CSMD1

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: No gene information available for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.89099875
2positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.70607319
3vocalization behavior (GO:0071625)5.67293529
4regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.44953474
5ionotropic glutamate receptor signaling pathway (GO:0035235)5.34639384
6locomotory exploration behavior (GO:0035641)5.29830917
7neuron cell-cell adhesion (GO:0007158)5.25032033
8regulation of glutamate receptor signaling pathway (GO:1900449)5.03246181
9synaptic vesicle exocytosis (GO:0016079)4.92614895
10protein localization to synapse (GO:0035418)4.89010797
11glutamate receptor signaling pathway (GO:0007215)4.83303055
12regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.78226437
13glutamate secretion (GO:0014047)4.77598561
14synaptic vesicle maturation (GO:0016188)4.75334764
15synaptic transmission, glutamatergic (GO:0035249)4.74495180
16synaptic vesicle docking involved in exocytosis (GO:0016081)4.61714509
17neuronal action potential propagation (GO:0019227)4.53248428
18positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.52051378
19neurotransmitter-gated ion channel clustering (GO:0072578)4.51427862
20neuron-neuron synaptic transmission (GO:0007270)4.46105463
21regulation of synaptic vesicle exocytosis (GO:2000300)4.40311754
22regulation of long-term neuronal synaptic plasticity (GO:0048169)4.38263962
23exploration behavior (GO:0035640)4.33535675
24regulation of neuronal synaptic plasticity (GO:0048168)4.27232542
25presynaptic membrane assembly (GO:0097105)4.25191661
26regulation of inhibitory postsynaptic membrane potential (GO:0060080)4.21839005
27protein polyglutamylation (GO:0018095)4.16123336
28regulation of excitatory postsynaptic membrane potential (GO:0060079)4.11572436
29calcium ion-dependent exocytosis (GO:0017156)4.06531332
30sperm motility (GO:0030317)4.03687470
31regulation of synaptic vesicle transport (GO:1902803)3.99320810
32postsynaptic membrane organization (GO:0001941)3.98953390
33acrosome reaction (GO:0007340)3.98769459
34membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.98134919
35regulation of postsynaptic membrane potential (GO:0060078)3.96566571
36cilium or flagellum-dependent cell motility (GO:0001539)3.94825952
37neurotransmitter secretion (GO:0007269)3.90972567
38neuron recognition (GO:0008038)3.87589961
39long-term memory (GO:0007616)3.85818120
40G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.83144404
41positive regulation of membrane potential (GO:0045838)3.82089478
42regulation of synapse structural plasticity (GO:0051823)3.79179785
43regulation of synaptic transmission, glutamatergic (GO:0051966)3.77413718
44presynaptic membrane organization (GO:0097090)3.76884848
45gamma-aminobutyric acid signaling pathway (GO:0007214)3.70622161
46gamma-aminobutyric acid transport (GO:0015812)3.65724008
47response to histamine (GO:0034776)3.65451309
48dendritic spine morphogenesis (GO:0060997)3.64922354
49regulation of dendritic spine morphogenesis (GO:0061001)3.64816556
50negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.64063048
51regulation of synaptic plasticity (GO:0048167)3.63271409
52transmission of nerve impulse (GO:0019226)3.62634609
53long-term synaptic potentiation (GO:0060291)3.61654306
54proline transport (GO:0015824)3.57788785
55positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.57687147
56axonal fasciculation (GO:0007413)3.56765973
57serotonin metabolic process (GO:0042428)3.56257439
58negative regulation of synaptic transmission, GABAergic (GO:0032229)3.55307826
59membrane depolarization during action potential (GO:0086010)3.54189800
60L-amino acid import (GO:0043092)3.53301744
61positive regulation of synapse maturation (GO:0090129)3.52598422
62primary amino compound metabolic process (GO:1901160)3.46900020
63membrane depolarization (GO:0051899)3.45365035
64behavioral defense response (GO:0002209)3.44482941
65behavioral fear response (GO:0001662)3.44482941
66synaptic vesicle endocytosis (GO:0048488)3.42704408
67positive regulation of synaptic transmission, GABAergic (GO:0032230)3.35645510
68positive regulation of neurotransmitter secretion (GO:0001956)3.34779369
69startle response (GO:0001964)3.33801924
70mechanosensory behavior (GO:0007638)3.32791193
71righting reflex (GO:0060013)3.28374268
72cellular potassium ion homeostasis (GO:0030007)3.27396087
73membrane hyperpolarization (GO:0060081)3.26758504
74C4-dicarboxylate transport (GO:0015740)3.25551158
75cerebellar Purkinje cell differentiation (GO:0021702)3.25230828
76regulation of neurotransmitter secretion (GO:0046928)3.24083664
77layer formation in cerebral cortex (GO:0021819)3.23366296
78neurotransmitter transport (GO:0006836)3.23348164
79regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.23341671
80regulation of dendritic spine development (GO:0060998)3.23208582
81phosphorelay signal transduction system (GO:0000160)3.22259717
82positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.21923788
83fear response (GO:0042596)3.21177391
84innervation (GO:0060384)3.20884814
85learning (GO:0007612)3.20745482
86microtubule polymerization or depolymerization (GO:0031109)3.19216276
87regulation of vesicle fusion (GO:0031338)3.17797871
88G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)3.15919495
89response to auditory stimulus (GO:0010996)3.15120446
90positive regulation of neurotransmitter transport (GO:0051590)3.13831830
91neuronal action potential (GO:0019228)3.13721409
92auditory behavior (GO:0031223)3.13155619
93negative regulation of dendrite development (GO:2000171)3.11086596
94synapse assembly (GO:0007416)3.08813506
95response to pheromone (GO:0019236)3.06455851
96neuronal ion channel clustering (GO:0045161)3.06035592
97positive regulation of dendritic spine development (GO:0060999)3.05508118
98dendrite morphogenesis (GO:0048813)3.03662572
99sperm capacitation (GO:0048240)3.02682014
100prepulse inhibition (GO:0060134)3.02459234
101regulation of cilium movement (GO:0003352)3.01905878
102regulation of neurotransmitter levels (GO:0001505)3.01304161
103central nervous system myelination (GO:0022010)3.00691281
104axon ensheathment in central nervous system (GO:0032291)3.00691281
105positive regulation of synaptic transmission (GO:0050806)3.00184195
106positive regulation of dendritic spine morphogenesis (GO:0061003)3.00018045
107synaptic transmission (GO:0007268)2.99829360
108regulation of neurotransmitter transport (GO:0051588)2.99510864
109regulation of synapse maturation (GO:0090128)2.99100232
110axonemal dynein complex assembly (GO:0070286)2.98476436
111fusion of sperm to egg plasma membrane (GO:0007342)2.98277257
112neuromuscular synaptic transmission (GO:0007274)2.98016560
113regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.97906572
114behavioral response to cocaine (GO:0048148)2.97648473
115regulation of synaptic transmission (GO:0050804)2.97022861
116cerebellar granule cell differentiation (GO:0021707)2.96924407
117adult walking behavior (GO:0007628)2.95237745
118neuromuscular process controlling balance (GO:0050885)2.94938716
119negative regulation of dendrite morphogenesis (GO:0050774)2.94847063
120intraspecies interaction between organisms (GO:0051703)2.92943140
121social behavior (GO:0035176)2.92943140
122striatum development (GO:0021756)2.92868689
123central nervous system projection neuron axonogenesis (GO:0021952)2.92843047
124potassium ion import (GO:0010107)2.92318695
125positive regulation of synapse assembly (GO:0051965)2.90692356
126microtubule depolymerization (GO:0007019)2.90348313
127cilium movement (GO:0003341)2.90155190
128sodium ion export (GO:0071436)2.84676599
129positive regulation of potassium ion transmembrane transport (GO:1901381)2.81694885
130amino acid import (GO:0043090)2.80635697
131negative regulation of cytosolic calcium ion concentration (GO:0051481)2.80489581
132ventricular system development (GO:0021591)2.76644555
133potassium ion transmembrane transport (GO:0071805)2.76613254
134cellular potassium ion transport (GO:0071804)2.76613254
135potassium ion homeostasis (GO:0055075)2.74671547
136microtubule severing (GO:0051013)2.74497042
137multicellular organism reproduction (GO:0032504)2.71614069
138urinary tract smooth muscle contraction (GO:0014848)2.70107171
139positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.64174100

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.75791269
2GBX2_23144817_ChIP-Seq_PC3_Human4.34645879
3* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.07041152
4* JARID2_20064375_ChIP-Seq_MESCs_Mouse2.98017569
5* SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.92357090
6* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.59839713
7* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.53834723
8* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.53834723
9SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.50216996
10* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.49821564
11* EZH2_27304074_Chip-Seq_ESCs_Mouse2.43473794
12REST_21632747_ChIP-Seq_MESCs_Mouse2.43432437
13SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.36941961
14EED_16625203_ChIP-ChIP_MESCs_Mouse2.36703555
15* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.33466407
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.30008100
17DROSHA_22980978_ChIP-Seq_HELA_Human2.28038511
18ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.19047992
19RARB_27405468_Chip-Seq_BRAIN_Mouse2.12473952
20* RNF2_27304074_Chip-Seq_ESCs_Mouse2.07384221
21* EZH2_27294783_Chip-Seq_ESCs_Mouse2.06947391
22TAF15_26573619_Chip-Seq_HEK293_Human2.06911147
23* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.05614898
24* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.99882095
25GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.97315657
26* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.95997074
27SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.95129337
28AR_21572438_ChIP-Seq_LNCaP_Human1.87511536
29SMAD_19615063_ChIP-ChIP_OVARY_Human1.87377399
30* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.85560701
31* REST_18959480_ChIP-ChIP_MESCs_Mouse1.83892770
32* SMAD4_21799915_ChIP-Seq_A2780_Human1.82462191
33IKZF1_21737484_ChIP-ChIP_HCT116_Human1.74939177
34CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.71782233
35PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.70546769
36GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.66537594
37* P300_19829295_ChIP-Seq_ESCs_Human1.66009908
38NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.62131806
39CBX2_27304074_Chip-Seq_ESCs_Mouse1.49537237
40SMAD3_21741376_ChIP-Seq_EPCs_Human1.45039003
41PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.42885552
42RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.39484808
43POU3F2_20337985_ChIP-ChIP_501MEL_Human1.39040306
44AR_25329375_ChIP-Seq_VCAP_Human1.38868190
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.38351717
46BMI1_23680149_ChIP-Seq_NPCS_Mouse1.37692345
47PIAS1_25552417_ChIP-Seq_VCAP_Human1.37230045
48ZNF274_21170338_ChIP-Seq_K562_Hela1.36295731
49FUS_26573619_Chip-Seq_HEK293_Human1.36030992
50* STAT3_23295773_ChIP-Seq_U87_Human1.35512154
51MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.35000352
52IGF1R_20145208_ChIP-Seq_DFB_Human1.34757665
53* SOX2_21211035_ChIP-Seq_LN229_Gbm1.32146567
54* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.30961508
55NR3C1_23031785_ChIP-Seq_PC12_Mouse1.29141267
56* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.29040316
57IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.25930120
58CBP_20019798_ChIP-Seq_JUKART_Human1.25930120
59EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.25197245
60* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24565691
61TP53_16413492_ChIP-PET_HCT116_Human1.24372089
62ARNT_22903824_ChIP-Seq_MCF-7_Human1.23534017
63CDX2_19796622_ChIP-Seq_MESCs_Mouse1.22861809
64* TCF4_23295773_ChIP-Seq_U87_Human1.22538111
65AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.22008568
66AHR_22903824_ChIP-Seq_MCF-7_Human1.21975737
67ZNF217_24962896_ChIP-Seq_MCF-7_Human1.21850414
68* TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.19367352
69TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.18584630
70SMAD3_21741376_ChIP-Seq_ESCs_Human1.18300734
71* RING1B_27294783_Chip-Seq_ESCs_Mouse1.18061560
72TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.17737670
73CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.16908910
74* AR_19668381_ChIP-Seq_PC3_Human1.16263783
75* RNF2_27304074_Chip-Seq_NSC_Mouse1.16100273
76NANOG_18555785_Chip-Seq_ESCs_Mouse1.16019181
77* TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14741060
78* POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.14741060
79* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.14457618
80BCAT_22108803_ChIP-Seq_LS180_Human1.13590363
81SMAD4_21741376_ChIP-Seq_EPCs_Human1.12391742
82* ERG_21242973_ChIP-ChIP_JURKAT_Human1.11290569
83UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.10859908
84PRDM14_20953172_ChIP-Seq_ESCs_Human1.10386488
85* TP53_18474530_ChIP-ChIP_U2OS_Human1.09530032
86P53_22127205_ChIP-Seq_FIBROBLAST_Human1.09484150
87VDR_22108803_ChIP-Seq_LS180_Human1.08831328
88* KDM2B_26808549_Chip-Seq_REH_Human1.07396545
89* RUNX2_22187159_ChIP-Seq_PCA_Human1.07153345
90* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.05524101
91* CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.04563839
92VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.04476175
93NR3C1_21868756_ChIP-Seq_MCF10A_Human1.04320656
94E2F1_18555785_Chip-Seq_ESCs_Mouse1.03147008
95PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.02986990
96* WT1_25993318_ChIP-Seq_PODOCYTE_Human1.02027372
97SMAD4_21741376_ChIP-Seq_HESCs_Human1.01103904
98JUN_21703547_ChIP-Seq_K562_Human1.00949746
99ER_23166858_ChIP-Seq_MCF-7_Human1.00643098
100* RING1B_27294783_Chip-Seq_NPCs_Mouse1.00592082
101EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.99568585
102LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99334678
103SMAD3_21741376_ChIP-Seq_HESCs_Human0.98816459
104TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.97109358
105RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.97076639
106GATA1_26923725_Chip-Seq_HPCs_Mouse0.96861763
107KLF5_20875108_ChIP-Seq_MESCs_Mouse0.96294859
108CMYC_18555785_Chip-Seq_ESCs_Mouse0.96050214
109* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.96041842
110* CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95764045
111EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.95722542
112SOX9_26525672_Chip-Seq_HEART_Mouse0.95596123
113TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95519041
114TCF4_22108803_ChIP-Seq_LS180_Human0.94854443
115P53_22387025_ChIP-Seq_ESCs_Mouse0.94750806
116RXR_22108803_ChIP-Seq_LS180_Human0.93609686

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.44401370
2MP0003880_abnormal_central_pattern5.39377182
3MP0003635_abnormal_synaptic_transmissio4.08492225
4MP0004270_analgesia3.61272276
5MP0009745_abnormal_behavioral_response3.51944436
6MP0001968_abnormal_touch/_nociception3.50443115
7MP0002063_abnormal_learning/memory/cond3.32437043
8MP0002064_seizures3.13827103
9MP0009046_muscle_twitch3.02297802
10MP0002572_abnormal_emotion/affect_behav2.92690889
11MP0002822_catalepsy2.87610911
12MP0002736_abnormal_nociception_after2.85657410
13MP0002735_abnormal_chemical_nociception2.81025385
14MP0005423_abnormal_somatic_nervous2.68634705
15MP0005410_abnormal_fertilization2.65645044
16MP0002272_abnormal_nervous_system2.64465605
17MP0001486_abnormal_startle_reflex2.62196256
18MP0002734_abnormal_mechanical_nocicepti2.61035018
19MP0001501_abnormal_sleep_pattern2.40772865
20MP0001440_abnormal_grooming_behavior2.18647329
21MP0002067_abnormal_sensory_capabilities2.08039618
22MP0002733_abnormal_thermal_nociception2.07218550
23MP0005646_abnormal_pituitary_gland1.98591192
24MP0001970_abnormal_pain_threshold1.96849497
25MP0000778_abnormal_nervous_system1.89295483
26MP0002184_abnormal_innervation1.84067257
27MP0006276_abnormal_autonomic_nervous1.81935241
28MP0003879_abnormal_hair_cell1.77744314
29MP0002557_abnormal_social/conspecific_i1.77239783
30MP0004924_abnormal_behavior1.73707023
31MP0005386_behavior/neurological_phenoty1.73707023
32MP0009780_abnormal_chondrocyte_physiolo1.70563568
33MP0008569_lethality_at_weaning1.69397023
34MP0004858_abnormal_nervous_system1.65824584
35MP0004811_abnormal_neuron_physiology1.60225224
36MP0001188_hyperpigmentation1.58689226
37MP0003787_abnormal_imprinting1.57315329
38MP0001984_abnormal_olfaction1.57277361
39MP0001529_abnormal_vocalization1.55361808
40MP0005670_abnormal_white_adipose1.53699826
41MP0003698_abnormal_male_reproductive1.52788654
42MP0008877_abnormal_DNA_methylation1.51858655
43MP0005645_abnormal_hypothalamus_physiol1.50044030
44MP0000955_abnormal_spinal_cord1.42602656
45MP0002909_abnormal_adrenal_gland1.42364638
46MP0002066_abnormal_motor_capabilities/c1.35498537
47MP0002882_abnormal_neuron_morphology1.34481889
48MP0003878_abnormal_ear_physiology1.32199520
49MP0005377_hearing/vestibular/ear_phenot1.32199520
50MP0001905_abnormal_dopamine_level1.32061080
51MP0003329_amyloid_beta_deposits1.30783323
52MP0003633_abnormal_nervous_system1.25679828
53MP0001929_abnormal_gametogenesis1.21750886
54MP0001502_abnormal_circadian_rhythm1.18918769
55MP0004147_increased_porphyrin_level1.14141073
56MP0004885_abnormal_endolymph1.13798888
57MP0004142_abnormal_muscle_tone1.13049191
58MP0003631_nervous_system_phenotype1.07963599
59MP0002638_abnormal_pupillary_reflex1.03720463
60MP0005409_darkened_coat_color1.02472116
61MP0008872_abnormal_physiological_respon1.02335856
62MP0002152_abnormal_brain_morphology1.01614253
63MP0002876_abnormal_thyroid_physiology1.01531470
64MP0000569_abnormal_digit_pigmentation0.99548731
65MP0004145_abnormal_muscle_electrophysio0.98885305
66MP0005253_abnormal_eye_physiology0.98107742
67MP0004742_abnormal_vestibular_system0.97052982
68MP0003123_paternal_imprinting0.96723040
69MP0005083_abnormal_biliary_tract0.93377464
70MP0005551_abnormal_eye_electrophysiolog0.91517645
71MP0010386_abnormal_urinary_bladder0.91366604
72MP0003122_maternal_imprinting0.91086303
73MP0004043_abnormal_pH_regulation0.90666787
74MP0004510_myositis0.88913795
75MP0002069_abnormal_eating/drinking_beha0.88889720
76MP0008874_decreased_physiological_sensi0.88766460
77MP0003646_muscle_fatigue0.88642346
78MP0001963_abnormal_hearing_physiology0.88257361
79MP0001177_atelectasis0.88210275
80MP0004085_abnormal_heartbeat0.86356781
81MP0000751_myopathy0.85392735
82MP0002229_neurodegeneration0.85150778
83MP0003718_maternal_effect0.85096542
84MP0002161_abnormal_fertility/fecundity0.82881083
85MP0000631_abnormal_neuroendocrine_gland0.81818681
86MP0002653_abnormal_ependyma_morphology0.81482165
87MP0001485_abnormal_pinna_reflex0.81414631
88MP0004130_abnormal_muscle_cell0.81218884
89MP0003121_genomic_imprinting0.81080539
90MP0006292_abnormal_olfactory_placode0.79054876
91MP0001765_abnormal_ion_homeostasis0.78012614
92MP0002752_abnormal_somatic_nervous0.77828204
93MP0005171_absent_coat_pigmentation0.76714205
94MP0005535_abnormal_body_temperature0.76653599
95MP0002210_abnormal_sex_determination0.75952745
96MP0003632_abnormal_nervous_system0.74511901
97MP0005394_taste/olfaction_phenotype0.72462790
98MP0005499_abnormal_olfactory_system0.72462790
99MP0002160_abnormal_reproductive_system0.72016336
100MP0002249_abnormal_larynx_morphology0.69987476
101MP0004215_abnormal_myocardial_fiber0.69853369
102MP0001664_abnormal_digestion0.67917644
103MP0001348_abnormal_lacrimal_gland0.67845273
104MP0003634_abnormal_glial_cell0.67743952
105MP0003690_abnormal_glial_cell0.62448367
106MP0004133_heterotaxia0.62141875
107MP0000920_abnormal_myelination0.61439487
108MP0004484_altered_response_of0.61207711
109MP0003075_altered_response_to0.60505459
110MP0002837_dystrophic_cardiac_calcinosis0.60474590
111MP0003136_yellow_coat_color0.60428552
112MP0000026_abnormal_inner_ear0.59526640
113MP0003137_abnormal_impulse_conducting0.59136014
114MP0003283_abnormal_digestive_organ0.58427628
115MP0008961_abnormal_basal_metabolism0.58232707
116MP0001943_abnormal_respiration0.55790125
117MP0001986_abnormal_taste_sensitivity0.54653742
118MP0002090_abnormal_vision0.53771710
119MP0001299_abnormal_eye_distance/0.52927026
120MP0002751_abnormal_autonomic_nervous0.51378264
121MP0002082_postnatal_lethality0.50110813
122MP0010770_preweaning_lethality0.50110813
123MP0010769_abnormal_survival0.50034835
124MP0003861_abnormal_nervous_system0.49977442
125MP0003045_fibrosis0.48915533
126MP0010768_mortality/aging0.47057349
127MP0003938_abnormal_ear_development0.46450944

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)8.98948961
2Myokymia (HP:0002411)6.51378491
3Focal seizures (HP:0007359)6.21748755
4Epileptic encephalopathy (HP:0200134)5.52126959
5Febrile seizures (HP:0002373)5.43333566
6Atonic seizures (HP:0010819)5.04850922
7Hyperventilation (HP:0002883)4.67993895
8Progressive cerebellar ataxia (HP:0002073)4.45043272
9Visual hallucinations (HP:0002367)4.35445731
10Absence seizures (HP:0002121)4.33538611
11Broad-based gait (HP:0002136)4.29887798
12Dialeptic seizures (HP:0011146)4.10833755
13Generalized tonic-clonic seizures (HP:0002069)3.99604025
14Gaze-evoked nystagmus (HP:0000640)3.81042443
15Action tremor (HP:0002345)3.57842591
16Poor eye contact (HP:0000817)3.55333411
17Abnormal ciliary motility (HP:0012262)3.25359631
18Truncal ataxia (HP:0002078)3.13969335
19Amblyopia (HP:0000646)3.12074869
20Dysdiadochokinesis (HP:0002075)3.11653666
21Impaired social interactions (HP:0000735)3.11592687
22Abnormal social behavior (HP:0012433)3.11592687
23Impaired vibration sensation in the lower limbs (HP:0002166)3.10852956
24Drooling (HP:0002307)3.09923876
25Excessive salivation (HP:0003781)3.09923876
26Absent speech (HP:0001344)3.02549643
27Abnormal respiratory epithelium morphology (HP:0012253)2.98702675
28Abnormal respiratory motile cilium morphology (HP:0005938)2.98702675
29Chronic hepatic failure (HP:0100626)2.94916768
30Dysmetria (HP:0001310)2.93709325
31Abnormal respiratory motile cilium physiology (HP:0012261)2.93482559
32Supranuclear gaze palsy (HP:0000605)2.88034534
33Protruding tongue (HP:0010808)2.80798851
34Bony spicule pigmentary retinopathy (HP:0007737)2.80585620
35Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.80216113
36Urinary bladder sphincter dysfunction (HP:0002839)2.76069057
37Depression (HP:0000716)2.72686662
38Nephronophthisis (HP:0000090)2.72493455
39Epileptiform EEG discharges (HP:0011182)2.72378943
40Attenuation of retinal blood vessels (HP:0007843)2.71247213
41Hemiparesis (HP:0001269)2.70698342
42Anxiety (HP:0000739)2.70430613
43Impaired smooth pursuit (HP:0007772)2.64662178
44Abnormal eating behavior (HP:0100738)2.64413578
45Pancreatic fibrosis (HP:0100732)2.63712853
46Scanning speech (HP:0002168)2.62372189
47Blue irides (HP:0000635)2.58909850
48Genetic anticipation (HP:0003743)2.58103823
49Fetal akinesia sequence (HP:0001989)2.57739377
50Postural instability (HP:0002172)2.57515262
51Diplopia (HP:0000651)2.53345295
52Abnormality of binocular vision (HP:0011514)2.53345295
53Stereotypic behavior (HP:0000733)2.52172013
54Molar tooth sign on MRI (HP:0002419)2.50354604
55Abnormality of midbrain morphology (HP:0002418)2.50354604
56Pancreatic cysts (HP:0001737)2.48503371
57True hermaphroditism (HP:0010459)2.48257670
58Ankle clonus (HP:0011448)2.47271601
59Inability to walk (HP:0002540)2.46559235
60EEG with generalized epileptiform discharges (HP:0011198)2.44909929
61Progressive inability to walk (HP:0002505)2.40635087
62Severe visual impairment (HP:0001141)2.40249060
63Decreased central vision (HP:0007663)2.36756260
64Abnormality of macular pigmentation (HP:0008002)2.35173905
65Abnormality of ocular smooth pursuit (HP:0000617)2.31895948
66Torticollis (HP:0000473)2.31395966
67Retinal dysplasia (HP:0007973)2.30835693
68Mutism (HP:0002300)2.30178451
69Abnormality of the renal medulla (HP:0100957)2.29253884
70Rhinitis (HP:0012384)2.27914172
71Hyperkalemia (HP:0002153)2.27532049
72Bradykinesia (HP:0002067)2.26967911
73Limb dystonia (HP:0002451)2.24946681
74Hypsarrhythmia (HP:0002521)2.22495044
75Impaired vibratory sensation (HP:0002495)2.19599320
76Spastic gait (HP:0002064)2.19027342
77Status epilepticus (HP:0002133)2.18845841
78Dynein arm defect of respiratory motile cilia (HP:0012255)2.14165696
79Absent/shortened dynein arms (HP:0200106)2.14165696
80Generalized hypopigmentation of hair (HP:0011358)2.13964445
81Focal dystonia (HP:0004373)2.13821587
82Fair hair (HP:0002286)2.12653446
83Abnormality of salivation (HP:0100755)2.12394884
84Urinary urgency (HP:0000012)2.12295488
85Tubulointerstitial nephritis (HP:0001970)2.09184781
86Cystic liver disease (HP:0006706)2.05283417
87Polyphagia (HP:0002591)2.05139054
88Exotropia (HP:0000577)2.04983764
89Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.03356125
90Hemiplegia (HP:0002301)2.03260742
91Type II lissencephaly (HP:0007260)2.03208135
92Congenital stationary night blindness (HP:0007642)2.01661733
93Dysmetric saccades (HP:0000641)2.01311827
94Incomplete penetrance (HP:0003829)2.01039543
95Lower limb amyotrophy (HP:0007210)2.00638790
96Polydipsia (HP:0001959)1.98777682
97Abnormal drinking behavior (HP:0030082)1.98777682
98Abnormality of the lower motor neuron (HP:0002366)1.98687874
99Generalized myoclonic seizures (HP:0002123)1.98566108
100Obstructive sleep apnea (HP:0002870)1.96546867
101Inappropriate behavior (HP:0000719)1.94743857
102Intention tremor (HP:0002080)1.94576206
103Congenital sensorineural hearing impairment (HP:0008527)1.93128362
104Termporal pattern (HP:0011008)1.92048652
105Insidious onset (HP:0003587)1.92048652
106Widely spaced teeth (HP:0000687)1.90187683
107Papilledema (HP:0001085)1.90034089
108Lower limb muscle weakness (HP:0007340)1.89448575
109Gait imbalance (HP:0002141)1.89284886
110Gait ataxia (HP:0002066)1.88919076
111Gastroesophageal reflux (HP:0002020)1.88774532
112Cerebral inclusion bodies (HP:0100314)1.88554924
113Craniofacial dystonia (HP:0012179)1.88262186
114Abnormal EKG (HP:0003115)1.87114544
115Bell-shaped thorax (HP:0001591)1.86929692
116Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.83955028
117Degeneration of the lateral corticospinal tracts (HP:0002314)1.83955028
118Abnormality of the corticospinal tract (HP:0002492)1.83693074
119Truncal obesity (HP:0001956)1.82775209
120Neurofibrillary tangles (HP:0002185)1.82616129
121Aplasia involving bones of the upper limbs (HP:0009823)1.78913155
122Aplasia of the phalanges of the hand (HP:0009802)1.78913155
123Aplasia involving bones of the extremities (HP:0009825)1.78913155
124Deeply set eye (HP:0000490)1.78107827
125Morphological abnormality of the pyramidal tract (HP:0002062)1.75472917
126Megalencephaly (HP:0001355)1.74655620
127Abnormality of the ischium (HP:0003174)1.74126666
128Syncope (HP:0001279)1.73962877
129Pheochromocytoma (HP:0002666)1.73548370
130Anencephaly (HP:0002323)1.73263603
131Sclerocornea (HP:0000647)1.72970324
132Infertility (HP:0000789)1.72353836
133Specific learning disability (HP:0001328)1.72200913
134Prolonged QT interval (HP:0001657)1.72063799
135Clumsiness (HP:0002312)1.71748031
136Abnormal rod and cone electroretinograms (HP:0008323)1.71237673
137Abnormal hair whorl (HP:0010721)1.68402853
138Bradycardia (HP:0001662)1.67978819
139Decreased circulating renin level (HP:0003351)1.67406425
140Chronic bronchitis (HP:0004469)1.63901787
141Increased circulating renin level (HP:0000848)1.60026180
142Hypoplastic ischia (HP:0003175)1.59902528
143Abnormality of the renal cortex (HP:0011035)1.59074369

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK35.36511385
2EPHA45.12806267
3FRK3.76977543
4CASK3.40804946
5MAP3K92.99378446
6MAP3K42.77734999
7TNIK2.76870948
8DAPK22.66610280
9MAP2K72.64946178
10MARK12.61909616
11RIPK42.26702039
12MINK12.25713577
13PRPF4B2.22344111
14INSRR2.04362637
15NTRK21.99495938
16MAP3K121.93764814
17DAPK11.77776573
18PAK61.72456772
19MAPK131.66506926
20MAP2K41.66254629
21PLK21.57931730
22SIK21.55331152
23KSR11.50346609
24NTRK11.48406758
25KSR21.48217799
26CAMK1D1.44996212
27PLK41.42243625
28CDK51.42081341
29CAMKK11.40982939
30PRKD31.28883055
31FES1.24241802
32STK391.23550331
33GRK51.22730197
34PRKCG1.19597036
35MAPK151.19414937
36WNK41.17763513
37CAMK2A1.17568866
38STK381.13135234
39SGK21.12715020
40CAMKK21.12554729
41BMPR21.08626517
42SIK31.04672999
43PTK2B1.01528764
44CCNB11.01112025
45SGK4941.00804321
46SGK2231.00804321
47CDK191.00443684
48CAMK2B0.99842732
49GRK10.95420084
50PNCK0.94155201
51PKN10.94083565
52AKT30.89869229
53CAMK10.89117049
54MAP3K130.85494426
55MAP3K20.83686776
56ARAF0.82847116
57PHKG10.82462676
58PHKG20.82462676
59SGK10.81897414
60BMPR1B0.81896305
61ACVR1B0.79942346
62TYRO30.78552515
63SGK30.76128880
64NME10.74424399
65MAP4K20.74091338
66CDK180.71581980
67STK110.69036030
68OXSR10.67729601
69CDK150.67691615
70MUSK0.67099517
71RAF10.65451875
72FGR0.63498956
73WNK30.61883973
74DDR20.61371338
75CDK140.61365937
76UHMK10.60898288
77MARK20.60192556
78PRKCE0.59902766
79NEK60.59883924
80MAPKAPK50.59497106
81STK38L0.57687003
82TAOK10.57554398
83PRKCH0.57300052
84CDK11A0.56967749
85TNK20.56754806
86FGFR20.56748467
87CAMK40.56622894
88PAK30.56306646
89CAMK2D0.55785760
90DYRK1A0.55650761
91DYRK20.55527242
92PINK10.53881670
93RET0.53576993
94LATS20.52913147
95GSK3B0.51103543
96CSNK1G20.50828403
97CAMK1G0.48017647
98CDC42BPA0.47631889
99TAOK30.46671970
100PRKAA10.46094268
101RPS6KA30.45930574
102FER0.45736114
103NUAK10.44823969
104CAMK2G0.44035190
105PRKCZ0.43780126
106CDK30.42747023
107PDK10.41276599
108MAP3K10.39720987
109FYN0.39523738
110PDPK10.39241152
111LMTK20.39083890
112MAP3K70.37953669
113CSNK1A10.37411160
114ADRBK20.37344156
115BRD40.37303062
116CSNK1D0.37284523
117MAPK80.36207892
118MAPK100.35533609
119ROCK10.34287433
120PRKCB0.33907687
121MAP2K10.32499204
122PRKG10.32021394
123PRKCA0.31296311
124BRAF0.30523406
125WNK10.30184922
126PRKACA0.29984621

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.30309464
2Synaptic vesicle cycle_Homo sapiens_hsa047212.99581071
3Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.87806286
4Circadian entrainment_Homo sapiens_hsa047132.83232507
5Long-term potentiation_Homo sapiens_hsa047202.82446906
6Glutamatergic synapse_Homo sapiens_hsa047242.80059836
7Morphine addiction_Homo sapiens_hsa050322.67045231
8Olfactory transduction_Homo sapiens_hsa047402.66705462
9Amphetamine addiction_Homo sapiens_hsa050312.64360756
10GABAergic synapse_Homo sapiens_hsa047272.64278380
11Salivary secretion_Homo sapiens_hsa049702.26657084
12Dopaminergic synapse_Homo sapiens_hsa047282.17632655
13Taste transduction_Homo sapiens_hsa047422.05975575
14Insulin secretion_Homo sapiens_hsa049112.03561487
15Cholinergic synapse_Homo sapiens_hsa047251.89954164
16Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.89753271
17Serotonergic synapse_Homo sapiens_hsa047261.86878008
18Calcium signaling pathway_Homo sapiens_hsa040201.85554682
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.79593519
20Long-term depression_Homo sapiens_hsa047301.78173265
21Fatty acid biosynthesis_Homo sapiens_hsa000611.77916719
22Gastric acid secretion_Homo sapiens_hsa049711.77823974
23Renin secretion_Homo sapiens_hsa049241.75696136
24Cocaine addiction_Homo sapiens_hsa050301.74295211
25Oxytocin signaling pathway_Homo sapiens_hsa049211.68830854
26Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.67379361
27Butanoate metabolism_Homo sapiens_hsa006501.56578366
28Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.55332247
29Collecting duct acid secretion_Homo sapiens_hsa049661.44376725
30Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.44268866
31GnRH signaling pathway_Homo sapiens_hsa049121.37084738
32cAMP signaling pathway_Homo sapiens_hsa040241.34412048
33Gap junction_Homo sapiens_hsa045401.32518147
34Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.32085527
35Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.31900565
36Axon guidance_Homo sapiens_hsa043601.27973131
37Phosphatidylinositol signaling system_Homo sapiens_hsa040701.19048985
38Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.17588050
39Type II diabetes mellitus_Homo sapiens_hsa049301.16652387
40Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.09027595
41Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.07483364
42cGMP-PKG signaling pathway_Homo sapiens_hsa040221.07450102
43ErbB signaling pathway_Homo sapiens_hsa040121.05249786
44Glioma_Homo sapiens_hsa052141.04700173
45Estrogen signaling pathway_Homo sapiens_hsa049151.03313021
46Melanogenesis_Homo sapiens_hsa049161.01977166
47Vascular smooth muscle contraction_Homo sapiens_hsa042700.99736191
48ABC transporters_Homo sapiens_hsa020100.95785407
49Histidine metabolism_Homo sapiens_hsa003400.92545478
50Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.90771699
51Cardiac muscle contraction_Homo sapiens_hsa042600.90479766
52Pancreatic secretion_Homo sapiens_hsa049720.86876202
53Phospholipase D signaling pathway_Homo sapiens_hsa040720.86556649
54Choline metabolism in cancer_Homo sapiens_hsa052310.84269782
55Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.83293534
56Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.83212594
57Phototransduction_Homo sapiens_hsa047440.81126936
58beta-Alanine metabolism_Homo sapiens_hsa004100.81071498
59Dilated cardiomyopathy_Homo sapiens_hsa054140.80161560
60Vibrio cholerae infection_Homo sapiens_hsa051100.77586189
61Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.74134276
62MAPK signaling pathway_Homo sapiens_hsa040100.73429548
63Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.73321601
64Tryptophan metabolism_Homo sapiens_hsa003800.68730749
65Thyroid hormone synthesis_Homo sapiens_hsa049180.68729431
66Dorso-ventral axis formation_Homo sapiens_hsa043200.68615937
67Linoleic acid metabolism_Homo sapiens_hsa005910.66430075
68Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.64972630
69Oocyte meiosis_Homo sapiens_hsa041140.64336218
70Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.64279453
71Ras signaling pathway_Homo sapiens_hsa040140.63701520
72Lysine degradation_Homo sapiens_hsa003100.61628345
73Nitrogen metabolism_Homo sapiens_hsa009100.61617349
74Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.61008681
75Circadian rhythm_Homo sapiens_hsa047100.58881859
76Rap1 signaling pathway_Homo sapiens_hsa040150.57797714
77African trypanosomiasis_Homo sapiens_hsa051430.55868215
78Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.52805868
79Primary bile acid biosynthesis_Homo sapiens_hsa001200.52610594
80Ether lipid metabolism_Homo sapiens_hsa005650.51600841
81Wnt signaling pathway_Homo sapiens_hsa043100.50814378
82Inositol phosphate metabolism_Homo sapiens_hsa005620.50501379
83Glucagon signaling pathway_Homo sapiens_hsa049220.50499407
84Carbohydrate digestion and absorption_Homo sapiens_hsa049730.49753476
85VEGF signaling pathway_Homo sapiens_hsa043700.49476525
86alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.49130737
87Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.48652061
88Thyroid hormone signaling pathway_Homo sapiens_hsa049190.46140858
89Selenocompound metabolism_Homo sapiens_hsa004500.45974402
90Sphingolipid signaling pathway_Homo sapiens_hsa040710.45392357
91Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.45050151
92Neurotrophin signaling pathway_Homo sapiens_hsa047220.44029496
93Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.43622113
94Ovarian steroidogenesis_Homo sapiens_hsa049130.43097131
95Alcoholism_Homo sapiens_hsa050340.41416872
96Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.39677700
97Fatty acid metabolism_Homo sapiens_hsa012120.39614646
98Type I diabetes mellitus_Homo sapiens_hsa049400.38752180
99Glycerolipid metabolism_Homo sapiens_hsa005610.38320389
100Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.37537415
101Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.37362814
102Arginine and proline metabolism_Homo sapiens_hsa003300.37094510
103Vitamin B6 metabolism_Homo sapiens_hsa007500.37089489
104Maturity onset diabetes of the young_Homo sapiens_hsa049500.36217906
105Alzheimers disease_Homo sapiens_hsa050100.34926326
106Hedgehog signaling pathway_Homo sapiens_hsa043400.33042329
107Chemokine signaling pathway_Homo sapiens_hsa040620.32975728
108Longevity regulating pathway - mammal_Homo sapiens_hsa042110.32693945
109Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.32658927
110Propanoate metabolism_Homo sapiens_hsa006400.32265468
111Endometrial cancer_Homo sapiens_hsa052130.31904796
112mTOR signaling pathway_Homo sapiens_hsa041500.31699037
113Glycerophospholipid metabolism_Homo sapiens_hsa005640.31360545
114Bile secretion_Homo sapiens_hsa049760.30038924
115Prion diseases_Homo sapiens_hsa050200.29947845
116Steroid hormone biosynthesis_Homo sapiens_hsa001400.29599333
117Insulin signaling pathway_Homo sapiens_hsa049100.29545932
118Endocytosis_Homo sapiens_hsa041440.28829433
119Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.27804995
120Rheumatoid arthritis_Homo sapiens_hsa053230.26667997
121Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.26455850
122Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.25568758
123SNARE interactions in vesicular transport_Homo sapiens_hsa041300.24799130
124Non-small cell lung cancer_Homo sapiens_hsa052230.24741739
125Mineral absorption_Homo sapiens_hsa049780.21504247
126Melanoma_Homo sapiens_hsa052180.19905111

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