CHIT1

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: Chitotriosidase is secreted by activated human macrophages and is markedly elevated in plasma of Gaucher disease patients. The expression of chitotriosidase occurs only at a late stage of differentiation of monocytes to activated macrophages in culture. Human macrophages can synthesize a functional chitotriosidase, a highly conserved enzyme with a strongly regulated expression. This enzyme may play a role in the degradation of chitin-containing pathogens. Several alternatively spliced transcript variants have been described for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1hemidesmosome assembly (GO:0031581)8.75054490
2multicellular organismal water homeostasis (GO:0050891)8.57037216
3oligosaccharide catabolic process (GO:0009313)8.32375951
4glycosphingolipid catabolic process (GO:0046479)8.07438975
5keratinocyte differentiation (GO:0030216)7.98605095
6keratinocyte proliferation (GO:0043616)7.30680123
7positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)7.30284541
8glycolipid catabolic process (GO:0019377)7.28756992
9water homeostasis (GO:0030104)7.28730964
10ceramide catabolic process (GO:0046514)6.62079749
11peptide cross-linking (GO:0018149)6.34179875
12sphingoid metabolic process (GO:0046519)6.32557509
13epidermal cell differentiation (GO:0009913)6.18933138
14bundle of His cell to Purkinje myocyte communication (GO:0086069)6.05270680
15viral transcription (GO:0019083)5.98259091
16regulation of cholesterol storage (GO:0010885)5.79733014
17molting cycle (GO:0042303)5.78481474
18hair cycle (GO:0042633)5.78481474
19positive regulation of bone resorption (GO:0045780)5.71642458
20positive regulation of bone remodeling (GO:0046852)5.71642458
21translational termination (GO:0006415)5.65077962
22long-chain fatty acid biosynthetic process (GO:0042759)5.55545210
23ribosomal small subunit biogenesis (GO:0042274)5.49704715
24regulation of phospholipase A2 activity (GO:0032429)5.45122503
25interferon-gamma secretion (GO:0072643)5.37112031
26epidermis development (GO:0008544)5.36637827
27keratinocyte development (GO:0003334)5.34485456
28sphingosine metabolic process (GO:0006670)5.32333723
29regulation of syncytium formation by plasma membrane fusion (GO:0060142)5.31664073
30* amino sugar catabolic process (GO:0046348)5.14728198
31intermediate filament organization (GO:0045109)5.09956289
32cellular response to thyroid hormone stimulus (GO:0097067)5.02277856
33regulation of cell proliferation involved in kidney development (GO:1901722)4.80333101
34positive regulation of interleukin-8 secretion (GO:2000484)4.71577129
35regulation of ruffle assembly (GO:1900027)4.68555805
36diol metabolic process (GO:0034311)4.68195242
37sphingolipid catabolic process (GO:0030149)4.67376769
38skin morphogenesis (GO:0043589)4.60127491
39membrane lipid catabolic process (GO:0046466)4.57183611
40osteoclast differentiation (GO:0030316)4.53533814
41translational elongation (GO:0006414)4.48323893
42cellular extravasation (GO:0045123)4.41754296
43response to peptidoglycan (GO:0032494)4.41395026
44SRP-dependent cotranslational protein targeting to membrane (GO:0006614)4.41087694
45viral life cycle (GO:0019058)4.37689527
46protein targeting to ER (GO:0045047)4.33990718
47ganglioside metabolic process (GO:0001573)4.33839814
48neutrophil activation involved in immune response (GO:0002283)4.31459464
49maturation of SSU-rRNA (GO:0030490)4.31409225
50cotranslational protein targeting to membrane (GO:0006613)4.30966204
51cellular protein complex disassembly (GO:0043624)4.30873604
52regulation of monocyte differentiation (GO:0045655)4.27547956
53regulation of chemokine secretion (GO:0090196)4.25835854
54establishment of protein localization to endoplasmic reticulum (GO:0072599)4.20049213
55fat-soluble vitamin biosynthetic process (GO:0042362)4.14688807
56nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)4.10020763
57linoleic acid metabolic process (GO:0043651)4.08065106
58response to thyroid hormone (GO:0097066)4.05889889
59protein localization to endoplasmic reticulum (GO:0070972)4.02854279
60phagosome maturation (GO:0090382)4.02358318
61negative regulation of interleukin-12 production (GO:0032695)3.99646699
62regulation of hypersensitivity (GO:0002883)3.98454838
63peptide catabolic process (GO:0043171)3.93948501
64cardiac right ventricle morphogenesis (GO:0003215)3.93933977
65N-acetylneuraminate metabolic process (GO:0006054)3.93242583
66keratan sulfate catabolic process (GO:0042340)3.89914195
67barbed-end actin filament capping (GO:0051016)3.88469479
68positive regulation of tissue remodeling (GO:0034105)3.87102509
69ribosomal small subunit assembly (GO:0000028)3.86369304
70negative regulation of nitric oxide biosynthetic process (GO:0045019)3.86224343
71apoptotic cell clearance (GO:0043277)3.86060572
72positive regulation of chemokine secretion (GO:0090197)3.83757917
73fatty acid elongation (GO:0030497)3.83020267
74myeloid dendritic cell differentiation (GO:0043011)3.82918204
75eosinophil chemotaxis (GO:0048245)3.71863860
76lipoxygenase pathway (GO:0019372)3.71736394
77positive regulation of monocyte chemotaxis (GO:0090026)3.64663031
78positive regulation of gamma-delta T cell activation (GO:0046645)3.64621944
79regulation of transforming growth factor beta1 production (GO:0032908)3.64515917
80regulation of interleukin-8 secretion (GO:2000482)3.62341649
81ectoderm development (GO:0007398)3.61385859
82positive regulation of macrophage derived foam cell differentiation (GO:0010744)3.60115398
83regulation of mononuclear cell migration (GO:0071675)3.58533412
84protein complex disassembly (GO:0043241)3.57542862
85negative regulation of stress fiber assembly (GO:0051497)3.53012367
86positive regulation of cholesterol efflux (GO:0010875)3.52531499
87translational initiation (GO:0006413)3.52418068
88gland morphogenesis (GO:0022612)3.47768791
89phosphatidylinositol acyl-chain remodeling (GO:0036149)3.45520631
90negative regulation of interleukin-2 production (GO:0032703)3.44390411
91positive regulation of toll-like receptor signaling pathway (GO:0034123)3.43559153
92negative regulation of cell fate specification (GO:0009996)3.42889874
93myeloid dendritic cell activation (GO:0001773)3.42882797
94immunoglobulin mediated immune response (GO:0016064)3.41543942
95eosinophil migration (GO:0072677)3.41505937
96regulation of toll-like receptor 4 signaling pathway (GO:0034143)3.40058963
97transferrin transport (GO:0033572)3.35974996
98regulation of superoxide anion generation (GO:0032928)3.35948709
99macrophage differentiation (GO:0030225)3.35413298
100iron ion import (GO:0097286)3.32838758
101atrioventricular valve morphogenesis (GO:0003181)3.32103583
102positive regulation of antigen processing and presentation (GO:0002579)3.31402663
103respiratory burst (GO:0045730)3.29313001
104macromolecular complex disassembly (GO:0032984)3.28444352
105fibrinolysis (GO:0042730)3.28428985
106ribosomal large subunit biogenesis (GO:0042273)3.27289720
107positive regulation of mast cell degranulation (GO:0043306)3.25668045
108positive regulation of mast cell activation involved in immune response (GO:0033008)3.25668045
109positive regulation of cellular amide metabolic process (GO:0034250)3.24957449
110intracellular pH reduction (GO:0051452)3.24376185
111pyrimidine-containing compound transmembrane transport (GO:0072531)3.23983857
112positive regulation of leukocyte degranulation (GO:0043302)3.23638998
113regulation of macrophage derived foam cell differentiation (GO:0010743)3.22647671
114prostanoid biosynthetic process (GO:0046457)3.21076446
115prostaglandin biosynthetic process (GO:0001516)3.21076446
116negative regulation of keratinocyte proliferation (GO:0010839)3.19617350
117negative regulation of kidney development (GO:0090185)3.17807470
118negative regulation of cell fate commitment (GO:0010454)3.17416086
119positive regulation of mast cell activation (GO:0033005)3.16630148
120positive regulation of interleukin-4 production (GO:0032753)3.16340185
121detection of bacterium (GO:0016045)3.15383097
122pH reduction (GO:0045851)3.14428864
123regulation of cardioblast differentiation (GO:0051890)3.14191137
124ferric iron transport (GO:0015682)3.12487597
125trivalent inorganic cation transport (GO:0072512)3.12487597
126plasma lipoprotein particle clearance (GO:0034381)3.11353035
127negative regulation of T cell mediated immunity (GO:0002710)3.09270267
128vitamin D metabolic process (GO:0042359)3.08706366
129protein targeting to membrane (GO:0006612)3.08409764
130positive regulation of osteoclast differentiation (GO:0045672)3.05431275
131positive regulation of vesicle fusion (GO:0031340)3.05147027
132regulation of bone resorption (GO:0045124)3.04252787
133pinocytosis (GO:0006907)3.03830180
134intermediate filament cytoskeleton organization (GO:0045104)3.02263311
135regulation of mast cell degranulation (GO:0043304)3.02040383
136positive regulation of sterol transport (GO:0032373)3.01332250
137positive regulation of cholesterol transport (GO:0032376)3.01332250
138dendritic cell differentiation (GO:0097028)3.00972087
139sympathetic nervous system development (GO:0048485)3.00635601
140negative regulation of axon extension involved in axon guidance (GO:0048843)3.00031120
141primary alcohol catabolic process (GO:0034310)2.99615730
142negative regulation of lipid storage (GO:0010888)2.99433642
143granulocyte activation (GO:0036230)2.99402274
144long-chain fatty-acyl-CoA metabolic process (GO:0035336)2.99371517
145detection of other organism (GO:0098543)2.97936207
146G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)2.96645886
147phosphatidylserine acyl-chain remodeling (GO:0036150)2.95389845
148cellular response to interferon-alpha (GO:0035457)2.94905421
149lytic vacuole organization (GO:0080171)2.94395322
150lysosome organization (GO:0007040)2.94395322
151positive regulation of myeloid leukocyte mediated immunity (GO:0002888)2.94067626
152negative regulation of interferon-gamma production (GO:0032689)2.93441544
153intermediate filament-based process (GO:0045103)2.92576224
154regulation of cholesterol esterification (GO:0010872)2.91315843
155regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.91302084
156positive regulation of glomerulus development (GO:0090193)2.89844067
157negative regulation of acute inflammatory response (GO:0002674)2.89747664
158eyelid development in camera-type eye (GO:0061029)2.87816385
159negative regulation of interleukin-1 beta production (GO:0032691)2.86559219
160macrophage activation involved in immune response (GO:0002281)2.85710666
161monocyte chemotaxis (GO:0002548)2.85618612
162cardiolipin metabolic process (GO:0032048)2.85610140
163cyclooxygenase pathway (GO:0019371)2.85103175
164mesenchymal to epithelial transition (GO:0060231)2.84456497
165negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.83684821
166regulation of leukocyte degranulation (GO:0043300)2.82796581
167inflammatory response to antigenic stimulus (GO:0002437)2.82219895
168phospholipid efflux (GO:0033700)2.81987568
169dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.81857386
170energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.81692167
171ATP hydrolysis coupled proton transport (GO:0015991)2.81692167
172decidualization (GO:0046697)2.80675594
173neutrophil chemotaxis (GO:0030593)2.80469453
174regulation of mast cell activation involved in immune response (GO:0033006)2.79804537
175negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.79415678
176regulation of monocyte chemotaxis (GO:0090025)2.79117736
177protein localization to endosome (GO:0036010)2.78259953
178lipopolysaccharide-mediated signaling pathway (GO:0031663)2.78206758
179iron ion transport (GO:0006826)2.77390670
180detection of molecule of bacterial origin (GO:0032490)2.77017930
181granulocyte chemotaxis (GO:0071621)2.76759333
182cell-substrate junction assembly (GO:0007044)2.76426939
183regulation of vitamin D biosynthetic process (GO:0060556)2.74265763
184neutrophil migration (GO:1990266)2.72967287
185low-density lipoprotein particle remodeling (GO:0034374)2.72740796
186mannose metabolic process (GO:0006013)2.72673289
187skin development (GO:0043588)2.71682294
188response to lipoprotein particle (GO:0055094)2.71216013
189lipid storage (GO:0019915)2.70734166
190detection of external biotic stimulus (GO:0098581)2.70430745
191regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.69290142
192chemical homeostasis within a tissue (GO:0048875)2.68405401
193limb bud formation (GO:0060174)2.68271554
194lateral sprouting from an epithelium (GO:0060601)2.67140108
195epithelium development (GO:0060429)2.66455831
196desmosome organization (GO:0002934)15.1460292
197establishment of skin barrier (GO:0061436)14.1445943
198keratinization (GO:0031424)13.5284530
199regulation of water loss via skin (GO:0033561)12.7780670

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.89273103
2TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse5.64585865
3IRF8_21731497_ChIP-ChIP_J774_Mouse5.63055265
4IRF8_27001747_Chip-Seq_BMDM_Mouse4.67795862
5NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human4.67194318
6BP1_19119308_ChIP-ChIP_Hs578T_Human4.19432222
7Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse4.02697653
8SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.88573508
9NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.58060911
10P63_26484246_Chip-Seq_KERATINOCYTES_Human3.25103608
11GATA1_22025678_ChIP-Seq_K562_Human3.10980495
12MYB_21317192_ChIP-Seq_ERMYB_Mouse3.10800898
13SOX9_24532713_ChIP-Seq_HFSC_Mouse3.10188449
14MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.04012932
15VDR_24787735_ChIP-Seq_THP-1_Human2.90309567
16ZNF263_19887448_ChIP-Seq_K562_Human2.52400626
17IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.46444626
18RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.41090836
19CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.40669246
20BRD4_27068464_Chip-Seq_AML-cells_Mouse2.37846836
21ESR1_21235772_ChIP-Seq_MCF-7_Human2.32728177
22STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.32072445
23* STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.30195540
24SPI1_23127762_ChIP-Seq_K562_Human2.27342264
25IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.22067927
26TRIM28_21343339_ChIP-Seq_HEK293_Human2.20174911
27SPI1_23547873_ChIP-Seq_NB4_Human2.20079115
28VDR_24763502_ChIP-Seq_THP-1_Human2.08887750
29SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.07306639
30SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.05616974
31SCL_19346495_ChIP-Seq_HPC-7_Human2.04530935
32TP63_17297297_ChIP-ChIP_HaCaT_Human17.0332149
33ESR2_21235772_ChIP-Seq_MCF-7_Human1.96890393
34SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.94189599
35SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.94189599
36STAT6_21828071_ChIP-Seq_BEAS2B_Human1.92983903
37* STAT4_19710469_ChIP-ChIP_TH1__Mouse1.92643502
38PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.90634719
39RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.90398190
40VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.82290195
41PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.82177701
42FOXO3_23340844_ChIP-Seq_DLD1_Human1.81325878
43PU_27001747_Chip-Seq_BMDM_Mouse1.74902485
44* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.73394440
45TFEB_21752829_ChIP-Seq_HELA_Human1.69538441
46MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.69497813
47RUNX1_22412390_ChIP-Seq_EML_Mouse1.65158987
48LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.61856884
49ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.58660608
50PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.56623724
51VDR_21846776_ChIP-Seq_THP-1_Human1.54176874
52ZNF217_24962896_ChIP-Seq_MCF-7_Human1.54033004
53LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.52163940
54NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.50822591
55NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.49023790
56E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.43679011
57CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.43408207
58* TP63_23658742_ChIP-Seq_EP156T_Human1.42208408
59GATA1_19941827_ChIP-Seq_MEL_Mouse1.40252554
60TCF4_18268006_ChIP-ChIP_LS174T_Human1.40222532
61TP63_22573176_ChIP-Seq_HFKS_Human1.38744167
62CJUN_26792858_Chip-Seq_BT549_Human1.36410481
63TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.36229011
64CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.35148947
65SOX2_20726797_ChIP-Seq_SW620_Human1.32189735
66BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.31901300
67HIF1A_21447827_ChIP-Seq_MCF-7_Human1.31036237
68* GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.30432869
69CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.29234141
70PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.29076126
71PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.25932495
72GATA1_19941826_ChIP-Seq_K562_Human1.25609038
73* RUNX1_27514584_Chip-Seq_MCF-7_Human1.23953617
74TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.21980207
75AR_21572438_ChIP-Seq_LNCaP_Human1.19905895
76GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.18989001
77GATA2_21666600_ChIP-Seq_HMVEC_Human1.18699541
78KLF5_25053715_ChIP-Seq_YYC3_Human1.18315494
79SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.17618583
80CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.17230311
81FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.16748320
82KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.15421215
83STAT1_20625510_ChIP-Seq_HELA_Human1.15267883
84CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.13901725
85SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.13112108
86* GATA6_21074721_ChIP-Seq_CACO-2_Human1.12403955
87MAF_26560356_Chip-Seq_TH1_Human1.09798379
88MYB_26560356_Chip-Seq_TH2_Human1.09793822
89FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.08257008
90FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.08047505
91KDM2B_26808549_Chip-Seq_SUP-B15_Human1.07576463
92SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.06898626
93SRY_22984422_ChIP-ChIP_TESTIS_Rat1.05826925
94CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.05109261
95TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.04875012
96TP53_20018659_ChIP-ChIP_R1E_Mouse1.03451916
97RXR_22108803_ChIP-Seq_LS180_Human1.02698253
98RUNX_20019798_ChIP-Seq_JUKART_Human1.02633077
99RARG_19884340_ChIP-ChIP_MEFs_Mouse1.02611659
100KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.02488220
101LXR_22158963_ChIP-Seq_LIVER_Mouse1.01874862
102STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.00719322
103GATA3_27048872_Chip-Seq_THYMUS_Human1.00396429
104CEBPB_22108803_ChIP-Seq_LS180_Human1.00374738
105RACK7_27058665_Chip-Seq_MCF-7_Human1.00369413
106GATA4_25053715_ChIP-Seq_YYC3_Human0.99216165
107EGR1_19374776_ChIP-ChIP_THP-1_Human0.98654384
108PPARA_22158963_ChIP-Seq_LIVER_Mouse0.97833581
109RXR_22158963_ChIP-Seq_LIVER_Mouse0.97515260
110ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.97232108
111GATA3_24758297_ChIP-Seq_MCF-7_Human0.96633602
112THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.95180662
113SUZ12_27294783_Chip-Seq_ESCs_Mouse0.93560469
114ATF3_27146783_Chip-Seq_COLON_Human0.93525612
115ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.92885962
116AHR_22903824_ChIP-Seq_MCF-7_Human0.91810295
117TP53_18474530_ChIP-ChIP_U2OS_Human0.91564924
118CTCF_27219007_Chip-Seq_Bcells_Human0.91499731
119UBF1/2_26484160_Chip-Seq_HMECs_Human0.91294237
120GATA2_19941826_ChIP-Seq_K562_Human0.90998104
121SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.90997120
122BCAT_22108803_ChIP-Seq_LS180_Human0.90678282
123SA1_27219007_Chip-Seq_ERYTHROID_Human0.88486220
124GATA3_26560356_Chip-Seq_TH2_Human0.88418449
125CDX2_20551321_ChIP-Seq_CACO-2_Human0.87499667
126GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.87023534
127P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.86967829
128GATA1_22383799_ChIP-Seq_G1ME_Mouse0.86730451
129GATA2_22383799_ChIP-Seq_G1ME_Mouse0.86223598
130IKZF1_21737484_ChIP-ChIP_HCT116_Human0.84425616
131FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.84112481
132FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.82876019
133UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.82852069
134YY1_22570637_ChIP-Seq_MALME-3M_Human0.82529785
135* CDX2_21074721_ChIP-Seq_CACO-2_Mouse0.81072124
136VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.80368215
137PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.80109215
138EZH2_27304074_Chip-Seq_ESCs_Mouse0.79758349
139* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78580480
140ELK3_25401928_ChIP-Seq_HUVEC_Human0.78353276
141GATA6_25053715_ChIP-Seq_YYC3_Human0.77703148
142GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.77388063
143MYB_26560356_Chip-Seq_TH1_Human0.76262458
144TCF4_22108803_ChIP-Seq_LS180_Human0.74951964
145GATA1_19941827_ChIP-Seq_MEL86_Mouse0.74646152
146PPAR_26484153_Chip-Seq_NCI-H1993_Human0.74185580
147SPI1_20517297_ChIP-Seq_HL60_Human0.74010257
148* BCL6_27268052_Chip-Seq_Bcells_Human0.73838303
149JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.73283383
150UTX_26944678_Chip-Seq_JUKART_Human0.72810348
151SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.72671403
152FOXM1_26456572_ChIP-Seq_MCF-7_Human0.72398528
153EZH2_27294783_Chip-Seq_ESCs_Mouse0.72362432
154SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.70971308
155ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.70691300
156CLOCK_20551151_ChIP-Seq_293T_Human0.70637973
157* RBPJ_21746931_ChIP-Seq_IB4_Human0.70553369
158CDX2_19796622_ChIP-Seq_MESCs_Mouse0.70182982
159GATA3_21867929_ChIP-Seq_TH1_Mouse0.68716913
160VDR_22108803_ChIP-Seq_LS180_Human0.67982764
161* HNFA_21074721_ChIP-Seq_CACO-2_Human0.67433640
162BCOR_27268052_Chip-Seq_Bcells_Human0.67028317
163BMI1_23680149_ChIP-Seq_NPCS_Mouse0.66606175
164* CTCF_20526341_ChIP-Seq_ESCs_Human0.66145281
165NANOG_20526341_ChIP-Seq_ESCs_Human0.65073010
166PHF8_20622853_ChIP-Seq_HELA_Human0.64556998
167BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.64230134
168TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.63383797
169JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.62932485
170EED_16625203_ChIP-ChIP_MESCs_Mouse0.62633389
171AUTS2_25519132_ChIP-Seq_293T-REX_Human0.61939281
172SMAD3_21741376_ChIP-Seq_HESCs_Human0.61311039
173RNF2_27304074_Chip-Seq_ESCs_Mouse0.60998743
174TP53_16413492_ChIP-PET_HCT116_Human0.60263493
175KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.59685062
176CBX2_22325352_ChIP-Seq_293T-Rex_Human0.59195386
177ESR1_20079471_ChIP-ChIP_T-47D_Human0.59015012
178JARID2_20075857_ChIP-Seq_MESCs_Mouse0.58583052
179* SA1_27219007_Chip-Seq_Bcells_Human0.58536059
180LXR_22292898_ChIP-Seq_THP-1_Human0.58416139
181HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.57904795
182ARNT_22903824_ChIP-Seq_MCF-7_Human0.56471384
183SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.56144568
184* SOX2_27498859_Chip-Seq_STOMACH_Mouse0.56008480
185PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.55925180
186SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.54529409
187PCGF4_22325352_ChIP-Seq_293T-Rex_Human0.54051924
188EGR1_19032775_ChIP-ChIP_M12_Human0.52069295
189ERG_21242973_ChIP-ChIP_JURKAT_Human0.51550932

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002796_impaired_skin_barrier8.13934611
2MP0005275_abnormal_skin_tensile5.73543627
3MP0003941_abnormal_skin_development5.15478393
4MP0005501_abnormal_skin_physiology4.99140677
5MP0010234_abnormal_vibrissa_follicle4.93792934
6MP0005058_abnormal_lysosome_morphology4.76367654
7MP0004381_abnormal_hair_follicle4.26197915
8MP0009840_abnormal_foam_cell3.92270427
9MP0000604_amyloidosis3.88267439
10MP0003172_abnormal_lysosome_physiology3.83803717
11MP0002060_abnormal_skin_morphology3.77404817
12MP0000383_abnormal_hair_follicle3.59275853
13MP0001216_abnormal_epidermal_layer3.57662427
14MP0002254_reproductive_system_inflammat3.50215229
15MP0006082_CNS_inflammation3.40363165
16MP0000579_abnormal_nail_morphology3.22658568
17MP0010771_integument_phenotype3.21881065
18MP0010678_abnormal_skin_adnexa3.18375313
19MP0003303_peritoneal_inflammation3.08822568
20MP0002098_abnormal_vibrissa_morphology2.89008377
21MP0000647_abnormal_sebaceous_gland2.86472440
22MP0003724_increased_susceptibility_to2.83726311
23MP0002139_abnormal_hepatobiliary_system2.82500250
24MP0004947_skin_inflammation2.74890064
25MP0003453_abnormal_keratinocyte_physiol2.74853484
26MP0002419_abnormal_innate_immunity2.73975104
27MP0005451_abnormal_body_composition2.58362401
28MP0003329_amyloid_beta_deposits2.56815695
29MP0001835_abnormal_antigen_presentation2.55451902
30MP0000566_synostosis2.55235049
31MP0000467_abnormal_esophagus_morphology2.44059413
32MP0005671_abnormal_response_to2.39227130
33MP0000377_abnormal_hair_follicle2.35568846
34MP0009785_altered_susceptibility_to2.29620223
35MP0000343_altered_response_to2.28489406
36MP0001790_abnormal_immune_system2.11622435
37MP0005387_immune_system_phenotype2.11622435
38MP0005025_abnormal_response_to2.09324010
39MP0009379_abnormal_foot_pigmentation2.07133873
40MP0000427_abnormal_hair_cycle2.05875541
41MP0009278_abnormal_bone_marrow2.05608677
42MP0002009_preneoplasia2.04716598
43MP0001346_abnormal_lacrimal_gland2.04156170
44MP0005365_abnormal_bile_salt2.01843602
45MP0003705_abnormal_hypodermis_morpholog1.98463850
46MP0002452_abnormal_antigen_presenting1.93883853
47MP0002998_abnormal_bone_remodeling1.92283911
48MP0005000_abnormal_immune_tolerance1.90927932
49MP0003075_altered_response_to1.89462128
50MP0003690_abnormal_glial_cell1.88892256
51MP0001853_heart_inflammation1.86446652
52MP0009931_abnormal_skin_appearance1.83549487
53MP0000762_abnormal_tongue_morphology1.75558738
54MP0005397_hematopoietic_system_phenotyp1.74094575
55MP0001545_abnormal_hematopoietic_system1.74094575
56MP0001191_abnormal_skin_condition1.72001743
57MP0003566_abnormal_cell_adhesion1.71751363
58MP0001533_abnormal_skeleton_physiology1.71227732
59MP0005257_abnormal_intraocular_pressure1.71004286
60MP0002723_abnormal_immune_serum1.63371426
61MP0003300_gastrointestinal_ulcer1.60117237
62MP0003195_calcinosis1.56539625
63MP0005464_abnormal_platelet_physiology1.55570468
64MP0003656_abnormal_erythrocyte_physiolo1.55144718
65MP0001800_abnormal_humoral_immune1.48949202
66MP0002090_abnormal_vision1.48932599
67MP0002420_abnormal_adaptive_immunity1.48571398
68MP0005167_abnormal_blood-brain_barrier1.47959234
69MP0001845_abnormal_inflammatory_respons1.47677731
70MP0001819_abnormal_immune_cell1.46424519
71MP0000685_abnormal_immune_system1.45190036
72MP0005310_abnormal_salivary_gland1.44237809
73MP0002405_respiratory_system_inflammati1.43381957
74MP0001851_eye_inflammation1.40555752
75MP0009333_abnormal_splenocyte_physiolog1.40257614
76MP0004185_abnormal_adipocyte_glucose1.39262996
77MP0001243_abnormal_dermal_layer1.37071616
78MP0000367_abnormal_coat/_hair1.35820670
79MP0009764_decreased_sensitivity_to1.35362912
80MP0000920_abnormal_myelination1.31873758
81MP0003806_abnormal_nucleotide_metabolis1.27807960
82MP0004883_abnormal_blood_vessel1.25542518
83MP0008469_abnormal_protein_level1.22626330
84MP0000569_abnormal_digit_pigmentation1.21031200
85MP0003448_altered_tumor_morphology1.20899057
86MP0000371_diluted_coat_color1.15868656
87MP0001188_hyperpigmentation1.12847779
88MP0001340_abnormal_eyelid_morphology1.09179668
89MP0008260_abnormal_autophagy1.08720515
90MP0002234_abnormal_pharynx_morphology1.06759484
91MP0000858_altered_metastatic_potential1.04574938
92MP0003136_yellow_coat_color1.04461382
93MP0002837_dystrophic_cardiac_calcinosis1.03924450
94MP0005166_decreased_susceptibility_to1.02625940
95MP0003632_abnormal_nervous_system1.01489735
96MP0008004_abnormal_stomach_pH0.96906321
97MP0005164_abnormal_response_to0.94652614
98MP0010030_abnormal_orbit_morphology0.94541491
99MP0004782_abnormal_surfactant_physiolog0.93978357
100MP0003634_abnormal_glial_cell0.92564039
101MP0000015_abnormal_ear_pigmentation0.92243694
102MP0000716_abnormal_immune_system0.92126038
103MP0010352_gastrointestinal_tract_polyps0.91975625
104MP0004510_myositis0.89541766
105MP0005023_abnormal_wound_healing0.87821519
106MP0010155_abnormal_intestine_physiology0.85627577
107MP0003795_abnormal_bone_structure0.85614055
108MP0002095_abnormal_skin_pigmentation0.85374533
109MP0003191_abnormal_cellular_cholesterol0.82599364
110MP0000627_abnormal_mammary_gland0.80409032
111MP0009763_increased_sensitivity_to0.78279148
112MP0005165_increased_susceptibility_to0.78218251
113MP0002177_abnormal_outer_ear0.77028179
114MP0003091_abnormal_cell_migration0.76258867
115MP0009053_abnormal_anal_canal0.75010145
116MP0000689_abnormal_spleen_morphology0.74714401
117MP0003879_abnormal_hair_cell0.74583579
118MP0000249_abnormal_blood_vessel0.72490198
119MP0001727_abnormal_embryo_implantation0.71307571
120MP0004808_abnormal_hematopoietic_stem0.70284583
121MP0006054_spinal_hemorrhage0.69657479
122MP0003183_abnormal_peptide_metabolism0.69642410
123MP0005379_endocrine/exocrine_gland_phen0.69524754
124MP0002006_tumorigenesis0.69170745
125MP0009384_cardiac_valve_regurgitation0.69119055
126MP0002429_abnormal_blood_cell0.68678058
127MP0010307_abnormal_tumor_latency0.68192149
128MP0009115_abnormal_fat_cell0.67544900
129MP0001958_emphysema0.65424428
130MP0010329_abnormal_lipoprotein_level0.64708152
131MP0005076_abnormal_cell_differentiation0.63966944
132MP0003631_nervous_system_phenotype0.63108620
133MP0002398_abnormal_bone_marrow0.62724535
134MP0005409_darkened_coat_color0.62517572
135MP0004130_abnormal_muscle_cell0.62439036
136MP0001784_abnormal_fluid_regulation0.62368042
137MP0002166_altered_tumor_susceptibility0.62130448
138MP0005319_abnormal_enzyme/_coenzyme0.62116316
139MP0000609_abnormal_liver_physiology0.61914243
140MP0003633_abnormal_nervous_system0.59484275
141MP0002118_abnormal_lipid_homeostasis0.59384191
142MP0002277_abnormal_respiratory_mucosa0.57537033
143MP0003011_delayed_dark_adaptation0.56291365
144MP0003436_decreased_susceptibility_to0.55541556
145MP0003315_abnormal_perineum_morphology0.55445341
146MP0001849_ear_inflammation0.53302270
147MP0000465_gastrointestinal_hemorrhage0.52032557
148MP0000538_abnormal_urinary_bladder0.51967031
149MP0002249_abnormal_larynx_morphology0.51903826
150MP0005075_abnormal_melanosome_morpholog0.51296778
151MP0002282_abnormal_trachea_morphology0.50793158
152MP0003763_abnormal_thymus_physiology0.49050646
153MP0003755_abnormal_palate_morphology0.46745255
154MP0003938_abnormal_ear_development0.46596780
155MP0002877_abnormal_melanocyte_morpholog0.43224610
156MP0000470_abnormal_stomach_morphology0.41145037
157MP0002111_abnormal_tail_morphology0.40971001
158MP0003638_abnormal_response/metabolism_0.40755493
159MP0004272_abnormal_basement_membrane0.38847795
160MP0002148_abnormal_hypersensitivity_rea0.38525441
161MP0004264_abnormal_extraembryonic_tissu0.35454660
162MP0003950_abnormal_plasma_membrane0.34955646
163MP0002233_abnormal_nose_morphology0.34158828
164MP0003828_pulmonary_edema0.33553674
165MP0003718_maternal_effect0.32923709
166MP0000537_abnormal_urethra_morphology0.32113489
167MP0003385_abnormal_body_wall0.31275461
168MP0005508_abnormal_skeleton_morphology0.31082046
169MP0001984_abnormal_olfaction0.30912740
170MP0005666_abnormal_adipose_tissue0.30761881
171MP0004019_abnormal_vitamin_homeostasis0.30726062
172MP0000432_abnormal_head_morphology0.30542634
173MP0009250_abnormal_appendicular_skeleto0.29571234
174MP0000613_abnormal_salivary_gland0.28453312
175MP0005647_abnormal_sex_gland0.25663302
176MP0001666_abnormal_nutrient_absorption0.23040607
177MP0003936_abnormal_reproductive_system0.22970679
178MP0005367_renal/urinary_system_phenotyp0.22652133
179MP0000516_abnormal_urinary_system0.22652133
180MP0005408_hypopigmentation0.22558315
181MP0008961_abnormal_basal_metabolism0.22002489
182MP0002109_abnormal_limb_morphology0.18827367
183MP0005390_skeleton_phenotype0.18726614
184MP0000750_abnormal_muscle_regeneration0.18714454
185MP0005187_abnormal_penis_morphology0.18638265
186MP0005193_abnormal_anterior_eye0.17939278
187MP0002132_abnormal_respiratory_system0.17839887

Predicted human phenotypes

RankGene SetZ-score
1Increased IgE level (HP:0003212)8.00443133
2Hypotrichosis (HP:0001006)7.40825712
3Plantar hyperkeratosis (HP:0007556)6.79423075
4Congenital nonbullous ichthyosiform erythroderma (HP:0007479)6.62111092
5Conjunctival hamartoma (HP:0100780)6.44380818
6Congenital ichthyosiform erythroderma (HP:0007431)6.36587293
7Vacuolated lymphocytes (HP:0001922)6.32024725
8Palmoplantar hyperkeratosis (HP:0000972)6.20382186
9Increased cerebral lipofuscin (HP:0011813)6.15514938
10Erythema (HP:0010783)6.05608421
11Erythroderma (HP:0001019)5.95785990
12Woolly hair (HP:0002224)5.95720372
13Palmar hyperkeratosis (HP:0010765)5.84206879
14Onycholysis (HP:0001806)5.80988499
15Fragile nails (HP:0001808)5.60222443
16Right ventricular cardiomyopathy (HP:0011663)5.54378818
17Lip pit (HP:0100267)5.10403864
18Increased neuronal autofluorescent lipopigment (HP:0002074)5.07406104
19Abnormality of macrophages (HP:0004311)5.06679535
20Parakeratosis (HP:0001036)5.00221679
21Disinhibition (HP:0000734)4.81089746
22Milia (HP:0001056)4.77019873
23Dysostosis multiplex (HP:0000943)4.71467487
24Loss of speech (HP:0002371)4.35218207
25Pili torti (HP:0003777)4.33178926
26Abnormal blistering of the skin (HP:0008066)4.32355361
27Myocardial infarction (HP:0001658)4.23252545
28Ectropion (HP:0000656)4.19569071
29Gangrene (HP:0100758)4.16278183
30Abnormality of nail color (HP:0100643)4.14849494
31Systemic lupus erythematosus (HP:0002725)4.00328681
32Abnormality of polysaccharide metabolism (HP:0011012)3.94644670
33Abnormality of glycosaminoglycan metabolism (HP:0004371)3.94644670
34Abnormality of mucopolysaccharide metabolism (HP:0011020)3.94644670
35Recurrent bacterial skin infections (HP:0005406)3.94189093
36Thick nail (HP:0001805)3.84041016
37Mucopolysacchariduria (HP:0008155)3.79394965
38Urinary glycosaminoglycan excretion (HP:0003541)3.79394965
39Autoimmune thrombocytopenia (HP:0001973)3.78862954
40Recurrent abscess formation (HP:0002722)3.77086879
41Hamartoma of the eye (HP:0010568)3.76381647
42Abnormality of the axillary hair (HP:0100134)3.71087937
43Abnormality of secondary sexual hair (HP:0009888)3.71087937
44Corneal erosion (HP:0200020)3.67366428
45Neurofibrillary tangles (HP:0002185)3.56908871
46Mutism (HP:0002300)3.53134515
47Recurrent gram-negative bacterial infections (HP:0005420)3.52761461
48Nail dystrophy (HP:0008404)3.52064290
49Apathy (HP:0000741)3.51267601
50Diminished motivation (HP:0000745)3.50137378
51Axonal loss (HP:0003447)3.47716986
52Popliteal pterygium (HP:0009756)3.44159605
53Reticulocytopenia (HP:0001896)3.37195478
54Hyporeflexia of lower limbs (HP:0002600)3.36794004
55Hypohidrosis (HP:0000966)3.36537989
56Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)3.31781781
57Sparse eyelashes (HP:0000653)3.31016085
58Distal lower limb muscle weakness (HP:0009053)3.21712686
59Abnormality of cells of the erythroid lineage (HP:0012130)3.21119634
60Palmoplantar keratoderma (HP:0000982)3.20233709
61Pruritus (HP:0000989)3.15926342
62Ventricular tachycardia (HP:0004756)3.14258219
63Natal tooth (HP:0000695)3.11667338
64Agnosia (HP:0010524)3.11649238
65Upper motor neuron abnormality (HP:0002127)3.10529953
66Sparse scalp hair (HP:0002209)3.03761865
67Advanced eruption of teeth (HP:0006288)3.00899167
68Metaphyseal irregularity (HP:0003025)2.99132873
69Hepatosplenomegaly (HP:0001433)2.92830831
70Abnormal hemoglobin (HP:0011902)2.86534304
71Atrophic scars (HP:0001075)2.84362443
72Acanthosis nigricans (HP:0000956)2.80520713
73Xanthomatosis (HP:0000991)2.79293731
74Purpura (HP:0000979)2.78150582
75Abnormality of the periventricular white matter (HP:0002518)2.76953500
76Inappropriate behavior (HP:0000719)2.76800935
77Poor head control (HP:0002421)2.74879782
78Concave nail (HP:0001598)2.72521536
79Congenital, generalized hypertrichosis (HP:0004540)2.70078051
80Mediastinal lymphadenopathy (HP:0100721)2.69023265
81Abnormal hair laboratory examination (HP:0003328)2.67698516
82Abnormal number of erythroid precursors (HP:0012131)2.62088538
83Ridged nail (HP:0001807)2.61712415
84Alopecia of scalp (HP:0002293)2.61271780
85Hypoplastic labia majora (HP:0000059)2.60981143
86Cerebral inclusion bodies (HP:0100314)2.60013319
87Aplasia cutis congenita (HP:0001057)2.58237332
88Curly hair (HP:0002212)2.57716995
89Nuclear cataract (HP:0100018)2.57668802
90Abnormality of the salivary glands (HP:0010286)2.57194094
91Neuronal loss in central nervous system (HP:0002529)2.56839222
92Prostate neoplasm (HP:0100787)2.55331966
93Progressive neurologic deterioration (HP:0002344)2.54090529
94Skin nodule (HP:0200036)2.49708278
95Protuberant abdomen (HP:0001538)2.48983595
96Epidermoid cyst (HP:0200040)2.47951388
97Asymmetric septal hypertrophy (HP:0001670)2.46860067
98Pterygium (HP:0001059)2.45405418
99Areflexia of lower limbs (HP:0002522)2.45221988
100Multiple enchondromatosis (HP:0005701)2.43974237
101Abnormality of the labia majora (HP:0012881)2.36722136
102Macrocytic anemia (HP:0001972)2.35521356
103Hypergammaglobulinemia (HP:0010702)2.34220710
104Dementia (HP:0000726)2.32351180
105Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.31257929
106Chronic obstructive pulmonary disease (HP:0006510)2.30716705
107Obstructive lung disease (HP:0006536)2.30716705
108Personality changes (HP:0000751)2.30407868
109Recurrent skin infections (HP:0001581)2.26382399
110Paralysis (HP:0003470)2.23393553
111Retinal atrophy (HP:0001105)2.23025076
112Thoracic kyphosis (HP:0002942)2.19949088
113Nausea (HP:0002018)2.19183745
114Pathologic fracture (HP:0002756)2.16909517
115Septate vagina (HP:0001153)2.16798485
116Conical tooth (HP:0000698)2.14574314
117Global brain atrophy (HP:0002283)2.11568671
118Cardiomegaly (HP:0001640)2.11511118
119Increased serum ferritin (HP:0003281)2.10494950
120T lymphocytopenia (HP:0005403)2.10210800
121Bone pain (HP:0002653)2.08213335
122Eczematoid dermatitis (HP:0000976)2.08125439
123Neoplasm of head and neck (HP:0012288)2.03776865
124Esophageal neoplasm (HP:0100751)2.03776865
125J-shaped sella turcica (HP:0002680)2.03476036
126Peripheral demyelination (HP:0011096)2.03468572
127Dry skin (HP:0000958)2.02834621
128Abnormality of the vasculature of the conjunctiva (HP:0008054)2.00635548
129Interstitial pulmonary disease (HP:0006530)2.00479787
130Abnormality of glycolipid metabolism (HP:0010969)10.7172306
131Abnormality of liposaccharide metabolism (HP:0010968)10.7172306
132Abnormality of glycosphingolipid metabolism (HP:0004343)10.7172306
133Petechiae (HP:0000967)1.99747956
134Hyperventilation (HP:0002883)1.98598286
135Pallor (HP:0000980)1.96918813
136Basal ganglia calcification (HP:0002135)1.96222959
137Ventricular fibrillation (HP:0001663)1.95500292
138Dehydration (HP:0001944)1.94663125
139Anhidrosis (HP:0000970)1.94598474
140Blepharitis (HP:0000498)1.94274371
141Glomerulonephritis (HP:0000099)1.93871419
142Increased CSF protein (HP:0002922)1.93522005
143Gingivitis (HP:0000230)1.93488370
144Prolonged neonatal jaundice (HP:0006579)1.92781194
145Esophageal atresia (HP:0002032)1.92178574
146Skin ulcer (HP:0200042)1.91157701
147Hamartoma (HP:0010566)1.90955180
148Absent eyebrow (HP:0002223)1.89467904
149Increased connective tissue (HP:0009025)1.88896687
150Recurrent fungal infections (HP:0002841)1.88710122
151Abnormality of the prostate (HP:0008775)1.88015547
152Oligodontia (HP:0000677)1.87687017
153Supranuclear gaze palsy (HP:0000605)1.87189637
154Hypoplasia of dental enamel (HP:0006297)1.86901441
155Brittle hair (HP:0002299)1.85449226
156Multiple lipomas (HP:0001012)1.85157415
157Abnormality of T cell number (HP:0011839)1.84296728
158Aplasia involving bones of the upper limbs (HP:0009823)1.83328081
159Aplasia of the phalanges of the hand (HP:0009802)1.83328081
160Aplasia involving bones of the extremities (HP:0009825)1.83328081
161Lack of skin elasticity (HP:0100679)1.83093529
162Abnormality of the gastric mucosa (HP:0004295)1.80483671
163Stomatitis (HP:0010280)1.80219125
164Abnormality of the lumbar spine (HP:0100712)1.79647307
165Stenosis of the external auditory canal (HP:0000402)1.79156120
166Amaurosis fugax (HP:0100576)1.78851467
167Fatigable weakness (HP:0003473)1.78389766
168Abnormality of the neuromuscular junction (HP:0003398)1.78389766
169Hyperhidrosis (HP:0000975)1.76734376
170Hypoparathyroidism (HP:0000829)1.76635285
171Abnormality of iron homeostasis (HP:0011031)1.73826838
172Premature loss of primary teeth (HP:0006323)1.72837337
173Hypodontia (HP:0000668)1.72446808
174Pulmonary infiltrates (HP:0002113)1.71533666
175Restrictive lung disease (HP:0002091)1.71252512
176Ulnar claw (HP:0001178)1.68872704
177Ovoid vertebral bodies (HP:0003300)1.68128291
178Steatorrhea (HP:0002570)1.67419768
179Malignant hyperthermia (HP:0002047)1.64299244
180Nasolacrimal duct obstruction (HP:0000579)1.63395091
181Exercise-induced myalgia (HP:0003738)1.62239542
182Hypercholesterolemia (HP:0003124)1.61570263
183Severe Myopia (HP:0011003)1.61125721
184Amyloidosis (HP:0011034)1.60969220
185Chronic mucocutaneous candidiasis (HP:0002728)1.60446320
186Recurrent cutaneous fungal infections (HP:0011370)1.60446320
187Fragile skin (HP:0001030)1.59270111
188Osteomyelitis (HP:0002754)1.57673440
189Melanocytic nevus (HP:0000995)1.57005920
190Combined immunodeficiency (HP:0005387)1.56122783
191Albinism (HP:0001022)1.55689501
192Orchitis (HP:0100796)1.55595462
193Tubulointerstitial fibrosis (HP:0005576)1.55564880
194Sepsis (HP:0100806)1.55095894
195Labial hypoplasia (HP:0000066)1.54431340
196Myopathic facies (HP:0002058)1.53783156
197Skin pits (HP:0100276)1.52046772
198Neonatal death (HP:0003811)1.51935540
199Trismus (HP:0000211)1.51757639

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAPKAPK35.57968764
2MST1R5.40116638
3MAP3K34.76695142
4MAP3K23.59653607
5MST43.42462648
6FER3.30265575
7PDK22.94727567
8RPS6KB22.88560038
9PIM22.86553225
10ACVR1B2.36169432
11TRPM72.32977691
12CSK2.30906390
13CAMKK22.29988421
14NEK92.14512314
15CAMK1D2.03732749
16FGFR21.88580638
17STK241.85595177
18DDR21.79402971
19ZAP701.78414413
20LRRK21.76989136
21TBK11.70182920
22PIK3CG1.69794446
23EPHB21.65060749
24MATK1.64918290
25MAP2K61.64615573
26BLK1.64032288
27MET1.61538784
28PRPF4B1.60374018
29TESK11.58446559
30MAP3K131.58224763
31TAOK21.57005387
32MAP4K11.51324691
33MAPKAPK51.49534276
34CDC42BPA1.48157684
35EPHA21.47477968
36ERN11.45414793
37FGFR11.44379589
38TESK21.42698910
39ERBB31.42040009
40ADRBK21.36506448
41MOS1.32760654
42NTRK21.31498540
43LATS11.29234151
44EEF2K1.22568859
45STK101.21565561
46SYK1.18642816
47JAK11.16800037
48TAOK11.16707756
49MARK31.15661903
50EPHA31.14642900
51CAMK1G1.12810776
52PTK61.12323686
53PDPK11.12223400
54TXK1.11310974
55MAP3K11.10979691
56FGFR41.08458501
57LYN1.08405955
58JAK31.07488297
59IRAK41.05469833
60FES1.04243279
61TTN1.02259604
62MAP3K111.01926228
63DYRK1B1.01697496
64OBSCN0.97662297
65BCR0.93112954
66MAP3K140.92957218
67MAPKAPK20.90725451
68TYK20.88868954
69PDK10.88599147
70BMPR20.88526412
71PAK40.88037763
72LCK0.83926628
73KIT0.83414507
74RPS6KA40.83096200
75CDK30.79988684
76CSF1R0.79514413
77FGFR30.78841384
78CDK60.76991717
79BTK0.76649523
80SGK30.75185958
81LIMK10.74104674
82DAPK20.72583939
83ARAF0.72519411
84IKBKB0.67931127
85IRAK30.67797092
86LATS20.66353254
87PRKG20.65655496
88IRAK20.65167214
89KSR20.64906032
90GRK10.64623345
91MAP2K20.63185213
92MAP3K60.62517816
93TAOK30.61349608
94TGFBR20.61058136
95TYRO30.59747313
96MAP2K30.58788383
97NME20.58039503
98PRKCI0.57784634
99RIPK40.57723057
100CAMKK10.57588001
101PRKD10.56268544
102MAPK150.55965590
103SGK20.55082069
104RPS6KA60.52523652
105MAPK70.50287515
106MAP3K50.50159398
107STK110.49051322
108MAP3K80.48278700
109IRAK10.48268844
110IKBKE0.48187166
111EIF2AK20.48055135
112TTK0.47474889
113ITK0.47096063
114GRK70.46927737
115SCYL20.45574073
116BRAF0.44591055
117ILK0.44477288
118MAP2K10.43905349
119STK30.43295810
120CAMK40.42936541
121RPS6KA10.42428995
122BRSK20.41688077
123EPHB10.41635371
124ERBB40.40527588
125PAK30.39629991
126TIE10.39103263
127CHUK0.38740962
128PRKD20.38521313
129DMPK0.38331647
130ADRBK10.37924012
131RIPK10.36457953
132FYN0.36128758
133AURKB0.35974448
134GSK3A0.34799976
135MAP3K120.34404804
136PRKCE0.33749689
137PIM10.33018088
138BMX0.32918797
139PRKCQ0.32550028
140RPS6KL10.32197508
141RPS6KC10.32197508
142PRKCD0.32144660
143EPHA40.32095891
144FGR0.32088452
145PTK20.32055341
146BMPR1B0.31093598
147DYRK30.29568412
148MAPK40.29428951
149CSNK1D0.28588014
150ABL10.26926686
151HCK0.26245689
152JAK20.25623913
153MAP2K40.25518529
154RPS6KA20.25266695
155MAPK120.22470138
156HIPK20.22380704
157ABL20.21864750

Predicted pathways (KEGG)

RankGene SetZ-score
1Ribosome_Homo sapiens_hsa030105.60900834
2Lysosome_Homo sapiens_hsa041424.86728534
3Cyanoamino acid metabolism_Homo sapiens_hsa004604.58698926
4Other glycan degradation_Homo sapiens_hsa005114.28675661
5Butirosin and neomycin biosynthesis_Homo sapiens_hsa005243.77217796
6Glycosaminoglycan degradation_Homo sapiens_hsa005313.68411383
7Sphingolipid metabolism_Homo sapiens_hsa006003.40868585
8Linoleic acid metabolism_Homo sapiens_hsa005913.30429251
9alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.11670896
10Arachidonic acid metabolism_Homo sapiens_hsa005903.09452758
11Rheumatoid arthritis_Homo sapiens_hsa053232.99546162
12Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.55124148
13Phagosome_Homo sapiens_hsa041452.43703627
14Osteoclast differentiation_Homo sapiens_hsa043802.41528189
15Phenylalanine metabolism_Homo sapiens_hsa003602.34133365
16Asthma_Homo sapiens_hsa053102.27700791
17Fatty acid elongation_Homo sapiens_hsa000622.22184075
18Leishmaniasis_Homo sapiens_hsa051402.21172655
19Tuberculosis_Homo sapiens_hsa051522.16192972
20Allograft rejection_Homo sapiens_hsa053302.08914154
21Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.01072531
22Histidine metabolism_Homo sapiens_hsa003402.00231861
23Ether lipid metabolism_Homo sapiens_hsa005651.94326024
24Basal cell carcinoma_Homo sapiens_hsa052171.85744815
25Autoimmune thyroid disease_Homo sapiens_hsa053201.83300716
26Graft-versus-host disease_Homo sapiens_hsa053321.82490131
27Staphylococcus aureus infection_Homo sapiens_hsa051501.76443879
28Toll-like receptor signaling pathway_Homo sapiens_hsa046201.70962393
29Antigen processing and presentation_Homo sapiens_hsa046121.63032360
30Intestinal immune network for IgA production_Homo sapiens_hsa046721.61895348
31p53 signaling pathway_Homo sapiens_hsa041151.55389576
32VEGF signaling pathway_Homo sapiens_hsa043701.52123064
33Vibrio cholerae infection_Homo sapiens_hsa051101.51024645
34Caffeine metabolism_Homo sapiens_hsa002321.45939632
35Retinol metabolism_Homo sapiens_hsa008301.42963773
36Phototransduction_Homo sapiens_hsa047441.42255853
37Malaria_Homo sapiens_hsa051441.42030574
38Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.40049824
39Type I diabetes mellitus_Homo sapiens_hsa049401.37675557
40Adherens junction_Homo sapiens_hsa045201.36929231
41Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.36395400
42Hedgehog signaling pathway_Homo sapiens_hsa043401.36158574
43Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.29800556
44* Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.25946720
45ECM-receptor interaction_Homo sapiens_hsa045121.25781615
46Axon guidance_Homo sapiens_hsa043601.23705635
47Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.22908701
48Chemical carcinogenesis_Homo sapiens_hsa052041.21922906
49NF-kappa B signaling pathway_Homo sapiens_hsa040641.21040375
50Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.20622858
51Amoebiasis_Homo sapiens_hsa051461.19721304
52PPAR signaling pathway_Homo sapiens_hsa033201.18003127
53Viral myocarditis_Homo sapiens_hsa054161.14485165
54Renin secretion_Homo sapiens_hsa049241.14412187
55Tyrosine metabolism_Homo sapiens_hsa003501.13221950
56Hippo signaling pathway_Homo sapiens_hsa043901.12140367
57B cell receptor signaling pathway_Homo sapiens_hsa046621.10066049
58Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.08834954
59Legionellosis_Homo sapiens_hsa051341.07645475
60TNF signaling pathway_Homo sapiens_hsa046681.07587086
61Galactose metabolism_Homo sapiens_hsa000521.07149623
62GnRH signaling pathway_Homo sapiens_hsa049121.06566513
63Tight junction_Homo sapiens_hsa045301.06350852
64Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.03019474
65Sphingolipid signaling pathway_Homo sapiens_hsa040710.99650015
66Proteoglycans in cancer_Homo sapiens_hsa052050.99417573
67Pancreatic secretion_Homo sapiens_hsa049720.97209410
68Melanogenesis_Homo sapiens_hsa049160.95515937
69Fructose and mannose metabolism_Homo sapiens_hsa000510.94247401
70Serotonergic synapse_Homo sapiens_hsa047260.92407435
71Pentose phosphate pathway_Homo sapiens_hsa000300.91590258
72Bladder cancer_Homo sapiens_hsa052190.90067770
73Influenza A_Homo sapiens_hsa051640.88009780
74Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.85908852
75Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.84159847
76MicroRNAs in cancer_Homo sapiens_hsa052060.82093265
77Chemokine signaling pathway_Homo sapiens_hsa040620.80948165
78Synaptic vesicle cycle_Homo sapiens_hsa047210.80370392
79Fat digestion and absorption_Homo sapiens_hsa049750.79397967
80Ovarian steroidogenesis_Homo sapiens_hsa049130.77614057
81Fatty acid biosynthesis_Homo sapiens_hsa000610.75599213
82Pertussis_Homo sapiens_hsa051330.74863039
83Vascular smooth muscle contraction_Homo sapiens_hsa042700.74672600
84RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.74029854
85Complement and coagulation cascades_Homo sapiens_hsa046100.72216189
86Sulfur metabolism_Homo sapiens_hsa009200.71752577
87Leukocyte transendothelial migration_Homo sapiens_hsa046700.71219359
88Ras signaling pathway_Homo sapiens_hsa040140.70958860
89Platelet activation_Homo sapiens_hsa046110.68540213
90beta-Alanine metabolism_Homo sapiens_hsa004100.67853597
91Steroid biosynthesis_Homo sapiens_hsa001000.67477215
92Apoptosis_Homo sapiens_hsa042100.66780948
93Toxoplasmosis_Homo sapiens_hsa051450.66458791
94NOD-like receptor signaling pathway_Homo sapiens_hsa046210.66309911
95Salivary secretion_Homo sapiens_hsa049700.65651950
96ABC transporters_Homo sapiens_hsa020100.64754862
97Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.61487599
98TGF-beta signaling pathway_Homo sapiens_hsa043500.61323915
99Long-term depression_Homo sapiens_hsa047300.60283429
100Jak-STAT signaling pathway_Homo sapiens_hsa046300.58968285
101Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.57440908
102Wnt signaling pathway_Homo sapiens_hsa043100.57055207
103Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.56501305
104Glutathione metabolism_Homo sapiens_hsa004800.53783426
105Herpes simplex infection_Homo sapiens_hsa051680.52995464
106Shigellosis_Homo sapiens_hsa051310.52240336
107Small cell lung cancer_Homo sapiens_hsa052220.50743779
108Measles_Homo sapiens_hsa051620.50694936
109Glycerophospholipid metabolism_Homo sapiens_hsa005640.49905893
110Rap1 signaling pathway_Homo sapiens_hsa040150.49507303
111Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.48185074
112Gastric acid secretion_Homo sapiens_hsa049710.47500957
113Acute myeloid leukemia_Homo sapiens_hsa052210.47284441
114Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.47256591
115Hepatitis C_Homo sapiens_hsa051600.46019145
116Phosphatidylinositol signaling system_Homo sapiens_hsa040700.45765602
117Hepatitis B_Homo sapiens_hsa051610.45235441
118Mineral absorption_Homo sapiens_hsa049780.43623980
119Renin-angiotensin system_Homo sapiens_hsa046140.43329035
120Circadian rhythm_Homo sapiens_hsa047100.42359702
121ErbB signaling pathway_Homo sapiens_hsa040120.41963782
122Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.40396224
123Calcium signaling pathway_Homo sapiens_hsa040200.39709232
124African trypanosomiasis_Homo sapiens_hsa051430.39623128
125Prion diseases_Homo sapiens_hsa050200.39541042
126HIF-1 signaling pathway_Homo sapiens_hsa040660.37625954
127Oxytocin signaling pathway_Homo sapiens_hsa049210.37399462
128Neurotrophin signaling pathway_Homo sapiens_hsa047220.37387643
129Thyroid cancer_Homo sapiens_hsa052160.37349609
130Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.37149175
131SNARE interactions in vesicular transport_Homo sapiens_hsa041300.36911787
132Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.36851934
133Protein digestion and absorption_Homo sapiens_hsa049740.36409371
134Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.35174264
135AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.35024811
136Pathways in cancer_Homo sapiens_hsa052000.34059457
137Hematopoietic cell lineage_Homo sapiens_hsa046400.33552864
138Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.33528734
139Transcriptional misregulation in cancer_Homo sapiens_hsa052020.33257430
140Carbohydrate digestion and absorption_Homo sapiens_hsa049730.32559586
141Collecting duct acid secretion_Homo sapiens_hsa049660.31974364
142Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.31140772
143Inositol phosphate metabolism_Homo sapiens_hsa005620.30644389
144Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.30624198
145Type II diabetes mellitus_Homo sapiens_hsa049300.29851456
146Cardiac muscle contraction_Homo sapiens_hsa042600.29444563
147Steroid hormone biosynthesis_Homo sapiens_hsa001400.29251234
148Primary immunodeficiency_Homo sapiens_hsa053400.29029927
149Primary bile acid biosynthesis_Homo sapiens_hsa001200.28897736
150Salmonella infection_Homo sapiens_hsa051320.28007323
151Estrogen signaling pathway_Homo sapiens_hsa049150.27873520
152Regulation of actin cytoskeleton_Homo sapiens_hsa048100.27284320
153T cell receptor signaling pathway_Homo sapiens_hsa046600.27271258
154MAPK signaling pathway_Homo sapiens_hsa040100.27077323
155Endocytosis_Homo sapiens_hsa041440.26636246
156Adipocytokine signaling pathway_Homo sapiens_hsa049200.26042246
157Dorso-ventral axis formation_Homo sapiens_hsa043200.24892544
158Prolactin signaling pathway_Homo sapiens_hsa049170.24844510
159Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.22266744
160Notch signaling pathway_Homo sapiens_hsa043300.21847324
161Systemic lupus erythematosus_Homo sapiens_hsa053220.21082817
162Glycerolipid metabolism_Homo sapiens_hsa005610.20942883
163Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.19292237
164Epstein-Barr virus infection_Homo sapiens_hsa051690.15472491
165Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.15281795
166Insulin resistance_Homo sapiens_hsa049310.15161040

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