonal fasciculation (GO:0007413)3.06086498
59regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.05851495
60regulation of calcium ion-dependent exocytosis (GO:0017158)3.05753625
61cerebellar granule cell differentiation (GO:0021707)3.03618034
62regulation of vesicle fusion (GO:0031338)3.02866326
63negative regulation of synaptic transmission, GABAergic (GO:0032229)3.00827787
64regulation of long-term neuronal synaptic plasticity (GO:0048169)3.00232073
65protein localization to cilium (GO:0061512)2.99600776
66neuronal ion channel clustering (GO:0045161)2.98975376
67cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.96322108
68positive regulation of dendritic spine development (GO:0060999)2.95851568
69central nervous system projection neuron axonogenesis (GO:0021952)2.95658000
70long-term synaptic potentiation (GO:0060291)2.95286038
71epithelial cilium movement (GO:0003351)2.93445997
72membrane depolarization (GO:0051899)2.92388007
73regulation of dendritic spine development (GO:0060998)2.90679378
74chemosensory behavior (GO:0007635)2.90161797
75cerebellar Purkinje cell differentiation (GO:0021702)2.89691739
76regulation of glutamate receptor signaling pathway (GO:1900449)2.88899971
77gamma-aminobutyric acid signaling pathway (GO:0007214)2.88675024
78startle response (GO:0001964)2.87901568
79neuromuscular process controlling posture (GO:0050884)2.87357856
80neuron recognition (GO:0008038)2.86645596
81insulin secretion (GO:0030073)2.86011406
82potassium ion homeostasis (GO:0055075)2.85970664
83regulation of neurotransmitter uptake (GO:0051580)2.85752581
84potassium ion import (GO:0010107)2.85388892
85negative regulation of inclusion body assembly (GO:0090084)2.84745340
86nucleobase catabolic process (GO:0046113)2.84002119
87calcium ion-dependent exocytosis (GO:0017156)2.83596842
88auditory behavior (GO:0031223)2.81936494
89serotonin metabolic process (GO:0042428)2.81704418
90regulation of synaptic transmission, glutamatergic (GO:0051966)2.81422846
91central nervous system neuron axonogenesis (GO:0021955)2.80083477
92regulation of synaptic plasticity (GO:0048167)2.79639262
93regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.74080277
94epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.72539834
95long term synaptic depression (GO:0060292)2.71400057
96synaptic transmission (GO:0007268)2.71236760
97synaptic vesicle endocytosis (GO:0048488)2.71189125
98dendritic spine organization (GO:0097061)2.70644323
99regulation of synapse maturation (GO:0090128)2.70602431
100L-amino acid import (GO:0043092)2.69533493

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human3.99842827
2GBX2_23144817_ChIP-Seq_PC3_Human3.51280363
3NR4A2_19515692_ChIP-ChIP_MN9D_Mouse3.18783959
4REST_21632747_ChIP-Seq_MESCs_Mouse2.81397393
5* DROSHA_22980978_ChIP-Seq_HELA_Human2.56128746
6FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.52126858
7SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.37885333
8ZFP57_27257070_Chip-Seq_ESCs_Mouse2.30859774
9ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.25709601
10REST_18959480_ChIP-ChIP_MESCs_Mouse2.09831527
11BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.08734001
12JARID2_20064375_ChIP-Seq_MESCs_Mouse2.08350065
13SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.06846860
14SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.03539600
15SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.01285810
16CTBP2_25329375_ChIP-Seq_LNCAP_Human1.95093238
17TAF15_26573619_Chip-Seq_HEK293_Human1.82190888
18MTF2_20144788_ChIP-Seq_MESCs_Mouse1.82121636
19RARB_27405468_Chip-Seq_BRAIN_Mouse1.81500908
20JARID2_20075857_ChIP-Seq_MESCs_Mouse1.81486378
21SMAD4_21799915_ChIP-Seq_A2780_Human1.81387136
22IGF1R_20145208_ChIP-Seq_DFB_Human1.81245295
23EZH2_27304074_Chip-Seq_ESCs_Mouse1.77779715
24EZH2_27294783_Chip-Seq_ESCs_Mouse1.73165344
25SUZ12_27294783_Chip-Seq_ESCs_Mouse1.70826580
26GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.70490169
27SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.69073975
28POU3F2_20337985_ChIP-ChIP_501MEL_Human1.68803770
29SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.67869166
30TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.64145185
31SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.62282849
32PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.61791233
33SMAD3_21741376_ChIP-Seq_EPCs_Human1.59799305
34RNF2_27304074_Chip-Seq_ESCs_Mouse1.59628616
35SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.59274873
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.57648021
37EZH2_18974828_ChIP-Seq_MESCs_Mouse1.55318960
38RNF2_18974828_ChIP-Seq_MESCs_Mouse1.55318960
39AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.52543261
40EED_16625203_ChIP-ChIP_MESCs_Mouse1.51993105
41PIAS1_25552417_ChIP-Seq_VCAP_Human1.51291670
42STAT3_23295773_ChIP-Seq_U87_Human1.49333541
43SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.49322546
44P300_19829295_ChIP-Seq_ESCs_Human1.46626368
45AR_25329375_ChIP-Seq_VCAP_Human1.46520756
46TCF4_23295773_ChIP-Seq_U87_Human1.43414231
47BMI1_23680149_ChIP-Seq_NPCS_Mouse1.41491227
48GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.41251712
49CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.41064816
50CDX2_19796622_ChIP-Seq_MESCs_Mouse1.37636176
51CBX2_27304074_Chip-Seq_ESCs_Mouse1.36309825
52MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.33290535
53RNF2_27304074_Chip-Seq_NSC_Mouse1.32693033
54NR3C1_21868756_ChIP-Seq_MCF10A_Human1.32125411
55AR_21572438_ChIP-Seq_LNCaP_Human1.32050168
56BCAT_22108803_ChIP-Seq_LS180_Human1.32045627
57TOP2B_26459242_ChIP-Seq_MCF-7_Human1.31362913
58RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.31335003
59OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30365763
60ZNF217_24962896_ChIP-Seq_MCF-7_Human1.29641714
61SOX2_21211035_ChIP-Seq_LN229_Gbm1.29469574
62VDR_22108803_ChIP-Seq_LS180_Human1.26256644
63ZNF274_21170338_ChIP-Seq_K562_Hela1.25585471
64TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.24207346
65POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.22351727
66TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22351727
67TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.22329629
68TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.19302191
69NANOG_18555785_Chip-Seq_ESCs_Mouse1.17139596
70RUNX2_22187159_ChIP-Seq_PCA_Human1.16458461
71NR3C1_23031785_ChIP-Seq_PC12_Mouse1.15536659
72AR_19668381_ChIP-Seq_PC3_Human1.14627549
73ARNT_22903824_ChIP-Seq_MCF-7_Human1.13692189
74FUS_26573619_Chip-Seq_HEK293_Human1.13684236
75* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.10398260
76PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.10314318
77RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.09233536
78IKZF1_21737484_ChIP-ChIP_HCT116_Human1.06221334
79TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.05671870
80AHR_22903824_ChIP-Seq_MCF-7_Human1.05521344
81SMAD4_21741376_ChIP-Seq_EPCs_Human1.05464880
82CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.04849773
83MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04698420
84PRDM14_20953172_ChIP-Seq_ESCs_Human1.03825775
85FLI1_27457419_Chip-Seq_LIVER_Mouse1.03370723
86ER_23166858_ChIP-Seq_MCF-7_Human1.03229795
87SMAD3_21741376_ChIP-Seq_HESCs_Human1.02613401
88SMAD4_21741376_ChIP-Seq_HESCs_Human1.01269825
89WT1_25993318_ChIP-Seq_PODOCYTE_Human0.99295553
90LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.98610335
91TCF4_22108803_ChIP-Seq_LS180_Human0.98427939
92P53_22387025_ChIP-Seq_ESCs_Mouse0.96258899
93KDM2B_26808549_Chip-Seq_REH_Human0.95863396
94EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.95428234
95* IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.94794304
96* CBP_20019798_ChIP-Seq_JUKART_Human0.94794304
97RING1B_27294783_Chip-Seq_ESCs_Mouse0.94471944
98FLI1_21867929_ChIP-Seq_TH2_Mouse0.93724671
99E2F1_18555785_Chip-Seq_ESCs_Mouse0.93444370
100CMYC_18555785_Chip-Seq_ESCs_Mouse0.93320736

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity4.64278732
2MP0004270_analgesia4.45203390
3MP0003880_abnormal_central_pattern4.03584973
4MP0009046_muscle_twitch3.34204448
5MP0003635_abnormal_synaptic_transmissio3.32483219
6MP0009745_abnormal_behavioral_response3.25910787
7MP0002064_seizures3.15086528
8MP0001968_abnormal_touch/_nociception2.76603778
9MP0002734_abnormal_mechanical_nocicepti2.76441947
10MP0002063_abnormal_learning/memory/cond2.72336795
11MP0002735_abnormal_chemical_nociception2.60161512
12MP0002272_abnormal_nervous_system2.60158739
13MP0005423_abnormal_somatic_nervous2.54835543
14MP0001486_abnormal_startle_reflex2.48481511
15MP0002572_abnormal_emotion/affect_behav2.47932507
16MP0003787_abnormal_imprinting2.38972073
17MP0002822_catalepsy2.36516836
18MP0001501_abnormal_sleep_pattern2.22280521
19MP0001984_abnormal_olfaction2.21452693
20MP0002909_abnormal_adrenal_gland2.08033391
21MP0001970_abnormal_pain_threshold1.99773265
22MP0000569_abnormal_digit_pigmentation1.99063177
23MP0009780_abnormal_chondrocyte_physiolo1.99048815
24MP0002733_abnormal_thermal_nociception1.86905714
25MP0008877_abnormal_DNA_methylation1.84448271
26MP0002736_abnormal_nociception_after1.81500252
27MP0003879_abnormal_hair_cell1.77764099
28MP0002067_abnormal_sensory_capabilities1.77698180
29MP0004885_abnormal_endolymph1.75136421
30MP0002837_dystrophic_cardiac_calcinosis1.72755007
31MP0005551_abnormal_eye_electrophysiolog1.67409164
32MP0003633_abnormal_nervous_system1.67144860
33MP0000778_abnormal_nervous_system1.64471155
34MP0005646_abnormal_pituitary_gland1.63489154
35MP0005386_behavior/neurological_phenoty1.62961898
36MP0004924_abnormal_behavior1.62961898
37MP0004811_abnormal_neuron_physiology1.60936996
38MP0002557_abnormal_social/conspecific_i1.60487290
39MP0001502_abnormal_circadian_rhythm1.54247780
40MP0001440_abnormal_grooming_behavior1.49123033
41MP0006276_abnormal_autonomic_nervous1.46672367
42MP0008569_lethality_at_weaning1.41714513
43MP0001905_abnormal_dopamine_level1.40427213
44MP0002882_abnormal_neuron_morphology1.37719976
45MP0002229_neurodegeneration1.37599477
46MP0003122_maternal_imprinting1.34444398
47MP0002066_abnormal_motor_capabilities/c1.32006112
48MP0004742_abnormal_vestibular_system1.29175367
49MP0003631_nervous_system_phenotype1.28250763
50MP0010234_abnormal_vibrissa_follicle1.23939984
51MP0002638_abnormal_pupillary_reflex1.23657058
52MP0000955_abnormal_spinal_cord1.21114442
53MP0001944_abnormal_pancreas_morphology1.20824986
54MP0003690_abnormal_glial_cell1.19968623
55MP0003195_calcinosis1.19908064
56MP0003329_amyloid_beta_deposits1.17026591
57MP0002184_abnormal_innervation1.14272397
58MP0001986_abnormal_taste_sensitivity1.09090839
59MP0005645_abnormal_hypothalamus_physiol1.08388315
60MP0010386_abnormal_urinary_bladder1.06334945
61MP0002653_abnormal_ependyma_morphology1.03338492
62MP0005379_endocrine/exocrine_gland_phen1.02545367
63MP0004043_abnormal_pH_regulation1.00779987
64MP0005253_abnormal_eye_physiology1.00019592
65MP0004142_abnormal_muscle_tone0.99633140
66MP0001485_abnormal_pinna_reflex0.99223252
67MP0000013_abnormal_adipose_tissue0.99142269
68MP0002693_abnormal_pancreas_physiology0.97717918
69MP0002090_abnormal_vision0.96518576
70MP0005535_abnormal_body_temperature0.95870046
71MP0008872_abnormal_physiological_respon0.95132142
72MP0002152_abnormal_brain_morphology0.94354216
73MP0002876_abnormal_thyroid_physiology0.91949606
74MP0008875_abnormal_xenobiotic_pharmacok0.91901427
75MP0001963_abnormal_hearing_physiology0.91311943
76MP0003172_abnormal_lysosome_physiology0.91115546
77MP0002069_abnormal_eating/drinking_beha0.90953074
78MP0000631_abnormal_neuroendocrine_gland0.90295325
79MP0003632_abnormal_nervous_system0.90231639
80MP0000920_abnormal_myelination0.89223664
81MP0002928_abnormal_bile_duct0.83456705
82MP0006072_abnormal_retinal_apoptosis0.82203451
83MP0002752_abnormal_somatic_nervous0.79430532
84MP0002078_abnormal_glucose_homeostasis0.78136668
85MP0001529_abnormal_vocalization0.72182966
86MP0001765_abnormal_ion_homeostasis0.72140594
87MP0003121_genomic_imprinting0.72106260
88MP0002102_abnormal_ear_morphology0.71193187
89MP0003634_abnormal_glial_cell0.69309238
90MP0005448_abnormal_energy_balance0.67523208
91MP0004147_increased_porphyrin_level0.67483545
92MP0003283_abnormal_digestive_organ0.66180442
93MP0004085_abnormal_heartbeat0.65845495
94MP0003953_abnormal_hormone_level0.63112132
95MP0008874_decreased_physiological_sensi0.62834342
96MP0004215_abnormal_myocardial_fiber0.61145978
97MP0000427_abnormal_hair_cycle0.60244502
98MP0003123_paternal_imprinting0.57435250
99MP0010329_abnormal_lipoprotein_level0.56986521
100MP0005187_abnormal_penis_morphology0.56254568

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)5.37290971
2Myokymia (HP:0002411)5.35710553
3Focal seizures (HP:0007359)4.66512325
4Action tremor (HP:0002345)4.66321895
5Febrile seizures (HP:0002373)4.55138641
6Epileptic encephalopathy (HP:0200134)4.48811150
7Progressive cerebellar ataxia (HP:0002073)4.45214014
8Respiratory insufficiency due to defective ciliary clearance (HP:0200073)4.01061878
9Abnormal ciliary motility (HP:0012262)3.93360960
10Abnormal respiratory motile cilium morphology (HP:0005938)3.80811471
11Abnormal respiratory epithelium morphology (HP:0012253)3.80811471
12Dynein arm defect of respiratory motile cilia (HP:0012255)3.75633301
13Absent/shortened dynein arms (HP:0200106)3.75633301
14Abnormal respiratory motile cilium physiology (HP:0012261)3.74575601
15Hyperventilation (HP:0002883)3.51965414
16Rhinitis (HP:0012384)3.37392007
17Gaze-evoked nystagmus (HP:0000640)3.37239217
18Atonic seizures (HP:0010819)3.36546361
19Epileptiform EEG discharges (HP:0011182)3.23670348
20Hemiparesis (HP:0001269)3.20912781
21Generalized tonic-clonic seizures (HP:0002069)3.11254953
22EEG with generalized epileptiform discharges (HP:0011198)3.06454136
23Dialeptic seizures (HP:0011146)3.03350728
24Broad-based gait (HP:0002136)3.02951790
25Absence seizures (HP:0002121)2.99239690
26Limb dystonia (HP:0002451)2.99092118
27Polyphagia (HP:0002591)2.98901776
28Hypsarrhythmia (HP:0002521)2.96412325
29Pancreatic fibrosis (HP:0100732)2.93810727
30Dysdiadochokinesis (HP:0002075)2.93380738
31Absent speech (HP:0001344)2.83989316
32Impaired vibration sensation in the lower limbs (HP:0002166)2.79313268
33Abnormal eating behavior (HP:0100738)2.77365511
34Supranuclear gaze palsy (HP:0000605)2.77066644
35Ankle clonus (HP:0011448)2.67893865
36Diplopia (HP:0000651)2.65170331
37Abnormality of binocular vision (HP:0011514)2.65170331
38Urinary bladder sphincter dysfunction (HP:0002839)2.62831908
39Amblyopia (HP:0000646)2.62821699
40Spastic gait (HP:0002064)2.57220438
41Gait imbalance (HP:0002141)2.56612129
42True hermaphroditism (HP:0010459)2.54871053
43Abnormality of the corticospinal tract (HP:0002492)2.54865168
44Status epilepticus (HP:0002133)2.51497115
45Impaired vibratory sensation (HP:0002495)2.48093248
46Genetic anticipation (HP:0003743)2.47859744
47Truncal ataxia (HP:0002078)2.45593170
48Postural instability (HP:0002172)2.44934400
49Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.43302921
50Degeneration of the lateral corticospinal tracts (HP:0002314)2.43302921
51Postural tremor (HP:0002174)2.39442750
52Pancreatic cysts (HP:0001737)2.31345744
53Medial flaring of the eyebrow (HP:0010747)2.29179349
54Torticollis (HP:0000473)2.27847052
55Intestinal atresia (HP:0011100)2.27640200
56Visual hallucinations (HP:0002367)2.27246132
57Bronchiectasis (HP:0002110)2.23972398
58Anxiety (HP:0000739)2.23139176
59Cystic liver disease (HP:0006706)2.22315364
60Intention tremor (HP:0002080)2.22040266
61Poor eye contact (HP:0000817)2.20681757
62Urinary urgency (HP:0000012)2.18548229
63Drooling (HP:0002307)2.14482804
64Neurofibrillary tangles (HP:0002185)2.14079066
65Impaired smooth pursuit (HP:0007772)2.13337838
66Depression (HP:0000716)2.11837412
67Nephronophthisis (HP:0000090)2.11122043
68Double outlet right ventricle (HP:0001719)2.09610103
69Congenital malformation of the right heart (HP:0011723)2.09610103
70Molar tooth sign on MRI (HP:0002419)2.08543361
71Abnormality of midbrain morphology (HP:0002418)2.08543361
72Chronic bronchitis (HP:0004469)2.08000490
73Agitation (HP:0000713)2.07464207
74Focal dystonia (HP:0004373)2.05440021
75Congenital primary aphakia (HP:0007707)2.02584396
76Syncope (HP:0001279)2.01409379
77Akinesia (HP:0002304)2.01246617
78Excessive salivation (HP:0003781)2.00731093
79Mutism (HP:0002300)1.95648574
80Bradykinesia (HP:0002067)1.93468455
81Abnormality of ocular smooth pursuit (HP:0000617)1.93394447
82Amyotrophic lateral sclerosis (HP:0007354)1.93027691
83Muscular hypotonia of the trunk (HP:0008936)1.92548770
84Papilledema (HP:0001085)1.90053290
85Prolonged QT interval (HP:0001657)1.89569383
86Poor suck (HP:0002033)1.88610396
87Aqueductal stenosis (HP:0002410)1.87711390
88Fetal akinesia sequence (HP:0001989)1.85154873
89Dysmetric saccades (HP:0000641)1.83035353
90Dysmetria (HP:0001310)1.82288073
91Nephrogenic diabetes insipidus (HP:0009806)1.81352550
92Abnormal drinking behavior (HP:0030082)1.81204899
93Polydipsia (HP:0001959)1.81204899
94Lower limb muscle weakness (HP:0007340)1.81140885
95Generalized myoclonic seizures (HP:0002123)1.80675829
96Spastic tetraplegia (HP:0002510)1.79521888
97Inability to walk (HP:0002540)1.78942575
98Large for gestational age (HP:0001520)1.78535699
99Abnormal EKG (HP:0003115)1.77768366
100Morphological abnormality of the pyramidal tract (HP:0002062)1.77296341

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK4.99144671
2FRK4.00798750
3MARK13.76652736
4NTRK33.42793946
5EPHA43.38959373
6DAPK23.20575221
7CDK192.55983579
8MAP3K42.14474272
9PINK12.05558854
10MAPK132.00360522
11PHKG21.90548205
12PHKG11.90548205
13UHMK11.88568205
14NTRK21.77908770
15PAK61.65901309
16OXSR11.65419193
17SIK21.64082638
18PAK31.59955175
19MAP3K91.54598024
20CAMKK21.49679389
21CAMKK11.49359137
22MAP2K71.38719970
23MINK11.33259271
24PRKCG1.32659080
25CDK51.31872976
26PLK21.28689034
27WNK31.26525224
28FGFR21.26208582
29MAPK151.25560591
30STK38L1.18113083
31PRKD31.14726115
32STK381.13319330
33PNCK1.04343476
34MAP4K21.03345197
35MST41.01927958
36MAP2K41.00091019
37MAP3K120.98494143
38DYRK1A0.96123193
39STK110.95116848
40CAMK10.94158504
41EPHA30.91008463
42DAPK10.90644570
43NTRK10.90641768
44TNK20.89615341
45CAMK2A0.88971300
46TNIK0.88103755
47SGK4940.87699065
48SGK2230.87699065
49CSNK1G20.84942111
50FER0.84781414
51PRKCZ0.84632599
52MARK20.84136677
53CAMK1G0.83828991
54SGK20.82083980
55GRK50.81545803
56WNK10.80763481
57MAP3K20.78361390
58ACVR1B0.77003842
59PTK2B0.76723930
60SGK10.76692623
61TESK10.76677849
62STK390.74684509
63PRKCE0.72848272
64CAMK2B0.71736068
65PRKCI0.71165363
66NEK60.69533380
67PRKCH0.68453112
68WNK40.67614666
69KSR10.66273974
70BMPR20.65403051
71STK240.63332088
72ADRBK20.61891756
73GRK10.58580623
74DYRK20.57113399
75SGK30.55895316
76CAMK1D0.55852187
77CAMK40.55393102
78MAP2K60.55326703
79TSSK60.55014895
80CCNB10.53479875
81CSNK1G10.52735365
82ERBB30.50274383
83PKN10.49940471
84LIMK10.49141486
85INSRR0.49132877
86CSNK1G30.48491920
87CAMK2D0.48261582
88CDK180.47842304
89CDK150.47632790
90ERBB20.45373635
91CDK140.45218744
92PDK10.43861692
93PRKG10.43785618
94MAPK120.40854617
95CAMK2G0.40279527
96CDK11A0.40239655
97RPS6KA30.39506355
98KSR20.37931289
99EPHB10.37476391
100CSNK1A1L0.36551313

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.77726478
2Synaptic vesicle cycle_Homo sapiens_hsa047213.21684271
3Insulin secretion_Homo sapiens_hsa049112.85299645
4Circadian entrainment_Homo sapiens_hsa047132.70728357
5GABAergic synapse_Homo sapiens_hsa047272.60901499
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.55087928
7Glutamatergic synapse_Homo sapiens_hsa047242.46723652
8Morphine addiction_Homo sapiens_hsa050322.41629599
9Amphetamine addiction_Homo sapiens_hsa050312.39977204
10Dopaminergic synapse_Homo sapiens_hsa047282.23416460
11Long-term potentiation_Homo sapiens_hsa047202.06430248
12Cocaine addiction_Homo sapiens_hsa050301.99784614
13Maturity onset diabetes of the young_Homo sapiens_hsa049501.83754708
14Long-term depression_Homo sapiens_hsa047301.72864839
15Salivary secretion_Homo sapiens_hsa049701.71157271
16Collecting duct acid secretion_Homo sapiens_hsa049661.69684349
17Gastric acid secretion_Homo sapiens_hsa049711.68082910
18Aldosterone synthesis and secretion_Homo sapiens_hsa049251.61260161
19Taste transduction_Homo sapiens_hsa047421.58966349
20Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.53918377
21Cholinergic synapse_Homo sapiens_hsa047251.53708240
22Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.53505305
23Phototransduction_Homo sapiens_hsa047441.48993166
24Renin secretion_Homo sapiens_hsa049241.43713708
25Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.40202690
26Serotonergic synapse_Homo sapiens_hsa047261.38892535
27cAMP signaling pathway_Homo sapiens_hsa040241.38621282
28Oxytocin signaling pathway_Homo sapiens_hsa049211.37656449
29Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.36767910
30Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.36585387
31Circadian rhythm_Homo sapiens_hsa047101.34046047
32Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.30461846
33Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.28827599
34Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.27108460
35Calcium signaling pathway_Homo sapiens_hsa040201.24119219
36Butanoate metabolism_Homo sapiens_hsa006501.22372963
37Olfactory transduction_Homo sapiens_hsa047401.20449566
38Type II diabetes mellitus_Homo sapiens_hsa049301.18109225
39Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.11781523
40Phosphatidylinositol signaling system_Homo sapiens_hsa040701.02830199
41beta-Alanine metabolism_Homo sapiens_hsa004101.01747346
42Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.01712825
43Estrogen signaling pathway_Homo sapiens_hsa049151.00414449
44Dorso-ventral axis formation_Homo sapiens_hsa043200.97484383
45Gap junction_Homo sapiens_hsa045400.94951706
46Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.94859067
47Pancreatic secretion_Homo sapiens_hsa049720.93962942
48GnRH signaling pathway_Homo sapiens_hsa049120.92961734
49Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.92027199
50cGMP-PKG signaling pathway_Homo sapiens_hsa040220.89940673
51Vibrio cholerae infection_Homo sapiens_hsa051100.88342829
52Thyroid hormone synthesis_Homo sapiens_hsa049180.87662040
53Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.87122677
54Histidine metabolism_Homo sapiens_hsa003400.85263434
55Cardiac muscle contraction_Homo sapiens_hsa042600.78859887
56Vitamin B6 metabolism_Homo sapiens_hsa007500.78397688
57ABC transporters_Homo sapiens_hsa020100.77339738
58Axon guidance_Homo sapiens_hsa043600.73666183
59Glucagon signaling pathway_Homo sapiens_hsa049220.72479759
60Carbohydrate digestion and absorption_Homo sapiens_hsa049730.68350568
61Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.67287864
62Regulation of autophagy_Homo sapiens_hsa041400.65907235
63Oocyte meiosis_Homo sapiens_hsa041140.62615713
64Bile secretion_Homo sapiens_hsa049760.62238159
65Sphingolipid signaling pathway_Homo sapiens_hsa040710.61576464
66Melanogenesis_Homo sapiens_hsa049160.61236116
67Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.60932479
68Inositol phosphate metabolism_Homo sapiens_hsa005620.60570837
69Ovarian steroidogenesis_Homo sapiens_hsa049130.60208758
70Folate biosynthesis_Homo sapiens_hsa007900.59350473
71Vascular smooth muscle contraction_Homo sapiens_hsa042700.59229522
72Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.54239427
73MAPK signaling pathway_Homo sapiens_hsa040100.51988361
74Ras signaling pathway_Homo sapiens_hsa040140.49735422
75Sphingolipid metabolism_Homo sapiens_hsa006000.49151245
76SNARE interactions in vesicular transport_Homo sapiens_hsa041300.48713472
77Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.48325839
78Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.48009033
79Rap1 signaling pathway_Homo sapiens_hsa040150.47454708
80Nitrogen metabolism_Homo sapiens_hsa009100.46948421
81Mineral absorption_Homo sapiens_hsa049780.45802311
82Tight junction_Homo sapiens_hsa045300.45652754
83Ether lipid metabolism_Homo sapiens_hsa005650.44372903
84Glycerophospholipid metabolism_Homo sapiens_hsa005640.44089504
85Phospholipase D signaling pathway_Homo sapiens_hsa040720.41939026
86Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.41389642
87ErbB signaling pathway_Homo sapiens_hsa040120.39808705
88Protein export_Homo sapiens_hsa030600.38431059
89Glycosaminoglycan degradation_Homo sapiens_hsa005310.37852076
90Tryptophan metabolism_Homo sapiens_hsa003800.35018219
91Glioma_Homo sapiens_hsa052140.33385492
92Propanoate metabolism_Homo sapiens_hsa006400.30310404
93Fatty acid biosynthesis_Homo sapiens_hsa000610.30245857
94mTOR signaling pathway_Homo sapiens_hsa041500.28883102
95Choline metabolism in cancer_Homo sapiens_hsa052310.28769712
96Linoleic acid metabolism_Homo sapiens_hsa005910.25280165
97Alzheimers disease_Homo sapiens_hsa050100.23676797
98Dilated cardiomyopathy_Homo sapiens_hsa054140.23233367
99Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.22354514
100Alcoholism_Homo sapiens_hsa050340.21221239

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