NALCN

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 voltage-independent, nonselective cation channel which belongs to a family of voltage-gated sodium and calcium channels that regulates the resting membrane potential and excitability of neurons. This family is expressed throughout the nervous system and conducts a persistent sodium leak current that contributes to tonic neuronal excitability. The encoded protein forms a channelosome complex that includes G-protein-coupled receptors, UNC-79, UNC-80, NCA localization factor-1, and src family tyrosine kinases. Naturally occurring mutations in this gene are associated with infantile neuroaxonal dystrophy, infantile hypotonia with psychomotor retardation and characteristic facies (IHPRF) syndrome, and congenital contractures of the limbs and face with hypotonia and developmental delay (CLIFAHDD) syndrome. A knockout of the orthologous gene in mice results in paralysis with a severely disrupted respiratory rhythm, and lethality within 24 hours after birth. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)6.18555574
2vocalization behavior (GO:0071625)5.28142571
3synaptic vesicle maturation (GO:0016188)5.24234048
4positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.23646849
5positive regulation of calcium ion-dependent exocytosis (GO:0045956)5.19004545
6synaptic vesicle exocytosis (GO:0016079)5.09363126
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.07025438
8locomotory exploration behavior (GO:0035641)5.06651720
9ionotropic glutamate receptor signaling pathway (GO:0035235)5.05945101
10glutamate secretion (GO:0014047)4.93657166
11neuron cell-cell adhesion (GO:0007158)4.82714702
12regulation of synaptic vesicle exocytosis (GO:2000300)4.74170135
13regulation of glutamate receptor signaling pathway (GO:1900449)4.70891096
14protein localization to synapse (GO:0035418)4.63925933
15neuronal action potential propagation (GO:0019227)4.63737389
16neurotransmitter secretion (GO:0007269)4.47040515
17glutamate receptor signaling pathway (GO:0007215)4.45388789
18synaptic transmission, glutamatergic (GO:0035249)4.43763738
19regulation of long-term neuronal synaptic plasticity (GO:0048169)4.31645708
20regulation of synaptic vesicle transport (GO:1902803)4.28256727
21neuron-neuron synaptic transmission (GO:0007270)4.24876921
22regulation of neuronal synaptic plasticity (GO:0048168)4.19489192
23synaptic vesicle docking involved in exocytosis (GO:0016081)4.14445224
24regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.12554078
25gamma-aminobutyric acid transport (GO:0015812)4.12064341
26exploration behavior (GO:0035640)4.09733607
27axon ensheathment in central nervous system (GO:0032291)3.93895360
28central nervous system myelination (GO:0022010)3.93895360
29neuron recognition (GO:0008038)3.89697928
30regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.87595289
31neurotransmitter-gated ion channel clustering (GO:0072578)3.86556039
32gamma-aminobutyric acid signaling pathway (GO:0007214)3.85977665
33negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.83584247
34regulation of excitatory postsynaptic membrane potential (GO:0060079)3.81270662
35long-term memory (GO:0007616)3.80480405
36regulation of synapse structural plasticity (GO:0051823)3.78602370
37neurotransmitter transport (GO:0006836)3.77902767
38layer formation in cerebral cortex (GO:0021819)3.77353181
39dendritic spine morphogenesis (GO:0060997)3.73604929
40membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.73535910
41transmission of nerve impulse (GO:0019226)3.73271416
42cellular potassium ion homeostasis (GO:0030007)3.70497387
43synaptic vesicle endocytosis (GO:0048488)3.68342888
44regulation of postsynaptic membrane potential (GO:0060078)3.65877302
45proline transport (GO:0015824)3.64067443
46regulation of synaptic transmission, glutamatergic (GO:0051966)3.61355353
47positive regulation of membrane potential (GO:0045838)3.57650740
48L-amino acid import (GO:0043092)3.56245894
49negative regulation of cytosolic calcium ion concentration (GO:0051481)3.55136600
50negative regulation of synaptic transmission, GABAergic (GO:0032229)3.51218377
51cerebellar Purkinje cell differentiation (GO:0021702)3.50425734
52regulation of neurotransmitter levels (GO:0001505)3.46357191
53positive regulation of synapse maturation (GO:0090129)3.43840049
54presynaptic membrane assembly (GO:0097105)3.41822575
55activation of protein kinase A activity (GO:0034199)3.38958460
56regulation of synaptic plasticity (GO:0048167)3.38089726
57long-term synaptic potentiation (GO:0060291)3.36243507
58G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.35687278
59positive regulation of synaptic transmission, GABAergic (GO:0032230)3.35414562
60neuromuscular process controlling posture (GO:0050884)3.32939912
61regulation of neurotransmitter secretion (GO:0046928)3.32929238
62positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.32865089
63postsynaptic membrane organization (GO:0001941)3.31187006
64regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.31125659
65behavioral fear response (GO:0001662)3.29992569
66behavioral defense response (GO:0002209)3.29992569
67axonal fasciculation (GO:0007413)3.29446108
68regulation of dendritic spine morphogenesis (GO:0061001)3.28892719
69regulation of vesicle fusion (GO:0031338)3.26281613
70positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.26143764
71membrane hyperpolarization (GO:0060081)3.23706703
72presynaptic membrane organization (GO:0097090)3.23124373
73neuromuscular process controlling balance (GO:0050885)3.22227790
74regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.20456223
75response to histamine (GO:0034776)3.18715035
76fear response (GO:0042596)3.17810420
77potassium ion import (GO:0010107)3.17074947
78* membrane depolarization (GO:0051899)3.14085203
79mating behavior (GO:0007617)3.14007343
80synapse assembly (GO:0007416)3.11691274
81serotonin metabolic process (GO:0042428)3.11253847
82potassium ion homeostasis (GO:0055075)3.11238888
83regulation of neurotransmitter transport (GO:0051588)3.10854556
84prepulse inhibition (GO:0060134)3.08933519
85auditory behavior (GO:0031223)3.08234428
86sodium ion export (GO:0071436)3.06736959
87response to auditory stimulus (GO:0010996)3.05197967
88synaptic transmission (GO:0007268)3.04424123
89cerebellar granule cell differentiation (GO:0021707)3.04369767
90amino acid import (GO:0043090)3.03798127
91glycine transport (GO:0015816)3.03022169
92* membrane depolarization during action potential (GO:0086010)3.02035043
93learning (GO:0007612)3.01253783
94neurotransmitter uptake (GO:0001504)3.00771806
95vesicle transport along microtubule (GO:0047496)3.00426788
96neuronal ion channel clustering (GO:0045161)3.00336437
97cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.00055446
98dendrite morphogenesis (GO:0048813)2.99827691
99adult walking behavior (GO:0007628)2.99228071
100righting reflex (GO:0060013)2.98067149
101C4-dicarboxylate transport (GO:0015740)2.98055823
102regulation of synaptic transmission (GO:0050804)2.96822647
103behavioral response to cocaine (GO:0048148)2.96757197
104regulation of synaptic transmission, GABAergic (GO:0032228)2.95952475
105positive regulation of synaptic transmission (GO:0050806)2.92914461
106primary amino compound metabolic process (GO:1901160)2.92889205
107positive regulation of neurotransmitter transport (GO:0051590)2.92587413
108neuromuscular synaptic transmission (GO:0007274)2.89914355
109striatum development (GO:0021756)2.89384806
110regulation of respiratory system process (GO:0044065)2.89254432
111detection of calcium ion (GO:0005513)2.88730200
112startle response (GO:0001964)2.88115407
113positive regulation of dendritic spine development (GO:0060999)2.87753198
114innervation (GO:0060384)2.87538376
115synapse organization (GO:0050808)2.86806169
116positive regulation of neurotransmitter secretion (GO:0001956)2.86579729
117suckling behavior (GO:0001967)2.86305855
118mechanosensory behavior (GO:0007638)2.85462848
119regulation of synapse maturation (GO:0090128)2.83381193
120phosphorelay signal transduction system (GO:0000160)2.83181324
121glycosphingolipid biosynthetic process (GO:0006688)2.80877210
122cellular sodium ion homeostasis (GO:0006883)2.80496427
123acidic amino acid transport (GO:0015800)2.77689577
124regulation of dendritic spine development (GO:0060998)2.77401261
125regulation of voltage-gated calcium channel activity (GO:1901385)2.74439097
126regulation of neurotransmitter uptake (GO:0051580)2.73492950
127neuronal action potential (GO:0019228)2.73424402

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.80336635
2GBX2_23144817_ChIP-Seq_PC3_Human3.82683999
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.08123244
4SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.99843549
5JARID2_20064375_ChIP-Seq_MESCs_Mouse2.97311480
6REST_21632747_ChIP-Seq_MESCs_Mouse2.65715209
7EZH2_18974828_ChIP-Seq_MESCs_Mouse2.59447933
8RNF2_18974828_ChIP-Seq_MESCs_Mouse2.59447933
9SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.55366390
10JARID2_20075857_ChIP-Seq_MESCs_Mouse2.52287576
11SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.49474731
12MTF2_20144788_ChIP-Seq_MESCs_Mouse2.46560064
13* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.45555100
14SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.42265714
15EZH2_27304074_Chip-Seq_ESCs_Mouse2.41118285
16RARB_27405468_Chip-Seq_BRAIN_Mouse2.37496030
17DROSHA_22980978_ChIP-Seq_HELA_Human2.37131006
18EED_16625203_ChIP-ChIP_MESCs_Mouse2.27737658
19EZH2_27294783_Chip-Seq_ESCs_Mouse2.19634096
20REST_18959480_ChIP-ChIP_MESCs_Mouse2.16130389
21SUZ12_27294783_Chip-Seq_ESCs_Mouse2.14972907
22TAF15_26573619_Chip-Seq_HEK293_Human2.11994419
23CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.09167367
24RNF2_27304074_Chip-Seq_ESCs_Mouse2.05355425
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.03240089
26CTBP2_25329375_ChIP-Seq_LNCAP_Human1.94182655
27IKZF1_21737484_ChIP-ChIP_HCT116_Human1.93857905
28AR_21572438_ChIP-Seq_LNCaP_Human1.88377661
29* ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.82732357
30CTBP1_25329375_ChIP-Seq_LNCAP_Human1.81854522
31NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.80918170
32SMAD4_21799915_ChIP-Seq_A2780_Human1.77225225
33* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.70294081
34* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.67732547
35MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.63994058
36PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.55571580
37ZNF274_21170338_ChIP-Seq_K562_Hela1.52049833
38EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.50972270
39P300_19829295_ChIP-Seq_ESCs_Human1.50880711
40ERG_21242973_ChIP-ChIP_JURKAT_Human1.47857800
41GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.39512759
42SMAD3_21741376_ChIP-Seq_EPCs_Human1.38847035
43IGF1R_20145208_ChIP-Seq_DFB_Human1.38286755
44SOX2_21211035_ChIP-Seq_LN229_Gbm1.37635043
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36258865
46MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.35969229
47OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.35100736
48PIAS1_25552417_ChIP-Seq_VCAP_Human1.34583560
49STAT3_23295773_ChIP-Seq_U87_Human1.33964401
50CBX2_27304074_Chip-Seq_ESCs_Mouse1.33615019
51BMI1_23680149_ChIP-Seq_NPCS_Mouse1.33309450
52* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.33183746
53AR_25329375_ChIP-Seq_VCAP_Human1.31569457
54TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.31347023
55TOP2B_26459242_ChIP-Seq_MCF-7_Human1.29901628
56PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.29536432
57FLI1_27457419_Chip-Seq_LIVER_Mouse1.29161148
58* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.27524376
59SMAD_19615063_ChIP-ChIP_OVARY_Human1.26112112
60* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.26091232
61RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.25612234
62FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.24560949
63RING1B_27294783_Chip-Seq_ESCs_Mouse1.21882487
64AR_19668381_ChIP-Seq_PC3_Human1.19267887
65* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.17954279
66FUS_26573619_Chip-Seq_HEK293_Human1.17458989
67CDX2_19796622_ChIP-Seq_MESCs_Mouse1.15495035
68* TCF4_23295773_ChIP-Seq_U87_Human1.15223377
69AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.15107162
70ARNT_22903824_ChIP-Seq_MCF-7_Human1.15073314
71IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.14608280
72CBP_20019798_ChIP-Seq_JUKART_Human1.14608280
73RNF2_27304074_Chip-Seq_NSC_Mouse1.14154789
74RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.13836684
75* PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.13231997
76PCGF2_27294783_Chip-Seq_ESCs_Mouse1.12633618
77ZNF217_24962896_ChIP-Seq_MCF-7_Human1.12400673
78LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.12216989
79AHR_22903824_ChIP-Seq_MCF-7_Human1.09982309
80WT1_25993318_ChIP-Seq_PODOCYTE_Human1.08726836
81KLF5_20875108_ChIP-Seq_MESCs_Mouse1.07936276
82MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.06334902
83P53_22127205_ChIP-Seq_FIBROBLAST_Human1.05444740
84VDR_22108803_ChIP-Seq_LS180_Human1.05312221
85MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.04768210
86BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.04493169
87YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03834987
88ER_23166858_ChIP-Seq_MCF-7_Human1.03816893
89* RUNX2_22187159_ChIP-Seq_PCA_Human1.03621708
90RING1B_27294783_Chip-Seq_NPCs_Mouse1.03394487
91P53_22387025_ChIP-Seq_ESCs_Mouse1.03328913
92TCF4_22108803_ChIP-Seq_LS180_Human1.02109026
93UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.01980894
94EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.01866370
95* TAL1_26923725_Chip-Seq_HPCs_Mouse1.00772791
96PRDM14_20953172_ChIP-Seq_ESCs_Human1.00053585
97FLI1_21867929_ChIP-Seq_TH2_Mouse0.99446317
98E2F1_18555785_Chip-Seq_ESCs_Mouse0.99252927
99CTNNB1_20460455_ChIP-Seq_HCT116_Human0.98402486
100DNAJC2_21179169_ChIP-ChIP_NT2_Human0.98305765
101NR3C1_21868756_ChIP-Seq_MCF10A_Human0.98124063
102TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.98019889
103SMAD3_21741376_ChIP-Seq_ESCs_Human0.97533962
104JUN_21703547_ChIP-Seq_K562_Human0.97077909
105NANOG_18555785_Chip-Seq_ESCs_Mouse0.95843682
106TP53_16413492_ChIP-PET_HCT116_Human0.93741996
107CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.93192486
108TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.91911884
109TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.90488075
110CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89908075
111SMAD4_21741376_ChIP-Seq_HESCs_Human0.89111535
112TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.89109111
113TP53_18474530_ChIP-ChIP_U2OS_Human0.88605803
114VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.87991604
115TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87465100
116POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.87465100
117BCAT_22108803_ChIP-Seq_LS180_Human0.86707058

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.06935956
2MP0003880_abnormal_central_pattern4.94592558
3* MP0003635_abnormal_synaptic_transmissio4.05165620
4MP0009745_abnormal_behavioral_response3.46858376
5MP0004270_analgesia3.43237972
6MP0002064_seizures3.26423503
7MP0002063_abnormal_learning/memory/cond3.26390944
8MP0009046_muscle_twitch3.19604256
9MP0001968_abnormal_touch/_nociception3.05765303
10MP0002822_catalepsy2.90559200
11MP0002572_abnormal_emotion/affect_behav2.87532006
12* MP0002272_abnormal_nervous_system2.71111774
13MP0005423_abnormal_somatic_nervous2.70751400
14MP0002734_abnormal_mechanical_nocicepti2.58961184
15MP0001486_abnormal_startle_reflex2.53987478
16MP0001501_abnormal_sleep_pattern2.53915668
17MP0000569_abnormal_digit_pigmentation2.44034566
18MP0002736_abnormal_nociception_after2.41159949
19MP0002735_abnormal_chemical_nociception2.39864821
20MP0001440_abnormal_grooming_behavior2.20533452
21MP0002067_abnormal_sensory_capabilities2.10504252
22MP0002733_abnormal_thermal_nociception2.02645219
23MP0001970_abnormal_pain_threshold1.98470920
24MP0009780_abnormal_chondrocyte_physiolo1.93941157
25MP0005386_behavior/neurological_phenoty1.86599553
26MP0004924_abnormal_behavior1.86599553
27MP0006276_abnormal_autonomic_nervous1.83192272
28MP0002184_abnormal_innervation1.82353130
29MP0008569_lethality_at_weaning1.81486295
30MP0003329_amyloid_beta_deposits1.80973069
31MP0002557_abnormal_social/conspecific_i1.78902420
32MP0005646_abnormal_pituitary_gland1.77306933
33MP0002909_abnormal_adrenal_gland1.75882988
34MP0000778_abnormal_nervous_system1.72122459
35MP0004811_abnormal_neuron_physiology1.62295968
36MP0000955_abnormal_spinal_cord1.60277948
37MP0001529_abnormal_vocalization1.55361086
38MP0003879_abnormal_hair_cell1.54219481
39MP0001984_abnormal_olfaction1.52380779
40MP0004885_abnormal_endolymph1.50737016
41MP0005645_abnormal_hypothalamus_physiol1.47235794
42MP0004858_abnormal_nervous_system1.44917627
43MP0002066_abnormal_motor_capabilities/c1.44028727
44MP0002882_abnormal_neuron_morphology1.42402725
45MP0004142_abnormal_muscle_tone1.42351545
46MP0002102_abnormal_ear_morphology1.41882038
47MP0003787_abnormal_imprinting1.38981712
48MP0003122_maternal_imprinting1.38144664
49MP0001905_abnormal_dopamine_level1.32407135
50MP0001986_abnormal_taste_sensitivity1.30598933
51MP0003633_abnormal_nervous_system1.30273067
52MP0001188_hyperpigmentation1.24159313
53MP0001502_abnormal_circadian_rhythm1.23998937
54MP0000013_abnormal_adipose_tissue1.21477816
55MP0003631_nervous_system_phenotype1.11514792
56MP0010386_abnormal_urinary_bladder1.11380467
57MP0002653_abnormal_ependyma_morphology1.10774915
58MP0004145_abnormal_muscle_electrophysio1.10099643
59MP0002837_dystrophic_cardiac_calcinosis1.10064179
60MP0005551_abnormal_eye_electrophysiolog1.09566244
61MP0002229_neurodegeneration1.08116227
62MP0002152_abnormal_brain_morphology1.06307971
63MP0004742_abnormal_vestibular_system1.04605841
64MP0008872_abnormal_physiological_respon0.96137897
65MP0003634_abnormal_glial_cell0.95834108
66MP0000920_abnormal_myelination0.93801871
67MP0005167_abnormal_blood-brain_barrier0.93723394
68MP0002069_abnormal_eating/drinking_beha0.93373744
69MP0001963_abnormal_hearing_physiology0.89665587
70MP0004085_abnormal_heartbeat0.89029783
71MP0000751_myopathy0.88622099
72MP0001177_atelectasis0.87370151
73MP0000631_abnormal_neuroendocrine_gland0.87139977
74MP0003121_genomic_imprinting0.87117162
75MP0004147_increased_porphyrin_level0.86264908
76MP0003690_abnormal_glial_cell0.85949539
77MP0005535_abnormal_body_temperature0.85778954
78MP0004133_heterotaxia0.85273745
79MP0003632_abnormal_nervous_system0.84953274
80MP0003283_abnormal_digestive_organ0.82465209
81MP0005409_darkened_coat_color0.81166753
82MP0002752_abnormal_somatic_nervous0.80801008
83MP0002638_abnormal_pupillary_reflex0.80662775
84MP0000604_amyloidosis0.76769750
85* MP0008874_decreased_physiological_sensi0.76597542
86MP0001485_abnormal_pinna_reflex0.76071500
87MP0006072_abnormal_retinal_apoptosis0.75386357
88MP0002876_abnormal_thyroid_physiology0.73347720
89MP0005394_taste/olfaction_phenotype0.71293202
90MP0005499_abnormal_olfactory_system0.71293202
91MP0001299_abnormal_eye_distance/0.70244551
92MP0002090_abnormal_vision0.69734416
93MP0004043_abnormal_pH_regulation0.68584856
94MP0004215_abnormal_myocardial_fiber0.68208973
95MP0000427_abnormal_hair_cycle0.66415077
96MP0005171_absent_coat_pigmentation0.66386563
97MP0008877_abnormal_DNA_methylation0.65871150
98MP0001664_abnormal_digestion0.62869243
99MP0000383_abnormal_hair_follicle0.61210247
100MP0008961_abnormal_basal_metabolism0.61184458
101MP0003183_abnormal_peptide_metabolism0.59946256
102MP0003137_abnormal_impulse_conducting0.59017112
103MP0005623_abnormal_meninges_morphology0.56546284
104MP0003075_altered_response_to0.55385518
105* MP0001943_abnormal_respiration0.54932235
106MP0004484_altered_response_of0.54783163
107MP0003123_paternal_imprinting0.53865509
108MP0005253_abnormal_eye_physiology0.53809860
109MP0002082_postnatal_lethality0.53638429
110MP0010770_preweaning_lethality0.53638429
111MP0001756_abnormal_urination0.53620687
112MP0000026_abnormal_inner_ear0.53533595
113MP0010769_abnormal_survival0.53510535
114MP0005174_abnormal_tail_pigmentation0.52070295
115MP0005195_abnormal_posterior_eye0.50584465
116MP0005379_endocrine/exocrine_gland_phen0.50362118

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.91019401
2Myokymia (HP:0002411)6.29924542
3Focal seizures (HP:0007359)5.71946086
4Visual hallucinations (HP:0002367)5.22299696
5Atonic seizures (HP:0010819)5.05347705
6Epileptic encephalopathy (HP:0200134)4.83322548
7Febrile seizures (HP:0002373)4.69691123
8Absence seizures (HP:0002121)4.48425661
9Progressive cerebellar ataxia (HP:0002073)4.20669860
10Dialeptic seizures (HP:0011146)4.08882521
11Generalized tonic-clonic seizures (HP:0002069)4.01469511
12Supranuclear gaze palsy (HP:0000605)3.73762238
13Broad-based gait (HP:0002136)3.73589668
14Action tremor (HP:0002345)3.69247193
15Hyperventilation (HP:0002883)3.55863348
16Gaze-evoked nystagmus (HP:0000640)3.27592628
17Truncal ataxia (HP:0002078)3.08131218
18Depression (HP:0000716)3.07958664
19Dysdiadochokinesis (HP:0002075)3.06679050
20Ankle clonus (HP:0011448)3.06117126
21Impaired vibration sensation in the lower limbs (HP:0002166)3.04228374
22Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.03697498
23Dysmetria (HP:0001310)3.01588852
24Urinary bladder sphincter dysfunction (HP:0002839)2.98429199
25Anxiety (HP:0000739)2.98401910
26Pancreatic fibrosis (HP:0100732)2.94085017
27Amblyopia (HP:0000646)2.93784156
28Postural instability (HP:0002172)2.91533123
29Neurofibrillary tangles (HP:0002185)2.86468503
30Chronic hepatic failure (HP:0100626)2.85021058
31Nephronophthisis (HP:0000090)2.84640416
32Drooling (HP:0002307)2.83169602
33Excessive salivation (HP:0003781)2.83169602
34Abnormal eating behavior (HP:0100738)2.80911706
35Scanning speech (HP:0002168)2.79123472
36Progressive inability to walk (HP:0002505)2.77720717
37Abnormal drinking behavior (HP:0030082)2.77251492
38Polydipsia (HP:0001959)2.77251492
39* Poor eye contact (HP:0000817)2.76080613
40True hermaphroditism (HP:0010459)2.74998749
41Pancreatic cysts (HP:0001737)2.74510700
42Cerebral inclusion bodies (HP:0100314)2.73984393
43Abnormality of midbrain morphology (HP:0002418)2.73749116
44Molar tooth sign on MRI (HP:0002419)2.73749116
45Mutism (HP:0002300)2.69983049
46Spastic gait (HP:0002064)2.65745853
47Abnormality of the corticospinal tract (HP:0002492)2.65661296
48Papilledema (HP:0001085)2.65653926
49Tubular atrophy (HP:0000092)2.63282723
50Epileptiform EEG discharges (HP:0011182)2.61814546
51Hemiparesis (HP:0001269)2.61270148
52Absent speech (HP:0001344)2.60615007
53Impaired smooth pursuit (HP:0007772)2.58333271
54Termporal pattern (HP:0011008)2.57585357
55Insidious onset (HP:0003587)2.57585357
56Genetic anticipation (HP:0003743)2.57546248
57* Abnormal social behavior (HP:0012433)2.55968636
58* Impaired social interactions (HP:0000735)2.55968636
59EEG with generalized epileptiform discharges (HP:0011198)2.52539204
60Limb dystonia (HP:0002451)2.51643069
61Diplopia (HP:0000651)2.50363255
62Abnormality of binocular vision (HP:0011514)2.50363255
63Urinary urgency (HP:0000012)2.50216581
64Akinesia (HP:0002304)2.43804417
65Intention tremor (HP:0002080)2.43295370
66Medial flaring of the eyebrow (HP:0010747)2.40550969
67Bradykinesia (HP:0002067)2.39935299
68Occipital encephalocele (HP:0002085)2.35978997
69Hypsarrhythmia (HP:0002521)2.35324704
70Agitation (HP:0000713)2.29222344
71Torticollis (HP:0000473)2.28265295
72Pheochromocytoma (HP:0002666)2.26165278
73Abnormality of the renal medulla (HP:0100957)2.23814353
74Fetal akinesia sequence (HP:0001989)2.23426259
75Abnormality of ocular smooth pursuit (HP:0000617)2.22774842
76Status epilepticus (HP:0002133)2.22483807
77Blue irides (HP:0000635)2.22466307
78Cystic liver disease (HP:0006706)2.22382491
79Hemiplegia (HP:0002301)2.21255718
80Inability to walk (HP:0002540)2.20855044
81Hypoventilation (HP:0002791)2.19528113
82Stereotypic behavior (HP:0000733)2.16919468
83Cerebral hypomyelination (HP:0006808)2.16578062
84Morphological abnormality of the pyramidal tract (HP:0002062)2.15801733
85Lower limb muscle weakness (HP:0007340)2.15280995
86Abnormality of the lower motor neuron (HP:0002366)2.14855428
87Generalized myoclonic seizures (HP:0002123)2.13911073
88Congenital primary aphakia (HP:0007707)2.11456947
89Polyphagia (HP:0002591)2.11428437
90Degeneration of the lateral corticospinal tracts (HP:0002314)2.10350423
91Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.10350423
92Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.10243700
93Focal dystonia (HP:0004373)2.10060389
94Increased circulating renin level (HP:0000848)2.06170448
95Gait ataxia (HP:0002066)2.02162923
96Abnormal ciliary motility (HP:0012262)1.99700113
97Neuronal loss in central nervous system (HP:0002529)1.98501417
98Gait imbalance (HP:0002141)1.97891032
99Type II lissencephaly (HP:0007260)1.97798174
100Protruding tongue (HP:0010808)1.97684618
101Ventricular fibrillation (HP:0001663)1.96384655
102Psychosis (HP:0000709)1.96176541
103Impaired vibratory sensation (HP:0002495)1.94767197
104Spastic tetraparesis (HP:0001285)1.93818299
105Bile duct proliferation (HP:0001408)1.92990378
106Abnormal biliary tract physiology (HP:0012439)1.92990378
107Dysmetric saccades (HP:0000641)1.92648631
108Sleep apnea (HP:0010535)1.91901951
109Abnormality of salivation (HP:0100755)1.91713328
110Neuroendocrine neoplasm (HP:0100634)1.91705345
111Nephrogenic diabetes insipidus (HP:0009806)1.91276873
112Diminished movement (HP:0002374)1.87504558
113Craniofacial dystonia (HP:0012179)1.87285927
114Failure to thrive in infancy (HP:0001531)1.87138042
115Abnormality of the renal cortex (HP:0011035)1.86291404
116Megalencephaly (HP:0001355)1.85648720
117Hypomagnesemia (HP:0002917)1.84861581
118Abnormal EKG (HP:0003115)1.83234207
119Polyuria (HP:0000103)1.82012455
120Resting tremor (HP:0002322)1.81390232
121Rigidity (HP:0002063)1.78879424
122Abnormal respiratory motile cilium physiology (HP:0012261)1.78116162
123Specific learning disability (HP:0001328)1.77996606
124Abnormality of saccadic eye movements (HP:0000570)1.77328397
125Insomnia (HP:0100785)1.77312419
126Abnormality of the labia minora (HP:0012880)1.76925574
127Genital tract atresia (HP:0001827)1.76070554
128Bundle branch block (HP:0011710)1.75314796
129Retinal dysplasia (HP:0007973)1.72229590
130Incomplete penetrance (HP:0003829)1.72147710
131Inappropriate behavior (HP:0000719)1.71726205
132Delusions (HP:0000746)1.71640759
133Generalized hypopigmentation of hair (HP:0011358)1.71352859
134Amyotrophic lateral sclerosis (HP:0007354)1.71307036

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.89644976
2EPHA44.31054246
3MAP3K93.44847578
4MAP3K43.20158439
5MARK12.96423483
6FRK2.95628605
7MAP2K72.65195318
8MINK12.47877191
9CASK2.41064757
10NTRK22.34905240
11NTRK12.14086742
12PRKD31.98043900
13DAPK21.97336352
14PAK61.93817397
15RIPK41.88078843
16MAP2K41.87827028
17PNCK1.84579532
18MAP3K121.77211420
19KSR21.77166976
20CAMKK11.60327595
21TNIK1.57920772
22CDK51.50799860
23GRK51.46706331
24MAPK131.44800171
25PLK21.42517335
26CAMKK21.37952851
27KSR11.32383740
28MAP4K21.32320331
29UHMK11.29122627
30FES1.28332751
31ARAF1.26803477
32SIK21.25382946
33CDK191.23072970
34PRKCG1.22189255
35FGFR21.21906308
36DAPK11.21220135
37WNK41.19208541
38STK381.18987361
39CAMK2A1.13182181
40ADRBK21.12431189
41MAP3K21.11585317
42PRPF4B1.04331301
43SGK4941.03783013
44SGK2231.03783013
45GRK11.03426620
46CAMK2B1.01792764
47PRKCH1.01436826
48OXSR11.00146378
49CSNK1G10.98429749
50MAP3K130.98165918
51BMPR1B0.97296053
52PHKG20.94442691
53PHKG10.94442691
54CSNK1G30.92627344
55CSNK1A1L0.89908134
56STK110.85420385
57TYRO30.85205123
58CAMK10.84818791
59BMPR20.83832615
60PAK30.81690919
61SGK20.81193016
62CDK180.79918246
63CDK150.78949365
64CDK140.78635193
65CSNK1G20.78545989
66STK38L0.77978431
67SGK10.76942567
68RET0.75735537
69LIMK10.73899088
70PINK10.73517292
71DYRK1A0.71553057
72TNK20.69397542
73CAMK2D0.69194920
74LATS20.68664128
75PRKCE0.68576532
76MARK20.68235900
77CDK11A0.67410855
78PTK2B0.66874244
79WNK10.66621990
80MAP2K60.63105835
81CAMK1G0.62063055
82CAMK2G0.60672241
83SGK30.59477172
84NEK60.58674161
85ADRBK10.58445273
86RAF10.58051414
87CDC42BPA0.57926062
88ALK0.57042059
89CAMK40.56590145
90AKT30.55745041
91MUSK0.55206384
92FER0.54993308
93WNK30.54953101
94DYRK20.54877323
95CSNK1D0.54557733
96STK390.53619704
97PRKG10.52304791
98RPS6KA30.51439757
99MAP3K10.51406404
100FGR0.51235112
101MET0.51138474
102PDPK10.50576979
103MAPKAPK50.50296494
104LMTK20.49055867
105PDK10.48559775
106PRKACA0.48503434
107BCR0.48323490
108PRKCA0.47798104
109MAPK100.47219094
110FYN0.45187552
111CSNK1A10.44982073
112NME10.44716397
113SCYL20.44446328
114INSRR0.43232736
115PRKCZ0.43113290
116PKN10.41998221
117TRIM280.40649885
118TAOK10.40442194
119GRK70.40371376
120MAP2K10.38477880
121PRKAA10.38143469
122PRKCB0.37919798
123MAP3K60.37800552
124EPHA30.37201378
125CDK30.36802482
126PRKACB0.33279333
127PRKG20.32483840
128ROCK20.32477682

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.08611114
2Synaptic vesicle cycle_Homo sapiens_hsa047213.29197666
3GABAergic synapse_Homo sapiens_hsa047272.93940508
4Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.83661543
5Circadian entrainment_Homo sapiens_hsa047132.69816753
6Glutamatergic synapse_Homo sapiens_hsa047242.67659407
7Long-term potentiation_Homo sapiens_hsa047202.67564467
8Morphine addiction_Homo sapiens_hsa050322.64280226
9Olfactory transduction_Homo sapiens_hsa047402.62862116
10Amphetamine addiction_Homo sapiens_hsa050312.53146708
11Dopaminergic synapse_Homo sapiens_hsa047282.19171499
12Insulin secretion_Homo sapiens_hsa049112.11813928
13Salivary secretion_Homo sapiens_hsa049702.11085988
14Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.10191290
15Taste transduction_Homo sapiens_hsa047422.04937950
16Cocaine addiction_Homo sapiens_hsa050301.88412611
17Cholinergic synapse_Homo sapiens_hsa047251.87130042
18Gastric acid secretion_Homo sapiens_hsa049711.82675942
19Serotonergic synapse_Homo sapiens_hsa047261.81680546
20Long-term depression_Homo sapiens_hsa047301.76518744
21Aldosterone synthesis and secretion_Homo sapiens_hsa049251.75564232
22Renin secretion_Homo sapiens_hsa049241.74840700
23Collecting duct acid secretion_Homo sapiens_hsa049661.72637591
24Calcium signaling pathway_Homo sapiens_hsa040201.57487848
25Oxytocin signaling pathway_Homo sapiens_hsa049211.55207854
26Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.54625322
27Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.43540136
28GnRH signaling pathway_Homo sapiens_hsa049121.35911444
29Vitamin B6 metabolism_Homo sapiens_hsa007501.34460080
30cAMP signaling pathway_Homo sapiens_hsa040241.26453841
31Vibrio cholerae infection_Homo sapiens_hsa051101.25867165
32Gap junction_Homo sapiens_hsa045401.25737009
33Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.25320216
34Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.25215656
35Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.24909320
36Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.19653085
37Type II diabetes mellitus_Homo sapiens_hsa049301.17234743
38Phosphatidylinositol signaling system_Homo sapiens_hsa040701.12884681
39Estrogen signaling pathway_Homo sapiens_hsa049151.12214013
40Axon guidance_Homo sapiens_hsa043601.08401504
41Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.08153591
42Cardiac muscle contraction_Homo sapiens_hsa042601.06779405
43Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.05647180
44cGMP-PKG signaling pathway_Homo sapiens_hsa040220.99539873
45Phototransduction_Homo sapiens_hsa047440.98385390
46Vascular smooth muscle contraction_Homo sapiens_hsa042700.95932607
47Melanogenesis_Homo sapiens_hsa049160.93588432
48Pancreatic secretion_Homo sapiens_hsa049720.93416974
49ErbB signaling pathway_Homo sapiens_hsa040120.90133704
50Glioma_Homo sapiens_hsa052140.88502258
51Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.87381666
52Maturity onset diabetes of the young_Homo sapiens_hsa049500.86124162
53Ether lipid metabolism_Homo sapiens_hsa005650.85073224
54Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.80318189
55Dorso-ventral axis formation_Homo sapiens_hsa043200.80222806
56Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.78383608
57Thyroid hormone synthesis_Homo sapiens_hsa049180.78380972
58ABC transporters_Homo sapiens_hsa020100.77387368
59Type I diabetes mellitus_Homo sapiens_hsa049400.76051575
60Oocyte meiosis_Homo sapiens_hsa041140.75892344
61Phospholipase D signaling pathway_Homo sapiens_hsa040720.74985053
62Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.74004072
63Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.71932650
64Regulation of autophagy_Homo sapiens_hsa041400.70230894
65Dilated cardiomyopathy_Homo sapiens_hsa054140.69537040
66Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.68967001
67beta-Alanine metabolism_Homo sapiens_hsa004100.68468503
68MAPK signaling pathway_Homo sapiens_hsa040100.67152297
69Histidine metabolism_Homo sapiens_hsa003400.63523719
70Choline metabolism in cancer_Homo sapiens_hsa052310.62233232
71Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.61403760
72Alzheimers disease_Homo sapiens_hsa050100.60521144
73Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.60506015
74Mineral absorption_Homo sapiens_hsa049780.55957570
75Inositol phosphate metabolism_Homo sapiens_hsa005620.55620180
76Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.55397365
77Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.55196663
78Carbohydrate digestion and absorption_Homo sapiens_hsa049730.54687977
79Alcoholism_Homo sapiens_hsa050340.54476423
80Ras signaling pathway_Homo sapiens_hsa040140.53927940
81Propanoate metabolism_Homo sapiens_hsa006400.52723414
82Glucagon signaling pathway_Homo sapiens_hsa049220.51612451
83Oxidative phosphorylation_Homo sapiens_hsa001900.51047750
84alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.48637403
85Linoleic acid metabolism_Homo sapiens_hsa005910.47532697
86Neurotrophin signaling pathway_Homo sapiens_hsa047220.47179987
87Nitrogen metabolism_Homo sapiens_hsa009100.47163768
88SNARE interactions in vesicular transport_Homo sapiens_hsa041300.47038198
89Ovarian steroidogenesis_Homo sapiens_hsa049130.46872943
90Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.46607661
91Rap1 signaling pathway_Homo sapiens_hsa040150.45812928
92Circadian rhythm_Homo sapiens_hsa047100.45788413
93Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.44915449
94Fatty acid biosynthesis_Homo sapiens_hsa000610.44856935
95Bile secretion_Homo sapiens_hsa049760.44637814
96Prion diseases_Homo sapiens_hsa050200.43989079
97Sphingolipid signaling pathway_Homo sapiens_hsa040710.41013728
98Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.39282236
99Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.38566102
100Folate biosynthesis_Homo sapiens_hsa007900.38305909
101Sphingolipid metabolism_Homo sapiens_hsa006000.38223600
102Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.38187125
103Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.37612063
104Tight junction_Homo sapiens_hsa045300.37290369
105VEGF signaling pathway_Homo sapiens_hsa043700.37096757
106Huntingtons disease_Homo sapiens_hsa050160.36623180
107Hippo signaling pathway_Homo sapiens_hsa043900.35613088
108Thyroid hormone signaling pathway_Homo sapiens_hsa049190.35509934
109Parkinsons disease_Homo sapiens_hsa050120.35311557
110Wnt signaling pathway_Homo sapiens_hsa043100.35231153
111Arginine and proline metabolism_Homo sapiens_hsa003300.34843922
112Endocytosis_Homo sapiens_hsa041440.34842409
113Tryptophan metabolism_Homo sapiens_hsa003800.34703995
114Renal cell carcinoma_Homo sapiens_hsa052110.32198640
115Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.31592220
116Glycerophospholipid metabolism_Homo sapiens_hsa005640.31153608
117mTOR signaling pathway_Homo sapiens_hsa041500.30662611
118Longevity regulating pathway - mammal_Homo sapiens_hsa042110.30591878
119African trypanosomiasis_Homo sapiens_hsa051430.30388212
120Butanoate metabolism_Homo sapiens_hsa006500.29033405
121Rheumatoid arthritis_Homo sapiens_hsa053230.28405445
122Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.27439406
123Insulin signaling pathway_Homo sapiens_hsa049100.27320868
124Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.26111101

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