BCL10

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 was identified by its translocation in a case of mucosa-associated lymphoid tissue (MALT) lymphoma. The protein encoded by this gene contains a caspase recruitment domain (CARD), and has been shown to induce apoptosis and to activate NF-kappaB. This protein is reported to interact with other CARD domain containing proteins including CARD9, 10, 11 and 14, which are thought to function as upstream regulators in NF-kappaB signaling. This protein is found to form a complex with MALT1, a protein encoded by another gene known to be translocated in MALT lymphoma. MALT1 and this protein are thought to synergize in the activation of NF-kappaB, and the deregulation of either of them may contribute to the same pathogenetic process that leads to the malignancy. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of T-helper cell differentiation (GO:0045623)6.31860869
2negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)6.31860869
3negative regulation of immunoglobulin mediated immune response (GO:0002890)6.01447112
4negative regulation of B cell mediated immunity (GO:0002713)6.01447112
5germinal center formation (GO:0002467)5.71716337
6regulation of memory T cell differentiation (GO:0043380)5.54734921
7negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)5.54307199
8regulation of T-helper 2 cell differentiation (GO:0045628)5.33384605
9* negative regulation of B cell apoptotic process (GO:0002903)4.92183658
10negative regulation of type 2 immune response (GO:0002829)4.89001729
11DNA deamination (GO:0045006)4.85842999
12regulation of mitotic spindle organization (GO:0060236)4.68866346
13regulation of ER to Golgi vesicle-mediated transport (GO:0060628)4.56372198
14positive regulation of receptor biosynthetic process (GO:0010870)4.29835354
15positive regulation of lipoprotein lipase activity (GO:0051006)4.25907441
16positive regulation of triglyceride lipase activity (GO:0061365)4.25907441
17keratinocyte development (GO:0003334)4.24690066
18positive regulation of toll-like receptor signaling pathway (GO:0034123)4.20882127
19negative regulation of alpha-beta T cell differentiation (GO:0046639)4.14313789
20antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.08504251
21water-soluble vitamin biosynthetic process (GO:0042364)4.01762122
22platelet dense granule organization (GO:0060155)3.94578163
23regulation of cholesterol storage (GO:0010885)3.92558578
24* regulation of B cell apoptotic process (GO:0002902)3.89048553
25positive regulation of triglyceride biosynthetic process (GO:0010867)3.88649273
26regulation of toll-like receptor 4 signaling pathway (GO:0034143)3.85404022
27regulation of germinal center formation (GO:0002634)3.80847061
28negative regulation of macrophage derived foam cell differentiation (GO:0010745)3.80736768
29apoptotic cell clearance (GO:0043277)3.77419997
30negative regulation of cytokine production involved in immune response (GO:0002719)3.77125510
31negative regulation of digestive system process (GO:0060457)3.73559167
32response to pheromone (GO:0019236)3.73012139
33regulation of interferon-gamma-mediated signaling pathway (GO:0060334)3.72098912
34cytidine metabolic process (GO:0046087)3.69922063
35cytidine catabolic process (GO:0006216)3.69922063
36cytidine deamination (GO:0009972)3.69922063
37regulation of response to interferon-gamma (GO:0060330)3.69831082
38positive regulation of cholesterol efflux (GO:0010875)3.67496361
39negative regulation of lipid storage (GO:0010888)3.64366717
40antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.61084672
41antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.61084672
42regulation of cholesterol homeostasis (GO:2000188)3.60587431
43antigen processing and presentation of endogenous antigen (GO:0019883)3.58011981
44positive regulation of gamma-delta T cell activation (GO:0046645)3.55622120
45regulation of spindle organization (GO:0090224)3.50672389
46respiratory chain complex IV assembly (GO:0008535)3.49579736
47positive regulation of protein autophosphorylation (GO:0031954)3.49555611
48proteasome assembly (GO:0043248)3.45505267
49protein K11-linked deubiquitination (GO:0035871)3.41100111
50indole-containing compound catabolic process (GO:0042436)3.32730581
51indolalkylamine catabolic process (GO:0046218)3.32730581
52tryptophan catabolic process (GO:0006569)3.32730581
53NLS-bearing protein import into nucleus (GO:0006607)3.32287154
54DNA double-strand break processing (GO:0000729)3.30769519
55negative regulation of innate immune response (GO:0045824)3.27539824
56tryptophan metabolic process (GO:0006568)3.23361970
57regulation of T-helper cell differentiation (GO:0045622)3.15204443
58regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043370)3.11959876
59positive regulation of sterol transport (GO:0032373)3.11311121
60positive regulation of cholesterol transport (GO:0032376)3.11311121
61negative regulation of alpha-beta T cell activation (GO:0046636)3.10592901
62negative regulation of mast cell activation (GO:0033004)3.10147261
63neutrophil activation involved in immune response (GO:0002283)3.07469726
64indolalkylamine metabolic process (GO:0006586)3.06907260
65regulation of interleukin-8 secretion (GO:2000482)3.04486986
66cytochrome complex assembly (GO:0017004)3.02846072
67positive regulation of fatty acid biosynthetic process (GO:0045723)3.02830154
68negative regulation of lymphocyte mediated immunity (GO:0002707)3.02542980
69pyrimidine ribonucleoside catabolic process (GO:0046133)3.01938464
70somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.00668719
71somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.00668719
72isotype switching (GO:0045190)3.00668719
73* immunoglobulin mediated immune response (GO:0016064)3.00245427
74signal peptide processing (GO:0006465)2.99952352
75lactate metabolic process (GO:0006089)2.98879285
76negative regulation of production of molecular mediator of immune response (GO:0002701)2.98063178
77intestinal epithelial cell development (GO:0060576)2.96265264
78positive regulation of B cell differentiation (GO:0045579)2.93940535
79transepithelial transport (GO:0070633)2.93897692
80regulation of interleukin-12 biosynthetic process (GO:0045075)2.93833552
81kynurenine metabolic process (GO:0070189)2.93721412
82protein complex biogenesis (GO:0070271)2.93531424
83L-fucose catabolic process (GO:0042355)2.91761034
84fucose catabolic process (GO:0019317)2.91761034
85L-fucose metabolic process (GO:0042354)2.91761034
86RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.89289397
87protein prenylation (GO:0018342)2.88753209
88prenylation (GO:0097354)2.88753209
89magnesium ion transport (GO:0015693)2.87351199
90positive regulation of interferon-alpha production (GO:0032727)2.87146292
91UDP-N-acetylglucosamine metabolic process (GO:0006047)2.86540018
92regulation of B cell receptor signaling pathway (GO:0050855)2.85636833
93positive regulation of glycoprotein biosynthetic process (GO:0010560)2.85044001
94protein K6-linked ubiquitination (GO:0085020)2.84627742
95NIK/NF-kappaB signaling (GO:0038061)2.83002637
96regulation of isotype switching (GO:0045191)2.82107372
97regulation of CD4-positive, alpha-beta T cell activation (GO:2000514)2.79991748
98maturation of 5.8S rRNA (GO:0000460)2.76017132
99regulation of interferon-alpha production (GO:0032647)2.75502543
100negative regulation of protein autophosphorylation (GO:0031953)2.75316517
101multicellular organism reproduction (GO:0032504)2.75133213
102positive regulation by symbiont of host defense response (GO:0052509)2.74724648
103modulation by symbiont of host defense response (GO:0052031)2.74724648
104modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.74724648
105modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.74724648
106positive regulation by organism of defense response of other organism involved in symbiotic interact2.74724648
107modulation by symbiont of host immune response (GO:0052553)2.74724648
108regulation of hexokinase activity (GO:1903299)2.72617244
109regulation of glucokinase activity (GO:0033131)2.72617244
110regulation of metalloenzyme activity (GO:0048552)2.71321484
111sulfation (GO:0051923)2.71162808
112Arp2/3 complex-mediated actin nucleation (GO:0034314)2.71047110
113regulation of protein autophosphorylation (GO:0031952)2.70674497
114response to peptidoglycan (GO:0032494)2.69087740
115regulation of gamma-delta T cell differentiation (GO:0045586)2.68648962
116leukocyte aggregation (GO:0070486)2.68334019
117amine catabolic process (GO:0009310)2.68326647
118cellular biogenic amine catabolic process (GO:0042402)2.68326647
119regulation of type 2 immune response (GO:0002828)2.68281615
120mitochondrial respiratory chain complex I assembly (GO:0032981)2.66778367
121NADH dehydrogenase complex assembly (GO:0010257)2.66778367
122mitochondrial respiratory chain complex I biogenesis (GO:0097031)2.66778367
123regulation of T-helper 1 cell differentiation (GO:0045625)2.66076049
124mitochondrial respiratory chain complex assembly (GO:0033108)2.66054619
125regulation of B cell differentiation (GO:0045577)2.65946792
126myeloid dendritic cell activation (GO:0001773)2.65825647
127protein import into nucleus, translocation (GO:0000060)2.64303338
128regulation of gamma-delta T cell activation (GO:0046643)2.63890706
129negative regulation of Rho protein signal transduction (GO:0035024)2.62880127
130regulation of interferon-beta biosynthetic process (GO:0045357)2.62539103
131* cellular defense response (GO:0006968)2.61789059
132protein neddylation (GO:0045116)2.61647416
133negative regulation of leukocyte mediated immunity (GO:0002704)2.61398454
134myeloid dendritic cell differentiation (GO:0043011)2.60595081
135negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.58632297
136cullin deneddylation (GO:0010388)2.58153197
137positive regulation of actin filament depolymerization (GO:0030836)2.56425904
138preassembly of GPI anchor in ER membrane (GO:0016254)2.55548557
139regulation of B cell mediated immunity (GO:0002712)2.55165303
140cellular response to zinc ion (GO:0071294)2.55020221
141positive regulation of chemokine biosynthetic process (GO:0045080)2.54528402
142response to muramyl dipeptide (GO:0032495)2.53414762
143negative regulation of B cell activation (GO:0050869)2.53405492
144negative regulation of systemic arterial blood pressure (GO:0003085)2.53134774
145regulation of cholesterol efflux (GO:0010874)2.52538504
146* B cell mediated immunity (GO:0019724)2.51559959
1473-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.51231490
148purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.51231490
149positive regulation of prostaglandin secretion (GO:0032308)2.50773157
150negative regulation of neurological system process (GO:0031645)2.48920082
151GPI anchor metabolic process (GO:0006505)2.48494682
152positive regulation of Cdc42 GTPase activity (GO:0043089)2.48481064
153intracellular transport of virus (GO:0075733)2.47959272
154multi-organism transport (GO:0044766)2.47959272
155multi-organism localization (GO:1902579)2.47959272
156multi-organism intracellular transport (GO:1902583)2.47959272
157transport of virus (GO:0046794)2.47959272
158dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.47884183
159neutrophil activation (GO:0042119)2.46662628
160positive regulation of B cell proliferation (GO:0030890)2.46582399
161positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.46297715
162ribosomal small subunit assembly (GO:0000028)2.46252279
163respiratory burst (GO:0045730)2.44589575
164response to thyroid hormone (GO:0097066)2.44316526
165regulation of immunoglobulin mediated immune response (GO:0002889)2.44063719
166regulation of glomerulus development (GO:0090192)2.43312910
167viral transcription (GO:0019083)2.42788538
168DNA demethylation (GO:0080111)2.42528508
169negative regulation of interleukin-12 production (GO:0032695)2.41680912
170regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.40425476
171regulation of cellular amino acid metabolic process (GO:0006521)2.40352275
172DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.40028070
173regulation of DNA endoreduplication (GO:0032875)2.39872371
174exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 2.39600349
175peptidyl-histidine modification (GO:0018202)2.39473977
176protein deneddylation (GO:0000338)2.39457855
177nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.36894797
178nucleotide transmembrane transport (GO:1901679)2.35415208
179cobalamin metabolic process (GO:0009235)2.35352030
180L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.35096374
181mannosylation (GO:0097502)2.34764808
182negative regulation of telomere maintenance (GO:0032205)2.34649015
183regulation of cell proliferation involved in kidney development (GO:1901722)2.34444005
184kidney morphogenesis (GO:0060993)2.33130156
185protein-cofactor linkage (GO:0018065)2.32943296
186histamine secretion (GO:0001821)2.32829841
187C-terminal protein lipidation (GO:0006501)2.32746479
188regulation of meiosis I (GO:0060631)2.32663562
189rRNA methylation (GO:0031167)2.32597414
190signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.30904482
191signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.30904482
192signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.30904482
193negative regulation of transcription regulatory region DNA binding (GO:2000678)2.29345629
194regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.28842158
195rRNA modification (GO:0000154)2.28455261
196tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.28296816
197RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.28296816
198intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.27451828

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human4.76612178
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.32944011
3FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.14514868
4E2F7_22180533_ChIP-Seq_HELA_Human3.68569563
5IRF8_21731497_ChIP-ChIP_J774_Mouse3.33800838
6IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.24709874
7EGR1_19374776_ChIP-ChIP_THP-1_Human3.17920429
8ZNF274_21170338_ChIP-Seq_K562_Hela2.82945138
9IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.78863169
10TP63_17297297_ChIP-ChIP_HaCaT_Human2.74847620
11BP1_19119308_ChIP-ChIP_Hs578T_Human2.69920502
12STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.66559670
13MYB_21317192_ChIP-Seq_ERMYB_Mouse2.62271334
14MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.57060890
15* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.54252031
16SMAD_19615063_ChIP-ChIP_OVARY_Human2.50309429
17KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.46622250
18IRF8_27001747_Chip-Seq_BMDM_Mouse2.44995345
19POU3F2_20337985_ChIP-ChIP_501MEL_Human2.41168184
20BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.39114619
21SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.38168333
22SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.35957566
23VDR_22108803_ChIP-Seq_LS180_Human2.35931941
24* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.34714551
25* STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.32010737
26CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.23533947
27FLI1_27457419_Chip-Seq_LIVER_Mouse2.18836446
28ZFP57_27257070_Chip-Seq_ESCs_Mouse2.16963937
29RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.09935392
30MYB_26560356_Chip-Seq_TH2_Human2.08617368
31* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.08354941
32NOTCH1_21737748_ChIP-Seq_TLL_Human2.07057554
33EWS_26573619_Chip-Seq_HEK293_Human2.04106194
34FUS_26573619_Chip-Seq_HEK293_Human2.03894787
35STAT4_19710469_ChIP-ChIP_TH1__Mouse2.03499209
36MYC_22102868_ChIP-Seq_BL_Human2.00065139
37SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.99413397
38NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.99143098
39SPI1_23547873_ChIP-Seq_NB4_Human1.99010902
40EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.98261464
41* MAF_26560356_Chip-Seq_TH1_Human1.97477360
42SALL1_21062744_ChIP-ChIP_HESCs_Human1.94897356
43VDR_21846776_ChIP-Seq_THP-1_Human1.93551101
44* P300_19829295_ChIP-Seq_ESCs_Human1.92110984
45VDR_24763502_ChIP-Seq_THP-1_Human1.89665542
46* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.86180691
47* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.82308989
48BRD4_27068464_Chip-Seq_AML-cells_Mouse1.80032867
49GBX2_23144817_ChIP-Seq_PC3_Human1.76403315
50GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.75682669
51RUNX_20019798_ChIP-Seq_JUKART_Human1.73914279
52TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.71285371
53* FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.71183417
54ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.69052967
55MYB_26560356_Chip-Seq_TH1_Human1.68191076
56PCGF2_27294783_Chip-Seq_ESCs_Mouse1.66735509
57MYC_18555785_ChIP-Seq_MESCs_Mouse1.65119224
58RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.63726844
59EZH2_27294783_Chip-Seq_NPCs_Mouse1.59603477
60RARG_19884340_ChIP-ChIP_MEFs_Mouse1.57903672
61* ER_23166858_ChIP-Seq_MCF-7_Human1.56801856
62TAF15_26573619_Chip-Seq_HEK293_Human1.56602336
63EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.54654551
64IGF1R_20145208_ChIP-Seq_DFB_Human1.52859614
65TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.51859021
66BCAT_22108803_ChIP-Seq_LS180_Human1.51750944
67CDX2_22108803_ChIP-Seq_LS180_Human1.50835752
68* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.50815277
69SUZ12_27294783_Chip-Seq_NPCs_Mouse1.50261132
70* EGR1_23403033_ChIP-Seq_LIVER_Mouse1.50073691
71RUNX1_22412390_ChIP-Seq_EML_Mouse1.48894164
72SCL_19346495_ChIP-Seq_HPC-7_Human1.45306823
73E2F4_17652178_ChIP-ChIP_JURKAT_Human1.43533441
74NFE2_27457419_Chip-Seq_LIVER_Mouse1.43027911
75UTX_26944678_Chip-Seq_JUKART_Human1.42148568
76* NANOG_19829295_ChIP-Seq_ESCs_Human1.42103470
77* SOX2_19829295_ChIP-Seq_ESCs_Human1.42103470
78* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.41999066
79FOXM1_23109430_ChIP-Seq_U2OS_Human1.40911186
80UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.40707130
81* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.40595615
82Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.40176708
83STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.39216267
84PADI4_21655091_ChIP-ChIP_MCF-7_Human1.37610091
85PIAS1_25552417_ChIP-Seq_VCAP_Human1.35995109
86VDR_23849224_ChIP-Seq_CD4+_Human1.33892743
87* ELK3_25401928_ChIP-Seq_HUVEC_Human1.33746218
88SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.32945350
89PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.32872380
90CBP_20019798_ChIP-Seq_JUKART_Human1.32867996
91IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.32867996
92* CJUN_26792858_Chip-Seq_BT549_Human1.31679885
93MYC_19079543_ChIP-ChIP_MESCs_Mouse1.29661273
94FOXA1_21572438_ChIP-Seq_LNCaP_Human1.28912283
95MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.28638645
96FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.28620914
97CLOCK_20551151_ChIP-Seq_293T_Human1.28303252
98CRX_20693478_ChIP-Seq_RETINA_Mouse1.28121112
99GABP_17652178_ChIP-ChIP_JURKAT_Human1.27953183
100PU_27001747_Chip-Seq_BMDM_Mouse1.26454411
101ERG_20887958_ChIP-Seq_HPC-7_Mouse1.26346804
102MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.25178758
103MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.25142192
104FOXA1_27270436_Chip-Seq_PROSTATE_Human1.24769231
105FOXA1_25329375_ChIP-Seq_VCAP_Human1.24769231
106CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.24364016
107CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.23919973
108CTBP2_25329375_ChIP-Seq_LNCAP_Human1.23629595
109TCF7_22412390_ChIP-Seq_EML_Mouse1.23133110
110GATA2_22383799_ChIP-Seq_G1ME_Mouse1.22505225
111* FOXM1_26456572_ChIP-Seq_MCF-7_Human1.22199483
112AR_25329375_ChIP-Seq_VCAP_Human1.21519207
113TCF4_22108803_ChIP-Seq_LS180_Human1.21350778
114CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.21024835
115* NANOG_18555785_Chip-Seq_ESCs_Mouse1.20950327
116SMAD4_21799915_ChIP-Seq_A2780_Human1.19856109
117EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.19675400
118PCGF2_27294783_Chip-Seq_NPCs_Mouse1.19447307
119GATA1_22383799_ChIP-Seq_G1ME_Mouse1.19218476
120CREB1_15753290_ChIP-ChIP_HEK293T_Human1.18960032
121* FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.18240330
122TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.18180055
123PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.17882647
124MAF_26560356_Chip-Seq_TH2_Human1.17547958
125* ELK1_19687146_ChIP-ChIP_HELA_Human1.17336754
126NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.16924258
127* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.16748163
128STAT3_1855785_ChIP-Seq_MESCs_Mouse1.16748015
129SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.16549939
130GATA1_22025678_ChIP-Seq_K562_Human1.15757888
131* NELFA_20434984_ChIP-Seq_ESCs_Mouse1.15628078
132* GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.14598066
133* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.14491927
134* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.14491927
135ELF1_17652178_ChIP-ChIP_JURKAT_Human1.12473582
136P53_22387025_ChIP-Seq_ESCs_Mouse1.12372496
137XRN2_22483619_ChIP-Seq_HELA_Human1.11549790
138NR3C1_21868756_ChIP-Seq_MCF10A_Human1.10746711
139MYC_18358816_ChIP-ChIP_MESCs_Mouse1.09868402
140CTBP1_25329375_ChIP-Seq_LNCAP_Human1.09394803
141SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.09291121
142ELK1_22589737_ChIP-Seq_MCF10A_Human1.09230101
143MYC_19030024_ChIP-ChIP_MESCs_Mouse1.09209160
144* AR_20517297_ChIP-Seq_VCAP_Human1.09176516
145STAT3_18555785_Chip-Seq_ESCs_Mouse1.08848564
146SMAD3_21741376_ChIP-Seq_EPCs_Human1.08781585
147* EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.08620044
148SRF_21415370_ChIP-Seq_HL-1_Mouse1.08537403
149E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.08277871
150GATA3_26560356_Chip-Seq_TH2_Human1.08095075
151BRD4_25478319_ChIP-Seq_HGPS_Human1.07820010
152GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07697156
153MYC_18940864_ChIP-ChIP_HL60_Human1.07370802
154TFEB_21752829_ChIP-Seq_HELA_Human1.07108777
155PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.07073967
156TP53_22573176_ChIP-Seq_HFKS_Human1.06847199
157SPI1_23127762_ChIP-Seq_K562_Human1.06707762
158VDR_24787735_ChIP-Seq_THP-1_Human1.06200816
159FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.05768290
160E2F1_18555785_Chip-Seq_ESCs_Mouse1.05762833
161GATA3_27048872_Chip-Seq_THYMUS_Human1.05658813
162CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.05336732
163SUZ12_18555785_Chip-Seq_ESCs_Mouse1.04950711
164* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.04817758
165STAT3_23295773_ChIP-Seq_U87_Human1.04474406
166P300_18555785_Chip-Seq_ESCs_Mouse1.04391495
167TP53_18474530_ChIP-ChIP_U2OS_Human1.03234409
168MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.02750177
169* SMAD4_21741376_ChIP-Seq_EPCs_Human1.02457310
170GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.02398073
171CDX2_19796622_ChIP-Seq_MESCs_Mouse1.01854692
172OCT4_21477851_ChIP-Seq_ESCs_Mouse1.01698514
173PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.01300482
174TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.99975394
175NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.99035919
176FOXP3_21729870_ChIP-Seq_TREG_Human0.98712716
177LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.98189403
178SMAD4_19686287_ChIP-ChIP_HaCaT_Human0.96804603
179* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.94963242
180LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.93977194
181CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.93869690
182AR_21909140_ChIP-Seq_LNCAP_Human0.93511943
183EST1_17652178_ChIP-ChIP_JURKAT_Human0.92983331
184STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.91508020
185KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.90892854
186HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.89466345
187CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.89063292

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system5.27207904
2MP0003191_abnormal_cellular_cholesterol4.91104009
3MP0003195_calcinosis4.16266319
4MP0002138_abnormal_hepatobiliary_system3.95100360
5MP0000685_abnormal_immune_system3.55112406
6MP0001853_heart_inflammation3.44563284
7MP0002163_abnormal_gland_morphology3.41899531
8MP0001835_abnormal_antigen_presentation3.15859063
9MP0003950_abnormal_plasma_membrane2.99272712
10MP0005084_abnormal_gallbladder_morpholo2.86866957
11MP0009785_altered_susceptibility_to2.79232235
12MP0003436_decreased_susceptibility_to2.73276531
13MP0005379_endocrine/exocrine_gland_phen2.50084361
14MP0001790_abnormal_immune_system2.42992919
15MP0005387_immune_system_phenotype2.42992919
16MP0005671_abnormal_response_to2.42160558
17MP0005000_abnormal_immune_tolerance2.39238909
18MP0003724_increased_susceptibility_to2.34545921
19MP0009333_abnormal_splenocyte_physiolog2.32267258
20MP0002148_abnormal_hypersensitivity_rea2.32199616
21MP0003303_peritoneal_inflammation2.32017049
22MP0002102_abnormal_ear_morphology2.31913880
23* MP0001800_abnormal_humoral_immune2.26988765
24MP0000613_abnormal_salivary_gland2.24939259
25* MP0005025_abnormal_response_to2.24307019
26MP0008877_abnormal_DNA_methylation2.18069640
27* MP0002452_abnormal_antigen_presenting2.16543979
28MP0002419_abnormal_innate_immunity2.10133290
29* MP0002723_abnormal_immune_serum2.07870873
30MP0002405_respiratory_system_inflammati2.07030382
31MP0002876_abnormal_thyroid_physiology2.01134851
32* MP0002420_abnormal_adaptive_immunity1.96903772
33* MP0001819_abnormal_immune_cell1.96043083
34MP0008872_abnormal_physiological_respon1.93456448
35MP0000372_irregular_coat_pigmentation1.87893614
36MP0003763_abnormal_thymus_physiology1.76384233
37MP0006082_CNS_inflammation1.75703579
38MP0000604_amyloidosis1.74425663
39MP0002396_abnormal_hematopoietic_system1.71581478
40MP0005367_renal/urinary_system_phenotyp1.71061994
41MP0000516_abnormal_urinary_system1.71061994
42* MP0002398_abnormal_bone_marrow1.68918032
43MP0010155_abnormal_intestine_physiology1.68736389
44MP0003786_premature_aging1.68190812
45MP0003329_amyloid_beta_deposits1.67631053
46MP0003252_abnormal_bile_duct1.67027156
47MP0000465_gastrointestinal_hemorrhage1.66492858
48MP0001845_abnormal_inflammatory_respons1.63905403
49MP0003011_delayed_dark_adaptation1.60886118
50MP0004947_skin_inflammation1.60659747
51MP0010386_abnormal_urinary_bladder1.58892616
52MP0003718_maternal_effect1.56577002
53MP0005464_abnormal_platelet_physiology1.56258804
54MP0000427_abnormal_hair_cycle1.55550197
55* MP0000716_abnormal_immune_system1.52290292
56MP0010352_gastrointestinal_tract_polyps1.52207114
57MP0004808_abnormal_hematopoietic_stem1.51963922
58MP0005410_abnormal_fertilization1.51937557
59MP0002928_abnormal_bile_duct1.51906319
60MP0008469_abnormal_protein_level1.51463516
61MP0008875_abnormal_xenobiotic_pharmacok1.49264152
62MP0000569_abnormal_digit_pigmentation1.48542353
63MP0001533_abnormal_skeleton_physiology1.46504590
64MP0008058_abnormal_DNA_repair1.44994758
65MP0003300_gastrointestinal_ulcer1.44526217
66* MP0000689_abnormal_spleen_morphology1.43410588
67MP0002006_tumorigenesis1.40424679
68MP0006072_abnormal_retinal_apoptosis1.39806161
69MP0002722_abnormal_immune_system1.39322103
70MP0005083_abnormal_biliary_tract1.39223955
71MP0002837_dystrophic_cardiac_calcinosis1.35729955
72MP0010678_abnormal_skin_adnexa1.35270796
73MP0006054_spinal_hemorrhage1.34672631
74* MP0002429_abnormal_blood_cell1.34043439
75MP0002166_altered_tumor_susceptibility1.32975589
76MP0003448_altered_tumor_morphology1.30201231
77MP0002132_abnormal_respiratory_system1.30005285
78MP0005389_reproductive_system_phenotype1.27845251
79MP0003828_pulmonary_edema1.27537769
80MP0009697_abnormal_copulation1.27021025
81MP0005551_abnormal_eye_electrophysiolog1.27002254
82MP0000490_abnormal_crypts_of1.26564750
83MP0005397_hematopoietic_system_phenotyp1.26472515
84MP0001545_abnormal_hematopoietic_system1.26472515
85MP0000858_altered_metastatic_potential1.25511506
86MP0009278_abnormal_bone_marrow1.24625571
87MP0001764_abnormal_homeostasis1.18026883
88MP0005253_abnormal_eye_physiology1.16275988
89MP0000343_altered_response_to1.15460224
90MP0008007_abnormal_cellular_replicative1.14922354
91MP0005220_abnormal_exocrine_pancreas1.13219137
92MP0002254_reproductive_system_inflammat1.12021971
93MP0002933_joint_inflammation1.11752292
94MP0004510_myositis1.10498313
95MP0003566_abnormal_cell_adhesion1.09904507
96MP0005023_abnormal_wound_healing1.08896102
97* MP0000703_abnormal_thymus_morphology1.08216949
98MP0004484_altered_response_of1.07385060
99MP0003693_abnormal_embryo_hatching1.05376265
100MP0001851_eye_inflammation1.03332030
101MP0002282_abnormal_trachea_morphology1.03109500
102MP0001873_stomach_inflammation1.03007657
103MP0000647_abnormal_sebaceous_gland1.02999239
104MP0005058_abnormal_lysosome_morphology1.02139367
105MP0009764_decreased_sensitivity_to1.01891061
106MP0005395_other_phenotype1.01817548
107MP0004043_abnormal_pH_regulation1.01585446
108MP0003866_abnormal_defecation0.99308926
109MP0009379_abnormal_foot_pigmentation0.98079262
110MP0005085_abnormal_gallbladder_physiolo0.97545376
111MP0003186_abnormal_redox_activity0.96741471
112MP0002160_abnormal_reproductive_system0.96001689
113MP0008057_abnormal_DNA_replication0.94939074
114MP0001919_abnormal_reproductive_system0.94560748
115MP0005360_urolithiasis0.94469878
116MP0003453_abnormal_keratinocyte_physiol0.94049561
117MP0005076_abnormal_cell_differentiation0.91489162
118MP0006292_abnormal_olfactory_placode0.89217863
119MP0005647_abnormal_sex_gland0.89020170
120MP0003787_abnormal_imprinting0.88392172
121MP0005332_abnormal_amino_acid0.88102220
122MP0000249_abnormal_blood_vessel0.87232184
123MP0009780_abnormal_chondrocyte_physiolo0.87144765
124MP0002693_abnormal_pancreas_physiology0.86459748
125MP0006036_abnormal_mitochondrial_physio0.85388862
126MP0005390_skeleton_phenotype0.85194506
127MP0005636_abnormal_mineral_homeostasis0.84437981
128MP0005167_abnormal_blood-brain_barrier0.82629629
129MP0005174_abnormal_tail_pigmentation0.82549240
130MP0003279_aneurysm0.80193329
131MP0002998_abnormal_bone_remodeling0.79625855
132MP0004957_abnormal_blastocyst_morpholog0.78681409
133MP0008438_abnormal_cutaneous_collagen0.78287839
134MP0005310_abnormal_salivary_gland0.77995162
135MP0001485_abnormal_pinna_reflex0.77280784
136MP0009763_increased_sensitivity_to0.76319496
137MP0001119_abnormal_female_reproductive0.76076925
138MP0002019_abnormal_tumor_incidence0.75806667
139MP0005365_abnormal_bile_salt0.75324376
140MP0000538_abnormal_urinary_bladder0.75185300
141MP0003077_abnormal_cell_cycle0.74156464
142MP0005388_respiratory_system_phenotype0.72687474
143MP0002133_abnormal_respiratory_system0.72687474
144MP0000230_abnormal_systemic_arterial0.72173147
145MP0005646_abnormal_pituitary_gland0.71030047
146MP0001756_abnormal_urination0.70936937
147MP0002168_other_aberrant_phenotype0.70492040
148MP0001542_abnormal_bone_strength0.70180526
149MP0000383_abnormal_hair_follicle0.69585976
150MP0001243_abnormal_dermal_layer0.69461195
151MP0005075_abnormal_melanosome_morpholog0.69041639
152MP0009765_abnormal_xenobiotic_induced0.68570229
153MP0001216_abnormal_epidermal_layer0.68355873
154MP0003091_abnormal_cell_migration0.68003068
155MP0003646_muscle_fatigue0.67332758
156MP0005166_decreased_susceptibility_to0.66766039
157MP0003075_altered_response_to0.66222813
158MP0002751_abnormal_autonomic_nervous0.65588046
159MP0002060_abnormal_skin_morphology0.64152041
160MP0002277_abnormal_respiratory_mucosa0.63661503
161MP0010234_abnormal_vibrissa_follicle0.62016758
162MP0003705_abnormal_hypodermis_morpholog0.61414491
163MP0005319_abnormal_enzyme/_coenzyme0.60409904
164MP0000609_abnormal_liver_physiology0.59163266
165MP0003795_abnormal_bone_structure0.58423982
166MP0003806_abnormal_nucleotide_metabolis0.58340947
167MP0008260_abnormal_autophagy0.58131355

Predicted human phenotypes

RankGene SetZ-score
1Mediastinal lymphadenopathy (HP:0100721)5.72062806
2Parakeratosis (HP:0001036)5.39571861
3Recurrent abscess formation (HP:0002722)5.13265071
4Eczematoid dermatitis (HP:0000976)4.80597190
5Recurrent bacterial skin infections (HP:0005406)4.29160540
6Abnormality of the peritoneum (HP:0002585)4.18591193
7Elevated erythrocyte sedimentation rate (HP:0003565)4.07491350
8Severe combined immunodeficiency (HP:0004430)3.93950770
9Abnormality of placental membranes (HP:0011409)3.93662634
10Amniotic constriction ring (HP:0009775)3.93662634
11Recurrent gram-negative bacterial infections (HP:0005420)3.77850944
12Stomatitis (HP:0010280)3.74013496
13Chronic otitis media (HP:0000389)3.66136820
14Pancreatic cysts (HP:0001737)3.60882010
15Abnormality of T cell physiology (HP:0011840)3.59155665
16Combined immunodeficiency (HP:0005387)3.58700126
17Myositis (HP:0100614)3.56644320
18Meningitis (HP:0001287)3.48660042
19Type 2 muscle fiber atrophy (HP:0003554)3.36368412
20Muscle fiber atrophy (HP:0100295)3.35868310
21Granulocytopenia (HP:0001913)3.24585185
22Abnormality of macrophages (HP:0004311)3.23031845
23Pancreatic fibrosis (HP:0100732)3.19871247
24Cellulitis (HP:0100658)3.18571940
25Hypothermia (HP:0002045)3.17683040
26True hermaphroditism (HP:0010459)3.11405625
27Methylmalonic acidemia (HP:0002912)3.08142638
28Recurrent fungal infections (HP:0002841)3.06944916
29Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.03685704
30Recurrent viral infections (HP:0004429)2.98908644
31Pustule (HP:0200039)2.98513607
32Abnormality of T cells (HP:0002843)2.89898271
33Orchitis (HP:0100796)2.84781766
34Conjunctival hamartoma (HP:0100780)2.83100436
35Recurrent skin infections (HP:0001581)2.81565702
36Progressive macrocephaly (HP:0004481)2.76324552
37Abolished electroretinogram (ERG) (HP:0000550)2.74568434
38Chronic obstructive pulmonary disease (HP:0006510)2.70103492
39Obstructive lung disease (HP:0006536)2.70103492
40Abnormality of the pleura (HP:0002103)2.68606950
41Abnormality of the renal cortex (HP:0011035)2.68121647
42Abnormal rod and cone electroretinograms (HP:0008323)2.65950626
43Acute necrotizing encephalopathy (HP:0006965)2.64397047
44Gingivitis (HP:0000230)2.61648575
45Pendular nystagmus (HP:0012043)2.61369889
46Systemic lupus erythematosus (HP:0002725)2.60768661
47Absent rod-and cone-mediated responses on ERG (HP:0007688)2.59638329
48Attenuation of retinal blood vessels (HP:0007843)2.56979177
49Abnormality of cells of the lymphoid lineage (HP:0012140)2.56956224
50Interstitial pulmonary disease (HP:0006530)2.56942357
51Leukocytosis (HP:0001974)2.56673729
52Autoimmune thrombocytopenia (HP:0001973)2.56488228
53Lymphopenia (HP:0001888)2.55758915
54Methylmalonic aciduria (HP:0012120)2.55269639
55Vasculitis (HP:0002633)2.54968005
56Mitochondrial inheritance (HP:0001427)2.54684576
57Hamartoma of the eye (HP:0010568)2.54638869
58Increased CSF lactate (HP:0002490)2.53903917
59Weak cry (HP:0001612)2.51254663
60Thyroiditis (HP:0100646)2.50667881
61Congenital, generalized hypertrichosis (HP:0004540)2.48612231
62Glomerulonephritis (HP:0000099)2.48203997
63Type I transferrin isoform profile (HP:0003642)2.47269026
64Abnormality of midbrain morphology (HP:0002418)2.46339102
65Molar tooth sign on MRI (HP:0002419)2.46339102
66IgM deficiency (HP:0002850)2.44130440
67Aplasia/hypoplasia of the uterus (HP:0008684)2.43198566
68Optic neuritis (HP:0100653)2.42609190
69Retrobulbar optic neuritis (HP:0100654)2.42609190
70Vacuolated lymphocytes (HP:0001922)2.40661018
713-Methylglutaconic aciduria (HP:0003535)2.40112511
72Congenital stationary night blindness (HP:0007642)2.38597160
73Thrombocytosis (HP:0001894)2.36700190
74Nonprogressive disorder (HP:0003680)2.36254252
75Skin ulcer (HP:0200042)2.36186638
76Acute encephalopathy (HP:0006846)2.36056670
77Fatigable weakness (HP:0003473)2.35307822
78Abnormality of the neuromuscular junction (HP:0003398)2.35307822
79Furrowed tongue (HP:0000221)2.34848105
80Hypoplasia of the uterus (HP:0000013)2.34847796
81Hematochezia (HP:0002573)2.34448224
82Abnormality of vitamin B metabolism (HP:0004340)2.33050283
83Petechiae (HP:0000967)2.32578170
84Hypoproteinemia (HP:0003075)2.32327876
85Recurrent bronchitis (HP:0002837)2.30817994
86Reduced antithrombin III activity (HP:0001976)2.30571527
87Hepatocellular necrosis (HP:0001404)2.28512545
88Metaphyseal dysplasia (HP:0100255)2.28331370
89Abnormality of aspartate family amino acid metabolism (HP:0010899)2.27694534
90Increased corneal curvature (HP:0100692)2.26772908
91Keratoconus (HP:0000563)2.26772908
92Urticaria (HP:0001025)2.25196617
93Prostate neoplasm (HP:0100787)2.24735719
94Joint swelling (HP:0001386)2.24358369
95Azoospermia (HP:0000027)2.23936201
96Decreased central vision (HP:0007663)2.23796660
97Osteomyelitis (HP:0002754)2.23563999
98Sepsis (HP:0100806)2.21197774
99Stenosis of the external auditory canal (HP:0000402)2.19099381
100Abnormality of cells of the erythroid lineage (HP:0012130)2.16797979
101Abnormality of macular pigmentation (HP:0008002)2.16161802
102Vertebral compression fractures (HP:0002953)2.14698216
103Nephronophthisis (HP:0000090)2.14309611
104Abnormality of T cell number (HP:0011839)2.14186396
105Panhypogammaglobulinemia (HP:0003139)2.13971690
106Posterior subcapsular cataract (HP:0007787)2.12369632
107Microglossia (HP:0000171)2.11907727
108Hepatic necrosis (HP:0002605)2.11409353
109Tubular atrophy (HP:0000092)2.11254856
110Renal cortical cysts (HP:0000803)2.11220768
111Abnormality of the renal medulla (HP:0100957)2.10018301
112Periodontitis (HP:0000704)2.09694551
113Osteolytic defects of the phalanges of the hand (HP:0009771)2.08857364
114Osteolytic defects of the hand bones (HP:0009699)2.08857364
115Abnormal mitochondria in muscle tissue (HP:0008316)2.08418752
116Pulmonary infiltrates (HP:0002113)2.08192227
117Congenital sensorineural hearing impairment (HP:0008527)2.08056585
118Agammaglobulinemia (HP:0004432)2.06368837
119Abnormality of the vitamin B12 metabolism (HP:0004341)2.05852898
120Disproportionate short-trunk short stature (HP:0003521)2.05724645
121Skin rash (HP:0000988)2.05648964
122Abnormal number of erythroid precursors (HP:0012131)2.05461040
123Gastrointestinal infarctions (HP:0005244)2.05236474
124Meningioma (HP:0002858)2.04429671
125Spontaneous hematomas (HP:0007420)2.04277464
126Abnormal spermatogenesis (HP:0008669)2.04010163
127Severe visual impairment (HP:0001141)2.02563289
128Congenital ichthyosiform erythroderma (HP:0007431)2.00749150
129T lymphocytopenia (HP:0005403)2.00733737
130Gastrointestinal stroma tumor (HP:0100723)2.00517680
131Recurrent cutaneous fungal infections (HP:0011370)2.00261553
132Chronic mucocutaneous candidiasis (HP:0002728)2.00261553
133Chorioretinal atrophy (HP:0000533)2.00212763
134Abnormality of the nasal mucosa (HP:0000433)1.99992546
135Lipid accumulation in hepatocytes (HP:0006561)1.99666636
136Abnormality of the prostate (HP:0008775)1.98166169
137Peritonitis (HP:0002586)1.96053623
138Hemiplegia (HP:0002301)1.95837984
139Aplasia/Hypoplasia of the tongue (HP:0010295)1.94659723
140Abnormalities of placenta or umbilical cord (HP:0001194)1.93378054
141Epistaxis (HP:0000421)1.93362327
142Decreased electroretinogram (ERG) amplitude (HP:0000654)1.92551765
143Increased neuronal autofluorescent lipopigment (HP:0002074)1.92279787
144Arterial thrombosis (HP:0004420)1.91923840
145Increased IgM level (HP:0003496)1.91581700
146Nasal polyposis (HP:0100582)1.91352950
147Increased hepatocellular lipid droplets (HP:0006565)1.91341077
148Short tibia (HP:0005736)1.90997988
149Eosinophilia (HP:0001880)1.90452492
150Medial flaring of the eyebrow (HP:0010747)1.90136055
151Hemoptysis (HP:0002105)1.89972039
152Thick nail (HP:0001805)1.89385227
153Abnormal delayed hypersensitivity skin test (HP:0002963)1.89094876
154Abnormality of iron homeostasis (HP:0011031)1.88857036
155Emphysema (HP:0002097)1.88709965
156Gaze-evoked nystagmus (HP:0000640)1.88344277
157Nail dystrophy (HP:0008404)1.87876891
158Aplasia/Hypoplasia of the tibia (HP:0005772)1.86683637
159Adrenal hypoplasia (HP:0000835)1.86616008
160Easy fatigability (HP:0003388)1.86288547
161Abnormal pancreas size (HP:0012094)1.85680232
162Inflammation of the large intestine (HP:0002037)1.84430655
163Abnormality of the pons (HP:0007361)1.84417340
164Stomach cancer (HP:0012126)1.84210293
165Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.83598119
166Aplasia/Hypoplasia of the thymus (HP:0010515)1.83518964
167Oral leukoplakia (HP:0002745)1.83430751
168Tongue fasciculations (HP:0001308)1.83190574
169Recurrent pneumonia (HP:0006532)1.83023067
170Abnormality of methionine metabolism (HP:0010901)1.82847072
171Abnormal biliary tract morphology (HP:0012440)1.82835326
172Constricted visual fields (HP:0001133)1.81124432
173Breast carcinoma (HP:0003002)1.80728249
174Exocrine pancreatic insufficiency (HP:0001738)1.80471250
175Abnormality of urine glucose concentration (HP:0011016)1.79816497
176Glycosuria (HP:0003076)1.79816497
177Abnormality of chromosome stability (HP:0003220)1.78594688
178Palpitations (HP:0001962)1.78214403
179Hypoalbuminemia (HP:0003073)1.77896964
180Abnormal albumin level (HP:0012116)1.77896964
181Small hand (HP:0200055)1.77806852
182Albinism (HP:0001022)1.77391526
183Progressive inability to walk (HP:0002505)1.76868327
184Hypoplasia of the fovea (HP:0007750)1.75718007
185Aplasia/Hypoplasia of the fovea (HP:0008060)1.75718007
186Renal Fanconi syndrome (HP:0001994)1.75275095
187Optic disc pallor (HP:0000543)1.74770904
188Increased serum lactate (HP:0002151)1.74600353
189Abnormality of the nasal septum (HP:0000419)1.74220508
190Abnormality of B cell number (HP:0010975)1.71820792
191Abnormality of the phalanges of the 2nd finger (HP:0009541)1.70644384
192Male pseudohermaphroditism (HP:0000037)1.69261896
193IgG deficiency (HP:0004315)1.65603866
194Median cleft lip (HP:0000161)1.65325441
195Sparse eyelashes (HP:0000653)1.64483902
196Sensory axonal neuropathy (HP:0003390)1.64120361
197Cerebral edema (HP:0002181)1.64008733

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MUSK6.14685109
2FRK4.53474139
3MAP4K13.33402522
4MST43.06364914
5TRIM282.91380136
6MAP4K22.81896969
7GRK12.73549480
8MAP3K142.72290485
9NUAK12.52824558
10IRAK42.52242208
11TBK12.35455915
12MAP3K122.12307349
13BMPR1B2.09328988
14NME22.08466874
15STK392.08297121
16JAK32.08047795
17TYK22.03946517
18LMTK22.03557986
19PIM22.02736816
20ADRBK21.97411195
21STK101.89766483
22KIT1.88734424
23BCR1.85762025
24TEC1.83501312
25TXK1.82309303
26SIK31.78954017
27* IKBKB1.78315942
28ZAK1.77496423
29BLK1.77271816
30STK241.74842639
31OXSR11.73856208
32IRAK31.73138673
33ERBB31.72388330
34STK38L1.71728469
35RPS6KA41.66835322
36BRSK21.66470097
37TGFBR21.64970156
38ERN11.56110940
39WNK31.52065365
40PLK21.51200565
41TNIK1.50822837
42BTK1.49665988
43IKBKE1.48219778
44VRK21.48094539
45FER1.45531601
46NLK1.45197093
47LRRK21.44127815
48ITK1.43290633
49INSRR1.41159028
50FLT31.38677913
51PTK61.35593422
52MAP3K111.34992035
53MAP3K31.32436274
54ZAP701.31591794
55MAP2K31.22362236
56KDR1.21962296
57NEK91.19846574
58CHUK1.17438065
59TAF11.11845158
60PLK31.11348475
61PKN21.11026865
62CSF1R1.10258412
63PIM11.08845619
64STK31.08594481
65TAOK31.08345480
66PBK1.07155185
67CSK1.06855709
68EIF2AK31.04645814
69BUB11.04034555
70BMPR21.03112037
71EIF2AK11.03050085
72MAP3K101.01534871
73BCKDK0.99739882
74LCK0.98712966
75PAK30.98441108
76PRKCE0.98435896
77TGFBR10.97630958
78SYK0.97070620
79RIPK40.96110522
80PTK2B0.91729161
81STK160.91174867
82CLK10.90648137
83FGFR40.89668057
84CSNK1G10.87492448
85DYRK30.86729210
86GRK60.85540492
87HCK0.84502923
88JAK10.83596183
89CSNK1G30.82701048
90EPHA20.82511586
91EPHB10.81619484
92LYN0.81065220
93PDK20.80909753
94ACVR1B0.79599289
95MAP3K80.78519144
96MKNK20.78499082
97PINK10.77141329
98TLK10.75667917
99PRKCI0.75661318
100PAK40.73953961
101MKNK10.73635735
102MYLK0.73309323
103PRKG20.72561485
104CSNK1A1L0.72402138
105MAP3K130.71069906
106MATK0.68752436
107TESK10.68167692
108WNK40.67254470
109CSNK1G20.66800016
110AKT30.66163371
111PRKCQ0.65569944
112CASK0.63030000
113JAK20.62793412
114GRK70.62694288
115TESK20.62577880
116ADRBK10.62496667
117TAOK20.62417791
118NEK20.61796075
119WEE10.60550294
120STK40.57158491
121ERBB40.54989488
122MARK30.53159720
123MAP3K40.52002459
124RPS6KB20.50649240
125TRPM70.50083514
126TRIB30.49353544
127EIF2AK20.49004648
128EPHA30.48846219
129TTN0.48269206
130MAPKAPK20.47877593
131LIMK10.45544346
132TSSK60.45392689
133VRK10.44447200
134TIE10.44173288
135ABL10.41930933
136ABL20.41555309
137RPS6KA50.40460315
138FGFR20.39249094
139PAK10.39105408
140GRK50.38959647
141IGF1R0.38623964
142MAPK150.38104736
143MAP3K10.37685254
144EEF2K0.37015795
145SRPK10.37002451
146FGFR30.34873744
147PASK0.33965071
148PLK40.33958293
149CDK60.33956004
150IRAK10.33714240
151CAMKK20.33605347
152PIK3CG0.32958325
153MST1R0.32854889
154ROCK10.32434216
155DAPK10.31441146
156PRKCD0.31373335
157DYRK1B0.31259300
158MAPK40.31204586
159RAF10.31160689
160MAPKAPK30.30075056
161EGFR0.30074340
162PLK10.26344534
163PIK3CA0.25218816
164CSNK1A10.25088137
165MAPK130.24260835
166MAP2K70.23666050

Predicted pathways (KEGG)

RankGene SetZ-score
1Leishmaniasis_Homo sapiens_hsa051402.81842867
2Sulfur metabolism_Homo sapiens_hsa009202.72403622
3* NF-kappa B signaling pathway_Homo sapiens_hsa040642.42034162
4Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.38125853
5Maturity onset diabetes of the young_Homo sapiens_hsa049502.28850851
6Proteasome_Homo sapiens_hsa030502.24308267
7Cytosolic DNA-sensing pathway_Homo sapiens_hsa046232.23495108
8Base excision repair_Homo sapiens_hsa034102.23392406
9Oxidative phosphorylation_Homo sapiens_hsa001902.21249671
10Legionellosis_Homo sapiens_hsa051342.15249555
11Primary immunodeficiency_Homo sapiens_hsa053402.13633967
12DNA replication_Homo sapiens_hsa030302.10317502
13Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.05997871
14Ribosome_Homo sapiens_hsa030102.05578825
15Selenocompound metabolism_Homo sapiens_hsa004502.04317072
16Basal transcription factors_Homo sapiens_hsa030221.97408226
17Graft-versus-host disease_Homo sapiens_hsa053321.96549260
18Staphylococcus aureus infection_Homo sapiens_hsa051501.94001064
19Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.92972276
20Malaria_Homo sapiens_hsa051441.90470735
21Phototransduction_Homo sapiens_hsa047441.87860086
22Measles_Homo sapiens_hsa051621.87778861
23Osteoclast differentiation_Homo sapiens_hsa043801.87741716
24Allograft rejection_Homo sapiens_hsa053301.86606561
25Caffeine metabolism_Homo sapiens_hsa002321.85863539
26Antigen processing and presentation_Homo sapiens_hsa046121.85635192
27Toll-like receptor signaling pathway_Homo sapiens_hsa046201.76969215
28Pertussis_Homo sapiens_hsa051331.75829157
29Apoptosis_Homo sapiens_hsa042101.70367066
30Influenza A_Homo sapiens_hsa051641.67658793
31NOD-like receptor signaling pathway_Homo sapiens_hsa046211.65743532
32Nitrogen metabolism_Homo sapiens_hsa009101.63237103
33Hematopoietic cell lineage_Homo sapiens_hsa046401.59303149
34Herpes simplex infection_Homo sapiens_hsa051681.59109773
35Intestinal immune network for IgA production_Homo sapiens_hsa046721.59024418
36* B cell receptor signaling pathway_Homo sapiens_hsa046621.57783523
37Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.56508638
38RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.53416988
39Shigellosis_Homo sapiens_hsa051311.53343239
40Toxoplasmosis_Homo sapiens_hsa051451.52507844
41Parkinsons disease_Homo sapiens_hsa050121.49845397
42RNA degradation_Homo sapiens_hsa030181.49013471
43Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.46700193
44TNF signaling pathway_Homo sapiens_hsa046681.44584715
45Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.44488454
46Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.40961887
47Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.40952817
48Propanoate metabolism_Homo sapiens_hsa006401.39293281
49Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.34875041
50SNARE interactions in vesicular transport_Homo sapiens_hsa041301.30798802
51Leukocyte transendothelial migration_Homo sapiens_hsa046701.29909663
52Mineral absorption_Homo sapiens_hsa049781.29766544
53Tryptophan metabolism_Homo sapiens_hsa003801.28207281
54Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.26205422
55* Tuberculosis_Homo sapiens_hsa051521.24951605
56p53 signaling pathway_Homo sapiens_hsa041151.24417188
57Salmonella infection_Homo sapiens_hsa051321.23729664
58Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.23497413
59Jak-STAT signaling pathway_Homo sapiens_hsa046301.22686460
60Fanconi anemia pathway_Homo sapiens_hsa034601.22673077
61Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.21854780
62Asthma_Homo sapiens_hsa053101.19235640
63Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.19114134
64Epstein-Barr virus infection_Homo sapiens_hsa051691.15926369
65Viral carcinogenesis_Homo sapiens_hsa052031.15388298
66Chemokine signaling pathway_Homo sapiens_hsa040621.14243462
67Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.12761326
68Collecting duct acid secretion_Homo sapiens_hsa049661.12460495
69Hepatitis C_Homo sapiens_hsa051601.09025369
70Hepatitis B_Homo sapiens_hsa051611.08973050
71Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.08816767
72Chemical carcinogenesis_Homo sapiens_hsa052041.08739277
73Glutathione metabolism_Homo sapiens_hsa004801.07025129
74Circadian rhythm_Homo sapiens_hsa047101.06863984
75* T cell receptor signaling pathway_Homo sapiens_hsa046601.06672063
76Mismatch repair_Homo sapiens_hsa034301.06311985
77AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.06086255
78Acute myeloid leukemia_Homo sapiens_hsa052211.05715024
79Pentose and glucuronate interconversions_Homo sapiens_hsa000401.05427193
80Viral myocarditis_Homo sapiens_hsa054161.05262400
81Spliceosome_Homo sapiens_hsa030401.02092495
82Transcriptional misregulation in cancer_Homo sapiens_hsa052021.01849891
83Linoleic acid metabolism_Homo sapiens_hsa005911.01667101
84Ether lipid metabolism_Homo sapiens_hsa005651.01625127
85Rheumatoid arthritis_Homo sapiens_hsa053231.00016130
86Peroxisome_Homo sapiens_hsa041460.99365119
87Small cell lung cancer_Homo sapiens_hsa052220.98954796
88Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.98668391
89Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.97863727
90Fatty acid elongation_Homo sapiens_hsa000620.96958112
91Glycosaminoglycan degradation_Homo sapiens_hsa005310.94712135
92alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.94554014
93Retinol metabolism_Homo sapiens_hsa008300.92139502
94Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.91756491
95Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.91572793
96Steroid hormone biosynthesis_Homo sapiens_hsa001400.91391676
97Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.91358490
98Butanoate metabolism_Homo sapiens_hsa006500.90692666
99Steroid biosynthesis_Homo sapiens_hsa001000.90396572
100Alzheimers disease_Homo sapiens_hsa050100.88076799
101Huntingtons disease_Homo sapiens_hsa050160.85966663
102Primary bile acid biosynthesis_Homo sapiens_hsa001200.85109399
103Regulation of autophagy_Homo sapiens_hsa041400.84155583
104HTLV-I infection_Homo sapiens_hsa051660.83952759
105Sphingolipid metabolism_Homo sapiens_hsa006000.83537108
106Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.82411439
107Pyrimidine metabolism_Homo sapiens_hsa002400.80947085
108Type I diabetes mellitus_Homo sapiens_hsa049400.80576214
109African trypanosomiasis_Homo sapiens_hsa051430.80570701
110Chronic myeloid leukemia_Homo sapiens_hsa052200.80130493
111Other glycan degradation_Homo sapiens_hsa005110.79154732
112Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.79061767
113Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.78106740
114RNA polymerase_Homo sapiens_hsa030200.77646739
115Platelet activation_Homo sapiens_hsa046110.77022451
116Nucleotide excision repair_Homo sapiens_hsa034200.76817294
117Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.76069863
118Homologous recombination_Homo sapiens_hsa034400.73982567
119N-Glycan biosynthesis_Homo sapiens_hsa005100.73962658
120Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.72395628
121Phagosome_Homo sapiens_hsa041450.72393211
122Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.72280063
123Autoimmune thyroid disease_Homo sapiens_hsa053200.71622024
124Amoebiasis_Homo sapiens_hsa051460.71210297
125Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.67335341
126Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.66923376
127Pancreatic cancer_Homo sapiens_hsa052120.63921477
128Lysosome_Homo sapiens_hsa041420.62590356
129Protein export_Homo sapiens_hsa030600.61154052
130Cell cycle_Homo sapiens_hsa041100.60661039
131Arachidonic acid metabolism_Homo sapiens_hsa005900.57559334
132Thyroid cancer_Homo sapiens_hsa052160.57419016
133Purine metabolism_Homo sapiens_hsa002300.56815100
134Metabolic pathways_Homo sapiens_hsa011000.55747330
135Systemic lupus erythematosus_Homo sapiens_hsa053220.55156482
136MicroRNAs in cancer_Homo sapiens_hsa052060.54309653
137Drug metabolism - other enzymes_Homo sapiens_hsa009830.54011536
138RNA transport_Homo sapiens_hsa030130.53552944
139Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.52486973
140Folate biosynthesis_Homo sapiens_hsa007900.45572429
141Proteoglycans in cancer_Homo sapiens_hsa052050.45281055
142Vitamin digestion and absorption_Homo sapiens_hsa049770.44497986
143HIF-1 signaling pathway_Homo sapiens_hsa040660.43588922
144Neurotrophin signaling pathway_Homo sapiens_hsa047220.42160385
145Insulin resistance_Homo sapiens_hsa049310.40158588
146TGF-beta signaling pathway_Homo sapiens_hsa043500.39566098
147Pentose phosphate pathway_Homo sapiens_hsa000300.39383815
148One carbon pool by folate_Homo sapiens_hsa006700.38297986
149FoxO signaling pathway_Homo sapiens_hsa040680.37933519
150Dorso-ventral axis formation_Homo sapiens_hsa043200.37471655
151Glycerolipid metabolism_Homo sapiens_hsa005610.35360608
152Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.34349758
153Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.34211992
154Non-homologous end-joining_Homo sapiens_hsa034500.33874963
155Starch and sucrose metabolism_Homo sapiens_hsa005000.33816793
156ECM-receptor interaction_Homo sapiens_hsa045120.33614006
157Regulation of actin cytoskeleton_Homo sapiens_hsa048100.33561773
158Prostate cancer_Homo sapiens_hsa052150.32964074
159Pathways in cancer_Homo sapiens_hsa052000.32151900
160beta-Alanine metabolism_Homo sapiens_hsa004100.29851201

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