PEX5

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: The product of this gene binds to the C-terminal PTS1-type tripeptide peroxisomal targeting signal (SKL-type) and plays an essential role in peroxisomal protein import. Peroxins (PEXs) are proteins that are essential for the assembly of functional peroxisomes. The peroxisome biogenesis disorders (PBDs) are a group of genetically heterogeneous autosomal recessive, lethal diseases characterized by multiple defects in peroxisome function. The peroxisomal biogenesis disorders are a heterogeneous group with at least 14 complementation groups and with more than 1 phenotype being observed in cases falling into particular complementation groups. Although the clinical features of PBD patients vary, cells from all PBD patients exhibit a defect in the import of one or more classes of peroxisomal matrix proteins into the organelle. Defects in this gene are a cause of neonatal adrenoleukodystrophy (NALD), a cause of Zellweger syndrome (ZWS) as well as may be a cause of infantile Refsum disease (IRD). Alternatively spliced transcript variants encoding different isoforms have been identified. 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)7.00352954
2L-phenylalanine catabolic process (GO:0006559)7.00352954
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.84154413
4L-phenylalanine metabolic process (GO:0006558)6.84154413
5aromatic amino acid family catabolic process (GO:0009074)6.15719418
6triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.83456753
7alpha-linolenic acid metabolic process (GO:0036109)5.83348718
8glyoxylate metabolic process (GO:0046487)5.60799947
9kynurenine metabolic process (GO:0070189)5.55540969
10sulfur amino acid catabolic process (GO:0000098)5.47505302
11indolalkylamine catabolic process (GO:0046218)5.45720512
12tryptophan catabolic process (GO:0006569)5.45720512
13indole-containing compound catabolic process (GO:0042436)5.45720512
14cysteine metabolic process (GO:0006534)5.41799849
15negative regulation of fibrinolysis (GO:0051918)5.41598301
16bile acid biosynthetic process (GO:0006699)5.41580870
17urea metabolic process (GO:0019627)5.37270283
18urea cycle (GO:0000050)5.37270283
19tryptophan metabolic process (GO:0006568)5.11661963
20protein carboxylation (GO:0018214)5.05687351
21peptidyl-glutamic acid carboxylation (GO:0017187)5.05687351
22lysine metabolic process (GO:0006553)5.00026122
23lysine catabolic process (GO:0006554)5.00026122
24complement activation, alternative pathway (GO:0006957)4.99316630
25regulation of fibrinolysis (GO:0051917)4.98291347
26high-density lipoprotein particle remodeling (GO:0034375)4.97957667
27serine family amino acid catabolic process (GO:0009071)4.97698284
28regulation of protein activation cascade (GO:2000257)4.92686381
29nitrogen cycle metabolic process (GO:0071941)4.91227799
30fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.89682061
31homocysteine metabolic process (GO:0050667)4.70836654
32bile acid metabolic process (GO:0008206)4.66679208
33regulation of complement activation (GO:0030449)4.63265558
34regulation of triglyceride catabolic process (GO:0010896)4.60619560
35amino-acid betaine metabolic process (GO:0006577)4.52604279
36glycine metabolic process (GO:0006544)4.48634908
37aromatic amino acid family metabolic process (GO:0009072)4.48408281
38alpha-amino acid catabolic process (GO:1901606)4.48039635
39plasma lipoprotein particle clearance (GO:0034381)4.38994574
40reverse cholesterol transport (GO:0043691)4.38373064
41negative regulation of cholesterol transport (GO:0032375)4.38100162
42negative regulation of sterol transport (GO:0032372)4.38100162
43triglyceride homeostasis (GO:0070328)4.37873944
44acylglycerol homeostasis (GO:0055090)4.37873944
45cellular ketone body metabolic process (GO:0046950)4.37253134
46regulation of cholesterol esterification (GO:0010872)4.31915672
47tyrosine metabolic process (GO:0006570)4.30686700
48serine family amino acid metabolic process (GO:0009069)4.28525662
49plasma lipoprotein particle remodeling (GO:0034369)4.25972399
50protein-lipid complex remodeling (GO:0034368)4.25972399
51macromolecular complex remodeling (GO:0034367)4.25972399
52coenzyme catabolic process (GO:0009109)4.24573310
53cellular modified amino acid catabolic process (GO:0042219)4.23770136
54glutamate metabolic process (GO:0006536)4.23416026
55cellular amino acid catabolic process (GO:0009063)4.22688018
56serine family amino acid biosynthetic process (GO:0009070)4.13426709
57ethanol oxidation (GO:0006069)4.13203935
58regulation of cholesterol homeostasis (GO:2000188)4.09170024
59sodium ion export (GO:0071436)4.07860701
60acetyl-CoA metabolic process (GO:0006084)4.07772633
61imidazole-containing compound metabolic process (GO:0052803)4.01942348
62dicarboxylic acid biosynthetic process (GO:0043650)3.97700151
63phospholipid efflux (GO:0033700)3.97624126
64cytoskeletal anchoring at plasma membrane (GO:0007016)3.92717196
65synaptic vesicle docking involved in exocytosis (GO:0016081)3.89143471
662-oxoglutarate metabolic process (GO:0006103)3.87023347
67bile acid and bile salt transport (GO:0015721)3.85267957
68positive regulation of fatty acid beta-oxidation (GO:0032000)3.84766132
69positive regulation of lipid catabolic process (GO:0050996)3.83039529
70valine metabolic process (GO:0006573)3.80731676
71ketone body metabolic process (GO:1902224)3.78054440
72cholesterol efflux (GO:0033344)3.75223884
73indolalkylamine metabolic process (GO:0006586)3.73663443
74benzene-containing compound metabolic process (GO:0042537)3.73154862
75cellular glucuronidation (GO:0052695)3.72386988
76short-chain fatty acid metabolic process (GO:0046459)3.71848380
77* carboxylic acid catabolic process (GO:0046395)3.70817907
78* organic acid catabolic process (GO:0016054)3.70817907
79aspartate family amino acid catabolic process (GO:0009068)3.68762551
80plasma lipoprotein particle assembly (GO:0034377)3.68472344
81arginine metabolic process (GO:0006525)3.66266646
82regulation of fatty acid beta-oxidation (GO:0031998)3.63495609
83regulation of NFAT protein import into nucleus (GO:0051532)3.62525754
84fibrinolysis (GO:0042730)3.61730503
85regulation of glucose import in response to insulin stimulus (GO:2001273)3.60321827
86drug catabolic process (GO:0042737)3.57943436
87phospholipid homeostasis (GO:0055091)3.55358002
88cholesterol homeostasis (GO:0042632)3.54066013
89amine catabolic process (GO:0009310)3.54062661
90cellular biogenic amine catabolic process (GO:0042402)3.54062661
91* fatty acid beta-oxidation (GO:0006635)3.52974876
92epoxygenase P450 pathway (GO:0019373)3.52794150
93adherens junction assembly (GO:0034333)3.51710519
94positive regulation of lipoprotein lipase activity (GO:0051006)3.51077828
95positive regulation of triglyceride lipase activity (GO:0061365)3.51077828
96sterol homeostasis (GO:0055092)3.50459914
97negative regulation of lipase activity (GO:0060192)3.50426886
98* fatty acid oxidation (GO:0019395)3.49748734
99cytolysis (GO:0019835)3.48204880
100cell-substrate adherens junction assembly (GO:0007045)3.47157096
101focal adhesion assembly (GO:0048041)3.47157096
102* monocarboxylic acid catabolic process (GO:0072329)3.45790488
103cofactor catabolic process (GO:0051187)3.45016488
104protein-lipid complex assembly (GO:0065005)3.43191823
105* lipid oxidation (GO:0034440)3.41680123
106* fatty acid catabolic process (GO:0009062)3.41135317
107very-low-density lipoprotein particle assembly (GO:0034379)3.37280674
108carnitine metabolic process (GO:0009437)3.36633770
109cellular potassium ion homeostasis (GO:0030007)3.34991112
110cerebellar granule cell differentiation (GO:0021707)3.33641254
111protein retention in ER lumen (GO:0006621)3.29137539
112layer formation in cerebral cortex (GO:0021819)3.27470902
113proline biosynthetic process (GO:0006561)3.23466599
114planar cell polarity pathway involved in neural tube closure (GO:0090179)3.20344508
115creatine metabolic process (GO:0006600)3.17957577
116positive regulation of synapse maturation (GO:0090129)3.15592854
117regulation of early endosome to late endosome transport (GO:2000641)3.13435925
118maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.08543004
119Golgi transport vesicle coating (GO:0048200)3.06419628
120COPI coating of Golgi vesicle (GO:0048205)3.06419628
121glutamate secretion (GO:0014047)3.02656704
122NADH metabolic process (GO:0006734)3.00743585
123retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.97644614
124regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)2.95701860
125regulation of ARF protein signal transduction (GO:0032012)2.94583041
126protein localization to endosome (GO:0036010)2.90663296
127activation of Rac GTPase activity (GO:0032863)2.86427459
128negative regulation of cell size (GO:0045792)2.85131389
129apoptotic process involved in morphogenesis (GO:0060561)2.84271630
130regulation of short-term neuronal synaptic plasticity (GO:0048172)2.79661022
131protein targeting to plasma membrane (GO:0072661)2.77307698
132amino acid import (GO:0043090)2.72232840
133neuromuscular process controlling balance (GO:0050885)2.72227754
134negative regulation of erythrocyte differentiation (GO:0045647)2.71779746
135peptidyl-lysine dimethylation (GO:0018027)2.71524856
136synaptic vesicle maturation (GO:0016188)2.70462526
137histone H3-K9 demethylation (GO:0033169)2.70023737
138regulation of mammary gland epithelial cell proliferation (GO:0033599)2.69436584
139regulation of translational fidelity (GO:0006450)2.68564438
140cell-substrate junction assembly (GO:0007044)2.66176972
141regulation of cholesterol biosynthetic process (GO:0045540)2.62067159
142regulation of synaptic vesicle exocytosis (GO:2000300)2.60776764
143proline metabolic process (GO:0006560)2.59672747
144response to parathyroid hormone (GO:0071107)2.58198586
145protein complex localization (GO:0031503)2.55398459
146cell communication by electrical coupling (GO:0010644)2.54918221
147paraxial mesoderm development (GO:0048339)2.53386117
148mating behavior (GO:0007617)2.51025402
149negative regulation of catenin import into nucleus (GO:0035414)2.50653887
150synaptic vesicle exocytosis (GO:0016079)2.49995524
151maternal placenta development (GO:0001893)2.49508396
152cellular protein complex localization (GO:0034629)2.47764735
153gluconeogenesis (GO:0006094)2.45304428
154respiratory system process (GO:0003016)2.45202307
155cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.45187816
156establishment of mitochondrion localization, microtubule-mediated (GO:0034643)2.44340387
157mitochondrion transport along microtubule (GO:0047497)2.44340387
158locomotory exploration behavior (GO:0035641)2.44090338
159cell migration in hindbrain (GO:0021535)2.43513927
160insulin-like growth factor receptor signaling pathway (GO:0048009)2.42342238
161G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.42226337
162mitotic chromosome condensation (GO:0007076)2.40579101
163regulation of neuronal synaptic plasticity (GO:0048168)2.40249032
164activation of protein kinase A activity (GO:0034199)2.39465171
165cerebellar Purkinje cell layer development (GO:0021680)2.39172335
166mannose metabolic process (GO:0006013)2.39112364
167oxaloacetate metabolic process (GO:0006107)2.38979055
168response to mercury ion (GO:0046689)2.38904007
169activation of MAPKKK activity (GO:0000185)2.38684697
170regulation of nucleobase-containing compound transport (GO:0032239)2.38665523
171basement membrane organization (GO:0071711)2.37466038
172glycolytic process (GO:0006096)2.34948582
173L-amino acid import (GO:0043092)2.33067593
174positive regulation of myotube differentiation (GO:0010831)2.31862146
175cell-cell junction maintenance (GO:0045217)2.30700118
176positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling2.30497499
177intracellular estrogen receptor signaling pathway (GO:0030520)2.29791502
178neuronal ion channel clustering (GO:0045161)2.29609350
179hexose biosynthetic process (GO:0019319)2.28965519
180RNA stabilization (GO:0043489)2.28384590
181mRNA stabilization (GO:0048255)2.28384590
182sarcoplasmic reticulum calcium ion transport (GO:0070296)2.28375988
183epithelial cell differentiation involved in prostate gland development (GO:0060742)2.28222921
184cellular sodium ion homeostasis (GO:0006883)2.27794230
185semaphorin-plexin signaling pathway (GO:0071526)2.27594762
186cellular response to epidermal growth factor stimulus (GO:0071364)2.27454728
187negative regulation of fatty acid transport (GO:2000192)2.27163061
188positive regulation of glucose import (GO:0046326)2.26340900
189activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.26103502
190regulation of chromatin binding (GO:0035561)2.25119218
191peptidyl-proline hydroxylation (GO:0019511)2.23961822
192establishment of mitochondrion localization (GO:0051654)2.23955983
193cellular response to catecholamine stimulus (GO:0071870)2.23251303
194cellular response to monoamine stimulus (GO:0071868)2.23251303
195positive regulation of glucose transport (GO:0010828)2.23087541
196convergent extension (GO:0060026)2.22834957
197monosaccharide biosynthetic process (GO:0046364)2.22765724

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse7.76405713
2* PPARA_22158963_ChIP-Seq_LIVER_Mouse6.77533921
3PPARG_19300518_ChIP-PET_3T3-L1_Mouse6.21963379
4LXR_22158963_ChIP-Seq_LIVER_Mouse5.90508240
5EGR1_23403033_ChIP-Seq_LIVER_Mouse5.47663787
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.77510527
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.31470002
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.74904316
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.33622623
10EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.84170491
11TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.81932048
12TP63_17297297_ChIP-ChIP_HaCaT_Human2.71524209
13CLOCK_20551151_ChIP-Seq_293T_Human2.45501543
14ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.36584470
15KDM2B_26808549_Chip-Seq_K562_Human2.27993176
16TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.11589375
17ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.0396901
18KDM2B_26808549_Chip-Seq_DND41_Human1.99182389
19WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.98407474
20TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.83705433
21* HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.79592616
22VDR_21846776_ChIP-Seq_THP-1_Human1.71490805
23ZNF263_19887448_ChIP-Seq_K562_Human1.68830461
24* RARB_27405468_Chip-Seq_BRAIN_Mouse1.66440269
25ZFP281_27345836_Chip-Seq_ESCs_Mouse1.65382777
26STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.63608173
27RARG_19884340_ChIP-ChIP_MEFs_Mouse1.60526028
28UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.57219384
29TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.57217996
30SMC4_20622854_ChIP-Seq_HELA_Human1.57005643
31CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.56717660
32KDM2B_26808549_Chip-Seq_JURKAT_Human1.51954366
33ESR1_15608294_ChIP-ChIP_MCF-7_Human1.49863288
34FOXA2_19822575_ChIP-Seq_HepG2_Human1.49471242
35THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.47718703
36DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.39327087
37GATA1_22025678_ChIP-Seq_K562_Human1.38971674
38STAT6_21828071_ChIP-Seq_BEAS2B_Human1.38927626
39CTCF_27219007_Chip-Seq_ERYTHROID_Human1.38727685
40SA1_27219007_Chip-Seq_ERYTHROID_Human1.36588014
41CTCF_27219007_Chip-Seq_Bcells_Human1.36024933
42* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.33595223
43* HNF4A_19822575_ChIP-Seq_HepG2_Human1.33045516
44KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.30229488
45EGR1_19374776_ChIP-ChIP_THP-1_Human1.29699139
46DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.28671920
47TRIM28_21343339_ChIP-Seq_HEK293_Human1.28225792
48ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.27986538
49LXR_22292898_ChIP-Seq_THP-1_Human1.27309000
50EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.26091873
51TET1_21490601_ChIP-Seq_MESCs_Mouse1.25490760
52* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.21098143
53EZH2_18974828_ChIP-Seq_MESCs_Mouse1.19786662
54RNF2_18974828_ChIP-Seq_MESCs_Mouse1.19786662
55KLF4_18555785_ChIP-Seq_MESCs_Mouse1.18315592
56NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.18202112
57SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.15451426
58SRY_22984422_ChIP-ChIP_TESTIS_Rat1.14225578
59NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.13268070
60ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.12978531
61STAT3_1855785_ChIP-Seq_MESCs_Mouse1.12193054
62HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.11044282
63RXRA_24833708_ChIP-Seq_LIVER_Mouse1.10428351
64* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.10203780
65TBX20_22328084_ChIP-Seq_HEART_Mouse1.08118781
66TBX20_22080862_ChIP-Seq_HEART_Mouse1.08118781
67MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.07344928
68NFIB_24661679_ChIP-Seq_LUNG_Mouse1.05601589
69ZFX_18555785_ChIP-Seq_MESCs_Mouse1.05363804
70MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.04702232
71SETDB1_19884255_ChIP-Seq_MESCs_Mouse1.03493356
72ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.03205389
73OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.02344049
74RUNX1_27514584_Chip-Seq_MCF-7_Human1.02002067
75TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.99510235
76ESR2_21235772_ChIP-Seq_MCF-7_Human0.98964598
77SOX2_27498859_Chip-Seq_STOMACH_Mouse0.98479929
78SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.98068271
79JARID2_20075857_ChIP-Seq_MESCs_Mouse0.97708266
80SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.96777469
81DROSHA_22980978_ChIP-Seq_HELA_Human0.96458822
82RNF2_27304074_Chip-Seq_ESCs_Mouse0.96398238
83STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.95389448
84TP53_20018659_ChIP-ChIP_R1E_Mouse0.95281027
85JARID1B-DAIN_22020125_ChIP-Seq_ESCs_Mouse0.93708085
86TP53_22127205_ChIP-Seq_IMR90_Human0.92848657
87EZH2_27294783_Chip-Seq_ESCs_Mouse0.92565576
88CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.92200988
89RACK7_27058665_Chip-Seq_MCF-7_Human0.87852244
90STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.87397414
91POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.86767053
92SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.83340824
93GATA4_25053715_ChIP-Seq_YYC3_Human0.80120593
94PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.79795092
95ATF3_27146783_Chip-Seq_COLON_Human0.79761755
96MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.79357414
97HTT_18923047_ChIP-ChIP_STHdh_Human0.79055494
98RARA_24833708_ChIP-Seq_LIVER_Mouse0.78887804
99ERG_21242973_ChIP-ChIP_JURKAT_Human0.76932420
100ELK3_25401928_ChIP-Seq_HUVEC_Human0.74351736
101RARB_24833708_ChIP-Seq_LIVER_Mouse0.73355004
102CREB1_26743006_Chip-Seq_LNCaP_Human0.71178018
103TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.68380286
104KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.67340559
105EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.66475454
106TET1_21451524_ChIP-Seq_MESCs_Mouse0.66335722
107FOXO3_23340844_ChIP-Seq_DLD1_Human0.65508209
108GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.65244185
109P300_27058665_Chip-Seq_ZR-75-30cells_Human0.62417904
110SALL4_18804426_ChIP-ChIP_XEN_Mouse0.62414751
111DNAJC2_21179169_ChIP-ChIP_NT2_Human0.62381403
112ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.61948450
113* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.61941945
114SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.61666541
115BCOR_27268052_Chip-Seq_Bcells_Human0.61485512
116PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.61123004
117GATA1_19941827_ChIP-Seq_MEL_Mouse0.60835827
118AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.60653423
119NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.59476312
120P68_20966046_ChIP-Seq_HELA_Human0.58502271
121ESR1_21235772_ChIP-Seq_MCF-7_Human0.58222177
122KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.58046004
123MYC_22102868_ChIP-Seq_BL_Human0.57868738
124BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.57121275
125RAD21_21589869_ChIP-Seq_MESCs_Mouse0.56676638
126GATA1_19941826_ChIP-Seq_K562_Human0.56490138
127PPAR_26484153_Chip-Seq_NCI-H1993_Human0.56374777
128GATA6_25053715_ChIP-Seq_YYC3_Human0.55213483
129SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.54863686
130BCL6_27268052_Chip-Seq_Bcells_Human0.54297167
131EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.54165037
132* CTCF_21964334_Chip-Seq_Bcells_Human0.53907459
133CDX2_20551321_ChIP-Seq_CACO-2_Human0.53791673
134TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.53745550
135BRD4_27068464_Chip-Seq_AML-cells_Mouse0.53537566
136ZFP281_18757296_ChIP-ChIP_E14_Mouse0.53023084
137RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.52874593
138FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.51977426
139FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.51881236
140AUTS2_25519132_ChIP-Seq_293T-REX_Human0.51616286
141* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.51270172
142RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.51247924
143EGR1_19032775_ChIP-ChIP_M12_Human0.50930698
144PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.50083359
145KDM2B_26808549_Chip-Seq_SUP-B15_Human0.50017801
146KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.49757220
147* CTCF_21964334_ChIP-Seq_BJAB-B_Human0.49720856
148CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.49246453
149OCT4_18692474_ChIP-Seq_MEFs_Mouse0.49010594
150ELF1_20517297_ChIP-Seq_JURKAT_Human0.48827585
151TCF7_22412390_ChIP-Seq_EML_Mouse0.48418838
152KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.47862825

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.13605528
2MP0005360_urolithiasis7.22327963
3MP0005085_abnormal_gallbladder_physiolo5.90111407
4* MP0005365_abnormal_bile_salt5.89604486
5MP0008875_abnormal_xenobiotic_pharmacok4.47843831
6MP0003806_abnormal_nucleotide_metabolis4.22345321
7MP0010329_abnormal_lipoprotein_level3.69589295
8MP0003252_abnormal_bile_duct3.65888826
9MP0004859_abnormal_synaptic_plasticity3.46620983
10MP0009840_abnormal_foam_cell3.34755919
11MP0005083_abnormal_biliary_tract3.10026219
12MP0000751_myopathy3.04121133
13MP0002822_catalepsy2.84088990
14MP0005332_abnormal_amino_acid2.78672883
15MP0001666_abnormal_nutrient_absorption2.63325293
16MP0004858_abnormal_nervous_system2.57624694
17MP0003195_calcinosis2.37741717
18MP0003191_abnormal_cellular_cholesterol2.30762437
19MP0000609_abnormal_liver_physiology2.23849759
20MP0002118_abnormal_lipid_homeostasis2.23585331
21MP0003705_abnormal_hypodermis_morpholog2.17883796
22MP0004270_analgesia2.16702737
23MP0001348_abnormal_lacrimal_gland2.15027019
24MP0004233_abnormal_muscle_weight2.07547459
25MP0005409_darkened_coat_color2.01990754
26MP0000566_synostosis2.00591746
27MP0004019_abnormal_vitamin_homeostasis2.00499256
28MP0005076_abnormal_cell_differentiation1.92796849
29MP0005319_abnormal_enzyme/_coenzyme1.91021074
30MP0000537_abnormal_urethra_morphology1.90242056
31* MP0000747_muscle_weakness1.89714475
32MP0005423_abnormal_somatic_nervous1.88623192
33MP0003868_abnormal_feces_composition1.88511852
34MP0000759_abnormal_skeletal_muscle1.87929298
35MP0000733_abnormal_muscle_development1.83964683
36MP0001849_ear_inflammation1.81851582
37MP0004087_abnormal_muscle_fiber1.80625591
38MP0003879_abnormal_hair_cell1.72939259
39MP0002138_abnormal_hepatobiliary_system1.70925037
40MP0002249_abnormal_larynx_morphology1.68110952
41MP0003123_paternal_imprinting1.65232417
42MP0005670_abnormal_white_adipose1.62628948
43MP0005584_abnormal_enzyme/coenzyme_acti1.60006255
44MP0000749_muscle_degeneration1.53840875
45MP0004130_abnormal_muscle_cell1.46331419
46MP0001764_abnormal_homeostasis1.44661295
47MP0001346_abnormal_lacrimal_gland1.43023952
48MP0010030_abnormal_orbit_morphology1.40544114
49MP0000579_abnormal_nail_morphology1.39955050
50MP0000678_abnormal_parathyroid_gland1.39421601
51MP0009780_abnormal_chondrocyte_physiolo1.38277794
52MP0002877_abnormal_melanocyte_morpholog1.36723184
53MP0003634_abnormal_glial_cell1.34014457
54MP0008569_lethality_at_weaning1.32760562
55MP0000750_abnormal_muscle_regeneration1.32576136
56MP0009643_abnormal_urine_homeostasis1.32564565
57MP0003635_abnormal_synaptic_transmissio1.31115239
58MP0003091_abnormal_cell_migration1.30819168
59MP0002089_abnormal_postnatal_growth/wei1.28001180
60MP0003453_abnormal_keratinocyte_physiol1.27893089
61MP0010630_abnormal_cardiac_muscle1.27093560
62* MP0000598_abnormal_liver_morphology1.26139989
63MP0003011_delayed_dark_adaptation1.23973266
64MP0008260_abnormal_autophagy1.21634350
65MP0005257_abnormal_intraocular_pressure1.20508844
66MP0000604_amyloidosis1.20075089
67MP0003186_abnormal_redox_activity1.19954975
68MP0004036_abnormal_muscle_relaxation1.18840595
69MP0005666_abnormal_adipose_tissue1.18263796
70MP0002106_abnormal_muscle_physiology1.17662026
71MP0001730_embryonic_growth_arrest1.16710910
72MP0003656_abnormal_erythrocyte_physiolo1.16649374
73MP0010352_gastrointestinal_tract_polyps1.11715811
74MP0000462_abnormal_digestive_system1.10908710
75MP0003115_abnormal_respiratory_system1.10175010
76MP0005369_muscle_phenotype1.08649337
77MP0002108_abnormal_muscle_morphology1.08004422
78MP0002063_abnormal_learning/memory/cond1.07369520
79MP0005623_abnormal_meninges_morphology1.06795977
80MP0006138_congestive_heart_failure1.05638262
81MP0000762_abnormal_tongue_morphology1.04492763
82MP0002971_abnormal_brown_adipose1.03162042
83MP0003329_amyloid_beta_deposits0.97127179
84MP0000534_abnormal_ureter_morphology0.95717698
85MP0005451_abnormal_body_composition0.94904487
86* MP0002078_abnormal_glucose_homeostasis0.94684764
87MP0009763_increased_sensitivity_to0.93418745
88MP0002254_reproductive_system_inflammat0.90992578
89MP0005647_abnormal_sex_gland0.90203770
90MP0005334_abnormal_fat_pad0.90033521
91MP0003385_abnormal_body_wall0.88761565
92MP0005220_abnormal_exocrine_pancreas0.88393855
93MP0004782_abnormal_surfactant_physiolog0.87706377
94MP0009278_abnormal_bone_marrow0.86816934
95* MP0009642_abnormal_blood_homeostasis0.86752513
96MP0005636_abnormal_mineral_homeostasis0.86126845
97MP0005084_abnormal_gallbladder_morpholo0.85298330
98MP0002896_abnormal_bone_mineralization0.84726181
99MP0005535_abnormal_body_temperature0.84255651
100MP0000920_abnormal_myelination0.83051111
101MP0002064_seizures0.82392480
102MP0004185_abnormal_adipocyte_glucose0.81679304
103MP0000778_abnormal_nervous_system0.81472608
104MP0009697_abnormal_copulation0.80469074
105* MP0006036_abnormal_mitochondrial_physio0.78677392
106MP0005448_abnormal_energy_balance0.77277298
107MP0004811_abnormal_neuron_physiology0.76412140
108MP0001299_abnormal_eye_distance/0.76333902
109MP0008438_abnormal_cutaneous_collagen0.75653303
110MP0005330_cardiomyopathy0.75635890
111MP0001502_abnormal_circadian_rhythm0.75057711
112MP0008469_abnormal_protein_level0.75043992
113MP0005376_homeostasis/metabolism_phenot0.74295488
114MP0009764_decreased_sensitivity_to0.74180877
115MP0000467_abnormal_esophagus_morphology0.73610206
116MP0010368_abnormal_lymphatic_system0.73578557
117MP0005375_adipose_tissue_phenotype0.72561610
118MP0000428_abnormal_craniofacial_morphol0.72326904
119MP0002332_abnormal_exercise_endurance0.72187546
120MP0000955_abnormal_spinal_cord0.70984606
121MP0009053_abnormal_anal_canal0.69703821
122MP0002837_dystrophic_cardiac_calcinosis0.69374471
123MP0005501_abnormal_skin_physiology0.68820405
124MP0005266_abnormal_metabolism0.68677584
125MP0005275_abnormal_skin_tensile0.68080133
126MP0002970_abnormal_white_adipose0.67962118
127MP0001756_abnormal_urination0.67833705
128MP0004510_myositis0.67717884
129* MP0003861_abnormal_nervous_system0.65957592
130MP0002009_preneoplasia0.65625691
131MP0004272_abnormal_basement_membrane0.65400318
132MP0009765_abnormal_xenobiotic_induced0.64886820
133MP0002080_prenatal_lethality0.64522859
134MP0002066_abnormal_motor_capabilities/c0.64222328
135MP0000350_abnormal_cell_proliferation0.63223434
136MP0001661_extended_life_span0.62094556
137MP0002876_abnormal_thyroid_physiology0.59833717
138MP0010234_abnormal_vibrissa_follicle0.59600218
139MP0000639_abnormal_adrenal_gland0.57190588
140MP0009115_abnormal_fat_cell0.57087393
141MP0003638_abnormal_response/metabolism_0.55519851
142MP0003959_abnormal_lean_body0.55153393
143MP0003690_abnormal_glial_cell0.54950915
144MP0008961_abnormal_basal_metabolism0.53081669
145MP0002136_abnormal_kidney_physiology0.50847202
146MP0009672_abnormal_birth_weight0.50757591
147MP0002269_muscular_atrophy0.50550138
148MP0003953_abnormal_hormone_level0.50032378
149MP0005464_abnormal_platelet_physiology0.48505599
150MP0008873_increased_physiological_sensi0.47819760
151MP0005248_abnormal_Harderian_gland0.45366262
152MP0008874_decreased_physiological_sensi0.45257767
153MP0005023_abnormal_wound_healing0.43938626
154MP0002928_abnormal_bile_duct0.42838529
155MP0004264_abnormal_extraembryonic_tissu0.42680835
156MP0000013_abnormal_adipose_tissue0.41654308
157MP0002796_impaired_skin_barrier0.41572537
158MP0003075_altered_response_to0.40951686
159MP0005408_hypopigmentation0.40765790
160* MP0006035_abnormal_mitochondrial_morpho0.39782325
161MP0005395_other_phenotype0.39587185
162MP0001243_abnormal_dermal_layer0.39358015
163MP0001881_abnormal_mammary_gland0.38759473
164MP0003300_gastrointestinal_ulcer0.36824261
165MP0002168_other_aberrant_phenotype0.36631368
166MP0002060_abnormal_skin_morphology0.36254898
167MP0001915_intracranial_hemorrhage0.34725515
168MP0005452_abnormal_adipose_tissue0.33693882
169MP0001944_abnormal_pancreas_morphology0.33139319
170MP0000003_abnormal_adipose_tissue0.32939160
171MP0002909_abnormal_adrenal_gland0.32918857
172MP0005187_abnormal_penis_morphology0.31819191
173* MP0002135_abnormal_kidney_morphology0.31782994
174MP0003566_abnormal_cell_adhesion0.30143992

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)6.86642670
2Abnormality of aromatic amino acid family metabolism (HP:0004338)6.65825895
3Intrahepatic cholestasis (HP:0001406)6.54350660
4Xanthomatosis (HP:0000991)6.14804066
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.09917605
6Hypobetalipoproteinemia (HP:0003563)5.82746212
7Prolonged partial thromboplastin time (HP:0003645)5.44870041
8Hyperlipoproteinemia (HP:0010980)5.08771860
9Complement deficiency (HP:0004431)4.98174812
10Hyperammonemia (HP:0001987)4.65112258
11Ketosis (HP:0001946)4.54845946
12Hypolipoproteinemia (HP:0010981)4.50474919
13Hyperglycinemia (HP:0002154)4.38528880
14Epidermoid cyst (HP:0200040)4.37050207
15Abnormality of glutamine family amino acid metabolism (HP:0010902)4.25221603
16Hyperglycinuria (HP:0003108)4.23254378
17Abnormality of serine family amino acid metabolism (HP:0010894)4.16352842
18Abnormality of glycine metabolism (HP:0010895)4.16352842
19Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.12510221
20Abnormality of the common coagulation pathway (HP:0010990)4.06903586
21Abnormality of sulfur amino acid metabolism (HP:0004339)4.06094321
22Hypoalphalipoproteinemia (HP:0003233)4.04239338
23Hypoglycemic coma (HP:0001325)3.94721929
24Joint hemorrhage (HP:0005261)3.88699896
25Abnormality of aspartate family amino acid metabolism (HP:0010899)3.84373024
26Exercise-induced myalgia (HP:0003738)3.79024117
27Abnormality of methionine metabolism (HP:0010901)3.75163793
28Abnormality of complement system (HP:0005339)3.70172240
29Abnormality of the intrinsic pathway (HP:0010989)3.63128413
30Fat malabsorption (HP:0002630)3.59336287
31Hypercholesterolemia (HP:0003124)3.46311680
32Hyperacusis (HP:0010780)3.41548613
33Ketoacidosis (HP:0001993)3.35914311
34Centrally nucleated skeletal muscle fibers (HP:0003687)3.32988880
35Abnormality of pyrimidine metabolism (HP:0004353)3.32917395
36Type 1 muscle fiber predominance (HP:0003803)3.22239597
37* Abnormality of fatty-acid metabolism (HP:0004359)3.17349923
38Obstructive sleep apnea (HP:0002870)3.14719721
39Muscle fiber inclusion bodies (HP:0100299)3.09581900
40Skin nodule (HP:0200036)3.05585780
41Spastic diplegia (HP:0001264)3.01600355
42Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.00691460
43Myopathic facies (HP:0002058)3.00573968
44Abnormality of serum amino acid levels (HP:0003112)2.98152967
45Hepatocellular carcinoma (HP:0001402)2.97834067
46Increased connective tissue (HP:0009025)2.97700588
47Hyperbilirubinemia (HP:0002904)2.97351475
48Abnormality of nucleobase metabolism (HP:0010932)2.96617571
49Cerebral inclusion bodies (HP:0100314)2.96038670
50Myocardial infarction (HP:0001658)2.94376355
51Protrusio acetabuli (HP:0003179)2.93985813
52Increased variability in muscle fiber diameter (HP:0003557)2.93157763
53Gout (HP:0001997)2.91963987
54Nemaline bodies (HP:0003798)2.89469986
55Insomnia (HP:0100785)2.87369294
56Conjugated hyperbilirubinemia (HP:0002908)2.86521538
57Abnormality of skeletal muscle fiber size (HP:0012084)2.85483395
58Neurofibrillary tangles (HP:0002185)2.84761230
59* Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.80608152
60Delayed CNS myelination (HP:0002188)2.80374404
61Abnormality of purine metabolism (HP:0004352)2.78467658
62Distal lower limb amyotrophy (HP:0008944)2.77840661
63Dicarboxylic aciduria (HP:0003215)2.70841098
64Abnormality of dicarboxylic acid metabolism (HP:0010995)2.70841098
65Metabolic acidosis (HP:0001942)2.65346302
66Neonatal onset (HP:0003623)2.60606633
67Calcaneovalgus deformity (HP:0001848)2.59899072
68Steatorrhea (HP:0002570)2.58732403
69Spontaneous abortion (HP:0005268)2.52484796
70Lower limb amyotrophy (HP:0007210)2.48703266
71Shallow orbits (HP:0000586)2.47563534
72Spinal rigidity (HP:0003306)2.45340302
73Achilles tendon contracture (HP:0001771)2.44948767
74Mildly elevated creatine phosphokinase (HP:0008180)2.44668573
75Hypoglycemic seizures (HP:0002173)2.43142782
76Lethargy (HP:0001254)2.42322894
77Ankle clonus (HP:0011448)2.42145003
78Late onset (HP:0003584)2.39426339
79Exercise-induced muscle cramps (HP:0003710)2.39290390
80Supranuclear gaze palsy (HP:0000605)2.38834448
81Abnormality of the calcaneus (HP:0008364)2.38722433
82Dysmetric saccades (HP:0000641)2.35399194
83Cerebral aneurysm (HP:0004944)2.33949707
84Acanthocytosis (HP:0001927)2.33414993
85Systemic lupus erythematosus (HP:0002725)2.31727023
86Irritability (HP:0000737)2.30997727
87Cholelithiasis (HP:0001081)2.28979899
88Cholecystitis (HP:0001082)2.28857159
89Abnormal gallbladder physiology (HP:0012438)2.28857159
90Hypochromic microcytic anemia (HP:0004840)2.27552551
91Round ear (HP:0100830)2.26633001
92Abnormality of proline metabolism (HP:0010907)2.26281777
93Hydroxyprolinuria (HP:0003080)2.26281777
94Abnormal gallbladder morphology (HP:0012437)2.25923749
95Malnutrition (HP:0004395)2.25502546
96Distal lower limb muscle weakness (HP:0009053)2.20578326
97Difficulty climbing stairs (HP:0003551)2.20542160
98Sensorimotor neuropathy (HP:0007141)2.19027554
99Deformed tarsal bones (HP:0008119)2.15609263
100Upper limb amyotrophy (HP:0009129)2.15203404
101Distal upper limb amyotrophy (HP:0007149)2.15203404
102Hypercortisolism (HP:0001578)2.14053420
103Muscle stiffness (HP:0003552)2.13978036
104Mitral stenosis (HP:0001718)2.12620998
105Muscle fiber splitting (HP:0003555)2.12151606
106Ulnar bowing (HP:0003031)2.11764702
107Abnormality of the Achilles tendon (HP:0005109)2.11599746
108Hyporeflexia of lower limbs (HP:0002600)2.08377973
109EMG: myopathic abnormalities (HP:0003458)2.08130448
110Foot dorsiflexor weakness (HP:0009027)2.08099406
111Amyloidosis (HP:0011034)2.07855511
112Cerebral edema (HP:0002181)2.07614198
113Pancreatitis (HP:0001733)2.07336100
114Esophageal varix (HP:0002040)2.06633459
115Vertebral compression fractures (HP:0002953)2.06519119
116Myokymia (HP:0002411)2.04705494
117Vascular calcification (HP:0004934)2.03031233
118Vomiting (HP:0002013)2.00579939
119Back pain (HP:0003418)2.00176877
120Progressive muscle weakness (HP:0003323)1.99722551
121Hyperparathyroidism (HP:0000843)1.99466490
122* Turricephaly (HP:0000262)1.98148549
123Glomerulonephritis (HP:0000099)1.98095704
124Broad face (HP:0000283)1.97933171
125Overriding aorta (HP:0002623)1.97538689
126Hemorrhage of the eye (HP:0011885)1.97426506
127Hyperinsulinemic hypoglycemia (HP:0000825)1.96622761
128Hyperuricemia (HP:0002149)1.96209355
129Increased purine levels (HP:0004368)1.96209355
130Abnormality of the lower motor neuron (HP:0002366)1.96090742
131Generalized aminoaciduria (HP:0002909)1.95894558
132Menorrhagia (HP:0000132)1.95247950
133Difficulty running (HP:0009046)1.95020452
134Hypertriglyceridemia (HP:0002155)1.93411120
135Abnormality of transition element cation homeostasis (HP:0011030)1.92182197
136Bowel incontinence (HP:0002607)1.91584923
137Premature rupture of membranes (HP:0001788)1.91341536
138Cardiovascular calcification (HP:0011915)1.90491881
139Abnormality of iron homeostasis (HP:0011031)1.90329933
140Abnormality of the foot musculature (HP:0001436)1.89702177
141Subaortic stenosis (HP:0001682)1.89231614
142Abnormality of the left ventricular outflow tract (HP:0011103)1.89231614
143Opisthotonus (HP:0002179)1.88287721
144Hammertoe (HP:0001765)1.88233574
145Status epilepticus (HP:0002133)1.87664073
146Bronchomalacia (HP:0002780)1.86052862
147Depression (HP:0000716)1.83213904
148Thrombophlebitis (HP:0004418)1.83044122
149* Abnormal cartilage morphology (HP:0002763)1.82820038
150Pointed chin (HP:0000307)1.82581282
151Abnormal enzyme/coenzyme activity (HP:0012379)1.81656783
152Asymmetric septal hypertrophy (HP:0001670)1.81599002
153Abnormality of the gallbladder (HP:0005264)1.80630144
154Asymmetry of the thorax (HP:0001555)1.80532950
155Ankyloglossia (HP:0010296)1.79513145
156Renovascular hypertension (HP:0100817)1.79357049
157Insidious onset (HP:0003587)1.79346802
158Termporal pattern (HP:0011008)1.79346802
159Scapular winging (HP:0003691)1.79029405
160Myoglobinuria (HP:0002913)1.77210282
161Enlarged kidneys (HP:0000105)1.76615356
162Abnormal large intestine physiology (HP:0012700)1.75732180
163Mitral regurgitation (HP:0001653)1.75599240
164Proximal tubulopathy (HP:0000114)1.75517929
165Reticulocytosis (HP:0001923)1.73500274
166Urinary urgency (HP:0000012)1.73336586
167Recurrent gram-negative bacterial infections (HP:0005420)1.72816201
168Vertebral arch anomaly (HP:0008438)1.72147303
169Gingival bleeding (HP:0000225)1.72146683
170Elfin facies (HP:0004428)1.71968906
171Ulnar deviation of the wrist (HP:0003049)1.71790290
172Stroke (HP:0001297)1.71680494
173Arnold-Chiari malformation (HP:0002308)1.71094256
174Rhabdomyolysis (HP:0003201)1.70373814
175Germ cell neoplasia (HP:0100728)1.68807780
176Long palpebral fissure (HP:0000637)1.67775070
177Flat acetabular roof (HP:0003180)1.67185046
178Ragged-red muscle fibers (HP:0003200)1.67008571
179Thin ribs (HP:0000883)1.66961392
180Athetosis (HP:0002305)1.66661141
181Precocious puberty (HP:0000826)1.66383871
182Hypercalcemia (HP:0003072)1.66178322
183Biconcave vertebral bodies (HP:0004586)1.66157712
184Bulbar palsy (HP:0001283)1.66142658
185Neuronal loss in central nervous system (HP:0002529)1.62261174
186Bundle branch block (HP:0011710)1.61352092
187Bladder diverticulum (HP:0000015)1.61059968
188Peripheral hypomyelination (HP:0007182)1.60290851
189Spastic gait (HP:0002064)1.59315729
190Abnormality of the salivary glands (HP:0010286)1.58418775
191Renal duplication (HP:0000075)1.56112981
192Distal arthrogryposis (HP:0005684)1.55270574
193Distal sensory impairment (HP:0002936)1.54624945
194Advanced eruption of teeth (HP:0006288)1.54512158
195Atrioventricular block (HP:0001678)1.53393852

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.21105425
2SIK14.46914375
3TRIB34.35978418
4ERN14.32203721
5PKN23.66530610
6FGFR43.34168669
7PRPF4B3.32077404
8SMG13.30999344
9PRKD32.27675898
10CDK122.07843518
11ARAF1.99033069
12FLT31.93655199
13TAOK31.92833330
14EEF2K1.85795664
15MAP3K101.78176967
16ERBB41.77574006
17MAP2K41.74412588
18PTK61.74009536
19PHKG21.70772015
20PHKG11.70772015
21MAP3K131.68893152
22NTRK11.62120813
23RIPK11.57846640
24LATS21.39728315
25MAPK111.39509172
26IRAK31.38027619
27DAPK21.37693319
28PDGFRA1.35275397
29INSRR1.31437412
30GRK61.28239790
31MST1R1.27184724
32LATS11.24313380
33CAMK1D1.22395022
34PDK41.19942007
35PDK31.19942007
36LMTK21.17920359
37ICK1.12360652
38MARK21.11535792
39KSR21.10296876
40OBSCN1.07155785
41MAP3K111.06731175
42MAP3K71.05766516
43BRAF1.02875374
44MAP2K31.00236727
45NEK11.00197600
46SCYL20.99989968
47MOS0.99892452
48PIK3CG0.99175112
49JAK20.98469064
50UHMK10.98468361
51RET0.97208625
52ABL20.95896927
53PTK20.93590404
54MAP2K10.91793782
55NTRK30.89780328
56PRKAA20.88110536
57TYK20.86622306
58MAPKAPK30.86107727
59CDK60.84853620
60LRRK20.84215809
61MTOR0.82634931
62DDR20.81010241
63FGFR20.78677078
64MAPK40.78345752
65TAOK20.76904296
66NTRK20.76431540
67NME20.75359208
68KDR0.73857250
69BMX0.73077030
70TESK10.70898181
71TAOK10.70490144
72EPHA40.70250564
73SGK30.69781987
74ERBB20.68436272
75PAK20.67592400
76RPS6KA20.66169167
77PINK10.64641743
78PDPK10.64580074
79PRKCZ0.63356580
80DYRK1B0.63288317
81AKT20.62393703
82MAPK120.62189140
83NEK60.62019024
84FGFR10.61825558
85PRKAA10.61457545
86JAK10.61011573
87FGFR30.60704822
88SIK20.60437147
89TTN0.59928716
90STK380.59625614
91CAMK1G0.59367363
92EPHB10.58237132
93TBK10.57882869
94GSK3A0.57851950
95MET0.57787284
96MAPK100.56389975
97ALK0.55304350
98CDK11A0.54991440
99PRKACG0.54280722
100CDK150.53390981
101SGK2230.52597274
102SGK4940.52597274
103BRD40.52454866
104MAP3K30.50200429
105MAP3K60.49391680
106PAK30.48584090
107MAP3K90.47331781
108PDK10.46575234
109RPS6KB10.46363708
110CSF1R0.46275209
111CAMKK10.45009899
112CDK40.44733084
113CDK180.44267704
114CDK50.43481395
115RPS6KB20.43048939
116PRKCH0.42835302
117RAF10.42820709
118PRKD20.42666244
119TGFBR10.41629550
120MAP3K50.41478609
121CDK140.40955993
122TYRO30.40149961
123FRK0.39991377
124EPHA20.39453057
125MAP2K60.38680647
126CAMK2G0.38148061
127TGFBR20.37692221
128MATK0.36500540
129MAP2K20.35777112
130PAK40.34900479
131FER0.34740612
132MARK10.34536241
133ACVR1B0.34421165
134KSR10.34375712
135DAPK10.34257322
136PDGFRB0.33856994
137RPS6KA10.32988926
138RPS6KL10.32806605
139RPS6KC10.32806605
140CDK90.32796592
141CSK0.32612724
142IRAK20.32558338
143MAP3K80.32550730
144CDC42BPA0.32399923
145MAP3K20.31970349
146IGF1R0.29765942
147DAPK30.29643550
148MAP3K10.28887706
149PAK60.28093679

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.19502656
2Nitrogen metabolism_Homo sapiens_hsa009103.72063329
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.35660527
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.21892338
5Arginine biosynthesis_Homo sapiens_hsa002203.05213837
6Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.80493600
7Fatty acid degradation_Homo sapiens_hsa000712.69349874
8Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.66391299
9Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.65862367
10Tryptophan metabolism_Homo sapiens_hsa003802.59118366
11Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.45364556
12Complement and coagulation cascades_Homo sapiens_hsa046102.43601596
13Butanoate metabolism_Homo sapiens_hsa006502.25164366
14Propanoate metabolism_Homo sapiens_hsa006402.23608620
152-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.11747962
16PPAR signaling pathway_Homo sapiens_hsa033202.08885479
17Fatty acid metabolism_Homo sapiens_hsa012122.08404639
18Pentose and glucuronate interconversions_Homo sapiens_hsa000402.07027425
19Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.00444788
20* Peroxisome_Homo sapiens_hsa041461.95948856
21Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.78466621
22Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.73418440
23beta-Alanine metabolism_Homo sapiens_hsa004101.72488363
24Caffeine metabolism_Homo sapiens_hsa002321.69593882
25Selenocompound metabolism_Homo sapiens_hsa004501.67481140
26Pyruvate metabolism_Homo sapiens_hsa006201.65529157
27Drug metabolism - other enzymes_Homo sapiens_hsa009831.63923872
28Chemical carcinogenesis_Homo sapiens_hsa052041.63436934
29Long-term potentiation_Homo sapiens_hsa047201.60262360
30Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.58683203
31Histidine metabolism_Homo sapiens_hsa003401.56393151
32Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.55997968
33Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.54221807
34Steroid hormone biosynthesis_Homo sapiens_hsa001401.53383754
35Chronic myeloid leukemia_Homo sapiens_hsa052201.51688883
36Bile secretion_Homo sapiens_hsa049761.48868052
37Biosynthesis of amino acids_Homo sapiens_hsa012301.45060266
38Thyroid hormone signaling pathway_Homo sapiens_hsa049191.44102574
39Carbon metabolism_Homo sapiens_hsa012001.43203160
40Glioma_Homo sapiens_hsa052141.42968819
41Endometrial cancer_Homo sapiens_hsa052131.42962165
42Phenylalanine metabolism_Homo sapiens_hsa003601.40080599
43Staphylococcus aureus infection_Homo sapiens_hsa051501.39654565
44Thyroid cancer_Homo sapiens_hsa052161.37253711
45Retinol metabolism_Homo sapiens_hsa008301.35940337
46Cysteine and methionine metabolism_Homo sapiens_hsa002701.35483703
47VEGF signaling pathway_Homo sapiens_hsa043701.35370030
48Fat digestion and absorption_Homo sapiens_hsa049751.31750444
49Notch signaling pathway_Homo sapiens_hsa043301.30835147
50ErbB signaling pathway_Homo sapiens_hsa040121.30560511
51Non-small cell lung cancer_Homo sapiens_hsa052231.30241039
52Starch and sucrose metabolism_Homo sapiens_hsa005001.27199364
53Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.24272491
54Tyrosine metabolism_Homo sapiens_hsa003501.20791692
55Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.20238990
56Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.18832310
57Fatty acid elongation_Homo sapiens_hsa000621.18322211
58Neurotrophin signaling pathway_Homo sapiens_hsa047221.17290814
59Synaptic vesicle cycle_Homo sapiens_hsa047211.17032133
60Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.12156514
61Sulfur metabolism_Homo sapiens_hsa009201.11856012
62GnRH signaling pathway_Homo sapiens_hsa049121.11589376
63Folate biosynthesis_Homo sapiens_hsa007901.11195255
64Cyanoamino acid metabolism_Homo sapiens_hsa004601.09206407
65Estrogen signaling pathway_Homo sapiens_hsa049151.08511001
66Sulfur relay system_Homo sapiens_hsa041221.08375964
67Renal cell carcinoma_Homo sapiens_hsa052111.07455007
68Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.02863053
69ABC transporters_Homo sapiens_hsa020101.01555217
70Phosphatidylinositol signaling system_Homo sapiens_hsa040700.97306204
71Dilated cardiomyopathy_Homo sapiens_hsa054140.97053965
72Lysine degradation_Homo sapiens_hsa003100.91594770
73Aldosterone synthesis and secretion_Homo sapiens_hsa049250.91511128
74Fatty acid biosynthesis_Homo sapiens_hsa000610.91341985
75Other glycan degradation_Homo sapiens_hsa005110.90679077
76Phospholipase D signaling pathway_Homo sapiens_hsa040720.90311487
77Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.89480912
78Inositol phosphate metabolism_Homo sapiens_hsa005620.89277123
79Glycerolipid metabolism_Homo sapiens_hsa005610.88955093
80Pancreatic cancer_Homo sapiens_hsa052120.88729050
81Melanogenesis_Homo sapiens_hsa049160.87858552
82Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.87483103
83Steroid biosynthesis_Homo sapiens_hsa001000.87296793
84Arginine and proline metabolism_Homo sapiens_hsa003300.86951102
85Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.86081482
86Focal adhesion_Homo sapiens_hsa045100.84800852
87Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.84357222
88AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.83698599
89One carbon pool by folate_Homo sapiens_hsa006700.82437216
90Adherens junction_Homo sapiens_hsa045200.80927020
91Maturity onset diabetes of the young_Homo sapiens_hsa049500.79289155
92Choline metabolism in cancer_Homo sapiens_hsa052310.77559059
93Vitamin B6 metabolism_Homo sapiens_hsa007500.76503648
94Gastric acid secretion_Homo sapiens_hsa049710.76176997
95Pentose phosphate pathway_Homo sapiens_hsa000300.75997301
96Vitamin digestion and absorption_Homo sapiens_hsa049770.74863434
97Proteoglycans in cancer_Homo sapiens_hsa052050.74235003
98Gap junction_Homo sapiens_hsa045400.73111904
99cGMP-PKG signaling pathway_Homo sapiens_hsa040220.72902494
100Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.69964930
101Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.68910661
102Oxytocin signaling pathway_Homo sapiens_hsa049210.67586503
103MicroRNAs in cancer_Homo sapiens_hsa052060.67547439
104Colorectal cancer_Homo sapiens_hsa052100.66776120
105Prostate cancer_Homo sapiens_hsa052150.66270738
106Prolactin signaling pathway_Homo sapiens_hsa049170.65590349
107mRNA surveillance pathway_Homo sapiens_hsa030150.64500598
108HIF-1 signaling pathway_Homo sapiens_hsa040660.61651400
109Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.60097907
110Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.59796327
111B cell receptor signaling pathway_Homo sapiens_hsa046620.58815437
112Cholinergic synapse_Homo sapiens_hsa047250.58578975
113Small cell lung cancer_Homo sapiens_hsa052220.58530839
114Tight junction_Homo sapiens_hsa045300.58435067
115Axon guidance_Homo sapiens_hsa043600.58256991
116Insulin secretion_Homo sapiens_hsa049110.57985896
117Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.57891865
118Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.57193921
119Basal cell carcinoma_Homo sapiens_hsa052170.56686370
120Glutathione metabolism_Homo sapiens_hsa004800.55818257
121Amphetamine addiction_Homo sapiens_hsa050310.55164169
122Vibrio cholerae infection_Homo sapiens_hsa051100.54900625
123Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.52746163
124MAPK signaling pathway_Homo sapiens_hsa040100.52646541
125Adipocytokine signaling pathway_Homo sapiens_hsa049200.46562430
126Fructose and mannose metabolism_Homo sapiens_hsa000510.45804423
127Insulin resistance_Homo sapiens_hsa049310.44525248
128Prion diseases_Homo sapiens_hsa050200.43427749
129Galactose metabolism_Homo sapiens_hsa000520.43396737
130Metabolic pathways_Homo sapiens_hsa011000.38140321
131AMPK signaling pathway_Homo sapiens_hsa041520.33470757
132Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.29635677
133Glucagon signaling pathway_Homo sapiens_hsa049220.28653056
134Central carbon metabolism in cancer_Homo sapiens_hsa052300.18445578
135Insulin signaling pathway_Homo sapiens_hsa049100.17783690
136Glycerophospholipid metabolism_Homo sapiens_hsa005640.17395709
137alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.07947297
138Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.06100880
139Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.03429288
140Bladder cancer_Homo sapiens_hsa052190.03153496
141Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.03124445
142Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.00910474
143Acute myeloid leukemia_Homo sapiens_hsa05221-0.1784341
144Type II diabetes mellitus_Homo sapiens_hsa04930-0.1650868
145Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1554553
146Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa00970-0.1482605
147Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1342357
148Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1202741
149mTOR signaling pathway_Homo sapiens_hsa04150-0.1132554
150Protein digestion and absorption_Homo sapiens_hsa04974-0.1075868
151Ovarian steroidogenesis_Homo sapiens_hsa04913-0.1048347
152Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923-0.1019087
153Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.0997664
154Renin-angiotensin system_Homo sapiens_hsa04614-0.0995116
155Amoebiasis_Homo sapiens_hsa05146-0.0860712
156Linoleic acid metabolism_Homo sapiens_hsa00591-0.0362303
157Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.0104752
158Longevity regulating pathway - mammal_Homo sapiens_hsa04211-0.0020379

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