GCK

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: Hexokinases phosphorylate glucose to produce glucose-6-phosphate, the first step in most glucose metabolism pathways. Alternative splicing of this gene results in three tissue-specific forms of glucokinase, one found in pancreatic islet beta cells and two found in liver. The protein localizes to the outer membrane of mitochondria. In contrast to other forms of hexokinase, this enzyme is not inhibited by its product glucose-6-phosphate but remains active while glucose is abundant. Mutations in this gene have been associated with non-insulin dependent diabetes mellitus (NIDDM), maturity onset diabetes of the young, type 2 (MODY2) and persistent hyperinsulinemic hypoglycemia of infancy (PHHI). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.57455233
2L-phenylalanine catabolic process (GO:0006559)7.57455233
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.23348191
4L-phenylalanine metabolic process (GO:0006558)7.23348191
5aromatic amino acid family catabolic process (GO:0009074)6.68986816
6triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.18519402
7indole-containing compound catabolic process (GO:0042436)5.93627220
8indolalkylamine catabolic process (GO:0046218)5.93627220
9tryptophan catabolic process (GO:0006569)5.93627220
10kynurenine metabolic process (GO:0070189)5.82597515
11bile acid biosynthetic process (GO:0006699)5.73542883
12tryptophan metabolic process (GO:0006568)5.63736998
13alpha-linolenic acid metabolic process (GO:0036109)5.60828375
14regulation of type B pancreatic cell apoptotic process (GO:2000674)5.59307850
15glyoxylate metabolic process (GO:0046487)5.52162620
16high-density lipoprotein particle remodeling (GO:0034375)5.43528808
17negative regulation of fibrinolysis (GO:0051918)5.30944605
18urea metabolic process (GO:0019627)5.26090160
19urea cycle (GO:0000050)5.26090160
20peptidyl-glutamic acid carboxylation (GO:0017187)5.24297018
21protein carboxylation (GO:0018214)5.24297018
22response to dietary excess (GO:0002021)5.16545892
23regulation of fibrinolysis (GO:0051917)5.14542164
24complement activation, alternative pathway (GO:0006957)5.10270096
25regulation of protein activation cascade (GO:2000257)5.04213529
26* endocrine pancreas development (GO:0031018)5.00274567
27sulfur amino acid catabolic process (GO:0000098)4.99149920
28bile acid metabolic process (GO:0008206)4.97453421
29regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022354.96523057
30glandular epithelial cell differentiation (GO:0002067)4.95097320
31regulation of cholesterol esterification (GO:0010872)4.88485453
32aromatic amino acid family metabolic process (GO:0009072)4.87932200
33cysteine metabolic process (GO:0006534)4.87135764
34nitrogen cycle metabolic process (GO:0071941)4.85157118
35fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.81122491
36serine family amino acid catabolic process (GO:0009071)4.76153150
37tyrosine metabolic process (GO:0006570)4.73362595
38regulation of triglyceride catabolic process (GO:0010896)4.71907879
39reverse cholesterol transport (GO:0043691)4.70301747
40regulation of complement activation (GO:0030449)4.69093438
41phospholipid efflux (GO:0033700)4.64654357
42triglyceride homeostasis (GO:0070328)4.63545198
43acylglycerol homeostasis (GO:0055090)4.63545198
44protein-lipid complex remodeling (GO:0034368)4.63130343
45macromolecular complex remodeling (GO:0034367)4.63130343
46plasma lipoprotein particle remodeling (GO:0034369)4.63130343
47lactate metabolic process (GO:0006089)4.56574499
48lysine catabolic process (GO:0006554)4.50384506
49lysine metabolic process (GO:0006553)4.50384506
50alpha-amino acid catabolic process (GO:1901606)4.47650781
51negative regulation of sterol transport (GO:0032372)4.47648049
52negative regulation of cholesterol transport (GO:0032375)4.47648049
53positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.47324771
54nitric oxide mediated signal transduction (GO:0007263)4.42738695
55coenzyme catabolic process (GO:0009109)4.40709811
56cellular ketone body metabolic process (GO:0046950)4.38418997
57homocysteine metabolic process (GO:0050667)4.37045492
58insulin secretion (GO:0030073)4.36909591
59type B pancreatic cell development (GO:0003323)4.35281738
60bile acid and bile salt transport (GO:0015721)4.35222239
61indolalkylamine metabolic process (GO:0006586)4.33060993
62amino-acid betaine metabolic process (GO:0006577)4.32119635
63plasma lipoprotein particle clearance (GO:0034381)4.23829121
64negative regulation of cytosolic calcium ion concentration (GO:0051481)4.22117934
65chemosensory behavior (GO:0007635)4.18405463
66regulation of glucokinase activity (GO:0033131)4.15556299
67regulation of hexokinase activity (GO:1903299)4.15556299
68cholesterol efflux (GO:0033344)4.13905191
69cellular amino acid catabolic process (GO:0009063)4.12839577
70imidazole-containing compound metabolic process (GO:0052803)4.10329397
71cellular biogenic amine catabolic process (GO:0042402)4.09002052
72amine catabolic process (GO:0009310)4.09002052
73glycine metabolic process (GO:0006544)4.05004888
74benzene-containing compound metabolic process (GO:0042537)4.03534700
75glutamate metabolic process (GO:0006536)4.00849617
76* positive regulation of glycolytic process (GO:0045821)3.99127271
77cellular glucuronidation (GO:0052695)3.96774735
78dendritic spine morphogenesis (GO:0060997)3.96528602
79L-alpha-amino acid transmembrane transport (GO:1902475)3.93402886
80plasma lipoprotein particle assembly (GO:0034377)3.91508944
81cellular modified amino acid catabolic process (GO:0042219)3.89679134
82fatty acid homeostasis (GO:0055089)3.87908720
83ethanol oxidation (GO:0006069)3.85888485
84drug catabolic process (GO:0042737)3.84840725
85synaptic vesicle maturation (GO:0016188)3.81378624
86regulation of short-term neuronal synaptic plasticity (GO:0048172)3.80552939
87serine family amino acid metabolic process (GO:0009069)3.80512622
88dicarboxylic acid biosynthetic process (GO:0043650)3.79795495
89ketone body metabolic process (GO:1902224)3.78832029
90low-density lipoprotein particle remodeling (GO:0034374)3.78030530
91aldehyde catabolic process (GO:0046185)3.74428888
92negative regulation of lipase activity (GO:0060192)3.73923750
93intestinal cholesterol absorption (GO:0030299)3.73412950
94regulation of cholesterol homeostasis (GO:2000188)3.73261645
95fibrinolysis (GO:0042730)3.71674073
96phospholipid homeostasis (GO:0055091)3.70999367
97positive regulation of lipid catabolic process (GO:0050996)3.69789203
98arginine metabolic process (GO:0006525)3.69241893
99very-low-density lipoprotein particle assembly (GO:0034379)3.69042076
100short-chain fatty acid metabolic process (GO:0046459)3.68993545
101positive regulation of triglyceride lipase activity (GO:0061365)3.68702075
102positive regulation of lipoprotein lipase activity (GO:0051006)3.68702075
103cofactor catabolic process (GO:0051187)3.67884873
104organic acid catabolic process (GO:0016054)3.67043112
105carboxylic acid catabolic process (GO:0046395)3.67043112
106regulation of bile acid biosynthetic process (GO:0070857)3.65166469
107complement activation, classical pathway (GO:0006958)3.60512175
108cholesterol homeostasis (GO:0042632)3.60027554
109cytolysis (GO:0019835)3.59888672
110blood coagulation, intrinsic pathway (GO:0007597)3.59481283
111acetyl-CoA metabolic process (GO:0006084)3.57930995
112nodal signaling pathway (GO:0038092)3.57206999
113sterol homeostasis (GO:0055092)3.54124420
114glucuronate metabolic process (GO:0019585)3.53743240
115uronic acid metabolic process (GO:0006063)3.53743240
116complement activation (GO:0006956)3.51672423
117plasma lipoprotein particle organization (GO:0071827)3.51670781
118positive regulation of respiratory burst (GO:0060267)3.50722503
119positive regulation of fatty acid beta-oxidation (GO:0032000)3.50526644
120protein activation cascade (GO:0072376)3.49994205
121positive regulation of growth hormone secretion (GO:0060124)3.48239668
122serine family amino acid biosynthetic process (GO:0009070)3.47521730
123monocarboxylic acid catabolic process (GO:0072329)3.46865352
124* positive regulation of peptide hormone secretion (GO:0090277)3.45333099
125negative regulation of acute inflammatory response (GO:0002674)3.42333569
126detection of calcium ion (GO:0005513)3.38595538
127* positive regulation of peptide secretion (GO:0002793)3.34323087
128* positive regulation of insulin secretion (GO:0032024)3.30020719
129regulation of feeding behavior (GO:0060259)3.29781759
130* regulation of insulin secretion (GO:0050796)3.28807917
131synaptic vesicle docking involved in exocytosis (GO:0016081)3.24079145
132negative regulation of protein oligomerization (GO:0032460)3.23756662
133nucleobase catabolic process (GO:0046113)3.19792556
134presynaptic membrane assembly (GO:0097105)3.17078368
135pyrimidine nucleobase catabolic process (GO:0006208)3.15368492
136negative regulation of hormone biosynthetic process (GO:0032353)3.15132198
137peptide hormone secretion (GO:0030072)3.14422830
138negative regulation of glycogen metabolic process (GO:0070874)3.06619670
139* regulation of peptide hormone secretion (GO:0090276)3.05897492
140peptide hormone processing (GO:0016486)3.05227901
141peptide secretion (GO:0002790)3.03833956
142positive regulation of neurotransmitter transport (GO:0051590)3.03154525
143presynaptic membrane organization (GO:0097090)3.01786118
144glandular epithelial cell development (GO:0002068)3.01253297
145epithelial cell fate commitment (GO:0072148)3.00832223
146* regulation of peptide secretion (GO:0002791)2.98809594
147positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.97210510
148norepinephrine metabolic process (GO:0042415)2.96931604
149regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.95717852
150innervation (GO:0060384)2.92608917
151positive regulation of insulin receptor signaling pathway (GO:0046628)2.92338025
152exocrine pancreas development (GO:0031017)2.90783227
153auditory behavior (GO:0031223)2.87963813
154glutamate secretion (GO:0014047)2.87367702
155positive regulation of protein autophosphorylation (GO:0031954)2.87340771
156regulation of growth hormone secretion (GO:0060123)2.81814060
157regulation of calcium ion-dependent exocytosis (GO:0017158)2.81654227
158cochlea development (GO:0090102)2.80429829
159response to hepatocyte growth factor (GO:0035728)2.79939759
160cellular response to hepatocyte growth factor stimulus (GO:0035729)2.79939759
161negative regulation of Ras GTPase activity (GO:0034261)2.75864066
162negative regulation of insulin secretion (GO:0046676)2.75677374
163water-soluble vitamin biosynthetic process (GO:0042364)2.71116371
164* regulation of hormone secretion (GO:0046883)2.66431925
165neurotransmitter secretion (GO:0007269)2.63114471
166negative regulation of neurological system process (GO:0031645)2.62465352
167negative regulation of hormone metabolic process (GO:0032351)2.62079820
168* response to glucose (GO:0009749)2.60064877
169nucleoside diphosphate catabolic process (GO:0009134)2.59690406
170inositol phosphate catabolic process (GO:0071545)2.59534548
171protein targeting to Golgi (GO:0000042)2.56131141
172peristalsis (GO:0030432)2.56041339
173positive regulation of TOR signaling (GO:0032008)2.54924982
174* positive regulation of hormone secretion (GO:0046887)2.54266021
175regulation of energy homeostasis (GO:2000505)2.53768989
176glycerophospholipid catabolic process (GO:0046475)2.53756440
177cranial nerve development (GO:0021545)2.52367862
178regulation of oxidative phosphorylation (GO:0002082)2.49579562
179positive regulation of neurotransmitter secretion (GO:0001956)2.48175699
180negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.47201533
181negative regulation of peptide hormone secretion (GO:0090278)2.46678553
182establishment of protein localization to Golgi (GO:0072600)2.46526322
183cerebellum development (GO:0021549)2.45549804
184neuron cell-cell adhesion (GO:0007158)2.45492333
185signal release (GO:0023061)2.44498694
186phosphorylated carbohydrate dephosphorylation (GO:0046838)2.44451593
187inositol phosphate dephosphorylation (GO:0046855)2.44451593
188neuromuscular process controlling posture (GO:0050884)2.43884327
189* response to hexose (GO:0009746)2.43030895
190dendritic spine organization (GO:0097061)2.43017400
191axonal fasciculation (GO:0007413)2.42089892
192* negative regulation of gluconeogenesis (GO:0045721)2.40882236
193regulation of synaptic vesicle exocytosis (GO:2000300)2.39592304
194* regulation of peptide transport (GO:0090087)2.37192884
195retrograde transport, vesicle recycling within Golgi (GO:0000301)2.36433877
196phenylpropanoid metabolic process (GO:0009698)2.36424106
197single strand break repair (GO:0000012)2.36096342
198neuron fate determination (GO:0048664)2.35818834

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse8.17751256
2PPARA_22158963_ChIP-Seq_LIVER_Mouse7.02665059
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.68895489
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.40458943
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.27079747
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse5.05091950
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.62683873
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.06660663
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.94372404
10IGF1R_20145208_ChIP-Seq_DFB_Human2.85172048
11GBX2_23144817_ChIP-Seq_PC3_Human2.49866484
12POU3F2_20337985_ChIP-ChIP_501MEL_Human2.44097762
13REST_21632747_ChIP-Seq_MESCs_Mouse2.42441396
14REST_18959480_ChIP-ChIP_MESCs_Mouse2.39986275
15CTBP2_25329375_ChIP-Seq_LNCAP_Human2.27790698
16BMI1_23680149_ChIP-Seq_NPCS_Mouse2.23656016
17ZFP57_27257070_Chip-Seq_ESCs_Mouse2.16688173
18TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.08073294
19ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.4987561
20TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.99011332
21ZNF274_21170338_ChIP-Seq_K562_Hela1.97992996
22HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.94038290
23SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.90028443
24EZH2_27304074_Chip-Seq_ESCs_Mouse1.88061173
25E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.87317888
26GATA1_22025678_ChIP-Seq_K562_Human1.85577146
27CBX2_27304074_Chip-Seq_ESCs_Mouse1.84912933
28P300_19829295_ChIP-Seq_ESCs_Human1.80844589
29* RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.77342859
30FUS_26573619_Chip-Seq_HEK293_Human1.74666526
31FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.71852717
32SALL1_21062744_ChIP-ChIP_HESCs_Human1.69713740
33SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.67847057
34RNF2_27304074_Chip-Seq_NSC_Mouse1.67385829
35FOXA2_19822575_ChIP-Seq_HepG2_Human1.64797837
36CLOCK_20551151_ChIP-Seq_293T_Human1.64394422
37ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.63164109
38HTT_18923047_ChIP-ChIP_STHdh_Human1.61497398
39CTBP1_25329375_ChIP-Seq_LNCAP_Human1.57286438
40SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.55946309
41TAF15_26573619_Chip-Seq_HEK293_Human1.55056120
42SMAD4_21799915_ChIP-Seq_A2780_Human1.54275409
43SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.53334452
44EED_16625203_ChIP-ChIP_MESCs_Mouse1.51978711
45MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.48898789
46SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.48304667
47SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.47495850
48PIAS1_25552417_ChIP-Seq_VCAP_Human1.46310614
49* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.39050573
50HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.38517813
51EWS_26573619_Chip-Seq_HEK293_Human1.38391614
52HNF4A_19822575_ChIP-Seq_HepG2_Human1.38211249
53NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.36220740
54SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.36145803
55SMAD3_21741376_ChIP-Seq_EPCs_Human1.35211914
56AR_25329375_ChIP-Seq_VCAP_Human1.34781715
57IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.32932207
58CBP_20019798_ChIP-Seq_JUKART_Human1.32932207
59HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.32366809
60TOP2B_26459242_ChIP-Seq_MCF-7_Human1.29219624
61JARID2_20064375_ChIP-Seq_MESCs_Mouse1.28888112
62PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.28362997
63STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.27235519
64NR3C1_23031785_ChIP-Seq_PC12_Mouse1.26410817
65STAT3_23295773_ChIP-Seq_U87_Human1.26096941
66NANOG_18555785_Chip-Seq_ESCs_Mouse1.24188375
67SUZ12_27294783_Chip-Seq_ESCs_Mouse1.24032489
68GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.23295927
69RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.19849816
70UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.19806655
71MTF2_20144788_ChIP-Seq_MESCs_Mouse1.19660257
72EZH2_27294783_Chip-Seq_ESCs_Mouse1.18556645
73AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.18474273
74GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.18382317
75OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.16721645
76KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.16628936
77RXRA_24833708_ChIP-Seq_LIVER_Mouse1.15987355
78SOX2_21211035_ChIP-Seq_LN229_Gbm1.13913290
79STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.13728958
80TP53_22573176_ChIP-Seq_HFKS_Human1.13570686
81NANOG_19829295_ChIP-Seq_ESCs_Human1.11676904
82SOX2_19829295_ChIP-Seq_ESCs_Human1.11676904
83TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.11624446
84POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.11624446
85SOX2_27498859_Chip-Seq_STOMACH_Mouse1.11623420
86TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.10316599
87RNF2_27304074_Chip-Seq_ESCs_Mouse1.09879940
88FLI1_27457419_Chip-Seq_LIVER_Mouse1.09339094
89SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.08238927
90TCF4_23295773_ChIP-Seq_U87_Human1.07884721
91RARB_27405468_Chip-Seq_BRAIN_Mouse1.07543170
92THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.07254162
93EZH2_22144423_ChIP-Seq_EOC_Human1.06981854
94IRF1_19129219_ChIP-ChIP_H3396_Human1.06526546
95ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.06334645
96TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06311729
97TAL1_26923725_Chip-Seq_HPCs_Mouse1.05470355
98RUNX2_22187159_ChIP-Seq_PCA_Human1.05041014
99ER_23166858_ChIP-Seq_MCF-7_Human1.03895963
100ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.03852500
101EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.03508879
102KLF5_20875108_ChIP-Seq_MESCs_Mouse1.02733916
103P53_22387025_ChIP-Seq_ESCs_Mouse1.02460042
104FLI1_21867929_ChIP-Seq_TH2_Mouse1.01698492
105CMYC_18555785_Chip-Seq_ESCs_Mouse1.00497421
106EZH2_27294783_Chip-Seq_NPCs_Mouse1.00269645
107RING1B_27294783_Chip-Seq_ESCs_Mouse0.99444994
108VDR_22108803_ChIP-Seq_LS180_Human0.98762344
109ETV2_25802403_ChIP-Seq_MESCs_Mouse0.98416286
110TBL1_22424771_ChIP-Seq_293T_Human0.98048306
111MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.97884919
112TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.97631760
113CDX2_19796622_ChIP-Seq_MESCs_Mouse0.97106126
114FOXA1_25329375_ChIP-Seq_VCAP_Human0.96689325
115FOXA1_27270436_Chip-Seq_PROSTATE_Human0.96689325
116* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.95595746
117MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.94456782
118SMAD4_21741376_ChIP-Seq_EPCs_Human0.94063283
119NR3C1_21868756_ChIP-Seq_MCF10A_Human0.94024957
120ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.88212283
121BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.85278798
122PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.83774065
123SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.82745162
124GATA4_25053715_ChIP-Seq_YYC3_Human0.82157612
125AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.81810259
126RARA_24833708_ChIP-Seq_LIVER_Mouse0.80044153
127AUTS2_25519132_ChIP-Seq_293T-REX_Human0.77827261
128SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.77260464
129RARG_19884340_ChIP-ChIP_MEFs_Mouse0.76186617
130NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.73294320
131IRF8_22096565_ChIP-ChIP_GC-B_Human0.71608327
132FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.70584458
133* KAP1_22055183_ChIP-Seq_ESCs_Mouse0.69477414
134ESR2_21235772_ChIP-Seq_MCF-7_Human0.69382554
135FOXA1_25552417_ChIP-Seq_VCAP_Human0.67060347
136* RARB_24833708_ChIP-Seq_LIVER_Mouse0.66875390
137ESR1_15608294_ChIP-ChIP_MCF-7_Human0.66672908
138PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.66197206
139NRF2_20460467_ChIP-Seq_MEFs_Mouse0.64407670
140NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.64407670
141ZNF263_19887448_ChIP-Seq_K562_Human0.63910671
142BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.63890166
143IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.62225382
144PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.62012366
145SALL4_18804426_ChIP-ChIP_XEN_Mouse0.61773032
146FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.60882746
147RAD21_21589869_ChIP-Seq_MESCs_Mouse0.60745444
148AR_20517297_ChIP-Seq_VCAP_Human0.60169858
149ESR1_21235772_ChIP-Seq_MCF-7_Human0.59901223
150LXR_22292898_ChIP-Seq_THP-1_Human0.59271268
151CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.56917738
152PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.53625927
153SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.52353646
154BCAT_22108803_ChIP-Seq_LS180_Human0.52300346
155NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.51518133
156GATA1_19941826_ChIP-Seq_K562_Human0.51315203
157P53_21459846_ChIP-Seq_SAOS-2_Human0.51044659
158Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.50723873
159* ESET_19884257_ChIP-Seq_ESCs_Mouse0.50508943
160CEBPB_22108803_ChIP-Seq_LS180_Human0.49760221
161CBP_21632823_ChIP-Seq_H3396_Human0.49753959
162ERG_20517297_ChIP-Seq_VCAP_Human0.48641838
163MYC_19915707_ChIP-ChIP_AK7_Human0.47588965
164ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.46826019
165GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.46619564
166GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.45591176
167STAT1_17558387_ChIP-Seq_HELA_Human0.45297707
168PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.44481981
169NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.42629663
170GATA3_24758297_ChIP-Seq_MCF-7_Human0.42475063
171OCT4_20526341_ChIP-Seq_ESCs_Human0.41890892
172GATA6_25053715_ChIP-Seq_YYC3_Human0.41774463
173NCOR_22424771_ChIP-Seq_293T_Human0.41316563
174PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.40909589
175* EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.40705988
176TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.40494790
177SPI1_26923725_Chip-Seq_HPCs_Mouse0.40084418
178FOXO3_23340844_ChIP-Seq_DLD1_Human0.39820098
179CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.39777860
180EGR1_19032775_ChIP-ChIP_M12_Human0.39213112
181TBX20_22080862_ChIP-Seq_HEART_Mouse0.39140678
182TBX20_22328084_ChIP-Seq_HEART_Mouse0.39140678
183SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.38914122
184TAF2_19829295_ChIP-Seq_ESCs_Human0.38726996
185FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.38584366
186GATA1_19941827_ChIP-Seq_MEL_Mouse0.38121725
187RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.38108006
188BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.37888741
189EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.37361648
190* LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.37119242
191ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.36596704
192GATA2_19941826_ChIP-Seq_K562_Human0.35994312

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.34186942
2MP0005360_urolithiasis6.95739940
3MP0005365_abnormal_bile_salt6.33878054
4MP0005085_abnormal_gallbladder_physiolo6.32523619
5MP0008875_abnormal_xenobiotic_pharmacok4.87702422
6MP0003283_abnormal_digestive_organ4.29768735
7MP0003787_abnormal_imprinting4.28205600
8MP0003122_maternal_imprinting4.17123410
9MP0003806_abnormal_nucleotide_metabolis4.11462321
10MP0003252_abnormal_bile_duct3.97905822
11MP0010329_abnormal_lipoprotein_level3.47623976
12MP0003195_calcinosis3.33684727
13MP0009840_abnormal_foam_cell3.22621092
14MP0005083_abnormal_biliary_tract3.21467345
15MP0008877_abnormal_DNA_methylation3.10914429
16MP0003123_paternal_imprinting2.91252317
17MP0001666_abnormal_nutrient_absorption2.73701565
18MP0004270_analgesia2.72130786
19MP0005332_abnormal_amino_acid2.64904427
20MP0003121_genomic_imprinting2.56596686
21MP0005645_abnormal_hypothalamus_physiol2.29715508
22* MP0002118_abnormal_lipid_homeostasis2.15244652
23* MP0000609_abnormal_liver_physiology2.11921662
24MP0002138_abnormal_hepatobiliary_system2.08086339
25MP0003880_abnormal_central_pattern2.07756053
26MP0003191_abnormal_cellular_cholesterol2.07539411
27MP0003868_abnormal_feces_composition2.05893582
28MP0002163_abnormal_gland_morphology2.05035033
29MP0004859_abnormal_synaptic_plasticity2.00075602
30MP0004019_abnormal_vitamin_homeostasis1.97578288
31MP0006072_abnormal_retinal_apoptosis1.93883876
32MP0006276_abnormal_autonomic_nervous1.89264618
33MP0009046_muscle_twitch1.84609501
34MP0005319_abnormal_enzyme/_coenzyme1.76724700
35MP0001984_abnormal_olfaction1.74410457
36MP0001529_abnormal_vocalization1.73813077
37MP0008004_abnormal_stomach_pH1.72652474
38MP0001764_abnormal_homeostasis1.62780246
39MP0009745_abnormal_behavioral_response1.61277109
40MP0002272_abnormal_nervous_system1.56026336
41MP0002734_abnormal_mechanical_nocicepti1.54971605
42MP0003635_abnormal_synaptic_transmissio1.50920903
43MP0009697_abnormal_copulation1.49608632
44MP0001188_hyperpigmentation1.48838803
45MP0005584_abnormal_enzyme/coenzyme_acti1.43149392
46MP0000462_abnormal_digestive_system1.39875900
47MP0002572_abnormal_emotion/affect_behav1.38466376
48MP0002064_seizures1.38265284
49* MP0009643_abnormal_urine_homeostasis1.33156855
50MP0002837_dystrophic_cardiac_calcinosis1.29831253
51MP0002063_abnormal_learning/memory/cond1.28630300
52MP0002102_abnormal_ear_morphology1.27795490
53MP0005220_abnormal_exocrine_pancreas1.27632966
54MP0000631_abnormal_neuroendocrine_gland1.24696514
55MP0005253_abnormal_eye_physiology1.24162238
56MP0002557_abnormal_social/conspecific_i1.23087221
57MP0005451_abnormal_body_composition1.19675122
58* MP0002078_abnormal_glucose_homeostasis1.19273857
59MP0002938_white_spotting1.17063635
60MP0002184_abnormal_innervation1.15946755
61MP0004510_myositis1.15508648
62MP0000778_abnormal_nervous_system1.14481680
63MP0001905_abnormal_dopamine_level1.11717107
64MP0000598_abnormal_liver_morphology1.11234556
65MP0003186_abnormal_redox_activity1.08424168
66MP0005636_abnormal_mineral_homeostasis1.06827338
67MP0002638_abnormal_pupillary_reflex1.06097340
68MP0004133_heterotaxia1.05839678
69MP0003119_abnormal_digestive_system1.05399539
70MP0001440_abnormal_grooming_behavior1.05038005
71MP0001970_abnormal_pain_threshold1.04989580
72MP0005386_behavior/neurological_phenoty1.04695439
73MP0004924_abnormal_behavior1.04695439
74MP0010386_abnormal_urinary_bladder1.04118174
75MP0005647_abnormal_sex_gland1.02160105
76MP0005551_abnormal_eye_electrophysiolog1.01949942
77MP0004885_abnormal_endolymph1.00986919
78MP0001986_abnormal_taste_sensitivity1.00107032
79MP0003011_delayed_dark_adaptation0.99513537
80MP0003656_abnormal_erythrocyte_physiolo0.98305252
81MP0003633_abnormal_nervous_system0.97685285
82MP0004811_abnormal_neuron_physiology0.96483341
83MP0003567_abnormal_fetal_cardiomyocyte0.94716594
84MP0005084_abnormal_gallbladder_morpholo0.94136102
85MP0010368_abnormal_lymphatic_system0.94091761
86MP0006036_abnormal_mitochondrial_physio0.94081220
87MP0000604_amyloidosis0.93687336
88MP0003705_abnormal_hypodermis_morpholog0.93412789
89MP0002069_abnormal_eating/drinking_beha0.93404120
90* MP0009642_abnormal_blood_homeostasis0.93138935
91MP0009763_increased_sensitivity_to0.90648568
92MP0002876_abnormal_thyroid_physiology0.89611245
93MP0010234_abnormal_vibrissa_follicle0.89471104
94MP0000955_abnormal_spinal_cord0.88980002
95MP0001486_abnormal_startle_reflex0.88707821
96MP0005670_abnormal_white_adipose0.88026383
97MP0005408_hypopigmentation0.87880602
98MP0005535_abnormal_body_temperature0.87654649
99MP0004085_abnormal_heartbeat0.85949338
100MP0005423_abnormal_somatic_nervous0.84816364
101MP0002229_neurodegeneration0.84575095
102MP0004043_abnormal_pH_regulation0.84207892
103MP0004145_abnormal_muscle_electrophysio0.83725768
104MP0005334_abnormal_fat_pad0.83193123
105* MP0001944_abnormal_pancreas_morphology0.82948878
106MP0001968_abnormal_touch/_nociception0.82904589
107MP0000516_abnormal_urinary_system0.82711350
108MP0005367_renal/urinary_system_phenotyp0.82711350
109MP0002882_abnormal_neuron_morphology0.81930061
110MP0002733_abnormal_thermal_nociception0.81634289
111MP0009764_decreased_sensitivity_to0.81281920
112MP0002067_abnormal_sensory_capabilities0.79922948
113MP0002735_abnormal_chemical_nociception0.78480742
114MP0002971_abnormal_brown_adipose0.78147932
115MP0001502_abnormal_circadian_rhythm0.78088056
116MP0003879_abnormal_hair_cell0.77827338
117MP0001661_extended_life_span0.77361852
118* MP0008469_abnormal_protein_level0.77042405
119MP0004130_abnormal_muscle_cell0.76801213
120MP0000003_abnormal_adipose_tissue0.75716620
121MP0005376_homeostasis/metabolism_phenot0.74841390
122MP0005448_abnormal_energy_balance0.74754193
123MP0002066_abnormal_motor_capabilities/c0.73771562
124MP0002254_reproductive_system_inflammat0.72453301
125MP0001756_abnormal_urination0.72092446
126* MP0002693_abnormal_pancreas_physiology0.71647238
127MP0002928_abnormal_bile_duct0.70533981
128MP0004142_abnormal_muscle_tone0.69844283
129MP0000639_abnormal_adrenal_gland0.69596830
130MP0004215_abnormal_myocardial_fiber0.69170642
131MP0009765_abnormal_xenobiotic_induced0.67505323
132MP0005266_abnormal_metabolism0.67496590
133* MP0003953_abnormal_hormone_level0.65725974
134MP0003329_amyloid_beta_deposits0.62379746
135MP0002909_abnormal_adrenal_gland0.60117545
136MP0009780_abnormal_chondrocyte_physiolo0.59592183
137MP0005379_endocrine/exocrine_gland_phen0.55759944
138MP0006035_abnormal_mitochondrial_morpho0.55255121
139MP0003690_abnormal_glial_cell0.53316754
140MP0009672_abnormal_birth_weight0.50562451
141MP0004264_abnormal_extraembryonic_tissu0.50560560
142MP0003959_abnormal_lean_body0.47766584
143MP0000230_abnormal_systemic_arterial0.45832526
144MP0009053_abnormal_anal_canal0.43014956
145MP0002822_catalepsy0.42968307
146MP0002877_abnormal_melanocyte_morpholog0.41844513
147MP0005395_other_phenotype0.41194092
148MP0003638_abnormal_response/metabolism_0.41182450
149MP0002970_abnormal_white_adipose0.39846503
150MP0004782_abnormal_surfactant_physiolog0.39577959
151MP0002136_abnormal_kidney_physiology0.38267557
152MP0005666_abnormal_adipose_tissue0.37982174
153MP0000579_abnormal_nail_morphology0.36913375
154MP0001765_abnormal_ion_homeostasis0.36671262
155MP0005248_abnormal_Harderian_gland0.36140376
156MP0000013_abnormal_adipose_tissue0.35818883
157MP0002168_other_aberrant_phenotype0.35451865
158MP0005646_abnormal_pituitary_gland0.35020389
159MP0002269_muscular_atrophy0.34904233
160MP0005187_abnormal_penis_morphology0.33824940
161MP0005058_abnormal_lysosome_morphology0.33823009
162MP0008873_increased_physiological_sensi0.33568767
163MP0008961_abnormal_basal_metabolism0.32328359
164MP0008874_decreased_physiological_sensi0.32264321
165MP0005464_abnormal_platelet_physiology0.31435981
166MP0003724_increased_susceptibility_to0.29309939
167MP0002090_abnormal_vision0.28415281
168MP0005452_abnormal_adipose_tissue0.28336295
169MP0003075_altered_response_to0.27727046
170MP0009115_abnormal_fat_cell0.26966068

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)7.58229810
2Intrahepatic cholestasis (HP:0001406)7.13435140
3Deep venous thrombosis (HP:0002625)6.92254091
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.46940597
5Prolonged partial thromboplastin time (HP:0003645)6.38056515
6Hypobetalipoproteinemia (HP:0003563)6.21341910
7Xanthomatosis (HP:0000991)6.10827414
8Hyperlipoproteinemia (HP:0010980)5.28378398
9Complement deficiency (HP:0004431)5.06346390
10Hypolipoproteinemia (HP:0010981)4.60082154
11Abnormality of the common coagulation pathway (HP:0010990)4.54520909
12Joint hemorrhage (HP:0005261)4.48425471
13Insulin-resistant diabetes mellitus (HP:0000831)4.45586380
14* Ketosis (HP:0001946)4.43516532
15Epidermoid cyst (HP:0200040)4.37746123
16* Abnormality of endocrine pancreas physiology (HP:0012093)4.37650843
17* Abnormality of the pancreatic islet cells (HP:0006476)4.37650843
18* Hypoglycemic coma (HP:0001325)4.36387706
19Hyperglycinemia (HP:0002154)4.33666052
20Hyperammonemia (HP:0001987)4.32997686
21Abnormality of the intrinsic pathway (HP:0010989)4.22195584
22Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.17103436
23Fat malabsorption (HP:0002630)4.14831334
24Conjugated hyperbilirubinemia (HP:0002908)4.08595646
25Hypoalphalipoproteinemia (HP:0003233)3.98744225
26Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.97363571
27Abnormality of methionine metabolism (HP:0010901)3.89013000
28Abnormality of sulfur amino acid metabolism (HP:0004339)3.87477421
29Hyperglycinuria (HP:0003108)3.81102121
30Abnormality of serine family amino acid metabolism (HP:0010894)3.73158560
31Abnormality of glycine metabolism (HP:0010895)3.73158560
32Abnormality of aspartate family amino acid metabolism (HP:0010899)3.71527277
33Abnormality of glutamine family amino acid metabolism (HP:0010902)3.69423309
34Abnormal pancreas size (HP:0012094)3.69061235
35Abnormality of complement system (HP:0005339)3.64960064
36Agitation (HP:0000713)3.62927259
37Hepatoblastoma (HP:0002884)3.61011706
38Large for gestational age (HP:0001520)3.56610618
39* EEG with generalized epileptiform discharges (HP:0011198)3.56567114
40Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.54045649
41* Epileptiform EEG discharges (HP:0011182)3.50258918
42* Hypsarrhythmia (HP:0002521)3.45503634
43* Ketoacidosis (HP:0001993)3.42191975
44Hyperbilirubinemia (HP:0002904)3.39402369
45* Prominent metopic ridge (HP:0005487)3.38128153
46Abnormality of fatty-acid metabolism (HP:0004359)3.37052278
47Hypercholesterolemia (HP:0003124)3.36837483
48Abnormality of pyrimidine metabolism (HP:0004353)3.36459377
49Enlarged penis (HP:0000040)3.32178725
50* Abnormality of the metopic suture (HP:0005556)3.10366715
51Poor suck (HP:0002033)3.09512747
52Skin nodule (HP:0200036)3.07346941
53Steatorrhea (HP:0002570)3.04329911
54Abnormality of nucleobase metabolism (HP:0010932)3.04076901
55Hypomagnesemia (HP:0002917)3.00113810
56* Hypoglycemic seizures (HP:0002173)2.97785365
57Hypothermia (HP:0002045)2.94465629
58Delayed CNS myelination (HP:0002188)2.88592249
59Abnormality of purine metabolism (HP:0004352)2.87885663
60Intestinal atresia (HP:0011100)2.83313866
61Abnormality of serum amino acid levels (HP:0003112)2.83267841
62* Hyperinsulinemic hypoglycemia (HP:0000825)2.80999813
63Gout (HP:0001997)2.79098281
64Metabolic acidosis (HP:0001942)2.77670537
65Hepatocellular carcinoma (HP:0001402)2.77198425
66Spontaneous abortion (HP:0005268)2.69342322
67Myocardial infarction (HP:0001658)2.68938567
68Abnormality of dicarboxylic acid metabolism (HP:0010995)2.68309765
69Dicarboxylic aciduria (HP:0003215)2.68309765
70Hypochromic microcytic anemia (HP:0004840)2.66023844
71* Muscular hypotonia of the trunk (HP:0008936)2.63398609
72Lethargy (HP:0001254)2.59401032
73Abnormal gallbladder morphology (HP:0012437)2.59076119
74Generalized aminoaciduria (HP:0002909)2.58245741
75Abnormality of calcium-phosphate metabolism (HP:0100530)2.58052037
76Irritability (HP:0000737)2.50607026
77Mitral stenosis (HP:0001718)2.49434980
78Cerebral edema (HP:0002181)2.48580835
79Increased circulating renin level (HP:0000848)2.47073469
80Double outlet right ventricle (HP:0001719)2.46939203
81Congenital malformation of the right heart (HP:0011723)2.46939203
82Systemic lupus erythematosus (HP:0002725)2.46906601
83Testicular neoplasm (HP:0010788)2.42179211
84Polyphagia (HP:0002591)2.40381505
85Cholelithiasis (HP:0001081)2.38001440
86Acanthocytosis (HP:0001927)2.36762492
87Type I diabetes mellitus (HP:0100651)2.34893999
88Abnormality of the labia minora (HP:0012880)2.33889054
89Hyperphosphatemia (HP:0002905)2.33318059
90Abnormal gallbladder physiology (HP:0012438)2.30558858
91Cholecystitis (HP:0001082)2.30558858
92Abnormality of magnesium homeostasis (HP:0004921)2.29384448
93Medial flaring of the eyebrow (HP:0010747)2.29341783
94* Hyperglycemia (HP:0003074)2.28855705
95Brushfield spots (HP:0001088)2.28603386
96Hyperthyroidism (HP:0000836)2.28163544
97Vascular calcification (HP:0004934)2.27261429
98Enlarged kidneys (HP:0000105)2.24558182
99* Late onset (HP:0003584)2.24401533
100Pancreatitis (HP:0001733)2.23874922
101Glomerulonephritis (HP:0000099)2.21392443
102Hemiparesis (HP:0001269)2.20877444
103Neonatal onset (HP:0003623)2.18107927
104Myokymia (HP:0002411)2.17022555
105* Symptomatic seizures (HP:0011145)2.14460945
106Pancreatic islet-cell hyperplasia (HP:0004510)2.12890193
107Unilateral renal agenesis (HP:0000122)2.11846088
108Intention tremor (HP:0002080)2.11537121
109Menstrual irregularities (HP:0000858)2.11172723
110Epileptic encephalopathy (HP:0200134)2.10972836
111Malnutrition (HP:0004395)2.10405280
112Sensorimotor neuropathy (HP:0007141)2.10361033
113Abnormal drinking behavior (HP:0030082)2.09938744
114Polydipsia (HP:0001959)2.09938744
115Spastic diplegia (HP:0001264)2.09930325
116Vomiting (HP:0002013)2.08105513
117Abnormality of the gallbladder (HP:0005264)2.07266979
118Abnormal sex determination (HP:0012244)2.06915318
119Sex reversal (HP:0012245)2.06915318
120Menorrhagia (HP:0000132)2.06432201
121Opisthotonus (HP:0002179)2.06011705
122Macroorchidism (HP:0000053)2.04959784
123Amyloidosis (HP:0011034)2.04698743
124Recurrent gram-negative bacterial infections (HP:0005420)2.02652396
125Restlessness (HP:0000711)1.99548802
126Cardiovascular calcification (HP:0011915)1.98586326
127Gait imbalance (HP:0002141)1.98044072
128Neoplasm of the adrenal cortex (HP:0100641)1.97551839
129Esophageal varix (HP:0002040)1.95477295
130Renal cortical cysts (HP:0000803)1.95404260
131Anxiety (HP:0000739)1.93792132
132Hypogonadotrophic hypogonadism (HP:0000044)1.93496800
133Abnormal enzyme/coenzyme activity (HP:0012379)1.92854762
134Nephrogenic diabetes insipidus (HP:0009806)1.92043435
135Febrile seizures (HP:0002373)1.91934794
136Gingival bleeding (HP:0000225)1.91903440
137Nephronophthisis (HP:0000090)1.91597507
138Abnormality of urine glucose concentration (HP:0011016)1.91135884
139Glycosuria (HP:0003076)1.91135884
140Acute hepatic failure (HP:0006554)1.90421912
141Aqueductal stenosis (HP:0002410)1.88682082
142Methylmalonic acidemia (HP:0002912)1.88368678
143Abnormality of transition element cation homeostasis (HP:0011030)1.87465785
144Rickets (HP:0002748)1.86532783
145Congenital primary aphakia (HP:0007707)1.84171916
146Alkalosis (HP:0001948)1.83021114
147Abnormal cartilage morphology (HP:0002763)1.82355774
148Amblyopia (HP:0000646)1.81666284
149Septate vagina (HP:0001153)1.81636282
150Thrombophlebitis (HP:0004418)1.81579583
151Abnormality of iron homeostasis (HP:0011031)1.81465278
152* Downturned corners of mouth (HP:0002714)1.81400992
153Hemorrhage of the eye (HP:0011885)1.80777131
154Progressive macrocephaly (HP:0004481)1.80576691
155* Insulin resistance (HP:0000855)1.80494288
156Poikilocytosis (HP:0004447)1.79173828
157Dialeptic seizures (HP:0011146)1.79030892
158Failure to thrive in infancy (HP:0001531)1.78322823
1593-Methylglutaconic aciduria (HP:0003535)1.77995419
160Elevated alkaline phosphatase (HP:0003155)1.77590081
161Elevated hepatic transaminases (HP:0002910)1.76393599
162Abnormality of the musculature of the pelvis (HP:0001469)1.74098526
163Abnormality of the hip-girdle musculature (HP:0001445)1.74098526
164Limb dystonia (HP:0002451)1.73329018
165Labial hypoplasia (HP:0000066)1.71289418
166Akinesia (HP:0002304)1.71124873
167Progressive cerebellar ataxia (HP:0002073)1.70692696
168Neoplasm of the adrenal gland (HP:0100631)1.70146577
169Diminished movement (HP:0002374)1.69601110
170Hyperphosphaturia (HP:0003109)1.68410438
171Gaze-evoked nystagmus (HP:0000640)1.66454863
172Thyroid carcinoma (HP:0002890)1.65571226
173Neoplasm of the heart (HP:0100544)1.63721708
174Hepatic necrosis (HP:0002605)1.63436726
175Hamartoma of the eye (HP:0010568)1.62870291
176Abnormal eating behavior (HP:0100738)1.61185337
177Pancreatic fibrosis (HP:0100732)1.60891801
178Focal seizures (HP:0007359)1.59977121
179Abnormality of small intestinal villus morphology (HP:0011472)1.59894335
180Villous atrophy (HP:0011473)1.59894335
181Hypokinesia (HP:0002375)1.59326967
182Ventricular fibrillation (HP:0001663)1.58104802
183Genital tract atresia (HP:0001827)1.56761105
184Hypoplastic female external genitalia (HP:0012815)1.52040728
185Absence seizures (HP:0002121)1.49847530
186Generalized tonic-clonic seizures (HP:0002069)1.49559019
187Chronic hepatic failure (HP:0100626)1.49417730
188Abnormality of vitamin B metabolism (HP:0004340)1.47995049

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.47392311
2INSRR5.05470403
3ERN14.49297697
4SIK14.27939999
5TRIM284.10299377
6FGFR43.92320796
7TAOK33.79985872
8CASK2.86045872
9MAPK152.70485871
10FLT32.45027176
11ERBB42.41308879
12NTRK32.33205320
13BCR2.28846273
14PIK3CG2.23818754
15FRK2.17161454
16PKN22.09528662
17MAP3K42.06837286
18TNIK2.05408819
19TRIB32.04497418
20PHKG11.98672170
21PHKG21.98672170
22MAP4K21.82003195
23MAP2K41.79800426
24MARK11.74331193
25PTK61.56409288
26MST1R1.50393362
27DYRK21.48289075
28CSNK1G31.47592405
29CSNK1G21.46855175
30ERBB31.44528305
31MAPK111.44353197
32DAPK21.39968737
33MST41.35899534
34LATS11.33695551
35MAP2K71.32144475
36UHMK11.26592157
37EPHA31.21241145
38ADRBK21.20324037
39PLK31.16091645
40JAK21.14763309
41GRK11.12736345
42TSSK61.12505432
43TYK21.11944209
44PINK11.11896006
45NLK1.11695944
46PASK1.09362317
47CSNK1A1L1.08490351
48DYRK1B1.03621181
49PRKAA21.00534306
50MET0.98053224
51ABL20.96897026
52PLK20.96726188
53MINK10.95912530
54IRAK30.93545130
55NEK90.93109589
56MAP3K30.87830867
57JAK10.87333891
58MAP3K10.83921812
59MAP3K20.83711399
60MAP3K70.83286030
61PRKAA10.83250091
62KDR0.82101581
63FGFR20.81767099
64LMTK20.81598876
65MKNK20.81592346
66PTK20.79368924
67WNK30.78855485
68PRKACG0.78819721
69MAP3K90.78057139
70STK160.77394149
71NUAK10.75940838
72NTRK20.75228628
73CDK50.74297003
74STK38L0.73435124
75ERBB20.72366329
76TBK10.71929919
77DYRK30.71733863
78PRKCZ0.71380512
79PRKCE0.70798043
80CAMK2D0.70273104
81PNCK0.69898762
82EPHB10.68494580
83TESK10.68242902
84GSK3A0.67098180
85STK30.66143365
86CAMK2G0.65865457
87PAK30.65291024
88MAP2K30.65017815
89HIPK20.63533717
90STK380.63021676
91TIE10.62555639
92MAP3K100.61359719
93RIPK10.60383890
94ACVR1B0.60184918
95CAMK2A0.59279622
96MAPK40.59183734
97RET0.58466430
98CAMK1D0.57607607
99WNK40.56965605
100STK240.56887244
101PDGFRA0.55551590
102CSNK1A10.54634382
103DAPK10.53791706
104OXSR10.53026752
105DYRK1A0.52882612
106IRAK10.51952252
107CSK0.51488170
108CSNK1E0.49924218
109MAP2K60.48941874
110MAP2K10.47763719
111SGK30.47730004
112MAP2K20.47437716
113PDPK10.46940463
114IRAK20.46133019
115MAPK130.46127329
116MTOR0.46045419
117BMPR1B0.45769416
118ZAK0.45658414
119PRKG10.45215637
120FGFR30.45060200
121NTRK10.44603417
122IGF1R0.43829324
123PRKCH0.43635701
124PIK3CA0.43520945
125MAP3K110.43286151
126MAP3K60.40592967
127MAP3K140.40357987
128SGK20.40356605
129OBSCN0.39691618
130CSNK1D0.39531772
131ALK0.39034876
132PRKCG0.38959228
133AKT30.38509928
134MAPK120.37027471
135PRKDC0.36901941
136CAMK2B0.36866734
137PAK60.36601385
138CAMK10.36413630
139STK390.35990097
140MAP3K50.35904371
141LIMK10.35845615
142SRPK10.34684602
143STK40.33573806
144CDK140.31569250
145SGK4940.31434697
146SGK2230.31434697
147ATM0.31237552
148STK110.30163128
149MAPK90.29949288
150PRKCQ0.29700669
151GRK60.29645842
152CSNK1G10.28945826
153PRKG20.28701589
154MAPK70.28682501
155CDK60.28456547
156PRKCA0.28114649
157PRKACA0.27804042
158PKN10.27647988
159PRKD10.26994633
160CAMK40.24681795
161PDK10.24234244
162CAMK1G0.23899867
163ZAP700.22780813
164FER0.22638987
165ITK0.22437762
166ICK0.21514795
167EGFR0.19734725

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.42778416
2Nitrogen metabolism_Homo sapiens_hsa009103.30041317
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.25554186
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.21918697
5Arginine biosynthesis_Homo sapiens_hsa002202.87789136
6Tryptophan metabolism_Homo sapiens_hsa003802.82686332
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.63924189
8Complement and coagulation cascades_Homo sapiens_hsa046102.61430669
9Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.56225560
10Fatty acid degradation_Homo sapiens_hsa000712.53934052
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.51287711
12Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.41915662
13Butanoate metabolism_Homo sapiens_hsa006502.26472039
14* Maturity onset diabetes of the young_Homo sapiens_hsa049502.18378759
15Pentose and glucuronate interconversions_Homo sapiens_hsa000402.17845978
16Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.16043455
17Peroxisome_Homo sapiens_hsa041462.08607151
18Propanoate metabolism_Homo sapiens_hsa006401.97012712
19Synaptic vesicle cycle_Homo sapiens_hsa047211.92343213
20Histidine metabolism_Homo sapiens_hsa003401.91229380
21Chemical carcinogenesis_Homo sapiens_hsa052041.88283693
22Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.86611862
23Nicotine addiction_Homo sapiens_hsa050331.86141279
24Fatty acid metabolism_Homo sapiens_hsa012121.84274430
25PPAR signaling pathway_Homo sapiens_hsa033201.82780821
26Selenocompound metabolism_Homo sapiens_hsa004501.79395264
27Sulfur metabolism_Homo sapiens_hsa009201.78179310
28Steroid hormone biosynthesis_Homo sapiens_hsa001401.78009162
29Drug metabolism - other enzymes_Homo sapiens_hsa009831.77163521
30Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.65320742
31beta-Alanine metabolism_Homo sapiens_hsa004101.65298285
32Phenylalanine metabolism_Homo sapiens_hsa003601.61464571
33Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.60512800
34Collecting duct acid secretion_Homo sapiens_hsa049661.60205642
35Retinol metabolism_Homo sapiens_hsa008301.59953957
36GABAergic synapse_Homo sapiens_hsa047271.57965947
37Staphylococcus aureus infection_Homo sapiens_hsa051501.56796023
38Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.56332273
39Caffeine metabolism_Homo sapiens_hsa002321.56239683
40Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.50919913
41Tyrosine metabolism_Homo sapiens_hsa003501.48460197
42Bile secretion_Homo sapiens_hsa049761.47554387
43Cocaine addiction_Homo sapiens_hsa050301.45347119
442-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.45077884
45Pyruvate metabolism_Homo sapiens_hsa006201.39379853
46Folate biosynthesis_Homo sapiens_hsa007901.38197021
47Fatty acid elongation_Homo sapiens_hsa000621.36727141
48Phototransduction_Homo sapiens_hsa047441.34129368
49ABC transporters_Homo sapiens_hsa020101.31898901
50Fat digestion and absorption_Homo sapiens_hsa049751.31753129
51Oxidative phosphorylation_Homo sapiens_hsa001901.29367531
52Amphetamine addiction_Homo sapiens_hsa050311.25066380
53* Starch and sucrose metabolism_Homo sapiens_hsa005001.23336065
54Circadian entrainment_Homo sapiens_hsa047131.21340984
55Vibrio cholerae infection_Homo sapiens_hsa051101.20206587
56Dopaminergic synapse_Homo sapiens_hsa047281.17308980
57Cysteine and methionine metabolism_Homo sapiens_hsa002701.17270045
58Glutamatergic synapse_Homo sapiens_hsa047241.14456209
59Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.10564842
60Biosynthesis of amino acids_Homo sapiens_hsa012301.09347447
61Steroid biosynthesis_Homo sapiens_hsa001001.08026852
62* Carbon metabolism_Homo sapiens_hsa012001.05381371
63Serotonergic synapse_Homo sapiens_hsa047261.02312144
64Cardiac muscle contraction_Homo sapiens_hsa042601.01621387
65Morphine addiction_Homo sapiens_hsa050321.01231874
66Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.00505019
67Taste transduction_Homo sapiens_hsa047420.99687252
68Arginine and proline metabolism_Homo sapiens_hsa003300.97026225
69Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.91865498
70Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.91162878
71Sulfur relay system_Homo sapiens_hsa041220.90548415
72Long-term depression_Homo sapiens_hsa047300.90097032
73Lysine degradation_Homo sapiens_hsa003100.86788433
74Vitamin B6 metabolism_Homo sapiens_hsa007500.85368385
75Renin secretion_Homo sapiens_hsa049240.84688425
76Type I diabetes mellitus_Homo sapiens_hsa049400.84572205
77Parkinsons disease_Homo sapiens_hsa050120.84447614
78Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.80924464
79Cyanoamino acid metabolism_Homo sapiens_hsa004600.79395097
80Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.78249684
81Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.77754546
82Vitamin digestion and absorption_Homo sapiens_hsa049770.77597747
83Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.74408267
84Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.72611563
85Pancreatic secretion_Homo sapiens_hsa049720.72338214
86Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.71426864
87mTOR signaling pathway_Homo sapiens_hsa041500.70309742
88Oocyte meiosis_Homo sapiens_hsa041140.68198852
89Glycerolipid metabolism_Homo sapiens_hsa005610.67273673
90Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.66228978
91* Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.61861504
92One carbon pool by folate_Homo sapiens_hsa006700.61692720
93Glutathione metabolism_Homo sapiens_hsa004800.59709330
94Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.59617611
95Alzheimers disease_Homo sapiens_hsa050100.52663390
96Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.52245388
97Prion diseases_Homo sapiens_hsa050200.50695072
98Gastric acid secretion_Homo sapiens_hsa049710.50352651
99Non-homologous end-joining_Homo sapiens_hsa034500.50200881
100* Metabolic pathways_Homo sapiens_hsa011000.47837854
101Aldosterone synthesis and secretion_Homo sapiens_hsa049250.47646804
102Pentose phosphate pathway_Homo sapiens_hsa000300.45981434
103cAMP signaling pathway_Homo sapiens_hsa040240.45414589
104Sphingolipid metabolism_Homo sapiens_hsa006000.44575759
105Fatty acid biosynthesis_Homo sapiens_hsa000610.44465715
106Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.43627728
107Salivary secretion_Homo sapiens_hsa049700.42282586
108Basal transcription factors_Homo sapiens_hsa030220.42230547
109cGMP-PKG signaling pathway_Homo sapiens_hsa040220.39208001
110Insulin resistance_Homo sapiens_hsa049310.38816289
111Cholinergic synapse_Homo sapiens_hsa047250.37896827
112RNA polymerase_Homo sapiens_hsa030200.37534489
113alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.37327992
114Protein export_Homo sapiens_hsa030600.37113963
115Huntingtons disease_Homo sapiens_hsa050160.35634007
116Ether lipid metabolism_Homo sapiens_hsa005650.34884050
117Fructose and mannose metabolism_Homo sapiens_hsa000510.32638244
118Linoleic acid metabolism_Homo sapiens_hsa005910.31221605
119Adipocytokine signaling pathway_Homo sapiens_hsa049200.27705722
120Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.27345870
121* Glucagon signaling pathway_Homo sapiens_hsa049220.20574697
122Glycerophospholipid metabolism_Homo sapiens_hsa005640.18060019
123* Galactose metabolism_Homo sapiens_hsa000520.14710475
124Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.13463298
125AMPK signaling pathway_Homo sapiens_hsa041520.09536249
126Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.09194849
127Regulation of autophagy_Homo sapiens_hsa041400.04287232
128Carbohydrate digestion and absorption_Homo sapiens_hsa049730.02699250
129Renin-angiotensin system_Homo sapiens_hsa04614-0.2077197
130Bladder cancer_Homo sapiens_hsa05219-0.2029765
131N-Glycan biosynthesis_Homo sapiens_hsa00510-0.1818993
132Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1682028
133Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.1580475
134Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.1510377
135Lysosome_Homo sapiens_hsa04142-0.1297591
136* Insulin secretion_Homo sapiens_hsa04911-0.1183896
137Circadian rhythm_Homo sapiens_hsa04710-0.1161668
138Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0943614
139Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.0938150
140* Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0833377
141Thyroid hormone synthesis_Homo sapiens_hsa04918-0.0621618
142* Type II diabetes mellitus_Homo sapiens_hsa04930-0.0540868
143Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0407926
144* Insulin signaling pathway_Homo sapiens_hsa04910-0.0357826
145Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.0072092

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