GFAP

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 one of the major intermediate filament proteins of mature astrocytes. It is used as a marker to distinguish astrocytes from other glial cells during development. Mutations in this gene cause Alexander disease, a rare disorder of astrocytes in the central nervous system. Alternative splicing results in multiple transcript variants encoding distinct isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sodium ion export (GO:0071436)6.11865363
2cellular potassium ion homeostasis (GO:0030007)5.79373614
3locomotory exploration behavior (GO:0035641)5.57918632
4L-amino acid import (GO:0043092)5.53200645
5potassium ion import (GO:0010107)5.21631437
6synaptic vesicle maturation (GO:0016188)4.90342651
7one-carbon compound transport (GO:0019755)4.65799800
8glial cell proliferation (GO:0014009)4.58501403
9amino acid import (GO:0043090)4.58343730
10glutamate secretion (GO:0014047)4.57729089
11cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.47577211
12potassium ion homeostasis (GO:0055075)4.47301628
13cell communication by electrical coupling (GO:0010644)4.46993907
14regulation of short-term neuronal synaptic plasticity (GO:0048172)4.44962015
15hyperosmotic salinity response (GO:0042538)4.38329148
16presynaptic membrane assembly (GO:0097105)4.34904326
17presynaptic membrane organization (GO:0097090)4.31073665
18axon ensheathment in central nervous system (GO:0032291)4.26830707
19central nervous system myelination (GO:0022010)4.26830707
20gamma-aminobutyric acid transport (GO:0015812)4.25536540
21neurotransmitter uptake (GO:0001504)4.16962879
22cellular sodium ion homeostasis (GO:0006883)4.15770711
23response to auditory stimulus (GO:0010996)4.08308043
24positive regulation of potassium ion transmembrane transporter activity (GO:1901018)4.05675390
25dermatan sulfate biosynthetic process (GO:0030208)4.04029460
26regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.01044651
27layer formation in cerebral cortex (GO:0021819)3.98772834
28cellular response to cholesterol (GO:0071397)3.92562446
29positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.89283516
30dermatan sulfate metabolic process (GO:0030205)3.79123726
31exploration behavior (GO:0035640)3.79018000
32negative regulation of synaptic transmission, GABAergic (GO:0032229)3.77940201
33regulation of neuronal synaptic plasticity (GO:0048168)3.77252249
34negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.75617992
35glycine transport (GO:0015816)3.71782627
36positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.71566834
37synaptic vesicle exocytosis (GO:0016079)3.70172815
38positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.69069382
39vocalization behavior (GO:0071625)3.68671058
40neurotransmitter secretion (GO:0007269)3.67767708
41membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.67571382
42myelination in peripheral nervous system (GO:0022011)3.63800641
43peripheral nervous system axon ensheathment (GO:0032292)3.63800641
44regulation of long-term neuronal synaptic plasticity (GO:0048169)3.61370493
45regulation of synapse structural plasticity (GO:0051823)3.60942311
46regulation of glutamate receptor signaling pathway (GO:1900449)3.60163153
47synaptic vesicle docking involved in exocytosis (GO:0016081)3.53709862
48positive regulation of synapse maturation (GO:0090129)3.49252112
49oligodendrocyte differentiation (GO:0048709)3.48584861
50regulation of synaptic vesicle exocytosis (GO:2000300)3.47230190
51regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.36426648
52neuronal action potential propagation (GO:0019227)3.36151223
53negative regulation of leukocyte chemotaxis (GO:0002689)3.31525374
54neurotransmitter-gated ion channel clustering (GO:0072578)3.30877104
55auditory behavior (GO:0031223)3.30262641
56neuron cell-cell adhesion (GO:0007158)3.27269464
57regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.26995891
58positive regulation of potassium ion transmembrane transport (GO:1901381)3.25631433
59positive regulation of inositol phosphate biosynthetic process (GO:0060732)3.23821562
60membrane repolarization (GO:0086009)3.23064558
61lung epithelium development (GO:0060428)3.20307347
62ensheathment of neurons (GO:0007272)3.20072731
63axon ensheathment (GO:0008366)3.20072731
64neurotransmitter transport (GO:0006836)3.19671655
65myelin maintenance (GO:0043217)3.18213342
66adenosine receptor signaling pathway (GO:0001973)3.17780239
67photoreceptor cell differentiation (GO:0046530)3.16878153
68eye photoreceptor cell differentiation (GO:0001754)3.16878153
69regulation of synaptic vesicle transport (GO:1902803)3.16626303
70dendrite morphogenesis (GO:0048813)3.12610562
71protein localization to synapse (GO:0035418)3.10613547
72glutamate receptor signaling pathway (GO:0007215)3.10530357
73ionotropic glutamate receptor signaling pathway (GO:0035235)3.10309519
74cellular response to sterol (GO:0036315)3.09402319
75cGMP-mediated signaling (GO:0019934)3.09110697
76positive regulation of potassium ion transport (GO:0043268)3.07248723
77positive regulation of dendritic spine development (GO:0060999)3.06986560
78regulation of neurotransmitter levels (GO:0001505)3.06566592
79negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.03771248
80regulation of inclusion body assembly (GO:0090083)3.02676105
81long-term memory (GO:0007616)3.01865574
82innervation (GO:0060384)3.00122729
83proline transport (GO:0015824)2.96770488
84positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.96043239
85regulation of cholesterol biosynthetic process (GO:0045540)2.94683542
86neuromuscular process controlling balance (GO:0050885)2.94073061
87response to dietary excess (GO:0002021)2.93793089
88positive regulation of membrane potential (GO:0045838)2.93327452
89regulation of excitatory postsynaptic membrane potential (GO:0060079)2.91937496
90mechanosensory behavior (GO:0007638)2.90822631
91acidic amino acid transport (GO:0015800)2.89536950
92substantia nigra development (GO:0021762)2.89512632
93synaptic vesicle endocytosis (GO:0048488)2.88250083
94cerebellar Purkinje cell layer development (GO:0021680)2.87949841
95regulation of neurotransmitter secretion (GO:0046928)2.87311988
96L-glutamate transport (GO:0015813)2.87165252
97membrane assembly (GO:0071709)2.85955090
98regulation of female receptivity (GO:0045924)2.82772687
99dendritic spine morphogenesis (GO:0060997)2.82525863
100regulation of response to osmotic stress (GO:0047484)2.82228905
101* astrocyte differentiation (GO:0048708)2.80794098
102establishment of mitochondrion localization (GO:0051654)2.80345660
103cytoskeletal anchoring at plasma membrane (GO:0007016)2.80105262
104regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.77590128
105regulation of beta-amyloid formation (GO:1902003)2.77249138
106stress fiber assembly (GO:0043149)2.77062202
107cell communication involved in cardiac conduction (GO:0086065)2.76882214
108synaptic transmission, glutamatergic (GO:0035249)2.75872598
109regulation of synapse maturation (GO:0090128)2.75502257
110positive regulation of sodium ion transmembrane transport (GO:1902307)2.75019259
111activation of protein kinase A activity (GO:0034199)2.73818898
112* regulation of synaptic plasticity (GO:0048167)2.73333894
113* long-term synaptic potentiation (GO:0060291)2.70231877
114postsynaptic membrane organization (GO:0001941)2.68158520
115regulation of respiratory system process (GO:0044065)2.67157052
116positive regulation of macrophage cytokine production (GO:0060907)2.67125162
117negative regulation of sodium ion transport (GO:0010766)2.67014058
118regulation of amyloid precursor protein catabolic process (GO:1902991)2.65776535
119cerebellar granule cell differentiation (GO:0021707)2.65720650
120negative regulation of humoral immune response (GO:0002921)2.65514009
121negative regulation of microtubule polymerization (GO:0031115)2.65511728
122neuromuscular process controlling posture (GO:0050884)2.65043166
123neuronal ion channel clustering (GO:0045161)2.64079532
124regulation of ARF protein signal transduction (GO:0032012)2.57708392
125chondroitin sulfate catabolic process (GO:0030207)2.55671829
126membrane hyperpolarization (GO:0060081)2.52730214
127myelination (GO:0042552)2.51923110
128neuron-neuron synaptic transmission (GO:0007270)2.51482603
129filopodium assembly (GO:0046847)2.51383313
130regulation of synaptic transmission, glutamatergic (GO:0051966)2.50397708
131* astrocyte development (GO:0014002)2.49979910
132alanine transport (GO:0032328)2.49448528
133positive regulation of sodium ion transport (GO:0010765)2.49262117
134peptidyl-tyrosine autophosphorylation (GO:0038083)2.48073802
135neuron recognition (GO:0008038)2.47150086

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.35383249
2SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.79371073
3SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.70977091
4EZH2_18974828_ChIP-Seq_MESCs_Mouse2.67691516
5RNF2_18974828_ChIP-Seq_MESCs_Mouse2.67691516
6SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.64210909
7JARID2_20064375_ChIP-Seq_MESCs_Mouse2.61057127
8DROSHA_22980978_ChIP-Seq_HELA_Human2.55194373
9IKZF1_21737484_ChIP-ChIP_HCT116_Human2.52128245
10MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.49987119
11MTF2_20144788_ChIP-Seq_MESCs_Mouse2.46261765
12SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.40896468
13EED_16625203_ChIP-ChIP_MESCs_Mouse2.37728232
14JARID2_20075857_ChIP-Seq_MESCs_Mouse2.37703591
15SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.35735516
16* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.34816765
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.10217679
18RNF2_27304074_Chip-Seq_ESCs_Mouse2.10136143
19* EZH2_27294783_Chip-Seq_ESCs_Mouse2.08699986
20EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.07674057
21RARB_27405468_Chip-Seq_BRAIN_Mouse2.04668224
22* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.03527432
23REST_21632747_ChIP-Seq_MESCs_Mouse1.94370467
24ERG_21242973_ChIP-ChIP_JURKAT_Human1.91395528
25CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.87692265
26AR_21572438_ChIP-Seq_LNCaP_Human1.78641735
27WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.76421251
28ZFP281_18757296_ChIP-ChIP_E14_Mouse1.74623885
29RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.72244495
30REST_18959480_ChIP-ChIP_MESCs_Mouse1.72201747
31ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.62611399
32TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.60984544
33ESR2_21235772_ChIP-Seq_MCF-7_Human1.57570955
34GBX2_23144817_ChIP-Seq_PC3_Human1.56129190
35KDM2B_26808549_Chip-Seq_K562_Human1.54235916
36* RING1B_27294783_Chip-Seq_ESCs_Mouse1.53618026
37ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.52160729
38WT1_25993318_ChIP-Seq_PODOCYTE_Human1.45864888
39RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.42497508
40PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.39951461
41CDX2_19796622_ChIP-Seq_MESCs_Mouse1.39700512
42DNAJC2_21179169_ChIP-ChIP_NT2_Human1.39602483
43EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.36674761
44ZFP281_27345836_Chip-Seq_ESCs_Mouse1.33108874
45* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.31953435
46NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.30510392
47KDM2B_26808549_Chip-Seq_SUP-B15_Human1.28647944
48GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.26898817
49SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.26747908
50THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.23778414
51RING1B_27294783_Chip-Seq_NPCs_Mouse1.23429716
52TP53_20018659_ChIP-ChIP_R1E_Mouse1.23418074
53TRIM28_21343339_ChIP-Seq_HEK293_Human1.19217779
54RXR_22108803_ChIP-Seq_LS180_Human1.17775467
55PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.14690543
56DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.13615027
57AR_19668381_ChIP-Seq_PC3_Human1.12340140
58BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.12086091
59TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.10975502
60RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.10678099
61SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.09576179
62LXR_22292898_ChIP-Seq_THP-1_Human1.09370348
63NR3C1_23031785_ChIP-Seq_PC12_Mouse1.09252483
64VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.07851353
65EP300_21415370_ChIP-Seq_HL-1_Mouse1.06769566
66SMAD4_21741376_ChIP-Seq_HESCs_Human1.05478535
67GATA1_26923725_Chip-Seq_HPCs_Mouse1.04975136
68ZNF217_24962896_ChIP-Seq_MCF-7_Human1.04588473
69RARG_19884340_ChIP-ChIP_MEFs_Mouse1.02512678
70MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.01277762
71CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.99761603
72KDM2B_26808549_Chip-Seq_JURKAT_Human0.98860709
73OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.98769371
74SOX2_21211035_ChIP-Seq_LN229_Gbm0.98655824
75YAP1_20516196_ChIP-Seq_MESCs_Mouse0.98067790
76SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.96503904
77SMAD3_21741376_ChIP-Seq_ESCs_Human0.95031580
78TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94946259
79ESR1_15608294_ChIP-ChIP_MCF-7_Human0.94564333
80CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.92603791
81* CTCF_27219007_Chip-Seq_Bcells_Human0.92546810
82TP53_23651856_ChIP-Seq_MEFs_Mouse0.92496027
83PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.92433190
84SMAD3_21741376_ChIP-Seq_HESCs_Human0.92426388
85GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92372240
86PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.91483854
87AHR_22903824_ChIP-Seq_MCF-7_Human0.91324795
88SMAD4_21799915_ChIP-Seq_A2780_Human0.90272570
89RUNX1_26923725_Chip-Seq_HPCs_Mouse0.89806944
90ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.89794326
91ARNT_22903824_ChIP-Seq_MCF-7_Human0.89458687
92ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.88975756
93SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.88406249
94CBX2_27304074_Chip-Seq_ESCs_Mouse0.88301378
95KDM2B_26808549_Chip-Seq_DND41_Human0.87310741
96* P300_27058665_Chip-Seq_ZR-75-30cells_Human0.86755755
97KLF4_19829295_ChIP-Seq_ESCs_Human0.86503313
98SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.86266902
99OCT4_19829295_ChIP-Seq_ESCs_Human0.85908128
100POU5F1_16518401_ChIP-PET_MESCs_Mouse0.85034358
101* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.84642015
102ESR1_20079471_ChIP-ChIP_T-47D_Human0.84598504
103TET1_21490601_ChIP-Seq_MESCs_Mouse0.83373005
104MYC_19915707_ChIP-ChIP_AK7_Human0.82581916
105ZNF263_19887448_ChIP-Seq_K562_Human0.80000784
106TP53_16413492_ChIP-PET_HCT116_Human0.79514453
107SMC4_20622854_ChIP-Seq_HELA_Human0.79164904
108CTNNB1_20460455_ChIP-Seq_HCT116_Human0.79142853
109SMAD_19615063_ChIP-ChIP_OVARY_Human0.78401729
110EGR1_19032775_ChIP-ChIP_M12_Human0.78398010
111NR3C1_21868756_ChIP-Seq_MCF10A_Human0.78119789
112CLOCK_20551151_ChIP-Seq_293T_Human0.77726551
113SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.77610310
114NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.77206140
115AR_25329375_ChIP-Seq_VCAP_Human0.76707316
116NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.76686364
117SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.76333143
118CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.74906800
119TBX20_22328084_ChIP-Seq_HEART_Mouse0.73576318
120TBX20_22080862_ChIP-Seq_HEART_Mouse0.73576318

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.43900517
2MP0004858_abnormal_nervous_system3.68801840
3MP0004885_abnormal_endolymph3.62990782
4* MP0003690_abnormal_glial_cell3.49392553
5* MP0003635_abnormal_synaptic_transmissio3.46394850
6MP0003880_abnormal_central_pattern3.17588977
7MP0003329_amyloid_beta_deposits2.96054850
8MP0005623_abnormal_meninges_morphology2.86538168
9MP0004270_analgesia2.84502588
10* MP0002064_seizures2.66825004
11* MP0002063_abnormal_learning/memory/cond2.55657440
12MP0005423_abnormal_somatic_nervous2.45993474
13* MP0009745_abnormal_behavioral_response2.40627508
14MP0009780_abnormal_chondrocyte_physiolo2.39273605
15MP0008569_lethality_at_weaning2.36871012
16MP0001486_abnormal_startle_reflex2.27558436
17* MP0003634_abnormal_glial_cell2.14295017
18MP0002909_abnormal_adrenal_gland2.07054599
19* MP0000920_abnormal_myelination2.04573785
20MP0002272_abnormal_nervous_system2.02384217
21MP0002572_abnormal_emotion/affect_behav1.91122648
22MP0009046_muscle_twitch1.86683272
23* MP0000778_abnormal_nervous_system1.82075639
24MP0000604_amyloidosis1.77214855
25MP0003632_abnormal_nervous_system1.74085706
26* MP0000955_abnormal_spinal_cord1.73377485
27* MP0003633_abnormal_nervous_system1.72948959
28MP0002734_abnormal_mechanical_nocicepti1.65871952
29MP0001968_abnormal_touch/_nociception1.65051395
30MP0003075_altered_response_to1.64617415
31* MP0005167_abnormal_blood-brain_barrier1.61449335
32MP0001501_abnormal_sleep_pattern1.61320476
33MP0002067_abnormal_sensory_capabilities1.57988309
34MP0001970_abnormal_pain_threshold1.56260191
35MP0001440_abnormal_grooming_behavior1.54753099
36* MP0003631_nervous_system_phenotype1.52953373
37MP0002733_abnormal_thermal_nociception1.49898596
38MP0002653_abnormal_ependyma_morphology1.43873323
39MP0005646_abnormal_pituitary_gland1.43859871
40* MP0004811_abnormal_neuron_physiology1.40784467
41MP0002736_abnormal_nociception_after1.38668249
42MP0003136_yellow_coat_color1.38513655
43MP0001958_emphysema1.37640443
44MP0002557_abnormal_social/conspecific_i1.32244698
45MP0002090_abnormal_vision1.31401346
46* MP0002882_abnormal_neuron_morphology1.29298161
47MP0001177_atelectasis1.26273312
48MP0003300_gastrointestinal_ulcer1.25298111
49MP0001299_abnormal_eye_distance/1.25204928
50MP0001485_abnormal_pinna_reflex1.22360816
51MP0002066_abnormal_motor_capabilities/c1.18703850
52MP0000751_myopathy1.16474052
53* MP0002152_abnormal_brain_morphology1.10193180
54MP0002089_abnormal_postnatal_growth/wei1.08873790
55MP0004742_abnormal_vestibular_system1.07471724
56MP0003283_abnormal_digestive_organ1.06647457
57MP0005171_absent_coat_pigmentation1.06485215
58MP0000534_abnormal_ureter_morphology1.06270882
59MP0002638_abnormal_pupillary_reflex1.05303152
60MP0004142_abnormal_muscle_tone1.03822607
61MP0002184_abnormal_innervation1.03084275
62MP0003122_maternal_imprinting1.01885344
63MP0002735_abnormal_chemical_nociception0.99298176
64MP0006276_abnormal_autonomic_nervous0.98961738
65MP0002249_abnormal_larynx_morphology0.97599077
66MP0001984_abnormal_olfaction0.95253915
67MP0009384_cardiac_valve_regurgitation0.91303131
68MP0001905_abnormal_dopamine_level0.90769028
69MP0000579_abnormal_nail_morphology0.88889699
70MP0003787_abnormal_imprinting0.88571575
71MP0003303_peritoneal_inflammation0.87059138
72MP0009379_abnormal_foot_pigmentation0.86988935
73MP0001963_abnormal_hearing_physiology0.85679201
74MP0002229_neurodegeneration0.82507343
75MP0004130_abnormal_muscle_cell0.81930595
76MP0004272_abnormal_basement_membrane0.81721724
77MP0003942_abnormal_urinary_system0.81636103
78MP0005386_behavior/neurological_phenoty0.80351440
79MP0004924_abnormal_behavior0.80351440
80MP0003172_abnormal_lysosome_physiology0.79338036
81MP0001849_ear_inflammation0.77967214
82MP0001502_abnormal_circadian_rhythm0.77650955
83MP0000026_abnormal_inner_ear0.76240312
84MP0005551_abnormal_eye_electrophysiolog0.73568119
85MP0003705_abnormal_hypodermis_morpholog0.72110685
86MP0000747_muscle_weakness0.71961900
87MP0005166_decreased_susceptibility_to0.71678988
88MP0005253_abnormal_eye_physiology0.71423963
89MP0001986_abnormal_taste_sensitivity0.70296726
90MP0005409_darkened_coat_color0.69432686
91MP0005645_abnormal_hypothalamus_physiol0.68742144
92MP0005394_taste/olfaction_phenotype0.68358261
93MP0005499_abnormal_olfactory_system0.68358261
94MP0005187_abnormal_penis_morphology0.67571826
95MP0010234_abnormal_vibrissa_follicle0.66816237
96MP0003091_abnormal_cell_migration0.66605824
97MP0001529_abnormal_vocalization0.65827817
98MP0006072_abnormal_retinal_apoptosis0.65595213
99MP0008961_abnormal_basal_metabolism0.65476479
100MP0004215_abnormal_myocardial_fiber0.65431737
101MP0005388_respiratory_system_phenotype0.64949520
102MP0002133_abnormal_respiratory_system0.64949520
103MP0000428_abnormal_craniofacial_morphol0.61101245
104MP0008874_decreased_physiological_sensi0.60902513
105MP0005535_abnormal_body_temperature0.60676805
106MP0000462_abnormal_digestive_system0.60389622
107MP0000013_abnormal_adipose_tissue0.60306169
108MP0001188_hyperpigmentation0.60161938
109MP0003123_paternal_imprinting0.59796287
110MP0003938_abnormal_ear_development0.59590642
111MP0003137_abnormal_impulse_conducting0.58204062
112MP0009250_abnormal_appendicular_skeleto0.57630748
113MP0000639_abnormal_adrenal_gland0.57465713
114MP0002752_abnormal_somatic_nervous0.56603710
115MP0001943_abnormal_respiration0.55707339
116MP0010769_abnormal_survival0.55597440
117MP0002069_abnormal_eating/drinking_beha0.55570517
118MP0002822_catalepsy0.55452052
119MP0003385_abnormal_body_wall0.54946392
120MP0003879_abnormal_hair_cell0.54520890
121MP0001348_abnormal_lacrimal_gland0.52431780
122MP0001731_abnormal_postnatal_growth0.52047414
123MP0009840_abnormal_foam_cell0.51678051
124MP0010768_mortality/aging0.51030434
125MP0003183_abnormal_peptide_metabolism0.50887179

Predicted human phenotypes

RankGene SetZ-score
1Megalencephaly (HP:0001355)6.32860983
2Myokymia (HP:0002411)4.66554470
3Supranuclear gaze palsy (HP:0000605)4.17305580
4Neurofibrillary tangles (HP:0002185)4.04763372
5Insomnia (HP:0100785)4.02046503
6Focal motor seizures (HP:0011153)3.81174967
7Action tremor (HP:0002345)3.79555850
8Abnormal eating behavior (HP:0100738)3.71540582
9Abnormality of cochlea (HP:0000375)3.58529099
10Cerebral inclusion bodies (HP:0100314)3.55662620
11Hemiplegia (HP:0002301)3.37187310
12Visual hallucinations (HP:0002367)3.36130253
13Peripheral hypomyelination (HP:0007182)3.29904112
14Hyperacusis (HP:0010780)3.23518925
15Anomalous pulmonary venous return (HP:0010772)3.20772439
16Febrile seizures (HP:0002373)3.20540619
17Overriding aorta (HP:0002623)3.19998183
18Intention tremor (HP:0002080)3.17151070
19Increased circulating renin level (HP:0000848)3.16087556
20Diplopia (HP:0000651)3.15994256
21Abnormality of binocular vision (HP:0011514)3.15994256
22Morphological abnormality of the inner ear (HP:0011390)3.09193238
23Shallow orbits (HP:0000586)3.05128892
24Renal duplication (HP:0000075)3.03934829
25Dysdiadochokinesis (HP:0002075)3.03398641
26Hemiparesis (HP:0001269)3.00757971
27Annular pancreas (HP:0001734)2.99668090
28Elfin facies (HP:0004428)2.98363638
29Progressive cerebellar ataxia (HP:0002073)2.96637212
30Focal seizures (HP:0007359)2.95903961
31Ankle clonus (HP:0011448)2.89817278
32Depression (HP:0000716)2.89691015
33Broad metatarsal (HP:0001783)2.87890122
34Split foot (HP:0001839)2.84228318
35Abnormality of the pulmonary veins (HP:0011718)2.77289909
36Cerebral hypomyelination (HP:0006808)2.75283151
37Aplasia involving bones of the upper limbs (HP:0009823)2.71640109
38Aplasia of the phalanges of the hand (HP:0009802)2.71640109
39Aplasia involving bones of the extremities (HP:0009825)2.71640109
40Renovascular hypertension (HP:0100817)2.69104297
41Postural instability (HP:0002172)2.64737608
42Akinesia (HP:0002304)2.63917333
43Abnormality of the diencephalon (HP:0010662)2.57658793
44Generalized tonic-clonic seizures (HP:0002069)2.55834695
45Sleep apnea (HP:0010535)2.51934994
46Flat cornea (HP:0007720)2.49032052
47Epileptic encephalopathy (HP:0200134)2.47887155
48Bundle branch block (HP:0011710)2.46118500
49Hyporeflexia of lower limbs (HP:0002600)2.45656962
50Abnormality of the corticospinal tract (HP:0002492)2.40980572
51Limb dystonia (HP:0002451)2.39379829
52Turricephaly (HP:0000262)2.38284676
53Mesangial abnormality (HP:0001966)2.36151610
54Bronchomalacia (HP:0002780)2.34233964
55Urinary urgency (HP:0000012)2.33810188
56Degeneration of the lateral corticospinal tracts (HP:0002314)2.33701225
57Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.33701225
58Polyphagia (HP:0002591)2.28452707
59Anxiety (HP:0000739)2.26554712
60Muscle fiber splitting (HP:0003555)2.25429421
61Torticollis (HP:0000473)2.24373276
62Dysmetria (HP:0001310)2.22332040
63Atonic seizures (HP:0010819)2.21751531
64Pointed chin (HP:0000307)2.21724156
65Truncus arteriosus (HP:0001660)2.20843680
66Bowel incontinence (HP:0002607)2.20307804
67Obstructive sleep apnea (HP:0002870)2.16423317
68Arnold-Chiari malformation (HP:0002308)2.13094405
69Alacrima (HP:0000522)2.13055148
70Absence seizures (HP:0002121)2.12557490
71Foot dorsiflexor weakness (HP:0009027)2.11982417
72Exercise-induced muscle cramps (HP:0003710)2.11720750
73Pheochromocytoma (HP:0002666)2.11695313
74Genetic anticipation (HP:0003743)2.11659342
75Spastic tetraparesis (HP:0001285)2.10746534
76Bladder diverticulum (HP:0000015)2.10016133
77Metabolic alkalosis (HP:0200114)2.09208579
78Impaired vibration sensation in the lower limbs (HP:0002166)2.08711046
79Focal dystonia (HP:0004373)2.07740059
80Humeroradial synostosis (HP:0003041)2.07420640
81Synostosis involving the elbow (HP:0003938)2.07420640
82Asymmetry of the thorax (HP:0001555)2.06021557
83Truncal ataxia (HP:0002078)2.05683515
84Urinary bladder sphincter dysfunction (HP:0002839)2.04217936
85Thickened helices (HP:0000391)2.03184441
86Clonus (HP:0002169)2.01578524
87Abnormal large intestine physiology (HP:0012700)1.99554312
88Lower limb muscle weakness (HP:0007340)1.98401985
89Congenital malformation of the right heart (HP:0011723)1.97380308
90Double outlet right ventricle (HP:0001719)1.97380308
91Papilledema (HP:0001085)1.97021173
92Abnormality of the foot musculature (HP:0001436)1.95286514
93Arterial tortuosity (HP:0005116)1.95204125
94Abnormality of the periventricular white matter (HP:0002518)1.94819413
95Postural tremor (HP:0002174)1.93113382
96Impaired social interactions (HP:0000735)1.90782387
97Abnormal social behavior (HP:0012433)1.90782387
98Rapidly progressive (HP:0003678)1.89397756
99Diminished motivation (HP:0000745)1.88652266
100Neoplasm of the peripheral nervous system (HP:0100007)1.88548545
101Stereotypic behavior (HP:0000733)1.88047506
102Enlarged penis (HP:0000040)1.87290821
103Ventricular fibrillation (HP:0001663)1.86184279
104Hyperparathyroidism (HP:0000843)1.86156517
105Choreoathetosis (HP:0001266)1.86152612
106Systemic lupus erythematosus (HP:0002725)1.85625947
107Craniofacial dystonia (HP:0012179)1.83494668
108Hypercortisolism (HP:0001578)1.83298510
109Muscle stiffness (HP:0003552)1.82728423
110Tetraplegia (HP:0002445)1.81983354
111Dialeptic seizures (HP:0011146)1.80961635
112Dementia (HP:0000726)1.80056741
113Hypokalemic alkalosis (HP:0001949)1.79428321
114Urethral obstruction (HP:0000796)1.78915791
115Severe global developmental delay (HP:0011344)1.77122709
116Neuronal loss in central nervous system (HP:0002529)1.77098718
117Insidious onset (HP:0003587)1.76697498
118Termporal pattern (HP:0011008)1.76697498
119Bowel diverticulosis (HP:0005222)1.76471033
120Spastic gait (HP:0002064)1.76327568
121Scanning speech (HP:0002168)1.75688342
122Clumsiness (HP:0002312)1.75556559
123Vascular tortuosity (HP:0004948)1.73787201
124Mutism (HP:0002300)1.72781079
125Increased cerebral lipofuscin (HP:0011813)1.72324617
126Bradykinesia (HP:0002067)1.68901927
127Deviation of the hallux (HP:0010051)1.68768597
128Poor eye contact (HP:0000817)1.66735980
129Neuroendocrine neoplasm (HP:0100634)1.66027923
130Rigidity (HP:0002063)1.65726101
131Achilles tendon contracture (HP:0001771)1.64735970
132Apathy (HP:0000741)1.64165963

Predicted kinase interactions (KEA)

RankGene SetZ-score
1LMTK24.73140891
2NTRK23.24652669
3PRKD33.09827238
4NTRK32.92744847
5PAK62.86540962
6MAP3K92.55541842
7PHKG22.43335783
8PHKG12.43335783
9MINK12.36335091
10CASK2.25480160
11MARK12.17651002
12PKN12.13824536
13KSR22.12457716
14EPHA42.11965952
15TRIB31.95305096
16NTRK11.86525837
17CAMKK11.80068144
18MAP3K41.78243159
19UHMK11.65840534
20WNK11.60655172
21TYRO31.58377869
22SIK11.47343393
23TNK21.45135327
24STK381.42911536
25CDK51.42456026
26PINK11.34573725
27PDGFRA1.30377035
28PRKCH1.29679791
29KSR11.28158258
30DDR21.24996272
31RET1.22826441
32BMX1.22260469
33DAPK21.21124208
34PLK21.17349465
35SGK4941.16961670
36SGK2231.16961670
37PKN21.14556476
38* ROCK21.14020770
39MAP2K41.13520526
40ALK1.10592512
41PRKCG1.09488644
42PAK31.08084235
43MAP3K21.05355913
44MAP2K71.03350824
45CDK191.02382308
46LATS21.02083353
47MARK21.01849984
48NEK11.00315092
49LIMK10.98860930
50MAPK120.98337245
51FES0.95682030
52FGFR20.93341077
53FER0.92793156
54DYRK1A0.91392959
55CDK140.89919651
56CDK150.88052720
57CDK180.84601120
58RIPK10.82368184
59MOS0.80897037
60PRPF4B0.80436006
61TNIK0.80396419
62SGK30.80179322
63MAP3K120.79668803
64EPHB10.78729988
65MAPK130.77456943
66CDK11A0.76874119
67GRK50.76275937
68NEK60.72954112
69* SGK10.72923315
70ARAF0.69803930
71MAPKAPK50.68628416
72SCYL20.67329988
73CSNK1G20.66771428
74FGR0.65966770
75STK110.65760515
76ICK0.64310355
77SGK20.63145291
78DMPK0.61600879
79CDC42BPA0.60281770
80PTK2B0.58849461
81FGFR10.58694768
82* ROCK10.58142685
83MAP3K130.57839790
84* CAMK2D0.57108818
85* CAMK2A0.56498658
86JAK20.54556425
87PTK60.53097500
88LRRK20.52921060
89FGFR30.52330448
90DAPK10.52148737
91MAP2K10.51928879
92FYN0.51739622
93PDPK10.50037514
94MAPK40.48570609
95FGFR40.48247313
96PRKCZ0.48174456
97RPS6KA30.48170581
98PRKCE0.47989546
99MAP3K10.47522716
100SIK20.46751742
101PRKD10.46019225
102SRC0.45136390
103ERBB20.44031337
104CAMK1G0.43026437
105RAF10.42880555
106CAMK10.42680331
107PDGFRB0.42435471
108MAP3K70.42052688
109PDK10.42041617
110PTK20.41964389
111EPHA30.41347753
112TESK10.40023853
113* MAPK100.38338961
114* CAMK2B0.38217202
115JAK10.37858569
116* CAMK2G0.37806302
117CAMK40.37233469
118BRSK10.36651665
119RPS6KB10.35603337
120ERBB40.33294099
121RIPK40.32941742
122CSNK1D0.32354181

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009104.72702414
2Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.72908448
3Synaptic vesicle cycle_Homo sapiens_hsa047212.61567916
4Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.53594148
5GABAergic synapse_Homo sapiens_hsa047272.20931304
6Gastric acid secretion_Homo sapiens_hsa049712.16120309
7Nicotine addiction_Homo sapiens_hsa050332.02326487
8Glutamatergic synapse_Homo sapiens_hsa047241.97649045
9Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.90390503
10Circadian entrainment_Homo sapiens_hsa047131.89485479
11Long-term potentiation_Homo sapiens_hsa047201.83795524
12Salivary secretion_Homo sapiens_hsa049701.75221013
13Olfactory transduction_Homo sapiens_hsa047401.74164589
14Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.66651416
15Insulin secretion_Homo sapiens_hsa049111.63937124
16Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.56635471
17Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.54329080
18Morphine addiction_Homo sapiens_hsa050321.50181187
19Amphetamine addiction_Homo sapiens_hsa050311.49387340
20Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.47769850
21Dopaminergic synapse_Homo sapiens_hsa047281.46357725
22Histidine metabolism_Homo sapiens_hsa003401.41251897
23Bile secretion_Homo sapiens_hsa049761.40649145
24Cholinergic synapse_Homo sapiens_hsa047251.32412238
25Vitamin B6 metabolism_Homo sapiens_hsa007501.32238690
26Renin secretion_Homo sapiens_hsa049241.23091719
27Aldosterone synthesis and secretion_Homo sapiens_hsa049251.20292764
28Long-term depression_Homo sapiens_hsa047301.17253533
29cAMP signaling pathway_Homo sapiens_hsa040241.17095418
30Gap junction_Homo sapiens_hsa045401.15815678
31Glioma_Homo sapiens_hsa052141.15167417
32Melanogenesis_Homo sapiens_hsa049161.11680103
33Oxytocin signaling pathway_Homo sapiens_hsa049211.10841135
34Carbohydrate digestion and absorption_Homo sapiens_hsa049731.08554328
35Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.06159658
36GnRH signaling pathway_Homo sapiens_hsa049121.05731963
37Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.03801809
38Axon guidance_Homo sapiens_hsa043601.03009296
39Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.98805230
40Cocaine addiction_Homo sapiens_hsa050300.98047101
41Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.96317156
42Thyroid hormone synthesis_Homo sapiens_hsa049180.93820869
43Calcium signaling pathway_Homo sapiens_hsa040200.93473539
44Prion diseases_Homo sapiens_hsa050200.92835847
45Arginine and proline metabolism_Homo sapiens_hsa003300.92660028
46Estrogen signaling pathway_Homo sapiens_hsa049150.92599092
47Dorso-ventral axis formation_Homo sapiens_hsa043200.91927893
48Fatty acid biosynthesis_Homo sapiens_hsa000610.89537803
49Phospholipase D signaling pathway_Homo sapiens_hsa040720.86371552
50beta-Alanine metabolism_Homo sapiens_hsa004100.84747301
51Thyroid hormone signaling pathway_Homo sapiens_hsa049190.84717537
52Dilated cardiomyopathy_Homo sapiens_hsa054140.83914638
53cGMP-PKG signaling pathway_Homo sapiens_hsa040220.81841358
54Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.81546608
55Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.76509320
56Mineral absorption_Homo sapiens_hsa049780.75562959
57Type II diabetes mellitus_Homo sapiens_hsa049300.75500826
58Pancreatic secretion_Homo sapiens_hsa049720.75475256
59ErbB signaling pathway_Homo sapiens_hsa040120.74916124
60Sphingolipid signaling pathway_Homo sapiens_hsa040710.74675634
61Inositol phosphate metabolism_Homo sapiens_hsa005620.74289294
62Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.73596611
63Neurotrophin signaling pathway_Homo sapiens_hsa047220.73376904
64Fatty acid metabolism_Homo sapiens_hsa012120.73371341
65Serotonergic synapse_Homo sapiens_hsa047260.73108525
66Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.71738938
67Cardiac muscle contraction_Homo sapiens_hsa042600.71713229
68Proteoglycans in cancer_Homo sapiens_hsa052050.70355576
69Arginine biosynthesis_Homo sapiens_hsa002200.69810112
70Renal cell carcinoma_Homo sapiens_hsa052110.69019675
71Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.68829026
72Phosphatidylinositol signaling system_Homo sapiens_hsa040700.67022529
73Hippo signaling pathway_Homo sapiens_hsa043900.65592367
74Taste transduction_Homo sapiens_hsa047420.65592130
75Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.65536864
76ECM-receptor interaction_Homo sapiens_hsa045120.65072302
77Vibrio cholerae infection_Homo sapiens_hsa051100.64378551
78Endometrial cancer_Homo sapiens_hsa052130.63161464
79Endocytosis_Homo sapiens_hsa041440.62382085
80Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.62365459
81Amoebiasis_Homo sapiens_hsa051460.61209321
82Wnt signaling pathway_Homo sapiens_hsa043100.60175729
83Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.59435754
84Rap1 signaling pathway_Homo sapiens_hsa040150.58607255
85Collecting duct acid secretion_Homo sapiens_hsa049660.58326955
86Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.57999571
87Protein digestion and absorption_Homo sapiens_hsa049740.57726580
88Notch signaling pathway_Homo sapiens_hsa043300.57639685
89Focal adhesion_Homo sapiens_hsa045100.57520792
90AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.56871898
91Glucagon signaling pathway_Homo sapiens_hsa049220.56472089
92Hedgehog signaling pathway_Homo sapiens_hsa043400.55150173
93VEGF signaling pathway_Homo sapiens_hsa043700.54079747
94Vascular smooth muscle contraction_Homo sapiens_hsa042700.52525772
95Circadian rhythm_Homo sapiens_hsa047100.52029667
96Choline metabolism in cancer_Homo sapiens_hsa052310.51511137
97MAPK signaling pathway_Homo sapiens_hsa040100.51506552
98Butanoate metabolism_Homo sapiens_hsa006500.51288020
99Basal cell carcinoma_Homo sapiens_hsa052170.51237863
100Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.50830396
101Ras signaling pathway_Homo sapiens_hsa040140.49909311
102Insulin signaling pathway_Homo sapiens_hsa049100.48182152
103Central carbon metabolism in cancer_Homo sapiens_hsa052300.46901263
104Regulation of actin cytoskeleton_Homo sapiens_hsa048100.46236120
105Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.45576788
106Non-small cell lung cancer_Homo sapiens_hsa052230.44680624
107Colorectal cancer_Homo sapiens_hsa052100.44607505
108Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.43945415
109Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.43549488
110Oocyte meiosis_Homo sapiens_hsa041140.42335274
111PPAR signaling pathway_Homo sapiens_hsa033200.41317596
112Tight junction_Homo sapiens_hsa045300.40910993
113mTOR signaling pathway_Homo sapiens_hsa041500.39093928
114Longevity regulating pathway - mammal_Homo sapiens_hsa042110.34806940
115Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.32419056
116AMPK signaling pathway_Homo sapiens_hsa041520.32240299
117Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.30774775
118Chronic myeloid leukemia_Homo sapiens_hsa052200.29878832
119Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.26454566

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