LGALS3BP

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





Description: The galectins are a family of beta-galactoside-binding proteins implicated in modulating cell-cell and cell-matrix interactions. LGALS3BP has been found elevated in the serum of patients with cancer and in those infected by the human immunodeficiency virus (HIV). It appears to be implicated in immune response associated with natural killer (NK) and lymphokine-activated killer (LAK) cell cytotoxicity. Using fluorescence in situ hybridization the full length 90K cDNA has been localized to chromosome 17q25. The native protein binds specifically to a human macrophage-associated lectin known as Mac-2 and also binds galectin 1. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)6.45623900
2antigen processing and presentation of endogenous peptide antigen (GO:0002483)6.45623900
3antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.87612139
4antigen processing and presentation of endogenous antigen (GO:0019883)5.62343067
5Golgi transport vesicle coating (GO:0048200)5.05772445
6COPI coating of Golgi vesicle (GO:0048205)5.05772445
7desmosome organization (GO:0002934)4.68168282
8response to type I interferon (GO:0034340)4.29399090
9type I interferon signaling pathway (GO:0060337)4.26871893
10cellular response to type I interferon (GO:0071357)4.26871893
11modulation by symbiont of host defense response (GO:0052031)4.20070453
12modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.20070453
13modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.20070453
14positive regulation by organism of defense response of other organism involved in symbiotic interact4.20070453
15modulation by symbiont of host immune response (GO:0052553)4.20070453
16positive regulation by symbiont of host defense response (GO:0052509)4.20070453
17positive regulation of interferon-alpha production (GO:0032727)4.14410410
18antigen processing and presentation via MHC class Ib (GO:0002475)4.01374451
19regulation of interferon-beta biosynthetic process (GO:0045357)3.94429953
20regulation of interferon-alpha production (GO:0032647)3.91723031
21response to interferon-alpha (GO:0035455)3.90570225
22hemidesmosome assembly (GO:0031581)3.83280781
23signal peptide processing (GO:0006465)3.77491413
24basement membrane organization (GO:0071711)3.77348606
25protein maturation by protein folding (GO:0022417)3.69732846
26regulation of cholesterol homeostasis (GO:2000188)3.69308708
27regulation of extracellular matrix disassembly (GO:0010715)3.68317128
28proline biosynthetic process (GO:0006561)3.64380168
29response to interferon-beta (GO:0035456)3.62907764
30regulation of cholesterol biosynthetic process (GO:0045540)3.61978562
31skin morphogenesis (GO:0043589)3.59274969
32barbed-end actin filament capping (GO:0051016)3.56686948
33NADH metabolic process (GO:0006734)3.53516108
34immunoglobulin mediated immune response (GO:0016064)3.52803034
35L-alpha-amino acid transmembrane transport (GO:1902475)3.52224343
36regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.42279753
37regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.37408847
38production of molecular mediator involved in inflammatory response (GO:0002532)3.37335387
39positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.34741612
40maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.22643437
41glucose 6-phosphate metabolic process (GO:0051156)3.16422000
42epithelial cell-cell adhesion (GO:0090136)3.16019378
43retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.13465787
44neutrophil activation involved in immune response (GO:0002283)3.11479424
45GDP-mannose metabolic process (GO:0019673)3.07137709
46positive regulation of gamma-delta T cell activation (GO:0046645)3.06050854
47macrophage activation involved in immune response (GO:0002281)3.05532994
48proline metabolic process (GO:0006560)3.04929942
49interferon-gamma-mediated signaling pathway (GO:0060333)3.04919937
50regulation of cholesterol metabolic process (GO:0090181)3.04154293
514-hydroxyproline metabolic process (GO:0019471)3.03592771
52positive regulation of pseudopodium assembly (GO:0031274)3.02272624
53regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.00621310
54regulation of complement activation (GO:0030449)3.00570581
55cellular response to interferon-beta (GO:0035458)3.00554238
56regulation of type I interferon-mediated signaling pathway (GO:0060338)2.99831059
57regulation of apoptotic cell clearance (GO:2000425)2.97946763
58negative regulation of viral genome replication (GO:0045071)2.97800000
59semaphorin-plexin signaling pathway (GO:0071526)2.94438304
60negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.94283532
61peptidyl-glutamic acid carboxylation (GO:0017187)2.93807732
62protein carboxylation (GO:0018214)2.93807732
63protein retention in ER lumen (GO:0006621)2.93499044
64response to peptidoglycan (GO:0032494)2.92543003
65JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)2.92223137
66positive regulation of interferon-beta production (GO:0032728)2.91941499
67bundle of His cell to Purkinje myocyte communication (GO:0086069)2.91890058
68actin filament depolymerization (GO:0030042)2.91004474
69positive regulation of natural killer cell differentiation (GO:0032825)2.90341600
70regulation of protein activation cascade (GO:2000257)2.90012425
71peptidyl-proline hydroxylation (GO:0019511)2.89476059
72response to host immune response (GO:0052572)2.88558537
73response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.88558537
74regulation of metalloenzyme activity (GO:0048552)2.88527859
75sequestering of metal ion (GO:0051238)2.87283256
76branching involved in mammary gland duct morphogenesis (GO:0060444)2.86910481
77fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.86163369
78endothelial cell morphogenesis (GO:0001886)2.85363221
79endothelial cell chemotaxis (GO:0035767)2.83554567
80endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.81620041
81positive regulation of antigen processing and presentation (GO:0002579)2.80069357
82regulation of extracellular matrix organization (GO:1903053)2.78031364
83protein hydroxylation (GO:0018126)2.77730805
84adhesion of symbiont to host (GO:0044406)2.75813621
85T-helper 1 type immune response (GO:0042088)2.75469458
86cell adhesion mediated by integrin (GO:0033627)2.75202510
87peptide hormone processing (GO:0016486)2.74151803
88renal filtration (GO:0097205)2.74037592
89regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)2.73069569
90COPII vesicle coating (GO:0048208)2.72309483
91glutamine family amino acid biosynthetic process (GO:0009084)2.71480910
92toxin transport (GO:1901998)2.71209268
93extracellular fibril organization (GO:0043206)2.68379812
94L-serine transport (GO:0015825)2.67693874
95intestinal absorption (GO:0050892)2.67511621
96erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.66252076
97L-phenylalanine metabolic process (GO:0006558)2.66252076
98B cell mediated immunity (GO:0019724)2.65646020
99surfactant homeostasis (GO:0043129)2.64896545
100glucose catabolic process (GO:0006007)2.64700332
101cell-substrate junction assembly (GO:0007044)2.64464710
102lipopolysaccharide-mediated signaling pathway (GO:0031663)2.64302816
103amyloid precursor protein metabolic process (GO:0042982)2.63903021
104positive regulation of Cdc42 GTPase activity (GO:0043089)2.61987111
105regulation of pseudopodium assembly (GO:0031272)2.61742172
106muscle cell migration (GO:0014812)2.61539307
107very-low-density lipoprotein particle assembly (GO:0034379)2.60848480
108positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.60535275
109response to host (GO:0075136)2.57582185
110response to host defenses (GO:0052200)2.57582185
111response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.57582185
112regulation of B cell receptor signaling pathway (GO:0050855)2.55092386
113lung epithelium development (GO:0060428)2.55068699
114protein localization to endosome (GO:0036010)2.54652031
115regulation of RIG-I signaling pathway (GO:0039535)2.54525752
116positive regulation of macrophage differentiation (GO:0045651)2.54489252
117endosome to melanosome transport (GO:0035646)2.53737010
118endosome to pigment granule transport (GO:0043485)2.53737010
119regulation of antigen processing and presentation (GO:0002577)2.53333756
120activation of Rac GTPase activity (GO:0032863)2.53240481
121positive regulation of extracellular matrix organization (GO:1903055)2.52290371
122positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.50075091
123membrane protein ectodomain proteolysis (GO:0006509)2.49490282
124regulation of cholesterol storage (GO:0010885)2.49157660
125fibril organization (GO:0097435)2.47164917
126complement activation, classical pathway (GO:0006958)2.46488654
127Arp2/3 complex-mediated actin nucleation (GO:0034314)2.46234888
128regulation of cholesterol esterification (GO:0010872)2.45578729
129peptide catabolic process (GO:0043171)2.45274845
130detection of molecule of bacterial origin (GO:0032490)2.44272737
131cellular response to exogenous dsRNA (GO:0071360)2.44243847
132lung vasculature development (GO:0060426)2.44213564
133negative regulation of erythrocyte differentiation (GO:0045647)2.43097377
134regulation of response to interferon-gamma (GO:0060330)2.42782445
135positive regulation of osteoblast proliferation (GO:0033690)2.42567506
136pinocytosis (GO:0006907)2.41465914
137respiratory burst (GO:0045730)2.41280681
138response to interferon-gamma (GO:0034341)2.41053248
139hydrogen peroxide biosynthetic process (GO:0050665)2.40835461
140negative regulation of cell size (GO:0045792)2.39575886
141cellular response to virus (GO:0098586)2.39569448
142regulation of gamma-delta T cell differentiation (GO:0045586)2.39495363
143keratan sulfate catabolic process (GO:0042340)2.39213833
144negative regulation of complement activation (GO:0045916)2.38690134
145negative regulation of protein activation cascade (GO:2000258)2.38318293
146low-density lipoprotein particle clearance (GO:0034383)2.36910260
147protein autoprocessing (GO:0016540)2.36657765
148cellular response to vitamin D (GO:0071305)2.36053163
149positive regulation of chemokine biosynthetic process (GO:0045080)2.35127339
150defense response to protozoan (GO:0042832)2.34821912
151angiotensin maturation (GO:0002003)2.34814543
152fibrinolysis (GO:0042730)2.33692322
153atrioventricular valve morphogenesis (GO:0003181)2.33533057
154T cell migration (GO:0072678)2.33368679
155positive regulation of nuclease activity (GO:0032075)2.33361106
156apoptotic cell clearance (GO:0043277)2.32993510
157myeloid cell activation involved in immune response (GO:0002275)2.32635269
158macrophage activation (GO:0042116)2.32292561
159serine transport (GO:0032329)2.31356537
160cellular response to interferon-alpha (GO:0035457)2.31338098
161cellular copper ion homeostasis (GO:0006878)2.31216356
162negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)2.30837945
163endocrine pancreas development (GO:0031018)2.30696998
164regulation of gamma-delta T cell activation (GO:0046643)2.30692739
165cytoskeletal anchoring at plasma membrane (GO:0007016)2.30569061
166gap junction assembly (GO:0016264)2.30106385
167cellular response to vitamin (GO:0071295)2.29707838
168activation of signaling protein activity involved in unfolded protein response (GO:0006987)2.29615461
169cellular response to interferon-gamma (GO:0071346)2.29536998
170negative regulation of glycoprotein biosynthetic process (GO:0010561)2.29016874
171sexual reproduction (GO:0019953)2.28643420
172amyloid precursor protein catabolic process (GO:0042987)2.27886416
173regulation of interferon-beta production (GO:0032648)2.27146855
174maintenance of protein localization in organelle (GO:0072595)2.26795426
175urea cycle (GO:0000050)2.26589042
176response to protozoan (GO:0001562)2.26556048
177positive regulation of receptor recycling (GO:0001921)2.26140033
178dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.25994363
179plasma lipoprotein particle assembly (GO:0034377)2.25386242
180regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.25289936
181virion attachment to host cell (GO:0019062)2.25216707
182adhesion of symbiont to host cell (GO:0044650)2.25216707
183positive regulation of lipoprotein lipase activity (GO:0051006)2.24802520
184positive regulation of triglyceride lipase activity (GO:0061365)2.24802520
185lymphocyte chemotaxis (GO:0048247)2.24377085
186regulation of natural killer cell differentiation (GO:0032823)2.24013383
187defense response to virus (GO:0051607)2.23964038
188negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)2.23823423
189JAK-STAT cascade (GO:0007259)2.23820479
190positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.23621173

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human6.10228525
2IRF8_21731497_ChIP-ChIP_J774_Mouse4.34556745
3IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.75322163
4IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.66726953
5GATA1_22025678_ChIP-Seq_K562_Human3.44152995
6ZNF263_19887448_ChIP-Seq_K562_Human3.31525906
7BP1_19119308_ChIP-ChIP_Hs578T_Human3.22481704
8TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.07216910
9IRF8_27001747_Chip-Seq_BMDM_Mouse2.88711264
10* MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.86908319
11* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.79741930
12SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.76578870
13TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.75449802
14ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.55625799
15STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.49383752
16* RACK7_27058665_Chip-Seq_MCF-7_Human2.44946980
17RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.39095668
18ESR2_21235772_ChIP-Seq_MCF-7_Human2.34249984
19MYB_21317192_ChIP-Seq_ERMYB_Mouse2.30383269
20PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.23403764
21NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.22291126
22FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.19111054
23SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.18686168
24HIF1A_21447827_ChIP-Seq_MCF-7_Human2.15340526
25RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.12059918
26STAT4_19710469_ChIP-ChIP_TH1__Mouse2.11369241
27EGR1_19374776_ChIP-ChIP_THP-1_Human2.09121128
28* RXR_22158963_ChIP-Seq_LIVER_Mouse2.06522701
29SCL_19346495_ChIP-Seq_HPC-7_Human2.04701779
30PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.00305809
31STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.99265147
32STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.98632118
33SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.97099408
34PPARA_22158963_ChIP-Seq_LIVER_Mouse1.94916837
35KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.92623076
36SPI1_23547873_ChIP-Seq_NB4_Human1.91090968
37ESR1_21235772_ChIP-Seq_MCF-7_Human1.87105217
38TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.85714242
39Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.84543754
40FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.79296651
41BRD4_27068464_Chip-Seq_AML-cells_Mouse1.77275012
42MYB_26560356_Chip-Seq_TH2_Human1.73823446
43* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.73257617
44SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.72353723
45STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.71821179
46RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.71171026
47UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.69745144
48NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.67311795
49* CDX2_20551321_ChIP-Seq_CACO-2_Human1.64764466
50LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.63003765
51RUNX1_22412390_ChIP-Seq_EML_Mouse1.61940707
52VDR_24763502_ChIP-Seq_THP-1_Human1.61885246
53* ATF3_27146783_Chip-Seq_COLON_Human1.61766814
54MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.61367103
55LXR_22158963_ChIP-Seq_LIVER_Mouse1.61301144
56TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.60068032
57ELF1_17652178_ChIP-ChIP_JURKAT_Human1.55448843
58MAF_26560356_Chip-Seq_TH1_Human1.55089473
59FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.54373000
60VDR_21846776_ChIP-Seq_THP-1_Human1.54058291
61TP63_17297297_ChIP-ChIP_HaCaT_Human1.53491471
62KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.53442505
63CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.53222351
64TET1_21451524_ChIP-Seq_MESCs_Mouse1.51769385
65LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.51493076
66SPI1_23127762_ChIP-Seq_K562_Human1.48500185
67ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.47955935
68E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.47617503
69NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.47269626
70SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.44113782
71TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.43436030
72MYB_26560356_Chip-Seq_TH1_Human1.42449236
73ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.41889368
74P300_27058665_Chip-Seq_ZR-75-30cells_Human1.41154822
75KDM2B_26808549_Chip-Seq_SUP-B15_Human1.40707716
76GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.40421183
77MYC_22102868_ChIP-Seq_BL_Human1.40191969
78SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.39179253
79ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.38398695
80DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.38371818
81P63_26484246_Chip-Seq_KERATINOCYTES_Human1.37957396
82CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.37833297
83EGR1_23403033_ChIP-Seq_LIVER_Mouse1.37416981
84SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.37371135
85CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.35711855
86GATA2_22383799_ChIP-Seq_G1ME_Mouse1.34472040
87TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.33905649
88GATA2_21666600_ChIP-Seq_HMVEC_Human1.33176104
89THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.32625543
90* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.32451717
91* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.31908049
92RARG_19884340_ChIP-ChIP_MEFs_Mouse1.30972033
93* UTX_26944678_Chip-Seq_JUKART_Human1.30677756
94POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.30107366
95ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.29829968
96* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.29723398
97GATA3_27048872_Chip-Seq_THYMUS_Human1.29239928
98RUNX_20019798_ChIP-Seq_JUKART_Human1.27897389
99GATA6_25053715_ChIP-Seq_YYC3_Human1.27319744
100NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.27196836
101RUNX1_27514584_Chip-Seq_MCF-7_Human1.27067719
102TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.26812080
103KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.26735210
104PPAR_26484153_Chip-Seq_NCI-H1993_Human1.26568338
105EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.26511848
106ERG_20887958_ChIP-Seq_HPC-7_Mouse1.26442512
107TP53_22127205_ChIP-Seq_IMR90_Human1.25329492
108* PU_27001747_Chip-Seq_BMDM_Mouse1.25089787
109SRY_22984422_ChIP-ChIP_TESTIS_Rat1.24765354
110SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.23445815
111WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.23277376
112HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.22296113
113SMC4_20622854_ChIP-Seq_HELA_Human1.22097792
114TFEB_21752829_ChIP-Seq_HELA_Human1.21951339
115KDM2B_26808549_Chip-Seq_K562_Human1.21245017
116SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.21019037
117SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.21019037
118PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.20562834
119ERG_21242973_ChIP-ChIP_JURKAT_Human1.20470730
120* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.20413907
121CTCF_27219007_Chip-Seq_ERYTHROID_Human1.17797553
122* P68_20966046_ChIP-Seq_HELA_Human1.15604732
123CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.15524779
124STAT3_1855785_ChIP-Seq_MESCs_Mouse1.15243026
125ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.14853889
126MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.14139909
127ELK3_25401928_ChIP-Seq_HUVEC_Human1.13618282
128CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.13565600
129CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.12903377
130SREBP2_21459322_ChIP-Seq_LIVER_Mouse1.12884852
131ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.12736203
132* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.12562243
133* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.12347023
134EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.12236707
135SA1_27219007_Chip-Seq_ERYTHROID_Human1.11600000
136SOX2_20726797_ChIP-Seq_SW620_Human1.10942221
137DNAJC2_21179169_ChIP-ChIP_NT2_Human1.10569645
138CLOCK_20551151_ChIP-Seq_293T_Human1.09999986
139UBF1/2_26484160_Chip-Seq_HMECs_Human1.09990146
140TCF7_22412390_ChIP-Seq_EML_Mouse1.09651695
141ZFP281_18757296_ChIP-ChIP_E14_Mouse1.09035654
142PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.08469094
143TBX20_22328084_ChIP-Seq_HEART_Mouse1.07925496
144TBX20_22080862_ChIP-Seq_HEART_Mouse1.07925496
145EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.07757913
146ESR1_15608294_ChIP-ChIP_MCF-7_Human1.07724538
147PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.07491845
148* CREB1_26743006_Chip-Seq_LNCaP_Human1.05706078
149GATA3_26560356_Chip-Seq_TH2_Human1.05550133
150SOX9_24532713_ChIP-Seq_HFSC_Mouse1.05271348
151GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.05241324
152* LXR_22292898_ChIP-Seq_THP-1_Human1.04903159
153FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.02643548
154* GATA1_19941827_ChIP-Seq_MEL_Mouse1.02258274
155SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.01837906
156GATA1_19941826_ChIP-Seq_K562_Human1.01722411
157SOX2_27498859_Chip-Seq_STOMACH_Mouse1.00649332
158* TP63_22573176_ChIP-Seq_HFKS_Human0.99408296
159* RARB_24833708_ChIP-Seq_LIVER_Mouse0.99066217
160HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.98319934
161KLF4_18555785_ChIP-Seq_MESCs_Mouse0.97974623
162NFIB_24661679_ChIP-Seq_LUNG_Mouse0.97649793
163GATA4_25053715_ChIP-Seq_YYC3_Human0.97144324
164PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.96597093
165CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.96407229
166BCOR_27268052_Chip-Seq_Bcells_Human0.95456727
167* RARA_24833708_ChIP-Seq_LIVER_Mouse0.94113730
168TET1_21490601_ChIP-Seq_MESCs_Mouse0.93716606
169TRIM28_21343339_ChIP-Seq_HEK293_Human0.93016099
170CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.92497719
171PU.1_20513432_ChIP-Seq_Bcells_Mouse0.87680469
172MAF_26560356_Chip-Seq_TH2_Human0.86081079
173CEBPB_24764292_ChIP-Seq_MC3T3_Mouse0.85437310
174NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.85298860
175FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.83855143
176PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.82198073

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010234_abnormal_vibrissa_follicle3.36375617
2MP0005058_abnormal_lysosome_morphology3.31588004
3MP0004272_abnormal_basement_membrane3.29830827
4MP0001835_abnormal_antigen_presentation3.28350312
5MP0003724_increased_susceptibility_to3.03585769
6MP0009785_altered_susceptibility_to2.80593850
7MP0003436_decreased_susceptibility_to2.58807479
8MP0000685_abnormal_immune_system2.39607070
9MP0003172_abnormal_lysosome_physiology2.30900517
10MP0006082_CNS_inflammation2.29707289
11MP0003300_gastrointestinal_ulcer2.28092225
12MP0002148_abnormal_hypersensitivity_rea2.23930199
13MP0003183_abnormal_peptide_metabolism2.23655097
14MP0005025_abnormal_response_to2.23446501
15MP0005000_abnormal_immune_tolerance2.23227569
16MP0009840_abnormal_foam_cell2.20144997
17MP0005671_abnormal_response_to2.18204029
18MP0001790_abnormal_immune_system2.17862192
19MP0005387_immune_system_phenotype2.17862192
20MP0002877_abnormal_melanocyte_morpholog2.17681800
21MP0002419_abnormal_innate_immunity2.15937564
22MP0005670_abnormal_white_adipose2.11889579
23MP0003195_calcinosis2.11161382
24MP0000751_myopathy2.07448798
25MP0003191_abnormal_cellular_cholesterol2.04666505
26MP0005409_darkened_coat_color2.01699355
27MP0004858_abnormal_nervous_system1.91748140
28MP0001849_ear_inflammation1.90290017
29MP0000566_synostosis1.89725483
30MP0008438_abnormal_cutaneous_collagen1.88855298
31MP0002166_altered_tumor_susceptibility1.87733119
32MP0000013_abnormal_adipose_tissue1.86373947
33MP0002060_abnormal_skin_morphology1.86124910
34MP0005464_abnormal_platelet_physiology1.83101962
35MP0006054_spinal_hemorrhage1.79360621
36* MP0002723_abnormal_immune_serum1.78831127
37MP0002452_abnormal_antigen_presenting1.78479046
38MP0001533_abnormal_skeleton_physiology1.78440859
39MP0001800_abnormal_humoral_immune1.74081389
40MP0003453_abnormal_keratinocyte_physiol1.73610273
41MP0009780_abnormal_chondrocyte_physiolo1.73181327
42MP0005171_absent_coat_pigmentation1.71592570
43MP0005408_hypopigmentation1.70873973
44MP0004947_skin_inflammation1.68319758
45MP0002693_abnormal_pancreas_physiology1.67716850
46MP0005451_abnormal_body_composition1.67539838
47MP0002909_abnormal_adrenal_gland1.64632887
48MP0001819_abnormal_immune_cell1.61155960
49MP0002420_abnormal_adaptive_immunity1.59906973
50MP0003303_peritoneal_inflammation1.58842204
51* MP0001845_abnormal_inflammatory_respons1.58449748
52* MP0008469_abnormal_protein_level1.58232348
53MP0008875_abnormal_xenobiotic_pharmacok1.55996989
54MP0010155_abnormal_intestine_physiology1.55375963
55MP0003329_amyloid_beta_deposits1.53866161
56MP0000678_abnormal_parathyroid_gland1.52498893
57MP0005379_endocrine/exocrine_gland_phen1.50092657
58MP0002405_respiratory_system_inflammati1.47219330
59MP0004510_myositis1.46901471
60MP0008260_abnormal_autophagy1.45074687
61MP0010030_abnormal_orbit_morphology1.44511797
62MP0002006_tumorigenesis1.43129094
63MP0005310_abnormal_salivary_gland1.42035539
64MP0002138_abnormal_hepatobiliary_system1.38932691
65MP0000537_abnormal_urethra_morphology1.37350741
66MP0005275_abnormal_skin_tensile1.34494052
67MP0010386_abnormal_urinary_bladder1.33836523
68MP0000343_altered_response_to1.32661268
69MP0002796_impaired_skin_barrier1.32450271
70MP0009333_abnormal_splenocyte_physiolog1.32393167
71MP0005365_abnormal_bile_salt1.31945752
72MP0005330_cardiomyopathy1.30660775
73MP0005165_increased_susceptibility_to1.30410324
74MP0004019_abnormal_vitamin_homeostasis1.30145736
75MP0002933_joint_inflammation1.29375240
76MP0003763_abnormal_thymus_physiology1.29017028
77MP0001944_abnormal_pancreas_morphology1.28632187
78MP0002896_abnormal_bone_mineralization1.26148023
79MP0010352_gastrointestinal_tract_polyps1.26114993
80MP0000858_altered_metastatic_potential1.25737600
81MP0009643_abnormal_urine_homeostasis1.25505715
82MP0000716_abnormal_immune_system1.24334687
83MP0002398_abnormal_bone_marrow1.20421740
84MP0002089_abnormal_postnatal_growth/wei1.20132404
85MP0005375_adipose_tissue_phenotype1.19511740
86MP0005666_abnormal_adipose_tissue1.18359864
87MP0005220_abnormal_exocrine_pancreas1.18241921
88MP0003091_abnormal_cell_migration1.18219470
89MP0005501_abnormal_skin_physiology1.17177745
90MP0002998_abnormal_bone_remodeling1.15334617
91MP0009764_decreased_sensitivity_to1.15065611
92MP0005076_abnormal_cell_differentiation1.14801438
93MP0003866_abnormal_defecation1.14222681
94MP0000762_abnormal_tongue_morphology1.12461243
95MP0001853_heart_inflammation1.11743326
96MP0002139_abnormal_hepatobiliary_system1.09728225
97MP0005397_hematopoietic_system_phenotyp1.09722094
98MP0001545_abnormal_hematopoietic_system1.09722094
99MP0003252_abnormal_bile_duct1.09300215
100MP0000609_abnormal_liver_physiology1.06521966
101MP0005085_abnormal_gallbladder_physiolo1.06270131
102MP0000467_abnormal_esophagus_morphology1.05443495
103MP0001216_abnormal_epidermal_layer1.05374269
104MP0002429_abnormal_blood_cell1.05048237
105MP0003448_altered_tumor_morphology1.04591761
106MP0000689_abnormal_spleen_morphology1.04460773
107MP0005508_abnormal_skeleton_morphology1.01971406
108MP0003186_abnormal_redox_activity1.01722685
109MP0000003_abnormal_adipose_tissue1.01109992
110MP0006138_congestive_heart_failure0.99322228
111MP0003045_fibrosis0.98418651
112MP0002722_abnormal_immune_system0.97406507
113MP0010368_abnormal_lymphatic_system0.97243699
114MP0003075_altered_response_to0.96437464
115MP0001756_abnormal_urination0.96332302
116MP0001873_stomach_inflammation0.96070395
117MP0000462_abnormal_digestive_system0.94126254
118MP0010329_abnormal_lipoprotein_level0.93932190
119MP0000465_gastrointestinal_hemorrhage0.93603922
120MP0000604_amyloidosis0.93539929
121MP0001661_extended_life_span0.93512370
122MP0002078_abnormal_glucose_homeostasis0.90953236
123MP0005164_abnormal_response_to0.90649104
124MP0002396_abnormal_hematopoietic_system0.90362409
125MP0000579_abnormal_nail_morphology0.90036483
126MP0009763_increased_sensitivity_to0.89556911
127MP0005390_skeleton_phenotype0.89373274
128MP0005257_abnormal_intraocular_pressure0.89057902
129MP0003795_abnormal_bone_structure0.88345036
130MP0003566_abnormal_cell_adhesion0.88288305
131MP0002118_abnormal_lipid_homeostasis0.86379932
132MP0002098_abnormal_vibrissa_morphology0.86333526
133MP0005503_abnormal_tendon_morphology0.86323231
134MP0005360_urolithiasis0.85417659
135MP0000534_abnormal_ureter_morphology0.85071649
136MP0005083_abnormal_biliary_tract0.83695208
137MP0003950_abnormal_plasma_membrane0.83509608
138MP0003123_paternal_imprinting0.83324804
139MP0003705_abnormal_hypodermis_morpholog0.83006630
140MP0000767_abnormal_smooth_muscle0.82724549
141MP0005023_abnormal_wound_healing0.82545373
142MP0005319_abnormal_enzyme/_coenzyme0.81032286
143MP0001666_abnormal_nutrient_absorption0.80846333
144MP0002136_abnormal_kidney_physiology0.80653106
145MP0001958_emphysema0.79448250
146MP0004782_abnormal_surfactant_physiolog0.79400280
147MP0004185_abnormal_adipocyte_glucose0.79184998
148MP0003279_aneurysm0.77589997
149MP0002928_abnormal_bile_duct0.77495936
150MP0004264_abnormal_extraembryonic_tissu0.77376167
151MP0002295_abnormal_pulmonary_circulatio0.77055869
152MP0000490_abnormal_crypts_of0.76782537
153MP0009278_abnormal_bone_marrow0.76736042
154MP0000681_abnormal_thyroid_gland0.75755215
155MP0010771_integument_phenotype0.74676661
156MP0005197_abnormal_uvea_morphology0.74133305
157MP0003315_abnormal_perineum_morphology0.72495385
158MP0002971_abnormal_brown_adipose0.72053400
159MP0005332_abnormal_amino_acid0.71545803
160MP0002970_abnormal_white_adipose0.70741705
161MP0002249_abnormal_larynx_morphology0.70738366
162MP0000477_abnormal_intestine_morphology0.70401160
163MP0005584_abnormal_enzyme/coenzyme_acti0.70318148
164MP0003634_abnormal_glial_cell0.69881798
165MP0001664_abnormal_digestion0.67176284
166MP0005166_decreased_susceptibility_to0.65714032
167MP0000538_abnormal_urinary_bladder0.65627357

Predicted human phenotypes

RankGene SetZ-score
1Dysostosis multiplex (HP:0000943)4.85514440
2Vacuolated lymphocytes (HP:0001922)4.70758307
3Premature rupture of membranes (HP:0001788)4.50355370
4Mucopolysacchariduria (HP:0008155)4.46382437
5Urinary glycosaminoglycan excretion (HP:0003541)4.46382437
6Systemic lupus erythematosus (HP:0002725)4.28064821
7Protrusio acetabuli (HP:0003179)4.20632663
8Abnormality of mucopolysaccharide metabolism (HP:0011020)4.10850884
9Abnormality of polysaccharide metabolism (HP:0011012)4.10850884
10Abnormality of glycosaminoglycan metabolism (HP:0004371)4.10850884
11Increased cerebral lipofuscin (HP:0011813)3.82312262
12Recurrent abscess formation (HP:0002722)3.65315895
13Eczematoid dermatitis (HP:0000976)3.63467332
14Elevated erythrocyte sedimentation rate (HP:0003565)3.60548173
15Deep venous thrombosis (HP:0002625)3.58659334
16Increased neuronal autofluorescent lipopigment (HP:0002074)3.54954877
17Chronic otitis media (HP:0000389)3.35162023
18Cerebral aneurysm (HP:0004944)3.24648716
19Myositis (HP:0100614)3.24540473
20Recurrent bacterial skin infections (HP:0005406)3.24235173
21Hypoglycemic coma (HP:0001325)3.15533710
22Recurrent gram-negative bacterial infections (HP:0005420)3.13598213
23Distal upper limb amyotrophy (HP:0007149)3.05843548
24Upper limb amyotrophy (HP:0009129)3.05843548
25Hemorrhage of the eye (HP:0011885)2.94582782
26Right ventricular cardiomyopathy (HP:0011663)2.93265795
27Hypoglycemic seizures (HP:0002173)2.90463685
28Abnormality of macrophages (HP:0004311)2.88117550
29Xanthomatosis (HP:0000991)2.86934719
30Autoimmune thrombocytopenia (HP:0001973)2.86275515
31Atrophic scars (HP:0001075)2.85740557
32Abnormality of the nasal mucosa (HP:0000433)2.84941196
33Nasal polyposis (HP:0100582)2.80859950
34Hyperinsulinemic hypoglycemia (HP:0000825)2.79933340
35Interstitial pulmonary disease (HP:0006530)2.76090177
36Abnormality of liposaccharide metabolism (HP:0010968)2.73996431
37Abnormality of glycosphingolipid metabolism (HP:0004343)2.73996431
38Abnormality of glycolipid metabolism (HP:0010969)2.73996431
39Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.70166936
40Glomerulonephritis (HP:0000099)2.69877132
41Short nail (HP:0001799)2.69147512
42Vascular calcification (HP:0004934)2.67506956
43J-shaped sella turcica (HP:0002680)2.66810206
44Distal lower limb amyotrophy (HP:0008944)2.66479460
45Distal lower limb muscle weakness (HP:0009053)2.64020048
46Retinal atrophy (HP:0001105)2.63275482
47Late onset (HP:0003584)2.59961859
48Abnormality of glutamine family amino acid metabolism (HP:0010902)2.59779656
49Complement deficiency (HP:0004431)2.59316938
50Abnormality of the distal phalanges of the toes (HP:0010182)2.57517152
51Cervical subluxation (HP:0003308)2.52369172
52Orchitis (HP:0100796)2.52354763
53Symptomatic seizures (HP:0011145)2.52037293
54Cardiovascular calcification (HP:0011915)2.51232182
55Broad face (HP:0000283)2.48065292
56Progressive neurologic deterioration (HP:0002344)2.46633870
57Osteolytic defects of the hand bones (HP:0009699)2.45382097
58Osteolytic defects of the phalanges of the hand (HP:0009771)2.45382097
59Beaking of vertebral bodies (HP:0004568)2.45008583
60Mitral stenosis (HP:0001718)2.43887756
61Fragile skin (HP:0001030)2.43829265
62Hand muscle atrophy (HP:0009130)2.41228064
63Abnormality of the Achilles tendon (HP:0005109)2.40840763
64Recurrent bronchitis (HP:0002837)2.40340630
65Increased connective tissue (HP:0009025)2.39578904
66Petechiae (HP:0000967)2.39457796
67Achilles tendon contracture (HP:0001771)2.38865863
68Axonal loss (HP:0003447)2.38656790
69Flat acetabular roof (HP:0003180)2.37883582
70Recurrent fungal infections (HP:0002841)2.37114397
71Ulnar bowing (HP:0003031)2.36357449
72Abnormality of carpal bone ossification (HP:0006257)2.35659312
73Loss of speech (HP:0002371)2.34305073
74Basal ganglia calcification (HP:0002135)2.33999656
75Vertebral compression fractures (HP:0002953)2.33866580
76Abnormality of aromatic amino acid family metabolism (HP:0004338)2.32959967
77Thrombocytosis (HP:0001894)2.32267061
78Hyperacusis (HP:0010780)2.32045200
79Arterial tortuosity (HP:0005116)2.31839623
80Mildly elevated creatine phosphokinase (HP:0008180)2.31794557
81Abnormality of T cell physiology (HP:0011840)2.30897240
82Pustule (HP:0200039)2.30846397
83Focal segmental glomerulosclerosis (HP:0000097)2.29393223
84Nuclear cataract (HP:0100018)2.28566741
85Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.27721944
86Abnormality of complement system (HP:0005339)2.27639218
87Recurrent viral infections (HP:0004429)2.26237501
88Asymmetric septal hypertrophy (HP:0001670)2.25424717
89Recurrent skin infections (HP:0001581)2.25304444
90Gingivitis (HP:0000230)2.24895922
91Wormian bones (HP:0002645)2.24577613
92Periodontitis (HP:0000704)2.23455186
93Abnormality of proline metabolism (HP:0010907)2.22229759
94Hydroxyprolinuria (HP:0003080)2.22229759
95IgM deficiency (HP:0002850)2.20233262
96Trismus (HP:0000211)2.18011117
97Ketoacidosis (HP:0001993)2.16927936
98Vascular tortuosity (HP:0004948)2.16854058
99Coxa vara (HP:0002812)2.16739607
100Hyperglycemia (HP:0003074)2.16205759
101Cholecystitis (HP:0001082)2.15403006
102Abnormal gallbladder physiology (HP:0012438)2.15403006
103Growth hormone excess (HP:0000845)2.15094782
104Gingival bleeding (HP:0000225)2.13279388
105Abnormality of the intrinsic pathway (HP:0010989)2.12496811
106Abnormality of monocarboxylic acid metabolism (HP:0010996)2.12364899
107Spontaneous hematomas (HP:0007420)2.11764229
108Acanthosis nigricans (HP:0000956)2.11294411
109Glomerulosclerosis (HP:0000096)2.09320791
110Glucose intolerance (HP:0000833)2.08408062
111Joint stiffness (HP:0001387)2.07984891
112Amyloidosis (HP:0011034)2.07407183
113Stridor (HP:0010307)2.07273524
114Aneurysm (HP:0002617)2.05055548
115Skin nodule (HP:0200036)2.04985373
116Hypergammaglobulinemia (HP:0010702)2.03150125
117Insulin-resistant diabetes mellitus (HP:0000831)2.02765824
118Elbow flexion contracture (HP:0002987)2.02587190
119Autoimmune hemolytic anemia (HP:0001890)2.01177085
120Pterygium (HP:0001059)2.00901461
121Abnormality of T cells (HP:0002843)1.98958673
122Abnormal ossification of hand bones (HP:0005921)1.98887602
123Vasculitis (HP:0002633)1.98354477
124Spondylolisthesis (HP:0003302)1.97496717
125Hypokinesia (HP:0002375)1.96856874
126Abdominal distention (HP:0003270)1.96584349
127Alopecia of scalp (HP:0002293)1.94099615
128Hypercholesterolemia (HP:0003124)1.93741003
129Aortic dissection (HP:0002647)1.93525781
130Paraparesis (HP:0002385)1.93016840
131Neurofibrillary tangles (HP:0002185)1.92589797
132Abnormal delayed hypersensitivity skin test (HP:0002963)1.91597697
133Epistaxis (HP:0000421)1.91592089
134Spinal rigidity (HP:0003306)1.91341999
135Ovoid vertebral bodies (HP:0003300)1.91222924
136Abnormality of the common coagulation pathway (HP:0010990)1.90520863
137Blue sclerae (HP:0000592)1.90199231
138Abnormality of the acetabulum (HP:0003170)1.89778496
139Bladder diverticulum (HP:0000015)1.87405956
140Generalized aminoaciduria (HP:0002909)1.86202322
141Hypoplasia of the capital femoral epiphysis (HP:0003090)1.85645072
142Inflammation of the large intestine (HP:0002037)1.85477270
143Gastrointestinal inflammation (HP:0004386)1.84866003
144Tetraparesis (HP:0002273)1.84596817
145Biconcave vertebral bodies (HP:0004586)1.83525902
146Advanced eruption of teeth (HP:0006288)1.83216831
147Abnormality of the pancreatic islet cells (HP:0006476)1.83211624
148Abnormality of endocrine pancreas physiology (HP:0012093)1.83211624
149Large for gestational age (HP:0001520)1.83023805
150Joint hemorrhage (HP:0005261)1.82594507
151Natal tooth (HP:0000695)1.82474492
152Joint swelling (HP:0001386)1.82404579
153Malnutrition (HP:0004395)1.82278206
154Impaired platelet aggregation (HP:0003540)1.82201096
155Abnormal platelet function (HP:0011869)1.82201096
156Purpura (HP:0000979)1.82181891
157Hematochezia (HP:0002573)1.81978403
158Abnormality of dentin (HP:0010299)1.80842977
159Reduced subcutaneous adipose tissue (HP:0003758)1.79941692
160Abnormal glucose tolerance (HP:0001952)1.79162642
161Chronic diarrhea (HP:0002028)1.79055725
162Hypertriglyceridemia (HP:0002155)1.78779818
163Pulmonary infiltrates (HP:0002113)1.77701993
164Myocardial infarction (HP:0001658)1.77044143
165Shallow orbits (HP:0000586)1.76768522
166Hypoplasia of the thymus (HP:0000778)1.76467129
167Nephritis (HP:0000123)1.76362546
168Abnormality of calcium-phosphate metabolism (HP:0100530)1.75350667
169Pathologic fracture (HP:0002756)1.75264273
170Abnormality of the vasculature of the conjunctiva (HP:0008054)1.75219405
171Retrobulbar optic neuritis (HP:0100654)1.74805909
172Optic neuritis (HP:0100653)1.74805909
173Cardiomegaly (HP:0001640)1.74330962
174Increased IgM level (HP:0003496)1.73653431
175Abnormal protein glycosylation (HP:0012346)1.73001440
176Abnormal glycosylation (HP:0012345)1.73001440
177Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.73001440
178Abnormal protein N-linked glycosylation (HP:0012347)1.73001440
179Prolonged neonatal jaundice (HP:0006579)1.71785285
180Generalized amyotrophy (HP:0003700)1.71357138

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA25.65176403
2ERN14.19256254
3TAOK33.27250498
4LMTK23.11588920
5TBK12.96385656
6MAPK152.91345122
7TYK22.81644726
8MAP4K12.63157043
9KIT2.62634885
10JAK32.38695856
11ICK2.32011918
12IKBKE2.25876147
13ZAP702.23014812
14FGFR42.16679585
15FLT32.15778954
16IRAK32.09923628
17JAK12.09375544
18TGFBR22.00350227
19BLK1.99810618
20IRAK41.95624566
21TRIB31.93291616
22SMG11.91535840
23PIK3CG1.91133394
24INSRR1.83500159
25PIM21.68480202
26PASK1.61510902
27MAP3K141.59155490
28TEC1.56483133
29LIMK11.54476876
30TXK1.54449765
31EPHB21.53372918
32BTK1.53258426
33SCYL21.52777738
34NME21.49309921
35FRK1.43193894
36KDR1.38667898
37DDR21.37621250
38EPHA31.34904462
39HIPK21.34087534
40WNK31.26132442
41CSK1.24529845
42RIPK11.23564275
43PKN21.19039055
44IKBKB1.13468597
45PTK61.12800019
46EPHB11.12536749
47NTRK11.12471976
48NEK91.12162404
49CSF1R1.11069611
50RPS6KA41.10383119
51SYK1.06434117
52JAK21.06035374
53FGFR31.05520631
54MAP2K31.04802391
55MAP3K11.02828087
56CAMKK21.02461895
57ARAF1.00669086
58PRPF4B1.00293032
59ITK0.98785575
60SIK10.97103111
61LRRK20.92908540
62LCK0.90311165
63MAP3K30.88604343
64FER0.87026445
65MST1R0.86799365
66TGFBR10.86318138
67PRKG20.86090131
68CDC42BPA0.84835738
69LYN0.83766862
70TAOK20.80780976
71HCK0.79732496
72IRAK10.79695846
73NLK0.79180326
74BCKDK0.79175963
75CDK120.78492505
76CHUK0.78382221
77ERBB40.75525787
78LATS20.73201872
79PTK20.73156251
80DYRK1B0.71552493
81MAP3K130.70642267
82MAP3K20.70226320
83MTOR0.69585095
84EEF2K0.68496787
85PDPK10.67496346
86MATK0.66804137
87TESK10.66647406
88TIE10.65747648
89MAP3K60.64020525
90ILK0.61573281
91PDK20.60979276
92CDK80.58797569
93MAPKAPK30.58320809
94MAP2K20.58116611
95CAMK1D0.57360389
96PRKD20.55739927
97PRKCI0.54378828
98DAPK10.54334890
99PDGFRA0.54265125
100PAK40.53511895
101PRKCH0.52195392
102CAMK2G0.51961769
103CDK70.50668328
104MAP3K110.49781442
105STK100.49228975
106MAP3K120.49225641
107STK380.48672957
108PRKD30.45873269
109MAPK110.45734553
110VRK20.45721205
111RIPK40.45341674
112PHKG20.44267015
113PHKG10.44267015
114IGF1R0.43508448
115CAMK2D0.41305827
116MAP3K100.40619043
117ERBB20.40253469
118PRKCD0.40146306
119RET0.39637533
120RPS6KA20.39162020
121DMPK0.38716117
122PIM10.38312422
123MAP2K60.36819986
124EIF2AK10.36117931
125MET0.35939801
126GSK3A0.35682381
127ROCK20.35233175
128BRSK10.34338311
129ADRBK20.33515216
130SRC0.32123906
131RPS6KB20.32040254
132NME10.31872653
133PRKD10.31468485
134EGFR0.31019777
135MAPKAPK20.30710610
136PAK10.30540438
137MUSK0.29868639
138CDK90.29705720
139FES0.29577684
140EIF2AK30.29009518
141CDK60.28926657
142ABL10.28581170
143PDGFRB0.28333798
144ABL20.28321444
145TESK20.28059038
146LATS10.27120625
147WNK40.25569028
148ROCK10.25325652
149MELK0.25143089
150BMX0.24996637
151MYLK0.24258328
152MAP3K80.24231625
153AKT20.23998639
154BRSK20.23840652
155RPS6KA50.23056625
156TTN0.22732904

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049504.11925032
2Cyanoamino acid metabolism_Homo sapiens_hsa004603.65201217
3Glycosaminoglycan degradation_Homo sapiens_hsa005313.24866103
4Other glycan degradation_Homo sapiens_hsa005113.00617399
5Lysosome_Homo sapiens_hsa041422.79609320
6Staphylococcus aureus infection_Homo sapiens_hsa051502.78209699
7Protein export_Homo sapiens_hsa030602.47916082
8Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.37099890
9Leishmaniasis_Homo sapiens_hsa051402.28236841
102-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.24744571
11Antigen processing and presentation_Homo sapiens_hsa046122.19769335
12Phenylalanine metabolism_Homo sapiens_hsa003602.16448215
13Toll-like receptor signaling pathway_Homo sapiens_hsa046202.01361798
14Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.95253900
15Legionellosis_Homo sapiens_hsa051341.91974166
16Caffeine metabolism_Homo sapiens_hsa002321.91063072
17Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.87738389
18Pertussis_Homo sapiens_hsa051331.81666214
19Arginine biosynthesis_Homo sapiens_hsa002201.81387710
20Measles_Homo sapiens_hsa051621.80838447
21Biosynthesis of amino acids_Homo sapiens_hsa012301.76543574
22Sulfur relay system_Homo sapiens_hsa041221.73879006
23RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.72223440
24Tyrosine metabolism_Homo sapiens_hsa003501.71728795
25Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.70226892
26ECM-receptor interaction_Homo sapiens_hsa045121.69952321
27NF-kappa B signaling pathway_Homo sapiens_hsa040641.67311397
28Osteoclast differentiation_Homo sapiens_hsa043801.66376972
29Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.66002861
30Type I diabetes mellitus_Homo sapiens_hsa049401.57615085
31Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.55873855
32Malaria_Homo sapiens_hsa051441.54500052
33Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.54161148
34Primary immunodeficiency_Homo sapiens_hsa053401.46033513
35Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.43591713
36Intestinal immune network for IgA production_Homo sapiens_hsa046721.40740622
37Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.40586372
38Fatty acid elongation_Homo sapiens_hsa000621.37477381
39Hematopoietic cell lineage_Homo sapiens_hsa046401.35230634
40Tuberculosis_Homo sapiens_hsa051521.34335281
41Carbon metabolism_Homo sapiens_hsa012001.32711156
42Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.32652505
43Vitamin digestion and absorption_Homo sapiens_hsa049771.31864740
44Folate biosynthesis_Homo sapiens_hsa007901.31811605
45Complement and coagulation cascades_Homo sapiens_hsa046101.29454132
46Bile secretion_Homo sapiens_hsa049761.29017585
47Influenza A_Homo sapiens_hsa051641.28478282
48Sulfur metabolism_Homo sapiens_hsa009201.24186100
49Glutathione metabolism_Homo sapiens_hsa004801.23609037
50Arginine and proline metabolism_Homo sapiens_hsa003301.22656454
51Central carbon metabolism in cancer_Homo sapiens_hsa052301.21113812
52Pentose and glucuronate interconversions_Homo sapiens_hsa000401.20378556
53Jak-STAT signaling pathway_Homo sapiens_hsa046301.19871377
54Toxoplasmosis_Homo sapiens_hsa051451.19398250
55Graft-versus-host disease_Homo sapiens_hsa053321.19352099
56TNF signaling pathway_Homo sapiens_hsa046681.17180439
57Herpes simplex infection_Homo sapiens_hsa051681.17100667
58Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.15851182
59N-Glycan biosynthesis_Homo sapiens_hsa005101.15803490
60Vitamin B6 metabolism_Homo sapiens_hsa007501.13534837
61Galactose metabolism_Homo sapiens_hsa000521.13281370
62Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.10706482
63Protein digestion and absorption_Homo sapiens_hsa049741.09764590
64Allograft rejection_Homo sapiens_hsa053301.08088428
65Fatty acid metabolism_Homo sapiens_hsa012121.06769917
66Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.04538910
67Focal adhesion_Homo sapiens_hsa045101.03998485
68Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.02942692
69ABC transporters_Homo sapiens_hsa020101.02219293
70Bladder cancer_Homo sapiens_hsa052191.00195881
71Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.99715515
72Apoptosis_Homo sapiens_hsa042100.98266266
73Fatty acid biosynthesis_Homo sapiens_hsa000610.97857221
74NOD-like receptor signaling pathway_Homo sapiens_hsa046210.96627089
75Mineral absorption_Homo sapiens_hsa049780.96568186
76Pyruvate metabolism_Homo sapiens_hsa006200.95194955
77Notch signaling pathway_Homo sapiens_hsa043300.92924814
78Phagosome_Homo sapiens_hsa041450.92448395
79Rheumatoid arthritis_Homo sapiens_hsa053230.91866214
80Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.91155043
81B cell receptor signaling pathway_Homo sapiens_hsa046620.90930085
82Selenocompound metabolism_Homo sapiens_hsa004500.89334766
83Hepatitis C_Homo sapiens_hsa051600.89023237
84Prion diseases_Homo sapiens_hsa050200.88995912
85Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.85944345
86Chemical carcinogenesis_Homo sapiens_hsa052040.85821455
87Asthma_Homo sapiens_hsa053100.83575643
88Carbohydrate digestion and absorption_Homo sapiens_hsa049730.81099169
89Salmonella infection_Homo sapiens_hsa051320.80148786
90Hepatitis B_Homo sapiens_hsa051610.79763910
91Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.79555809
92Small cell lung cancer_Homo sapiens_hsa052220.79057536
93Starch and sucrose metabolism_Homo sapiens_hsa005000.78230999
94Drug metabolism - other enzymes_Homo sapiens_hsa009830.76179003
95Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.75645119
96Shigellosis_Homo sapiens_hsa051310.75342715
97Renin-angiotensin system_Homo sapiens_hsa046140.74958550
98Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.74732135
99Adherens junction_Homo sapiens_hsa045200.73676140
100Thyroid hormone synthesis_Homo sapiens_hsa049180.73624649
101Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.71983054
102Steroid hormone biosynthesis_Homo sapiens_hsa001400.71722752
103Chemokine signaling pathway_Homo sapiens_hsa040620.71364029
104Type II diabetes mellitus_Homo sapiens_hsa049300.68266458
105Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.67992262
106Acute myeloid leukemia_Homo sapiens_hsa052210.65691555
107Leukocyte transendothelial migration_Homo sapiens_hsa046700.65396644
108Prolactin signaling pathway_Homo sapiens_hsa049170.65396219
109Proteoglycans in cancer_Homo sapiens_hsa052050.64770230
110Glycerolipid metabolism_Homo sapiens_hsa005610.64120824
111Fat digestion and absorption_Homo sapiens_hsa049750.62837690
112Adipocytokine signaling pathway_Homo sapiens_hsa049200.62641404
113Insulin resistance_Homo sapiens_hsa049310.62314325
114Pentose phosphate pathway_Homo sapiens_hsa000300.61456280
115Primary bile acid biosynthesis_Homo sapiens_hsa001200.59845589
116Insulin signaling pathway_Homo sapiens_hsa049100.58458606
117Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.57903176
118Amoebiasis_Homo sapiens_hsa051460.57860561
119AMPK signaling pathway_Homo sapiens_hsa041520.57796703
120Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.56297284
121Retinol metabolism_Homo sapiens_hsa008300.55469700
122Fatty acid degradation_Homo sapiens_hsa000710.55365677
123SNARE interactions in vesicular transport_Homo sapiens_hsa041300.54744170
124Tight junction_Homo sapiens_hsa045300.54661564
125AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.53868152
126Platelet activation_Homo sapiens_hsa046110.52726910
127Sphingolipid metabolism_Homo sapiens_hsa006000.52546678
128Tryptophan metabolism_Homo sapiens_hsa003800.52463465
129Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.50994044
130T cell receptor signaling pathway_Homo sapiens_hsa046600.50946983
131Histidine metabolism_Homo sapiens_hsa003400.50936195
132Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.49486718
133Peroxisome_Homo sapiens_hsa041460.48966954
134PPAR signaling pathway_Homo sapiens_hsa033200.47882752
135Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.46762978
136Chronic myeloid leukemia_Homo sapiens_hsa052200.46199748
137African trypanosomiasis_Homo sapiens_hsa051430.45148596
138Vibrio cholerae infection_Homo sapiens_hsa051100.45027759
139Lysine degradation_Homo sapiens_hsa003100.43281805
140Glucagon signaling pathway_Homo sapiens_hsa049220.42716970
141Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.42266344
142Pancreatic cancer_Homo sapiens_hsa052120.41014650
143Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.40659048
144Dilated cardiomyopathy_Homo sapiens_hsa054140.38934952
145Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.38235665
146beta-Alanine metabolism_Homo sapiens_hsa004100.35955619
147Viral myocarditis_Homo sapiens_hsa054160.35699686
148Steroid biosynthesis_Homo sapiens_hsa001000.33138783
149Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.32880584
150Thyroid hormone signaling pathway_Homo sapiens_hsa049190.32845912
151Fructose and mannose metabolism_Homo sapiens_hsa000510.32486826
152Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.32409332
153Endocytosis_Homo sapiens_hsa041440.30513119
154Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.29713839
155Arachidonic acid metabolism_Homo sapiens_hsa005900.29298748
156Regulation of actin cytoskeleton_Homo sapiens_hsa048100.29063266
157Transcriptional misregulation in cancer_Homo sapiens_hsa052020.29033369
158Thyroid cancer_Homo sapiens_hsa052160.28875412
159Metabolic pathways_Homo sapiens_hsa011000.26994078

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