PSEN2

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: Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1 or PSEN2) or the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor such that, they either directly regulate gamma-secretase activity, or themselves act are protease enzymes. Two alternatively spliced transcript variants encoding different isoforms of PSEN2 have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine catabolic process (GO:0006559)7.07766944
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.07766944
3erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.75525693
4L-phenylalanine metabolic process (GO:0006558)6.75525693
5aromatic amino acid family catabolic process (GO:0009074)6.34311015
6glycosphingolipid catabolic process (GO:0046479)5.95081904
7triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.78366304
8melanin biosynthetic process (GO:0042438)5.73459129
9indole-containing compound catabolic process (GO:0042436)5.70975594
10indolalkylamine catabolic process (GO:0046218)5.70975594
11tryptophan catabolic process (GO:0006569)5.70975594
12glycolipid catabolic process (GO:0019377)5.61386569
13Golgi transport vesicle coating (GO:0048200)5.44700520
14COPI coating of Golgi vesicle (GO:0048205)5.44700520
15bile acid biosynthetic process (GO:0006699)5.43720449
16tryptophan metabolic process (GO:0006568)5.39187054
17kynurenine metabolic process (GO:0070189)5.31290090
18urea cycle (GO:0000050)5.22763637
19urea metabolic process (GO:0019627)5.22763637
20high-density lipoprotein particle remodeling (GO:0034375)5.16315880
21negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)5.04799344
22ceramide catabolic process (GO:0046514)5.04418113
23sulfur amino acid catabolic process (GO:0000098)4.94502377
24protein carboxylation (GO:0018214)4.93341715
25peptidyl-glutamic acid carboxylation (GO:0017187)4.93341715
26glyoxylate metabolic process (GO:0046487)4.90742191
27tyrosine metabolic process (GO:0006570)4.90228576
28melanin metabolic process (GO:0006582)4.88451268
29nitrogen cycle metabolic process (GO:0071941)4.86315773
30cysteine metabolic process (GO:0006534)4.86080884
31alpha-linolenic acid metabolic process (GO:0036109)4.82900103
32negative regulation of fibrinolysis (GO:0051918)4.81051455
33complement activation, alternative pathway (GO:0006957)4.80729043
34regulation of fibrinolysis (GO:0051917)4.77393996
35aromatic amino acid family metabolic process (GO:0009072)4.74891862
36fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.73400230
37regulation of cholesterol esterification (GO:0010872)4.69607920
38sphingolipid catabolic process (GO:0030149)4.68534063
39regulation of protein activation cascade (GO:2000257)4.65983075
40membrane lipid catabolic process (GO:0046466)4.65873792
41bile acid metabolic process (GO:0008206)4.57438869
42phospholipid efflux (GO:0033700)4.51808088
43reverse cholesterol transport (GO:0043691)4.45883809
44macromolecular complex remodeling (GO:0034367)4.42922958
45plasma lipoprotein particle remodeling (GO:0034369)4.42922958
46protein-lipid complex remodeling (GO:0034368)4.42922958
47regulation of triglyceride catabolic process (GO:0010896)4.42359255
48secondary metabolite biosynthetic process (GO:0044550)4.38049283
49serine family amino acid catabolic process (GO:0009071)4.36389983
50regulation of complement activation (GO:0030449)4.35436296
51acylglycerol homeostasis (GO:0055090)4.20792852
52triglyceride homeostasis (GO:0070328)4.20792852
53homocysteine metabolic process (GO:0050667)4.14283932
54amine catabolic process (GO:0009310)4.13285160
55cellular biogenic amine catabolic process (GO:0042402)4.13285160
56alpha-amino acid catabolic process (GO:1901606)4.12625709
57indolalkylamine metabolic process (GO:0006586)4.12256753
58plasma lipoprotein particle clearance (GO:0034381)4.10592486
59aldehyde catabolic process (GO:0046185)4.08660478
60imidazole-containing compound metabolic process (GO:0052803)4.05916124
61amino-acid betaine metabolic process (GO:0006577)4.05135834
62coenzyme catabolic process (GO:0009109)4.04689107
63cellular glucuronidation (GO:0052695)4.01769834
64cholesterol efflux (GO:0033344)4.00934269
65negative regulation of cholesterol transport (GO:0032375)3.99220584
66negative regulation of sterol transport (GO:0032372)3.99220584
67bile acid and bile salt transport (GO:0015721)3.95317101
68low-density lipoprotein particle remodeling (GO:0034374)3.87150104
69benzene-containing compound metabolic process (GO:0042537)3.86073820
70cofactor catabolic process (GO:0051187)3.84822086
71plasma lipoprotein particle assembly (GO:0034377)3.81224159
72NAD biosynthetic process (GO:0009435)3.79929871
73lysine metabolic process (GO:0006553)3.79778793
74lysine catabolic process (GO:0006554)3.79778793
75cellular amino acid catabolic process (GO:0009063)3.79610779
76blood coagulation, intrinsic pathway (GO:0007597)3.77810479
77* endoplasmic reticulum calcium ion homeostasis (GO:0032469)3.77493440
78oligosaccharide catabolic process (GO:0009313)3.75196100
79ethanol oxidation (GO:0006069)3.73931613
80positive regulation of lipoprotein lipase activity (GO:0051006)3.71260339
81positive regulation of triglyceride lipase activity (GO:0061365)3.71260339
82glucuronate metabolic process (GO:0019585)3.71161835
83uronic acid metabolic process (GO:0006063)3.71161835
84NADH metabolic process (GO:0006734)3.69586801
85cellular ketone body metabolic process (GO:0046950)3.69585508
86glycine metabolic process (GO:0006544)3.66963248
87maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.65388294
88negative regulation of lipase activity (GO:0060192)3.64964093
89fibrinolysis (GO:0042730)3.63261578
90amino sugar catabolic process (GO:0046348)3.62894579
91cellular modified amino acid catabolic process (GO:0042219)3.62410727
92arginine metabolic process (GO:0006525)3.61901380
93nicotinamide nucleotide biosynthetic process (GO:0019359)3.59439525
94pyridine nucleotide biosynthetic process (GO:0019363)3.59439525
95very-low-density lipoprotein particle assembly (GO:0034379)3.58572446
96serine family amino acid metabolic process (GO:0009069)3.54695849
97protein activation cascade (GO:0072376)3.54533826
98complement activation, classical pathway (GO:0006958)3.52828604
99glutamate metabolic process (GO:0006536)3.48998908
100plasma lipoprotein particle organization (GO:0071827)3.48617816
101complement activation (GO:0006956)3.46658345
102organic acid catabolic process (GO:0016054)3.44149574
103carboxylic acid catabolic process (GO:0046395)3.44149574
104protein maturation by protein folding (GO:0022417)3.43574512
105ketone body metabolic process (GO:1902224)3.43026107
106opsonization (GO:0008228)3.42632325
107protein retention in ER lumen (GO:0006621)3.41301639
108acute-phase response (GO:0006953)3.40203571
109protein-lipid complex assembly (GO:0065005)3.38578292
110response to nitrosative stress (GO:0051409)3.38233829
111cholesterol homeostasis (GO:0042632)3.34923696
112short-chain fatty acid metabolic process (GO:0046459)3.33991447
113tricarboxylic acid cycle (GO:0006099)3.33002268
114phospholipid homeostasis (GO:0055091)3.31908372
115response to thyroid hormone (GO:0097066)3.30530302
116cellular response to arsenic-containing substance (GO:0071243)3.30151083
117positive regulation of lipid catabolic process (GO:0050996)3.28233201
118positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.28027421
119sterol homeostasis (GO:0055092)3.27705548
120retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.27206528
121serine family amino acid biosynthetic process (GO:0009070)3.26990240
122protein-lipid complex subunit organization (GO:0071825)3.25959335
123nitric oxide biosynthetic process (GO:0006809)3.25436429
124L-alpha-amino acid transmembrane transport (GO:1902475)3.24058061
125cytolysis (GO:0019835)3.22325901
126ATP hydrolysis coupled proton transport (GO:0015991)3.22143560
127energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)3.22143560
128protein localization to endosome (GO:0036010)3.21776113
129mitochondrial fusion (GO:0008053)3.14040787
130keratan sulfate catabolic process (GO:0042340)3.13491093
131gluconeogenesis (GO:0006094)3.07051772
132glycosylceramide metabolic process (GO:0006677)3.02571598
133endosome to melanosome transport (GO:0035646)3.02230312
134endosome to pigment granule transport (GO:0043485)3.02230312
135lipopolysaccharide biosynthetic process (GO:0009103)2.99469648
136adhesion of symbiont to host (GO:0044406)2.99415322
137adhesion of symbiont to host cell (GO:0044650)2.99300420
138virion attachment to host cell (GO:0019062)2.99300420
139transferrin transport (GO:0033572)2.97861818
140hexose biosynthetic process (GO:0019319)2.95961772
141monosaccharide biosynthetic process (GO:0046364)2.92256592
142proline biosynthetic process (GO:0006561)2.87363047
143regulation of vascular endothelial growth factor signaling pathway (GO:1900746)2.83900989
144fructose metabolic process (GO:0006000)2.79802823
145* amyloid precursor protein catabolic process (GO:0042987)2.79671629
146cellular response to thyroid hormone stimulus (GO:0097067)2.79630276
147sphingosine metabolic process (GO:0006670)2.78366120
148galactose catabolic process (GO:0019388)2.77604527
149trivalent inorganic cation transport (GO:0072512)2.77524480
150ferric iron transport (GO:0015682)2.77524480
151glucosamine-containing compound catabolic process (GO:1901072)2.75890743
152pigment cell differentiation (GO:0050931)2.75883173
153vitamin D metabolic process (GO:0042359)2.74722007
154cellular copper ion homeostasis (GO:0006878)2.73515712
155barbed-end actin filament capping (GO:0051016)2.61916448
156sarcoplasmic reticulum calcium ion transport (GO:0070296)2.58307834
157regulation of protein sumoylation (GO:0033233)2.56762559
158regulation of membrane protein ectodomain proteolysis (GO:0051043)2.55207029
159regulation of cholesterol storage (GO:0010885)2.53814506
160zinc ion transmembrane transport (GO:0071577)2.51279425
161macroautophagy (GO:0016236)2.50679718
162lipopolysaccharide metabolic process (GO:0008653)2.48779137
163muscle cell cellular homeostasis (GO:0046716)2.48198796
164calcium-mediated signaling using intracellular calcium source (GO:0035584)2.48022721
165galactose metabolic process (GO:0006012)2.47781771
166positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.47559156
167skeletal muscle contraction (GO:0003009)2.45682005
168glycosphingolipid metabolic process (GO:0006687)2.44475425
169nuclear envelope reassembly (GO:0031468)2.43362739
170mitotic nuclear envelope reassembly (GO:0007084)2.43362739
171COPII vesicle coating (GO:0048208)2.43294123
172epithelial cell-cell adhesion (GO:0090136)2.41960110
173pigment biosynthetic process (GO:0046148)2.41826504
174inner mitochondrial membrane organization (GO:0007007)2.40927326
175muscle filament sliding (GO:0030049)2.40838844
176actin-myosin filament sliding (GO:0033275)2.40838844
177negative regulation of mitochondrion organization (GO:0010823)2.39407627
178glycogen catabolic process (GO:0005980)2.38990592
179negative regulation of release of cytochrome c from mitochondria (GO:0090201)2.38386009
180regulation of integrin-mediated signaling pathway (GO:2001044)2.38187569
181hyaluronan catabolic process (GO:0030214)2.36697538
182eosinophil chemotaxis (GO:0048245)2.36605563
183pinocytosis (GO:0006907)2.35786676
184regulation of early endosome to late endosome transport (GO:2000641)2.35560995
185glycoside metabolic process (GO:0016137)2.34484152
186negative regulation of hydrogen peroxide-induced cell death (GO:1903206)2.34368687
187activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.32984907
188regulation of mononuclear cell migration (GO:0071675)2.32769298
189vesicle coating (GO:0006901)2.31600665
190protein hydroxylation (GO:0018126)2.31373868
191regulation of superoxide anion generation (GO:0032928)2.30420783
192creatine metabolic process (GO:0006600)2.28712428
193pH reduction (GO:0045851)2.27259158
194diol metabolic process (GO:0034311)2.27173304
195vasodilation (GO:0042311)2.26768840

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse7.31565247
2EGR1_23403033_ChIP-Seq_LIVER_Mouse6.50552608
3PPARA_22158963_ChIP-Seq_LIVER_Mouse6.25342977
4* LXR_22158963_ChIP-Seq_LIVER_Mouse5.51809065
5CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.93177428
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.72145561
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.28733994
8CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.98707038
9IRF8_22096565_ChIP-ChIP_GC-B_Human3.25052952
10NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.14997837
11ZNF263_19887448_ChIP-Seq_K562_Human3.14191525
12TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.05579832
13TFEB_21752829_ChIP-Seq_HELA_Human2.56283663
14JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.50374536
15IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.37644195
16ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.29722935
17KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.15019416
18* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.06818696
19* ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.2761029
20BP1_19119308_ChIP-ChIP_Hs578T_Human1.98783656
21* RACK7_27058665_Chip-Seq_MCF-7_Human1.96688069
22GATA1_22025678_ChIP-Seq_K562_Human1.91381340
23DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.88515440
24ESR2_21235772_ChIP-Seq_MCF-7_Human1.87438848
25IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.85338794
26LXR_22292898_ChIP-Seq_THP-1_Human1.82562497
27HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.76930433
28HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.72390027
29STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.71140520
30DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.70552227
31TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.69941430
32TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.69842947
33PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.69800311
34E2F1_18555785_ChIP-Seq_MESCs_Mouse1.69535350
35IRF8_21731497_ChIP-ChIP_J774_Mouse1.68012879
36ZFX_18555785_ChIP-Seq_MESCs_Mouse1.64734201
37THAP11_20581084_ChIP-Seq_MESCs_Mouse1.63853044
38THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.61812932
39CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.58268392
40SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.56186324
41TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.53002913
42MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.46461472
43CTCF_18555785_ChIP-Seq_MESCs_Mouse1.45847052
44* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.45623159
45SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.45051072
46ELK3_25401928_ChIP-Seq_HUVEC_Human1.44955275
47TET1_21451524_ChIP-Seq_MESCs_Mouse1.44767817
48* STAT3_1855785_ChIP-Seq_MESCs_Mouse1.44547820
49ETS1_20019798_ChIP-Seq_JURKAT_Human1.43938357
50MYC_18358816_ChIP-ChIP_MESCs_Mouse1.43393056
51TBX5_21415370_ChIP-Seq_HL-1_Mouse1.42102255
52* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.41429233
53SIN3A_21632747_ChIP-Seq_MESCs_Mouse1.39928485
54TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.38214346
55TP63_17297297_ChIP-ChIP_HaCaT_Human1.36998618
56Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.36005084
57NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.35478806
58* IRF8_27001747_Chip-Seq_BMDM_Mouse1.34503038
59DCP1A_22483619_ChIP-Seq_HELA_Human1.33874020
60SRY_22984422_ChIP-ChIP_TESTIS_Rat1.33336247
61TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.31475604
62GABP_19822575_ChIP-Seq_HepG2_Human1.29924982
63HTT_18923047_ChIP-ChIP_STHdh_Human1.29568527
64ESR1_21235772_ChIP-Seq_MCF-7_Human1.28865914
65RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.28541549
66NELFA_20434984_ChIP-Seq_ESCs_Mouse1.25175669
67* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.23832763
68CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.22380181
69CREB1_15753290_ChIP-ChIP_HEK293T_Human1.20972929
70TBX20_22080862_ChIP-Seq_HEART_Mouse1.20860350
71TBX20_22328084_ChIP-Seq_HEART_Mouse1.20860350
72KLF4_18555785_ChIP-Seq_MESCs_Mouse1.20706778
73ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.20450879
74NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.18112266
75SCL_19346495_ChIP-Seq_HPC-7_Human1.17917462
76ATF3_27146783_Chip-Seq_COLON_Human1.16684872
77BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.15237946
78POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.15189490
79* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.14920408
80LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.14459548
81TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.13967409
82RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.13896870
83ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.13479653
84CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.13076994
85TET1_21490601_ChIP-Seq_MESCs_Mouse1.13041151
86FOXA2_19822575_ChIP-Seq_HepG2_Human1.13008481
87* MITF_21258399_ChIP-Seq_MELANOMA_Human1.12091921
88MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.11353717
89TCFCP2L1_18555785_ChIP-Seq_MESCs_Mouse1.08217331
90HNF4A_19822575_ChIP-Seq_HepG2_Human1.08123912
91GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.07946497
92ERG_20887958_ChIP-Seq_HPC-7_Mouse1.06758699
93PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.06755299
94CTCF_26484167_Chip-Seq_Bcells_Mouse1.05760420
95* KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.05504955
96CTCF_27219007_Chip-Seq_ERYTHROID_Human1.05435310
97HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.05058242
98CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.04854426
99RXRA_24833708_ChIP-Seq_LIVER_Mouse1.03702675
100KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.03274405
101SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.02552331
102ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.01823811
103* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.01558985
104HIF1A_21447827_ChIP-Seq_MCF-7_Human0.99331605
105MYC_18555785_ChIP-Seq_MESCs_Mouse0.99030796
106ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.98843672
107GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.98187279
108RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.97246322
109* UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.96310674
110NANOG_18555785_ChIP-Seq_MESCs_Mouse0.95967967
111TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.95869742
112ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.95330046
113ELF1_17652178_ChIP-ChIP_JURKAT_Human0.93556453
114CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.93318225
115ELF1_20517297_ChIP-Seq_JURKAT_Human0.92594500
116GATA1_19941827_ChIP-Seq_MEL_Mouse0.92080282
117KAP1_22055183_ChIP-Seq_ESCs_Mouse0.91097219
118CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.89083326
119RUNX_20019798_ChIP-Seq_JUKART_Human0.87772878
120CLOCK_20551151_ChIP-Seq_293T_Human0.85898982
121* MYB_21317192_ChIP-Seq_ERMYB_Mouse0.85820245
122STAT4_19710469_ChIP-ChIP_TH1__Mouse0.85220964
123LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.84780260
124FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.83626474
125BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.82812691
126SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.80313099
127BRD4_27068464_Chip-Seq_AML-cells_Mouse0.80238900
128CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.77303397
129EGR1_19032775_ChIP-ChIP_M12_Human0.75251792
130CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.74828583
131GATA2_22383799_ChIP-Seq_G1ME_Mouse0.74767228
132SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.73836294
133* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.73291323
134GATA1_22383799_ChIP-Seq_G1ME_Mouse0.72445487
135STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.72158348
136MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.71939797
137SOX2_27498859_Chip-Seq_STOMACH_Mouse0.71741136
138SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.71432415
139SRF_21415370_ChIP-Seq_HL-1_Mouse0.69992401
140SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.69865929
141PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.68626444
142GATA4_25053715_ChIP-Seq_YYC3_Human0.68070395
143PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.67958968
144CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.67770062
145SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.67670386
146* AR_20517297_ChIP-Seq_VCAP_Human0.66926688
147ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.66620030
148FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.65721963
149CEBPB_22108803_ChIP-Seq_LS180_Human0.65083280
150* RAD21_21589869_ChIP-Seq_MESCs_Mouse0.63647728
151AUTS2_25519132_ChIP-Seq_293T-REX_Human0.63385430
152RARA_24833708_ChIP-Seq_LIVER_Mouse0.62815263
153PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.62787380
154RARB_24833708_ChIP-Seq_LIVER_Mouse0.62280255
155PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.60437538
156SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.60335915
157* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.59951817
158MYB_26560356_Chip-Seq_TH1_Human0.58783007
159* GATA2_19941826_ChIP-Seq_K562_Human0.58177514
160GATA2_21666600_ChIP-Seq_HMVEC_Human0.56749723
161* PU_27001747_Chip-Seq_BMDM_Mouse0.56397584
162RARG_19884340_ChIP-ChIP_MEFs_Mouse0.55827721
163* PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.55592199
164GATA3_26560356_Chip-Seq_TH2_Human0.55055770
165PU.1_20513432_ChIP-Seq_Bcells_Mouse0.54800462
166STAT3_20064451_ChIP-Seq_CD4+T_Mouse0.54523539
167STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.54484000
168* PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.54118631
169PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.54110492
170NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.53440042
171* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.53382451
172STAT1_17558387_ChIP-Seq_HELA_Human0.53106922
173* GATA1_19941826_ChIP-Seq_K562_Human0.52816115
174E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.52290753
175ERG_20517297_ChIP-Seq_VCAP_Human0.52218798
176* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.51821544
177RUNX1_22412390_ChIP-Seq_EML_Mouse0.51429024

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.53368587
2MP0005360_urolithiasis6.30123736
3MP0005365_abnormal_bile_salt5.61285314
4MP0005085_abnormal_gallbladder_physiolo5.50649912
5MP0008875_abnormal_xenobiotic_pharmacok4.58707780
6MP0003806_abnormal_nucleotide_metabolis3.79572313
7MP0003252_abnormal_bile_duct3.37902058
8MP0010329_abnormal_lipoprotein_level3.20188226
9MP0009840_abnormal_foam_cell3.16009908
10MP0004233_abnormal_muscle_weight3.13213090
11MP0005257_abnormal_intraocular_pressure3.00947367
12MP0005083_abnormal_biliary_tract2.77733882
13MP0002877_abnormal_melanocyte_morpholog2.67226226
14MP0002837_dystrophic_cardiac_calcinosis2.64720812
15MP0010234_abnormal_vibrissa_follicle2.61548888
16MP0003195_calcinosis2.59559524
17MP0003191_abnormal_cellular_cholesterol2.58378985
18MP0005171_absent_coat_pigmentation2.55794038
19MP0005332_abnormal_amino_acid2.39384385
20MP0001666_abnormal_nutrient_absorption2.38551977
21MP0000751_myopathy2.29491973
22MP0000749_muscle_degeneration2.26220340
23MP0002138_abnormal_hepatobiliary_system2.25043093
24MP0000015_abnormal_ear_pigmentation2.17553522
25MP0003136_yellow_coat_color2.13618547
26MP0004510_myositis2.12290215
27MP0002090_abnormal_vision2.06220451
28MP0000609_abnormal_liver_physiology2.05370137
29MP0000013_abnormal_adipose_tissue1.99157372
30MP0002118_abnormal_lipid_homeostasis1.92733427
31MP0003646_muscle_fatigue1.89926366
32MP0003868_abnormal_feces_composition1.86267018
33MP0000747_muscle_weakness1.80092914
34MP0001764_abnormal_homeostasis1.79109824
35MP0004019_abnormal_vitamin_homeostasis1.78069489
36MP0005319_abnormal_enzyme/_coenzyme1.75530182
37MP0001661_extended_life_span1.66576306
38MP0005451_abnormal_body_composition1.64678377
39MP0003656_abnormal_erythrocyte_physiolo1.63911683
40MP0003186_abnormal_redox_activity1.63640183
41MP0002269_muscular_atrophy1.62449240
42MP0003950_abnormal_plasma_membrane1.55860142
43MP0005330_cardiomyopathy1.55398838
44MP0003724_increased_susceptibility_to1.54237668
45MP0009697_abnormal_copulation1.52450550
46MP0005584_abnormal_enzyme/coenzyme_acti1.52230618
47MP0002332_abnormal_exercise_endurance1.46819126
48MP0003879_abnormal_hair_cell1.41248062
49MP0006054_spinal_hemorrhage1.40997616
50MP0000003_abnormal_adipose_tissue1.40193378
51MP0005408_hypopigmentation1.39254095
52MP0000343_altered_response_to1.39194488
53MP0003011_delayed_dark_adaptation1.38180843
54MP0003329_amyloid_beta_deposits1.37622546
55MP0008469_abnormal_protein_level1.35817006
56MP0002909_abnormal_adrenal_gland1.33677547
57MP0005379_endocrine/exocrine_gland_phen1.33461553
58MP0009764_decreased_sensitivity_to1.32905851
59MP0003436_decreased_susceptibility_to1.31253134
60MP0001835_abnormal_antigen_presentation1.30635376
61MP0005165_increased_susceptibility_to1.30607835
62MP0003453_abnormal_keratinocyte_physiol1.27774962
63MP0009643_abnormal_urine_homeostasis1.26596353
64MP0005464_abnormal_platelet_physiology1.24274602
65MP0004272_abnormal_basement_membrane1.23819902
66MP0004036_abnormal_muscle_relaxation1.21639491
67MP0009763_increased_sensitivity_to1.18726418
68MP0005058_abnormal_lysosome_morphology1.17320916
69MP0000358_abnormal_cell_content/1.15910327
70MP0004381_abnormal_hair_follicle1.15775271
71MP0006082_CNS_inflammation1.15393143
72MP0000598_abnormal_liver_morphology1.15002606
73MP0002075_abnormal_coat/hair_pigmentati1.14701408
74MP0009785_altered_susceptibility_to1.14542607
75MP0003634_abnormal_glial_cell1.14509553
76MP0001324_abnormal_eye_pigmentation1.12822017
77MP0000604_amyloidosis1.11271894
78MP0001542_abnormal_bone_strength1.10571886
79MP0000759_abnormal_skeletal_muscle1.08809583
80MP0006035_abnormal_mitochondrial_morpho1.03391612
81MP0005636_abnormal_mineral_homeostasis1.02267989
82MP0005025_abnormal_response_to1.02169372
83MP0010386_abnormal_urinary_bladder1.01713121
84MP0005197_abnormal_uvea_morphology1.01593790
85MP0005647_abnormal_sex_gland0.99562600
86MP0001186_pigmentation_phenotype0.99470838
87MP0008438_abnormal_cutaneous_collagen0.98220356
88MP0004087_abnormal_muscle_fiber0.97531384
89MP0002419_abnormal_innate_immunity0.97094846
90MP0000750_abnormal_muscle_regeneration0.96584654
91MP0005075_abnormal_melanosome_morpholog0.95381164
92MP0004270_analgesia0.95152061
93MP0010030_abnormal_orbit_morphology0.94915888
94MP0002876_abnormal_thyroid_physiology0.94333200
95MP0009642_abnormal_blood_homeostasis0.93310555
96MP0002972_abnormal_cardiac_muscle0.91426683
97MP0006036_abnormal_mitochondrial_physio0.90975909
98MP0009765_abnormal_xenobiotic_induced0.90333296
99MP0001790_abnormal_immune_system0.89422722
100MP0005387_immune_system_phenotype0.89422722
101MP0005375_adipose_tissue_phenotype0.88016294
102MP0000685_abnormal_immune_system0.87447683
103MP0001845_abnormal_inflammatory_respons0.86910242
104MP0001800_abnormal_humoral_immune0.86485504
105MP0005248_abnormal_Harderian_gland0.85453575
106MP0003718_maternal_effect0.84201509
107MP0000372_irregular_coat_pigmentation0.83615126
108MP0005084_abnormal_gallbladder_morpholo0.83444656
109MP0005671_abnormal_response_to0.82682541
110MP0003941_abnormal_skin_development0.82673938
111MP0005220_abnormal_exocrine_pancreas0.81537592
112MP0002132_abnormal_respiratory_system0.81096620
113MP0005620_abnormal_muscle_contractility0.79413550
114MP0002078_abnormal_glucose_homeostasis0.76897701
115MP0002106_abnormal_muscle_physiology0.76885922
116MP0000733_abnormal_muscle_development0.76807304
117MP0005334_abnormal_fat_pad0.76793201
118MP0004782_abnormal_surfactant_physiolog0.76668676
119MP0005000_abnormal_immune_tolerance0.76535162
120MP0001853_heart_inflammation0.75841866
121MP0004147_increased_porphyrin_level0.75476678
122MP0005670_abnormal_white_adipose0.75314170
123MP0000920_abnormal_myelination0.75158931
124MP0005376_homeostasis/metabolism_phenot0.75014027
125MP0002723_abnormal_immune_serum0.74359793
126MP0001727_abnormal_embryo_implantation0.73208824
127MP0005535_abnormal_body_temperature0.72280156
128MP0003137_abnormal_impulse_conducting0.69963652
129MP0002971_abnormal_brown_adipose0.68118429
130MP0002896_abnormal_bone_mineralization0.66369709
131MP0002148_abnormal_hypersensitivity_rea0.64556887
132MP0003303_peritoneal_inflammation0.64126237
133MP0002452_abnormal_antigen_presenting0.63408982
134MP0002998_abnormal_bone_remodeling0.62297749
135MP0005167_abnormal_blood-brain_barrier0.60683303
136MP0002693_abnormal_pancreas_physiology0.60307925
137MP0010368_abnormal_lymphatic_system0.60136020
138MP0002254_reproductive_system_inflammat0.58701698
139MP0003690_abnormal_glial_cell0.58236748
140MP0001756_abnormal_urination0.57724722
141MP0003123_paternal_imprinting0.56926783
142MP0001849_ear_inflammation0.56746394
143MP0002229_neurodegeneration0.56639607
144MP0002136_abnormal_kidney_physiology0.55470145
145MP0009379_abnormal_foot_pigmentation0.55308224
146MP0010155_abnormal_intestine_physiology0.53542767
147MP0008260_abnormal_autophagy0.53009488
148MP0002420_abnormal_adaptive_immunity0.52124309
149MP0002095_abnormal_skin_pigmentation0.51881530
150MP0001819_abnormal_immune_cell0.51609248
151MP0002928_abnormal_bile_duct0.51414938
152MP0002166_altered_tumor_susceptibility0.50471728
153MP0004947_skin_inflammation0.50327942
154MP0005448_abnormal_energy_balance0.50175315
155MP0008873_increased_physiological_sensi0.49650439
156MP0005166_decreased_susceptibility_to0.49596176
157MP0000689_abnormal_spleen_morphology0.49595565
158MP0000639_abnormal_adrenal_gland0.49442112
159MP0001533_abnormal_skeleton_physiology0.49371618
160MP0003638_abnormal_response/metabolism_0.48963099
161MP0008874_decreased_physiological_sensi0.47785101
162MP0005266_abnormal_metabolism0.47667595
163MP0003075_altered_response_to0.47401985
164MP0000371_diluted_coat_color0.47052422
165MP0001984_abnormal_olfaction0.46998877
166MP0000249_abnormal_blood_vessel0.45313689
167MP0004130_abnormal_muscle_cell0.45022227
168MP0003172_abnormal_lysosome_physiology0.45019512

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)6.93413687
2Abnormality of liposaccharide metabolism (HP:0010968)6.78310452
3Abnormality of glycosphingolipid metabolism (HP:0004343)6.78310452
4Abnormality of glycolipid metabolism (HP:0010969)6.78310452
5Intrahepatic cholestasis (HP:0001406)6.26919387
6Prolonged partial thromboplastin time (HP:0003645)6.21845768
7Deep venous thrombosis (HP:0002625)6.13417390
8Abnormality of monocarboxylic acid metabolism (HP:0010996)5.91042775
9Xanthomatosis (HP:0000991)5.50714998
10Hypobetalipoproteinemia (HP:0003563)5.41459520
11Hyperlipoproteinemia (HP:0010980)5.08013742
12Joint hemorrhage (HP:0005261)4.96750557
13Complement deficiency (HP:0004431)4.63275230
14Loss of speech (HP:0002371)4.42713040
15Abnormality of the common coagulation pathway (HP:0010990)4.06955234
16Hypolipoproteinemia (HP:0010981)4.00758644
17Hyperammonemia (HP:0001987)3.95125901
18Abnormality of methionine metabolism (HP:0010901)3.86161259
19Fat malabsorption (HP:0002630)3.84437136
20Dysostosis multiplex (HP:0000943)3.80360781
21Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.78993411
22Increased cerebral lipofuscin (HP:0011813)3.78111081
23Epidermoid cyst (HP:0200040)3.74378798
24Hypokinesia (HP:0002375)3.72803925
25Ketosis (HP:0001946)3.62622627
26Abnormality of glutamine family amino acid metabolism (HP:0010902)3.62286782
27Hyperglycinemia (HP:0002154)3.62208299
28Abnormality of sulfur amino acid metabolism (HP:0004339)3.61742071
29Abnormality of aspartate family amino acid metabolism (HP:0010899)3.55949425
30Abnormality of the intrinsic pathway (HP:0010989)3.55423172
31Conjugated hyperbilirubinemia (HP:0002908)3.55293962
32Abnormality of pyrimidine metabolism (HP:0004353)3.50648714
33Hypoalphalipoproteinemia (HP:0003233)3.49159107
34Abnormality of complement system (HP:0005339)3.44629881
35Hypercholesterolemia (HP:0003124)3.36394986
36Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.34866919
37Hyperglycinuria (HP:0003108)3.32191928
38Abnormality of mucopolysaccharide metabolism (HP:0011020)3.29999928
39Abnormality of polysaccharide metabolism (HP:0011012)3.29999928
40Abnormality of glycosaminoglycan metabolism (HP:0004371)3.29999928
41Hypoglycemic coma (HP:0001325)3.21993932
42Hyperbilirubinemia (HP:0002904)3.20801042
43Progressive neurologic deterioration (HP:0002344)3.20715939
44Abnormality of fatty-acid metabolism (HP:0004359)3.19013779
45Vertebral compression fractures (HP:0002953)3.18345536
46Abnormality of glycine metabolism (HP:0010895)3.17770048
47Abnormality of serine family amino acid metabolism (HP:0010894)3.17770048
48Increased neuronal autofluorescent lipopigment (HP:0002074)3.17377781
49Recurrent gram-negative bacterial infections (HP:0005420)3.13922804
50Steatorrhea (HP:0002570)3.10616337
51Nuclear cataract (HP:0100018)3.09785786
52Exercise-induced myalgia (HP:0003738)3.06105849
53Mucopolysacchariduria (HP:0008155)3.04699332
54Urinary glycosaminoglycan excretion (HP:0003541)3.04699332
55Myocardial infarction (HP:0001658)3.02606241
56Zonular cataract (HP:0010920)3.02413657
57Systemic lupus erythematosus (HP:0002725)3.00705689
58Hypoplasia of the fovea (HP:0007750)2.97031810
59Aplasia/Hypoplasia of the fovea (HP:0008060)2.97031810
60Aplasia/Hypoplasia of the macula (HP:0008059)2.93305247
61Asymmetric septal hypertrophy (HP:0001670)2.83189832
62J-shaped sella turcica (HP:0002680)2.82977511
63Ocular albinism (HP:0001107)2.74087856
64Hepatocellular carcinoma (HP:0001402)2.70922277
65Aplasia/Hypoplasia affecting the retina (HP:0008061)2.70825985
66Abnormality of nucleobase metabolism (HP:0010932)2.70411543
67Gingival bleeding (HP:0000225)2.64977060
68Abnormality of serum amino acid levels (HP:0003112)2.61496050
69Menorrhagia (HP:0000132)2.57702119
70Ragged-red muscle fibers (HP:0003200)2.55479166
71Delayed CNS myelination (HP:0002188)2.51539674
72Ketoacidosis (HP:0001993)2.50277353
73Metabolic acidosis (HP:0001942)2.49372172
74Axonal loss (HP:0003447)2.48691934
75Lethargy (HP:0001254)2.46908642
76Glomerulonephritis (HP:0000099)2.46831876
77Cerebral edema (HP:0002181)2.45395824
78Spontaneous abortion (HP:0005268)2.44376793
79Iris hypopigmentation (HP:0007730)2.42252125
80Nemaline bodies (HP:0003798)2.40884401
81Dicarboxylic aciduria (HP:0003215)2.39688362
82Abnormality of dicarboxylic acid metabolism (HP:0010995)2.39688362
83Vascular calcification (HP:0004934)2.38509568
84Pancreatitis (HP:0001733)2.37139368
85Tongue fasciculations (HP:0001308)2.36542034
86Diminished movement (HP:0002374)2.36356350
87Mutism (HP:0002300)2.34351721
88Apathy (HP:0000741)2.34237769
89Prolonged neonatal jaundice (HP:0006579)2.33210741
90Distal arthrogryposis (HP:0005684)2.32748466
91Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.30993771
92Abnormality of purine metabolism (HP:0004352)2.30292958
93Muscle fiber inclusion bodies (HP:0100299)2.30145574
94Neurofibrillary tangles (HP:0002185)2.27839299
95Mitral stenosis (HP:0001718)2.27031401
96Ulnar deviation of the wrist (HP:0003049)2.26774849
97Abnormality of the fovea (HP:0000493)2.26744505
98Late onset (HP:0003584)2.25843792
99Reduced antithrombin III activity (HP:0001976)2.24176232
100Vacuolated lymphocytes (HP:0001922)2.23448490
101Acanthocytosis (HP:0001927)2.22508208
102Skin nodule (HP:0200036)2.21285377
103Generalized aminoaciduria (HP:0002909)2.20729486
104Opisthotonus (HP:0002179)2.17884223
105Trismus (HP:0000211)2.15920338
106Abnormality of iron homeostasis (HP:0011031)2.15832155
107Epistaxis (HP:0000421)2.14633300
108Hypochromic microcytic anemia (HP:0004840)2.14376784
109Diminished motivation (HP:0000745)2.13437476
110Round ear (HP:0100830)2.12407380
111Thrombophlebitis (HP:0004418)2.12018243
112Bulbar palsy (HP:0001283)2.11913496
113Brushfield spots (HP:0001088)2.11032190
114Cardiomegaly (HP:0001640)2.10583799
115Distal lower limb muscle weakness (HP:0009053)2.09180866
116Abnormal gallbladder morphology (HP:0012437)2.09078500
117Abnormal gallbladder physiology (HP:0012438)2.07487713
118Cholecystitis (HP:0001082)2.07487713
119Elevated hepatic transaminases (HP:0002910)2.06997776
120Abnormality of the Achilles tendon (HP:0005109)2.06915944
121Abnormality of transition element cation homeostasis (HP:0011030)2.06225512
122Upper motor neuron abnormality (HP:0002127)2.05519886
123Renal cortical cysts (HP:0000803)2.04712990
124Cerebral inclusion bodies (HP:0100314)2.04592303
125Achilles tendon contracture (HP:0001771)2.03781420
126Pulmonary embolism (HP:0002204)2.03506167
127Muscle fibrillation (HP:0010546)2.02649447
128Neonatal onset (HP:0003623)2.02566173
129Cardiovascular calcification (HP:0011915)2.01937640
130Vomiting (HP:0002013)2.00501510
131Irritability (HP:0000737)2.00365573
132Hypoglycemic seizures (HP:0002173)2.00326353
133Exercise-induced muscle cramps (HP:0003710)1.99975537
134Patchy hypopigmentation of hair (HP:0011365)1.99636309
135Myopathic facies (HP:0002058)1.98670182
136Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.98140873
137Sensorimotor neuropathy (HP:0007141)1.97493512
138White forelock (HP:0002211)1.96136484
139Generalized hypopigmentation (HP:0007513)1.95969692
140Cholelithiasis (HP:0001081)1.95621562
141Neuronal loss in central nervous system (HP:0002529)1.93975533
142Metaphyseal irregularity (HP:0003025)1.93317421
143Malnutrition (HP:0004395)1.93302631
144Short nail (HP:0001799)1.93112662
145Myoglobinuria (HP:0002913)1.91974392
146Rhabdomyolysis (HP:0003201)1.91206837
147Spastic diplegia (HP:0001264)1.91103331
148Increased serum ferritin (HP:0003281)1.89925423
149Esophageal varix (HP:0002040)1.89294984
150Poikilocytosis (HP:0004447)1.88902615
151Progressive muscle weakness (HP:0003323)1.88673336
152Purpura (HP:0000979)1.88649403
153Hemorrhage of the eye (HP:0011885)1.88059445
154Increased connective tissue (HP:0009025)1.86731593
155Stridor (HP:0010307)1.84806183
156Akinesia (HP:0002304)1.84428527
157EMG: myopathic abnormalities (HP:0003458)1.83442873
158Joint swelling (HP:0001386)1.83023858
159Mesangial abnormality (HP:0001966)1.82052316
160Hand muscle atrophy (HP:0009130)1.81564752
161Microcytic anemia (HP:0001935)1.80969437
162Esophageal neoplasm (HP:0100751)1.79808062
163Neoplasm of head and neck (HP:0012288)1.79808062
164Alkalosis (HP:0001948)1.78529891
165Beaking of vertebral bodies (HP:0004568)1.77126977
166Distal upper limb amyotrophy (HP:0007149)1.76797900
167Upper limb amyotrophy (HP:0009129)1.76797900
168Frequent falls (HP:0002359)1.76094056
169Centrally nucleated skeletal muscle fibers (HP:0003687)1.75937284
170Hypertriglyceridemia (HP:0002155)1.75812963
171Abnormality of urine glucose concentration (HP:0011016)1.74825916
172Glycosuria (HP:0003076)1.74825916
173Abnormality of the gallbladder (HP:0005264)1.74793997
174Nephritis (HP:0000123)1.73232024
175Increased CSF protein (HP:0002922)1.72721766
176Enlarged kidneys (HP:0000105)1.72623030
177Abnormality of the distal phalanges of the toes (HP:0010182)1.72351482
178* Amyloidosis (HP:0011034)1.71778263
179Disinhibition (HP:0000734)1.69919299
180Cervical subluxation (HP:0003308)1.69845667
181* Dementia (HP:0000726)1.69749227
182Generalized amyotrophy (HP:0003700)1.69460806
183Interstitial pulmonary disease (HP:0006530)1.68013153

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK4.95931292
2TAOK33.36260923
3FGFR43.33924237
4ERN13.33482356
5LIMK12.93443831
6PDK22.88519415
7PHKG22.68162096
8PHKG12.68162096
9MAP4K12.59995633
10TESK12.56922832
11TYK22.55656308
12SIK12.48904123
13IRAK32.33867575
14MAP3K142.24151868
15TBK12.21479920
16TAOK22.11432453
17IKBKE1.97948898
18MST1R1.92678952
19TXK1.86875938
20EPHA21.85096270
21INSRR1.82938318
22KDR1.81944838
23MOS1.74400452
24OBSCN1.73669366
25DDR21.72548362
26PAK41.71266291
27MUSK1.67455309
28TESK21.64873060
29ZAP701.64473913
30MAP3K121.63252608
31KIT1.62957944
32FLT31.62799579
33TTN1.62345568
34BLK1.62178980
35JAK11.56850260
36NME21.56275065
37ERBB41.54423768
38IRAK41.51153352
39MAPK111.50021950
40MAP3K91.46324357
41MAPK151.44400884
42PIK3CG1.38412769
43TGFBR21.38142597
44MAP2K31.37905749
45ICK1.36431375
46LMTK21.35313319
47TAOK11.34900252
48JAK31.33831267
49NLK1.31163028
50NEK91.30175823
51IKBKB1.29236332
52MET1.28769646
53JAK21.26532186
54STK161.25245489
55NEK11.22648340
56GRK61.17527825
57ABL21.16436805
58TEC1.16101152
59EIF2AK11.12315239
60SYK1.11336269
61BTK1.11150069
62EPHA31.09396642
63CAMK1D1.07841670
64MAP2K41.03486242
65MAP2K61.02883939
66CSK1.02487769
67MATK1.01461863
68CSF1R1.01112369
69IRAK10.99410804
70PTK20.99111710
71CDC42BPA0.96832940
72MAPK40.96825606
73TIE10.94164256
74PIM20.92921521
75TRIM280.89817517
76BRAF0.89700829
77PKN20.89559000
78MAP4K20.89470340
79TRIB30.85909509
80LYN0.84556059
81MAP3K110.83831759
82PINK10.83052381
83AKT20.82486532
84DAPK20.81275139
85PRKCI0.80598401
86PRKAA20.79654972
87FRK0.79474367
88MAP3K130.78698415
89FER0.77750715
90TNK20.76222347
91GRK10.75549725
92PRKCQ0.75057036
93* CSNK1G30.74676051
94MST40.74676005
95LCK0.74019124
96* CSNK1G10.72422253
97MAP3K50.71674048
98TSSK60.68038644
99ITK0.67729382
100NME10.67317072
101SRPK10.66990016
102EPHB10.66782334
103PIM10.65163252
104CAMK2D0.64755842
105BUB10.64582134
106SCYL20.64205898
107DAPK30.63792825
108MAPKAPK30.63677449
109DAPK10.63567583
110MAPK120.62331470
111TTK0.61980279
112CHUK0.61250665
113PBK0.59486431
114BMPR20.58898668
115IRAK20.57664259
116HCK0.56389281
117PTK60.56232785
118CASK0.55223228
119EEF2K0.54937588
120MAP3K60.54774824
121GRK70.54678913
122MAP2K20.54201256
123MAP3K10.54199770
124EPHA40.54093917
125MAP3K30.52889247
126MAPKAPK50.52573414
127FGFR30.52360783
128TRPM70.51995678
129CAMK1G0.51901995
130STK380.51876649
131CAMK2G0.51201207
132PRKD20.50089139
133PDPK10.48987777
134AURKA0.48661440
135ARAF0.47629029
136EIF2AK30.45814178
137GSK3A0.45766150
138ABL10.44897958
139PAK10.44474612
140NEK60.43076549
141PRKACG0.42671961
142PRKD30.42096343
143MAP3K70.40606193
144FGR0.40578770
145MTOR0.40067841
146FES0.40041305
147DYRK1B0.39491811
148HIPK20.38390111
149IGF1R0.38231297
150RIPK10.38106129
151MAPK30.37914145
152PRKG20.37063496
153ADRBK20.36905268
154PRKCZ0.36782347
155MAP3K80.36370797
156PRKCD0.35279324
157MARK30.35239116
158CDK90.34927879
159RPS6KA20.34809070
160* CSNK1G20.33835210
161MAP3K100.33272254
162MAP3K20.30509866
163MYLK0.27312562
164ACVR1B0.26508174

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.52180341
2Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.38955893
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.87797638
4Nitrogen metabolism_Homo sapiens_hsa009102.86383769
5Complement and coagulation cascades_Homo sapiens_hsa046102.82214570
6Arginine biosynthesis_Homo sapiens_hsa002202.79595070
7Tryptophan metabolism_Homo sapiens_hsa003802.57427593
8Pentose and glucuronate interconversions_Homo sapiens_hsa000402.56155915
9Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.55449338
10Vibrio cholerae infection_Homo sapiens_hsa051102.44573592
11Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.39346724
12Fatty acid degradation_Homo sapiens_hsa000712.32922074
13Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.27285569
14Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.25335066
15Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.24723415
16Peroxisome_Homo sapiens_hsa041462.23267048
17Staphylococcus aureus infection_Homo sapiens_hsa051502.15472832
18Histidine metabolism_Homo sapiens_hsa003402.11871075
19Sphingolipid metabolism_Homo sapiens_hsa006002.05990719
20Chemical carcinogenesis_Homo sapiens_hsa052042.02857948
21Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.02062726
22Collecting duct acid secretion_Homo sapiens_hsa049661.95443068
23Steroid hormone biosynthesis_Homo sapiens_hsa001401.92261940
24Drug metabolism - other enzymes_Homo sapiens_hsa009831.87953830
25Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.87786100
26Caffeine metabolism_Homo sapiens_hsa002321.87653550
27Butanoate metabolism_Homo sapiens_hsa006501.79062688
28Propanoate metabolism_Homo sapiens_hsa006401.77512273
29PPAR signaling pathway_Homo sapiens_hsa033201.76450473
30beta-Alanine metabolism_Homo sapiens_hsa004101.73272202
31Retinol metabolism_Homo sapiens_hsa008301.72997631
32Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.72168218
33Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.66618076
34Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.64334089
35Fatty acid metabolism_Homo sapiens_hsa012121.57677321
36Tyrosine metabolism_Homo sapiens_hsa003501.57136982
37Folate biosynthesis_Homo sapiens_hsa007901.51863895
38Phenylalanine metabolism_Homo sapiens_hsa003601.51402412
39N-Glycan biosynthesis_Homo sapiens_hsa005101.51018633
40Selenocompound metabolism_Homo sapiens_hsa004501.49148610
41ABC transporters_Homo sapiens_hsa020101.45478891
42Sulfur metabolism_Homo sapiens_hsa009201.42879496
43Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.40331286
44Fatty acid elongation_Homo sapiens_hsa000621.38176251
45Steroid biosynthesis_Homo sapiens_hsa001001.35821704
46Starch and sucrose metabolism_Homo sapiens_hsa005001.35585097
47Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.33222605
48Proteasome_Homo sapiens_hsa030501.32284011
49Sulfur relay system_Homo sapiens_hsa041221.32249830
50Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.30853212
51Oxidative phosphorylation_Homo sapiens_hsa001901.27749227
52Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.25723589
53Bile secretion_Homo sapiens_hsa049761.25574997
54Maturity onset diabetes of the young_Homo sapiens_hsa049501.20262873
55Cysteine and methionine metabolism_Homo sapiens_hsa002701.20150156
56Pyruvate metabolism_Homo sapiens_hsa006201.17562833
57Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.16078875
58Fat digestion and absorption_Homo sapiens_hsa049751.10652221
59Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.08565578
60Synaptic vesicle cycle_Homo sapiens_hsa047211.03721461
61Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.01183796
62Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.98824960
632-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.97563510
64Arginine and proline metabolism_Homo sapiens_hsa003300.91902738
65Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.91136227
66Vitamin digestion and absorption_Homo sapiens_hsa049770.87482551
67Biosynthesis of amino acids_Homo sapiens_hsa012300.85563231
68Rheumatoid arthritis_Homo sapiens_hsa053230.84046634
69Carbon metabolism_Homo sapiens_hsa012000.81221238
70Renin-angiotensin system_Homo sapiens_hsa046140.76676379
71Cyanoamino acid metabolism_Homo sapiens_hsa004600.73319884
72One carbon pool by folate_Homo sapiens_hsa006700.71730904
73Parkinsons disease_Homo sapiens_hsa050120.70665428
74Glycerolipid metabolism_Homo sapiens_hsa005610.67943085
75Glutathione metabolism_Homo sapiens_hsa004800.66511543
76Mineral absorption_Homo sapiens_hsa049780.64473886
77Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.62713920
78Vitamin B6 metabolism_Homo sapiens_hsa007500.62051219
79Alzheimers disease_Homo sapiens_hsa050100.58887241
80Metabolic pathways_Homo sapiens_hsa011000.54516681
81Pentose phosphate pathway_Homo sapiens_hsa000300.54364119
82Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.51179852
83Lysine degradation_Homo sapiens_hsa003100.50155026
84Phagosome_Homo sapiens_hsa041450.49443856
85Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.49411567
86Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.47357317
87Huntingtons disease_Homo sapiens_hsa050160.43273729
88Bladder cancer_Homo sapiens_hsa052190.41908632
89Circadian rhythm_Homo sapiens_hsa047100.40270358
90Ovarian steroidogenesis_Homo sapiens_hsa049130.39424086
91Salmonella infection_Homo sapiens_hsa051320.38387330
92Glucagon signaling pathway_Homo sapiens_hsa049220.37768657
93Glycosaminoglycan degradation_Homo sapiens_hsa005310.36554811
94Galactose metabolism_Homo sapiens_hsa000520.35525068
95alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.34709059
96Prion diseases_Homo sapiens_hsa050200.34574338
97Cardiac muscle contraction_Homo sapiens_hsa042600.34500307
98Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.34293892
99Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.34051566
100Legionellosis_Homo sapiens_hsa051340.33613734
101Linoleic acid metabolism_Homo sapiens_hsa005910.32577158
102Other glycan degradation_Homo sapiens_hsa005110.32401399
103Fatty acid biosynthesis_Homo sapiens_hsa000610.31327341
104Insulin signaling pathway_Homo sapiens_hsa049100.30601899
105Pyrimidine metabolism_Homo sapiens_hsa002400.28975661
106Protein export_Homo sapiens_hsa030600.28323580
107Dilated cardiomyopathy_Homo sapiens_hsa054140.27794807
108SNARE interactions in vesicular transport_Homo sapiens_hsa041300.26638162
109Central carbon metabolism in cancer_Homo sapiens_hsa052300.25922526
110Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.24478713
111RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.24224257
112Adipocytokine signaling pathway_Homo sapiens_hsa049200.23116571
113Primary immunodeficiency_Homo sapiens_hsa053400.22205390
114Intestinal immune network for IgA production_Homo sapiens_hsa046720.21282397
115Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.18199624
116Tight junction_Homo sapiens_hsa045300.16234947
117Insulin resistance_Homo sapiens_hsa049310.14641286
118Lysosome_Homo sapiens_hsa041420.13963939
119Glycerophospholipid metabolism_Homo sapiens_hsa005640.12635899
120Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.12622886
121Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.11914555
122NF-kappa B signaling pathway_Homo sapiens_hsa040640.10499244
123Fructose and mannose metabolism_Homo sapiens_hsa000510.10059455
124Pertussis_Homo sapiens_hsa051330.07559790
125Malaria_Homo sapiens_hsa051440.06862827
126Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.06436808
127Regulation of autophagy_Homo sapiens_hsa041400.06199177
128Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.05970555
129Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.05686981
130Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.04441501
131Hepatitis C_Homo sapiens_hsa051600.04221169
132Arachidonic acid metabolism_Homo sapiens_hsa005900.03405031
133Leishmaniasis_Homo sapiens_hsa051400.02285711
134Toll-like receptor signaling pathway_Homo sapiens_hsa046200.02185445
135Measles_Homo sapiens_hsa05162-0.0168423
136Cytokine-cytokine receptor interaction_Homo sapiens_hsa04060-0.0162478
137African trypanosomiasis_Homo sapiens_hsa05143-0.0144676

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