GAA

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 lysosomal alpha-glucosidase, which is essential for the degradation of glycogen to glucose in lysosomes. The encoded preproprotein is proteolytically processed to generate multiple intermediate forms and the mature form of the enzyme. Defects in this gene are the cause of glycogen storage disease II, also known as Pompe's disease, which is an autosomal recessive disorder with a broad clinical spectrum. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of short-term neuronal synaptic plasticity (GO:0048172)5.63817101
2synaptic vesicle maturation (GO:0016188)5.28307162
3locomotory exploration behavior (GO:0035641)5.01395734
4positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.94610537
5synaptic vesicle exocytosis (GO:0016079)4.63777490
6response to peptidoglycan (GO:0032494)4.23139745
7regulation of synaptic vesicle exocytosis (GO:2000300)4.22625059
8vocalization behavior (GO:0071625)4.20673852
9neurotransmitter secretion (GO:0007269)4.15204308
10proline transport (GO:0015824)4.11706185
11activation of protein kinase A activity (GO:0034199)4.02809935
12mannose metabolic process (GO:0006013)4.01664604
13glutamate secretion (GO:0014047)3.96705397
14regulation of glutamate receptor signaling pathway (GO:1900449)3.94902175
15gamma-aminobutyric acid transport (GO:0015812)3.88021071
16positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.87554695
17cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.83315450
18negative regulation of erythrocyte differentiation (GO:0045647)3.82770157
19synaptic vesicle endocytosis (GO:0048488)3.82187502
20regulation of synaptic vesicle transport (GO:1902803)3.82064980
21positive regulation of synaptic transmission, GABAergic (GO:0032230)3.80605723
22regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.79137325
23sodium ion export (GO:0071436)3.76450477
24exploration behavior (GO:0035640)3.75594336
25regulation of neuronal synaptic plasticity (GO:0048168)3.74249910
26cerebellar Purkinje cell layer development (GO:0021680)3.70122631
27macrophage activation involved in immune response (GO:0002281)3.67769187
28positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.65209742
29modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.60767223
30positive regulation by organism of defense response of other organism involved in symbiotic interact3.60767223
31modulation by symbiont of host immune response (GO:0052553)3.60767223
32positive regulation by symbiont of host defense response (GO:0052509)3.60767223
33modulation by symbiont of host defense response (GO:0052031)3.60767223
34modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.60767223
35cellular potassium ion homeostasis (GO:0030007)3.60263902
36glycosphingolipid catabolic process (GO:0046479)3.60034585
37cell communication by electrical coupling (GO:0010644)3.55217278
38negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.48752800
39regulation of long-term neuronal synaptic plasticity (GO:0048169)3.48417452
40detection of molecule of bacterial origin (GO:0032490)3.47282702
41neutrophil activation involved in immune response (GO:0002283)3.46961481
42* neuromuscular process controlling posture (GO:0050884)3.46956210
43neuronal action potential propagation (GO:0019227)3.46574142
44neuron cell-cell adhesion (GO:0007158)3.45051752
45ionotropic glutamate receptor signaling pathway (GO:0035235)3.44456617
46regulation of cAMP-dependent protein kinase activity (GO:2000479)3.43584627
47synaptic vesicle docking involved in exocytosis (GO:0016081)3.42999329
48regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.41911153
49neurotransmitter transport (GO:0006836)3.40500430
50layer formation in cerebral cortex (GO:0021819)3.39672553
51mating behavior (GO:0007617)3.37322554
52negative regulation of interleukin-12 production (GO:0032695)3.36990686
53regulation of synapse structural plasticity (GO:0051823)3.36794459
54glycine transport (GO:0015816)3.32009910
55pinocytosis (GO:0006907)3.29048317
56regulation of neurotransmitter levels (GO:0001505)3.25954156
57protein localization to synapse (GO:0035418)3.24926661
58* neuromuscular process controlling balance (GO:0050885)3.22754233
59barbed-end actin filament capping (GO:0051016)3.21591217
60glycolipid catabolic process (GO:0019377)3.18793989
61regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.18412999
62oligosaccharide catabolic process (GO:0009313)3.17955324
63protein localization to endosome (GO:0036010)3.15664359
64positive regulation of membrane protein ectodomain proteolysis (GO:0051044)3.14965556
65amino sugar catabolic process (GO:0046348)3.14378449
66membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.09670430
67response to muramyl dipeptide (GO:0032495)3.01936952
68detection of external biotic stimulus (GO:0098581)3.01747783
69lipopolysaccharide-mediated signaling pathway (GO:0031663)3.00734220
70detection of other organism (GO:0098543)3.00153222
71long-term memory (GO:0007616)2.99406793
72regulation of leukocyte degranulation (GO:0043300)2.98822615
73regulation of myeloid leukocyte mediated immunity (GO:0002886)2.98684343
74proline biosynthetic process (GO:0006561)2.95809637
75positive regulation of cellular amide metabolic process (GO:0034250)2.95567322
76regulation of glutamate secretion (GO:0014048)2.94109929
77cellular response to thyroid hormone stimulus (GO:0097067)2.93869891
78vesicle transport along microtubule (GO:0047496)2.93826518
79epithelial cell differentiation involved in prostate gland development (GO:0060742)2.93622563
80glutamate receptor signaling pathway (GO:0007215)2.92542579
81alanine transport (GO:0032328)2.89919497
82positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.88413211
83regulation of T-helper 2 cell differentiation (GO:0045628)2.88397715
84neuron recognition (GO:0008038)2.86835360
85regulation of female receptivity (GO:0045924)2.86721950
86synaptic transmission, glutamatergic (GO:0035249)2.85491508
87regulation of mast cell degranulation (GO:0043304)2.85086631
88dendritic spine morphogenesis (GO:0060997)2.84531496
89cell migration in hindbrain (GO:0021535)2.84395225
90negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.84203101
91negative regulation of cell killing (GO:0031342)2.84203101
92cerebellar Purkinje cell differentiation (GO:0021702)2.83532564
93regulation of extracellular matrix disassembly (GO:0010715)2.82379784
94regulation of excitatory postsynaptic membrane potential (GO:0060079)2.82305965
95neuronal ion channel clustering (GO:0045161)2.82100626
96detection of bacterium (GO:0016045)2.81840273
97* neuromuscular process (GO:0050905)2.81270943
98prepulse inhibition (GO:0060134)2.80668122
99regulation of vesicle fusion (GO:0031338)2.79138847
100transmission of nerve impulse (GO:0019226)2.78961463
101potassium ion import (GO:0010107)2.78259303
102axonal fasciculation (GO:0007413)2.77691700
103low-density lipoprotein particle clearance (GO:0034383)2.77671292
104neuron-neuron synaptic transmission (GO:0007270)2.76918028
105response to histamine (GO:0034776)2.76765549
106response to laminar fluid shear stress (GO:0034616)2.76512169
107detection of biotic stimulus (GO:0009595)2.76099317
108membrane depolarization during action potential (GO:0086010)2.76064271
109positive regulation of Cdc42 GTPase activity (GO:0043089)2.75882065
110regulation of postsynaptic membrane potential (GO:0060078)2.74317047
111regulation of synaptic plasticity (GO:0048167)2.73648901
112regulation of apoptotic cell clearance (GO:2000425)2.73317247
113negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.72778428
114regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.71972026
115positive regulation of gamma-delta T cell activation (GO:0046645)2.71437526
116regulation of cholesterol storage (GO:0010885)2.71132374
117regulation of respiratory system process (GO:0044065)2.70764512
118response to thyroid hormone (GO:0097066)2.68911815
119potassium ion homeostasis (GO:0055075)2.68842610
120amyloid precursor protein catabolic process (GO:0042987)2.68696218
121positive regulation of potassium ion transmembrane transport (GO:1901381)2.68546668
122female mating behavior (GO:0060180)2.68516001
123ceramide catabolic process (GO:0046514)2.67842446
124adhesion of symbiont to host (GO:0044406)2.67292259
125apoptotic cell clearance (GO:0043277)2.66876719
126organelle transport along microtubule (GO:0072384)2.64312945
127regulation of clathrin-mediated endocytosis (GO:2000369)2.64293005
128regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.63666922
129response to auditory stimulus (GO:0010996)2.63461772
130regulation of interferon-beta biosynthetic process (GO:0045357)2.62643645
131dopamine receptor signaling pathway (GO:0007212)2.62553214
132positive regulation of leukocyte degranulation (GO:0043302)2.62544640
133cellular sodium ion homeostasis (GO:0006883)2.62542739
134positive regulation of myeloid leukocyte mediated immunity (GO:0002888)2.62256573
135positive regulation of membrane potential (GO:0045838)2.62203493
136macrophage activation (GO:0042116)2.61849518
137neurotransmitter catabolic process (GO:0042135)2.61318901
138positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.60828417
139oxygen transport (GO:0015671)2.60744315
140negative regulation of amino acid transport (GO:0051956)2.60606119
141neurotransmitter-gated ion channel clustering (GO:0072578)2.60312529
142cell-cell junction maintenance (GO:0045217)2.60285583
143immunoglobulin mediated immune response (GO:0016064)2.59837950
144positive regulation of phagocytosis (GO:0050766)2.59213677
145gamma-aminobutyric acid signaling pathway (GO:0007214)2.59159965
146response to parathyroid hormone (GO:0071107)2.58184666
147positive regulation of receptor recycling (GO:0001921)2.57759514
148positive regulation of extracellular matrix organization (GO:1903055)2.57607792
149germinal center formation (GO:0002467)2.56911503
150N-acetylneuraminate metabolic process (GO:0006054)2.56389310
151intraspecies interaction between organisms (GO:0051703)2.56051820
152social behavior (GO:0035176)2.56051820
153stress fiber assembly (GO:0043149)2.55586958
154signal complex assembly (GO:0007172)2.54729816
155regulation of beta-amyloid formation (GO:1902003)2.54594597
156signal release (GO:0023061)2.54484066
157regulation of synaptic transmission, GABAergic (GO:0032228)2.54270501
158regulation of membrane protein ectodomain proteolysis (GO:0051043)2.54093814
159suckling behavior (GO:0001967)2.53849586
160regulation of amyloid precursor protein catabolic process (GO:1902991)2.53824269
161regulation of early endosome to late endosome transport (GO:2000641)2.53675768
162peptide catabolic process (GO:0043171)2.52815470
163establishment of synaptic vesicle localization (GO:0097480)2.52503480
164synaptic vesicle transport (GO:0048489)2.52503480
165negative regulation of cytokine production involved in immune response (GO:0002719)2.51464665
166semaphorin-plexin signaling pathway (GO:0071526)2.50156037
167regulation of mast cell activation involved in immune response (GO:0033006)2.49722226
168modulation by symbiont of host cellular process (GO:0044068)2.48485016
169virion attachment to host cell (GO:0019062)2.48194398
170adhesion of symbiont to host cell (GO:0044650)2.48194398
171glucose 6-phosphate metabolic process (GO:0051156)2.46316409
172positive regulation of cholesterol efflux (GO:0010875)2.45670090
173basement membrane organization (GO:0071711)2.44549208
174regulation of superoxide anion generation (GO:0032928)2.43545789
175NIK/NF-kappaB signaling (GO:0038061)2.41467788
176hyaluronan catabolic process (GO:0030214)2.38575757
177regulation of macrophage chemotaxis (GO:0010758)2.38358761
178adenosine receptor signaling pathway (GO:0001973)2.38250156
179myeloid dendritic cell differentiation (GO:0043011)2.36733335
180regulation of regulated secretory pathway (GO:1903305)2.36255739
181regulation of extracellular matrix organization (GO:1903053)2.36005520
182sphingolipid catabolic process (GO:0030149)2.35098792
183membrane lipid catabolic process (GO:0046466)2.33920866
184antigen processing and presentation of endogenous antigen (GO:0019883)2.32649957
185T-helper 1 type immune response (GO:0042088)2.31554594
186complement activation, alternative pathway (GO:0006957)2.31489810
187antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.30905267
188regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.30582431
189regulation of mononuclear cell migration (GO:0071675)2.30348225
190cellular extravasation (GO:0045123)2.30173911
191antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.29552398
192negative regulation of granulocyte differentiation (GO:0030853)2.29020809
193regulation of phagocytosis (GO:0050764)2.28143139
194granulocyte activation (GO:0036230)2.28072154
195positive regulation of lipoprotein lipase activity (GO:0051006)2.25480864
196positive regulation of triglyceride lipase activity (GO:0061365)2.25480864
197positive regulation of mast cell degranulation (GO:0043306)2.24589010
198positive regulation of mast cell activation involved in immune response (GO:0033008)2.24589010
199protein retention in ER lumen (GO:0006621)2.23993220

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human4.56780776
2NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human3.20928987
3EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.80726121
4CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.76986316
5ERG_21242973_ChIP-ChIP_JURKAT_Human2.73474515
6REST_21632747_ChIP-Seq_MESCs_Mouse2.66334547
7VDR_21846776_ChIP-Seq_THP-1_Human2.65838953
8TP63_17297297_ChIP-ChIP_HaCaT_Human2.64261834
9RARG_19884340_ChIP-ChIP_MEFs_Mouse2.60613583
10RARB_27405468_Chip-Seq_BRAIN_Mouse2.60406630
11SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.53806093
12SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.53461306
13REST_18959480_ChIP-ChIP_MESCs_Mouse2.40905002
14ELK3_25401928_ChIP-Seq_HUVEC_Human2.39337906
15NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.37667031
16JARID2_20075857_ChIP-Seq_MESCs_Mouse2.32278206
17DROSHA_22980978_ChIP-Seq_HELA_Human2.30560748
18MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.29898283
19SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.28457721
20MTF2_20144788_ChIP-Seq_MESCs_Mouse2.28018737
21EZH2_18974828_ChIP-Seq_MESCs_Mouse2.22445907
22RNF2_18974828_ChIP-Seq_MESCs_Mouse2.22445907
23IKZF1_21737484_ChIP-ChIP_HCT116_Human2.21272152
24JARID2_20064375_ChIP-Seq_MESCs_Mouse2.20574709
25SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.11311850
26IRF8_22096565_ChIP-ChIP_GC-B_Human2.09974965
27* ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.05512162
28KDM2B_26808549_Chip-Seq_SIL-ALL_Human2.03746880
29SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.03036348
30SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.02633099
31ZFP281_18757296_ChIP-ChIP_E14_Mouse2.01801465
32NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.00801959
33SUZ12_27294783_Chip-Seq_ESCs_Mouse2.00760000
34SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.00134321
35PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.99823725
36BP1_19119308_ChIP-ChIP_Hs578T_Human1.95945327
37VDR_24763502_ChIP-Seq_THP-1_Human1.95214455
38NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.94643354
39* TCF7_22412390_ChIP-Seq_EML_Mouse1.93111090
40ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.90623239
41EZH2_27304074_Chip-Seq_ESCs_Mouse1.88276751
42IRF8_21731497_ChIP-ChIP_J774_Mouse1.87687038
43ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.84817146
44EZH2_27294783_Chip-Seq_ESCs_Mouse1.84022786
45RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.83947733
46RNF2_27304074_Chip-Seq_ESCs_Mouse1.80669319
47GBX2_23144817_ChIP-Seq_PC3_Human1.80148214
48IRF8_27001747_Chip-Seq_BMDM_Mouse1.78834672
49MYC_22102868_ChIP-Seq_BL_Human1.78300823
50EED_16625203_ChIP-ChIP_MESCs_Mouse1.76115357
51DNAJC2_21179169_ChIP-ChIP_NT2_Human1.75835944
52LXR_22292898_ChIP-Seq_THP-1_Human1.71280169
53TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.70104573
54SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.69176920
55ESR1_15608294_ChIP-ChIP_MCF-7_Human1.67709954
56KDM2B_26808549_Chip-Seq_K562_Human1.67607191
57* RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.66839298
58TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.66447921
59MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.65239533
60BRD4_27068464_Chip-Seq_AML-cells_Mouse1.62687298
61EGR1_19374776_ChIP-ChIP_THP-1_Human1.62293764
62* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.61092809
63* RXR_22158963_ChIP-Seq_LIVER_Mouse1.57398602
64RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.53907783
65PPARA_22158963_ChIP-Seq_LIVER_Mouse1.52971543
66ZNF274_21170338_ChIP-Seq_K562_Hela1.51341722
67TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.48573961
68MYB_21317192_ChIP-Seq_ERMYB_Mouse1.48559811
69SPI1_23127762_ChIP-Seq_K562_Human1.48542843
70CLOCK_20551151_ChIP-Seq_293T_Human1.48488308
71VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.47561573
72RUNX1_22412390_ChIP-Seq_EML_Mouse1.45972027
73E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.44938299
74RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.43755734
75CTCF_27219007_Chip-Seq_Bcells_Human1.38989173
76* TET1_21490601_ChIP-Seq_MESCs_Mouse1.37533534
77KDM2B_26808549_Chip-Seq_SUP-B15_Human1.35650200
78AR_21572438_ChIP-Seq_LNCaP_Human1.35545612
79CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.35171740
80Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.35077895
81ESR1_21235772_ChIP-Seq_MCF-7_Human1.34274174
82* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.33890230
83GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.33840781
84MAF_26560356_Chip-Seq_TH1_Human1.32611799
85ZFP281_27345836_Chip-Seq_ESCs_Mouse1.32430723
86GATA1_19941827_ChIP-Seq_MEL_Mouse1.32268776
87FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.32135300
88KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.32132718
89SA1_27219007_Chip-Seq_ERYTHROID_Human1.31839429
90* RING1B_27294783_Chip-Seq_ESCs_Mouse1.30762863
91SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.29068313
92KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.28972245
93THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.28953136
94PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.28533181
95RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.26917022
96CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.23820779
97PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.23315577
98TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.22331607
99CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.21435220
100CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.20570956
101WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.19864965
102TP53_20018659_ChIP-ChIP_R1E_Mouse1.19853475
103GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.18430748
104SMC4_20622854_ChIP-Seq_HELA_Human1.17518510
105SRY_22984422_ChIP-ChIP_TESTIS_Rat1.17273639
106TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.17050036
107MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.16950136
108WT1_25993318_ChIP-Seq_PODOCYTE_Human1.15991687
109STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.15923856
110KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.15201091
111ESR2_21235772_ChIP-Seq_MCF-7_Human1.14165622
112TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.12561369
113STAT4_19710469_ChIP-ChIP_TH1__Mouse1.12326657
114ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.12195273
115* RING1B_27294783_Chip-Seq_NPCs_Mouse1.11878348
116UTX_26944678_Chip-Seq_JUKART_Human1.11395197
117* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.11352192
118PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.10930240
119RUNX1_27514584_Chip-Seq_MCF-7_Human1.10431145
120* BCOR_27268052_Chip-Seq_Bcells_Human1.09202591
121MAF_26560356_Chip-Seq_TH2_Human1.08803857
122ELF1_20517297_ChIP-Seq_JURKAT_Human1.08029995
123CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.07943580
124TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.06265113
125TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.06126262
126AR_19668381_ChIP-Seq_PC3_Human1.04874477
127KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.04843020
128ZNF263_19887448_ChIP-Seq_K562_Human1.03496644
129* BCL6_27268052_Chip-Seq_Bcells_Human1.03380203
130KDM2B_26808549_Chip-Seq_DND41_Human1.01624924
131CREB1_26743006_Chip-Seq_LNCaP_Human1.01565026
132NCOR1_26117541_ChIP-Seq_K562_Human1.00768948
133TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.00385871
134OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.00248999
135NFIB_24661679_ChIP-Seq_LUNG_Mouse0.99969035
136KLF4_19829295_ChIP-Seq_ESCs_Human0.99882192
137P63_26484246_Chip-Seq_KERATINOCYTES_Human0.99761281
138SPI1_23547873_ChIP-Seq_NB4_Human0.98690293
139LXR_22158963_ChIP-Seq_LIVER_Mouse0.98537544
140CTBP2_25329375_ChIP-Seq_LNCAP_Human0.98251727
141SOX2_21211035_ChIP-Seq_LN229_Gbm0.98018068
142SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.97904480
143DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.97834331
144PU.1_20513432_ChIP-Seq_Bcells_Mouse0.97354614
145* OCT4_19829295_ChIP-Seq_ESCs_Human0.96602771
146TET1_21451524_ChIP-Seq_MESCs_Mouse0.94530815
147NR3C1_23031785_ChIP-Seq_PC12_Mouse0.94121449
148* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.93237190
149KDM2B_26808549_Chip-Seq_JURKAT_Human0.92536390
150MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human0.92472869
151TRIM28_21343339_ChIP-Seq_HEK293_Human0.89788897
152CTBP1_25329375_ChIP-Seq_LNCAP_Human0.89604768
153* RACK7_27058665_Chip-Seq_MCF-7_Human0.87796389
154NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.86421191
155SMAD4_21799915_ChIP-Seq_A2780_Human0.86118457
156POU5F1_16518401_ChIP-PET_MESCs_Mouse0.85365799
157SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84972987
158PHC1_16625203_ChIP-ChIP_MESCs_Mouse0.83698005
159TP53_23651856_ChIP-Seq_MEFs_Mouse0.82387710
160SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.79868722
161SMAD4_21741376_ChIP-Seq_ESCs_Human0.77958795
162STAT6_21828071_ChIP-Seq_BEAS2B_Human0.77888411
163P68_20966046_ChIP-Seq_HELA_Human0.77723521
164TP63_22573176_ChIP-Seq_HFKS_Human0.77070056
165* SIN3B_21632747_ChIP-Seq_MESCs_Mouse0.76995862
166SMAD3_21741376_ChIP-Seq_ESCs_Human0.76109264
167MYC_27129775_Chip-Seq_CORNEA_Mouse0.76001594
168UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.75709644
169P300_27058665_Chip-Seq_ZR-75-30cells_Human0.75470315
170ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.73318214
171SOX2_18358816_ChIP-ChIP_MESCs_Mouse0.72823330

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.34525367
2* MP0005058_abnormal_lysosome_morphology4.74066898
3MP0003635_abnormal_synaptic_transmissio3.58385978
4MP0003880_abnormal_central_pattern3.58043229
5MP0003303_peritoneal_inflammation3.50640288
6MP0009840_abnormal_foam_cell3.22124368
7MP0003122_maternal_imprinting3.19735069
8MP0003436_decreased_susceptibility_to3.19454527
9MP0009046_muscle_twitch2.95948366
10MP0002064_seizures2.94556012
11MP0005645_abnormal_hypothalamus_physiol2.88167651
12MP0009745_abnormal_behavioral_response2.84353507
13MP0003705_abnormal_hypodermis_morpholog2.82893902
14MP0003283_abnormal_digestive_organ2.81679453
15MP0002063_abnormal_learning/memory/cond2.79467038
16MP0003191_abnormal_cellular_cholesterol2.61278233
17MP0002822_catalepsy2.58179113
18MP0006082_CNS_inflammation2.56234673
19MP0002572_abnormal_emotion/affect_behav2.54553659
20MP0005451_abnormal_body_composition2.52822041
21MP0002909_abnormal_adrenal_gland2.50069178
22MP0003724_increased_susceptibility_to2.48458687
23MP0003300_gastrointestinal_ulcer2.45356626
24MP0001968_abnormal_touch/_nociception2.36756480
25MP0004270_analgesia2.32159092
26MP0008260_abnormal_autophagy2.26097544
27MP0005423_abnormal_somatic_nervous2.25882178
28MP0002419_abnormal_innate_immunity2.25843099
29MP0004233_abnormal_muscle_weight2.21904267
30MP0001501_abnormal_sleep_pattern2.16720536
31MP0002272_abnormal_nervous_system2.15639391
32MP0002733_abnormal_thermal_nociception2.12845605
33MP0004510_myositis2.12490143
34MP0000013_abnormal_adipose_tissue2.06945015
35MP0004858_abnormal_nervous_system2.03192074
36MP0001533_abnormal_skeleton_physiology1.99159422
37MP0001440_abnormal_grooming_behavior1.96278231
38MP0006276_abnormal_autonomic_nervous1.96083488
39MP0009780_abnormal_chondrocyte_physiolo1.95920998
40MP0009278_abnormal_bone_marrow1.92770976
41MP0001970_abnormal_pain_threshold1.88685853
42MP0005025_abnormal_response_to1.86850077
43MP0003329_amyloid_beta_deposits1.85473664
44MP0002139_abnormal_hepatobiliary_system1.80413310
45MP0002998_abnormal_bone_remodeling1.79868917
46MP0008438_abnormal_cutaneous_collagen1.79307862
47MP0005646_abnormal_pituitary_gland1.78239322
48MP0005076_abnormal_cell_differentiation1.77238198
49MP0002734_abnormal_mechanical_nocicepti1.75011046
50MP0002148_abnormal_hypersensitivity_rea1.74484510
51MP0003172_abnormal_lysosome_physiology1.72424421
52MP0009785_altered_susceptibility_to1.71062320
53MP0000858_altered_metastatic_potential1.68647750
54MP0001486_abnormal_startle_reflex1.67880955
55MP0001835_abnormal_antigen_presentation1.66792147
56MP0003453_abnormal_keratinocyte_physiol1.65158949
57MP0001502_abnormal_circadian_rhythm1.63869406
58MP0001849_ear_inflammation1.62805068
59MP0002254_reproductive_system_inflammat1.62527086
60MP0002067_abnormal_sensory_capabilities1.60234740
61MP0005000_abnormal_immune_tolerance1.59177494
62MP0003123_paternal_imprinting1.58532629
63MP0001790_abnormal_immune_system1.57864473
64MP0005387_immune_system_phenotype1.57864473
65MP0004947_skin_inflammation1.57627797
66MP0002736_abnormal_nociception_after1.55722841
67MP0000343_altered_response_to1.54878252
68MP0004924_abnormal_behavior1.54538124
69MP0005386_behavior/neurological_phenoty1.54538124
70MP0000685_abnormal_immune_system1.53753203
71MP0004811_abnormal_neuron_physiology1.52468022
72MP0002837_dystrophic_cardiac_calcinosis1.52351865
73MP0004142_abnormal_muscle_tone1.50919799
74MP0003566_abnormal_cell_adhesion1.50293274
75MP0005464_abnormal_platelet_physiology1.43915479
76MP0000955_abnormal_spinal_cord1.42510038
77MP0008569_lethality_at_weaning1.41628560
78MP0003279_aneurysm1.41153233
79MP0005623_abnormal_meninges_morphology1.40389401
80MP0001958_emphysema1.39533163
81MP0008961_abnormal_basal_metabolism1.38300591
82MP0003091_abnormal_cell_migration1.37861124
83MP0004145_abnormal_muscle_electrophysio1.37304858
84MP0002184_abnormal_innervation1.34940598
85MP0003633_abnormal_nervous_system1.34591080
86MP0002557_abnormal_social/conspecific_i1.34512503
87* MP0002066_abnormal_motor_capabilities/c1.31845942
88MP0002452_abnormal_antigen_presenting1.30721833
89MP0002735_abnormal_chemical_nociception1.29057064
90MP0003183_abnormal_peptide_metabolism1.28729260
91MP0008004_abnormal_stomach_pH1.28270976
92MP0002723_abnormal_immune_serum1.26190017
93MP0005257_abnormal_intraocular_pressure1.25772650
94MP0004885_abnormal_endolymph1.24760367
95MP0003045_fibrosis1.22989699
96MP0003828_pulmonary_edema1.22827218
97MP0008469_abnormal_protein_level1.22462057
98MP0005171_absent_coat_pigmentation1.20721127
99MP0005365_abnormal_bile_salt1.19542455
100* MP0000751_myopathy1.18416491
101MP0001845_abnormal_inflammatory_respons1.16732198
102MP0005671_abnormal_response_to1.16244056
103MP0003787_abnormal_imprinting1.15364901
104MP0000639_abnormal_adrenal_gland1.13810125
105MP0005409_darkened_coat_color1.13306701
106MP0003075_altered_response_to1.13078691
107MP0010155_abnormal_intestine_physiology1.12136250
108MP0002882_abnormal_neuron_morphology1.11752011
109MP0001853_heart_inflammation1.11220243
110MP0005390_skeleton_phenotype1.10615751
111MP0003448_altered_tumor_morphology1.10319973
112MP0005360_urolithiasis1.09885606
113MP0005166_decreased_susceptibility_to1.09311905
114MP0001819_abnormal_immune_cell1.09022743
115MP0002420_abnormal_adaptive_immunity1.07842933
116MP0004130_abnormal_muscle_cell1.07519036
117MP0002405_respiratory_system_inflammati1.07399279
118MP0003879_abnormal_hair_cell1.07028975
119MP0002933_joint_inflammation1.06658982
120MP0001800_abnormal_humoral_immune1.06511683
121MP0005023_abnormal_wound_healing1.06109650
122MP0004883_abnormal_blood_vessel1.05983988
123MP0005164_abnormal_response_to1.04969287
124MP0000920_abnormal_myelination1.04583938
125MP0002877_abnormal_melanocyte_morpholog1.04036683
126MP0005397_hematopoietic_system_phenotyp1.03925916
127MP0001545_abnormal_hematopoietic_system1.03925916
128MP0001529_abnormal_vocalization1.03689328
129MP0003634_abnormal_glial_cell1.00774962
130MP0006072_abnormal_retinal_apoptosis1.00737514
131MP0000767_abnormal_smooth_muscle1.00467305
132MP0003631_nervous_system_phenotype0.99547897
133MP0009333_abnormal_splenocyte_physiolog0.98003069
134MP0008874_decreased_physiological_sensi0.97002753
135MP0005535_abnormal_body_temperature0.96280053
136MP0000778_abnormal_nervous_system0.95151040
137MP0003690_abnormal_glial_cell0.94808916
138MP0002069_abnormal_eating/drinking_beha0.94720462
139MP0006054_spinal_hemorrhage0.94496454
140MP0009764_decreased_sensitivity_to0.94077800
141MP0001905_abnormal_dopamine_level0.92818186
142MP0000003_abnormal_adipose_tissue0.90764459
143MP0010234_abnormal_vibrissa_follicle0.89470397
144MP0002896_abnormal_bone_mineralization0.89068997
145* MP0002269_muscular_atrophy0.87138071
146MP0003795_abnormal_bone_structure0.86935534
147MP0002152_abnormal_brain_morphology0.86786844
148MP0000249_abnormal_blood_vessel0.85076474
149MP0008872_abnormal_physiological_respon0.84189441
150MP0005666_abnormal_adipose_tissue0.83761574
151MP0003121_genomic_imprinting0.83378888
152MP0003646_muscle_fatigue0.82699468
153MP0001915_intracranial_hemorrhage0.82618212
154MP0001851_eye_inflammation0.82299740
155MP0002229_neurodegeneration0.80868762
156MP0005310_abnormal_salivary_gland0.79816838
157* MP0000747_muscle_weakness0.79661050
158MP0000604_amyloidosis0.77988796
159MP0005165_increased_susceptibility_to0.77811278
160MP0000678_abnormal_parathyroid_gland0.76377218
161MP0005167_abnormal_blood-brain_barrier0.75424564
162MP0001542_abnormal_bone_strength0.75015489
163MP0004085_abnormal_heartbeat0.74455594
164MP0004185_abnormal_adipocyte_glucose0.74043758
165MP0005375_adipose_tissue_phenotype0.73839107
166MP0010386_abnormal_urinary_bladder0.72485403
167MP0005448_abnormal_energy_balance0.72410873
168MP0000716_abnormal_immune_system0.71636735
169MP0002653_abnormal_ependyma_morphology0.71608339
170MP0002108_abnormal_muscle_morphology0.71467238
171MP0001984_abnormal_olfaction0.69821822
172MP0000609_abnormal_liver_physiology0.69086521
173MP0004036_abnormal_muscle_relaxation0.68709823
174MP0002332_abnormal_exercise_endurance0.67162185
175MP0003959_abnormal_lean_body0.66607890
176MP0001943_abnormal_respiration0.63869669
177MP0001299_abnormal_eye_distance/0.63865025
178MP0004133_heterotaxia0.63700318
179MP0004215_abnormal_myocardial_fiber0.63317215
180MP0003953_abnormal_hormone_level0.62963521
181* MP0003137_abnormal_impulse_conducting0.62848833
182MP0000681_abnormal_thyroid_gland0.62252311
183MP0004381_abnormal_hair_follicle0.59973396
184MP0002060_abnormal_skin_morphology0.59798268
185* MP0002078_abnormal_glucose_homeostasis0.59360706
186MP0008877_abnormal_DNA_methylation0.58312325
187MP0000631_abnormal_neuroendocrine_gland0.58237999
188MP0002089_abnormal_postnatal_growth/wei0.57487285
189MP0003632_abnormal_nervous_system0.54321118

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of glycolipid metabolism (HP:0010969)5.37420946
2Abnormality of liposaccharide metabolism (HP:0010968)5.37420946
3Abnormality of glycosphingolipid metabolism (HP:0004343)5.37420946
4Myokymia (HP:0002411)5.11917651
5Focal motor seizures (HP:0011153)5.09735245
6Visual hallucinations (HP:0002367)4.79854480
7Systemic lupus erythematosus (HP:0002725)4.75294326
8Increased cerebral lipofuscin (HP:0011813)4.21258214
9Focal seizures (HP:0007359)4.20930164
10Atonic seizures (HP:0010819)4.19438041
11Abnormality of macrophages (HP:0004311)3.76923775
12Vacuolated lymphocytes (HP:0001922)3.73838965
13Absence seizures (HP:0002121)3.69070108
14Hypercortisolism (HP:0001578)3.59992933
15Turricephaly (HP:0000262)3.57515710
16Loss of speech (HP:0002371)3.52243705
17Increased neuronal autofluorescent lipopigment (HP:0002074)3.43765509
18Eczematoid dermatitis (HP:0000976)3.35318362
19Glomerulonephritis (HP:0000099)3.35146201
20Failure to thrive in infancy (HP:0001531)3.30398741
21Pheochromocytoma (HP:0002666)3.28256005
22Supranuclear gaze palsy (HP:0000605)3.27680002
23Dialeptic seizures (HP:0011146)3.22195059
24Generalized tonic-clonic seizures (HP:0002069)3.16950069
25Complement deficiency (HP:0004431)3.13251959
26Febrile seizures (HP:0002373)3.11391992
27Deep venous thrombosis (HP:0002625)3.07046918
28Action tremor (HP:0002345)3.04780854
29Annular pancreas (HP:0001734)3.04048107
30Recurrent abscess formation (HP:0002722)3.03612389
31Epileptic encephalopathy (HP:0200134)3.03172670
32Axonal loss (HP:0003447)3.02884757
33Depression (HP:0000716)3.01188166
34Abnormality of complement system (HP:0005339)2.98584603
35Recurrent gram-negative bacterial infections (HP:0005420)2.96608552
36Abnormality of the lower motor neuron (HP:0002366)2.92984399
37Vertebral compression fractures (HP:0002953)2.91987685
38Amyloidosis (HP:0011034)2.91894806
39Growth hormone excess (HP:0000845)2.91874316
40Recurrent bacterial skin infections (HP:0005406)2.91644607
41Nuclear cataract (HP:0100018)2.90098112
42Abnormal eating behavior (HP:0100738)2.84665721
43Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.83872094
44Exercise-induced myalgia (HP:0003738)2.83141306
45Ankle clonus (HP:0011448)2.81367807
46Narrow nasal bridge (HP:0000446)2.79313856
47J-shaped sella turcica (HP:0002680)2.75420065
48Purpura (HP:0000979)2.72881917
49Neuroendocrine neoplasm (HP:0100634)2.71930633
50Menstrual irregularities (HP:0000858)2.70800338
51Anxiety (HP:0000739)2.70489835
52Postural instability (HP:0002172)2.68042540
53Dysdiadochokinesis (HP:0002075)2.66576613
54Ventricular fibrillation (HP:0001663)2.65462303
55Dysostosis multiplex (HP:0000943)2.62597680
56Mucopolysacchariduria (HP:0008155)2.58716274
57Urinary glycosaminoglycan excretion (HP:0003541)2.58716274
58Polyphagia (HP:0002591)2.57551202
59Hypoventilation (HP:0002791)2.57292713
60Orchitis (HP:0100796)2.53920510
61Myositis (HP:0100614)2.50537486
62Progressive cerebellar ataxia (HP:0002073)2.49804342
63Agitation (HP:0000713)2.48556938
64Cervical subluxation (HP:0003308)2.47006633
65Disinhibition (HP:0000734)2.46036964
66Abnormality of mucopolysaccharide metabolism (HP:0011020)2.44002946
67Abnormality of polysaccharide metabolism (HP:0011012)2.44002946
68Abnormality of glycosaminoglycan metabolism (HP:0004371)2.44002946
69Status epilepticus (HP:0002133)2.39846416
70Myocardial infarction (HP:0001658)2.39451127
71Cerebral inclusion bodies (HP:0100314)2.38670170
72Protrusio acetabuli (HP:0003179)2.37043268
73Interstitial pulmonary disease (HP:0006530)2.36847177
74Mutism (HP:0002300)2.32974194
75Oligomenorrhea (HP:0000876)2.32569755
76Impaired social interactions (HP:0000735)2.30375154
77Abnormal social behavior (HP:0012433)2.30375154
78Neurofibrillary tangles (HP:0002185)2.29788467
79Hemiplegia (HP:0002301)2.29367519
80Dysmetria (HP:0001310)2.28853742
81Thin bony cortex (HP:0002753)2.28007233
82Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.27379721
83Bradykinesia (HP:0002067)2.27016979
84Upper motor neuron abnormality (HP:0002127)2.25416403
85Hemorrhage of the eye (HP:0011885)2.24730693
86Pathologic fracture (HP:0002756)2.22114542
87Gingivitis (HP:0000230)2.19923195
88Impaired vibration sensation in the lower limbs (HP:0002166)2.18822015
89Poor eye contact (HP:0000817)2.18813686
90Torticollis (HP:0000473)2.18684058
91Truncal ataxia (HP:0002078)2.17300632
92Thoracic kyphosis (HP:0002942)2.16815097
93Rapidly progressive (HP:0003678)2.16776906
94Increased serum ferritin (HP:0003281)2.14573312
95Apathy (HP:0000741)2.13402529
96Distal lower limb muscle weakness (HP:0009053)2.12296558
97Mediastinal lymphadenopathy (HP:0100721)2.11102809
98Asymmetric septal hypertrophy (HP:0001670)2.10709003
99Papilledema (HP:0001085)2.08870104
100Diminished motivation (HP:0000745)2.08855345
101Progressive neurologic deterioration (HP:0002344)2.08415071
102Joint stiffness (HP:0001387)2.07661527
103Urinary bladder sphincter dysfunction (HP:0002839)2.06470223
104Psychosis (HP:0000709)2.05479294
105Optic neuritis (HP:0100653)2.04838498
106Retrobulbar optic neuritis (HP:0100654)2.04838498
107Intention tremor (HP:0002080)2.03371506
108Hyperparathyroidism (HP:0000843)2.03343630
109Fetal akinesia sequence (HP:0001989)2.02990743
110Neoplasm of the peripheral nervous system (HP:0100007)2.02502323
111Abnormality of the thoracic spine (HP:0100711)2.01328522
112Increased connective tissue (HP:0009025)2.00313903
113Bone pain (HP:0002653)1.99458081
114Broad face (HP:0000283)1.98209242
115Premature rupture of membranes (HP:0001788)1.98178834
116Nephritis (HP:0000123)1.97726716
117Coronal craniosynostosis (HP:0004440)1.96870798
118Poor suck (HP:0002033)1.96437691
119Adrenal overactivity (HP:0002717)1.95471896
120Insomnia (HP:0100785)1.94992021
121Neuronal loss in central nervous system (HP:0002529)1.93885702
122Clumsiness (HP:0002312)1.93528342
123Obstructive sleep apnea (HP:0002870)1.93365369
124Xanthomatosis (HP:0000991)1.91774328
125Resting tremor (HP:0002322)1.89597874
126Neoplasm of the heart (HP:0100544)1.89431094
127Abnormality of pain sensation (HP:0010832)1.88891363
128Impaired pain sensation (HP:0007328)1.88891363
129Hyperacusis (HP:0010780)1.88797742
130EEG with generalized epileptiform discharges (HP:0011198)1.88785393
131Focal dystonia (HP:0004373)1.88352887
132Chronic obstructive pulmonary disease (HP:0006510)1.87499586
133Obstructive lung disease (HP:0006536)1.87499586
134Postural tremor (HP:0002174)1.87238841
135Limb dystonia (HP:0002451)1.87051278
136Macroorchidism (HP:0000053)1.86289705
137Epileptiform EEG discharges (HP:0011182)1.85982997
138Rigidity (HP:0002063)1.85848735
139Hypsarrhythmia (HP:0002521)1.85545055
140Genetic anticipation (HP:0003743)1.85318714
141Bundle branch block (HP:0011710)1.85133477
142Achilles tendon contracture (HP:0001771)1.84952452
143Abnormality of the labia minora (HP:0012880)1.84484426
144Myotonia (HP:0002486)1.84425081
145Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.84347881
146Dysmetric saccades (HP:0000641)1.83960400
147Upper limb amyotrophy (HP:0009129)1.83417099
148Distal upper limb amyotrophy (HP:0007149)1.83417099
149Spontaneous hematomas (HP:0007420)1.83023822
150Polygenic inheritance (HP:0010982)1.82056056
151Prolonged neonatal jaundice (HP:0006579)1.81886321
152Hepatosplenomegaly (HP:0001433)1.81662600
153Abnormality of the Achilles tendon (HP:0005109)1.81466604
154Craniofacial dystonia (HP:0012179)1.81260664
155Joint hemorrhage (HP:0005261)1.79589144
156Hemiparesis (HP:0001269)1.79076823
157Lower limb muscle weakness (HP:0007340)1.78910933
158Spondylolisthesis (HP:0003302)1.78765845
159Flat acetabular roof (HP:0003180)1.78668944
160Deformed sella turcica (HP:0002681)1.78185763
161Abnormality of calcium-phosphate metabolism (HP:0100530)1.77086146
162Clonus (HP:0002169)1.76933867
163Generalized myoclonic seizures (HP:0002123)1.76081551
164Dementia (HP:0000726)1.75693097
165Hypokinesia (HP:0002375)1.74893054
166Testicular neoplasm (HP:0010788)1.71535063
167Congenital glaucoma (HP:0001087)1.70627784
168Abnormality of the periventricular white matter (HP:0002518)1.70450931
169Recurrent skin infections (HP:0001581)1.70391349
170Large for gestational age (HP:0001520)1.69943928
171Distal lower limb amyotrophy (HP:0008944)1.68437804
172Malnutrition (HP:0004395)1.68279981
173Abnormality of the lumbar spine (HP:0100712)1.67065592
174Personality changes (HP:0000751)1.65582039
175Ovoid vertebral bodies (HP:0003300)1.64994031
176Peritonitis (HP:0002586)1.64274056
177Cellulitis (HP:0100658)1.63069287
178Esophageal varix (HP:0002040)1.62598527
179Peripheral demyelination (HP:0011096)1.62380476
180Mitral stenosis (HP:0001718)1.61617455
181Segmental peripheral demyelination/remyelination (HP:0003481)1.61322314
182Colitis (HP:0002583)1.61159901
183Bulbar palsy (HP:0001283)1.61029457
184* Cerebral aneurysm (HP:0004944)1.59963365
185Hypertriglyceridemia (HP:0002155)1.58864339
186Increased IgE level (HP:0003212)1.58581389

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK33.98938502
2MAP3K93.94603259
3ERN13.49525953
4DDR22.99805892
5ICK2.72999614
6IRAK32.71053154
7EPHA42.52296266
8PINK12.30805476
9MAP3K42.30145639
10NTRK12.29185784
11MAP2K32.14484552
12ARAF2.08458917
13NTRK22.08309448
14TYRO32.03752107
15SMG11.99651023
16BLK1.99514550
17MAP3K31.98396707
18UHMK11.98125766
19NME21.93751899
20TYK21.92153716
21PHKG11.89653503
22PHKG21.89653503
23KSR21.88488072
24PAK61.86657914
25PRKD31.86576914
26MAPK151.85009820
27MINK11.82784542
28FGFR41.80862504
29PDGFRA1.74468501
30MAP3K61.74048835
31LATS21.72278208
32DAPK11.69066419
33EPHB11.66778848
34MAP2K41.66553281
35MAP3K121.64326778
36TGFBR21.62167778
37TBK11.60872926
38PKN21.57814758
39TAOK21.56768447
40MAP3K111.52537334
41STK381.45164718
42TTN1.41333282
43BMX1.38022607
44CSK1.37538476
45ZAP701.35477762
46CAMKK11.33815290
47MAP2K71.33305838
48MAP3K141.32869618
49TRIB31.32384570
50TESK11.31850119
51IRAK41.30160367
52EEF2K1.29391741
53FGR1.29113718
54MAP4K11.29020630
55EPHA21.28212934
56PRKD21.24264166
57MARK11.24107847
58PAK41.20652467
59CDK51.20451964
60CDC42BPA1.18452026
61LMTK21.18128124
62TNK21.16736292
63DAPK21.12605907
64CSF1R1.11981035
65TAOK11.11210356
66PTK61.10063866
67MATK1.08924240
68MAP3K131.07119578
69GRK51.04060108
70PRKCH1.02731541
71RPS6KA20.98679828
72SCYL20.96517768
73CAMK2A0.94713339
74PAK30.92661323
75JAK30.92471330
76ALK0.92118457
77CDK120.88389838
78AKT30.88165311
79MAP3K10.87954530
80CAMK1D0.87450134
81RIPK10.86871706
82PRKCG0.86590481
83CAMK2G0.82418096
84TESK20.82395367
85RAF10.82380868
86SIK20.82234440
87IRAK20.79792288
88SIK30.76131318
89JAK10.76075435
90PIM20.75018902
91RET0.73293393
92MAP3K20.73152279
93CAMK2B0.72237667
94KSR10.70561883
95CAMKK20.69766339
96PDK10.69206138
97MTOR0.68953852
98CAMK2D0.68896466
99MAPK70.68667483
100CDK150.67959268
101FES0.66189354
102GRK60.65067701
103NEK10.64923363
104CDK180.64728011
105FER0.64262478
106CDK140.63472844
107IKBKB0.63225567
108HIPK20.62842616
109HCK0.62598829
110MAP2K60.61583801
111CAMK10.58859594
112JAK20.58290802
113STK110.58156172
114MAPK120.57920925
115SGK10.57852278
116IKBKE0.57725596
117ABL20.57689355
118PTK20.57678632
119CDK11A0.57256989
120CHUK0.55781610
121MARK20.55661578
122CAMK1G0.54884784
123FGFR30.54842858
124PLK20.54627208
125PRPF4B0.54528837
126MST1R0.53846602
127MAP3K70.53055368
128RPS6KA30.52684703
129PNCK0.52617601
130PDGFRB0.51926486
131MAPK100.50690293
132PRKAA10.49922177
133SIK10.47354440
134CDK190.46620628
135LRRK20.46574587
136MAP2K20.46555083
137RPS6KC10.46112248
138RPS6KL10.46112248
139BTK0.46035790
140CDK60.45973788
141RIPK40.45411745
142SGK30.44954424
143PDPK10.42728133
144MAPKAPK20.42369083
145DYRK1B0.42127034
146PRKCZ0.40970360
147EPHB20.40859172
148PRKG20.40722173
149MOS0.39569430
150LYN0.38793345
151IRAK10.38326109
152SGK4940.37012651
153SGK2230.37012651
154PRKD10.36997931
155CSNK1G20.34768745
156PRKACG0.34631743
157MAP2K10.33866246
158GRK70.32899255
159PTK2B0.32178382
160RPS6KA60.32138896

Predicted pathways (KEGG)

RankGene SetZ-score
1Other glycan degradation_Homo sapiens_hsa005114.60927967
2Synaptic vesicle cycle_Homo sapiens_hsa047213.28411233
3Nicotine addiction_Homo sapiens_hsa050333.23096415
4GABAergic synapse_Homo sapiens_hsa047272.80899915
5Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.67553696
6Staphylococcus aureus infection_Homo sapiens_hsa051502.66997722
7Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.47363465
8Osteoclast differentiation_Homo sapiens_hsa043802.31464565
9Olfactory transduction_Homo sapiens_hsa047402.25470035
10Amphetamine addiction_Homo sapiens_hsa050312.16114029
11Circadian entrainment_Homo sapiens_hsa047132.12434737
12Morphine addiction_Homo sapiens_hsa050322.07694045
13Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.06810324
14Insulin secretion_Homo sapiens_hsa049112.05773588
15Vasopressin-regulated water reabsorption_Homo sapiens_hsa049622.05381669
16Leishmaniasis_Homo sapiens_hsa051401.92262854
17Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.90390773
18Long-term potentiation_Homo sapiens_hsa047201.90229213
19Cocaine addiction_Homo sapiens_hsa050301.86438290
20Glutamatergic synapse_Homo sapiens_hsa047241.86060072
21Dopaminergic synapse_Homo sapiens_hsa047281.82794464
22Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.82622636
23Complement and coagulation cascades_Homo sapiens_hsa046101.82247724
24Fatty acid biosynthesis_Homo sapiens_hsa000611.80616041
25Toll-like receptor signaling pathway_Homo sapiens_hsa046201.79255935
26Salivary secretion_Homo sapiens_hsa049701.75282776
27Pertussis_Homo sapiens_hsa051331.70247267
28Collecting duct acid secretion_Homo sapiens_hsa049661.67616905
29Gastric acid secretion_Homo sapiens_hsa049711.62737920
30Tuberculosis_Homo sapiens_hsa051521.62217687
31Aldosterone synthesis and secretion_Homo sapiens_hsa049251.57015677
32Taste transduction_Homo sapiens_hsa047421.56901974
33Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.51200452
34Nitrogen metabolism_Homo sapiens_hsa009101.51145145
35Notch signaling pathway_Homo sapiens_hsa043301.49314677
36Acute myeloid leukemia_Homo sapiens_hsa052211.45297424
37Malaria_Homo sapiens_hsa051441.43094077
38Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.40824980
39Cholinergic synapse_Homo sapiens_hsa047251.40612261
40GnRH signaling pathway_Homo sapiens_hsa049121.38991415
41Renin secretion_Homo sapiens_hsa049241.36466396
42Gap junction_Homo sapiens_hsa045401.36318749
43Vibrio cholerae infection_Homo sapiens_hsa051101.35166445
44Phagosome_Homo sapiens_hsa041451.31805018
45Long-term depression_Homo sapiens_hsa047301.31573622
46Serotonergic synapse_Homo sapiens_hsa047261.30678308
47Toxoplasmosis_Homo sapiens_hsa051451.28837948
48Calcium signaling pathway_Homo sapiens_hsa040201.27974807
49Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.27842441
50TNF signaling pathway_Homo sapiens_hsa046681.27367663
51Oxytocin signaling pathway_Homo sapiens_hsa049211.27097098
52Estrogen signaling pathway_Homo sapiens_hsa049151.23093867
53Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.21988808
54Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.18669580
55B cell receptor signaling pathway_Homo sapiens_hsa046621.17812333
56Cardiac muscle contraction_Homo sapiens_hsa042601.17266271
57Amoebiasis_Homo sapiens_hsa051461.16740525
58Salmonella infection_Homo sapiens_hsa051321.14556229
59Rheumatoid arthritis_Homo sapiens_hsa053231.14262551
60Type II diabetes mellitus_Homo sapiens_hsa049301.10344977
61Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.09141088
62NF-kappa B signaling pathway_Homo sapiens_hsa040641.09032763
63Legionellosis_Homo sapiens_hsa051341.06946189
64Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.06669243
65Chronic myeloid leukemia_Homo sapiens_hsa052201.04230461
66Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.04157332
67Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.03427502
68Hepatitis C_Homo sapiens_hsa051601.00523431
69cAMP signaling pathway_Homo sapiens_hsa040241.00449557
70Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.00195886
71Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.00172203
72Influenza A_Homo sapiens_hsa051641.00126741
73AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.99596495
74mTOR signaling pathway_Homo sapiens_hsa041500.97542625
75Dorso-ventral axis formation_Homo sapiens_hsa043200.96595716
76Circadian rhythm_Homo sapiens_hsa047100.95953945
772-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.95832488
78Dilated cardiomyopathy_Homo sapiens_hsa054140.95485712
79Arginine biosynthesis_Homo sapiens_hsa002200.94903993
80Melanogenesis_Homo sapiens_hsa049160.94249797
81Leukocyte transendothelial migration_Homo sapiens_hsa046700.90772531
82NOD-like receptor signaling pathway_Homo sapiens_hsa046210.89499146
83Allograft rejection_Homo sapiens_hsa053300.87918754
84Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.87759550
85Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.87125348
86Prion diseases_Homo sapiens_hsa050200.86752776
87Bile secretion_Homo sapiens_hsa049760.85930816
88Non-small cell lung cancer_Homo sapiens_hsa052230.84940766
89Thyroid hormone synthesis_Homo sapiens_hsa049180.84703132
90Chemokine signaling pathway_Homo sapiens_hsa040620.84083647
91Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.83986597
92Insulin signaling pathway_Homo sapiens_hsa049100.83108084
93Glucagon signaling pathway_Homo sapiens_hsa049220.83094918
94Pentose phosphate pathway_Homo sapiens_hsa000300.82966333
95ErbB signaling pathway_Homo sapiens_hsa040120.82924352
96Glioma_Homo sapiens_hsa052140.82199718
97* Galactose metabolism_Homo sapiens_hsa000520.81837240
98Longevity regulating pathway - mammal_Homo sapiens_hsa042110.81550283
99RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.78449457
100Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.77478269
101Pancreatic cancer_Homo sapiens_hsa052120.77085500
102Oocyte meiosis_Homo sapiens_hsa041140.75536291
103Prolactin signaling pathway_Homo sapiens_hsa049170.75484329
104Insulin resistance_Homo sapiens_hsa049310.74784026
105Hepatitis B_Homo sapiens_hsa051610.74566137
106Renal cell carcinoma_Homo sapiens_hsa052110.73319243
107Sphingolipid signaling pathway_Homo sapiens_hsa040710.72721030
108Vascular smooth muscle contraction_Homo sapiens_hsa042700.72226099
109Autoimmune thyroid disease_Homo sapiens_hsa053200.72122883
110Graft-versus-host disease_Homo sapiens_hsa053320.71981981
111Sphingolipid metabolism_Homo sapiens_hsa006000.71827890
112Antigen processing and presentation_Homo sapiens_hsa046120.71201351
113cGMP-PKG signaling pathway_Homo sapiens_hsa040220.71147089
114Viral myocarditis_Homo sapiens_hsa054160.70237145
115Apoptosis_Homo sapiens_hsa042100.69956444
116PPAR signaling pathway_Homo sapiens_hsa033200.69163769
117Shigellosis_Homo sapiens_hsa051310.68141422
118Phosphatidylinositol signaling system_Homo sapiens_hsa040700.67627016
119Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.67077358
120Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.64894736
121Hedgehog signaling pathway_Homo sapiens_hsa043400.64498805
122Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.63722465
123Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.63318974
124Phospholipase D signaling pathway_Homo sapiens_hsa040720.62601045
125Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.62094262
126Hematopoietic cell lineage_Homo sapiens_hsa046400.61447320
127Pancreatic secretion_Homo sapiens_hsa049720.61250020
128Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.61136036
129Endometrial cancer_Homo sapiens_hsa052130.61023753
130MAPK signaling pathway_Homo sapiens_hsa040100.60998460
131Type I diabetes mellitus_Homo sapiens_hsa049400.60768737
132African trypanosomiasis_Homo sapiens_hsa051430.60088685
133HIF-1 signaling pathway_Homo sapiens_hsa040660.59837440
134* Lysosome_Homo sapiens_hsa041420.58607048
135Asthma_Homo sapiens_hsa053100.58487136
136Focal adhesion_Homo sapiens_hsa045100.57926240
137Measles_Homo sapiens_hsa051620.56941128
138Choline metabolism in cancer_Homo sapiens_hsa052310.56664716
139Proteoglycans in cancer_Homo sapiens_hsa052050.56035498
140Fatty acid metabolism_Homo sapiens_hsa012120.55330166
141Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.54595917
142Platelet activation_Homo sapiens_hsa046110.54411179
143VEGF signaling pathway_Homo sapiens_hsa043700.52901851
144Herpes simplex infection_Homo sapiens_hsa051680.52696305
145Carbohydrate digestion and absorption_Homo sapiens_hsa049730.52417926
146Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.51516054
147Glycosaminoglycan degradation_Homo sapiens_hsa005310.51487877
148T cell receptor signaling pathway_Homo sapiens_hsa046600.50782670
149Jak-STAT signaling pathway_Homo sapiens_hsa046300.50706861
150Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.50645655
151Cyanoamino acid metabolism_Homo sapiens_hsa004600.49309448
152Thyroid hormone signaling pathway_Homo sapiens_hsa049190.47959212
153Endocytosis_Homo sapiens_hsa041440.47779669
154Neurotrophin signaling pathway_Homo sapiens_hsa047220.47212637
155Axon guidance_Homo sapiens_hsa043600.47020541
156Glycerophospholipid metabolism_Homo sapiens_hsa005640.43958643
157Wnt signaling pathway_Homo sapiens_hsa043100.43788526
158Bladder cancer_Homo sapiens_hsa052190.43510104
159Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.43058076
160Intestinal immune network for IgA production_Homo sapiens_hsa046720.42110289
161Butanoate metabolism_Homo sapiens_hsa006500.42047654
162Adipocytokine signaling pathway_Homo sapiens_hsa049200.40771021
163AMPK signaling pathway_Homo sapiens_hsa041520.39038499
164Ovarian steroidogenesis_Homo sapiens_hsa049130.38510725
165Biosynthesis of amino acids_Homo sapiens_hsa012300.38110050
166Central carbon metabolism in cancer_Homo sapiens_hsa052300.36407198
167Fructose and mannose metabolism_Homo sapiens_hsa000510.36316975
168Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.34660814
169Rap1 signaling pathway_Homo sapiens_hsa040150.31983965

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