PRKAG2

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: AMP-activated protein kinase (AMPK) is a heterotrimeric protein composed of a catalytic alpha subunit, a noncatalytic beta subunit, and a noncatalytic regulatory gamma subunit. Various forms of each of these subunits exist, encoded by different genes. AMPK is an important energy-sensing enzyme that monitors cellular energy status and functions by inactivating key enzymes involved in regulating de novo biosynthesis of fatty acid and cholesterol. This gene is a member of the AMPK gamma subunit family. Mutations in this gene have been associated with Wolff-Parkinson-White syndrome, familial hypertrophic cardiomyopathy, and glycogen storage disease of the heart. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle maturation (GO:0016188)5.05368184
2locomotory exploration behavior (GO:0035641)4.44908955
3regulation of short-term neuronal synaptic plasticity (GO:0048172)4.40004260
4synaptic vesicle docking involved in exocytosis (GO:0016081)4.27781497
5cell communication by electrical coupling involved in cardiac conduction (GO:0086064)4.22038562
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.15392896
7positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.14825503
8glutamate secretion (GO:0014047)4.11193924
9proline transport (GO:0015824)4.03896734
10layer formation in cerebral cortex (GO:0021819)3.99666358
11activation of protein kinase A activity (GO:0034199)3.95437301
12regulation of synapse structural plasticity (GO:0051823)3.93268642
13cell communication by electrical coupling (GO:0010644)3.92303812
14regulation of glutamate receptor signaling pathway (GO:1900449)3.84320958
15regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.80273244
16vocalization behavior (GO:0071625)3.76955935
17synaptic vesicle exocytosis (GO:0016079)3.76008915
18response to peptidoglycan (GO:0032494)3.74401200
19sodium ion export (GO:0071436)3.71682193
20positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.66487057
21neurotransmitter secretion (GO:0007269)3.51730266
22regulation of ARF protein signal transduction (GO:0032012)3.44811736
23neurotransmitter-gated ion channel clustering (GO:0072578)3.44373916
24regulation of synaptic vesicle exocytosis (GO:2000300)3.39536087
25exploration behavior (GO:0035640)3.38920686
26positive regulation of dendritic spine morphogenesis (GO:0061003)3.36228017
27neutrophil activation involved in immune response (GO:0002283)3.34908854
28regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.34854983
29regulation of neuronal synaptic plasticity (GO:0048168)3.33677926
30negative regulation of interleukin-12 production (GO:0032695)3.31239885
31cell communication involved in cardiac conduction (GO:0086065)3.28222020
32antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.22962085
33regulation of synaptic vesicle transport (GO:1902803)3.20731663
34cellular response to thyroid hormone stimulus (GO:0097067)3.18850709
35protein localization to synapse (GO:0035418)3.17977825
36calcium ion-dependent exocytosis (GO:0017156)3.13982849
37regulation of long-term neuronal synaptic plasticity (GO:0048169)3.12947112
38membrane depolarization during action potential (GO:0086010)3.10868692
39cellular potassium ion homeostasis (GO:0030007)3.07836727
40gamma-aminobutyric acid transport (GO:0015812)3.07233334
41membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.06702709
42ionotropic glutamate receptor signaling pathway (GO:0035235)3.03833416
43alanine transport (GO:0032328)3.02854791
44response to epinephrine (GO:0071871)3.01285646
45regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)3.00408013
46macrophage activation involved in immune response (GO:0002281)2.99853801
47cellular sodium ion homeostasis (GO:0006883)2.98812985
48tricarboxylic acid cycle (GO:0006099)2.97309016
49sarcomere organization (GO:0045214)2.96443104
50pyrimidine nucleobase catabolic process (GO:0006208)2.94654550
51positive regulation of potassium ion transmembrane transporter activity (GO:1901018)2.92664781
52regulation of dendritic spine morphogenesis (GO:0061001)2.91159620
53positive regulation of gamma-delta T cell activation (GO:0046645)2.90296406
54nucleobase catabolic process (GO:0046113)2.89511106
55positive regulation of synapse maturation (GO:0090129)2.85630748
56cardiac muscle contraction (GO:0060048)2.84256599
57regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.83458283
58positive regulation of dendritic spine development (GO:0060999)2.82986887
59lipopolysaccharide-mediated signaling pathway (GO:0031663)2.81363560
60negative regulation of cell killing (GO:0031342)2.79539714
61negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.79539714
62synaptic transmission, glutamatergic (GO:0035249)2.78660115
63germinal center formation (GO:0002467)2.75944141
64regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.74742503
65* carnitine shuttle (GO:0006853)2.73869859
66positive regulation of potassium ion transmembrane transport (GO:1901381)2.72765533
67positive regulation of synaptic transmission, glutamatergic (GO:0051968)2.71168630
68sperm motility (GO:0030317)2.71042766
69heart contraction (GO:0060047)2.70473135
70heart process (GO:0003015)2.70473135
71negative regulation of amyloid precursor protein catabolic process (GO:1902992)2.69573854
72* carnitine transmembrane transport (GO:1902603)2.69323972
73antigen processing and presentation of endogenous antigen (GO:0019883)2.69095069
74positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.68107954
75alpha-linolenic acid metabolic process (GO:0036109)2.67513924
76regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.66904410
77positive regulation of membrane potential (GO:0045838)2.66189185
78membrane repolarization during cardiac muscle cell action potential (GO:0086013)2.64947730
79regulation of relaxation of muscle (GO:1901077)2.63988883
80negative regulation of sodium ion transport (GO:0010766)2.63844200
81* carnitine transport (GO:0015879)2.63153421
82* amino-acid betaine transport (GO:0015838)2.63153421
83regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.62626501
84glycine transport (GO:0015816)2.62521531
85modulation by symbiont of host defense response (GO:0052031)2.62260132
86modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.62260132
87modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.62260132
88positive regulation by organism of defense response of other organism involved in symbiotic interact2.62260132
89modulation by symbiont of host immune response (GO:0052553)2.62260132
90positive regulation by symbiont of host defense response (GO:0052509)2.62260132
91cellular response to epinephrine stimulus (GO:0071872)2.61809662
92membrane repolarization (GO:0086009)2.61511547
93dicarboxylic acid biosynthetic process (GO:0043650)2.60519427
94* fatty acid transmembrane transport (GO:1902001)2.60233866
95acrosome reaction (GO:0007340)2.58780411
96positive regulation of synaptic transmission, GABAergic (GO:0032230)2.58314231
97cellular extravasation (GO:0045123)2.57473945
98regulation of excitatory postsynaptic membrane potential (GO:0060079)2.57226564
99establishment of nucleus localization (GO:0040023)2.57180019
100actin-myosin filament sliding (GO:0033275)2.56081963
101muscle filament sliding (GO:0030049)2.56081963
102detection of other organism (GO:0098543)2.56035846
103myofibril assembly (GO:0030239)2.56014083
104macrophage activation (GO:0042116)2.55366782
105cardiac myofibril assembly (GO:0055003)2.54904566
106regulation of cAMP-dependent protein kinase activity (GO:2000479)2.54230176
107antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.54041219
108long-term memory (GO:0007616)2.53958745
109neurotransmitter transport (GO:0006836)2.52713466
110lysine catabolic process (GO:0006554)2.52482369
111lysine metabolic process (GO:0006553)2.52482369
112NADH metabolic process (GO:0006734)2.51843986
113regulation of dendritic cell antigen processing and presentation (GO:0002604)2.51138911
114cerebellar Purkinje cell differentiation (GO:0021702)2.50261725
115regulation of calcium ion transmembrane transporter activity (GO:1901019)2.50045415
116regulation of calcium ion transmembrane transport (GO:1903169)2.50045415
117negative regulation of nitric oxide biosynthetic process (GO:0045019)2.49925651
118regulation of synaptic plasticity (GO:0048167)2.49691764
119regulation of the force of heart contraction (GO:0002026)2.49481287
120cellular ketone body metabolic process (GO:0046950)2.49158531
121positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.48647541
122regulation of ion transmembrane transporter activity (GO:0032412)2.48448470
123neuromuscular process controlling balance (GO:0050885)2.48273726
124regulation of actin filament-based movement (GO:1903115)2.48158218
125detection of calcium ion (GO:0005513)2.48053585
126positive regulation of CREB transcription factor activity (GO:0032793)2.47872355
127regulation of neurotransmitter levels (GO:0001505)2.47058062
128dendrite morphogenesis (GO:0048813)2.46779670
129plasma membrane fusion (GO:0045026)2.45404436
130cilium or flagellum-dependent cell motility (GO:0001539)2.44976989
131negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.44927033
132regulation of vitamin D biosynthetic process (GO:0060556)2.43596145
133negative regulation of potassium ion transmembrane transport (GO:1901380)2.43194378
134glutamate receptor signaling pathway (GO:0007215)2.42422009
135production of molecular mediator involved in inflammatory response (GO:0002532)2.42050802
136succinate metabolic process (GO:0006105)2.41474047
137antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.41463904
138regulation of transmembrane transporter activity (GO:0022898)2.39956723
139neutral lipid catabolic process (GO:0046461)2.38910021
140acylglycerol catabolic process (GO:0046464)2.38910021
141regulation of T cell tolerance induction (GO:0002664)2.38324038
142potassium ion import (GO:0010107)2.37916916
143vesicle transport along microtubule (GO:0047496)2.37579832
144cardiac muscle hypertrophy (GO:0003300)2.36470750
145detection of molecule of bacterial origin (GO:0032490)2.35482290
146regulation of T-helper 2 cell differentiation (GO:0045628)2.34988936
147granulocyte activation (GO:0036230)2.33719395
148positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.31134358
149interferon-gamma-mediated signaling pathway (GO:0060333)2.30001172
150detection of bacterium (GO:0016045)2.29832766
151response to thyroid hormone (GO:0097066)2.29495806
152positive regulation of cellular amide metabolic process (GO:0034250)2.29101371
153Rap protein signal transduction (GO:0032486)2.28272654
154striated muscle atrophy (GO:0014891)2.28198577
155sarcoplasmic reticulum calcium ion transport (GO:0070296)2.27532020
156regulation of T-helper 1 cell differentiation (GO:0045625)2.25962148
157regulation of gamma-delta T cell activation (GO:0046643)2.25492846
158type I interferon signaling pathway (GO:0060337)2.24146214
159cellular response to type I interferon (GO:0071357)2.24146214
160negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.24019292
161neutrophil activation (GO:0042119)2.23394326
162regulation of type B pancreatic cell apoptotic process (GO:2000674)2.23161019
163positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.22999719
164relaxation of cardiac muscle (GO:0055119)2.22378362
165positive regulation of type 2 immune response (GO:0002830)2.22316715
166regulation of tolerance induction (GO:0002643)2.21928642
167macroautophagy (GO:0016236)2.21292191
168regulation of interferon-beta biosynthetic process (GO:0045357)2.21271655
169membrane raft organization (GO:0031579)2.21225777
170positive regulation of antigen processing and presentation (GO:0002579)2.21203147
171regulation of striated muscle contraction (GO:0006942)2.21172820
172response to stimulus involved in regulation of muscle adaptation (GO:0014874)2.20900316
173response to type I interferon (GO:0034340)2.20540191
174positive regulation of chemokine biosynthetic process (GO:0045080)2.20407163
175response to muramyl dipeptide (GO:0032495)2.20015000
176striated muscle hypertrophy (GO:0014897)2.18732085
177defense response to protozoan (GO:0042832)2.16822418
178actin-mediated cell contraction (GO:0070252)2.15803961
179JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.15566863
180regulation of interleukin-8 biosynthetic process (GO:0045414)2.15553230
181detection of external biotic stimulus (GO:0098581)2.15492208
182regulation of chemokine biosynthetic process (GO:0045073)2.15179961
183regulation of cardiac muscle contraction (GO:0055117)2.14710510
184positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.13545506
185positive regulation of tolerance induction (GO:0002645)2.13010854
186negative regulation of interleukin-17 production (GO:0032700)2.11786050
187regulation of antigen processing and presentation (GO:0002577)2.11761082
188response to protozoan (GO:0001562)2.11703907
189T-helper 1 type immune response (GO:0042088)2.11575320
190establishment of endothelial barrier (GO:0061028)2.10872595
191regulation of mast cell degranulation (GO:0043304)2.10510548
192muscle hypertrophy (GO:0014896)2.10278788
193immunoglobulin mediated immune response (GO:0016064)2.09991279
194regulation of necroptotic process (GO:0060544)2.08735767

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.11412175
2IRF8_22096565_ChIP-ChIP_GC-B_Human4.16030838
3FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.36035176
4SMAD_19615063_ChIP-ChIP_OVARY_Human3.09900291
5BP1_19119308_ChIP-ChIP_Hs578T_Human3.09089908
6Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.60609415
7IRF8_21731497_ChIP-ChIP_J774_Mouse2.48122281
8STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.45452669
9GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.42758167
10MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.42554787
11ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.39892895
12GATA1_22025678_ChIP-Seq_K562_Human2.38902851
13REST_21632747_ChIP-Seq_MESCs_Mouse2.38753223
14* DROSHA_22980978_ChIP-Seq_HELA_Human2.37548188
15IRF8_27001747_Chip-Seq_BMDM_Mouse2.37458746
16* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.34681338
17* RARB_27405468_Chip-Seq_BRAIN_Mouse2.30769484
18RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.21746349
19GBX2_23144817_ChIP-Seq_PC3_Human2.20247376
20MYB_21317192_ChIP-Seq_ERMYB_Mouse2.15527397
21NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.12138906
22PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.11646487
23* SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.06777505
24* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.02838195
25RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.96642032
26SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.96089851
27REST_18959480_ChIP-ChIP_MESCs_Mouse1.95822265
28* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.94395336
29IKZF1_21737484_ChIP-ChIP_HCT116_Human1.88148675
30IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.87328257
31EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.86176205
32* MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.85705483
33STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.85666460
34* RXR_22158963_ChIP-Seq_LIVER_Mouse1.82642887
35RUNX_20019798_ChIP-Seq_JUKART_Human1.74845730
36* VDR_24787735_ChIP-Seq_THP-1_Human1.74570256
37EZH2_27294783_Chip-Seq_ESCs_Mouse1.74280890
38ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.71843962
39* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.71701260
40* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.71701260
41ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.70615350
42SUZ12_27294783_Chip-Seq_ESCs_Mouse1.64791520
43SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.64649395
44JARID2_20064375_ChIP-Seq_MESCs_Mouse1.62949128
45* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.62296387
46* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.60309855
47NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.59414935
48PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.57150997
49FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.56705024
50NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.55388533
51* LXR_22158963_ChIP-Seq_LIVER_Mouse1.50564236
52PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.48574289
53ZNF274_21170338_ChIP-Seq_K562_Hela1.48259701
54* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.48249469
55* LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.46948190
56* NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.45470309
57* SPI1_23127762_ChIP-Seq_K562_Human1.44768577
58* PPARA_22158963_ChIP-Seq_LIVER_Mouse1.42243553
59* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.41432454
60NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.37464174
61* DNAJC2_21179169_ChIP-ChIP_NT2_Human1.36106700
62TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.35523475
63RNF2_27304074_Chip-Seq_ESCs_Mouse1.35504537
64VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.33823633
65THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.33819915
66CJUN_26792858_Chip-Seq_BT549_Human1.32400431
67SCL_19346495_ChIP-Seq_HPC-7_Human1.31822310
68GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.30028243
69* TBX20_22080862_ChIP-Seq_HEART_Mouse1.29076994
70* TBX20_22328084_ChIP-Seq_HEART_Mouse1.29076994
71ESR2_21235772_ChIP-Seq_MCF-7_Human1.26700083
72TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.26492927
73EZH2_27304074_Chip-Seq_ESCs_Mouse1.26256578
74SMAD4_21799915_ChIP-Seq_A2780_Human1.25617534
75CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.25560059
76FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.23976072
77* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.23496427
78RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.22270343
79NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.22250533
80NRF2_20460467_ChIP-Seq_MEFs_Mouse1.22250533
81IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.20058748
82PPAR_26484153_Chip-Seq_NCI-H1993_Human1.18358808
83EGR1_19374776_ChIP-ChIP_THP-1_Human1.18070549
84STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.17579431
85* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.16303259
86* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.16303259
87* KDM2B_26808549_Chip-Seq_K562_Human1.16157927
88WT1_25993318_ChIP-Seq_PODOCYTE_Human1.15570541
89JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.15548341
90ZNF263_19887448_ChIP-Seq_K562_Human1.15225829
91ERG_21242973_ChIP-ChIP_JURKAT_Human1.13908992
92RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.13775533
93NR3C1_23031785_ChIP-Seq_PC12_Mouse1.13657986
94* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.12281395
95* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.11982686
96JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.10918430
97* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.10846355
98* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.10384783
99NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.09880134
100SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.08818006
101* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.07711127
102* EP300_21415370_ChIP-Seq_HL-1_Mouse1.07108621
103KDM2B_26808549_Chip-Seq_SUP-B15_Human1.06332763
104LXR_22292898_ChIP-Seq_THP-1_Human1.06301742
105CTCF_27219007_Chip-Seq_Bcells_Human1.05819802
106* SOX2_21211035_ChIP-Seq_LN229_Gbm1.05233244
107SOX2_20726797_ChIP-Seq_SW620_Human1.04152381
108PU_27001747_Chip-Seq_BMDM_Mouse1.03986543
109BRD4_27068464_Chip-Seq_AML-cells_Mouse1.03862306
110FOXO3_23340844_ChIP-Seq_DLD1_Human1.02719965
111STAT4_19710469_ChIP-ChIP_TH1__Mouse1.00680881
112MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00337505
113WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.00300408
114* SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.99828860
115* AR_19668381_ChIP-Seq_PC3_Human0.98421889
116CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.98284846
117* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.98128656
118* EED_16625203_ChIP-ChIP_MESCs_Mouse0.97578228
119AR_25329375_ChIP-Seq_VCAP_Human0.97546806
120* VDR_24763502_ChIP-Seq_THP-1_Human0.96130251
121SALL4_18804426_ChIP-ChIP_XEN_Mouse0.95675618
122CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.95584466
123* TP63_23658742_ChIP-Seq_EP156T_Human0.95433387
124* BRD4_25478319_ChIP-Seq_HGPS_Human0.95359779
125FOXA2_19822575_ChIP-Seq_HepG2_Human0.95345560
126SMC4_20622854_ChIP-Seq_HELA_Human0.95301934
127TET1_21490601_ChIP-Seq_MESCs_Mouse0.95254314
128PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.94745579
129CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.94568758
130RING1B_27294783_Chip-Seq_ESCs_Mouse0.94037838
131KLF4_19829295_ChIP-Seq_ESCs_Human0.93114295
132EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.92310802
133* CTBP2_25329375_ChIP-Seq_LNCAP_Human0.92179620
134* SPI1_23547873_ChIP-Seq_NB4_Human0.91999549
135* TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.91831636
136SMAD3_21741376_ChIP-Seq_HESCs_Human0.90803362
137SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.90544949
138* ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.90091068
139AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.89788763
140* STAT3_23295773_ChIP-Seq_U87_Human0.89434405
141BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.89277439
142* TP53_16413492_ChIP-PET_HCT116_Human0.88977272
143GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.88670674
144SMAD3_21741376_ChIP-Seq_ESCs_Human0.88206979
145* TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.87742519
146* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.87585068
147ESR1_21235772_ChIP-Seq_MCF-7_Human0.87292060
148* GATA1_19941827_ChIP-Seq_MEL_Mouse0.87286379
149* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86851115
150CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.86826768
151BCAT_22108803_ChIP-Seq_LS180_Human0.86731065
152* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.85539596
153ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.85493702
154* GATA1_19941827_ChIP-Seq_MEL86_Mouse0.85400263
155MYB_26560356_Chip-Seq_TH2_Human0.85314095
156SOX9_24532713_ChIP-Seq_HFSC_Mouse0.84458202
157PIAS1_25552417_ChIP-Seq_VCAP_Human0.84365652
158FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.83263764
159RUNX1_22412390_ChIP-Seq_EML_Mouse0.83202850
160RARG_19884340_ChIP-ChIP_MEFs_Mouse0.83178349
161* TCF4_23295773_ChIP-Seq_U87_Human0.82884119
162KDM2B_26808549_Chip-Seq_DND41_Human0.82529741
163* PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.82509893
164IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.82198029
165CBP_20019798_ChIP-Seq_JUKART_Human0.82198029
166* SMAD4_21741376_ChIP-Seq_HESCs_Human0.82189394
167CTNNB1_20460455_ChIP-Seq_HCT116_Human0.81174371
168GATA2_19941826_ChIP-Seq_K562_Human0.80857544
169ZNF217_24962896_ChIP-Seq_MCF-7_Human0.80790180
170CDX2_19796622_ChIP-Seq_MESCs_Mouse0.79954958
171* SMAD4_21741376_ChIP-Seq_EPCs_Human0.79517638
172TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.79515014
173CTBP1_25329375_ChIP-Seq_LNCAP_Human0.77785036
174CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.77171885
175ESR1_20079471_ChIP-ChIP_T-47D_Human0.77096267
176* AHR_22903824_ChIP-Seq_MCF-7_Human0.76347858
177TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.76081616
178YAP1_20516196_ChIP-Seq_MESCs_Mouse0.75972984
179GATA2_21666600_ChIP-Seq_HMVEC_Human0.75382025
180KDM2B_26808549_Chip-Seq_JURKAT_Human0.75082428
181CDX2_22108803_ChIP-Seq_LS180_Human0.74887130
182GATA1_19941826_ChIP-Seq_K562_Human0.74615641
183SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.74378041

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity5.99673083
2MP0003635_abnormal_synaptic_transmissio3.30186510
3MP0003303_peritoneal_inflammation3.24825890
4MP0002139_abnormal_hepatobiliary_system3.23315818
5MP0004270_analgesia2.96959553
6MP0003724_increased_susceptibility_to2.95274656
7MP0002822_catalepsy2.59981869
8MP0002063_abnormal_learning/memory/cond2.57711381
9MP0005410_abnormal_fertilization2.56871050
10MP0003880_abnormal_central_pattern2.56783144
11MP0001968_abnormal_touch/_nociception2.55218168
12MP0009745_abnormal_behavioral_response2.48324781
13MP0005085_abnormal_gallbladder_physiolo2.43071385
14MP0002909_abnormal_adrenal_gland2.38237801
15MP0003828_pulmonary_edema2.34037621
16MP0004130_abnormal_muscle_cell2.32236032
17MP0005360_urolithiasis2.27635452
18MP0006082_CNS_inflammation2.21783231
19MP0005365_abnormal_bile_salt2.20193887
20MP0009780_abnormal_chondrocyte_physiolo2.18606704
21MP0003436_decreased_susceptibility_to2.18415266
22MP0002735_abnormal_chemical_nociception2.13571959
23MP0009840_abnormal_foam_cell2.12573625
24MP0009785_altered_susceptibility_to2.04672170
25MP0002148_abnormal_hypersensitivity_rea2.03963100
26MP0002837_dystrophic_cardiac_calcinosis2.03245203
27MP0002064_seizures1.99466115
28MP0002736_abnormal_nociception_after1.99052503
29MP0002332_abnormal_exercise_endurance1.95499895
30MP0002234_abnormal_pharynx_morphology1.90989609
31MP0003300_gastrointestinal_ulcer1.88742099
32MP0002572_abnormal_emotion/affect_behav1.88276214
33MP0003172_abnormal_lysosome_physiology1.86024500
34MP0003950_abnormal_plasma_membrane1.83646813
35MP0002419_abnormal_innate_immunity1.83126820
36MP0010329_abnormal_lipoprotein_level1.82889695
37MP0001835_abnormal_antigen_presentation1.81656487
38MP0002734_abnormal_mechanical_nocicepti1.81184957
39MP0003329_amyloid_beta_deposits1.78732813
40MP0008875_abnormal_xenobiotic_pharmacok1.78084490
41MP0009046_muscle_twitch1.72788767
42MP0000343_altered_response_to1.71169045
43MP0005423_abnormal_somatic_nervous1.70088523
44MP0005000_abnormal_immune_tolerance1.69742558
45MP0005058_abnormal_lysosome_morphology1.69382956
46MP0005165_increased_susceptibility_to1.67517770
47MP0008961_abnormal_basal_metabolism1.67019952
48MP0004811_abnormal_neuron_physiology1.63660546
49MP0008569_lethality_at_weaning1.62749515
50MP0005670_abnormal_white_adipose1.61308808
51MP0002733_abnormal_thermal_nociception1.61243224
52MP0005451_abnormal_body_composition1.60945191
53MP0002272_abnormal_nervous_system1.59979724
54MP0001790_abnormal_immune_system1.59657441
55MP0005387_immune_system_phenotype1.59657441
56MP0004858_abnormal_nervous_system1.58258007
57MP0003868_abnormal_feces_composition1.56692663
58MP0000749_muscle_degeneration1.54069469
59MP0000569_abnormal_digit_pigmentation1.51041802
60MP0003806_abnormal_nucleotide_metabolis1.50804474
61MP0005535_abnormal_body_temperature1.50139864
62MP0003252_abnormal_bile_duct1.50117232
63MP0001533_abnormal_skeleton_physiology1.48787064
64MP0003879_abnormal_hair_cell1.47043005
65MP0005025_abnormal_response_to1.45630877
66MP0005166_decreased_susceptibility_to1.43506768
67MP0008004_abnormal_stomach_pH1.41864257
68MP0003787_abnormal_imprinting1.39770820
69MP0009764_decreased_sensitivity_to1.38512129
70MP0001486_abnormal_startle_reflex1.37684902
71MP0000751_myopathy1.36958698
72MP0005646_abnormal_pituitary_gland1.36364518
73MP0001501_abnormal_sleep_pattern1.34226518
74MP0002452_abnormal_antigen_presenting1.33620271
75MP0003633_abnormal_nervous_system1.33216132
76MP0002723_abnormal_immune_serum1.32700005
77MP0005386_behavior/neurological_phenoty1.31411746
78MP0004924_abnormal_behavior1.31411746
79MP0004215_abnormal_myocardial_fiber1.29757735
80MP0001970_abnormal_pain_threshold1.28582837
81MP0002067_abnormal_sensory_capabilities1.25777797
82MP0001800_abnormal_humoral_immune1.24520245
83MP0005164_abnormal_response_to1.24168292
84MP0002998_abnormal_bone_remodeling1.22318321
85MP0003183_abnormal_peptide_metabolism1.22282510
86MP0001845_abnormal_inflammatory_respons1.22237018
87MP0003690_abnormal_glial_cell1.21414893
88MP0002118_abnormal_lipid_homeostasis1.21378815
89MP0005671_abnormal_response_to1.20680085
90MP0004087_abnormal_muscle_fiber1.20449230
91MP0001440_abnormal_grooming_behavior1.20194883
92MP0005464_abnormal_platelet_physiology1.18795251
93MP0004084_abnormal_cardiac_muscle1.18475568
94MP0006276_abnormal_autonomic_nervous1.17059596
95MP0003091_abnormal_cell_migration1.17025114
96MP0004510_myositis1.16438011
97MP0004085_abnormal_heartbeat1.15614484
98MP0000955_abnormal_spinal_cord1.14688100
99MP0005385_cardiovascular_system_phenoty1.14055799
100MP0001544_abnormal_cardiovascular_syste1.14055799
101MP0003195_calcinosis1.13860174
102MP0004947_skin_inflammation1.11348657
103MP0003656_abnormal_erythrocyte_physiolo1.11257343
104MP0002557_abnormal_social/conspecific_i1.11083172
105MP0004036_abnormal_muscle_relaxation1.10870953
106MP0002420_abnormal_adaptive_immunity1.10589537
107MP0003279_aneurysm1.10482487
108MP0010155_abnormal_intestine_physiology1.10097237
109MP0001819_abnormal_immune_cell1.10054599
110MP0000685_abnormal_immune_system1.10028702
111MP0008469_abnormal_protein_level1.08812574
112MP0002138_abnormal_hepatobiliary_system1.08729651
113MP0005584_abnormal_enzyme/coenzyme_acti1.08712630
114MP0001851_eye_inflammation1.08471125
115MP0008872_abnormal_physiological_respon1.07958561
116MP0006138_congestive_heart_failure1.06063404
117MP0006054_spinal_hemorrhage1.05537724
118MP0002078_abnormal_glucose_homeostasis1.04025246
119MP0005397_hematopoietic_system_phenotyp1.03241250
120MP0001545_abnormal_hematopoietic_system1.03241250
121MP0005167_abnormal_blood-brain_barrier1.02515654
122MP0004883_abnormal_blood_vessel1.01087383
123MP0003137_abnormal_impulse_conducting0.99932579
124MP0000604_amyloidosis0.99835042
125MP0001853_heart_inflammation0.99592243
126MP0003698_abnormal_male_reproductive0.99189888
127MP0003646_muscle_fatigue0.99025774
128MP0001765_abnormal_ion_homeostasis0.98907209
129MP0008874_decreased_physiological_sensi0.98036691
130MP0004043_abnormal_pH_regulation0.97547617
131MP0004233_abnormal_muscle_weight0.96799985
132MP0002405_respiratory_system_inflammati0.95735828
133MP0000465_gastrointestinal_hemorrhage0.94249796
134MP0005448_abnormal_energy_balance0.93894812
135MP0003566_abnormal_cell_adhesion0.93640030
136MP0003075_altered_response_to0.93254838
137MP0001666_abnormal_nutrient_absorption0.92566331
138MP0010630_abnormal_cardiac_muscle0.91170875
139MP0002184_abnormal_innervation0.90706242
140MP0005332_abnormal_amino_acid0.90542696
141MP0002066_abnormal_motor_capabilities/c0.90348716
142MP0002269_muscular_atrophy0.89494507
143MP0002876_abnormal_thyroid_physiology0.88282675
144MP0000013_abnormal_adipose_tissue0.87166035
145MP0005666_abnormal_adipose_tissue0.87130118
146MP0003631_nervous_system_phenotype0.86704086
147MP0002069_abnormal_eating/drinking_beha0.86604383
148MP0005330_cardiomyopathy0.85882016
149MP0001727_abnormal_embryo_implantation0.85828427
150MP0006036_abnormal_mitochondrial_physio0.85300382
151MP0008260_abnormal_autophagy0.85210943
152MP0004484_altered_response_of0.84726117
153MP0003448_altered_tumor_morphology0.84011778
154MP0000249_abnormal_blood_vessel0.83630494
155MP0001502_abnormal_circadian_rhythm0.83380206
156MP0002971_abnormal_brown_adipose0.83299011
157MP0005595_abnormal_vascular_smooth0.82886729
158MP0005620_abnormal_muscle_contractility0.82769378
159MP0003191_abnormal_cellular_cholesterol0.82408091
160MP0009763_increased_sensitivity_to0.79717469
161MP0003953_abnormal_hormone_level0.79659643
162MP0003283_abnormal_digestive_organ0.79289540
163MP0002972_abnormal_cardiac_muscle0.78840039
164MP0009278_abnormal_bone_marrow0.78386440
165MP0003221_abnormal_cardiomyocyte_apopto0.78085634
166MP0000747_muscle_weakness0.78007603
167MP0002127_abnormal_cardiovascular_syste0.77489503
168MP0005319_abnormal_enzyme/_coenzyme0.75898126
169MP0003045_fibrosis0.75218907
170MP0000230_abnormal_systemic_arterial0.75155596
171MP0004885_abnormal_endolymph0.74949365
172MP0008775_abnormal_heart_ventricle0.72963792
173MP0001984_abnormal_olfaction0.72261659
174MP0001348_abnormal_lacrimal_gland0.72153508

Predicted human phenotypes

RankGene SetZ-score
1Myokymia (HP:0002411)4.82287904
2Focal motor seizures (HP:0011153)4.35079657
3Papilledema (HP:0001085)4.29762049
4Abnormality of liposaccharide metabolism (HP:0010968)4.19395616
5Abnormality of glycosphingolipid metabolism (HP:0004343)4.19395616
6Abnormality of glycolipid metabolism (HP:0010969)4.19395616
7Visual hallucinations (HP:0002367)4.17830920
8Abnormality of the lower motor neuron (HP:0002366)3.88748321
9Hyporeflexia of lower limbs (HP:0002600)3.56171042
10Focal seizures (HP:0007359)3.48597110
11Stomatitis (HP:0010280)3.46291639
12* Asymmetric septal hypertrophy (HP:0001670)3.43999153
13Ventricular tachycardia (HP:0004756)3.36121498
14Muscle fiber splitting (HP:0003555)3.35685662
15* Atrial fibrillation (HP:0005110)3.33332983
16Dynein arm defect of respiratory motile cilia (HP:0012255)3.13469259
17Absent/shortened dynein arms (HP:0200106)3.13469259
18Dysostosis multiplex (HP:0000943)3.10317107
19Abnormality of macrophages (HP:0004311)3.08981899
20Exercise-induced myalgia (HP:0003738)3.06998677
21Action tremor (HP:0002345)3.04085327
22Orchitis (HP:0100796)3.01829773
23* Primary atrial arrhythmia (HP:0001692)3.01503277
24Impaired vibration sensation in the lower limbs (HP:0002166)3.00226282
25Myositis (HP:0100614)2.96906187
26Progressive cerebellar ataxia (HP:0002073)2.95908497
27Abnormality of mucopolysaccharide metabolism (HP:0011020)2.92651162
28Abnormality of polysaccharide metabolism (HP:0011012)2.92651162
29Abnormality of glycosaminoglycan metabolism (HP:0004371)2.92651162
30Right ventricular cardiomyopathy (HP:0011663)2.88155513
31Urinary glycosaminoglycan excretion (HP:0003541)2.85552105
32Mucopolysacchariduria (HP:0008155)2.85552105
33Lipoatrophy (HP:0100578)2.85303697
34Retrobulbar optic neuritis (HP:0100654)2.83460321
35Optic neuritis (HP:0100653)2.83460321
36* Supraventricular tachycardia (HP:0004755)2.83239580
37Poor eye contact (HP:0000817)2.82791196
38Ventricular fibrillation (HP:0001663)2.82464976
39Eczematoid dermatitis (HP:0000976)2.80429150
40Abnormal social behavior (HP:0012433)2.79499203
41Impaired social interactions (HP:0000735)2.79499203
42* Supraventricular arrhythmia (HP:0005115)2.77075528
43* Ventricular arrhythmia (HP:0004308)2.76788864
44Myoglobinuria (HP:0002913)2.75335504
45Ketoacidosis (HP:0001993)2.74181903
46Distal lower limb muscle weakness (HP:0009053)2.74067040
47Increased cerebral lipofuscin (HP:0011813)2.72507308
48Postural instability (HP:0002172)2.71243302
49Abnormal gallbladder physiology (HP:0012438)2.71110858
50Cholecystitis (HP:0001082)2.71110858
51Ketosis (HP:0001946)2.69310509
52Sudden death (HP:0001699)2.65926251
53Epileptic encephalopathy (HP:0200134)2.64981426
54Depression (HP:0000716)2.59086726
55Dysmetric saccades (HP:0000641)2.58768330
56Recurrent gram-negative bacterial infections (HP:0005420)2.58445791
57Loss of speech (HP:0002371)2.58180516
58Recurrent abscess formation (HP:0002722)2.55957236
59Elevated erythrocyte sedimentation rate (HP:0003565)2.53738540
60Recurrent bacterial skin infections (HP:0005406)2.51622584
61Vacuolated lymphocytes (HP:0001922)2.50797182
62Amyloidosis (HP:0011034)2.49465758
63Progressive inability to walk (HP:0002505)2.46613797
64Febrile seizures (HP:0002373)2.44967666
65Spondylolisthesis (HP:0003302)2.44318282
66EMG: myopathic abnormalities (HP:0003458)2.43616330
67Supranuclear gaze palsy (HP:0000605)2.42148643
68Ankle clonus (HP:0011448)2.40172088
69Abnormal eating behavior (HP:0100738)2.37783523
70Hypoglycemic coma (HP:0001325)2.37691382
71Gaze-evoked nystagmus (HP:0000640)2.33376734
72Torticollis (HP:0000473)2.32478130
73Dilated cardiomyopathy (HP:0001644)2.31548487
74Focal dystonia (HP:0004373)2.31375388
75* Heart block (HP:0012722)2.28290931
76Deep venous thrombosis (HP:0002625)2.26832441
77Impaired vibratory sensation (HP:0002495)2.25085890
78* Abnormal atrioventricular conduction (HP:0005150)2.23787816
79Scanning speech (HP:0002168)2.23518399
80Hyperacusis (HP:0010780)2.23248241
81Urinary bladder sphincter dysfunction (HP:0002839)2.23127426
82Abnormality of the calf musculature (HP:0001430)2.21378809
83Anxiety (HP:0000739)2.21335858
84Syncope (HP:0001279)2.20691340
85Urinary urgency (HP:0000012)2.20286371
86Generalized tonic-clonic seizures (HP:0002069)2.19734881
87Hyperventilation (HP:0002883)2.19570469
88Pheochromocytoma (HP:0002666)2.19403441
89Increased neuronal autofluorescent lipopigment (HP:0002074)2.19380632
90Hyperammonemia (HP:0001987)2.19020683
91Mutism (HP:0002300)2.18784328
92Neurofibrillary tangles (HP:0002185)2.18694167
93Ragged-red muscle fibers (HP:0003200)2.18200582
94* Palpitations (HP:0001962)2.17520411
95Amyotrophic lateral sclerosis (HP:0007354)2.16737726
96Genetic anticipation (HP:0003743)2.16413715
97Systemic lupus erythematosus (HP:0002725)2.15504742
98Craniofacial dystonia (HP:0012179)2.15332044
99Disinhibition (HP:0000734)2.15034912
100Hypercortisolism (HP:0001578)2.13406728
101Truncal ataxia (HP:0002078)2.12550219
102Subaortic stenosis (HP:0001682)2.12324241
103Abnormality of the left ventricular outflow tract (HP:0011103)2.12324241
104Agitation (HP:0000713)2.10447147
105Bradykinesia (HP:0002067)2.08383664
106Status epilepticus (HP:0002133)2.07572013
107* Abnormal EKG (HP:0003115)2.06114926
108Infertility (HP:0000789)2.04619238
109Elfin facies (HP:0004428)2.04273931
110Increased CSF protein (HP:0002922)2.04164557
111Pulmonary infiltrates (HP:0002113)2.02745622
112Nuclear cataract (HP:0100018)2.01995781
113* Atrioventricular block (HP:0001678)2.01636876
114Spinal canal stenosis (HP:0003416)2.01438448
115Amblyopia (HP:0000646)2.00515020
116Impaired smooth pursuit (HP:0007772)2.00313736
117Dysdiadochokinesis (HP:0002075)2.00004804
118Prolonged QT interval (HP:0001657)1.99793810
119Abnormality of ocular smooth pursuit (HP:0000617)1.99686774
120Insomnia (HP:0100785)1.99480019
121Neonatal onset (HP:0003623)1.99127627
122Absence seizures (HP:0002121)1.98586328
123Annular pancreas (HP:0001734)1.96774297
124Sensorimotor neuropathy (HP:0007141)1.95022247
125Hemoptysis (HP:0002105)1.92377827
126Hemiplegia (HP:0002301)1.92059126
127Spontaneous abortion (HP:0005268)1.90623556
128Hematochezia (HP:0002573)1.90394810
129Pointed chin (HP:0000307)1.89386894
130Abnormality of aromatic amino acid family metabolism (HP:0004338)1.86765116
131Keratoconjunctivitis sicca (HP:0001097)1.86617953
132Intention tremor (HP:0002080)1.85878406
133Abnormality of monocarboxylic acid metabolism (HP:0010996)1.85559839
134Axonal loss (HP:0003447)1.85397965
135Vertigo (HP:0002321)1.85340118
136Abnormality of fatty-acid metabolism (HP:0004359)1.85127983
137Frequent falls (HP:0002359)1.84628435
138Atonic seizures (HP:0010819)1.83100650
139Abnormality of the endocardium (HP:0004306)1.82899001
140Malnutrition (HP:0004395)1.82855879
141Inability to walk (HP:0002540)1.82628895
142Arterial thrombosis (HP:0004420)1.82460314
143Episodic fever (HP:0001954)1.81793571
144Mediastinal lymphadenopathy (HP:0100721)1.81788701
145Myocardial infarction (HP:0001658)1.80686961
146Renovascular hypertension (HP:0100817)1.79660466
147Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.79338261
148Dialeptic seizures (HP:0011146)1.79270184
149Metaphyseal dysplasia (HP:0100255)1.79257437
150Termporal pattern (HP:0011008)1.78908906
151Insidious onset (HP:0003587)1.78908906
152Drooling (HP:0002307)1.78292176
153Excessive salivation (HP:0003781)1.78292176
154Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.77934636
155* Bundle branch block (HP:0011710)1.77303007
156Distal lower limb amyotrophy (HP:0008944)1.77235200
157Lower limb muscle weakness (HP:0007340)1.77158004
158Oligomenorrhea (HP:0000876)1.77065731
159Dysmetria (HP:0001310)1.76942537
160Neuroendocrine neoplasm (HP:0100634)1.76396691
161Neck muscle weakness (HP:0000467)1.75877356
162Intrahepatic cholestasis (HP:0001406)1.75694467
163Progressive neurologic deterioration (HP:0002344)1.73819280
164Long toe (HP:0010511)1.72993202
165* Sudden cardiac death (HP:0001645)1.72900427
166Complement deficiency (HP:0004431)1.72737954
167Clonus (HP:0002169)1.72076187
168Growth hormone excess (HP:0000845)1.71812683
169Cerebral inclusion bodies (HP:0100314)1.71655976
170Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.71438761
171Impaired pain sensation (HP:0007328)1.71396848
172Abnormality of pain sensation (HP:0010832)1.71396848
173Lymphangioma (HP:0100764)1.71282225
174Keratoconjunctivitis (HP:0001096)1.71027887
175Slow saccadic eye movements (HP:0000514)1.70940201
176Recurrent skin infections (HP:0001581)1.70684614
177Abnormality of saccadic eye movements (HP:0000570)1.70558097
178Vasculitis (HP:0002633)1.70126988
179Recurrent fungal infections (HP:0002841)1.67847266
180Pulmonary embolism (HP:0002204)1.67335208
181Interstitial pulmonary disease (HP:0006530)1.65656058
182Osteolytic defects of the hand bones (HP:0009699)1.65187969
183Osteolytic defects of the phalanges of the hand (HP:0009771)1.65187969
184Calf muscle hypertrophy (HP:0008981)1.63407832
185Polyneuropathy (HP:0001271)1.61088267
186Muscle hypertrophy of the lower extremities (HP:0008968)1.59620557
187Abnormality of proline metabolism (HP:0010907)1.59206716
188Hydroxyprolinuria (HP:0003080)1.59206716
189Centrally nucleated skeletal muscle fibers (HP:0003687)1.58216131
190Muscle fibrillation (HP:0010546)1.57788937
191Glomerulonephritis (HP:0000099)1.56928002

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.09056474
2IRAK33.12363687
3MAP3K93.08128295
4PDK33.01030062
5PDK43.01030062
6DAPK22.82963277
7MARK12.75844773
8PRKD32.70755643
9EPHA42.58800596
10MINK12.48680434
11TRPM72.29669623
12MAP3K32.28707203
13MAP3K42.22658709
14CAMKK12.21986545
15LMTK22.17909828
16TGFBR22.11885742
17MAP2K32.11640135
18PKN22.09537380
19GRK72.04892506
20TRIB31.94145533
21KSR21.89377023
22MAP2K71.85711673
23MAP2K41.83684951
24MAP3K141.83656056
25TTN1.81252699
26TYK21.78713702
27TBK11.77894714
28DAPK11.70199132
29BLK1.67769859
30ZAP701.65747916
31STK381.57878741
32RIPK11.57699735
33MAP3K121.56950930
34MOS1.55022851
35PAK61.50616090
36CSK1.49482736
37EPHB11.49328247
38FRK1.47358325
39DMPK1.43742408
40TXK1.43461019
41BMPR21.38359282
42CAMKK21.36037494
43JAK11.33572013
44RET1.33339437
45OBSCN1.32665697
46PDK21.30036310
47PTK2B1.29741920
48PHKG11.28886188
49PHKG21.28886188
50MAP3K51.27887569
51KSR11.25955023
52ACVR1B1.25909310
53TAOK11.25297560
54IRAK41.24639021
55ARAF1.24602590
56PDK11.22959771
57MAP3K21.22805170
58NEK11.21371364
59BCKDK1.19819276
60JAK31.17083878
61TESK11.17002476
62MAPK131.16406318
63IKBKE1.16342914
64NTRK21.14733588
65CDK51.14619530
66PINK11.14358972
67NTRK11.12755466
68CAMK1G1.12039037
69STK241.09681937
70IRAK11.09381136
71MAPK71.09021339
72TAOK21.05807728
73KIT1.05789301
74CAMK11.03171846
75TAOK31.02092620
76MAP3K131.01913706
77SGK31.01610309
78MAP4K11.00889195
79MAP3K110.98316875
80IKBKB0.95987300
81RIPK40.95270166
82CAMK2D0.94746740
83PRKCG0.92824941
84CAMK1D0.91278324
85PDPK10.89152659
86MAP2K60.89066594
87PRKCH0.88545939
88PRPF4B0.86542049
89MATK0.86175531
90FES0.85362044
91PIK3CG0.85269461
92LIMK10.84948395
93TNIK0.83996877
94SGK20.83605153
95MYLK0.81041078
96STK38L0.80834989
97MAP3K10.80696534
98SIK20.80578771
99ABL20.78569962
100PRKAA20.77933214
101PAK20.77664328
102IRAK20.77433223
103MAP3K70.75971528
104SYK0.75563741
105FGR0.75113767
106CDC42BPA0.74353593
107SIK30.73918848
108PRKG20.73520288
109NEK90.72734020
110HCK0.72103033
111STK100.71891853
112SCYL20.71555869
113LATS20.69997415
114TYRO30.68695224
115JAK20.66542742
116STK110.65193920
117BRD40.64136499
118CSF1R0.63096913
119GRK50.62835227
120CDK190.61895007
121MAPKAPK30.61458030
122MARK20.61410338
123ROCK10.60303154
124PRKD10.60155008
125MST40.59518129
126ITK0.59408780
127ALK0.59297560
128ICK0.59149140
129SGK2230.58236048
130SGK4940.58236048
131DDR20.57077909
132TIE10.57073486
133PRKCZ0.56585438
134DAPK30.54371132
135LCK0.53777195
136SGK10.52901197
137CAMK2A0.52716312
138PIM20.52666134
139ROCK20.51458469
140PDGFRB0.50937202
141INSRR0.50675381
142RPS6KA20.50196180
143FER0.49513471
144EPHA30.48991124
145UHMK10.48767191
146CAMK40.48631871
147ADRBK20.48165781
148PRKCE0.47844849
149MAPK40.44454779
150FLT30.44098697
151MAP3K60.42729068
152RPS6KA30.42079881
153PRKACG0.41665002
154PDGFRA0.40573304
155PAK30.39222665
156WNK40.38455104
157MAPK120.37333482
158MAP2K10.37167885
159SIK10.36862671
160FGFR40.36657310
161PRKAA10.35790195
162FGFR30.35280813
163RAF10.35042749
164FYN0.34533144
165ERN10.33833837
166RPS6KB10.33660689
167MUSK0.31394655

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.46470568
2Nitrogen metabolism_Homo sapiens_hsa009102.41184299
3Osteoclast differentiation_Homo sapiens_hsa043802.24970433
4Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.19178935
5Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.15179458
6Caffeine metabolism_Homo sapiens_hsa002322.09379566
7Circadian entrainment_Homo sapiens_hsa047132.08352723
8Synaptic vesicle cycle_Homo sapiens_hsa047212.08098176
9Long-term potentiation_Homo sapiens_hsa047202.01247544
10Olfactory transduction_Homo sapiens_hsa047402.00167724
11Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.97574892
12Fatty acid degradation_Homo sapiens_hsa000711.92086264
13Leishmaniasis_Homo sapiens_hsa051401.89618382
14Other glycan degradation_Homo sapiens_hsa005111.86699131
15Lysosome_Homo sapiens_hsa041421.84635307
16Amphetamine addiction_Homo sapiens_hsa050311.79819456
17Toll-like receptor signaling pathway_Homo sapiens_hsa046201.76847253
18Glycosaminoglycan degradation_Homo sapiens_hsa005311.76646866
19Insulin secretion_Homo sapiens_hsa049111.74748610
20Nicotine addiction_Homo sapiens_hsa050331.73552197
212-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.71228480
22Rheumatoid arthritis_Homo sapiens_hsa053231.69957849
23Legionellosis_Homo sapiens_hsa051341.69257054
24Propanoate metabolism_Homo sapiens_hsa006401.68658756
25NOD-like receptor signaling pathway_Homo sapiens_hsa046211.63938719
26Tuberculosis_Homo sapiens_hsa051521.63618500
27Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.61590099
28Glutamatergic synapse_Homo sapiens_hsa047241.61153756
29Aldosterone synthesis and secretion_Homo sapiens_hsa049251.59309973
30Staphylococcus aureus infection_Homo sapiens_hsa051501.55486724
31Salivary secretion_Homo sapiens_hsa049701.54061466
32* Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.52405802
33Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.51738624
34GABAergic synapse_Homo sapiens_hsa047271.51295127
35Malaria_Homo sapiens_hsa051441.50681736
36Gastric acid secretion_Homo sapiens_hsa049711.49873566
37Bile secretion_Homo sapiens_hsa049761.48483881
38TNF signaling pathway_Homo sapiens_hsa046681.45990299
39Fatty acid metabolism_Homo sapiens_hsa012121.45962248
40Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.45914255
41Dopaminergic synapse_Homo sapiens_hsa047281.45261744
42Primary bile acid biosynthesis_Homo sapiens_hsa001201.44746507
43Morphine addiction_Homo sapiens_hsa050321.43922507
44Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.43830948
45Arginine biosynthesis_Homo sapiens_hsa002201.43389471
46Allograft rejection_Homo sapiens_hsa053301.42698156
47Pertussis_Homo sapiens_hsa051331.41971968
48Type II diabetes mellitus_Homo sapiens_hsa049301.40655137
49Type I diabetes mellitus_Homo sapiens_hsa049401.39425073
50Graft-versus-host disease_Homo sapiens_hsa053321.37587025
51African trypanosomiasis_Homo sapiens_hsa051431.37039873
52Pyruvate metabolism_Homo sapiens_hsa006201.35273603
53Butanoate metabolism_Homo sapiens_hsa006501.34359235
54Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.32813302
55PPAR signaling pathway_Homo sapiens_hsa033201.32517319
56Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.30962475
57Amoebiasis_Homo sapiens_hsa051461.27817237
58NF-kappa B signaling pathway_Homo sapiens_hsa040641.27653614
59Renin secretion_Homo sapiens_hsa049241.27545006
60* Glucagon signaling pathway_Homo sapiens_hsa049221.27251880
61Cholinergic synapse_Homo sapiens_hsa047251.25402075
62Salmonella infection_Homo sapiens_hsa051321.23215808
63Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.22367214
64Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.22332012
65Toxoplasmosis_Homo sapiens_hsa051451.22189606
66Viral myocarditis_Homo sapiens_hsa054161.18013353
67Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.16576741
68Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.15294644
69RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.14050437
70* Oxytocin signaling pathway_Homo sapiens_hsa049211.12989367
71Taste transduction_Homo sapiens_hsa047421.09980368
72Calcium signaling pathway_Homo sapiens_hsa040201.09966159
73Carbohydrate digestion and absorption_Homo sapiens_hsa049731.09937794
74Autoimmune thyroid disease_Homo sapiens_hsa053201.06514259
75Jak-STAT signaling pathway_Homo sapiens_hsa046301.06210212
76Phagosome_Homo sapiens_hsa041451.01271684
77Hematopoietic cell lineage_Homo sapiens_hsa046400.99017079
78Platelet activation_Homo sapiens_hsa046110.97628874
79Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.97407508
80Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.96893794
81GnRH signaling pathway_Homo sapiens_hsa049120.96124271
82Leukocyte transendothelial migration_Homo sapiens_hsa046700.95929841
83Carbon metabolism_Homo sapiens_hsa012000.95913046
84Fatty acid biosynthesis_Homo sapiens_hsa000610.95023247
85cAMP signaling pathway_Homo sapiens_hsa040240.94962837
86Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.94870532
87B cell receptor signaling pathway_Homo sapiens_hsa046620.94540715
88Glycerolipid metabolism_Homo sapiens_hsa005610.94300151
89SNARE interactions in vesicular transport_Homo sapiens_hsa041300.93173391
90cGMP-PKG signaling pathway_Homo sapiens_hsa040220.91906924
91Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.91850709
92Influenza A_Homo sapiens_hsa051640.91691053
93Prolactin signaling pathway_Homo sapiens_hsa049170.91190808
94Chemokine signaling pathway_Homo sapiens_hsa040620.89764387
95Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.89578642
96Cocaine addiction_Homo sapiens_hsa050300.89169579
97Sulfur metabolism_Homo sapiens_hsa009200.88704288
98AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.86701916
99Phosphatidylinositol signaling system_Homo sapiens_hsa040700.86058652
100Mineral absorption_Homo sapiens_hsa049780.84341445
101Measles_Homo sapiens_hsa051620.84185335
102Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.83800330
103Tryptophan metabolism_Homo sapiens_hsa003800.83655995
104Asthma_Homo sapiens_hsa053100.83617762
105Intestinal immune network for IgA production_Homo sapiens_hsa046720.83317930
106* Insulin signaling pathway_Homo sapiens_hsa049100.82972026
107Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.82470079
108Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.82422516
109Estrogen signaling pathway_Homo sapiens_hsa049150.81717733
110Long-term depression_Homo sapiens_hsa047300.80336755
111Glioma_Homo sapiens_hsa052140.79591234
112Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.79339589
113Collecting duct acid secretion_Homo sapiens_hsa049660.76997011
114Thyroid hormone synthesis_Homo sapiens_hsa049180.76882059
115Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.76818361
116Hepatitis C_Homo sapiens_hsa051600.74370274
117Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.72591852
118Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.71862259
119T cell receptor signaling pathway_Homo sapiens_hsa046600.71079476
120Dorso-ventral axis formation_Homo sapiens_hsa043200.70190177
121Cardiac muscle contraction_Homo sapiens_hsa042600.69181995
122Sphingolipid metabolism_Homo sapiens_hsa006000.67089086
123Sphingolipid signaling pathway_Homo sapiens_hsa040710.66557750
124Gap junction_Homo sapiens_hsa045400.66480445
125Shigellosis_Homo sapiens_hsa051310.65409387
126Thyroid hormone signaling pathway_Homo sapiens_hsa049190.63480441
127* Adipocytokine signaling pathway_Homo sapiens_hsa049200.63274796
128Central carbon metabolism in cancer_Homo sapiens_hsa052300.62716370
129* Insulin resistance_Homo sapiens_hsa049310.61663382
130Vascular smooth muscle contraction_Homo sapiens_hsa042700.60901026
131Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.60024756
132Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.59862529
133Neurotrophin signaling pathway_Homo sapiens_hsa047220.59615041
134VEGF signaling pathway_Homo sapiens_hsa043700.58770240
135ABC transporters_Homo sapiens_hsa020100.58763116
136Acute myeloid leukemia_Homo sapiens_hsa052210.58228573
137Dilated cardiomyopathy_Homo sapiens_hsa054140.57869815
138Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.57814270
139* Circadian rhythm_Homo sapiens_hsa047100.57717694
140Ovarian steroidogenesis_Homo sapiens_hsa049130.56319615
141Biosynthesis of amino acids_Homo sapiens_hsa012300.55847922
142Prion diseases_Homo sapiens_hsa050200.53734985
143Oocyte meiosis_Homo sapiens_hsa041140.53658538
144mTOR signaling pathway_Homo sapiens_hsa041500.53123733
145Serotonergic synapse_Homo sapiens_hsa047260.53036076
146Melanogenesis_Homo sapiens_hsa049160.52757882
147* Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.52476887
148Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.51856915
149* Longevity regulating pathway - mammal_Homo sapiens_hsa042110.51666757
150Focal adhesion_Homo sapiens_hsa045100.51359636
151Antigen processing and presentation_Homo sapiens_hsa046120.51274259
152Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.51266140
153Phospholipase D signaling pathway_Homo sapiens_hsa040720.51125786
154Endocytosis_Homo sapiens_hsa041440.50997288
155Pancreatic secretion_Homo sapiens_hsa049720.50383154
156Starch and sucrose metabolism_Homo sapiens_hsa005000.49708633
157Renal cell carcinoma_Homo sapiens_hsa052110.49669129
158ErbB signaling pathway_Homo sapiens_hsa040120.49340797
159* AMPK signaling pathway_Homo sapiens_hsa041520.48084272
160Vibrio cholerae infection_Homo sapiens_hsa051100.48006046
161Regulation of actin cytoskeleton_Homo sapiens_hsa048100.44506133
162Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.44120822
163Lysine degradation_Homo sapiens_hsa003100.43799538
164Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.43130890
165Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.40167099
166Complement and coagulation cascades_Homo sapiens_hsa046100.39732371
167beta-Alanine metabolism_Homo sapiens_hsa004100.38894514
168Choline metabolism in cancer_Homo sapiens_hsa052310.37479791
169Peroxisome_Homo sapiens_hsa041460.37420546
170Fat digestion and absorption_Homo sapiens_hsa049750.37289304
171Glycerophospholipid metabolism_Homo sapiens_hsa005640.36396309

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