EFR3A

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 part of a complex that plays a role in maintaining an active pool of phosphatidylinositol 4-kinase (PI4K) at the plasma membrane. This protein is thought to be a peripheral membrane protein that associates with the plasma membrane through palmitoylation. Studies indicate that this gene product plays a role in controlling G protein-coupled receptor (GPCR) activity by affecting receptor phosphorylation. Whole exome sequencing studies have implicated mutations in this gene with autism spectrum disorders. 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 (G7.20063732
2antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.57163971
3antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.57163971
4DNA deamination (GO:0045006)4.26631155
5protein localization to endosome (GO:0036010)4.25201120
6antigen processing and presentation via MHC class Ib (GO:0002475)4.22181844
7neuronal action potential propagation (GO:0019227)4.18254326
8response to interferon-alpha (GO:0035455)4.16156989
9peptidyl-threonine dephosphorylation (GO:0035970)4.07500334
10mature B cell differentiation involved in immune response (GO:0002313)3.88940919
11positive regulation of gamma-delta T cell activation (GO:0046645)3.83331956
12cell adhesion mediated by integrin (GO:0033627)3.81988903
13regulation of B cell receptor signaling pathway (GO:0050855)3.78560252
14positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.74467314
15antigen processing and presentation of endogenous antigen (GO:0019883)3.74335092
16ribosomal small subunit assembly (GO:0000028)3.73433956
17negative regulation of erythrocyte differentiation (GO:0045647)3.71521737
18mature B cell differentiation (GO:0002335)3.67947853
19negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.61276418
20negative regulation of T-helper cell differentiation (GO:0045623)3.61276418
21cytoskeletal anchoring at plasma membrane (GO:0007016)3.58034659
22positive regulation of protein export from nucleus (GO:0046827)3.55775512
23negative regulation of type 2 immune response (GO:0002829)3.39529667
24regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033393.34373687
25positive regulation of glycoprotein biosynthetic process (GO:0010560)3.32641823
26regulation of type B pancreatic cell apoptotic process (GO:2000674)3.30914580
27mast cell activation (GO:0045576)3.30532512
28telomere maintenance via semi-conservative replication (GO:0032201)3.29158596
29regulation of T cell receptor signaling pathway (GO:0050856)3.28608102
30lymphoid progenitor cell differentiation (GO:0002320)3.27737319
31immunoglobulin mediated immune response (GO:0016064)3.25362139
32cellular response to zinc ion (GO:0071294)3.22458426
33response to interferon-beta (GO:0035456)3.21973659
34COPI coating of Golgi vesicle (GO:0048205)3.21343141
35Golgi transport vesicle coating (GO:0048200)3.21343141
36facial nerve structural organization (GO:0021612)3.20865911
37synaptic vesicle docking involved in exocytosis (GO:0016081)3.19454406
38endosome to pigment granule transport (GO:0043485)3.18897773
39endosome to melanosome transport (GO:0035646)3.18897773
40definitive hemopoiesis (GO:0060216)3.18079659
41regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.17633142
42hypotonic response (GO:0006971)3.16142024
43Arp2/3 complex-mediated actin nucleation (GO:0034314)3.13618993
44positive regulation of B cell differentiation (GO:0045579)3.13546360
45necroptotic process (GO:0070266)3.13045965
46negative regulation of granulocyte differentiation (GO:0030853)3.11614911
47negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.08689909
48GDP-mannose metabolic process (GO:0019673)3.08608999
49COPII vesicle coating (GO:0048208)3.08331495
50skin morphogenesis (GO:0043589)3.02959038
51cytokine production involved in immune response (GO:0002367)3.02584192
52barbed-end actin filament capping (GO:0051016)3.01954661
53heparin biosynthetic process (GO:0030210)3.01868158
54heparin metabolic process (GO:0030202)3.01868158
55myeloid dendritic cell activation (GO:0001773)3.01589438
56regulation of early endosome to late endosome transport (GO:2000641)2.99982527
57regulation of B cell differentiation (GO:0045577)2.99929225
58myeloid dendritic cell differentiation (GO:0043011)2.98927774
59negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)2.98080211
60Peyers patch development (GO:0048541)2.96424493
61mucosal-associated lymphoid tissue development (GO:0048537)2.96424493
62B cell mediated immunity (GO:0019724)2.95300944
63hemidesmosome assembly (GO:0031581)2.90786347
64respiratory chain complex IV assembly (GO:0008535)2.90427760
65negative regulation of T cell receptor signaling pathway (GO:0050860)2.89345783
66desmosome organization (GO:0002934)2.88255883
67cellular response to interferon-beta (GO:0035458)2.87124909
68regulation of T cell mediated cytotoxicity (GO:0001914)2.86555913
69defense response to protozoan (GO:0042832)2.83903030
70negative regulation of protein localization to plasma membrane (GO:1903077)2.83402758
71interferon-gamma production (GO:0032609)2.83038601
72mast cell activation involved in immune response (GO:0002279)2.83035150
73mast cell degranulation (GO:0043303)2.83035150
74regulation of ARF protein signal transduction (GO:0032012)2.82959384
75glutamate secretion (GO:0014047)2.82653827
76telomere maintenance via recombination (GO:0000722)2.81748960
77platelet dense granule organization (GO:0060155)2.81428004
78positive regulation of macrophage differentiation (GO:0045651)2.80122849
79iron ion import (GO:0097286)2.79636831
80cell-substrate junction assembly (GO:0007044)2.76831802
81cortical actin cytoskeleton organization (GO:0030866)2.76161486
82response to protozoan (GO:0001562)2.75743174
83execution phase of apoptosis (GO:0097194)2.74992590
84regulation of T-helper 1 cell differentiation (GO:0045625)2.74739032
85negative regulation of metanephros development (GO:0072217)2.74224717
86sodium ion export (GO:0071436)2.72762542
87L-fucose catabolic process (GO:0042355)2.72349792
88fucose catabolic process (GO:0019317)2.72349792
89L-fucose metabolic process (GO:0042354)2.72349792
90response to interleukin-15 (GO:0070672)2.72062405
91vesicle coating (GO:0006901)2.70779242
92type I interferon signaling pathway (GO:0060337)2.70472037
93cellular response to type I interferon (GO:0071357)2.70472037
94negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.69865454
95CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)2.69223984
96response to type I interferon (GO:0034340)2.68524927
97regulation of regulatory T cell differentiation (GO:0045589)2.68210013
98cellular response to ethanol (GO:0071361)2.68040761
99embryonic process involved in female pregnancy (GO:0060136)2.67169560
100lymph node development (GO:0048535)2.66894345
101interferon-gamma-mediated signaling pathway (GO:0060333)2.65277792
102positive regulation of natural killer cell differentiation (GO:0032825)2.64678828
103B cell receptor signaling pathway (GO:0050853)2.64573194
104positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.64560056
105positive regulation of receptor recycling (GO:0001921)2.64443704
106membrane raft organization (GO:0031579)2.63728922
107phospholipid scrambling (GO:0017121)2.63486171
108T cell homeostasis (GO:0043029)2.62872051
109regulation of transforming growth factor beta1 production (GO:0032908)2.62578716
110positive regulation of glycoprotein metabolic process (GO:1903020)2.62331606
111regulation of gamma-delta T cell differentiation (GO:0045586)2.62088379
112regulation of interleukin-12 biosynthetic process (GO:0045075)2.61682115
113membrane invagination (GO:0010324)2.60982417
114actin nucleation (GO:0045010)2.60295648
115positive regulation of T cell mediated cytotoxicity (GO:0001916)2.59511042
116programmed necrotic cell death (GO:0097300)2.58655564
117regulation of epidermal growth factor-activated receptor activity (GO:0007176)2.58253062
118dendritic cell differentiation (GO:0097028)2.58067483
119regulation of erythrocyte differentiation (GO:0045646)2.57885699
120synaptic vesicle exocytosis (GO:0016079)2.56768215
121macroautophagy (GO:0016236)2.56077289
122myeloid leukocyte mediated immunity (GO:0002444)2.54704655
123viral transcription (GO:0019083)2.53388755
124DNA replication initiation (GO:0006270)2.53209734
125positive regulation of lamellipodium assembly (GO:0010592)2.52222989
126inositol phosphate dephosphorylation (GO:0046855)2.50428283
127phosphorylated carbohydrate dephosphorylation (GO:0046838)2.50428283
128cellular potassium ion homeostasis (GO:0030007)2.49385787
129DNA strand elongation involved in DNA replication (GO:0006271)2.48730447
130B cell activation involved in immune response (GO:0002312)2.48680331
131stress fiber assembly (GO:0043149)2.46950244
132positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.44216371
133cellular response to thyroid hormone stimulus (GO:0097067)2.44124772
134negative regulation of fatty acid transport (GO:2000192)2.42768643
135focal adhesion assembly (GO:0048041)2.42290755
136cell-substrate adherens junction assembly (GO:0007045)2.42290755
137positive regulation of fibroblast migration (GO:0010763)2.40051738
138apoptotic cell clearance (GO:0043277)2.38901350
139regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.36780673
140activation of Rac GTPase activity (GO:0032863)2.34369225
141regulation of cholesterol homeostasis (GO:2000188)2.33878126
142cortical cytoskeleton organization (GO:0030865)2.33405705
143positive regulation of cellular response to insulin stimulus (GO:1900078)2.32430120
144negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.31500061
145adherens junction assembly (GO:0034333)2.30684447
146oligosaccharide catabolic process (GO:0009313)2.29616498
147positive regulation of Rap GTPase activity (GO:0032854)2.29036071
148mammary gland epithelial cell proliferation (GO:0033598)2.28075648
149regulation of membrane protein ectodomain proteolysis (GO:0051043)2.25787304
150response to laminar fluid shear stress (GO:0034616)2.25745728
151regulation of glucocorticoid metabolic process (GO:0031943)2.23193683
152positive regulation of extracellular matrix organization (GO:1903055)2.21833063
153regulation of protein localization to plasma membrane (GO:1903076)2.20921669
154regulation of extracellular matrix disassembly (GO:0010715)2.20024808
155detection of molecule of bacterial origin (GO:0032490)2.19732564
156dicarboxylic acid biosynthetic process (GO:0043650)2.19264813
157positive regulation of cellular amide metabolic process (GO:0034250)2.17325276
158maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.17271041
159regulation of clathrin-mediated endocytosis (GO:2000369)2.17267745
160endocytic recycling (GO:0032456)2.16584263
161regulation of macrophage chemotaxis (GO:0010758)2.16220314
162import into cell (GO:0098657)2.15997433
163synaptic vesicle maturation (GO:0016188)2.15879840
164clathrin coat assembly (GO:0048268)2.13960603
165protein retention in ER lumen (GO:0006621)2.13686188
166positive regulation of nitric-oxide synthase activity (GO:0051000)2.13156460
167response to thyroid hormone (GO:0097066)2.12516645
168lipopolysaccharide-mediated signaling pathway (GO:0031663)2.12482544
169negative regulation of anoikis (GO:2000811)2.11865109
170negative regulation of establishment of protein localization to plasma membrane (GO:0090005)2.11343336
171regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022352.09663037
172positive regulation of endothelial cell apoptotic process (GO:2000353)2.09203059
173positive regulation of macroautophagy (GO:0016239)2.08131336
174cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.07746161
175glycosphingolipid catabolic process (GO:0046479)2.07635358
176positive regulation of macrophage cytokine production (GO:0060907)2.07143402
177Rap protein signal transduction (GO:0032486)2.06942094
178surfactant homeostasis (GO:0043129)2.06884658
179cellular response to vitamin D (GO:0071305)2.04233335
180epithelial cell-cell adhesion (GO:0090136)2.03315306
181positive regulation of insulin receptor signaling pathway (GO:0046628)2.01868071
182establishment of endothelial barrier (GO:0061028)2.00538342
183retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)1.99772723
184membrane protein ectodomain proteolysis (GO:0006509)1.99025832
185endodermal cell differentiation (GO:0035987)1.98894249
186negative regulation of dendrite morphogenesis (GO:0050774)1.98002338
187platelet-derived growth factor receptor signaling pathway (GO:0048008)1.96459321
188peptidyl-threonine modification (GO:0018210)1.96320258
189regulation of Rac protein signal transduction (GO:0035020)1.96115933
190regulation of anoikis (GO:2000209)1.95186396
191Golgi to plasma membrane protein transport (GO:0043001)1.95112191
192regulation of receptor recycling (GO:0001919)1.94739387
193insulin-like growth factor receptor signaling pathway (GO:0048009)1.93701368
194phospholipid translocation (GO:0045332)1.93582813
195lipid translocation (GO:0034204)1.93582813
196negative regulation of hydrogen peroxide-induced cell death (GO:1903206)1.92758125
197positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S tr1.92537714
198negative regulation of lipid transport (GO:0032369)1.92171577
199regulation of calcineurin-NFAT signaling cascade (GO:0070884)1.91681694

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human4.91960202
2EZH2_22144423_ChIP-Seq_EOC_Human4.33342743
3E2F7_22180533_ChIP-Seq_HELA_Human4.15420700
4FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.93338948
5MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.70355089
6STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.67047878
7IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.54567349
8IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.42004274
9TP63_17297297_ChIP-ChIP_HaCaT_Human3.39694487
10SCL_19346495_ChIP-Seq_HPC-7_Human3.39083587
11RUNX1_20887958_ChIP-Seq_HPC-7_Mouse3.33429576
12MYB_21317192_ChIP-Seq_ERMYB_Mouse3.24598986
13GATA1_22025678_ChIP-Seq_K562_Human3.18825398
14NOTCH1_21737748_ChIP-Seq_TLL_Human3.09643451
15SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.88453112
16IRF8_21731497_ChIP-ChIP_J774_Mouse2.69194556
17FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.55662309
18RUNX_20019798_ChIP-Seq_JUKART_Human2.54085368
19EGR1_19374776_ChIP-ChIP_THP-1_Human2.49143496
20TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.49060524
21TAL1_20887958_ChIP-Seq_HPC-7_Mouse2.44074283
22SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.43341386
23STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.43304170
24MYB_26560356_Chip-Seq_TH2_Human2.37489729
25NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.36985370
26MYC_22102868_ChIP-Seq_BL_Human2.36448303
27ZNF217_24962896_ChIP-Seq_MCF-7_Human2.35910124
28STAT4_19710469_ChIP-ChIP_TH1__Mouse2.35296844
29SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.32085080
30SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.27914604
31SPI1_23547873_ChIP-Seq_NB4_Human2.25753850
32ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.19898474
33SMAD_19615063_ChIP-ChIP_OVARY_Human2.19847219
34EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.18851482
35IRF8_27001747_Chip-Seq_BMDM_Mouse2.17853132
36ELF1_17652178_ChIP-ChIP_JURKAT_Human2.16040723
37LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.15443661
38CLOCK_20551151_ChIP-Seq_293T_Human2.14925835
39* ERG_20887958_ChIP-Seq_HPC-7_Mouse2.12049166
40* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse2.07188834
41FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.06745810
42IGF1R_20145208_ChIP-Seq_DFB_Human2.00009782
43MYB_26560356_Chip-Seq_TH1_Human1.96162955
44ESR2_21235772_ChIP-Seq_MCF-7_Human1.94678173
45VDR_24763502_ChIP-Seq_THP-1_Human1.91487107
46SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.88437777
47SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.88437777
48CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.86102451
49ESR1_20079471_ChIP-ChIP_T-47D_Human1.86074439
50ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.86070595
51GATA2_21666600_ChIP-Seq_HMVEC_Human1.84863265
52TRIM28_21343339_ChIP-Seq_HEK293_Human1.84332146
53SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.82486276
54LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.81031341
55CDX2_19796622_ChIP-Seq_MESCs_Mouse1.79451815
56GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.79138805
57MAF_26560356_Chip-Seq_TH1_Human1.76908078
58SPI1_23127762_ChIP-Seq_K562_Human1.74789691
59PPAR_26484153_Chip-Seq_NCI-H1993_Human1.69749116
60VDR_21846776_ChIP-Seq_THP-1_Human1.68346236
61ESR1_21235772_ChIP-Seq_MCF-7_Human1.67771791
62EP300_21415370_ChIP-Seq_HL-1_Mouse1.65637682
63TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.65615147
64SALL4_18804426_ChIP-ChIP_XEN_Mouse1.65414782
65FOXO3_23340844_ChIP-Seq_DLD1_Human1.64525976
66HOXB4_20404135_ChIP-ChIP_EML_Mouse1.62511126
67TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.61869799
68MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.60998485
69CTNNB1_20460455_ChIP-Seq_HCT116_Human1.57583101
70SOX9_24532713_ChIP-Seq_HFSC_Mouse1.56652726
71RUNX1_22412390_ChIP-Seq_EML_Mouse1.56391799
72NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.55768734
73SOX2_27498859_Chip-Seq_STOMACH_Mouse1.55590380
74PU_27001747_Chip-Seq_BMDM_Mouse1.55071827
75RARG_19884340_ChIP-ChIP_MEFs_Mouse1.52230609
76RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.51848541
77KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.50583022
78BRD4_27068464_Chip-Seq_AML-cells_Mouse1.47766631
79RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.47143613
80SOX2_20726797_ChIP-Seq_SW620_Human1.46814338
81UTX_26944678_Chip-Seq_JUKART_Human1.46202690
82ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.45395512
83MYC_18555785_ChIP-Seq_MESCs_Mouse1.44599265
84* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.41159764
85* NRF2_20460467_ChIP-Seq_MEFs_Mouse1.41159764
86TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.41158755
87ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.40399673
88BRD4_25478319_ChIP-Seq_HGPS_Human1.39934436
89BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.39730979
90LXR_22158963_ChIP-Seq_LIVER_Mouse1.38346492
91TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.38126278
92* VDR_23849224_ChIP-Seq_CD4+_Human1.37726710
93* CJUN_26792858_Chip-Seq_BT549_Human1.36693117
94TBX20_22328084_ChIP-Seq_HEART_Mouse1.35517350
95TBX20_22080862_ChIP-Seq_HEART_Mouse1.35517350
96WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.34854589
97RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.34568026
98PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.34317049
99FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.33052340
100TCF7_22412390_ChIP-Seq_EML_Mouse1.32820382
101KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.32668816
102TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.32346445
103FOXA2_19822575_ChIP-Seq_HepG2_Human1.31933785
104E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.31618875
105IKZF1_21737484_ChIP-ChIP_HCT116_Human1.30580365
106HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.29515448
107AHR_22903824_ChIP-Seq_MCF-7_Human1.29334921
108* GATA3_27048872_Chip-Seq_THYMUS_Human1.27897299
109FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.27811936
110RXR_22158963_ChIP-Seq_LIVER_Mouse1.27338903
111SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.27051779
112GATA2_22383799_ChIP-Seq_G1ME_Mouse1.26415472
113WT1_19549856_ChIP-ChIP_CCG9911_Human1.21381588
114PPARG_20176806_ChIP-Seq_3T3-L1_Mouse1.20775670
115PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.20541585
116P300_27058665_Chip-Seq_ZR-75-30cells_Human1.19955018
117DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.19371569
118CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.17414121
119GATA1_19941827_ChIP-Seq_MEL_Mouse1.14825951
120TP53_16413492_ChIP-PET_HCT116_Human1.14239007
121* TP63_23658742_ChIP-Seq_EP156T_Human1.12982360
122FOXP3_21729870_ChIP-Seq_TREG_Human1.10832836
123RBPJ_22232070_ChIP-Seq_NCS_Mouse1.08726912
124ELK1_19687146_ChIP-ChIP_HELA_Human1.08708767
125GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.08539935
126E2F4_17652178_ChIP-ChIP_JURKAT_Human1.07678224
127TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.07427698
128E2F1_21310950_ChIP-Seq_MCF-7_Human1.07176871
129GATA1_22383799_ChIP-Seq_G1ME_Mouse1.06759280
130GATA3_26560356_Chip-Seq_TH2_Human1.05724674
131FOXM1_26456572_ChIP-Seq_MCF-7_Human1.05346954
132VDR_24787735_ChIP-Seq_THP-1_Human1.04945128
133PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.04152235
134THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.01974791
135NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.00314923
136ARNT_22903824_ChIP-Seq_MCF-7_Human0.99975092
137CIITA_25753668_ChIP-Seq_RAJI_Human0.97543013
138Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.97429239
139ETS1_22383799_ChIP-Seq_G1ME_Mouse0.95834371
140CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.95711100
141PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.95573656
142FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.93570045
143JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.92552144
144PU.1_20513432_ChIP-Seq_Bcells_Mouse0.91756879
145KDM2B_26808549_Chip-Seq_K562_Human0.91358682
146NR3C1_23031785_ChIP-Seq_PC12_Mouse0.90559218
147VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.90400498
148KDM2B_26808549_Chip-Seq_SUP-B15_Human0.90153991
149PPARA_22158963_ChIP-Seq_LIVER_Mouse0.90059896
150NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.89965710
151PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.89859515
152NFIB_24661679_ChIP-Seq_LUNG_Mouse0.89625472
153FLI1_27457419_Chip-Seq_LIVER_Mouse0.88952624
154* FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.88862968
155EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.88773362
156ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.88669050
157STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.88456135
158PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.87392277
159TP53_18474530_ChIP-ChIP_U2OS_Human0.86820078
160MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.86577456
161MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse0.86569497
162MYC_18358816_ChIP-ChIP_MESCs_Mouse0.86343412
163* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84979587
164GABP_17652178_ChIP-ChIP_JURKAT_Human0.83790157
165CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.82328594
166ZFX_18555785_ChIP-Seq_MESCs_Mouse0.82143148
167SRF_21415370_ChIP-Seq_HL-1_Mouse0.78260756
168FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.78040051
169GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.77702998
170CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.76027185
171NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.76010591
172MAF_26560356_Chip-Seq_TH2_Human0.74896350
173NOTCH1_17114293_ChIP-ChIP_T-ALL_Human0.74080668
174SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.70954274
175DCP1A_22483619_ChIP-Seq_HELA_Human0.69794406
176KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.69577346
177BCAT_22108803_ChIP-Seq_LS180_Human0.68697563

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010234_abnormal_vibrissa_follicle4.06279383
2MP0001835_abnormal_antigen_presentation3.49394950
3MP0003705_abnormal_hypodermis_morpholog3.27402191
4MP0010352_gastrointestinal_tract_polyps3.11132594
5MP0008438_abnormal_cutaneous_collagen3.10795867
6MP0005174_abnormal_tail_pigmentation3.06839593
7MP0001188_hyperpigmentation2.91693772
8MP0009379_abnormal_foot_pigmentation2.91009624
9MP0005671_abnormal_response_to2.88933889
10MP0003566_abnormal_cell_adhesion2.79979364
11MP0000685_abnormal_immune_system2.75292221
12MP0003763_abnormal_thymus_physiology2.64515441
13MP0002396_abnormal_hematopoietic_system2.57294847
14MP0003646_muscle_fatigue2.56286337
15MP0009780_abnormal_chondrocyte_physiolo2.53901662
16MP0000015_abnormal_ear_pigmentation2.49969666
17MP0009785_altered_susceptibility_to2.48724943
18MP0002166_altered_tumor_susceptibility2.46653561
19MP0001853_heart_inflammation2.31788262
20MP0003436_decreased_susceptibility_to2.27596197
21MP0003091_abnormal_cell_migration2.23119529
22MP0004808_abnormal_hematopoietic_stem2.15314220
23MP0005451_abnormal_body_composition2.13878382
24MP0002006_tumorigenesis2.12778479
25MP0000372_irregular_coat_pigmentation2.11970182
26MP0005075_abnormal_melanosome_morpholog2.10199312
27MP0003879_abnormal_hair_cell2.07780282
28MP0002420_abnormal_adaptive_immunity2.03952825
29MP0001800_abnormal_humoral_immune2.03844615
30MP0005025_abnormal_response_to2.02306772
31MP0001819_abnormal_immune_cell2.01695386
32MP0002148_abnormal_hypersensitivity_rea1.99509316
33MP0003724_increased_susceptibility_to1.98903837
34MP0005000_abnormal_immune_tolerance1.98771488
35MP0002723_abnormal_immune_serum1.96896391
36MP0002398_abnormal_bone_marrow1.95716244
37MP0008569_lethality_at_weaning1.94605257
38MP0003866_abnormal_defecation1.93252754
39MP0002452_abnormal_antigen_presenting1.92382504
40MP0003690_abnormal_glial_cell1.87914741
41MP0005275_abnormal_skin_tensile1.87690117
42MP0000490_abnormal_crypts_of1.85493147
43MP0009840_abnormal_foam_cell1.82920687
44MP0002095_abnormal_skin_pigmentation1.82457822
45MP0003453_abnormal_keratinocyte_physiol1.76742817
46MP0002419_abnormal_innate_immunity1.74526611
47MP0004510_myositis1.65736193
48MP0000716_abnormal_immune_system1.63919706
49MP0005397_hematopoietic_system_phenotyp1.63902982
50MP0001545_abnormal_hematopoietic_system1.63902982
51MP0005387_immune_system_phenotype1.63685398
52MP0001790_abnormal_immune_system1.63685398
53MP0000689_abnormal_spleen_morphology1.59030436
54MP0005464_abnormal_platelet_physiology1.58989156
55MP0003329_amyloid_beta_deposits1.58345641
56MP0000604_amyloidosis1.57651496
57MP0002139_abnormal_hepatobiliary_system1.57103464
58MP0005023_abnormal_wound_healing1.56612121
59MP0002638_abnormal_pupillary_reflex1.56400563
60MP0001958_emphysema1.54515832
61MP0002722_abnormal_immune_system1.50468227
62MP0010155_abnormal_intestine_physiology1.45619438
63MP0004859_abnormal_synaptic_plasticity1.44782298
64MP0003279_aneurysm1.44402904
65MP0004272_abnormal_basement_membrane1.43866839
66MP0002060_abnormal_skin_morphology1.43208040
67MP0003868_abnormal_feces_composition1.42635615
68MP0002796_impaired_skin_barrier1.41580089
69MP0003045_fibrosis1.41417543
70MP0003950_abnormal_plasma_membrane1.41116369
71MP0002896_abnormal_bone_mineralization1.39931816
72MP0000920_abnormal_myelination1.39094717
73MP0010678_abnormal_skin_adnexa1.37411868
74MP0002429_abnormal_blood_cell1.37126018
75MP0009333_abnormal_splenocyte_physiolog1.36506132
76MP0000681_abnormal_thyroid_gland1.36388128
77MP0002876_abnormal_thyroid_physiology1.33392543
78MP0004147_increased_porphyrin_level1.32691290
79MP0004947_skin_inflammation1.32254988
80MP0000703_abnormal_thymus_morphology1.30858906
81MP0005257_abnormal_intraocular_pressure1.30234684
82MP0003880_abnormal_central_pattern1.29286304
83MP0004233_abnormal_muscle_weight1.27268522
84MP0000465_gastrointestinal_hemorrhage1.27262644
85MP0004185_abnormal_adipocyte_glucose1.27053164
86MP0004270_analgesia1.26725793
87MP0006082_CNS_inflammation1.25138474
88MP0005165_increased_susceptibility_to1.24290882
89MP0001845_abnormal_inflammatory_respons1.23680326
90MP0003635_abnormal_synaptic_transmissio1.22225271
91MP0003448_altered_tumor_morphology1.21942080
92MP0003172_abnormal_lysosome_physiology1.20969323
93MP0003303_peritoneal_inflammation1.19921513
94MP0009046_muscle_twitch1.18722798
95MP0005164_abnormal_response_to1.17863650
96MP0005076_abnormal_cell_differentiation1.17474185
97MP0002877_abnormal_melanocyte_morpholog1.17307828
98MP0001501_abnormal_sleep_pattern1.16593308
99MP0000858_altered_metastatic_potential1.16359656
100MP0005409_darkened_coat_color1.15929511
101MP0002405_respiratory_system_inflammati1.15611333
102MP0001873_stomach_inflammation1.15180616
103MP0005166_decreased_susceptibility_to1.13309140
104MP0001986_abnormal_taste_sensitivity1.12961508
105MP0001851_eye_inflammation1.12696065
106MP0005623_abnormal_meninges_morphology1.10459477
107MP0000013_abnormal_adipose_tissue1.10413350
108MP0001849_ear_inflammation1.09298909
109MP0002009_preneoplasia1.08628586
110MP0003183_abnormal_peptide_metabolism1.08304115
111MP0003656_abnormal_erythrocyte_physiolo1.05340072
112MP0000003_abnormal_adipose_tissue1.05017419
113MP0004036_abnormal_muscle_relaxation1.03275139
114MP0008260_abnormal_autophagy1.02039413
115MP0000569_abnormal_digit_pigmentation1.01803744
116MP0005551_abnormal_eye_electrophysiolog0.99207399
117MP0008469_abnormal_protein_level0.99142064
118MP0001348_abnormal_lacrimal_gland0.97865061
119MP0005375_adipose_tissue_phenotype0.97852428
120MP0001533_abnormal_skeleton_physiology0.96675136
121MP0003959_abnormal_lean_body0.95341236
122MP0002332_abnormal_exercise_endurance0.94358541
123MP0006292_abnormal_olfactory_placode0.94185502
124MP0008007_abnormal_cellular_replicative0.93961939
125MP0002272_abnormal_nervous_system0.93863417
126MP0009745_abnormal_behavioral_response0.92198605
127MP0003252_abnormal_bile_duct0.92132435
128MP0000371_diluted_coat_color0.92095803
129MP0003941_abnormal_skin_development0.91380769
130MP0005621_abnormal_cell_physiology0.89917995
131MP0005365_abnormal_bile_salt0.88591203
132MP0002019_abnormal_tumor_incidence0.88116516
133MP0005666_abnormal_adipose_tissue0.87705673
134MP0001915_intracranial_hemorrhage0.87655622
135MP0000747_muscle_weakness0.87436988
136MP0010386_abnormal_urinary_bladder0.86995698
137MP0000751_myopathy0.86941234
138MP0002971_abnormal_brown_adipose0.86521242
139MP0002693_abnormal_pancreas_physiology0.86507176
140MP0000733_abnormal_muscle_development0.85356864
141MP0002933_joint_inflammation0.85182753
142MP0008874_decreased_physiological_sensi0.84611926
143MP0003300_gastrointestinal_ulcer0.84519192
144MP0002067_abnormal_sensory_capabilities0.83959108
145MP0000358_abnormal_cell_content/0.82048096
146MP0002909_abnormal_adrenal_gland0.81704370
147MP0004264_abnormal_extraembryonic_tissu0.81383335
148MP0005058_abnormal_lysosome_morphology0.78243520
149MP0004484_altered_response_of0.77902278
150MP0004087_abnormal_muscle_fiber0.77809465
151MP0000343_altered_response_to0.76645803
152MP0002064_seizures0.75892851
153MP0001666_abnormal_nutrient_absorption0.75766052
154MP0000767_abnormal_smooth_muscle0.75593320
155MP0002998_abnormal_bone_remodeling0.75273011
156MP0002269_muscular_atrophy0.74612854
157MP0001216_abnormal_epidermal_layer0.74599988
158MP0000759_abnormal_skeletal_muscle0.74211770
159MP0002075_abnormal_coat/hair_pigmentati0.73903556
160MP0004130_abnormal_muscle_cell0.72326573
161MP0003634_abnormal_glial_cell0.71904293
162MP0008004_abnormal_stomach_pH0.71160047
163MP0000627_abnormal_mammary_gland0.70370834
164MP0002090_abnormal_vision0.70200078
165MP0002168_other_aberrant_phenotype0.70166895
166MP0004084_abnormal_cardiac_muscle0.69894369
167MP0003191_abnormal_cellular_cholesterol0.69347866
168MP0001502_abnormal_circadian_rhythm0.69077359
169MP0006054_spinal_hemorrhage0.68913067
170MP0001944_abnormal_pancreas_morphology0.68021120
171MP0003828_pulmonary_edema0.67445235
172MP0003633_abnormal_nervous_system0.67310105
173MP0003075_altered_response_to0.63424941
174MP0010307_abnormal_tumor_latency0.60034390
175MP0001968_abnormal_touch/_nociception0.59843992
176MP0003693_abnormal_embryo_hatching0.59220932

Predicted human phenotypes

RankGene SetZ-score
1Reduced antithrombin III activity (HP:0001976)6.23776070
2Type I transferrin isoform profile (HP:0003642)5.89925356
3Hypothermia (HP:0002045)5.31398538
4Abnormal glycosylation (HP:0012345)4.55822492
5Abnormal isoelectric focusing of serum transferrin (HP:0003160)4.55822492
6Abnormal protein N-linked glycosylation (HP:0012347)4.55822492
7Abnormal protein glycosylation (HP:0012346)4.55822492
8Thrombocytosis (HP:0001894)4.00366635
9Thyroid-stimulating hormone excess (HP:0002925)3.65213688
10Absent rod-and cone-mediated responses on ERG (HP:0007688)3.58357483
11Severe visual impairment (HP:0001141)3.47333554
12Myositis (HP:0100614)3.44923624
13Elevated erythrocyte sedimentation rate (HP:0003565)3.44045651
14Osteolytic defects of the hand bones (HP:0009699)3.37563649
15Osteolytic defects of the phalanges of the hand (HP:0009771)3.37563649
16Focal motor seizures (HP:0011153)3.31075177
17Chronic otitis media (HP:0000389)3.21666051
18Abnormal rod and cone electroretinograms (HP:0008323)3.10714305
19Ankle contracture (HP:0006466)3.07958620
20Cortical visual impairment (HP:0100704)2.99886778
21Arterial tortuosity (HP:0005116)2.93829673
22Premature rupture of membranes (HP:0001788)2.91275310
23Recurrent bronchitis (HP:0002837)2.83681174
24Gaze-evoked nystagmus (HP:0000640)2.83664599
25IgM deficiency (HP:0002850)2.82826758
26Vascular tortuosity (HP:0004948)2.80517599
27Nonprogressive disorder (HP:0003680)2.80155152
28Horizontal nystagmus (HP:0000666)2.79472087
29Mitral stenosis (HP:0001718)2.77861846
30Protrusio acetabuli (HP:0003179)2.77838896
31Aplastic anemia (HP:0001915)2.75739358
32Abnormality of glycolipid metabolism (HP:0010969)2.74783136
33Abnormality of liposaccharide metabolism (HP:0010968)2.74783136
34Abnormality of glycosphingolipid metabolism (HP:0004343)2.74783136
35Albinism (HP:0001022)2.69741992
36Neurofibrillary tangles (HP:0002185)2.69535056
37Thoracic kyphosis (HP:0002942)2.69312281
38Abnormality of T cell physiology (HP:0011840)2.67386656
39Meningitis (HP:0001287)2.65523702
40Attenuation of retinal blood vessels (HP:0007843)2.65425506
41Cerebral inclusion bodies (HP:0100314)2.62785204
42Stomatitis (HP:0010280)2.62614148
43Abnormal delayed hypersensitivity skin test (HP:0002963)2.61340916
44Mediastinal lymphadenopathy (HP:0100721)2.58604096
45Febrile seizures (HP:0002373)2.58493161
46Visual hallucinations (HP:0002367)2.57871768
47Spinal canal stenosis (HP:0003416)2.55827042
48Abnormal number of erythroid precursors (HP:0012131)2.51649622
49Aortic aneurysm (HP:0004942)2.45564685
50Lower limb hyperreflexia (HP:0002395)2.45108497
51Papilledema (HP:0001085)2.41298871
52Abnormality of cells of the erythroid lineage (HP:0012130)2.40860724
53Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.40834199
54Recurrent abscess formation (HP:0002722)2.39112870
55Nasal polyposis (HP:0100582)2.35461923
56Type 2 muscle fiber atrophy (HP:0003554)2.33785468
57Subacute progressive viral hepatitis (HP:0006572)2.32997618
58Aortic dissection (HP:0002647)2.31217785
59Cerebral aneurysm (HP:0004944)2.29587800
60Abnormality of T cells (HP:0002843)2.29306832
61Atonic seizures (HP:0010819)2.29233722
62Ocular albinism (HP:0001107)2.28556619
63Congenital stationary night blindness (HP:0007642)2.27487166
64Recurrent viral infections (HP:0004429)2.25220204
65Muscle fiber atrophy (HP:0100295)2.22930675
66Mucopolysacchariduria (HP:0008155)2.22467976
67Urinary glycosaminoglycan excretion (HP:0003541)2.22467976
68Bundle branch block (HP:0011710)2.21477658
69Abnormality of the thoracic spine (HP:0100711)2.21353418
70Right ventricular cardiomyopathy (HP:0011663)2.20553296
71Limb ataxia (HP:0002070)2.17468293
72Hemiplegia (HP:0002301)2.17378089
73Type 1 muscle fiber predominance (HP:0003803)2.17087023
74Atrophic scars (HP:0001075)2.16824870
75Panhypogammaglobulinemia (HP:0003139)2.16300729
76Vertebral compression fractures (HP:0002953)2.14617328
77Myocardial infarction (HP:0001658)2.14331289
78Microcytic anemia (HP:0001935)2.14101455
79Broad face (HP:0000283)2.14001060
80Abnormality of the nasal mucosa (HP:0000433)2.12508623
81Prolonged bleeding time (HP:0003010)2.12476912
82Impaired smooth pursuit (HP:0007772)2.11544675
83Termporal pattern (HP:0011008)2.10519762
84Insidious onset (HP:0003587)2.10519762
85Abnormal platelet function (HP:0011869)2.08851632
86Impaired platelet aggregation (HP:0003540)2.08851632
87Amaurosis fugax (HP:0100576)2.06555963
88Tetraparesis (HP:0002273)2.06374736
89Distal lower limb muscle weakness (HP:0009053)2.05991645
90Hyporeflexia of lower limbs (HP:0002600)2.05327600
91Ankyloglossia (HP:0010296)2.04754151
92Abnormality of B cell number (HP:0010975)2.03938351
93B lymphocytopenia (HP:0010976)2.03938351
94Dysostosis multiplex (HP:0000943)2.03466251
95Spondylolisthesis (HP:0003302)2.02566457
96Iris hypopigmentation (HP:0007730)2.02048059
97Increased connective tissue (HP:0009025)2.01008974
98Abnormality of the prostate (HP:0008775)2.00822829
99Abnormality of polysaccharide metabolism (HP:0011012)2.00775418
100Abnormality of glycosaminoglycan metabolism (HP:0004371)2.00775418
101Abnormality of mucopolysaccharide metabolism (HP:0011020)2.00775418
102Syringomyelia (HP:0003396)2.00404901
103Spinal cord lesions (HP:0100561)2.00404901
104Dysmetric saccades (HP:0000641)1.98678127
105Agnosia (HP:0010524)1.98654582
106Increased hepatocellular lipid droplets (HP:0006565)1.97967177
107Recurrent fungal infections (HP:0002841)1.97020293
108Epistaxis (HP:0000421)1.96092956
109Asymmetric septal hypertrophy (HP:0001670)1.95589503
110Overgrowth (HP:0001548)1.94868033
111Distal lower limb amyotrophy (HP:0008944)1.94758621
112Arterial thrombosis (HP:0004420)1.94695343
113Nemaline bodies (HP:0003798)1.94480016
114Aneurysm (HP:0002617)1.93928501
115Increased neuronal autofluorescent lipopigment (HP:0002074)1.93858774
116Recurrent cutaneous fungal infections (HP:0011370)1.93325567
117Chronic mucocutaneous candidiasis (HP:0002728)1.93325567
118Absent frontal sinuses (HP:0002688)1.93313453
119Supranuclear gaze palsy (HP:0000605)1.92964945
120Abnormality of the columella (HP:0009929)1.92716713
121Eczematoid dermatitis (HP:0000976)1.92390216
122Abnormality of skeletal muscle fiber size (HP:0012084)1.91802184
123Increased variability in muscle fiber diameter (HP:0003557)1.91780720
124Scanning speech (HP:0002168)1.91762091
125Abnormality of oral frenula (HP:0000190)1.91295998
126Dilatation of the ascending aorta (HP:0005111)1.90654895
127Progressive cerebellar ataxia (HP:0002073)1.90541799
128Abnormality of ocular smooth pursuit (HP:0000617)1.90347968
129Skin nodule (HP:0200036)1.89530967
130Hyperpituitarism (HP:0010514)1.88936315
131Recurrent bacterial skin infections (HP:0005406)1.88834370
132Cardiovascular calcification (HP:0011915)1.88681671
133Petechiae (HP:0000967)1.87696214
134Wormian bones (HP:0002645)1.87463667
135Abnormality of the common coagulation pathway (HP:0010990)1.87443290
136Interstitial pulmonary disease (HP:0006530)1.87312643
137Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.86826566
138Agammaglobulinemia (HP:0004432)1.86526426
139Poikiloderma (HP:0001029)1.86401677
140Exertional dyspnea (HP:0002875)1.85965548
141Acute myeloid leukemia (HP:0004808)1.85955126
142Chest pain (HP:0100749)1.85859540
143Papillary thyroid carcinoma (HP:0002895)1.83487662
144Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.82619840
145Orchitis (HP:0100796)1.81693000
146Optic neuritis (HP:0100653)1.81521590
147Retrobulbar optic neuritis (HP:0100654)1.81521590
148Asymmetry of the thorax (HP:0001555)1.81516515
149Chronic sinusitis (HP:0011109)1.80924091
150Gastrointestinal inflammation (HP:0004386)1.80386146
151Lower limb amyotrophy (HP:0007210)1.79916706
152Fragile skin (HP:0001030)1.79757462
153Chronic obstructive pulmonary disease (HP:0006510)1.79006238
154Obstructive lung disease (HP:0006536)1.79006238
155Thin bony cortex (HP:0002753)1.78087084
156Absence seizures (HP:0002121)1.77670317
157Basal ganglia calcification (HP:0002135)1.77102012
158T lymphocytopenia (HP:0005403)1.76231662
159IgG deficiency (HP:0004315)1.75848678
160Amyloidosis (HP:0011034)1.75689896
161Mildly elevated creatine phosphokinase (HP:0008180)1.75656013
162Increased cerebral lipofuscin (HP:0011813)1.75521772
163Periodontitis (HP:0000704)1.74989430
164Hemoptysis (HP:0002105)1.74916989
165Annular pancreas (HP:0001734)1.74795472
166Muscle fiber inclusion bodies (HP:0100299)1.73684646
167Striae distensae (HP:0001065)1.72609101
168Cervical subluxation (HP:0003308)1.72331725
169Menstrual irregularities (HP:0000858)1.71220135
170Hyperparathyroidism (HP:0000843)1.71152474
171Axonal loss (HP:0003447)1.70641431
172Abnormality of monocarboxylic acid metabolism (HP:0010996)1.69425257
173Spinal rigidity (HP:0003306)1.68725809
174Obstructive sleep apnea (HP:0002870)1.68156072
175Resting tremor (HP:0002322)1.68111632
176Short nail (HP:0001799)1.67067289
177Bone pain (HP:0002653)1.66828788
178Gingivitis (HP:0000230)1.66738812
179Apathy (HP:0000741)1.66643038
180Abnormality of complement system (HP:0005339)1.66495137
181Atrioventricular block (HP:0001678)1.64632950
182Vascular calcification (HP:0004934)1.63807434
183Centrally nucleated skeletal muscle fibers (HP:0003687)1.61929659
184Flat acetabular roof (HP:0003180)1.61216716
185Exercise-induced myalgia (HP:0003738)1.59304252
186Conjugated hyperbilirubinemia (HP:0002908)1.56973701
187Mitral valve prolapse (HP:0001634)1.55285624
188Complement deficiency (HP:0004431)1.54353060
189Abnormality of the left ventricular outflow tract (HP:0011103)1.54072316
190Subaortic stenosis (HP:0001682)1.54072316
191Malnutrition (HP:0004395)1.53591514
192Loss of speech (HP:0002371)1.53071982
193Increased CSF protein (HP:0002922)1.51605584
194Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.50814886
195Micronodular cirrhosis (HP:0001413)1.49731341
196Diminished motivation (HP:0000745)1.49570912

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TNIK6.68056204
2CAMKK23.99218239
3EIF2AK33.60547168
4NLK3.19661326
5MUSK2.89618764
6PRPF4B2.81638504
7MST1R2.76890720
8NME22.75639131
9KIT2.42229080
10MAP3K122.41378006
11PDGFRA2.41231840
12LATS22.39712881
13MAP2K72.38930236
14CDK192.35110067
15TEC2.32821337
16SCYL22.25787456
17MAP3K22.18304374
18TTN2.13811617
19FLT32.10609085
20MAP3K91.98969880
21CAMKK11.97372263
22NEK91.89929493
23RIPK41.87940358
24BMPR21.87301832
25MAP4K11.81452668
26FES1.78989318
27KSR21.74808666
28MKNK21.68814778
29JAK31.66748815
30FGFR31.61461550
31MET1.61260316
32TRPM71.60968889
33STK241.51110357
34FGFR41.46799996
35TRIB31.46342749
36ZAP701.43423299
37TXK1.42703479
38CAMK11.39921815
39TNK21.39427918
40MAP3K131.37432628
41NTRK11.33950922
42BTK1.32568492
43ERN11.28537098
44SIK11.27870130
45PTK21.25237140
46LATS11.18980605
47TYK21.18241201
48MAP2K31.17265760
49PDGFRB1.16203007
50SGK31.13321118
51NEK61.10606907
52IRAK41.09891065
53PAK61.09792498
54CDK121.08775852
55DDR21.07948560
56MAP3K31.07187308
57SYK1.07100061
58CSF1R1.06192237
59ICK1.05547802
60WEE11.03336769
61PAK41.02212006
62STK381.02099286
63MAP3K41.00409233
64KSR11.00098999
65EPHA20.99656666
66TBK10.96358527
67TGFBR20.94084417
68CDK60.92663045
69NTRK30.91892628
70IRAK30.91846442
71MATK0.91778261
72MYLK0.90950414
73TESK10.89597238
74DAPK10.87628827
75PDPK10.86933255
76DMPK0.86460101
77WNK10.86148671
78MAP2K40.85544018
79JAK10.84697889
80STK38L0.84503367
81CDC42BPA0.82840010
82DAPK20.82627257
83IKBKE0.80926934
84TAOK20.80917318
85IKBKB0.79194800
86MAP3K60.78684576
87ACVR1B0.77999003
88HIPK20.77391991
89STK30.76338401
90PRKG20.76230287
91MKNK10.75919149
92LIMK10.73753946
93PIM20.73375060
94EPHB10.72451837
95FER0.72434004
96MAP3K10.69946406
97IRAK20.68390511
98RPS6KA40.67835478
99MELK0.67441509
100LCK0.67359787
101BRSK20.66782260
102EIF2AK20.64297049
103RET0.63855125
104VRK10.63428895
105ERBB40.62034140
106PAK20.61522465
107LMTK20.61139148
108MAPK70.60277364
109ITK0.60052395
110CAMK1D0.59537161
111MST40.59254962
112MAP3K50.58881465
113AKT30.58745624
114CAMK1G0.56601383
115CDC70.56088947
116ALK0.56034839
117MARK20.55475980
118ROCK20.55104094
119PIK3CG0.54930731
120ERBB30.54656144
121PDK10.54056935
122SIK30.53425072
123LYN0.53155050
124MTOR0.52709627
125STK160.52030556
126MAPK120.51941528
127CAMK2G0.51499252
128CAMK2B0.51304454
129JAK20.51252843
130PKN20.50768472
131CAMK40.49904184
132NEK10.49707348
133RAF10.49602254
134BMX0.49371279
135PRKCH0.49300551
136PDK40.47911569
137PDK30.47911569
138MAPK40.46252057
139PIM10.45904923
140PRKD20.45536884
141GRK70.44510311
142CDK40.43989883
143TAOK30.42124539
144TGFBR10.41614058
145MINK10.40250783
146HCK0.39701260
147SGK20.39687505
148MOS0.38190305
149CLK10.37027370
150YES10.36704402
151ADRBK20.35906110
152RPS6KB10.35655251
153MAP3K140.35582108
154MAP3K110.35309460
155TLK10.34914830
156MAP2K60.34751575
157CCNB10.34266966
158MAP3K70.33318601
159CDK80.29664091
160EEF2K0.28855684
161MAPK110.27752317
162CSK0.27219278
163PDK20.27177277
164ARAF0.25503700
165LRRK20.25399238
166GRK60.24290992
167RIPK10.23580560
168MAPKAPK50.23253191

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030303.07303883
2Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.55756678
3Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.41245560
4N-Glycan biosynthesis_Homo sapiens_hsa005102.30366772
5Thyroid cancer_Homo sapiens_hsa052162.04364858
6Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.98465157
7Primary immunodeficiency_Homo sapiens_hsa053401.96739062
8Nicotine addiction_Homo sapiens_hsa050331.75224890
9Ribosome_Homo sapiens_hsa030101.68178550
10Mismatch repair_Homo sapiens_hsa034301.65407363
11Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.64954682
12Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.61545611
13Leishmaniasis_Homo sapiens_hsa051401.51499156
14Synaptic vesicle cycle_Homo sapiens_hsa047211.47451465
15B cell receptor signaling pathway_Homo sapiens_hsa046621.47231449
16Long-term potentiation_Homo sapiens_hsa047201.41726214
17RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.40000279
18Antigen processing and presentation_Homo sapiens_hsa046121.39044984
19Aldosterone synthesis and secretion_Homo sapiens_hsa049251.36856332
20Acute myeloid leukemia_Homo sapiens_hsa052211.35381432
21Osteoclast differentiation_Homo sapiens_hsa043801.34717487
22Measles_Homo sapiens_hsa051621.32169029
23Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.30031417
24Focal adhesion_Homo sapiens_hsa045101.27676403
25Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.26875077
26Amoebiasis_Homo sapiens_hsa051461.25610134
27Proteoglycans in cancer_Homo sapiens_hsa052051.23921187
28Renal cell carcinoma_Homo sapiens_hsa052111.23057766
29Lysosome_Homo sapiens_hsa041421.23006065
30Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.21036402
31Toll-like receptor signaling pathway_Homo sapiens_hsa046201.19787867
32Adherens junction_Homo sapiens_hsa045201.17990136
33Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.17731219
34Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.17222114
35Vitamin B6 metabolism_Homo sapiens_hsa007501.16243066
36Prion diseases_Homo sapiens_hsa050201.14894347
37Circadian entrainment_Homo sapiens_hsa047131.14064311
38Glioma_Homo sapiens_hsa052141.12780500
39Chronic myeloid leukemia_Homo sapiens_hsa052201.11556695
40Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.09122578
41Type II diabetes mellitus_Homo sapiens_hsa049301.08878629
42NF-kappa B signaling pathway_Homo sapiens_hsa040641.07297123
43Pancreatic cancer_Homo sapiens_hsa052121.06535182
44Leukocyte transendothelial migration_Homo sapiens_hsa046701.05261698
45Type I diabetes mellitus_Homo sapiens_hsa049401.04100807
46Morphine addiction_Homo sapiens_hsa050321.03788058
47Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.03658226
48Base excision repair_Homo sapiens_hsa034101.02601348
49Jak-STAT signaling pathway_Homo sapiens_hsa046301.02437931
50Herpes simplex infection_Homo sapiens_hsa051681.01844371
51Thyroid hormone signaling pathway_Homo sapiens_hsa049190.99447465
52Hepatitis B_Homo sapiens_hsa051610.99273433
53Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.98288188
54Amphetamine addiction_Homo sapiens_hsa050310.98048961
55Other glycan degradation_Homo sapiens_hsa005110.97828843
56Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.97429578
57Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.96872100
58ErbB signaling pathway_Homo sapiens_hsa040120.96775716
59Hepatitis C_Homo sapiens_hsa051600.96385346
60mTOR signaling pathway_Homo sapiens_hsa041500.96091466
61Insulin signaling pathway_Homo sapiens_hsa049100.95843600
62Nucleotide excision repair_Homo sapiens_hsa034200.95703239
63Non-small cell lung cancer_Homo sapiens_hsa052230.94696022
64Circadian rhythm_Homo sapiens_hsa047100.94688920
65Estrogen signaling pathway_Homo sapiens_hsa049150.94657819
66Endometrial cancer_Homo sapiens_hsa052130.94588560
67Phosphatidylinositol signaling system_Homo sapiens_hsa040700.94424413
68Sphingolipid signaling pathway_Homo sapiens_hsa040710.93796064
69Homologous recombination_Homo sapiens_hsa034400.93696193
70Glutamatergic synapse_Homo sapiens_hsa047240.93621843
71ECM-receptor interaction_Homo sapiens_hsa045120.93466361
72Complement and coagulation cascades_Homo sapiens_hsa046100.90669551
73VEGF signaling pathway_Homo sapiens_hsa043700.90392451
74Tuberculosis_Homo sapiens_hsa051520.89956058
75Shigellosis_Homo sapiens_hsa051310.89841473
76T cell receptor signaling pathway_Homo sapiens_hsa046600.89762984
77Insulin resistance_Homo sapiens_hsa049310.89719421
78Long-term depression_Homo sapiens_hsa047300.88778340
79Insulin secretion_Homo sapiens_hsa049110.88335641
80Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.88306983
81Pertussis_Homo sapiens_hsa051330.86903398
82Salivary secretion_Homo sapiens_hsa049700.86886546
83Cholinergic synapse_Homo sapiens_hsa047250.85987570
84Platelet activation_Homo sapiens_hsa046110.85907460
85Fatty acid biosynthesis_Homo sapiens_hsa000610.85725816
86Dorso-ventral axis formation_Homo sapiens_hsa043200.85054413
87Regulation of actin cytoskeleton_Homo sapiens_hsa048100.84735974
88Inositol phosphate metabolism_Homo sapiens_hsa005620.84082524
89Calcium signaling pathway_Homo sapiens_hsa040200.84028293
90Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.83126756
91Hematopoietic cell lineage_Homo sapiens_hsa046400.82625995
92Phospholipase D signaling pathway_Homo sapiens_hsa040720.81602646
93Dilated cardiomyopathy_Homo sapiens_hsa054140.81496737
94Vibrio cholerae infection_Homo sapiens_hsa051100.80010082
95Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.79729642
96Endocytosis_Homo sapiens_hsa041440.79708437
97Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.79588773
98Neurotrophin signaling pathway_Homo sapiens_hsa047220.79477246
99Toxoplasmosis_Homo sapiens_hsa051450.79193689
100Adipocytokine signaling pathway_Homo sapiens_hsa049200.79063132
101Bile secretion_Homo sapiens_hsa049760.78647383
102Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.77488343
103Olfactory transduction_Homo sapiens_hsa047400.77091451
104GABAergic synapse_Homo sapiens_hsa047270.76380355
105Transcriptional misregulation in cancer_Homo sapiens_hsa052020.75855959
106Sphingolipid metabolism_Homo sapiens_hsa006000.75182752
107Influenza A_Homo sapiens_hsa051640.74536663
108Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.74519256
109Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.74209110
110Colorectal cancer_Homo sapiens_hsa052100.74088647
111Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.73635514
112cGMP-PKG signaling pathway_Homo sapiens_hsa040220.73287340
113Intestinal immune network for IgA production_Homo sapiens_hsa046720.72657319
114Pyrimidine metabolism_Homo sapiens_hsa002400.72582426
115Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.72514267
116Small cell lung cancer_Homo sapiens_hsa052220.72473628
117TNF signaling pathway_Homo sapiens_hsa046680.72344852
118Salmonella infection_Homo sapiens_hsa051320.70298210
119Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.69799300
120Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.69555166
121Dopaminergic synapse_Homo sapiens_hsa047280.69540217
122Glucagon signaling pathway_Homo sapiens_hsa049220.69276462
123NOD-like receptor signaling pathway_Homo sapiens_hsa046210.67836859
124Prostate cancer_Homo sapiens_hsa052150.67651094
125Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.67425103
126Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.65794400
127Pancreatic secretion_Homo sapiens_hsa049720.65111747
128Renin secretion_Homo sapiens_hsa049240.63456700
129Thyroid hormone synthesis_Homo sapiens_hsa049180.63406693
130Bladder cancer_Homo sapiens_hsa052190.63405164
131Pentose phosphate pathway_Homo sapiens_hsa000300.62861786
132Phagosome_Homo sapiens_hsa041450.61974823
133Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.61268593
134Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.60170667
135Allograft rejection_Homo sapiens_hsa053300.60143937
136AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.60056324
137cAMP signaling pathway_Homo sapiens_hsa040240.60050872
138Chemokine signaling pathway_Homo sapiens_hsa040620.60025556
139GnRH signaling pathway_Homo sapiens_hsa049120.59640633
140PPAR signaling pathway_Homo sapiens_hsa033200.59501810
141Fanconi anemia pathway_Homo sapiens_hsa034600.58827438
142Arginine biosynthesis_Homo sapiens_hsa002200.58522312
143FoxO signaling pathway_Homo sapiens_hsa040680.57678497
144Oxytocin signaling pathway_Homo sapiens_hsa049210.57387882
145Protein export_Homo sapiens_hsa030600.57155538
146Legionellosis_Homo sapiens_hsa051340.56732421
147Gap junction_Homo sapiens_hsa045400.56682479
148Apoptosis_Homo sapiens_hsa042100.55531933
149Choline metabolism in cancer_Homo sapiens_hsa052310.55395554
150Carbohydrate digestion and absorption_Homo sapiens_hsa049730.54991274
151Glycosaminoglycan degradation_Homo sapiens_hsa005310.53935491
152Purine metabolism_Homo sapiens_hsa002300.53640533
153Taste transduction_Homo sapiens_hsa047420.52294283
154HIF-1 signaling pathway_Homo sapiens_hsa040660.50837866
155RNA degradation_Homo sapiens_hsa030180.50609948
156Central carbon metabolism in cancer_Homo sapiens_hsa052300.50330058
157Prolactin signaling pathway_Homo sapiens_hsa049170.50319066
158African trypanosomiasis_Homo sapiens_hsa051430.49621119
159Gastric acid secretion_Homo sapiens_hsa049710.49280539
160Phototransduction_Homo sapiens_hsa047440.47139144

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