PDLIM2

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





Description: This gene encodes a member of the ALP subfamily of PDZ-LIM domain proteins. The encoded protein suppresses anchorage-dependent growth and promotes cell migration and adhesion through interactions with the actin cytoskeleton via the PDZ domain. The encoded protein is also a putative tumor suppressor protein, and decreased expression of this gene is associated with several malignancies including breast cancer and adult T-cell leukemia. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1fatty acid elongation (GO:0030497)8.76884209
2ensheathment of neurons (GO:0007272)7.40078156
3axon ensheathment (GO:0008366)7.40078156
4myelination (GO:0042552)7.35434117
5long-chain fatty acid biosynthetic process (GO:0042759)6.60475560
6myelin maintenance (GO:0043217)5.57670315
7negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.44365900
8negative regulation of cell killing (GO:0031342)5.44365900
9cholesterol biosynthetic process (GO:0006695)5.36503638
10antigen processing and presentation of endogenous antigen (GO:0019883)5.32927870
11antigen processing and presentation of endogenous peptide antigen (GO:0002483)5.25523166
12antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.16999266
13negative regulation of neurotransmitter secretion (GO:0046929)4.97727769
14creatine metabolic process (GO:0006600)4.95104092
15oligodendrocyte differentiation (GO:0048709)4.80980390
16sterol biosynthetic process (GO:0016126)4.73332261
17antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.70950536
18amyloid precursor protein metabolic process (GO:0042982)4.67779096
19negative regulation of protein localization to cell surface (GO:2000009)4.64912890
20negative regulation of neurotransmitter transport (GO:0051589)4.51900848
21virion attachment to host cell (GO:0019062)4.47971014
22adhesion of symbiont to host cell (GO:0044650)4.47971014
23regulation of collateral sprouting (GO:0048670)4.45535420
24establishment of mitochondrion localization (GO:0051654)4.45234592
25long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)4.36267393
26positive regulation of oligodendrocyte differentiation (GO:0048714)4.35038164
27astrocyte development (GO:0014002)4.32201140
28modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.30771059
29positive regulation by organism of defense response of other organism involved in symbiotic interact4.30771059
30modulation by symbiont of host immune response (GO:0052553)4.30771059
31positive regulation by symbiont of host defense response (GO:0052509)4.30771059
32modulation by symbiont of host defense response (GO:0052031)4.30771059
33modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.30771059
34apical protein localization (GO:0045176)4.22703953
35positive regulation of gamma-delta T cell activation (GO:0046645)4.18566345
36glycerophospholipid catabolic process (GO:0046475)4.18532470
37isoprenoid biosynthetic process (GO:0008299)4.17818859
38response to redox state (GO:0051775)4.11357484
39long-chain fatty-acyl-CoA metabolic process (GO:0035336)4.07959061
40asymmetric protein localization (GO:0008105)4.05835621
41membrane tubulation (GO:0097320)4.04516087
42response to methylmercury (GO:0051597)4.03275596
43eye photoreceptor cell differentiation (GO:0001754)3.97802653
44photoreceptor cell differentiation (GO:0046530)3.97802653
45substantia nigra development (GO:0021762)3.88107076
46GPI anchor biosynthetic process (GO:0006506)3.78999248
47response to lipoprotein particle (GO:0055094)3.75043325
48regulation of lipoprotein metabolic process (GO:0050746)3.74400659
49leukocyte aggregation (GO:0070486)3.73623891
50fatty-acyl-CoA biosynthetic process (GO:0046949)3.73522281
51detection of bacterium (GO:0016045)3.72078830
52positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.71288050
53detection of other organism (GO:0098543)3.70662352
54regulation of B cell receptor signaling pathway (GO:0050855)3.68606823
55peptidyl-tyrosine autophosphorylation (GO:0038083)3.66654394
56negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.65294415
57fatty-acyl-CoA metabolic process (GO:0035337)3.61840213
58amyloid precursor protein catabolic process (GO:0042987)3.60539625
59GPI anchor metabolic process (GO:0006505)3.56421351
60protein palmitoylation (GO:0018345)3.54710431
61presynaptic membrane organization (GO:0097090)3.49848556
62import into cell (GO:0098657)3.47571763
63regulation of interferon-beta biosynthetic process (GO:0045357)3.47075374
64myelination in peripheral nervous system (GO:0022011)3.41336621
65peripheral nervous system axon ensheathment (GO:0032292)3.41336621
66macrophage activation involved in immune response (GO:0002281)3.40335273
67glycosylceramide metabolic process (GO:0006677)3.39273883
68negative thymic T cell selection (GO:0045060)3.33154996
69negative T cell selection (GO:0043383)3.33111106
70axon development (GO:0061564)3.32584043
71L-amino acid import (GO:0043092)3.30830552
72regulation of dendritic cell antigen processing and presentation (GO:0002604)3.30615544
73adhesion of symbiont to host (GO:0044406)3.30500253
74protein neddylation (GO:0045116)3.29376987
75negative regulation of lymphocyte mediated immunity (GO:0002707)3.28438321
76nucleotide transmembrane transport (GO:1901679)3.28330471
77negative regulation of JUN kinase activity (GO:0043508)3.28201630
78very long-chain fatty acid metabolic process (GO:0000038)3.25811239
79membrane raft organization (GO:0031579)3.22606113
80negative regulation of phagocytosis (GO:0050765)3.21297361
81preassembly of GPI anchor in ER membrane (GO:0016254)3.18624965
82negative regulation of peptidyl-threonine phosphorylation (GO:0010801)3.15106201
83limb bud formation (GO:0060174)3.15016438
84leukocyte migration involved in inflammatory response (GO:0002523)3.13839614
85regulation of gamma-delta T cell activation (GO:0046643)3.13622427
86neutrophil activation involved in immune response (GO:0002283)3.12202977
87presynaptic membrane assembly (GO:0097105)3.08299730
88positive regulation of pseudopodium assembly (GO:0031274)3.07470362
89negative regulation of interleukin-1 production (GO:0032692)3.06422790
90regulation of gamma-delta T cell differentiation (GO:0045586)3.06088594
91magnesium ion transport (GO:0015693)3.05749990
92positive regulation of glial cell differentiation (GO:0045687)3.04096394
93detection of external biotic stimulus (GO:0098581)3.02714697
94negative regulation of acute inflammatory response (GO:0002674)3.02449290
95negative regulation of execution phase of apoptosis (GO:1900118)3.01049623
96positive thymic T cell selection (GO:0045059)3.00989861
97response to interleukin-15 (GO:0070672)2.99696894
98regulation of T cell mediated cytotoxicity (GO:0001914)2.98908343
99positive regulation of T cell mediated cytotoxicity (GO:0001916)2.97738486
100tooth mineralization (GO:0034505)2.97626742
101negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.96878007
102negative regulation of T-helper cell differentiation (GO:0045623)2.96878007
103cellular response to interleukin-15 (GO:0071350)2.96097560
104glial cell development (GO:0021782)2.95989634
105negative regulation of axonogenesis (GO:0050771)2.95377454
106regulation of antigen processing and presentation (GO:0002577)2.93602084
107negative regulation of leukocyte mediated immunity (GO:0002704)2.93489781
108negative regulation of innate immune response (GO:0045824)2.92905200
109neuron remodeling (GO:0016322)2.92895430
110negative regulation of interleukin-6 production (GO:0032715)2.92163596
111interleukin-6-mediated signaling pathway (GO:0070102)2.91655596
112negative regulation of interleukin-12 production (GO:0032695)2.90492225
113peptidyl-cysteine modification (GO:0018198)2.90438063
114response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.90342548
115response to host immune response (GO:0052572)2.90342548
116thioester biosynthetic process (GO:0035384)2.88928203
117acyl-CoA biosynthetic process (GO:0071616)2.88928203
118cellular extravasation (GO:0045123)2.87948982
119immunoglobulin mediated immune response (GO:0016064)2.86600896
120antigen processing and presentation via MHC class Ib (GO:0002475)2.85267430
121positive regulation of gliogenesis (GO:0014015)2.84764594
122regulation of mast cell degranulation (GO:0043304)2.84747740
123negative regulation of T cell mediated immunity (GO:0002710)2.83857480
124response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.83677872
125response to host (GO:0075136)2.83677872
126response to host defenses (GO:0052200)2.83677872
127protein localization to endosome (GO:0036010)2.83535298
128regulation of T cell tolerance induction (GO:0002664)2.81840780
129cerebral cortex radially oriented cell migration (GO:0021799)2.79445310
130enteric nervous system development (GO:0048484)2.79415332
131positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.77714529
132tolerance induction (GO:0002507)2.74996611
133negative regulation of chemokine production (GO:0032682)2.74793881
134positive regulation of cellular amine metabolic process (GO:0033240)2.72487341
135NIK/NF-kappaB signaling (GO:0038061)2.70008000
136heme transport (GO:0015886)2.69906418
137membrane protein ectodomain proteolysis (GO:0006509)2.69694813
138positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.69479685
139regulation of mast cell activation involved in immune response (GO:0033006)2.68772376
140regulation of pseudopodium assembly (GO:0031272)2.68310430
141negative regulation of alpha-beta T cell activation (GO:0046636)2.68230616
142negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)2.67203456
143positive regulation of action potential (GO:0045760)2.66710585
144regulation of interleukin-8 secretion (GO:2000482)2.66249150
145peripheral nervous system development (GO:0007422)2.66161027
146positive regulation of interleukin-8 secretion (GO:2000484)2.65464096
147organ growth (GO:0035265)2.65409285
148lymph node development (GO:0048535)2.64180964
149adult walking behavior (GO:0007628)2.64014903
150myeloid cell activation involved in immune response (GO:0002275)2.63976525
151detection of biotic stimulus (GO:0009595)2.62435746
152negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.61982658
153positive regulation of antigen processing and presentation (GO:0002579)2.61939886
154blood vessel maturation (GO:0001955)2.61259567
155cell migration involved in heart development (GO:0060973)2.59468871
156regulation of mast cell activation (GO:0033003)2.59072296
157iron coordination entity transport (GO:1901678)2.58914707
158regulation of natural killer cell mediated immunity (GO:0002715)2.58810271
159regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.58810271
160response to lead ion (GO:0010288)2.56842520
161mannosylation (GO:0097502)2.56051416
162tissue regeneration (GO:0042246)2.55802453
163ceramide biosynthetic process (GO:0046513)2.55083636
164mitochondrial electron transport, NADH to ubiquinone (GO:0006120)2.55015747
165cellular response to follicle-stimulating hormone stimulus (GO:0071372)2.54390590
166neural nucleus development (GO:0048857)2.54176860
167ear development (GO:0043583)2.53575971
168regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.53565148
169phosphatidylserine acyl-chain remodeling (GO:0036150)2.52468741
170response to peptidoglycan (GO:0032494)2.52366659
171neutrophil activation (GO:0042119)2.51836946
172mature B cell differentiation involved in immune response (GO:0002313)2.51685328
173detection of temperature stimulus involved in sensory perception of pain (GO:0050965)2.51552300
174B cell receptor signaling pathway (GO:0050853)2.48950480
175protein heterotrimerization (GO:0070208)2.48690719
176negative regulation of leukocyte chemotaxis (GO:0002689)2.48337796
177positive T cell selection (GO:0043368)2.47409536
178regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.46812572
179activated T cell proliferation (GO:0050798)2.46495997
180venous blood vessel morphogenesis (GO:0048845)2.45696156
181T cell selection (GO:0045058)2.43566357
182regulation of B cell differentiation (GO:0045577)2.43061567
183respiratory burst (GO:0045730)2.41691789
184regulation of tolerance induction (GO:0002643)2.41373899
185detection of molecule of bacterial origin (GO:0032490)2.40656839
186negative regulation of protein autophosphorylation (GO:0031953)2.40483274
187type B pancreatic cell proliferation (GO:0044342)2.39130634
188thymic T cell selection (GO:0045061)2.38526523
189positive regulation of natural killer cell differentiation (GO:0032825)2.38484589
190leukocyte degranulation (GO:0043299)2.38055335
191response to type I interferon (GO:0034340)2.36867991
192negative regulation of tumor necrosis factor production (GO:0032720)2.36073491
193regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.35565149
194negative regulation of type 2 immune response (GO:0002829)2.34779939
195cellular response to type I interferon (GO:0071357)2.33946077
196type I interferon signaling pathway (GO:0060337)2.33946077
197microglial cell activation (GO:0001774)2.32905166
198axon ensheathment in central nervous system (GO:0032291)12.4217213
199central nervous system myelination (GO:0022010)12.4217213

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1SOX9_22984422_ChIP-ChIP_TESTIS_Rat4.39964109
2* IRF8_22096565_ChIP-ChIP_GC-B_Human4.34304293
3STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.19343843
4BP1_19119308_ChIP-ChIP_Hs578T_Human2.80568304
5SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.75228324
6* IRF8_21731497_ChIP-ChIP_J774_Mouse2.61066960
7GBX2_23144817_ChIP-Seq_PC3_Human2.60432089
8* RARG_19884340_ChIP-ChIP_MEFs_Mouse2.51138558
9VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.31586552
10* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.30177786
11VDR_21846776_ChIP-Seq_THP-1_Human2.27716091
12* MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.21564152
13IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.21237760
14RUNX_20019798_ChIP-Seq_JUKART_Human2.18649838
15PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse2.16197317
16E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.13862740
17VDR_24763502_ChIP-Seq_THP-1_Human2.08671195
18OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.07927003
19ELK3_25401928_ChIP-Seq_HUVEC_Human2.02897948
20* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.00127678
21TAF15_26573619_Chip-Seq_HEK293_Human1.99548566
22KDM2B_26808549_Chip-Seq_SUP-B15_Human1.98026618
23* LXR_22292898_ChIP-Seq_THP-1_Human1.97623065
24E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.91227581
25* LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.90162800
26FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.85702129
27* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.84828268
28* SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.80560588
29MAF_26560356_Chip-Seq_TH1_Human1.76987096
30TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.75504889
31JARID2_20064375_ChIP-Seq_MESCs_Mouse1.75254046
32SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.74737512
33THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.74568757
34ER_23166858_ChIP-Seq_MCF-7_Human1.74459941
35CDX2_19796622_ChIP-Seq_MESCs_Mouse1.74210407
36* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.73414729
37CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.72159207
38EZH2_27304074_Chip-Seq_ESCs_Mouse1.69925432
39BCL6_27268052_Chip-Seq_Bcells_Human1.69892117
40* UTX_26944678_Chip-Seq_JUKART_Human1.69836149
41SMAD_19615063_ChIP-ChIP_OVARY_Human1.68769618
42SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.68236881
43IRF8_27001747_Chip-Seq_BMDM_Mouse1.67876814
44ZFP57_27257070_Chip-Seq_ESCs_Mouse1.63230622
45MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.62082790
46TRIM28_21343339_ChIP-Seq_HEK293_Human1.61332773
47* MAF_26560356_Chip-Seq_TH2_Human1.60651867
48WT1_19549856_ChIP-ChIP_CCG9911_Human1.60350152
49VDR_22108803_ChIP-Seq_LS180_Human1.59732223
50* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.59464484
51KDM2B_26808549_Chip-Seq_DND41_Human1.59263849
52EED_16625203_ChIP-ChIP_MESCs_Mouse1.59006021
53* SUZ12_27294783_Chip-Seq_ESCs_Mouse1.55985364
54GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.54345789
55RUNX1_22412390_ChIP-Seq_EML_Mouse1.53820435
56STAT6_21828071_ChIP-Seq_BEAS2B_Human1.50862075
57STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.50178338
58SPI1_23127762_ChIP-Seq_K562_Human1.49844833
59* EZH2_27294783_Chip-Seq_ESCs_Mouse1.49580286
60* EZH2_18974828_ChIP-Seq_MESCs_Mouse1.48968651
61* RNF2_18974828_ChIP-Seq_MESCs_Mouse1.48968651
62SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.47603995
63SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.47350350
64* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.46003506
65NRF2_20460467_ChIP-Seq_MEFs_Mouse1.44972636
66NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.44972636
67SA1_27219007_Chip-Seq_ERYTHROID_Human1.42041112
68* TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.41233981
69BCOR_27268052_Chip-Seq_Bcells_Human1.40029415
70AR_21572438_ChIP-Seq_LNCaP_Human1.39766681
71* SPI1_23547873_ChIP-Seq_NB4_Human1.39756847
72* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.39539454
73RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.39335228
74IKZF1_21737484_ChIP-ChIP_HCT116_Human1.39305247
75PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.38501799
76KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.38030181
77TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.36749930
78MYB_26560356_Chip-Seq_TH2_Human1.35615806
79RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.35342174
80* SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.34388117
81EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.34378602
82* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.33826149
83CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.31641218
84SMAD3_21741376_ChIP-Seq_EPCs_Human1.28740904
85* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.27831672
86ELF1_20517297_ChIP-Seq_JURKAT_Human1.27314209
87CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.26927793
88EOMES_21245162_ChIP-Seq_HESCs_Human1.26904169
89CBX2_27304074_Chip-Seq_ESCs_Mouse1.26832656
90TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.26447939
91CTCF_27219007_Chip-Seq_ERYTHROID_Human1.26388073
92SCL_19346495_ChIP-Seq_HPC-7_Human1.26265241
93NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.25987390
94VDR_24787735_ChIP-Seq_THP-1_Human1.25229108
95POU3F2_20337985_ChIP-ChIP_501MEL_Human1.24811638
96* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.23862607
97SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.22832015
98STAT4_19710469_ChIP-ChIP_TH1__Mouse1.22611107
99* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.22208711
100P68_20966046_ChIP-Seq_HELA_Human1.21136822
101PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.21032918
102* IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.20110631
103FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.19120503
104LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.18646898
105CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.18643624
106PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.18311033
107* SMC3_22415368_ChIP-Seq_MEFs_Mouse1.18235290
108SMC1_22415368_ChIP-Seq_MEFs_Mouse1.18028631
109* RNF2_27304074_Chip-Seq_ESCs_Mouse1.17973135
110TCF7_22412390_ChIP-Seq_EML_Mouse1.17736592
111CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.17473727
112PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.17094251
113MYB_21317192_ChIP-Seq_ERMYB_Mouse1.15687246
114GATA3_27048872_Chip-Seq_THYMUS_Human1.15652957
115RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.15430238
116TP53_22127205_ChIP-Seq_IMR90_Human1.14946226
117PIAS1_25552417_ChIP-Seq_VCAP_Human1.14744030
118SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.14674895
119NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.13705891
120SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.13588062
121GATA1_19941827_ChIP-Seq_MEL_Mouse1.13156018
122MYB_26560356_Chip-Seq_TH1_Human1.11623200
123EP300_21415370_ChIP-Seq_HL-1_Mouse1.10891743
124DROSHA_22980978_ChIP-Seq_HELA_Human1.10794754
125E2F1_20622854_ChIP-Seq_HELA_Human1.10645980
126KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.10639786
127BMI1_23680149_ChIP-Seq_NPCS_Mouse1.10220765
128TAL1_26923725_Chip-Seq_HPCs_Mouse1.08828650
129* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.08816893
130SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.08814537
131CTBP1_25329375_ChIP-Seq_LNCAP_Human1.08265579
132FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.07325252
133RACK7_27058665_Chip-Seq_MCF-7_Human1.06848223
134GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06836106
135TET1_21451524_ChIP-Seq_MESCs_Mouse1.06748190
136STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.06554244
137SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.06246611
138SA1_27219007_Chip-Seq_Bcells_Human1.06133054
139GATA1_26923725_Chip-Seq_HPCs_Mouse1.05936408
140CTCF_26484167_Chip-Seq_Bcells_Mouse1.05502518
141KDM2B_26808549_Chip-Seq_JURKAT_Human1.05106223
142GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.03013933
143PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.02908880
144VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.02550127
145FUS_26573619_Chip-Seq_HEK293_Human1.02276768
146PPARA_22158963_ChIP-Seq_LIVER_Mouse1.02219125
147PU.1_20513432_ChIP-Seq_Bcells_Mouse1.01858580
148CMYC_18555785_Chip-Seq_ESCs_Mouse1.01402518
149PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.00975403
150TP63_22573176_ChIP-Seq_HFKS_Human0.99750469
151CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.99615225
152CTCF_27219007_Chip-Seq_Bcells_Human0.99462213
153CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.98815235
154RAD21_21589869_ChIP-Seq_MESCs_Mouse0.98756258
155MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.98574654
156CTCF_21964334_ChIP-Seq_BJAB-B_Human0.98438153
157RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.97410136
158HTT_18923047_ChIP-ChIP_STHdh_Human0.97342670
159EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.97270354
160FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.96539984
161P300_19829295_ChIP-Seq_ESCs_Human0.96014792
162GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.95910555
163PRDM14_20953172_ChIP-Seq_ESCs_Human0.94603307
164SUZ12_18555785_Chip-Seq_ESCs_Mouse0.93628487
165SOX2_19829295_ChIP-Seq_ESCs_Human0.93135146
166NANOG_19829295_ChIP-Seq_ESCs_Human0.93135146
167SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.92212964
168P300_18555785_Chip-Seq_ESCs_Mouse0.90267393
169RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.89391988
170NANOG_18555785_Chip-Seq_ESCs_Mouse0.88437558
171ESR2_21235772_ChIP-Seq_MCF-7_Human0.87577008
172ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.87481684
173CTCF_20526341_ChIP-Seq_ESCs_Human0.87254968
174STAT1_20625510_ChIP-Seq_HELA_Human0.87244351
175EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.87076269
176SOX2_20726797_ChIP-Seq_SW620_Human0.84908120
177FOXO3_23340844_ChIP-Seq_DLD1_Human0.84535367
178FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.84316657
179P53_22127205_ChIP-Seq_FIBROBLAST_Human0.84276082
180TP53_18474530_ChIP-ChIP_U2OS_Human0.83619228
181LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.82836570
182GATA6_21074721_ChIP-Seq_CACO-2_Mouse0.82363719
183EZH2_22144423_ChIP-Seq_EOC_Human0.81779583
184* WT1_25993318_ChIP-Seq_PODOCYTE_Human0.80801570
185ARNT_22903824_ChIP-Seq_MCF-7_Human0.78558755
186MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.78547567
187EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.78142727
188GATA2_21666600_ChIP-Seq_HMVEC_Human0.77972258
189TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.77949505
190ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.77545251
191AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.76952467
192KDM2B_26808549_Chip-Seq_REH_Human0.76720733

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000920_abnormal_myelination6.45201614
2MP0003950_abnormal_plasma_membrane4.17704533
3MP0003724_increased_susceptibility_to3.86148921
4MP0003436_decreased_susceptibility_to3.34882642
5MP0003690_abnormal_glial_cell3.11188818
6MP0005503_abnormal_tendon_morphology3.00904277
7MP0003279_aneurysm3.00489009
8MP0003880_abnormal_central_pattern2.93584958
9MP0004270_analgesia2.82198647
10MP0003329_amyloid_beta_deposits2.71894756
11MP0001529_abnormal_vocalization2.68381569
12MP0005275_abnormal_skin_tensile2.68146292
13MP0005171_absent_coat_pigmentation2.65930389
14MP0005451_abnormal_body_composition2.62334301
15MP0001905_abnormal_dopamine_level2.60322851
16MP0003136_yellow_coat_color2.55066951
17MP0001835_abnormal_antigen_presentation2.53189193
18MP0004742_abnormal_vestibular_system2.49525741
19MP0003634_abnormal_glial_cell2.46883287
20MP0003806_abnormal_nucleotide_metabolis2.45088344
21MP0000685_abnormal_immune_system2.42505381
22MP0004885_abnormal_endolymph2.40034615
23MP0005409_darkened_coat_color2.31267893
24MP0001533_abnormal_skeleton_physiology2.28134886
25MP0004142_abnormal_muscle_tone2.25365100
26MP0001542_abnormal_bone_strength2.18103993
27MP0002419_abnormal_innate_immunity2.18093283
28MP0010678_abnormal_skin_adnexa2.14701536
29MP0005387_immune_system_phenotype2.12489072
30MP0001790_abnormal_immune_system2.12489072
31MP0004381_abnormal_hair_follicle2.11911661
32MP0000383_abnormal_hair_follicle2.08058006
33MP0003705_abnormal_hypodermis_morpholog2.07525441
34MP0008438_abnormal_cutaneous_collagen2.06548599
35MP0005671_abnormal_response_to2.06163353
36MP0002272_abnormal_nervous_system2.04400407
37MP0003191_abnormal_cellular_cholesterol2.03870198
38* MP0005025_abnormal_response_to2.00162632
39MP0001800_abnormal_humoral_immune1.98408714
40MP0005000_abnormal_immune_tolerance1.96767763
41MP0005410_abnormal_fertilization1.96335196
42MP0001485_abnormal_pinna_reflex1.86683462
43MP0001486_abnormal_startle_reflex1.84384012
44MP0003763_abnormal_thymus_physiology1.83244171
45MP0003632_abnormal_nervous_system1.83025432
46* MP0002723_abnormal_immune_serum1.82299752
47MP0002229_neurodegeneration1.76997215
48* MP0002420_abnormal_adaptive_immunity1.76879085
49* MP0001819_abnormal_immune_cell1.75734555
50MP0002452_abnormal_antigen_presenting1.73720714
51MP0009785_altered_susceptibility_to1.73669173
52MP0002148_abnormal_hypersensitivity_rea1.71333390
53MP0005390_skeleton_phenotype1.70219567
54MP0000778_abnormal_nervous_system1.69201823
55MP0000462_abnormal_digestive_system1.68130058
56MP0006054_spinal_hemorrhage1.62275072
57MP0004147_increased_porphyrin_level1.61616066
58MP0004134_abnormal_chest_morphology1.60803917
59MP0005058_abnormal_lysosome_morphology1.59322735
60MP0004043_abnormal_pH_regulation1.58850124
61MP0006082_CNS_inflammation1.56513415
62MP0002064_seizures1.52065187
63MP0000604_amyloidosis1.50981893
64MP0002405_respiratory_system_inflammati1.50792385
65MP0002138_abnormal_hepatobiliary_system1.50052597
66MP0005360_urolithiasis1.49550048
67MP0004858_abnormal_nervous_system1.41525010
68MP0001851_eye_inflammation1.40595356
69MP0009333_abnormal_splenocyte_physiolog1.40506164
70MP0003828_pulmonary_edema1.38148343
71MP0002254_reproductive_system_inflammat1.36777779
72MP0008260_abnormal_autophagy1.35282754
73MP0002132_abnormal_respiratory_system1.34010231
74MP0002295_abnormal_pulmonary_circulatio1.33852635
75MP0001346_abnormal_lacrimal_gland1.33115882
76MP0003300_gastrointestinal_ulcer1.32387043
77MP0004883_abnormal_blood_vessel1.30174858
78MP0001661_extended_life_span1.30092128
79MP0002998_abnormal_bone_remodeling1.27703876
80MP0003631_nervous_system_phenotype1.27094235
81MP0000747_muscle_weakness1.24472638
82MP0005023_abnormal_wound_healing1.23403408
83MP0000767_abnormal_smooth_muscle1.22511576
84MP0009764_decreased_sensitivity_to1.21879896
85MP0005623_abnormal_meninges_morphology1.21459255
86MP0000716_abnormal_immune_system1.20755426
87MP0001845_abnormal_inflammatory_respons1.20288054
88MP0005464_abnormal_platelet_physiology1.20221491
89MP0003183_abnormal_peptide_metabolism1.18775462
90MP0000762_abnormal_tongue_morphology1.18699911
91MP0005408_hypopigmentation1.17099010
92MP0005164_abnormal_response_to1.16467805
93MP0002734_abnormal_mechanical_nocicepti1.16237104
94MP0000647_abnormal_sebaceous_gland1.14905324
95MP0010155_abnormal_intestine_physiology1.14286701
96MP0005423_abnormal_somatic_nervous1.14219978
97MP0004947_skin_inflammation1.13534027
98MP0000955_abnormal_spinal_cord1.13214473
99MP0005551_abnormal_eye_electrophysiolog1.10412737
100MP0003866_abnormal_defecation1.09609862
101MP0002108_abnormal_muscle_morphology1.08465974
102MP0001986_abnormal_taste_sensitivity1.08400375
103MP0001299_abnormal_eye_distance/1.08354490
104MP0008469_abnormal_protein_level1.07260072
105MP0003172_abnormal_lysosome_physiology1.07101881
106MP0002933_joint_inflammation1.06834716
107MP0000579_abnormal_nail_morphology1.06430698
108MP0009278_abnormal_bone_marrow1.05994126
109MP0002398_abnormal_bone_marrow1.04412442
110MP0001963_abnormal_hearing_physiology1.03787306
111MP0002882_abnormal_neuron_morphology1.03626273
112MP0001958_emphysema1.03240866
113MP0003303_peritoneal_inflammation1.02508147
114MP0005508_abnormal_skeleton_morphology1.02311084
115MP0000566_synostosis1.02304185
116MP0000689_abnormal_spleen_morphology1.02043638
117MP0004510_myositis1.00003791
118MP0004130_abnormal_muscle_cell0.99333217
119MP0003633_abnormal_nervous_system0.98812748
120MP0002752_abnormal_somatic_nervous0.98507595
121MP0004185_abnormal_adipocyte_glucose0.97332042
122MP0009046_muscle_twitch0.96956024
123MP0000750_abnormal_muscle_regeneration0.96825211
124MP0005195_abnormal_posterior_eye0.96217958
125MP0002066_abnormal_motor_capabilities/c0.95999870
126MP0005595_abnormal_vascular_smooth0.95126084
127MP0001348_abnormal_lacrimal_gland0.95123472
128MP0003938_abnormal_ear_development0.94891452
129MP0001243_abnormal_dermal_layer0.93514816
130MP0001970_abnormal_pain_threshold0.92834652
131MP0003195_calcinosis0.92824783
132MP0009745_abnormal_behavioral_response0.92456141
133MP0002722_abnormal_immune_system0.92430057
134MP0003937_abnormal_limbs/digits/tail_de0.91584942
135MP0008569_lethality_at_weaning0.90556462
136MP0003646_muscle_fatigue0.89353310
137MP0003252_abnormal_bile_duct0.86849654
138MP0001440_abnormal_grooming_behavior0.85405537
139MP0002429_abnormal_blood_cell0.85271357
140MP0010368_abnormal_lymphatic_system0.84438867
141MP0000858_altered_metastatic_potential0.83736476
142MP0005388_respiratory_system_phenotype0.83542068
143MP0002133_abnormal_respiratory_system0.83542068
144MP0000372_irregular_coat_pigmentation0.82921986
145MP0000013_abnormal_adipose_tissue0.82338786
146MP0003795_abnormal_bone_structure0.81827925
147MP0003448_altered_tumor_morphology0.79649483
148MP0003045_fibrosis0.78663696
149MP0003091_abnormal_cell_migration0.78206448
150MP0000249_abnormal_blood_vessel0.78077737
151MP0000230_abnormal_systemic_arterial0.77973470
152MP0004859_abnormal_synaptic_plasticity0.77956167
153MP0000703_abnormal_thymus_morphology0.77526100
154MP0000467_abnormal_esophagus_morphology0.76476623
155MP0003656_abnormal_erythrocyte_physiolo0.76439687
156MP0000465_gastrointestinal_hemorrhage0.75167980
157MP0003566_abnormal_cell_adhesion0.74062743
158MP0002938_white_spotting0.73983767
159MP0001177_atelectasis0.73931101
160MP0004272_abnormal_basement_membrane0.73817590
161MP0003635_abnormal_synaptic_transmissio0.73659765
162MP0002796_impaired_skin_barrier0.72890292
163MP0005083_abnormal_biliary_tract0.72798258
164MP0009384_cardiac_valve_regurgitation0.72068503
165MP0003075_altered_response_to0.70662168
166MP0009250_abnormal_appendicular_skeleto0.70347610
167MP0001663_abnormal_digestive_system0.69184320
168MP0002572_abnormal_emotion/affect_behav0.68347538
169MP0000749_muscle_degeneration0.68343401
170MP0002060_abnormal_skin_morphology0.67929591
171MP0001340_abnormal_eyelid_morphology0.66949465
172MP0005386_behavior/neurological_phenoty0.66751108
173MP0004924_abnormal_behavior0.66751108
174MP0004145_abnormal_muscle_electrophysio0.65809895
175MP0000026_abnormal_inner_ear0.65562877
176MP0004036_abnormal_muscle_relaxation0.64903773
177MP0001873_stomach_inflammation0.64742594
178MP0005377_hearing/vestibular/ear_phenot0.64157774
179MP0009840_abnormal_foam_cell0.63223619
180MP0002067_abnormal_sensory_capabilities0.62350242
181MP0001727_abnormal_embryo_implantation0.59749133
182MP0003453_abnormal_keratinocyte_physiol0.57550817
183MP0002733_abnormal_thermal_nociception0.56571980
184MP0010771_integument_phenotype0.56001473

Predicted human phenotypes

RankGene SetZ-score
1Degeneration of the lateral corticospinal tracts (HP:0002314)6.37891132
2Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)6.37891132
3Neurofibrillary tangles (HP:0002185)6.36865339
4Parakeratosis (HP:0001036)5.70147819
5Sensory axonal neuropathy (HP:0003390)5.00796585
6Eczematoid dermatitis (HP:0000976)4.88757227
7Elevated erythrocyte sedimentation rate (HP:0003565)4.73908185
8Congenital nonbullous ichthyosiform erythroderma (HP:0007479)4.70198483
9Abnormality of the corticospinal tract (HP:0002492)4.49147574
10Cerebral inclusion bodies (HP:0100314)4.42932111
11Myositis (HP:0100614)4.38521116
12Peripheral hypomyelination (HP:0007182)4.32093369
13Protrusio acetabuli (HP:0003179)4.26659492
14Peritonitis (HP:0002586)4.24786089
15Stomatitis (HP:0010280)4.02375866
16Cerebral hypomyelination (HP:0006808)3.89286532
17Onion bulb formation (HP:0003383)3.82664393
18Abnormality of glycolysis (HP:0004366)3.69811646
19Increased serum pyruvate (HP:0003542)3.69811646
20Type 1 muscle fiber predominance (HP:0003803)3.68944677
21Recurrent abscess formation (HP:0002722)3.59701737
22Congenital ichthyosiform erythroderma (HP:0007431)3.58979705
23Supranuclear gaze palsy (HP:0000605)3.58032345
24Aortic aneurysm (HP:0004942)3.57874514
25Orchitis (HP:0100796)3.49710582
26Recurrent bacterial skin infections (HP:0005406)3.47250349
27Abnormality of macrophages (HP:0004311)3.43442179
28Abnormal auditory evoked potentials (HP:0006958)3.41494317
29Aortic dissection (HP:0002647)3.27814636
30Spastic gait (HP:0002064)3.17749731
31Stridor (HP:0010307)3.16936078
32Recurrent fungal infections (HP:0002841)3.10933024
33Abnormal delayed hypersensitivity skin test (HP:0002963)3.10643602
34Pustule (HP:0200039)3.09558894
35Leukodystrophy (HP:0002415)3.07084667
36Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.05790100
37Spontaneous hematomas (HP:0007420)3.04031252
38Alacrima (HP:0000522)2.98004269
39Gastrointestinal infarctions (HP:0005244)2.97138501
40Hypoplastic pelvis (HP:0008839)2.96660426
41Increased IgE level (HP:0003212)2.94750926
42Slender build (HP:0001533)2.91504450
43Intention tremor (HP:0002080)2.87178975
44Spastic paraparesis (HP:0002313)2.85344165
45Termporal pattern (HP:0011008)2.82953914
46Insidious onset (HP:0003587)2.82953914
47Autoamputation (HP:0001218)2.82766982
48Premature skin wrinkling (HP:0100678)2.80353188
49Broad metatarsal (HP:0001783)2.79399795
50Optic neuritis (HP:0100653)2.77804018
51Retrobulbar optic neuritis (HP:0100654)2.77804018
52Segmental peripheral demyelination/remyelination (HP:0003481)2.76770540
53Recurrent gram-negative bacterial infections (HP:0005420)2.75045149
54Recurrent cutaneous fungal infections (HP:0011370)2.74448584
55Chronic mucocutaneous candidiasis (HP:0002728)2.74448584
56Slow saccadic eye movements (HP:0000514)2.74394100
57Recurrent skin infections (HP:0001581)2.73950962
58Retinal dysplasia (HP:0007973)2.73019926
59Dysmetria (HP:0001310)2.71839671
60Dilatation of the ascending aorta (HP:0005111)2.71053854
61Soft skin (HP:0000977)2.70616953
62Akinesia (HP:0002304)2.65973920
63Increased variability in muscle fiber diameter (HP:0003557)2.65356479
64Thickened helices (HP:0000391)2.64025564
65Spondylolisthesis (HP:0003302)2.63353447
66Infantile muscular hypotonia (HP:0008947)2.63052990
67Cerebral hemorrhage (HP:0001342)2.61914097
68Vascular tortuosity (HP:0004948)2.61235045
69Episodic fever (HP:0001954)2.59498497
70Renal Fanconi syndrome (HP:0001994)2.59479805
71Joint stiffness (HP:0001387)2.59378214
72Hepatosplenomegaly (HP:0001433)2.58858021
73Mediastinal lymphadenopathy (HP:0100721)2.57157490
74Genu recurvatum (HP:0002816)2.52790064
75Round ear (HP:0100830)2.49335748
76Muscle fiber splitting (HP:0003555)2.48873796
77Absent septum pellucidum (HP:0001331)2.47311956
78Abnormality of skeletal muscle fiber size (HP:0012084)2.47088051
79Emphysema (HP:0002097)2.47073467
80Scanning speech (HP:0002168)2.45855609
81Ankle contracture (HP:0006466)2.43347051
82Methylmalonic acidemia (HP:0002912)2.40367906
83CNS hypomyelination (HP:0003429)2.39732933
84Follicular hyperkeratosis (HP:0007502)2.36385397
85Patchy hypopigmentation of hair (HP:0011365)2.35784900
86Gingivitis (HP:0000230)2.35679655
87Meningitis (HP:0001287)2.34966890
88Anteriorly placed anus (HP:0001545)2.34793151
89Cellulitis (HP:0100658)2.33759255
90Abnormality of the phalanges of the 2nd finger (HP:0009541)2.33131799
91Hypoplasia of the iris (HP:0007676)2.30660795
92Coronal craniosynostosis (HP:0004440)2.30497533
93Hematochezia (HP:0002573)2.29809218
94Obstructive lung disease (HP:0006536)2.28367557
95Chronic obstructive pulmonary disease (HP:0006510)2.28367557
96Clumsiness (HP:0002312)2.27507504
97Foot dorsiflexor weakness (HP:0009027)2.26698255
98Bladder diverticulum (HP:0000015)2.26329391
99White forelock (HP:0002211)2.25595939
100Axonal loss (HP:0003447)2.24766295
101Decreased lacrimation (HP:0000633)2.23612092
102Aortic regurgitation (HP:0001659)2.21307335
103Blue sclerae (HP:0000592)2.19512136
104Encephalitis (HP:0002383)2.18414370
105Increased neuronal autofluorescent lipopigment (HP:0002074)2.18388896
106Panhypogammaglobulinemia (HP:0003139)2.18354291
107Ankle clonus (HP:0011448)2.16987322
108Fragile skin (HP:0001030)2.16334314
109Hemoptysis (HP:0002105)2.15481362
110Absent rod-and cone-mediated responses on ERG (HP:0007688)2.14638267
111Prolonged bleeding time (HP:0003010)2.14531682
112Erythroderma (HP:0001019)2.13733922
113Cervical subluxation (HP:0003308)2.13701554
114Partial duplication of thumb phalanx (HP:0009944)2.12883072
115Hypochromic anemia (HP:0001931)2.12765656
116Morphological abnormality of the inner ear (HP:0011390)2.12360347
117Pulmonary infiltrates (HP:0002113)2.11786282
118Increased circulating renin level (HP:0000848)2.09613276
119Vasculitis (HP:0002633)2.09010395
120Ulnar deviation of the wrist (HP:0003049)2.08873235
121Hypophosphatemic rickets (HP:0004912)2.07794685
122Urticaria (HP:0001025)2.07462770
123Abnormality of the septum pellucidum (HP:0007375)2.07250140
124Hypochromic microcytic anemia (HP:0004840)2.06217422
125Hyporeflexia of lower limbs (HP:0002600)2.04735212
126Abnormality of mucopolysaccharide metabolism (HP:0011020)2.03856823
127Abnormality of polysaccharide metabolism (HP:0011012)2.03856823
128Abnormality of glycosaminoglycan metabolism (HP:0004371)2.03856823
129Hyperlipoproteinemia (HP:0010980)2.03820265
130Vertebral compression fractures (HP:0002953)2.03444588
131Split foot (HP:0001839)2.03422730
1323-Methylglutaconic aciduria (HP:0003535)2.02537865
133Severe visual impairment (HP:0001141)2.01784174
134Chest pain (HP:0100749)2.00875439
135Abnormality of the foot musculature (HP:0001436)2.00545741
136Abnormality of the peritoneum (HP:0002585)2.00102690
137Arterial tortuosity (HP:0005116)1.99963873
138Leukocytosis (HP:0001974)1.99729756
139Keratoconjunctivitis (HP:0001096)1.99534751
140Adrenal hypoplasia (HP:0000835)1.99228271
141Aplasia involving bones of the upper limbs (HP:0009823)1.98800519
142Aplasia of the phalanges of the hand (HP:0009802)1.98800519
143Aplasia involving bones of the extremities (HP:0009825)1.98800519
144Paraparesis (HP:0002385)1.98580790
145Humeroradial synostosis (HP:0003041)1.98230211
146Synostosis involving the elbow (HP:0003938)1.98230211
147Petechiae (HP:0000967)1.97703585
148Increased cerebral lipofuscin (HP:0011813)1.96830421
149Keratoconjunctivitis sicca (HP:0001097)1.96480015
150Aortic valve stenosis (HP:0001650)1.96014383
151Metabolic alkalosis (HP:0200114)1.96004615
152Abnormality of the middle phalanges of the toes (HP:0010183)1.95876028
153Hypomagnesemia (HP:0002917)1.95542072
154Ovoid vertebral bodies (HP:0003300)1.95521621
155Nemaline bodies (HP:0003798)1.94930590
156Abnormality of the fetal cardiovascular system (HP:0010948)1.93808807
157Abnormal umbilical cord blood vessels (HP:0011403)1.93808807
158Single umbilical artery (HP:0001195)1.93808807
159Gowers sign (HP:0003391)1.93786023
160Myokymia (HP:0002411)1.93694248
161Abnormality of the pericardium (HP:0001697)1.92699715
162Hypokalemic alkalosis (HP:0001949)1.92686011
163Pheochromocytoma (HP:0002666)1.91868067
164Prolonged neonatal jaundice (HP:0006579)1.91712318
165Decreased motor nerve conduction velocity (HP:0003431)1.91334305
166Cupped ear (HP:0000378)1.91250085
167Spastic tetraparesis (HP:0001285)1.91029572
168Recurrent lower respiratory tract infections (HP:0002783)1.90572749
169Partial agenesis of the corpus callosum (HP:0001338)1.88684673
170Keratoconus (HP:0000563)1.88411678
171Increased corneal curvature (HP:0100692)1.88411678
172Megalencephaly (HP:0001355)1.88219220
173Dysostosis multiplex (HP:0000943)1.88213016
174Mucopolysacchariduria (HP:0008155)1.87165934
175Urinary glycosaminoglycan excretion (HP:0003541)1.87165934
176Gingival bleeding (HP:0000225)1.86543689
177Partial duplication of the phalanx of hand (HP:0009999)1.84136667
178Acute necrotizing encephalopathy (HP:0006965)1.83631936
179Hypergammaglobulinemia (HP:0010702)1.83435321
180Ileus (HP:0002595)1.83043995
181Loss of speech (HP:0002371)1.81846709
182Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.81139274
183Biconcave vertebral bodies (HP:0004586)1.78803741
184Muscle fiber inclusion bodies (HP:0100299)1.78450858
185Poor speech (HP:0002465)1.78341637
186Epistaxis (HP:0000421)1.77904282
187Premature rupture of membranes (HP:0001788)1.76349675
188Neuroendocrine neoplasm (HP:0100634)1.75810435
189Esophageal atresia (HP:0002032)1.75390158
190Stenosis of the external auditory canal (HP:0000402)1.74899829
191Increased hepatocellular lipid droplets (HP:0006565)1.74701520
192Abolished electroretinogram (ERG) (HP:0000550)1.74427103
193Lymphopenia (HP:0001888)1.74181903
194Bruising susceptibility (HP:0000978)1.73762959
195Malnutrition (HP:0004395)1.73289126
196Barrel-shaped chest (HP:0001552)1.73185881
197Asymmetric septal hypertrophy (HP:0001670)1.71861091
198Progressive neurologic deterioration (HP:0002344)1.70108096

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK396.41392270
2OXSR14.58385972
3EPHB13.80058337
4ERN13.57139503
5MAP4K13.09516787
6PBK2.97534259
7BCR2.87798956
8CDK192.76401657
9GRK62.72152832
10PKN12.62083321
11MAP2K32.59524247
12MET2.58645684
13WNK42.54615866
14MAPKAPK52.46560122
15LIMK12.37619965
16TESK22.37217855
17TYK22.23534070
18MAP3K112.18836938
19IRAK42.15654315
20ZAP702.14393526
21MST42.11728342
22CSNK1G32.03176243
23FGFR21.98931188
24CSNK1A1L1.98306215
25KIT1.97525794
26WNK11.93368682
27TNK21.90279845
28FES1.86495541
29TGFBR21.74290738
30PIK3CG1.71365876
31CSNK1G11.61300995
32UHMK11.60927038
33MYLK1.58075453
34TXK1.57590283
35CLK11.56685784
36CAMK2B1.55300604
37ROCK21.55080726
38NEK61.54727710
39FGR1.53192378
40MAP3K31.48961222
41PRPF4B1.44320462
42RIPK41.42678874
43CSNK1G21.41940133
44JAK31.39227491
45BTK1.38857970
46ICK1.37139658
47FRK1.37053984
48KDR1.36902179
49TBK11.32822118
50IKBKE1.31146157
51HCK1.29019495
52CAMK2D1.27000118
53SYK1.25168158
54NTRK11.25023821
55TRPM71.21841473
56PNCK1.18886649
57TNIK1.18623378
58TTN1.18245763
59ADRBK11.17823154
60MAP3K71.10015831
61TAOK31.09092070
62ARAF1.08895517
63CDC42BPA1.00263756
64IKBKB0.99992139
65DYRK20.99841209
66CAMK2G0.99441953
67TESK10.95814736
68DYRK1B0.95737588
69JAK10.94345819
70PRKCQ0.94026844
71MAPK120.94011901
72STK380.93510821
73BCKDK0.92020193
74PAK60.91430967
75SGK2230.91283871
76SGK4940.91283871
77TAOK10.90588291
78LYN0.89377513
79TRIB30.87994411
80RPS6KA60.87405369
81PRKG20.85314758
82MUSK0.83771956
83PRKD10.83670741
84MARK20.82917067
85CDK140.82752625
86RPS6KL10.81794272
87RPS6KC10.81794272
88ABL20.79978889
89MAP3K10.78610899
90RPS6KA50.76902380
91TEC0.76731852
92PTK60.75983586
93SIK10.75458690
94MAPK150.74142541
95BMPR1B0.73294039
96CDK150.72019527
97MAPK110.71638424
98TYRO30.70244190
99CAMK2A0.69095015
100RPS6KA20.67654861
101MAP3K130.66723397
102CDK11A0.66610992
103MARK30.65844989
104CDK180.65643082
105CASK0.65523832
106ITK0.65023788
107PAK30.62809879
108TAOK20.62648825
109LRRK20.62151117
110PDPK10.61354714
111CDK50.59948478
112PRKCE0.59888143
113GRK50.59550760
114DAPK20.59113233
115PIM20.58686722
116FYN0.57595372
117NEK90.57085150
118MAPKAPK30.56073683
119MAP2K20.54891923
120ERBB40.53633525
121EPHA30.52977066
122IRAK10.52732809
123PAK10.52244566
124MOS0.51481970
125PIK3CA0.51065153
126FLT30.50445027
127MAP2K60.50439257
128GRK70.48962298
129MAP2K10.48474147
130PRKG10.48138447
131PRKCH0.48068293
132CSNK1D0.47767588
133BLK0.46862646
134MAPKAPK20.45732902
135MAP3K60.44554803
136JAK20.43296867
137CAMKK20.41606623
138CSNK1A10.40930412
139DDR20.40649722
140GSK3A0.40509828
141LCK0.40180171
142PHKG20.40024157
143PHKG10.40024157
144PRKACB0.37839647
145MARK10.35992049
146CSF1R0.34336311
147PDGFRB0.34192383
148STK100.33662928
149INSR0.33625775
150CSK0.32176529
151DAPK30.31957665
152ADRBK20.31883133
153KSR20.30540922
154EPHA40.29937514
155MAPK70.29302127
156GRK10.29081143
157STK110.28577024
158BMX0.28008031
159MKNK10.27881177
160ABL10.25691289
161PTK2B0.24315134
162HIPK20.24093715
163PAK20.23863212
164OBSCN0.22670603
165PRKD20.22600719
166PDK10.22567270
167BMPR20.22087018
168TIE10.21783854

Predicted pathways (KEGG)

RankGene SetZ-score
1Terpenoid backbone biosynthesis_Homo sapiens_hsa009005.80085485
2Fatty acid elongation_Homo sapiens_hsa000624.86346516
3Steroid biosynthesis_Homo sapiens_hsa001004.84495515
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.40862974
5Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005633.21383930
6Ether lipid metabolism_Homo sapiens_hsa005653.20521890
7Primary immunodeficiency_Homo sapiens_hsa053403.09894639
8Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.98970424
9Protein export_Homo sapiens_hsa030602.62342852
10Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.48539358
11Osteoclast differentiation_Homo sapiens_hsa043802.46740845
12Staphylococcus aureus infection_Homo sapiens_hsa051502.40486741
13Oxidative phosphorylation_Homo sapiens_hsa001902.35359341
14Sphingolipid metabolism_Homo sapiens_hsa006002.12221826
15Sulfur metabolism_Homo sapiens_hsa009202.10430528
16Leishmaniasis_Homo sapiens_hsa051402.04203537
17Histidine metabolism_Homo sapiens_hsa003401.93676268
18Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.88559226
19Linoleic acid metabolism_Homo sapiens_hsa005911.84832465
20Glycosaminoglycan degradation_Homo sapiens_hsa005311.73240990
21Intestinal immune network for IgA production_Homo sapiens_hsa046721.70043507
22Vitamin B6 metabolism_Homo sapiens_hsa007501.69655198
23Hematopoietic cell lineage_Homo sapiens_hsa046401.67942418
24Parkinsons disease_Homo sapiens_hsa050121.67839535
25alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.67063403
26Axon guidance_Homo sapiens_hsa043601.57776609
27Alzheimers disease_Homo sapiens_hsa050101.55938928
28Other glycan degradation_Homo sapiens_hsa005111.55806009
29Tuberculosis_Homo sapiens_hsa051521.53281410
30Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.51690436
31B cell receptor signaling pathway_Homo sapiens_hsa046621.47600056
32Viral myocarditis_Homo sapiens_hsa054161.38086858
33NF-kappa B signaling pathway_Homo sapiens_hsa040641.32855312
34SNARE interactions in vesicular transport_Homo sapiens_hsa041301.29541757
35Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.28981721
36Platelet activation_Homo sapiens_hsa046111.27478682
37Type I diabetes mellitus_Homo sapiens_hsa049401.25982385
38Sulfur relay system_Homo sapiens_hsa041221.24367562
39Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.24357416
40Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.18334580
41Antigen processing and presentation_Homo sapiens_hsa046121.16526605
42Butanoate metabolism_Homo sapiens_hsa006501.15874545
43Pertussis_Homo sapiens_hsa051331.15091550
44Arginine and proline metabolism_Homo sapiens_hsa003301.14124392
45Arachidonic acid metabolism_Homo sapiens_hsa005901.12712672
46Toxoplasmosis_Homo sapiens_hsa051451.12408969
47Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.11066656
48TNF signaling pathway_Homo sapiens_hsa046681.09068855
49Jak-STAT signaling pathway_Homo sapiens_hsa046301.07806316
50RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.07550864
51Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.07163522
52Acute myeloid leukemia_Homo sapiens_hsa052211.06088212
53Glutathione metabolism_Homo sapiens_hsa004801.05906306
54Renal cell carcinoma_Homo sapiens_hsa052111.05065465
55Toll-like receptor signaling pathway_Homo sapiens_hsa046201.03772097
56Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.02319743
57Protein digestion and absorption_Homo sapiens_hsa049740.99585899
58Sphingolipid signaling pathway_Homo sapiens_hsa040710.98235192
59Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.96610789
60Tight junction_Homo sapiens_hsa045300.95804321
61Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.94635090
62NOD-like receptor signaling pathway_Homo sapiens_hsa046210.94342755
63Serotonergic synapse_Homo sapiens_hsa047260.94060197
64Measles_Homo sapiens_hsa051620.93986349
65Autoimmune thyroid disease_Homo sapiens_hsa053200.93667597
66Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.93533353
67Rheumatoid arthritis_Homo sapiens_hsa053230.93271420
68Focal adhesion_Homo sapiens_hsa045100.88763405
69Vibrio cholerae infection_Homo sapiens_hsa051100.88489066
70Malaria_Homo sapiens_hsa051440.87680409
71Amoebiasis_Homo sapiens_hsa051460.85409000
72Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.85151720
73African trypanosomiasis_Homo sapiens_hsa051430.82779553
74Huntingtons disease_Homo sapiens_hsa050160.81994382
75Lysosome_Homo sapiens_hsa041420.81816444
76Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.78800846
77Herpes simplex infection_Homo sapiens_hsa051680.73439570
78Endocytosis_Homo sapiens_hsa041440.73334788
79Collecting duct acid secretion_Homo sapiens_hsa049660.73131256
80Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.72496198
81Mineral absorption_Homo sapiens_hsa049780.70937848
82Glycerolipid metabolism_Homo sapiens_hsa005610.70433000
83Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.69565364
84Cyanoamino acid metabolism_Homo sapiens_hsa004600.68481881
85AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.68443357
86Insulin resistance_Homo sapiens_hsa049310.68345871
87Phagosome_Homo sapiens_hsa041450.67578319
88MAPK signaling pathway_Homo sapiens_hsa040100.67349171
89Long-term depression_Homo sapiens_hsa047300.67346687
90Ras signaling pathway_Homo sapiens_hsa040140.66919701
91ECM-receptor interaction_Homo sapiens_hsa045120.66853441
92Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.66767205
93Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.64537182
94Glutamatergic synapse_Homo sapiens_hsa047240.64198836
95Fatty acid metabolism_Homo sapiens_hsa012120.64190812
96Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.63921665
97Folate biosynthesis_Homo sapiens_hsa007900.63660427
98Galactose metabolism_Homo sapiens_hsa000520.62873095
99GABAergic synapse_Homo sapiens_hsa047270.61507269
100Steroid hormone biosynthesis_Homo sapiens_hsa001400.61396124
101Rap1 signaling pathway_Homo sapiens_hsa040150.61352853
102Influenza A_Homo sapiens_hsa051640.60782047
103Adipocytokine signaling pathway_Homo sapiens_hsa049200.59897211
104Cardiac muscle contraction_Homo sapiens_hsa042600.58589279
105Glycerophospholipid metabolism_Homo sapiens_hsa005640.57367736
106Ovarian steroidogenesis_Homo sapiens_hsa049130.55947324
107Chemical carcinogenesis_Homo sapiens_hsa052040.54478229
108Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.53955853
109Calcium signaling pathway_Homo sapiens_hsa040200.53775386
110Propanoate metabolism_Homo sapiens_hsa006400.53284300
111Complement and coagulation cascades_Homo sapiens_hsa046100.53115870
112Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.52573729
113Vascular smooth muscle contraction_Homo sapiens_hsa042700.52276554
114Renin-angiotensin system_Homo sapiens_hsa046140.52071740
115Regulation of actin cytoskeleton_Homo sapiens_hsa048100.51918742
116Hepatitis C_Homo sapiens_hsa051600.51852780
117Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.50821854
118Notch signaling pathway_Homo sapiens_hsa043300.50479991
119Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.50261967
120Phospholipase D signaling pathway_Homo sapiens_hsa040720.49189882
121VEGF signaling pathway_Homo sapiens_hsa043700.48578303
122Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.47845368
123Metabolic pathways_Homo sapiens_hsa011000.46072182
124Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.45991029
125Leukocyte transendothelial migration_Homo sapiens_hsa046700.45110341
126HTLV-I infection_Homo sapiens_hsa051660.44928286
127Peroxisome_Homo sapiens_hsa041460.44578305
128Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.43402047
129Morphine addiction_Homo sapiens_hsa050320.43222514
130Apoptosis_Homo sapiens_hsa042100.41763990
131Hepatitis B_Homo sapiens_hsa051610.40826706
132Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.40452151
133Renin secretion_Homo sapiens_hsa049240.40410652
134Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.40170869
135FoxO signaling pathway_Homo sapiens_hsa040680.39790435
136Cocaine addiction_Homo sapiens_hsa050300.38924592
137Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.38040775
138Hedgehog signaling pathway_Homo sapiens_hsa043400.37918968
139Phototransduction_Homo sapiens_hsa047440.37754369
140Salmonella infection_Homo sapiens_hsa051320.35553153
141Vitamin digestion and absorption_Homo sapiens_hsa049770.33149295
142Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.32583645
143Graft-versus-host disease_Homo sapiens_hsa053320.31027552
144Dorso-ventral axis formation_Homo sapiens_hsa043200.30631855
145Retinol metabolism_Homo sapiens_hsa008300.29894726
146PI3K-Akt signaling pathway_Homo sapiens_hsa041510.29851573
147RNA polymerase_Homo sapiens_hsa030200.29723533
148ErbB signaling pathway_Homo sapiens_hsa040120.28866025
149Regulation of autophagy_Homo sapiens_hsa041400.27906725
150Chemokine signaling pathway_Homo sapiens_hsa040620.27695192
151Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.27408477
152Asthma_Homo sapiens_hsa053100.26140012
153Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.25797815
154Allograft rejection_Homo sapiens_hsa053300.24713508
155Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.24402333
156Nitrogen metabolism_Homo sapiens_hsa009100.22754356
157Pancreatic secretion_Homo sapiens_hsa049720.22350983
158Shigellosis_Homo sapiens_hsa051310.20703697
159Proteasome_Homo sapiens_hsa030500.19770270
160Salivary secretion_Homo sapiens_hsa049700.19552094
161Tyrosine metabolism_Homo sapiens_hsa003500.19522970
162T cell receptor signaling pathway_Homo sapiens_hsa046600.18859675
163Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.17823364

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