CD44

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 protein encoded by this gene is a cell-surface glycoprotein involved in cell-cell interactions, cell adhesion and migration. It is a receptor for hyaluronic acid (HA) and can also interact with other ligands, such as osteopontin, collagens, and matrix metalloproteinases (MMPs). This protein participates in a wide variety of cellular functions including lymphocyte activation, recirculation and homing, hematopoiesis, and tumor metastasis. Transcripts for this gene undergo complex alternative splicing that results in many functionally distinct isoforms, however, the full length nature of some of these variants has not been determined. Alternative splicing is the basis for the structural and functional diversity of this protein, and may be related to tumor metastasis. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.41678954
2neutrophil activation involved in immune response (GO:0002283)5.14562365
3positive regulation by symbiont of host defense response (GO:0052509)5.02572446
4modulation by symbiont of host defense response (GO:0052031)5.02572446
5modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.02572446
6modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.02572446
7positive regulation by organism of defense response of other organism involved in symbiotic interact5.02572446
8modulation by symbiont of host immune response (GO:0052553)5.02572446
9regulation of vitamin D biosynthetic process (GO:0060556)4.79503893
10response to peptidoglycan (GO:0032494)4.34190047
11neutrophil activation (GO:0042119)3.83932957
12granulocyte activation (GO:0036230)3.82420792
13response to muramyl dipeptide (GO:0032495)3.77433664
14regulation of vitamin metabolic process (GO:0030656)3.74379424
15positive regulation of interferon-alpha production (GO:0032727)3.69406519
16regulation of interferon-beta biosynthetic process (GO:0045357)3.65330577
17macrophage activation involved in immune response (GO:0002281)3.57550023
18immunoglobulin mediated immune response (GO:0016064)3.57366958
19regulation of interferon-alpha production (GO:0032647)3.54763834
20protein localization to endosome (GO:0036010)3.40785294
21negative regulation of nitric oxide biosynthetic process (GO:0045019)3.37243323
22response to host immune response (GO:0052572)3.35773803
23response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.35773803
24cell adhesion mediated by integrin (GO:0033627)3.35669310
25skin morphogenesis (GO:0043589)3.35636902
26respiratory burst (GO:0045730)3.29817118
27regulation of interleukin-12 biosynthetic process (GO:0045075)3.24575356
28positive regulation of natural killer cell differentiation (GO:0032825)3.23758576
29positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.22861020
30positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.21819895
31wound healing, spreading of epidermal cells (GO:0035313)3.21658018
32positive regulation of membrane protein ectodomain proteolysis (GO:0051044)3.19956832
33lipopolysaccharide-mediated signaling pathway (GO:0031663)3.19476314
34regulation of chronic inflammatory response (GO:0002676)3.17744855
35response to host defenses (GO:0052200)3.14191670
36response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.14191670
37response to host (GO:0075136)3.14191670
38regulation of syncytium formation by plasma membrane fusion (GO:0060142)3.10575300
39regulation of chemokine biosynthetic process (GO:0045073)3.09895752
40regulation of membrane protein ectodomain proteolysis (GO:0051043)3.09819428
41positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.08843208
42positive regulation of gamma-delta T cell activation (GO:0046645)3.08119397
43membrane raft organization (GO:0031579)3.07327600
44regulation of dendritic cell antigen processing and presentation (GO:0002604)3.05399022
45natural killer cell mediated cytotoxicity (GO:0042267)3.04385120
46natural killer cell mediated immunity (GO:0002228)3.04385120
47production of molecular mediator involved in inflammatory response (GO:0002532)3.02044189
48myeloid cell activation involved in immune response (GO:0002275)2.98130409
49Arp2/3 complex-mediated actin nucleation (GO:0034314)2.97730533
50antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.96396460
51antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.96396460
52hemidesmosome assembly (GO:0031581)2.95562594
53positive regulation of cellular amide metabolic process (GO:0034250)2.95194316
54negative regulation of interleukin-12 production (GO:0032695)2.92753990
55antigen processing and presentation of endogenous antigen (GO:0019883)2.91674117
56regulation of cytokine secretion involved in immune response (GO:0002739)2.91550400
57positive regulation of macrophage differentiation (GO:0045651)2.91091209
58positive regulation of chemokine biosynthetic process (GO:0045080)2.90257456
59positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.89512555
60regulation of T-helper 1 cell differentiation (GO:0045625)2.89279497
61NIK/NF-kappaB signaling (GO:0038061)2.88106029
62myeloid dendritic cell differentiation (GO:0043011)2.87747421
63positive regulation of natural killer cell activation (GO:0032816)2.87700450
64myeloid dendritic cell activation (GO:0001773)2.86318260
65positive regulation of interferon-beta production (GO:0032728)2.85098687
66positive regulation of mast cell activation (GO:0033005)2.83084629
67hypotonic response (GO:0006971)2.82795391
68regulation of mononuclear cell migration (GO:0071675)2.81523103
69negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.80584650
70negative regulation of cell killing (GO:0031342)2.80584650
71B cell mediated immunity (GO:0019724)2.78161231
72virion attachment to host cell (GO:0019062)2.77861293
73adhesion of symbiont to host cell (GO:0044650)2.77861293
74positive regulation of mast cell activation involved in immune response (GO:0033008)2.76089033
75positive regulation of mast cell degranulation (GO:0043306)2.76089033
76cellular extravasation (GO:0045123)2.74146764
77microglial cell activation (GO:0001774)2.73509382
78substrate-dependent cell migration (GO:0006929)2.71456273
79response to interferon-alpha (GO:0035455)2.71046125
80detection of molecule of bacterial origin (GO:0032490)2.70417866
81regulation of mast cell degranulation (GO:0043304)2.68879929
82regulation of B cell receptor signaling pathway (GO:0050855)2.68617632
83positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.67239417
84regulation of mast cell activation (GO:0033003)2.67006017
85macrophage activation (GO:0042116)2.66271800
86leukocyte mediated cytotoxicity (GO:0001909)2.66213827
87myeloid leukocyte activation (GO:0002274)2.63887565
88response to protozoan (GO:0001562)2.63684319
89regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.62223112
90positive regulation of myeloid leukocyte cytokine production involved in immune response (GO:00610812.61910425
91response to type I interferon (GO:0034340)2.61888672
92positive regulation of antigen processing and presentation (GO:0002579)2.61376782
93regulation of type I interferon-mediated signaling pathway (GO:0060338)2.61301904
94cellular response to type I interferon (GO:0071357)2.60630334
95type I interferon signaling pathway (GO:0060337)2.60630334
96positive regulation of interleukin-12 production (GO:0032735)2.59109167
97wound healing, spreading of cells (GO:0044319)2.58974812
98positive regulation of heat generation (GO:0031652)2.58277806
99positive regulation of astrocyte differentiation (GO:0048711)2.57493532
100positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.56708946
101* interferon-gamma-mediated signaling pathway (GO:0060333)2.56582447
102positive regulation of monocyte chemotaxis (GO:0090026)2.56410473
103cellular response to interferon-alpha (GO:0035457)2.55641587
104dendritic cell differentiation (GO:0097028)2.55623346
105superoxide anion generation (GO:0042554)2.55117409
106regulation of antigen processing and presentation (GO:0002577)2.54967391
107regulation of integrin activation (GO:0033623)2.54908280
108hepatocyte apoptotic process (GO:0097284)2.54348374
109positive regulation of NF-kappaB import into nucleus (GO:0042346)2.53610302
110regulation of monocyte chemotaxis (GO:0090025)2.53421307
111hydrogen peroxide biosynthetic process (GO:0050665)2.52981695
112negative regulation of monooxygenase activity (GO:0032769)2.52898534
113positive regulation of tumor necrosis factor production (GO:0032760)2.52756863
114regulation of mast cell activation involved in immune response (GO:0033006)2.52378774
115stress fiber assembly (GO:0043149)2.52249866
116cytokine secretion (GO:0050663)2.51381486
117regulation of podosome assembly (GO:0071801)2.51236327
118positive regulation of interleukin-6 production (GO:0032755)2.50832814
119neutrophil mediated immunity (GO:0002446)2.50687827
120monocyte chemotaxis (GO:0002548)2.49865979
121positive regulation of cytokine biosynthetic process (GO:0042108)2.49795540
122negative regulation of interleukin-17 production (GO:0032700)2.49770969
123defense response to protozoan (GO:0042832)2.49527234
124regulation of natural killer cell differentiation (GO:0032823)2.48934830
125* leukocyte cell-cell adhesion (GO:0007159)2.47820652
126mammary gland epithelial cell proliferation (GO:0033598)2.47612260
127regulation of interleukin-8 biosynthetic process (GO:0045414)2.47360437
128regulation of macrophage cytokine production (GO:0010935)2.47227540
129pinocytosis (GO:0006907)2.40152525
130regulation of nitric oxide biosynthetic process (GO:0045428)2.39747825
131negative regulation of cytokine production involved in immune response (GO:0002719)2.39640637
132regulation of response to interferon-gamma (GO:0060330)2.39115455
133regulation of interleukin-2 biosynthetic process (GO:0045076)2.38830309
134regulation of T cell tolerance induction (GO:0002664)2.38744972
135negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.38256614
136regulation of natural killer cell activation (GO:0032814)2.37641406
137endodermal cell differentiation (GO:0035987)2.35756405
138germinal center formation (GO:0002467)2.35711568
139regulation of interleukin-17 production (GO:0032660)2.33659211
140barbed-end actin filament capping (GO:0051016)2.32779559
141antigen processing and presentation via MHC class Ib (GO:0002475)2.32433562
142T-helper 1 type immune response (GO:0042088)2.32363012
143decidualization (GO:0046697)2.32129580
144regulation of interferon-gamma-mediated signaling pathway (GO:0060334)2.31989934
145positive regulation of macrophage cytokine production (GO:0060907)2.30913737
146regulation of interleukin-12 production (GO:0032655)2.30318247
147mesodermal cell differentiation (GO:0048333)2.30274447
148mature B cell differentiation involved in immune response (GO:0002313)2.29180836
149regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.29129247
150regulation of natural killer cell mediated immunity (GO:0002715)2.29129247
151positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)2.28971436
152adhesion of symbiont to host (GO:0044406)2.28629322
153positive regulation of isotype switching (GO:0045830)2.27584619
154positive regulation of extracellular matrix organization (GO:1903055)2.27474821
155cellular response to thyroid hormone stimulus (GO:0097067)2.26232014

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human5.09890202
2IRF8_21731497_ChIP-ChIP_J774_Mouse4.90022834
3TP63_17297297_ChIP-ChIP_HaCaT_Human4.85039484
4BP1_19119308_ChIP-ChIP_Hs578T_Human4.29353291
5EGR1_19374776_ChIP-ChIP_THP-1_Human4.10768931
6* FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.02762810
7IRF8_27001747_Chip-Seq_BMDM_Mouse3.45504739
8* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.41409238
9* STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.30650431
10MYB_21317192_ChIP-Seq_ERMYB_Mouse3.30520809
11NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.25875186
12NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.14579986
13MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.05055541
14Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse3.01973797
15* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.99831270
16IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.99423460
17TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.85980180
18* STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.77618645
19IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.48581641
20TRIM28_21343339_ChIP-Seq_HEK293_Human2.40616569
21STAT4_19710469_ChIP-ChIP_TH1__Mouse2.28117132
22SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.21904221
23* BRD4_27068464_Chip-Seq_AML-cells_Mouse2.19756315
24SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.06556452
25NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.04395956
26RARG_19884340_ChIP-ChIP_MEFs_Mouse1.98268576
27SPI1_23547873_ChIP-Seq_NB4_Human1.96561716
28SMAD_19615063_ChIP-ChIP_OVARY_Human1.85887747
29VDR_24763502_ChIP-Seq_THP-1_Human1.83199374
30ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.82099444
31* MYB_26560356_Chip-Seq_TH2_Human1.81874618
32STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.79731826
33SCL_19346495_ChIP-Seq_HPC-7_Human1.75147962
34* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.71630343
35* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.71630343
36PU_27001747_Chip-Seq_BMDM_Mouse1.69439012
37* RUNX_20019798_ChIP-Seq_JUKART_Human1.67005683
38MAF_26560356_Chip-Seq_TH1_Human1.62858441
39RUNX1_22412390_ChIP-Seq_EML_Mouse1.62393906
40VDR_24787735_ChIP-Seq_THP-1_Human1.60596427
41* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.60384472
42FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.53788086
43TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.53424346
44STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.52827199
45VDR_21846776_ChIP-Seq_THP-1_Human1.51088706
46RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.51035380
47STAT6_21828071_ChIP-Seq_BEAS2B_Human1.49935214
48* MYB_26560356_Chip-Seq_TH1_Human1.49685792
49GATA2_21666600_ChIP-Seq_HMVEC_Human1.48740892
50SPI1_23127762_ChIP-Seq_K562_Human1.44011870
51SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.43245368
52CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.42805191
53* PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.40827954
54RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.37739945
55* CJUN_26792858_Chip-Seq_BT549_Human1.34089413
56* CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.32171405
57CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.31181798
58E2F7_22180533_ChIP-Seq_HELA_Human1.29415371
59CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.29149849
60* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.28543323
61* ELK3_25401928_ChIP-Seq_HUVEC_Human1.26742940
62ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.25096030
63PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.24662346
64GATA1_22025678_ChIP-Seq_K562_Human1.23513930
65JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.20379495
66TCF7_22412390_ChIP-Seq_EML_Mouse1.20109430
67NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.17387508
68* SOX2_20726797_ChIP-Seq_SW620_Human1.15177368
69HIF1A_21447827_ChIP-Seq_MCF-7_Human1.14416013
70* UTX_26944678_Chip-Seq_JUKART_Human1.14340046
71JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.12273798
72GATA3_27048872_Chip-Seq_THYMUS_Human1.10800285
73SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.09915403
74MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.08523011
75* BRD4_25478319_ChIP-Seq_HGPS_Human1.08241673
76ESR2_21235772_ChIP-Seq_MCF-7_Human1.07555892
77ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.06728781
78FOXO3_23340844_ChIP-Seq_DLD1_Human1.06053106
79KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.05146306
80FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.04988983
81KDM2B_26808549_Chip-Seq_SUP-B15_Human1.04776539
82P63_26484246_Chip-Seq_KERATINOCYTES_Human1.04722036
83CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.03713789
84GATA2_22383799_ChIP-Seq_G1ME_Mouse1.03527371
85MYC_22102868_ChIP-Seq_BL_Human1.03151556
86FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.02912661
87VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.02550094
88KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.00837121
89PPAR_26484153_Chip-Seq_NCI-H1993_Human0.99848281
90ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.99796215
91NOTCH1_21737748_ChIP-Seq_TLL_Human0.98712984
92* CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.97851945
93UBF1/2_26484160_Chip-Seq_HMECs_Human0.97835773
94CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.97694539
95ATF3_27146783_Chip-Seq_COLON_Human0.97318298
96* P300_27058665_Chip-Seq_ZR-75-30cells_Human0.96555145
97* GATA3_26560356_Chip-Seq_TH2_Human0.95894237
98NRF2_20460467_ChIP-Seq_MEFs_Mouse0.95713681
99NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.95713681
100* SOX9_24532713_ChIP-Seq_HFSC_Mouse0.95686012
101TFEB_21752829_ChIP-Seq_HELA_Human0.94812438
102CLOCK_20551151_ChIP-Seq_293T_Human0.91403630
103FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.91077010
104E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human0.90130146
105SALL4_18804426_ChIP-ChIP_XEN_Mouse0.89272571
106* TP63_23658742_ChIP-Seq_EP156T_Human0.89135082
107SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.88518925
108HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.88238989
109TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse0.87986823
110ELK1_19687146_ChIP-ChIP_HELA_Human0.87696112
111* KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.87422329
112* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.86992811
113PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.86908021
114LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.86788985
115TP53_16413492_ChIP-PET_HCT116_Human0.83554069
116TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.81465366
117* ESR1_21235772_ChIP-Seq_MCF-7_Human0.80665462

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation3.43322587
2* MP0003436_decreased_susceptibility_to3.41693929
3MP0003303_peritoneal_inflammation3.10039381
4MP0009785_altered_susceptibility_to2.92070076
5* MP0002148_abnormal_hypersensitivity_rea2.68507005
6* MP0002419_abnormal_innate_immunity2.60692790
7* MP0005000_abnormal_immune_tolerance2.58988124
8MP0003724_increased_susceptibility_to2.39806605
9MP0000685_abnormal_immune_system2.37679642
10MP0003950_abnormal_plasma_membrane2.36401981
11* MP0005025_abnormal_response_to2.29979071
12MP0008438_abnormal_cutaneous_collagen2.27097137
13MP0002452_abnormal_antigen_presenting2.24235464
14* MP0001790_abnormal_immune_system2.17809700
15* MP0005387_immune_system_phenotype2.17809700
16* MP0001533_abnormal_skeleton_physiology2.10292163
17MP0003300_gastrointestinal_ulcer2.03754300
18MP0001800_abnormal_humoral_immune2.03238594
19MP0003566_abnormal_cell_adhesion2.02070088
20MP0002723_abnormal_immune_serum2.01959993
21MP0005671_abnormal_response_to1.98925377
22MP0004947_skin_inflammation1.93264832
23MP0006082_CNS_inflammation1.92611421
24MP0010352_gastrointestinal_tract_polyps1.92102791
25MP0001853_heart_inflammation1.88653360
26MP0004510_myositis1.87544906
27* MP0001819_abnormal_immune_cell1.87104207
28MP0002405_respiratory_system_inflammati1.85979339
29* MP0002420_abnormal_adaptive_immunity1.85814684
30MP0003448_altered_tumor_morphology1.81946621
31MP0003705_abnormal_hypodermis_morpholog1.80206590
32MP0000858_altered_metastatic_potential1.73742575
33MP0002006_tumorigenesis1.73199974
34MP0009840_abnormal_foam_cell1.73075105
35MP0005275_abnormal_skin_tensile1.71515997
36MP0005464_abnormal_platelet_physiology1.70544200
37MP0002933_joint_inflammation1.68616722
38MP0000343_altered_response_to1.68328595
39MP0005058_abnormal_lysosome_morphology1.67492300
40MP0009278_abnormal_bone_marrow1.66315308
41MP0010155_abnormal_intestine_physiology1.66168438
42MP0002166_altered_tumor_susceptibility1.64976979
43MP0002877_abnormal_melanocyte_morpholog1.63732552
44MP0001545_abnormal_hematopoietic_system1.59914478
45MP0005397_hematopoietic_system_phenotyp1.59914478
46MP0005023_abnormal_wound_healing1.57368203
47MP0002998_abnormal_bone_remodeling1.55847727
48MP0001845_abnormal_inflammatory_respons1.55721994
49MP0000569_abnormal_digit_pigmentation1.54631876
50MP0005076_abnormal_cell_differentiation1.52263551
51MP0000015_abnormal_ear_pigmentation1.44742356
52MP0003279_aneurysm1.41387221
53MP0009764_decreased_sensitivity_to1.39753476
54MP0003091_abnormal_cell_migration1.38803267
55* MP0005390_skeleton_phenotype1.38462178
56MP0003453_abnormal_keratinocyte_physiol1.38311355
57* MP0000716_abnormal_immune_system1.34480007
58MP0002398_abnormal_bone_marrow1.33349500
59MP0009333_abnormal_splenocyte_physiolog1.33086860
60MP0000465_gastrointestinal_hemorrhage1.31214159
61MP0005451_abnormal_body_composition1.28233852
62MP0004808_abnormal_hematopoietic_stem1.28148425
63MP0008004_abnormal_stomach_pH1.28119650
64MP0002396_abnormal_hematopoietic_system1.27011252
65MP0000371_diluted_coat_color1.26966954
66MP0002060_abnormal_skin_morphology1.22772199
67MP0001958_emphysema1.22067901
68MP0003828_pulmonary_edema1.21683473
69MP0005171_absent_coat_pigmentation1.19555733
70MP0004381_abnormal_hair_follicle1.18739938
71MP0008469_abnormal_protein_level1.16447759
72MP0006054_spinal_hemorrhage1.14649196
73MP0005408_hypopigmentation1.12696438
74* MP0002429_abnormal_blood_cell1.09921827
75MP0005257_abnormal_intraocular_pressure1.09757463
76MP0000689_abnormal_spleen_morphology1.09481968
77MP0003075_altered_response_to1.09393110
78MP0002254_reproductive_system_inflammat1.08305788
79MP0000490_abnormal_crypts_of1.07993622
80MP0010307_abnormal_tumor_latency1.07538384
81MP0003806_abnormal_nucleotide_metabolis1.07375498
82MP0003172_abnormal_lysosome_physiology1.07292100
83MP0004272_abnormal_basement_membrane1.06120279
84MP0005165_increased_susceptibility_to1.05443025
85MP0002722_abnormal_immune_system1.03795267
86MP0003795_abnormal_bone_structure1.02514797
87MP0008260_abnormal_autophagy1.01267186
88MP0004883_abnormal_blood_vessel0.98715914
89MP0002332_abnormal_exercise_endurance0.98399348
90MP0001243_abnormal_dermal_layer0.98381094
91MP0001851_eye_inflammation0.98119954
92MP0005164_abnormal_response_to0.97532454
93MP0000767_abnormal_smooth_muscle0.97123982
94MP0004782_abnormal_surfactant_physiolog0.94698236
95MP0003763_abnormal_thymus_physiology0.93945032
96MP0001216_abnormal_epidermal_layer0.93445875
97MP0001542_abnormal_bone_strength0.92959944
98MP0001849_ear_inflammation0.92666169
99MP0005174_abnormal_tail_pigmentation0.92338506
100MP0001873_stomach_inflammation0.92280037
101MP0002138_abnormal_hepatobiliary_system0.92070197
102MP0003191_abnormal_cellular_cholesterol0.89308056
103MP0005166_decreased_susceptibility_to0.88355418
104MP0000733_abnormal_muscle_development0.86615578
105MP0003656_abnormal_erythrocyte_physiolo0.84027788
106MP0001348_abnormal_lacrimal_gland0.82060689
107MP0000249_abnormal_blood_vessel0.81013808
108MP0002282_abnormal_trachea_morphology0.76970626
109MP0002896_abnormal_bone_mineralization0.76758083
110MP0005623_abnormal_meninges_morphology0.75687444
111MP0001191_abnormal_skin_condition0.75301660
112MP0005310_abnormal_salivary_gland0.73769084
113MP0003045_fibrosis0.72136874
114MP0009763_increased_sensitivity_to0.71185152
115MP0005503_abnormal_tendon_morphology0.70299368
116MP0000604_amyloidosis0.67514930
117MP0003183_abnormal_peptide_metabolism0.67508686
118MP0001879_abnormal_lymphatic_vessel0.65888792
119MP0002277_abnormal_respiratory_mucosa0.65836584
120MP0002113_abnormal_skeleton_development0.65077411

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)5.53886213
2Eczematoid dermatitis (HP:0000976)5.24536315
3Recurrent bacterial skin infections (HP:0005406)4.92417179
4Myositis (HP:0100614)3.87860639
5Recurrent gram-negative bacterial infections (HP:0005420)3.82027352
6Orchitis (HP:0100796)3.62229658
7Abnormality of macrophages (HP:0004311)3.59685363
8Elevated erythrocyte sedimentation rate (HP:0003565)3.51844703
9Osteolytic defects of the phalanges of the hand (HP:0009771)3.48764722
10Osteolytic defects of the hand bones (HP:0009699)3.48764722
11Mediastinal lymphadenopathy (HP:0100721)3.46170177
12Follicular hyperkeratosis (HP:0007502)3.37385799
13Retrobulbar optic neuritis (HP:0100654)3.26563262
14Optic neuritis (HP:0100653)3.26563262
15Vertebral compression fractures (HP:0002953)3.19739114
16Interstitial pulmonary disease (HP:0006530)3.02635456
17Premature rupture of membranes (HP:0001788)3.02198883
18Gingivitis (HP:0000230)3.01632256
19Thick nail (HP:0001805)2.98067436
20Recurrent fungal infections (HP:0002841)2.96938616
21Recurrent skin infections (HP:0001581)2.95434978
22Periodontitis (HP:0000704)2.94243565
23Syringomyelia (HP:0003396)2.90683451
24Spinal cord lesions (HP:0100561)2.90683451
25Absent frontal sinuses (HP:0002688)2.86134596
26Peritonitis (HP:0002586)2.85419970
27Increased cerebral lipofuscin (HP:0011813)2.81006056
28Obstructive lung disease (HP:0006536)2.80785349
29Chronic obstructive pulmonary disease (HP:0006510)2.80785349
30Cellulitis (HP:0100658)2.79870106
31Autoimmune thrombocytopenia (HP:0001973)2.77334633
32Stomatitis (HP:0010280)2.76561994
33Pustule (HP:0200039)2.76461526
34Vascular tortuosity (HP:0004948)2.76396466
35Increased neuronal autofluorescent lipopigment (HP:0002074)2.70190059
36Vacuolated lymphocytes (HP:0001922)2.70124501
37Myocardial infarction (HP:0001658)2.65611269
38Arterial tortuosity (HP:0005116)2.63257258
39T lymphocytopenia (HP:0005403)2.54276456
40Recurrent viral infections (HP:0004429)2.50427466
41Vasculitis (HP:0002633)2.50029418
42Protrusio acetabuli (HP:0003179)2.47536189
43Abnormality of T cell number (HP:0011839)2.45066982
44Cervical subluxation (HP:0003308)2.42813101
45Atrophic scars (HP:0001075)2.40455043
46Ankle contracture (HP:0006466)2.40056376
47Loss of speech (HP:0002371)2.37816586
48Abnormality of polysaccharide metabolism (HP:0011012)2.37623863
49Abnormality of glycosaminoglycan metabolism (HP:0004371)2.37623863
50Abnormality of mucopolysaccharide metabolism (HP:0011020)2.37623863
51Alopecia of scalp (HP:0002293)2.37605848
52Mucopolysacchariduria (HP:0008155)2.35849766
53Urinary glycosaminoglycan excretion (HP:0003541)2.35849766
54Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.35666349
55Pulmonary infiltrates (HP:0002113)2.33682208
56Prostate neoplasm (HP:0100787)2.27964978
57Arterial thrombosis (HP:0004420)2.26654493
58Osteomyelitis (HP:0002754)2.26614054
59Axonal loss (HP:0003447)2.18849583
60Urticaria (HP:0001025)2.18187525
61Hematochezia (HP:0002573)2.16997130
62Increased density of long bones (HP:0006392)2.16040376
63Albinism (HP:0001022)2.14849403
64Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.12984968
65Abnormality of the frontal sinuses (HP:0002687)2.12561324
66Neurofibrillary tangles (HP:0002185)2.09028999
67Disinhibition (HP:0000734)2.09011499
68Spondylolisthesis (HP:0003302)2.07251359
69Short nail (HP:0001799)2.06850170
70Autoimmune hemolytic anemia (HP:0001890)2.05805095
71Leukocytosis (HP:0001974)2.05469307
72Basal ganglia calcification (HP:0002135)2.05407661
73Nuclear cataract (HP:0100018)2.00244751
74Thrombocytosis (HP:0001894)1.99706370
75Meningitis (HP:0001287)1.99592395
76Abnormality of the pericardium (HP:0001697)1.98345958
77Fragile skin (HP:0001030)1.98344280
78Chronic otitis media (HP:0000389)1.97844155
79Recurrent cutaneous fungal infections (HP:0011370)1.96375633
80Chronic mucocutaneous candidiasis (HP:0002728)1.96375633
81Recurrent pneumonia (HP:0006532)1.94453324
82Dilatation of the ascending aorta (HP:0005111)1.94280666
83Cheilitis (HP:0100825)1.93760693
84Keratoconjunctivitis sicca (HP:0001097)1.93705509
85Skin ulcer (HP:0200042)1.92780483
86Abnormality of the distal phalanges of the toes (HP:0010182)1.90577249
87Aortic dissection (HP:0002647)1.88496661
88Ocular albinism (HP:0001107)1.87729146
89Premature loss of primary teeth (HP:0006323)1.87319378
90Amyloidosis (HP:0011034)1.86783173
91Fatigue (HP:0012378)1.86329179
92Epiphyseal dysplasia (HP:0002656)1.84876165
93Abnormal delayed hypersensitivity skin test (HP:0002963)1.84798027
94Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.83733822
95Systemic lupus erythematosus (HP:0002725)1.83561968
96Elbow flexion contracture (HP:0002987)1.83321782
97Hypergammaglobulinemia (HP:0010702)1.83255128
98Wormian bones (HP:0002645)1.82374355
99Chronic diarrhea (HP:0002028)1.81162477
100Gingival bleeding (HP:0000225)1.80532475
101Gangrene (HP:0100758)1.79848021
102Milia (HP:0001056)1.79788894
103Reduced subcutaneous adipose tissue (HP:0003758)1.79603846
104Aortic aneurysm (HP:0004942)1.78670792
105Cerebral inclusion bodies (HP:0100314)1.78647731
106Aneurysm (HP:0002617)1.78150510
107Hemoptysis (HP:0002105)1.77053689
108Recurrent lower respiratory tract infections (HP:0002783)1.76893488
109Genu recurvatum (HP:0002816)1.76506724
110Onycholysis (HP:0001806)1.76440613
111Subacute progressive viral hepatitis (HP:0006572)1.76326095
112Blue sclerae (HP:0000592)1.74357049
113Glomerulopathy (HP:0100820)1.74258643
114Spinal rigidity (HP:0003306)1.74199141
115Dysostosis multiplex (HP:0000943)1.74007261
116Keratoconjunctivitis (HP:0001096)1.72566155
117Persistence of primary teeth (HP:0006335)1.72452614
118Abnormality of the lumbar spine (HP:0100712)1.71781509
119Cupped ribs (HP:0000887)1.71711655
120Petechiae (HP:0000967)1.71456393
121Arthralgia (HP:0002829)1.71064760
122Nail dystrophy (HP:0008404)1.70504072
123Natal tooth (HP:0000695)1.70327007
124Anhidrosis (HP:0000970)1.70297582
125Beaking of vertebral bodies (HP:0004568)1.70026008
126Cerebral aneurysm (HP:0004944)1.69920956
127Spontaneous hematomas (HP:0007420)1.69710306
128Bone pain (HP:0002653)1.69589540
129Increased IgE level (HP:0003212)1.69558894
130Coxa vara (HP:0002812)1.68745944
131Glucose intolerance (HP:0000833)1.68278181
132Eosinophilia (HP:0001880)1.65379613
133Abnormal platelet volume (HP:0011876)1.64899734
134Abnormality of glycolipid metabolism (HP:0010969)1.63494279
135Abnormality of liposaccharide metabolism (HP:0010968)1.63494279
136Abnormality of glycosphingolipid metabolism (HP:0004343)1.63494279
137Increased IgM level (HP:0003496)1.62779879
138Distal lower limb amyotrophy (HP:0008944)1.61829493

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K143.71272430
2TBK12.89951431
3PIM22.78283697
4RIPK42.54660994
5GRK72.53753876
6IRAK42.42366941
7JAK32.39454705
8MAP4K12.33277819
9ERN12.20486747
10TYK22.19174133
11IKBKB2.15288082
12IRAK32.08394761
13BLK2.07352061
14NME21.98749740
15PRPF4B1.97417702
16IKBKE1.88353755
17RPS6KA41.87484273
18KIT1.85562260
19STK101.85437968
20TRPM71.85358712
21BMPR21.76479364
22PDGFRA1.75028031
23TXK1.73381179
24MAP3K31.72366715
25NEK91.62816789
26TTN1.61909381
27MYLK1.59130354
28JAK11.57468179
29MST41.56286137
30CHUK1.55793288
31LRRK21.55746519
32LMTK21.52580888
33CSK1.52022301
34MST1R1.49378741
35TEC1.39929035
36BMX1.38790679
37ZAP701.36402216
38EPHB11.35481136
39MAP2K31.33436647
40PIM11.33281027
41CDC42BPA1.29990549
42EPHA21.29550798
43TGFBR21.27417361
44PBK1.27214420
45SIK11.24980568
46TRIB31.21576491
47HCK1.19497253
48BTK1.19256163
49TAOK31.16124193
50EPHA31.08608671
51ERBB31.03483030
52TESK11.02916398
53CDK61.01928877
54MAP3K131.00396523
55MOS0.98956462
56FGFR30.94756544
57MATK0.94719744
58LCK0.94392037
59SYK0.94133414
60ITK0.93997507
61MAP3K120.90530737
62STK30.90523257
63FLT30.88553353
64EIF2AK30.88523793
65CSF1R0.88402813
66RIPK10.85855693
67LYN0.85123915
68ABL20.83989542
69DDR20.82808349
70MAP3K110.82434374
71PTK60.82271302
72MARK30.82127125
73PAK40.80063546
74TAOK10.79191622
75LIMK10.76194597
76PRKD20.75960409
77MELK0.75853741
78FGFR40.72787980
79PKN20.71772840
80NUAK10.71330741
81ERBB40.68441905
82MAP3K50.68307686
83JAK20.68299216
84MAPKAPK20.68034792
85STK380.67748360
86ABL10.67550607
87CLK10.67295179
88GSK3A0.64725175
89MAP2K60.63946507
90EGFR0.63851704
91TSSK60.63469080
92PRKG20.60838747
93STK240.60750863
94STK40.59083012
95LATS20.58155045
96PIK3CG0.57448357
97EIF2AK20.56930467
98PRKCD0.56807641
99DMPK0.55970449
100FER0.54178722
101IRAK10.53760792
102MAP3K80.52036513
103CDK120.51807567
104ARAF0.50684921
105PTK2B0.50447785
106FGR0.50162907
107PDGFRB0.49857875
108PTK20.48632814
109ROCK20.47338176
110TAOK20.47048523
111KSR10.45672023
112RPS6KA60.45484589
113MAPK70.44817294
114ICK0.43610629
115FES0.43500723
116MAP3K100.43468131
117HIPK20.43197534
118AKT30.43110725
119TGFBR10.41897485
120MET0.39036119
121SCYL20.38658099
122PAK20.37968629
123DYRK1B0.36831125
124MAP3K10.33097049
125YES10.32057382
126INSR0.31612452
127EIF2AK10.31413224
128RPS6KL10.30781746
129RPS6KC10.30781746
130SIK30.30688262

Predicted pathways (KEGG)

RankGene SetZ-score
1Leishmaniasis_Homo sapiens_hsa051403.06191042
2Malaria_Homo sapiens_hsa051442.48810901
3NF-kappa B signaling pathway_Homo sapiens_hsa040642.34670091
4Graft-versus-host disease_Homo sapiens_hsa053322.31960145
5Legionellosis_Homo sapiens_hsa051342.31253691
6Toll-like receptor signaling pathway_Homo sapiens_hsa046202.30899275
7Osteoclast differentiation_Homo sapiens_hsa043802.23191049
8Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.14910704
9NOD-like receptor signaling pathway_Homo sapiens_hsa046212.04119395
10Allograft rejection_Homo sapiens_hsa053302.03310621
11TNF signaling pathway_Homo sapiens_hsa046681.98783842
12Pertussis_Homo sapiens_hsa051331.95481333
13Tuberculosis_Homo sapiens_hsa051521.92129406
14Measles_Homo sapiens_hsa051621.91083446
15Toxoplasmosis_Homo sapiens_hsa051451.79795154
16Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.75721508
17Rheumatoid arthritis_Homo sapiens_hsa053231.75139454
18Intestinal immune network for IgA production_Homo sapiens_hsa046721.70595828
19Staphylococcus aureus infection_Homo sapiens_hsa051501.67916829
20RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.65992882
21Salmonella infection_Homo sapiens_hsa051321.65815004
22Asthma_Homo sapiens_hsa053101.59908081
23* Hematopoietic cell lineage_Homo sapiens_hsa046401.57882554
24Apoptosis_Homo sapiens_hsa042101.57054401
25Phagosome_Homo sapiens_hsa041451.56006659
26* Shigellosis_Homo sapiens_hsa051311.53341447
27Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.52475860
28Viral myocarditis_Homo sapiens_hsa054161.49448391
29Influenza A_Homo sapiens_hsa051641.49294518
30B cell receptor signaling pathway_Homo sapiens_hsa046621.48521121
31Antigen processing and presentation_Homo sapiens_hsa046121.46498154
32Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.45459552
33Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.44697317
34Jak-STAT signaling pathway_Homo sapiens_hsa046301.39577367
35AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.39008536
36Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.38651780
37Lysosome_Homo sapiens_hsa041421.38494246
38Leukocyte transendothelial migration_Homo sapiens_hsa046701.35092613
39Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.35060349
40Herpes simplex infection_Homo sapiens_hsa051681.34205998
41Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.33845879
42Hepatitis B_Homo sapiens_hsa051611.31377035
43Amoebiasis_Homo sapiens_hsa051461.23295268
44Chronic myeloid leukemia_Homo sapiens_hsa052201.22161938
45Small cell lung cancer_Homo sapiens_hsa052221.21279904
46Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.18678132
47Chemokine signaling pathway_Homo sapiens_hsa040621.15084115
48Type I diabetes mellitus_Homo sapiens_hsa049401.10230014
49Other glycan degradation_Homo sapiens_hsa005111.05793778
50* ECM-receptor interaction_Homo sapiens_hsa045121.05723791
51Autoimmune thyroid disease_Homo sapiens_hsa053201.01932080
52p53 signaling pathway_Homo sapiens_hsa041151.01834570
53* Proteoglycans in cancer_Homo sapiens_hsa052051.01089806
54Acute myeloid leukemia_Homo sapiens_hsa052211.00958606
55Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.98895858
56Pancreatic cancer_Homo sapiens_hsa052120.95853689
57Primary immunodeficiency_Homo sapiens_hsa053400.95470945
58Platelet activation_Homo sapiens_hsa046110.94797855
59Glycosaminoglycan degradation_Homo sapiens_hsa005310.94625719
60T cell receptor signaling pathway_Homo sapiens_hsa046600.94234420
61Hepatitis C_Homo sapiens_hsa051600.92969093
62African trypanosomiasis_Homo sapiens_hsa051430.92812203
63Focal adhesion_Homo sapiens_hsa045100.91611194
64* MicroRNAs in cancer_Homo sapiens_hsa052060.79844961
65Prion diseases_Homo sapiens_hsa050200.79697304
66Transcriptional misregulation in cancer_Homo sapiens_hsa052020.79692103
67Viral carcinogenesis_Homo sapiens_hsa052030.77692344
68Adherens junction_Homo sapiens_hsa045200.76935413
69Neurotrophin signaling pathway_Homo sapiens_hsa047220.76186838
70Regulation of actin cytoskeleton_Homo sapiens_hsa048100.74126978
71Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.73500844
72* Epstein-Barr virus infection_Homo sapiens_hsa051690.71366245
73HTLV-I infection_Homo sapiens_hsa051660.70623680
74Bladder cancer_Homo sapiens_hsa052190.68971783
75Dorso-ventral axis formation_Homo sapiens_hsa043200.64183555
76Prolactin signaling pathway_Homo sapiens_hsa049170.63449932
77Vibrio cholerae infection_Homo sapiens_hsa051100.62738321
78Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.62003067
79HIF-1 signaling pathway_Homo sapiens_hsa040660.60289364
80TGF-beta signaling pathway_Homo sapiens_hsa043500.58416251
81Sulfur metabolism_Homo sapiens_hsa009200.54404985
82Complement and coagulation cascades_Homo sapiens_hsa046100.53410199
83Sphingolipid signaling pathway_Homo sapiens_hsa040710.51921739
84PI3K-Akt signaling pathway_Homo sapiens_hsa041510.49241168
85Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.48277638
86VEGF signaling pathway_Homo sapiens_hsa043700.47825339
87Sphingolipid metabolism_Homo sapiens_hsa006000.45722128
88Prostate cancer_Homo sapiens_hsa052150.45578158
89Melanoma_Homo sapiens_hsa052180.43296662
90Pathways in cancer_Homo sapiens_hsa052000.42820823
91Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.42703971
92Endocytosis_Homo sapiens_hsa041440.41704741
93SNARE interactions in vesicular transport_Homo sapiens_hsa041300.41651401
94Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.41213333
95Phospholipase D signaling pathway_Homo sapiens_hsa040720.40232840
96Renin-angiotensin system_Homo sapiens_hsa046140.37102686
97Adipocytokine signaling pathway_Homo sapiens_hsa049200.36912510
98FoxO signaling pathway_Homo sapiens_hsa040680.35758572
99Colorectal cancer_Homo sapiens_hsa052100.34770403
100Non-small cell lung cancer_Homo sapiens_hsa052230.32343628
101Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.32338493
102Renal cell carcinoma_Homo sapiens_hsa052110.32238129
103Thyroid cancer_Homo sapiens_hsa052160.31027097
104Glioma_Homo sapiens_hsa052140.30976204
105Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.30154270
106Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.28235280
107Rap1 signaling pathway_Homo sapiens_hsa040150.27562719
108Notch signaling pathway_Homo sapiens_hsa043300.26720108

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