ESD

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a serine hydrolase that belongs to the esterase D family. The encoded enzyme is active toward numerous substrates including O-acetylated sialic acids, and it may be involved in the recycling of sialic acids. This gene is used as a genetic marker for retinoblastoma and Wilson's disease. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.71543666
2energy coupled proton transport, down electrochemical gradient (GO:0015985)5.03137131
3ATP synthesis coupled proton transport (GO:0015986)5.03137131
4neutrophil activation involved in immune response (GO:0002283)4.94187147
5hydrogen peroxide biosynthetic process (GO:0050665)4.73536750
6proteasome assembly (GO:0043248)4.55537935
7oxidative phosphorylation (GO:0006119)4.50177367
8cullin deneddylation (GO:0010388)4.43596630
9reactive oxygen species biosynthetic process (GO:1903409)4.15695824
10positive regulation of chemokine biosynthetic process (GO:0045080)4.05690694
11ribosomal large subunit biogenesis (GO:0042273)4.03011478
12antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.00077676
13protein deneddylation (GO:0000338)3.98156370
14mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.93432526
15positive regulation of interferon-alpha production (GO:0032727)3.92419883
16positive regulation of heterotypic cell-cell adhesion (GO:0034116)3.91971524
17establishment of protein localization to mitochondrial membrane (GO:0090151)3.87989551
18protein complex biogenesis (GO:0070271)3.83268180
19respiratory electron transport chain (GO:0022904)3.80546794
20low-density lipoprotein particle clearance (GO:0034383)3.74519148
21response to peptidoglycan (GO:0032494)3.73010977
22respiratory burst (GO:0045730)3.72870476
23ribosomal small subunit assembly (GO:0000028)3.72235295
24electron transport chain (GO:0022900)3.70816111
25regulation of interferon-alpha production (GO:0032647)3.69367582
26modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.67075577
27positive regulation by organism of defense response of other organism involved in symbiotic interact3.67075577
28modulation by symbiont of host immune response (GO:0052553)3.67075577
29positive regulation by symbiont of host defense response (GO:0052509)3.67075577
30modulation by symbiont of host defense response (GO:0052031)3.67075577
31modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.67075577
32protein neddylation (GO:0045116)3.65570151
33CENP-A containing nucleosome assembly (GO:0034080)3.65315231
34mitochondrial respiratory chain complex assembly (GO:0033108)3.64179549
35mitochondrial respiratory chain complex I assembly (GO:0032981)3.60009458
36NADH dehydrogenase complex assembly (GO:0010257)3.60009458
37mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.60009458
38chromatin remodeling at centromere (GO:0031055)3.56412603
39SRP-dependent cotranslational protein targeting to membrane (GO:0006614)3.55709883
40cotranslational protein targeting to membrane (GO:0006613)3.53358079
41superoxide anion generation (GO:0042554)3.51402366
42positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.51320658
43organelle disassembly (GO:1903008)3.48015988
44natural killer cell mediated cytotoxicity (GO:0042267)3.46367457
45natural killer cell mediated immunity (GO:0002228)3.46367457
46nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.45578673
47DNA ligation (GO:0006266)3.43380763
48protein targeting to ER (GO:0045047)3.42138824
49exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.37821084
50respiratory chain complex IV assembly (GO:0008535)3.33428002
51* aldehyde catabolic process (GO:0046185)3.33420415
52protein localization to endoplasmic reticulum (GO:0070972)3.32582580
53establishment of protein localization to endoplasmic reticulum (GO:0072599)3.31873622
54establishment of integrated proviral latency (GO:0075713)3.30147950
55regulation of chemokine biosynthetic process (GO:0045073)3.26844130
56negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.26481091
57regulation of mononuclear cell migration (GO:0071675)3.26120209
58intraciliary transport (GO:0042073)3.25198521
59positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.19470980
60ribonucleoprotein complex disassembly (GO:0032988)3.19276242
61production of molecular mediator involved in inflammatory response (GO:0002532)3.17730247
62translational termination (GO:0006415)3.17582831
63chaperone-mediated protein transport (GO:0072321)3.15844774
64regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.13807567
65viral transcription (GO:0019083)3.12380033
66positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.12071538
67purine nucleobase biosynthetic process (GO:0009113)3.10568802
68regulation of heterotypic cell-cell adhesion (GO:0034114)3.09891534
69branched-chain amino acid catabolic process (GO:0009083)3.09350260
70immunoglobulin mediated immune response (GO:0016064)3.09287411
71plasma lipoprotein particle clearance (GO:0034381)3.05675085
72wound healing, spreading of epidermal cells (GO:0035313)3.05417852
73lipopolysaccharide-mediated signaling pathway (GO:0031663)3.05389086
74granulocyte activation (GO:0036230)3.04032372
75translation (GO:0006412)3.02930020
76formation of translation preinitiation complex (GO:0001731)3.00448559
77cysteine metabolic process (GO:0006534)2.99352693
78purine nucleoside triphosphate biosynthetic process (GO:0009145)2.99166137
79myeloid cell homeostasis (GO:0002262)2.98714364
80regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.98654213
81cytochrome complex assembly (GO:0017004)2.98552474
82negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.97656716
83cofactor catabolic process (GO:0051187)2.97329953
84anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.96356203
85aerobic respiration (GO:0009060)2.95070509
86positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.94907869
87hydrogen peroxide metabolic process (GO:0042743)2.94283434
88cellular response to interferon-alpha (GO:0035457)2.94163617
89negative regulation of myeloid cell apoptotic process (GO:0033033)2.92845463
90ATP biosynthetic process (GO:0006754)2.91612397
91glucuronate metabolic process (GO:0019585)2.90624314
92uronic acid metabolic process (GO:0006063)2.90624314
93purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.90480637
94regulation of cellular amino acid metabolic process (GO:0006521)2.88263284
95negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.87859426
96negative regulation of ligase activity (GO:0051352)2.87859426
97regulation of mitochondrial translation (GO:0070129)2.87351052
98GTP biosynthetic process (GO:0006183)2.86896730
99DNA double-strand break processing (GO:0000729)2.86338861
100translational initiation (GO:0006413)2.86144885
101regulation of interferon-beta biosynthetic process (GO:0045357)2.84902375
102peptidyl-glutamic acid carboxylation (GO:0017187)2.84630158
103protein carboxylation (GO:0018214)2.84630158
104RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.83350573
105tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.83350573
106eosinophil chemotaxis (GO:0048245)2.82714542
107cellular respiration (GO:0045333)2.81521284
108translational elongation (GO:0006414)2.80923000
109water-soluble vitamin biosynthetic process (GO:0042364)2.80690691
110DNA damage response, detection of DNA damage (GO:0042769)2.80010997
111DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.79315690
112histone exchange (GO:0043486)2.78467954
113signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.77975993
114signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.77975993
115signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.77975993
116macrophage activation involved in immune response (GO:0002281)2.76897400
117response to interferon-alpha (GO:0035455)2.76592204
118neutrophil activation (GO:0042119)2.75890789
119L-ascorbic acid metabolic process (GO:0019852)2.75703243
120cellular response to superoxide (GO:0071451)2.75348942
121cellular response to oxygen radical (GO:0071450)2.75348942
122removal of superoxide radicals (GO:0019430)2.75348942
123peptidyl-histidine modification (GO:0018202)2.75254252
124positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.75233988
125platelet dense granule organization (GO:0060155)2.74748952
126DNA replication-independent nucleosome organization (GO:0034724)2.73874560
127DNA replication-independent nucleosome assembly (GO:0006336)2.73874560
128intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.73515709
129signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.73515709
130fibrinolysis (GO:0042730)2.72151186
131lactate metabolic process (GO:0006089)2.72037627
132signal transduction involved in cell cycle checkpoint (GO:0072395)2.69845225
133deoxyribonucleoside triphosphate metabolic process (GO:0009200)2.69713106
134regulation of cholesterol storage (GO:0010885)2.69090954
135kinetochore organization (GO:0051383)2.69071041
136replication fork processing (GO:0031297)2.67548458
137guanosine-containing compound biosynthetic process (GO:1901070)2.66192367
138kinetochore assembly (GO:0051382)2.65961525
139positive regulation of blood coagulation (GO:0030194)2.65593562
140positive regulation of hemostasis (GO:1900048)2.65593562
141signal transduction involved in DNA integrity checkpoint (GO:0072401)2.65043025
142signal transduction involved in DNA damage checkpoint (GO:0072422)2.65043025
143ribonucleoside triphosphate biosynthetic process (GO:0009201)2.64408312
144antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.62954704
145purine ribonucleoside monophosphate biosynthetic process (GO:0009168)2.62413939
146purine nucleoside monophosphate biosynthetic process (GO:0009127)2.62413939
147positive regulation of ligase activity (GO:0051351)2.61663963
148anterograde synaptic vesicle transport (GO:0048490)2.60731079
149protein targeting to mitochondrion (GO:0006626)2.60627325
150pyrimidine nucleoside triphosphate metabolic process (GO:0009147)2.59105278
151hydrogen peroxide catabolic process (GO:0042744)2.58962467
152regulation of membrane protein ectodomain proteolysis (GO:0051043)2.58709554
153resolution of meiotic recombination intermediates (GO:0000712)2.58009938
154positive regulation of coagulation (GO:0050820)2.56895819
155B cell mediated immunity (GO:0019724)2.56850853
156positive regulation of monocyte chemotaxis (GO:0090026)2.56282435
157positive regulation of mitochondrial fission (GO:0090141)2.56068090
158nucleobase biosynthetic process (GO:0046112)2.55492486
159nucleoside triphosphate biosynthetic process (GO:0009142)2.54546387
160positive regulation of heat generation (GO:0031652)2.54535592
161telomere maintenance via semi-conservative replication (GO:0032201)2.54507367
162nucleotide-excision repair, DNA gap filling (GO:0006297)2.53800940
163transcription elongation from RNA polymerase III promoter (GO:0006385)2.53322347
164detection of molecule of bacterial origin (GO:0032490)2.53274626
165response to host immune response (GO:0052572)2.52736352
166response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.52736352
167acute-phase response (GO:0006953)2.50697279
168phagosome maturation (GO:0090382)2.50356365
169eosinophil migration (GO:0072677)2.50323750
170positive regulation of chemokine production (GO:0032722)2.49633393
171cellular glucuronidation (GO:0052695)2.48837597
172positive regulation of interferon-beta production (GO:0032728)2.48783324
173regulation of fever generation (GO:0031620)2.48583520
174erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.47806346
175L-phenylalanine metabolic process (GO:0006558)2.47806346
176positive regulation of nitric oxide biosynthetic process (GO:0045429)2.43943624
177monocyte chemotaxis (GO:0002548)2.43748782
178negative regulation of mast cell activation (GO:0033004)2.43452926
179regulation of vitamin D biosynthetic process (GO:0060556)2.43301098
180Arp2/3 complex-mediated actin nucleation (GO:0034314)2.42438514
181superoxide metabolic process (GO:0006801)2.41554348
182triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.41294548
183negative regulation of viral genome replication (GO:0045071)2.40870945
184positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610812.40867491
185antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.40233145
186aromatic amino acid family catabolic process (GO:0009074)2.39319370
187mitochondrial calcium ion transport (GO:0006851)2.38799959
188L-phenylalanine catabolic process (GO:0006559)2.38733122
189erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.38733122
190glyoxylate metabolic process (GO:0046487)2.38552388
191cell adhesion mediated by integrin (GO:0033627)2.38417568
192response to interferon-beta (GO:0035456)2.38217861
193negative regulation of lipid storage (GO:0010888)2.38123747
194positive regulation of cellular amide metabolic process (GO:0034250)2.34723048
195xenobiotic catabolic process (GO:0042178)2.33386946
196positive regulation of interleukin-6 production (GO:0032755)2.32943531
197indole-containing compound catabolic process (GO:0042436)2.32496291
198indolalkylamine catabolic process (GO:0046218)2.32496291
199tryptophan catabolic process (GO:0006569)2.32496291

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.10527697
2IRF8_21731497_ChIP-ChIP_J774_Mouse5.07010285
3ESR1_17901129_ChIP-ChIP_LIVER_Mouse4.52911633
4BP1_19119308_ChIP-ChIP_Hs578T_Human4.42455496
5EST1_17652178_ChIP-ChIP_JURKAT_Human3.64752755
6E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.58206078
7RXR_22158963_ChIP-Seq_LIVER_Mouse3.21665655
8* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse3.20606679
9EGR1_23403033_ChIP-Seq_LIVER_Mouse3.06730982
10MYC_18555785_ChIP-Seq_MESCs_Mouse3.06442210
11RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human3.04676925
12PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.97147959
13TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.95798767
14TP63_17297297_ChIP-ChIP_HaCaT_Human2.91543981
15* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.89965889
16IRF8_27001747_Chip-Seq_BMDM_Mouse2.89061352
17PPARA_22158963_ChIP-Seq_LIVER_Mouse2.87969867
18E2F4_17652178_ChIP-ChIP_JURKAT_Human2.82918635
19IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.81148460
20E2F7_22180533_ChIP-Seq_HELA_Human2.73425059
21IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.72950580
22* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.71771420
23SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.68815819
24TRIM28_21343339_ChIP-Seq_HEK293_Human2.66980443
25JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.63181912
26CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.54422548
27* RARG_19884340_ChIP-ChIP_MEFs_Mouse2.52472387
28ETS1_20019798_ChIP-Seq_JURKAT_Human2.47235754
29CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.45730587
30LXR_22158963_ChIP-Seq_LIVER_Mouse2.43692017
31VDR_23849224_ChIP-Seq_CD4+_Human2.35235671
32PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.30703173
33MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.30416266
34STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.22713565
35FUS_26573619_Chip-Seq_HEK293_Human2.18403255
36* MYB_21317192_ChIP-Seq_ERMYB_Mouse2.18079131
37POU3F2_20337985_ChIP-ChIP_501MEL_Human2.15002208
38EWS_26573619_Chip-Seq_HEK293_Human2.12014136
39NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.07994274
40SALL1_21062744_ChIP-ChIP_HESCs_Human2.05529169
41FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.05328630
42FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse2.04215352
43ELF1_17652178_ChIP-ChIP_JURKAT_Human1.99844841
44FOXP3_21729870_ChIP-Seq_TREG_Human1.98193400
45IGF1R_20145208_ChIP-Seq_DFB_Human1.97199914
46HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.97067175
47EGR1_19374776_ChIP-ChIP_THP-1_Human1.92262346
48MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.89073216
49CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.87438681
50MYC_18358816_ChIP-ChIP_MESCs_Mouse1.87048972
51TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.86601236
52ZNF274_21170338_ChIP-Seq_K562_Hela1.86159159
53CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.85642153
54RBPJ_22232070_ChIP-Seq_NCS_Mouse1.84877997
55NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.84806557
56SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.84102266
57PADI4_21655091_ChIP-ChIP_MCF-7_Human1.83951420
58MYC_19030024_ChIP-ChIP_MESCs_Mouse1.79205774
59STAT4_19710469_ChIP-ChIP_TH1__Mouse1.75560632
60HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.74941397
61EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.73040791
62PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.71169066
63TTF2_22483619_ChIP-Seq_HELA_Human1.69664891
64CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.68172085
65TAF15_26573619_Chip-Seq_HEK293_Human1.65230286
66* MYC_18940864_ChIP-ChIP_HL60_Human1.63420578
67* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.62173328
68* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.62173328
69FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.60414772
70ZFP57_27257070_Chip-Seq_ESCs_Mouse1.60003012
71NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.57966604
72CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.57258397
73HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.57231895
74YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.57012535
75TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.56606187
76NELFA_20434984_ChIP-Seq_ESCs_Mouse1.55567841
77BRD4_27068464_Chip-Seq_AML-cells_Mouse1.55081298
78CLOCK_20551151_ChIP-Seq_293T_Human1.53688603
79GABP_19822575_ChIP-Seq_HepG2_Human1.51083326
80MYC_19079543_ChIP-ChIP_MESCs_Mouse1.50944912
81SPI1_23547873_ChIP-Seq_NB4_Human1.48867236
82ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.43592407
83CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.42520977
84THAP11_20581084_ChIP-Seq_MESCs_Mouse1.42291237
85* RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.40732679
86FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.38837611
87CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.37827402
88* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.37638998
89SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.37150949
90SOX2_20726797_ChIP-Seq_SW620_Human1.36453624
91FLI1_27457419_Chip-Seq_LIVER_Mouse1.36241656
92IRF1_19129219_ChIP-ChIP_H3396_Human1.34762670
93VDR_22108803_ChIP-Seq_LS180_Human1.34700405
94ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.34291912
95* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.33838040
96POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.32713118
97AR_21909140_ChIP-Seq_LNCAP_Human1.31983076
98P300_19829295_ChIP-Seq_ESCs_Human1.31609585
99STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.27931394
100XRN2_22483619_ChIP-Seq_HELA_Human1.27181128
101SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.26993665
102FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.26504872
103ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.26241383
104GABP_17652178_ChIP-ChIP_JURKAT_Human1.25374491
105PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.23892344
106MYCN_18555785_ChIP-Seq_MESCs_Mouse1.23709944
107ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.21328685
108ELK1_19687146_ChIP-ChIP_HELA_Human1.20590191
109* MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.20423790
110SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.20099046
111CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.19477193
112FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.19162781
113HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.18767888
114CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.18734549
115TFEB_21752829_ChIP-Seq_HELA_Human1.18182831
116CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.16865566
117SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.16389324
118SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.16389324
119MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.16121165
120GBX2_23144817_ChIP-Seq_PC3_Human1.15321284
121PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.14052604
122* E2F1_21310950_ChIP-Seq_MCF-7_Human1.14032233
123SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.12940195
124POU5F1_16153702_ChIP-ChIP_HESCs_Human1.12059856
125PU_27001747_Chip-Seq_BMDM_Mouse1.12002931
126SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.11378860
127* ZFX_18555785_ChIP-Seq_MESCs_Mouse1.09975778
128KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.09421344
129CTBP2_25329375_ChIP-Seq_LNCAP_Human1.09117873
130CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.08143533
131CREB1_15753290_ChIP-ChIP_HEK293T_Human1.07313836
132ELK1_22589737_ChIP-Seq_MCF10A_Human1.04041206
133NANOG_16153702_ChIP-ChIP_HESCs_Human1.03350595
134THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.03315281
135SALL4_18804426_ChIP-ChIP_XEN_Mouse1.03101477
136POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.03064416
137RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.02577394
138MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.01514050
139PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.00771022
140CTBP1_25329375_ChIP-Seq_LNCAP_Human1.00422807
141PCGF2_27294783_Chip-Seq_ESCs_Mouse0.99765333
142JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.99742103
143CBP_20019798_ChIP-Seq_JUKART_Human0.97193582
144IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.97193582
145HIF1A_21447827_ChIP-Seq_MCF-7_Human0.97122301
146PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.96098646
147SOX2_16153702_ChIP-ChIP_HESCs_Human0.95447324
148CJUN_26792858_Chip-Seq_BT549_Human0.95341171
149TP53_22573176_ChIP-Seq_HFKS_Human0.94634016
150DCP1A_22483619_ChIP-Seq_HELA_Human0.94324693
151GATA4_25053715_ChIP-Seq_YYC3_Human0.94251322
152EZH2_27294783_Chip-Seq_NPCs_Mouse0.94139270
153* HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.93980172
154VDR_24787735_ChIP-Seq_THP-1_Human0.93849787
155EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.93842611
156* CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.93355379
157MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.93086807
158PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.92636521
159HTT_18923047_ChIP-ChIP_STHdh_Human0.92473410
160JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.92403786
161STAT3_1855785_ChIP-Seq_MESCs_Mouse0.92255900
162NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.91724216
163RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.91436373
164OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.90024535
165RUNX1_22412390_ChIP-Seq_EML_Mouse0.89731673
166SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.89572648
167* SRF_21415370_ChIP-Seq_HL-1_Mouse0.89543215
168NANOG_19829295_ChIP-Seq_ESCs_Human0.88583677
169SOX2_19829295_ChIP-Seq_ESCs_Human0.88583677
170SOX17_20123909_ChIP-Seq_XEN_Mouse0.87225990
171CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.86359904
172GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.86281920
173GATA2_21666600_ChIP-Seq_HMVEC_Human0.85675072
174E2F1_18555785_ChIP-Seq_MESCs_Mouse0.85513411
175GATA2_22383799_ChIP-Seq_G1ME_Mouse0.84339888
176HOXB4_20404135_ChIP-ChIP_EML_Mouse0.84077253
177SALL4_22934838_ChIP-ChIP_CD34+_Human0.83929952
178FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.83639297
179AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.83569757
180UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.83403358
181* KLF5_20875108_ChIP-Seq_MESCs_Mouse0.83313058
182VDR_24763502_ChIP-Seq_THP-1_Human0.82977373
183EGR1_19032775_ChIP-ChIP_M12_Human0.80638181
184GATA3_26560356_Chip-Seq_TH2_Human0.79981389
185* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.79835246
186* P63_26484246_Chip-Seq_KERATINOCYTES_Human0.79261623

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001529_abnormal_vocalization3.47679297
2MP0005360_urolithiasis3.40930899
3MP0002139_abnormal_hepatobiliary_system3.26839936
4MP0003436_decreased_susceptibility_to3.23144541
5MP0009785_altered_susceptibility_to3.07407075
6MP0003195_calcinosis3.01395571
7MP0003806_abnormal_nucleotide_metabolis2.97254173
8MP0008058_abnormal_DNA_repair2.85089701
9MP0002938_white_spotting2.83594392
10MP0003186_abnormal_redox_activity2.83148116
11MP0001835_abnormal_antigen_presentation2.82486723
12MP0004147_increased_porphyrin_level2.80991318
13MP0006082_CNS_inflammation2.74874441
14MP0003724_increased_susceptibility_to2.63077463
15MP0005058_abnormal_lysosome_morphology2.61950500
16MP0000372_irregular_coat_pigmentation2.60270848
17MP0002148_abnormal_hypersensitivity_rea2.58654433
18MP0006072_abnormal_retinal_apoptosis2.55718698
19MP0008789_abnormal_olfactory_epithelium2.48050927
20MP0010094_abnormal_chromosome_stability2.44430549
21MP0002419_abnormal_innate_immunity2.37275980
22MP0003303_peritoneal_inflammation2.31849416
23MP0003880_abnormal_central_pattern2.28014722
24MP0006292_abnormal_olfactory_placode2.19843943
25MP0008438_abnormal_cutaneous_collagen2.16185386
26MP0005025_abnormal_response_to2.11923130
27MP0003122_maternal_imprinting2.11479022
28MP0005000_abnormal_immune_tolerance2.09715849
29MP0006036_abnormal_mitochondrial_physio2.09232090
30MP0005085_abnormal_gallbladder_physiolo2.07157554
31MP0008875_abnormal_xenobiotic_pharmacok2.06661099
32MP0009764_decreased_sensitivity_to2.03250221
33MP0005083_abnormal_biliary_tract2.00968164
34MP0002102_abnormal_ear_morphology1.98737510
35MP0005365_abnormal_bile_salt1.91912608
36MP0001533_abnormal_skeleton_physiology1.84910828
37MP0002837_dystrophic_cardiac_calcinosis1.83499660
38MP0003705_abnormal_hypodermis_morpholog1.74507833
39MP0004957_abnormal_blastocyst_morpholog1.74431043
40MP0008932_abnormal_embryonic_tissue1.71349424
41MP0003121_genomic_imprinting1.70342997
42MP0005499_abnormal_olfactory_system1.70263348
43MP0005394_taste/olfaction_phenotype1.70263348
44MP0005253_abnormal_eye_physiology1.68614876
45MP0002138_abnormal_hepatobiliary_system1.67715963
46MP0000343_altered_response_to1.66809148
47MP0008469_abnormal_protein_level1.66641336
48MP0001853_heart_inflammation1.65717100
49MP0003718_maternal_effect1.65173750
50MP0002234_abnormal_pharynx_morphology1.64255840
51MP0009840_abnormal_foam_cell1.63180801
52MP0005084_abnormal_gallbladder_morpholo1.62223326
53MP0002452_abnormal_antigen_presenting1.60761532
54MP0001845_abnormal_inflammatory_respons1.57354698
55MP0008995_early_reproductive_senescence1.56570957
56MP0001984_abnormal_olfaction1.55918744
57MP0001293_anophthalmia1.55713495
58MP0003252_abnormal_bile_duct1.54517873
59MP0000858_altered_metastatic_potential1.53750138
60MP0005387_immune_system_phenotype1.53520884
61MP0001790_abnormal_immune_system1.53520884
62MP0003191_abnormal_cellular_cholesterol1.53495007
63MP0005332_abnormal_amino_acid1.51059590
64MP0000685_abnormal_immune_system1.50022607
65MP0005464_abnormal_platelet_physiology1.48741294
66MP0002723_abnormal_immune_serum1.46002667
67MP0004947_skin_inflammation1.45852374
68MP0009379_abnormal_foot_pigmentation1.45414913
69MP0003787_abnormal_imprinting1.40924250
70MP0005646_abnormal_pituitary_gland1.40233880
71MP0003448_altered_tumor_morphology1.39367521
72MP0006276_abnormal_autonomic_nervous1.38268388
73MP0005257_abnormal_intraocular_pressure1.37780697
74MP0008877_abnormal_DNA_methylation1.37419557
75MP0000516_abnormal_urinary_system1.36083902
76MP0005367_renal/urinary_system_phenotyp1.36083902
77MP0002998_abnormal_bone_remodeling1.35543046
78MP0004510_myositis1.35229644
79MP0006054_spinal_hemorrhage1.33206556
80MP0002405_respiratory_system_inflammati1.33035525
81MP0004019_abnormal_vitamin_homeostasis1.32937242
82MP0005319_abnormal_enzyme/_coenzyme1.32707644
83MP0006035_abnormal_mitochondrial_morpho1.32508132
84MP0002090_abnormal_vision1.28537252
85MP0002233_abnormal_nose_morphology1.28502517
86MP0005164_abnormal_response_to1.28217439
87MP0001800_abnormal_humoral_immune1.25301708
88MP0005551_abnormal_eye_electrophysiolog1.23751939
89MP0002160_abnormal_reproductive_system1.23352710
90MP0003567_abnormal_fetal_cardiomyocyte1.22710069
91MP0001819_abnormal_immune_cell1.20864322
92MP0009763_increased_sensitivity_to1.19303845
93MP0005166_decreased_susceptibility_to1.18901353
94MP0009643_abnormal_urine_homeostasis1.18700808
95MP0010155_abnormal_intestine_physiology1.18684021
96MP0005075_abnormal_melanosome_morpholog1.18187271
97MP0004215_abnormal_myocardial_fiber1.18014577
98MP0002751_abnormal_autonomic_nervous1.17730431
99MP0003077_abnormal_cell_cycle1.17582183
100MP0002420_abnormal_adaptive_immunity1.17420779
101MP0009333_abnormal_splenocyte_physiolog1.17229931
102MP0003315_abnormal_perineum_morphology1.17144004
103MP0005671_abnormal_response_to1.14836914
104MP0008057_abnormal_DNA_replication1.14752726
105MP0010386_abnormal_urinary_bladder1.14692286
106MP0000609_abnormal_liver_physiology1.12314075
107MP0003075_altered_response_to1.12045098
108MP0002638_abnormal_pupillary_reflex1.11802426
109MP0003300_gastrointestinal_ulcer1.10152691
110MP0005023_abnormal_wound_healing1.10028660
111MP0005379_endocrine/exocrine_gland_phen1.09833786
112MP0003786_premature_aging1.09797819
113MP0002282_abnormal_trachea_morphology1.08988209
114MP0003693_abnormal_embryo_hatching1.08653163
115MP0003566_abnormal_cell_adhesion1.08307088
116MP0010329_abnormal_lipoprotein_level1.07975286
117MP0003111_abnormal_nucleus_morphology1.07511840
118MP0000604_amyloidosis1.07372951
119MP0001958_emphysema1.05591887
120MP0005584_abnormal_enzyme/coenzyme_acti1.05353394
121MP0008007_abnormal_cellular_replicative1.02085745
122MP0005187_abnormal_penis_morphology1.01856523
123MP0002136_abnormal_kidney_physiology1.01768139
124MP0003011_delayed_dark_adaptation1.00470210
125MP0005408_hypopigmentation1.00279401
126MP0005390_skeleton_phenotype0.99486159
127MP0005391_vision/eye_phenotype0.99364436
128MP0003656_abnormal_erythrocyte_physiolo0.99120052
129MP0000631_abnormal_neuroendocrine_gland0.98966232
130MP0000358_abnormal_cell_content/0.97458956
131MP0010352_gastrointestinal_tract_polyps0.96740159
132MP0000647_abnormal_sebaceous_gland0.95895740
133MP0001542_abnormal_bone_strength0.95735967
134MP0003172_abnormal_lysosome_physiology0.94482936
135MP0002736_abnormal_nociception_after0.94267585
136MP0002095_abnormal_skin_pigmentation0.93155241
137MP0004133_heterotaxia0.92689718
138MP0004782_abnormal_surfactant_physiolog0.92382143
139MP0005645_abnormal_hypothalamus_physiol0.92308795
140MP0005248_abnormal_Harderian_gland0.91926035
141MP0003937_abnormal_limbs/digits/tail_de0.91593077
142MP0003283_abnormal_digestive_organ0.91073654
143MP0000598_abnormal_liver_morphology0.90912034
144MP0002163_abnormal_gland_morphology0.90456327
145MP0009697_abnormal_copulation0.89568581
146MP0008004_abnormal_stomach_pH0.89179147
147MP0005171_absent_coat_pigmentation0.88771975
148MP0005636_abnormal_mineral_homeostasis0.88512687
149MP0004142_abnormal_muscle_tone0.87870785
150MP0001666_abnormal_nutrient_absorption0.87455641
151MP0002933_joint_inflammation0.87287152
152MP0010030_abnormal_orbit_morphology0.86435048
153MP0005275_abnormal_skin_tensile0.86228322
154MP0003453_abnormal_keratinocyte_physiol0.85212579
155MP0003279_aneurysm0.85200392
156MP0001286_abnormal_eye_development0.83976310
157MP0004145_abnormal_muscle_electrophysio0.82825921
158MP0010307_abnormal_tumor_latency0.81666313
159MP0002295_abnormal_pulmonary_circulatio0.81037705
160MP0001756_abnormal_urination0.80593158
161MP0000778_abnormal_nervous_system0.78476140
162MP0003795_abnormal_bone_structure0.77681136
163MP0002006_tumorigenesis0.77517224
164MP0005451_abnormal_body_composition0.77479467
165MP0002876_abnormal_thyroid_physiology0.77442417
166MP0000249_abnormal_blood_vessel0.76562752
167MP0003091_abnormal_cell_migration0.76470239
168MP0003941_abnormal_skin_development0.76067064
169MP0005174_abnormal_tail_pigmentation0.76003637
170MP0000653_abnormal_sex_gland0.74672280
171MP0001764_abnormal_homeostasis0.74197824
172MP0008873_increased_physiological_sensi0.73985695
173MP0001324_abnormal_eye_pigmentation0.73678747
174MP0003755_abnormal_palate_morphology0.73667705
175MP0005195_abnormal_posterior_eye0.73528799
176MP0001243_abnormal_dermal_layer0.73496799
177MP0003385_abnormal_body_wall0.72927726
178MP0000716_abnormal_immune_system0.72886960
179MP0002210_abnormal_sex_determination0.71881818
180MP0002118_abnormal_lipid_homeostasis0.71486027
181MP0002332_abnormal_exercise_endurance0.71379190
182MP0005397_hematopoietic_system_phenotyp0.71365132
183MP0001929_abnormal_gametogenesis0.71194122
184MP0005389_reproductive_system_phenotype0.70611424
185MP0009046_muscle_twitch0.67853114
186MP0004134_abnormal_chest_morphology0.67468922
187MP0008872_abnormal_physiological_respon0.67448101
188MP0000049_abnormal_middle_ear0.67107571
189MP0001119_abnormal_female_reproductive0.66947738
190MP0001145_abnormal_male_reproductive0.66327331
191MP0001905_abnormal_dopamine_level0.65182866

Predicted human phenotypes

RankGene SetZ-score
1Recurrent gram-negative bacterial infections (HP:0005420)5.66226357
2Eczematoid dermatitis (HP:0000976)5.44976678
3Acute necrotizing encephalopathy (HP:0006965)4.87175590
4Recurrent abscess formation (HP:0002722)4.84199221
5Acute encephalopathy (HP:0006846)4.63928371
6Recurrent bacterial skin infections (HP:0005406)4.63122609
7Abnormal mitochondria in muscle tissue (HP:0008316)4.45168634
8Mitochondrial inheritance (HP:0001427)4.28932835
9Progressive macrocephaly (HP:0004481)4.20029379
10Vacuolated lymphocytes (HP:0001922)4.14636792
11Hepatocellular necrosis (HP:0001404)4.10201010
12Hepatic necrosis (HP:0002605)4.01760912
13Increased CSF lactate (HP:0002490)4.01122872
14Abnormality of macrophages (HP:0004311)3.99818417
15Increased hepatocellular lipid droplets (HP:0006565)3.69148322
16Axonal loss (HP:0003447)3.63390699
17Increased serum pyruvate (HP:0003542)3.54562227
18Lipid accumulation in hepatocytes (HP:0006561)3.50142694
19Cerebral edema (HP:0002181)3.46584755
20Autoimmune thrombocytopenia (HP:0001973)3.46319633
21Systemic lupus erythematosus (HP:0002725)3.26011249
22Hyperglycinemia (HP:0002154)3.25697987
23Abnormality of glycolysis (HP:0004366)3.25520139
24Abnormality of glutamine family amino acid metabolism (HP:0010902)3.23038318
25Mediastinal lymphadenopathy (HP:0100721)3.22960824
26Vertebral compression fractures (HP:0002953)3.19029433
273-Methylglutaconic aciduria (HP:0003535)3.17117238
28Medial flaring of the eyebrow (HP:0010747)3.15031539
29Xanthomatosis (HP:0000991)3.14082859
30Myocardial infarction (HP:0001658)3.11957786
31Abnormality of aromatic amino acid family metabolism (HP:0004338)3.10935346
32Renal Fanconi syndrome (HP:0001994)3.07503386
33Tetraparesis (HP:0002273)2.99951102
34Nausea (HP:0002018)2.99461965
35Abnormality of monocarboxylic acid metabolism (HP:0010996)2.98470208
36Colon cancer (HP:0003003)2.94907532
37Joint hemorrhage (HP:0005261)2.94689130
38Increased cerebral lipofuscin (HP:0011813)2.93430197
39Lactic acidosis (HP:0003128)2.89627108
40Increased serum lactate (HP:0002151)2.89038275
41Gingivitis (HP:0000230)2.88284872
42Congenital primary aphakia (HP:0007707)2.87892755
43Recurrent skin infections (HP:0001581)2.84711402
44Increased neuronal autofluorescent lipopigment (HP:0002074)2.80094654
45Pancreatic fibrosis (HP:0100732)2.76878007
46True hermaphroditism (HP:0010459)2.76067560
47Abnormality of methionine metabolism (HP:0010901)2.75692133
48Elevated erythrocyte sedimentation rate (HP:0003565)2.75563477
49Gait imbalance (HP:0002141)2.75008715
50Type I transferrin isoform profile (HP:0003642)2.71198678
51Stomatitis (HP:0010280)2.68773297
52Respiratory failure (HP:0002878)2.66477883
53Nephrogenic diabetes insipidus (HP:0009806)2.66407248
54Urticaria (HP:0001025)2.65798121
55Peritonitis (HP:0002586)2.64920032
56Intrahepatic cholestasis (HP:0001406)2.61210281
57Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.60358200
58Abnormality of midbrain morphology (HP:0002418)2.58805935
59Molar tooth sign on MRI (HP:0002419)2.58805935
60Prolonged partial thromboplastin time (HP:0003645)2.58032684
61Deep venous thrombosis (HP:0002625)2.54704913
62Reduced antithrombin III activity (HP:0001976)2.53630096
63Reticulocytopenia (HP:0001896)2.51259499
64Decreased activity of mitochondrial respiratory chain (HP:0008972)2.50904036
65Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.50904036
66Abnormality of proline metabolism (HP:0010907)2.49523019
67Hydroxyprolinuria (HP:0003080)2.49523019
68Abnormality of the common coagulation pathway (HP:0010990)2.47354374
69Methylmalonic acidemia (HP:0002912)2.46059721
70Optic disc pallor (HP:0000543)2.44895381
71Orchitis (HP:0100796)2.42969393
72Chronic obstructive pulmonary disease (HP:0006510)2.40618966
73Obstructive lung disease (HP:0006536)2.40618966
74Abnormal protein glycosylation (HP:0012346)2.39103589
75Abnormal glycosylation (HP:0012345)2.39103589
76Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.39103589
77Abnormal protein N-linked glycosylation (HP:0012347)2.39103589
78Interstitial pulmonary disease (HP:0006530)2.36511352
79Increased intramyocellular lipid droplets (HP:0012240)2.36386650
80Exercise intolerance (HP:0003546)2.35419066
81Macrocytic anemia (HP:0001972)2.34941190
82Myositis (HP:0100614)2.34483315
83Lethargy (HP:0001254)2.33790156
84Increased serum ferritin (HP:0003281)2.33163428
85Leukodystrophy (HP:0002415)2.32463549
86Exertional dyspnea (HP:0002875)2.32020430
87Pancreatic cysts (HP:0001737)2.30816840
88Hypobetalipoproteinemia (HP:0003563)2.30814648
89Dysostosis multiplex (HP:0000943)2.30549700
90Glomerulonephritis (HP:0000099)2.27713618
91Abnormality of complement system (HP:0005339)2.27006624
92Abnormality of serum amino acid levels (HP:0003112)2.26984700
93Abnormality of cells of the erythroid lineage (HP:0012130)2.26274990
94Poor head control (HP:0002421)2.25542446
95Genital tract atresia (HP:0001827)2.25118953
96Nephronophthisis (HP:0000090)2.25044602
97CNS demyelination (HP:0007305)2.24261107
98Degeneration of anterior horn cells (HP:0002398)2.23877310
99Abnormality of the anterior horn cell (HP:0006802)2.23877310
100Osteolytic defects of the hand bones (HP:0009699)2.23452227
101Osteolytic defects of the phalanges of the hand (HP:0009771)2.23452227
102Abnormality of iron homeostasis (HP:0011031)2.22102535
103Pathologic fracture (HP:0002756)2.20858173
104Hypoglycemic coma (HP:0001325)2.20578075
105Short tibia (HP:0005736)2.20370149
106Esophageal varix (HP:0002040)2.19465537
107Premature rupture of membranes (HP:0001788)2.19199917
108Vaginal atresia (HP:0000148)2.17948421
109Abnormality of serine family amino acid metabolism (HP:0010894)2.17592234
110Abnormality of glycine metabolism (HP:0010895)2.17592234
111Abnormality of purine metabolism (HP:0004352)2.16112769
112Hyperglycinuria (HP:0003108)2.15479839
113Neoplasm of the adrenal gland (HP:0100631)2.14908203
114Abnormal hemoglobin (HP:0011902)2.14465218
115Basal ganglia calcification (HP:0002135)2.12988591
116Pustule (HP:0200039)2.12935608
117Abnormal number of erythroid precursors (HP:0012131)2.12742472
118Increased IgM level (HP:0003496)2.11841688
119Abnormality of the labia minora (HP:0012880)2.10333305
120Urinary glycosaminoglycan excretion (HP:0003541)2.09701775
121Mucopolysacchariduria (HP:0008155)2.09701775
122Hepatosplenomegaly (HP:0001433)2.09519467
123Bile duct proliferation (HP:0001408)2.09323882
124Abnormal biliary tract physiology (HP:0012439)2.09323882
125Fat malabsorption (HP:0002630)2.09020353
126Proximal tubulopathy (HP:0000114)2.08775394
127Hypercholesterolemia (HP:0003124)2.06515800
128Recurrent fungal infections (HP:0002841)2.06257286
129Aplasia/Hypoplasia of the tongue (HP:0010295)2.05773131
130Complement deficiency (HP:0004431)2.05632207
131Microvesicular hepatic steatosis (HP:0001414)2.03687842
132Abnormality of renal resorption (HP:0011038)2.01009536
133Generalized aminoaciduria (HP:0002909)2.00646917
134Gingival bleeding (HP:0000225)2.00511056
135Abnormality of nucleobase metabolism (HP:0010932)2.00226699
136Periodontitis (HP:0000704)2.00116516
137Bifid tongue (HP:0010297)1.99909839
138Abnormality of transition element cation homeostasis (HP:0011030)1.99401676
139Vasculitis (HP:0002633)1.98861049
140Abnormality of aspartate family amino acid metabolism (HP:0010899)1.98285567
141Menorrhagia (HP:0000132)1.97166497
142Renal cortical cysts (HP:0000803)1.97049889
143Bone pain (HP:0002653)1.96954015
144Purpura (HP:0000979)1.96088030
145Vascular calcification (HP:0004934)1.95337031
146Nephritis (HP:0000123)1.95118659
147Esophageal neoplasm (HP:0100751)1.94421400
148Neoplasm of head and neck (HP:0012288)1.94421400
149Beaking of vertebral bodies (HP:0004568)1.93523624
150Tubulointerstitial nephritis (HP:0001970)1.92555226
151Glycosuria (HP:0003076)1.92519098
152Abnormality of urine glucose concentration (HP:0011016)1.92519098
153Intestinal atresia (HP:0011100)1.92502652
154Hypothermia (HP:0002045)1.92385903
155Cardiovascular calcification (HP:0011915)1.92002998
156Hypolipoproteinemia (HP:0010981)1.91878104
157Abnormality of sulfur amino acid metabolism (HP:0004339)1.91722290
158Aplasia/Hypoplasia of the tibia (HP:0005772)1.91341543
159Steatorrhea (HP:0002570)1.90962421
160Abnormality of dicarboxylic acid metabolism (HP:0010995)1.90737526
161Dicarboxylic aciduria (HP:0003215)1.90737526
162Increased muscle lipid content (HP:0009058)1.89132212
163Hyperinsulinemic hypoglycemia (HP:0000825)1.89131987
164Abnormality of fatty-acid metabolism (HP:0004359)1.88219114
165Hepatocellular carcinoma (HP:0001402)1.87925343
166Mucosal telangiectasiae (HP:0100579)1.87706910
167Disinhibition (HP:0000734)1.86836649
168Emotional lability (HP:0000712)1.86265647
169Abnormality of the level of lipoprotein cholesterol (HP:0010979)1.86033806
170Optic neuritis (HP:0100653)1.85299651
171Retrobulbar optic neuritis (HP:0100654)1.85299651
172Cellulitis (HP:0100658)1.85293599
173Osteomyelitis (HP:0002754)1.83783925
174Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.83559519
175Abnormality of the intrinsic pathway (HP:0010989)1.83317196
176Sclerocornea (HP:0000647)1.83030945
177Supernumerary spleens (HP:0009799)1.82989837
178Methylmalonic aciduria (HP:0012120)1.82973482
179Triphalangeal thumb (HP:0001199)1.82963013
180Mitral stenosis (HP:0001718)1.82719545
181Multiple enchondromatosis (HP:0005701)1.81989444
182Abnormal cartilage morphology (HP:0002763)1.81233255
183Protrusio acetabuli (HP:0003179)1.81131235
184Poor coordination (HP:0002370)1.80561340
185Joint swelling (HP:0001386)1.79983631
186Pancreatic islet-cell hyperplasia (HP:0004510)1.79475756
187Volvulus (HP:0002580)1.79096234
188Hypoglycemic seizures (HP:0002173)1.78895418
189Decreased testicular size (HP:0008734)1.78713789
190Hyperphosphaturia (HP:0003109)1.76839885
191Abnormality of the renal medulla (HP:0100957)1.75081273
192Postaxial foot polydactyly (HP:0001830)1.74934366
193Respiratory difficulties (HP:0002880)1.74491692
194Median cleft lip (HP:0000161)1.73885040
195Broad foot (HP:0001769)1.73146197
196Male pseudohermaphroditism (HP:0000037)1.72130651

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PBK5.91277722
2NME23.76686736
3MAP3K143.19481023
4TBK13.15560606
5VRK23.14254818
6MAP4K22.95372160
7PIM22.82238114
8NEK12.68683339
9ERN12.65282916
10MST1R2.64573335
11STK162.55632574
12IRAK32.48665864
13NUAK12.37611063
14BUB12.36547481
15TESK12.36384601
16RIPK42.23031573
17NEK92.18133229
18ZAK2.17168967
19VRK12.14677032
20WNK32.14438431
21BLK2.13930933
22MAP3K122.12928155
23ABL22.05418870
24TYK22.01914306
25TRIM281.96388019
26RPS6KA41.95736871
27PLK31.91660298
28EIF2AK11.91330094
29MKNK11.89375301
30PLK41.89292157
31WEE11.83795220
32SRPK11.80105960
33IKBKE1.77097675
34IRAK41.74034453
35ERBB41.72013230
36IKBKB1.66487349
37LIMK11.53599580
38MAP3K41.52803903
39MST41.51463251
40MAP3K111.45152871
41JAK31.43900566
42TRPM71.42258446
43CSNK1G31.40164519
44CDC71.36006428
45CSNK1G11.31224871
46TNIK1.30478188
47PIK3CG1.29407643
48CCNB11.28541302
49CDK191.27190039
50ERBB31.25978114
51PLK21.21681082
52MAP3K31.21576008
53KIT1.21296899
54CSNK1G21.21015669
55TESK21.19659184
56BMX1.19339778
57DYRK31.16701224
58DYRK21.14663611
59PLK11.13432118
60TTK1.12210871
61CSNK1A1L1.11637210
62JAK11.10804187
63TAF11.10215305
64KDR1.09600413
65PINK11.08506885
66CASK1.08026223
67CSK1.06973600
68TXK1.06575647
69MKNK21.05788882
70BRSK21.04445506
71LRRK21.03808991
72CDK80.99674675
73TTN0.98998243
74INSRR0.98744191
75STK40.95723109
76MET0.94730084
77FLT30.93661241
78MAPK130.93225831
79MAP3K50.93187225
80TSSK60.93096476
81EIF2AK30.91260351
82MAP2K70.90778236
83FGFR40.89788172
84CHUK0.89614840
85MAP2K30.89391319
86PASK0.89244138
87BCKDK0.88799490
88GRK10.86535945
89PIM10.84560488
90AURKB0.84390704
91EPHA20.82071877
92MOS0.81829932
93FRK0.81245083
94ZAP700.78710407
95TAOK20.78379369
96ARAF0.75803257
97PNCK0.74806979
98LYN0.73846412
99ILK0.71771790
100TAOK30.70071090
101ADRBK20.69819645
102TIE10.69367063
103DAPK30.68298723
104EIF2AK20.67968391
105TRIB30.67675861
106ATR0.66430529
107MUSK0.66346638
108PRKG20.64268847
109CHEK20.63572867
110DAPK10.63461842
111MINK10.63425782
112PRKCD0.62633687
113STK100.62133386
114CSNK2A20.62021546
115EGFR0.60628492
116PRKCE0.59751483
117MYLK0.59531824
118STK390.58983011
119MARK30.58488950
120SCYL20.58231845
121MAPKAPK50.57934361
122JAK20.56813685
123CSNK2A10.56355801
124ABL10.54901204
125ATM0.53865702
126PAK30.53773289
127TGFBR10.53424471
128STK30.53149014
129PDK20.53121498
130PTK60.52767167
131HCK0.51657728
132MATK0.51396944
133IRAK20.51391761
134EPHB10.51236742
135MAP3K130.51068035
136BMPR1B0.51023100
137SYK0.49731726
138MAP4K10.49583302
139PAK40.49456982
140MAP2K10.48763375
141DDR20.48610150
142LCK0.48315122
143TEC0.48207227
144PKN20.47879358
145FGR0.47835313
146IRAK10.47736585
147BMPR20.46940814
148ACVR1B0.46245518
149EPHA40.46138281
150CSF1R0.45944855
151TLK10.45773272
152MAP3K80.45647531
153TGFBR20.44046590
154PIK3CA0.43820531
155EPHA30.43471714
156PRKCG0.43104746
157RPS6KA50.42916892
158OBSCN0.42800017
159BCR0.42200429
160NME10.42185530
161CDK140.41105290
162CDK30.40441082
163BTK0.39422900
164PTK20.39182823
165WNK40.38807981
166CDK60.38732893
167NEK20.38635901
168EPHB20.36293701
169STK38L0.35409967
170CAMK2D0.34719887
171PHKG20.33810858
172PHKG10.33810858
173OXSR10.32468403

Predicted pathways (KEGG)

RankGene SetZ-score
1Staphylococcus aureus infection_Homo sapiens_hsa051502.72344837
2Propanoate metabolism_Homo sapiens_hsa006402.60576201
3Pentose and glucuronate interconversions_Homo sapiens_hsa000402.32750274
4Mismatch repair_Homo sapiens_hsa034302.31070627
5Legionellosis_Homo sapiens_hsa051342.28875373
6Graft-versus-host disease_Homo sapiens_hsa053322.27016849
7Leishmaniasis_Homo sapiens_hsa051402.24452200
8Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.24427409
9Fatty acid elongation_Homo sapiens_hsa000622.23098798
10Primary bile acid biosynthesis_Homo sapiens_hsa001202.12359891
11Terpenoid backbone biosynthesis_Homo sapiens_hsa009002.10461676
12DNA replication_Homo sapiens_hsa030302.09758747
13Non-homologous end-joining_Homo sapiens_hsa034502.06356561
14Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.99154028
15Proteasome_Homo sapiens_hsa030501.99130605
16Huntingtons disease_Homo sapiens_hsa050161.97299673
17Complement and coagulation cascades_Homo sapiens_hsa046101.95867130
18Malaria_Homo sapiens_hsa051441.88837669
19RNA polymerase_Homo sapiens_hsa030201.87738602
20Butanoate metabolism_Homo sapiens_hsa006501.79915780
21Alzheimers disease_Homo sapiens_hsa050101.79715862
22Rheumatoid arthritis_Homo sapiens_hsa053231.79171854
23Toll-like receptor signaling pathway_Homo sapiens_hsa046201.78491790
24Homologous recombination_Homo sapiens_hsa034401.78448801
25Phagosome_Homo sapiens_hsa041451.77623182
26Pertussis_Homo sapiens_hsa051331.75436214
27Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.74528388
28Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.73759977
29Base excision repair_Homo sapiens_hsa034101.73337225
30Nucleotide excision repair_Homo sapiens_hsa034201.65094531
31Pyruvate metabolism_Homo sapiens_hsa006201.64168965
32Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.62586288
33Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.62197501
34Lysosome_Homo sapiens_hsa041421.55109526
35Fanconi anemia pathway_Homo sapiens_hsa034601.51602198
36Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.50591154
37RNA degradation_Homo sapiens_hsa030181.48454858
38Spliceosome_Homo sapiens_hsa030401.47475440
39NF-kappa B signaling pathway_Homo sapiens_hsa040641.47250019
40Tuberculosis_Homo sapiens_hsa051521.44914523
41Arginine biosynthesis_Homo sapiens_hsa002201.44878465
42Peroxisome_Homo sapiens_hsa041461.44819359
43Allograft rejection_Homo sapiens_hsa053301.44666419
44NOD-like receptor signaling pathway_Homo sapiens_hsa046211.43216485
45Chemical carcinogenesis_Homo sapiens_hsa052041.41885352
46Caffeine metabolism_Homo sapiens_hsa002321.39621367
47Glutathione metabolism_Homo sapiens_hsa004801.38730956
48Steroid biosynthesis_Homo sapiens_hsa001001.38363128
49Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.37337045
50Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.36333099
51Basal transcription factors_Homo sapiens_hsa030221.35232629
52Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.33711765
53RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.33632851
54RNA transport_Homo sapiens_hsa030131.32956551
55Tryptophan metabolism_Homo sapiens_hsa003801.32549059
56Pyrimidine metabolism_Homo sapiens_hsa002401.31410476
57Folate biosynthesis_Homo sapiens_hsa007901.30351036
58Salmonella infection_Homo sapiens_hsa051321.29730499
59Asthma_Homo sapiens_hsa053101.27428514
60Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.23002763
61Osteoclast differentiation_Homo sapiens_hsa043801.22677101
62TNF signaling pathway_Homo sapiens_hsa046681.22190062
63Histidine metabolism_Homo sapiens_hsa003401.16453018
64Fatty acid degradation_Homo sapiens_hsa000711.16396962
65Cardiac muscle contraction_Homo sapiens_hsa042601.16160197
66Fatty acid metabolism_Homo sapiens_hsa012121.14932225
67Sulfur metabolism_Homo sapiens_hsa009201.13945265
68Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.09274001
69Type I diabetes mellitus_Homo sapiens_hsa049401.05871934
70Drug metabolism - other enzymes_Homo sapiens_hsa009831.05752972
71Shigellosis_Homo sapiens_hsa051311.04081212
72Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.03342990
73Measles_Homo sapiens_hsa051621.02878593
74Oxidative phosphorylation_Homo sapiens_hsa001901.02743001
75Phenylalanine metabolism_Homo sapiens_hsa003600.99938677
76Influenza A_Homo sapiens_hsa051640.99855727
77Collecting duct acid secretion_Homo sapiens_hsa049660.99636753
78Purine metabolism_Homo sapiens_hsa002300.98352565
79Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.98044801
80Selenocompound metabolism_Homo sapiens_hsa004500.97966605
81Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.97779247
82Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.97011513
83PPAR signaling pathway_Homo sapiens_hsa033200.93554488
84Apoptosis_Homo sapiens_hsa042100.91087358
85Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.90246581
86Retinol metabolism_Homo sapiens_hsa008300.89932431
87Steroid hormone biosynthesis_Homo sapiens_hsa001400.89602077
88Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.89548907
89Glycosaminoglycan degradation_Homo sapiens_hsa005310.88300189
90Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.85687973
91Metabolic pathways_Homo sapiens_hsa011000.85094522
92Protein export_Homo sapiens_hsa030600.84977763
93Cell cycle_Homo sapiens_hsa041100.84465154
94Starch and sucrose metabolism_Homo sapiens_hsa005000.84188614
95Other glycan degradation_Homo sapiens_hsa005110.82800520
96Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.80747548
97Hematopoietic cell lineage_Homo sapiens_hsa046400.79691915
98Biosynthesis of amino acids_Homo sapiens_hsa012300.78498028
99Pentose phosphate pathway_Homo sapiens_hsa000300.78301420
100Maturity onset diabetes of the young_Homo sapiens_hsa049500.77774727
101African trypanosomiasis_Homo sapiens_hsa051430.77602866
102beta-Alanine metabolism_Homo sapiens_hsa004100.76779421
103Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.75948044
104Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.74956034
105Antigen processing and presentation_Homo sapiens_hsa046120.73483152
106Intestinal immune network for IgA production_Homo sapiens_hsa046720.72136733
107Vitamin B6 metabolism_Homo sapiens_hsa007500.69685912
108Sulfur relay system_Homo sapiens_hsa041220.69345734
109Mineral absorption_Homo sapiens_hsa049780.68886353
110Toxoplasmosis_Homo sapiens_hsa051450.68866958
111Vibrio cholerae infection_Homo sapiens_hsa051100.68111177
112Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.66894728
113Herpes simplex infection_Homo sapiens_hsa051680.66754797
114Regulation of autophagy_Homo sapiens_hsa041400.66362803
115Vitamin digestion and absorption_Homo sapiens_hsa049770.63613436
116* Carbon metabolism_Homo sapiens_hsa012000.63379505
117Tyrosine metabolism_Homo sapiens_hsa003500.62079613
118Amoebiasis_Homo sapiens_hsa051460.61681293
119Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.61034260
120Prion diseases_Homo sapiens_hsa050200.60440046
121Parkinsons disease_Homo sapiens_hsa050120.60373283
122Hepatitis C_Homo sapiens_hsa051600.57715963
123Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.57475746
124Ribosome_Homo sapiens_hsa030100.57286599
125Nitrogen metabolism_Homo sapiens_hsa009100.56299453
126Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.55935613
127Phototransduction_Homo sapiens_hsa047440.53590663
128Cysteine and methionine metabolism_Homo sapiens_hsa002700.52023766
129Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.51089038
130Leukocyte transendothelial migration_Homo sapiens_hsa046700.49846621
1312-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.49844373
132Viral myocarditis_Homo sapiens_hsa054160.49830368
133Arginine and proline metabolism_Homo sapiens_hsa003300.49797841
134Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.49736614
135One carbon pool by folate_Homo sapiens_hsa006700.49622638
136Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.48209935
137Oocyte meiosis_Homo sapiens_hsa041140.44638490
138Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.44359478
139p53 signaling pathway_Homo sapiens_hsa041150.43887472
140N-Glycan biosynthesis_Homo sapiens_hsa005100.40374465
141Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.35096284
142Fat digestion and absorption_Homo sapiens_hsa049750.34965936
143mRNA surveillance pathway_Homo sapiens_hsa030150.29087919
144Systemic lupus erythematosus_Homo sapiens_hsa053220.25030556
145Linoleic acid metabolism_Homo sapiens_hsa005910.24354553
146Arachidonic acid metabolism_Homo sapiens_hsa005900.24153636
147Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.22856145
148Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.21812936
149SNARE interactions in vesicular transport_Homo sapiens_hsa041300.18800011
150Alcoholism_Homo sapiens_hsa050340.15645604
151Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.14958598
152Ether lipid metabolism_Homo sapiens_hsa005650.12104770

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