NEIL1

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 is a member of the Nei endonuclease VIII-like gene family which encodes DNA glycosylases. The encoded enzyme participates in the DNA repair pathway by initiating base excision repair by removing damaged bases, primarily oxidized pyrimidines. Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pyrimidine ribonucleoside catabolic process (GO:0046133)7.90821133
2somatic diversification of immune receptors via somatic mutation (GO:0002566)7.81731752
3somatic hypermutation of immunoglobulin genes (GO:0016446)7.81731752
4B cell receptor signaling pathway (GO:0050853)6.96712811
5antigen processing and presentation of endogenous antigen (GO:0019883)5.80958854
6regulation of B cell receptor signaling pathway (GO:0050855)5.60658807
7positive regulation of gamma-delta T cell activation (GO:0046645)5.50474999
8cilium or flagellum-dependent cell motility (GO:0001539)5.49307687
9negative regulation of gene silencing (GO:0060969)4.95908700
10cellular response to zinc ion (GO:0071294)4.89277667
11somatic diversification of immunoglobulins (GO:0016445)4.41323359
12regulation of B cell differentiation (GO:0045577)4.27796201
13regulation of chromatin silencing (GO:0031935)4.17454599
14positive regulation of protein kinase C signaling (GO:0090037)4.14946337
15positive regulation of B cell differentiation (GO:0045579)4.11012948
16axoneme assembly (GO:0035082)4.08641387
17regulation of gamma-delta T cell differentiation (GO:0045586)4.06663141
18epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.02415750
19somatic diversification of immune receptors (GO:0002200)3.98907581
20positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.94980255
21germinal center formation (GO:0002467)3.92575384
22regulation of antigen receptor-mediated signaling pathway (GO:0050854)3.89128368
23antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.88882339
24antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.88882339
25positive regulation of gene expression, epigenetic (GO:0045815)3.79365730
26regulation of gamma-delta T cell activation (GO:0046643)3.78618449
27detection of light stimulus involved in visual perception (GO:0050908)3.76846977
28detection of light stimulus involved in sensory perception (GO:0050962)3.76846977
29behavioral response to nicotine (GO:0035095)3.76425676
30axonemal dynein complex assembly (GO:0070286)3.75181069
31DNA demethylation (GO:0080111)3.70378708
32cellular response to ATP (GO:0071318)3.66439955
33B cell proliferation (GO:0042100)3.64779672
34cilium movement (GO:0003341)3.61291702
35somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.55701367
36isotype switching (GO:0045190)3.55701367
37somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.55701367
38somatic recombination of immunoglobulin gene segments (GO:0016447)3.51399992
39antigen receptor-mediated signaling pathway (GO:0050851)3.51307191
40positive regulation of protein homooligomerization (GO:0032464)3.50941523
41negative thymic T cell selection (GO:0045060)3.49685691
42negative T cell selection (GO:0043383)3.49456301
43regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.45970278
44mature B cell differentiation (GO:0002335)3.45835939
45telomere maintenance via semi-conservative replication (GO:0032201)3.45808923
46mast cell activation (GO:0045576)3.44226267
47epithelial cilium movement (GO:0003351)3.43965310
48purine deoxyribonucleotide catabolic process (GO:0009155)3.41202941
49ribosomal small subunit assembly (GO:0000028)3.40477304
50V(D)J recombination (GO:0033151)3.39989165
51immunoglobulin mediated immune response (GO:0016064)3.38893333
52regulation of B cell proliferation (GO:0030888)3.35223198
53somatic diversification of immune receptors via germline recombination within a single locus (GO:0003.34334500
54somatic cell DNA recombination (GO:0016444)3.34334500
55negative regulation of phagocytosis (GO:0050765)3.29136061
56B cell activation involved in immune response (GO:0002312)3.29050650
57B cell activation (GO:0042113)3.28059967
58Arp2/3 complex-mediated actin nucleation (GO:0034314)3.27597807
59positive thymic T cell selection (GO:0045059)3.25549461
60positive regulation of antigen processing and presentation (GO:0002579)3.24054501
61regulation of synapse structural plasticity (GO:0051823)3.23094899
62negative regulation of B cell apoptotic process (GO:0002903)3.21676012
63lymph node development (GO:0048535)3.21031008
64DNA strand elongation involved in DNA replication (GO:0006271)3.19670749
65lymphocyte homeostasis (GO:0002260)3.16443445
66regulation of germinal center formation (GO:0002634)3.13943113
67respiratory burst (GO:0045730)3.13669702
68regulation of dendritic cell antigen processing and presentation (GO:0002604)3.13437034
69B cell homeostasis (GO:0001782)3.12308648
70negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)3.12196609
71negative regulation of T cell differentiation in thymus (GO:0033085)3.11748240
72DNA dealkylation (GO:0035510)3.10375845
73regulation of T cell receptor signaling pathway (GO:0050856)3.10105545
74mature B cell differentiation involved in immune response (GO:0002313)3.09700141
75DNA strand elongation (GO:0022616)3.09137667
76positive regulation of B cell proliferation (GO:0030890)3.08966921
77positive regulation of defense response to virus by host (GO:0002230)3.04794916
78immune response-activating cell surface receptor signaling pathway (GO:0002429)3.04260483
79regulation of synapse maturation (GO:0090128)3.03159015
80leukocyte homeostasis (GO:0001776)3.02396872
81telomere maintenance via recombination (GO:0000722)3.01071631
82neurotransmitter catabolic process (GO:0042135)3.00589346
83positive regulation of CREB transcription factor activity (GO:0032793)3.00546660
84drug catabolic process (GO:0042737)3.00001816
85neutrophil activation involved in immune response (GO:0002283)2.99233814
86T cell homeostasis (GO:0043029)2.99019629
87neutrophil activation (GO:0042119)2.97109507
88regulation of B cell apoptotic process (GO:0002902)2.96696870
89B cell mediated immunity (GO:0019724)2.94090633
90phosphatidylglycerol biosynthetic process (GO:0006655)2.88240178
91regulation of cilium movement (GO:0003352)2.88128999
92B cell differentiation (GO:0030183)2.86508481
93NIK/NF-kappaB signaling (GO:0038061)2.86241733
94regulation of hydrogen peroxide metabolic process (GO:0010310)2.84010210
95positive regulation of B cell activation (GO:0050871)2.83469167
96T cell selection (GO:0045058)2.83061887
97defense response to protozoan (GO:0042832)2.81873219
98mitotic recombination (GO:0006312)2.80452409
99motile cilium assembly (GO:0044458)2.79936381
100nucleotide-excision repair, DNA gap filling (GO:0006297)2.79548327
101positive regulation of histone deacetylation (GO:0031065)2.78674404
102positive regulation of interleukin-2 production (GO:0032743)2.76834395
103regulation of alpha-beta T cell proliferation (GO:0046640)2.76705958
104deoxyribonucleotide catabolic process (GO:0009264)2.76187576
105regulation of superoxide anion generation (GO:0032928)2.75400926
106purinergic nucleotide receptor signaling pathway (GO:0035590)2.74641944
107regulation of B cell activation (GO:0050864)2.74555820
108regulation of antigen processing and presentation (GO:0002577)2.74039475
109granulocyte activation (GO:0036230)2.71915989
110positive regulation of immunoglobulin production (GO:0002639)2.71699104
111regulation of action potential (GO:0098900)2.67892464
112lymphocyte proliferation (GO:0046651)2.67693968
113regulation of interleukin-12 biosynthetic process (GO:0045075)2.67626471
114exogenous drug catabolic process (GO:0042738)2.66239888
115cellular response to interleukin-15 (GO:0071350)2.62876368
116signal peptide processing (GO:0006465)2.62747372
117mononuclear cell proliferation (GO:0032943)2.62703890
118thymic T cell selection (GO:0045061)2.61914222
119leukocyte aggregation (GO:0070486)2.61178406
120urinary tract smooth muscle contraction (GO:0014848)2.59997747
121positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.59558126
122transepithelial transport (GO:0070633)2.59474957
123adaptation of signaling pathway (GO:0023058)2.56851598
124positive regulation of action potential (GO:0045760)2.56046104
125positive T cell selection (GO:0043368)2.55568860
126negative regulation of T cell receptor signaling pathway (GO:0050860)2.55488976
127deoxyribose phosphate catabolic process (GO:0046386)2.55160060
128organic cation transport (GO:0015695)2.55021053
129cellular ketone body metabolic process (GO:0046950)2.52405012
130S-adenosylmethionine metabolic process (GO:0046500)2.51899112
131mannose metabolic process (GO:0006013)2.48322127
132L-fucose catabolic process (GO:0042355)2.44976520
133fucose catabolic process (GO:0019317)2.44976520
134L-fucose metabolic process (GO:0042354)2.44976520
135phosphatidylethanolamine biosynthetic process (GO:0006646)2.44539154
136phosphatidylcholine biosynthetic process (GO:0006656)2.44306826
137regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.44025684
138regulation of triglyceride catabolic process (GO:0010896)2.43894084
139tryptophan catabolic process (GO:0006569)2.43584136
140indole-containing compound catabolic process (GO:0042436)2.43584136
141indolalkylamine catabolic process (GO:0046218)2.43584136
142sulfate transmembrane transport (GO:1902358)2.43303986
143positive regulation of calcium-mediated signaling (GO:0050850)2.42470498
144activated T cell proliferation (GO:0050798)2.41921402
145interferon-gamma production (GO:0032609)2.37171561
146regulation of memory T cell differentiation (GO:0043380)2.36306069
147regulation of microtubule-based movement (GO:0060632)2.35254271
148phosphatidylethanolamine metabolic process (GO:0046337)2.35098405
149DNA deamination (GO:0045006)2.35074606
150synaptic vesicle docking involved in exocytosis (GO:0016081)2.32859881
151neuronal action potential (GO:0019228)2.31429670
152regulation of guanylate cyclase activity (GO:0031282)2.30488047
153cholesterol catabolic process (GO:0006707)2.30398612
154sterol catabolic process (GO:0016127)2.30398612
155indolalkylamine metabolic process (GO:0006586)2.29880549
156sperm motility (GO:0030317)2.26589022
157auditory receptor cell stereocilium organization (GO:0060088)2.26204650
158primary amino compound metabolic process (GO:1901160)2.25908528
159positive regulation of fatty acid oxidation (GO:0046321)2.25204170
160gamma-aminobutyric acid transport (GO:0015812)2.24848554
161snRNA transcription (GO:0009301)2.24836149
162long term synaptic depression (GO:0060292)2.24437607
163preassembly of GPI anchor in ER membrane (GO:0016254)2.23381282
164mucosal-associated lymphoid tissue development (GO:0048537)2.22867698
165Peyers patch development (GO:0048541)2.22867698
166neurotransmitter metabolic process (GO:0042133)2.22777137
167monoamine transport (GO:0015844)2.22611094
168sex determination (GO:0007530)2.22388435
169nephron tubule morphogenesis (GO:0072078)2.21514872
170nephron epithelium morphogenesis (GO:0072088)2.21514872
171neuronal action potential propagation (GO:0019227)2.21356660
172positive regulation of guanylate cyclase activity (GO:0031284)2.20980102
173alkaloid metabolic process (GO:0009820)2.19107731
174positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.16538739
175RNA destabilization (GO:0050779)2.16218708
176negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.16101738
177auditory behavior (GO:0031223)2.15708210
178regulation of histone deacetylation (GO:0031063)2.15360489
179arginine metabolic process (GO:0006525)2.14680960
180DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.14533036
181negative regulation of Rho protein signal transduction (GO:0035024)2.14524403
1823-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.14281581
183purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.14281581
184membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.14141129
185detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.13943972
186cytidine deamination (GO:0009972)10.0131047
187cytidine metabolic process (GO:0046087)10.0131047
188cytidine catabolic process (GO:0006216)10.0131047

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human5.65673173
2IRF8_22096565_ChIP-ChIP_GC-B_Human5.40834095
3IRF8_22096565_ChIP-ChIP_GC-B_Mouse4.60107571
4FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.59918488
5SPI1_22096565_ChIP-ChIP_GC-B_Mouse4.14491199
6IRF8_21731497_ChIP-ChIP_J774_Mouse3.58059652
7* MYC_22102868_ChIP-Seq_BL_Human3.52204220
8MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.92705319
9DROSHA_22980978_ChIP-Seq_HELA_Human2.89892455
10STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.68596277
11SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse2.64305103
12VDR_21846776_ChIP-Seq_THP-1_Human2.54638118
13EGR1_19374776_ChIP-ChIP_THP-1_Human2.53541089
14ELF1_17652178_ChIP-ChIP_JURKAT_Human2.51325310
15* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.48427453
16NOTCH1_17114293_ChIP-ChIP_T-ALL_Human2.48160428
17CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.41340951
18SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.40105485
19EZH2_22144423_ChIP-Seq_EOC_Human2.36486053
20* RUNX_20019798_ChIP-Seq_JUKART_Human2.31717631
21STAT4_19710469_ChIP-ChIP_TH1__Mouse2.31675882
22FLI1_20887958_ChIP-Seq_HPC-7_Mouse2.29348805
23KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.27575653
24MYB_26560356_Chip-Seq_TH2_Human2.24843596
25STAT6_21828071_ChIP-Seq_BEAS2B_Human2.15553348
26SPI1_23547873_ChIP-Seq_NB4_Human2.14303020
27* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.13893880
28IRF8_27001747_Chip-Seq_BMDM_Mouse2.11886444
29SCL_19346495_ChIP-Seq_HPC-7_Human2.07696083
30BCL6_27268052_Chip-Seq_Bcells_Human2.02927972
31CIITA_25753668_ChIP-Seq_RAJI_Human2.01615535
32P68_20966046_ChIP-Seq_HELA_Human1.98221008
33VDR_24763502_ChIP-Seq_THP-1_Human1.94228861
34MAF_26560356_Chip-Seq_TH1_Human1.93777174
35RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.93666243
36EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.90577930
37GABP_17652178_ChIP-ChIP_JURKAT_Human1.89801587
38EST1_17652178_ChIP-ChIP_JURKAT_Human1.88491084
39FOXP3_21729870_ChIP-Seq_TREG_Human1.87221178
40* MYB_26560356_Chip-Seq_TH1_Human1.84751364
41IKZF1_21737484_ChIP-ChIP_HCT116_Human1.84603369
42HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.83343244
43E2F1_20622854_ChIP-Seq_HELA_Human1.78985607
44ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.78745555
45BP1_19119308_ChIP-ChIP_Hs578T_Human1.76983581
46CTCF_27219007_Chip-Seq_Bcells_Human1.76775750
47EZH2_27294783_Chip-Seq_ESCs_Mouse1.76235191
48EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.75377568
49NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.75086276
50* UTX_26944678_Chip-Seq_JUKART_Human1.74082403
51HOXB4_20404135_ChIP-ChIP_EML_Mouse1.73817526
52BCOR_27268052_Chip-Seq_Bcells_Human1.72557285
53JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.72517989
54STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.72470999
55SUZ12_27294783_Chip-Seq_ESCs_Mouse1.71373077
56SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.70418240
57PHF8_20622854_ChIP-Seq_HELA_Human1.70313655
58TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.69584781
59VDR_23849224_ChIP-Seq_CD4+_Human1.69152782
60IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.68626820
61MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.68557214
62SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.67932084
63ERG_20887958_ChIP-Seq_HPC-7_Mouse1.67315846
64MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.66664101
65SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.63698713
66E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.62774831
67RUNX1_22412390_ChIP-Seq_EML_Mouse1.61105910
68EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.58163097
69FOXM1_23109430_ChIP-Seq_U2OS_Human1.57767056
70LXR_22292898_ChIP-Seq_THP-1_Human1.56325006
71REST_21632747_ChIP-Seq_MESCs_Mouse1.55404814
72E2F4_17652178_ChIP-ChIP_JURKAT_Human1.54416068
73ELF1_20517297_ChIP-Seq_JURKAT_Human1.53623143
74ZNF274_21170338_ChIP-Seq_K562_Hela1.53342207
75SRF_21415370_ChIP-Seq_HL-1_Mouse1.52756285
76ERA_21632823_ChIP-Seq_H3396_Human1.50986081
77NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.50370036
78PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.49134965
79CTCF_20526341_ChIP-Seq_ESCs_Human1.48512641
80LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.46524081
81MYB_21317192_ChIP-Seq_ERMYB_Mouse1.45814129
82* PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.45465788
83LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.44098757
84* EGR1_23403033_ChIP-Seq_LIVER_Mouse1.43223447
85JARID2_20075857_ChIP-Seq_MESCs_Mouse1.42699021
86GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.42523147
87PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.39693641
88* SMC4_20622854_ChIP-Seq_HELA_Human1.39050368
89NOTCH1_21737748_ChIP-Seq_TLL_Human1.36800024
90OCT4_19829295_ChIP-Seq_ESCs_Human1.36362822
91RARB_24833708_ChIP-Seq_LIVER_Mouse1.35598528
92* GATA2_22383799_ChIP-Seq_G1ME_Mouse1.35026385
93VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.34846025
94SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.34315965
95TAF2_19829295_ChIP-Seq_ESCs_Human1.33333350
96BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.33165170
97PU.1_20513432_ChIP-Seq_Bcells_Mouse1.32421601
98KDM2B_26808549_Chip-Seq_SUP-B15_Human1.32405972
99DNAJC2_21179169_ChIP-ChIP_NT2_Human1.31292320
100RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.30948043
101REST_18959480_ChIP-ChIP_MESCs_Mouse1.29454692
102TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.28992612
103ETS1_20019798_ChIP-Seq_JURKAT_Human1.28965516
104P300_27268052_Chip-Seq_Bcells_Human1.28543245
105FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.28483477
106* GATA1_22383799_ChIP-Seq_G1ME_Mouse1.28386930
107GATA3_27048872_Chip-Seq_THYMUS_Human1.28294930
108FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.27345334
109OCT4_20526341_ChIP-Seq_ESCs_Human1.26266456
110HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.25456175
111GATA3_21878914_ChIP-Seq_MCF-7_Human1.24270203
112FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.24150629
113* MAF_26560356_Chip-Seq_TH2_Human1.23944379
114MYC_19829295_ChIP-Seq_ESCs_Human1.23186313
115BRD4_27068464_Chip-Seq_AML-cells_Mouse1.20507672
116RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.20242045
117CREB1_15753290_ChIP-ChIP_HEK293T_Human1.20007930
118MYC_18358816_ChIP-ChIP_MESCs_Mouse1.16156228
119CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.15246916
120VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.14759437
121ELK1_19687146_ChIP-ChIP_HELA_Human1.13924442
122SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.12015367
123* EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.11969389
124* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.11872851
125* TP63_22573176_ChIP-Seq_HFKS_Human1.11755828
126SPI1_23127762_ChIP-Seq_K562_Human1.11725286
127MTF2_20144788_ChIP-Seq_MESCs_Mouse1.11129004
128BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.10989143
129* SA1_27219007_Chip-Seq_Bcells_Human1.10701597
130CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.10283743
131YY1_22570637_ChIP-Seq_MALME-3M_Human1.08069725
132TET1_21451524_ChIP-Seq_MESCs_Mouse1.06732726
133GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.06349689
134RAC3_21632823_ChIP-Seq_H3396_Human1.06333136
135RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human1.05842788
136P63_20808887_ChIP-Seq_KERATINOCYTES_Human1.05728566
137TCF7_22412390_ChIP-Seq_EML_Mouse1.05230839
138JARID2_20064375_ChIP-Seq_MESCs_Mouse1.04426980
139RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04153166
140GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.03885308
141* P53_21459846_ChIP-Seq_SAOS-2_Human1.03509865
142SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.03438221
143TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.03227931
144XRN2_22483619_ChIP-Seq_HELA_Human1.02328212
145* NANOG_20526341_ChIP-Seq_ESCs_Human1.01773195
146MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.01241732
147CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.01209901
148RNF2_27304074_Chip-Seq_ESCs_Mouse1.00606126
149VDR_22108803_ChIP-Seq_LS180_Human0.99858869
150SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.99846700
151CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.98910527
152RAD21_21589869_ChIP-Seq_MESCs_Mouse0.98830444
153THAP11_20581084_ChIP-Seq_MESCs_Mouse0.98254989
154KDM2B_26808549_Chip-Seq_DND41_Human0.97629617
155CREB1_26743006_Chip-Seq_LNCaP_Human0.96987068
156E2F1_21310950_ChIP-Seq_MCF-7_Human0.96845916
157GABP_19822575_ChIP-Seq_HepG2_Human0.95934199
158ETV2_25802403_ChIP-Seq_MESCs_Mouse0.95809842
159TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.95260773
160NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.94400383
161EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.94338991
162MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.94284147
163* SA1_27219007_Chip-Seq_ERYTHROID_Human0.94132253
164PU_27001747_Chip-Seq_BMDM_Mouse0.94114448
165* NCOR_22424771_ChIP-Seq_293T_Human0.93823206
166SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.93679555
167* CTCF_27219007_Chip-Seq_ERYTHROID_Human0.93516562
168MYC_19030024_ChIP-ChIP_MESCs_Mouse0.93133735
169TP53_22573176_ChIP-Seq_HFKS_Human0.92970224
170CTCF_21964334_ChIP-Seq_BJAB-B_Human0.92955674
171ERG_21242973_ChIP-ChIP_JURKAT_Human0.92219553
172RARA_24833708_ChIP-Seq_LIVER_Mouse0.91893131
173THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.91775029
174TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.91317260
175SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.90806909
176RXRA_24833708_ChIP-Seq_LIVER_Mouse0.90773683
177BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human0.90484864
178FOXH1_21741376_ChIP-Seq_ESCs_Human0.90424202
179YY1_21170310_ChIP-Seq_MESCs_Mouse0.90175813
180GATA3_26560356_Chip-Seq_TH2_Human0.89650441
181HOXB7_26014856_ChIP-Seq_BT474_Human0.89506807
182CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.89204676
183CTCF_26484167_Chip-Seq_Bcells_Mouse0.87202176
184DCP1A_22483619_ChIP-Seq_HELA_Human0.87196855
185* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.86184144

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001835_abnormal_antigen_presentation5.30680034
2MP0001800_abnormal_humoral_immune4.37238797
3MP0001790_abnormal_immune_system4.13406598
4MP0005387_immune_system_phenotype4.13406598
5MP0000685_abnormal_immune_system4.02564841
6MP0002452_abnormal_antigen_presenting3.52593045
7MP0005671_abnormal_response_to3.37018741
8MP0001968_abnormal_touch/_nociception3.26310343
9MP0002723_abnormal_immune_serum3.15913385
10MP0005000_abnormal_immune_tolerance3.15837407
11MP0002420_abnormal_adaptive_immunity3.07120651
12MP0003763_abnormal_thymus_physiology3.03094208
13MP0008875_abnormal_xenobiotic_pharmacok3.00148511
14MP0001819_abnormal_immune_cell2.99655187
15MP0002148_abnormal_hypersensitivity_rea2.98079370
16MP0002398_abnormal_bone_marrow2.85100976
17MP0009785_altered_susceptibility_to2.70060869
18MP0001502_abnormal_circadian_rhythm2.67605937
19MP0000716_abnormal_immune_system2.62746310
20MP0000689_abnormal_spleen_morphology2.49428117
21MP0005025_abnormal_response_to2.41591456
22MP0008057_abnormal_DNA_replication2.32785741
23MP0002736_abnormal_nociception_after2.31872563
24MP0010094_abnormal_chromosome_stability2.26617903
25MP0001853_heart_inflammation2.25126579
26MP0002429_abnormal_blood_cell2.19060185
27MP0002722_abnormal_immune_system2.18143324
28MP0008004_abnormal_stomach_pH2.17775053
29MP0002419_abnormal_innate_immunity2.14813389
30MP0005551_abnormal_eye_electrophysiolog2.06236306
31MP0002166_altered_tumor_susceptibility2.04787813
32MP0004043_abnormal_pH_regulation2.00258905
33MP0005646_abnormal_pituitary_gland1.96817283
34MP0005423_abnormal_somatic_nervous1.96601984
35MP0002735_abnormal_chemical_nociception1.83485471
36MP0005310_abnormal_salivary_gland1.82588684
37MP0002396_abnormal_hematopoietic_system1.80796138
38MP0002405_respiratory_system_inflammati1.78588338
39MP0009745_abnormal_behavioral_response1.77084087
40MP0003136_yellow_coat_color1.73508773
41MP0000703_abnormal_thymus_morphology1.73473888
42MP0008995_early_reproductive_senescence1.72842920
43MP0002653_abnormal_ependyma_morphology1.71829367
44MP0001501_abnormal_sleep_pattern1.71555551
45MP0008872_abnormal_physiological_respon1.68522877
46MP0003436_decreased_susceptibility_to1.68346877
47MP0001845_abnormal_inflammatory_respons1.67248164
48MP0000015_abnormal_ear_pigmentation1.63906822
49MP0005365_abnormal_bile_salt1.63904438
50MP0005167_abnormal_blood-brain_barrier1.63387545
51MP0009333_abnormal_splenocyte_physiolog1.61937063
52MP0001486_abnormal_startle_reflex1.61301810
53MP0001986_abnormal_taste_sensitivity1.59341431
54MP0003283_abnormal_digestive_organ1.56170298
55MP0002822_catalepsy1.53692171
56MP0001873_stomach_inflammation1.52207884
57MP0002064_seizures1.51926267
58MP0002006_tumorigenesis1.51765833
59MP0010155_abnormal_intestine_physiology1.48447310
60MP0003303_peritoneal_inflammation1.46087782
61MP0003635_abnormal_synaptic_transmissio1.45198345
62MP0008058_abnormal_DNA_repair1.43897125
63MP0002572_abnormal_emotion/affect_behav1.42372623
64MP0004510_myositis1.41338937
65MP0003866_abnormal_defecation1.39618334
66MP0010329_abnormal_lipoprotein_level1.38390873
67MP0002876_abnormal_thyroid_physiology1.37280370
68MP0001970_abnormal_pain_threshold1.37091394
69MP0000538_abnormal_urinary_bladder1.35901554
70MP0002063_abnormal_learning/memory/cond1.35637403
71MP0002272_abnormal_nervous_system1.34695634
72MP0003077_abnormal_cell_cycle1.32475514
73MP0006082_CNS_inflammation1.32366819
74MP0004947_skin_inflammation1.31094264
75MP0005332_abnormal_amino_acid1.30648433
76MP0002733_abnormal_thermal_nociception1.30135980
77MP0004019_abnormal_vitamin_homeostasis1.29671671
78MP0005360_urolithiasis1.27835760
79MP0004742_abnormal_vestibular_system1.25989523
80MP0003693_abnormal_embryo_hatching1.25542944
81MP0003787_abnormal_imprinting1.24465212
82MP0003879_abnormal_hair_cell1.23845031
83* MP0002019_abnormal_tumor_incidence1.22499853
84MP0003880_abnormal_central_pattern1.21949536
85MP0005464_abnormal_platelet_physiology1.19198170
86MP0001756_abnormal_urination1.17259715
87MP0008961_abnormal_basal_metabolism1.16210048
88MP0001348_abnormal_lacrimal_gland1.16079858
89MP0003172_abnormal_lysosome_physiology1.15452826
90MP0005174_abnormal_tail_pigmentation1.15049064
91MP0001765_abnormal_ion_homeostasis1.14928175
92MP0005377_hearing/vestibular/ear_phenot1.12973243
93MP0003878_abnormal_ear_physiology1.12973243
94MP0005670_abnormal_white_adipose1.12944097
95MP0004130_abnormal_muscle_cell1.12850555
96MP0005645_abnormal_hypothalamus_physiol1.11918310
97MP0002095_abnormal_skin_pigmentation1.10607646
98MP0002132_abnormal_respiratory_system1.09984020
99MP0009046_muscle_twitch1.08726394
100MP0003011_delayed_dark_adaptation1.08496223
101MP0008469_abnormal_protein_level1.08132227
102MP0004885_abnormal_endolymph1.07727698
103MP0002138_abnormal_hepatobiliary_system1.05832188
104MP0004859_abnormal_synaptic_plasticity1.05500970
105MP0004808_abnormal_hematopoietic_stem1.04749892
106MP0003300_gastrointestinal_ulcer1.03165320
107MP0005075_abnormal_melanosome_morpholog1.02483202
108MP0000490_abnormal_crypts_of1.02357492
109MP0005085_abnormal_gallbladder_physiolo1.02253919
110MP0008007_abnormal_cellular_replicative1.02253558
111MP0002928_abnormal_bile_duct1.01141946
112MP0003724_increased_susceptibility_to1.00726148
113MP0003111_abnormal_nucleus_morphology0.99332608
114* MP0002933_joint_inflammation0.98877846
115MP0000465_gastrointestinal_hemorrhage0.98591603
116MP0002557_abnormal_social/conspecific_i0.98422720
117MP0010386_abnormal_urinary_bladder0.98151005
118MP0001764_abnormal_homeostasis0.97851717
119MP0001944_abnormal_pancreas_morphology0.97545354
120MP0001485_abnormal_pinna_reflex0.97212970
121MP0003045_fibrosis0.96452964
122MP0005386_behavior/neurological_phenoty0.95971415
123MP0004924_abnormal_behavior0.95971415
124MP0002067_abnormal_sensory_capabilities0.94583336
125MP0004381_abnormal_hair_follicle0.93096659
126MP0005535_abnormal_body_temperature0.89121588
127MP0005397_hematopoietic_system_phenotyp0.89094884
128MP0001545_abnormal_hematopoietic_system0.89094884
129MP0005448_abnormal_energy_balance0.87420395
130MP0001664_abnormal_digestion0.86786636
131MP0005253_abnormal_eye_physiology0.84214914
132MP0005083_abnormal_biliary_tract0.83450193
133* MP0000003_abnormal_adipose_tissue0.83305845
134MP0002136_abnormal_kidney_physiology0.81274746
135MP0010234_abnormal_vibrissa_follicle0.80211007
136MP0000470_abnormal_stomach_morphology0.79277756
137MP0006054_spinal_hemorrhage0.75816700
138MP0005410_abnormal_fertilization0.75721042
139MP0005584_abnormal_enzyme/coenzyme_acti0.75521087
140MP0000858_altered_metastatic_potential0.74497218
141MP0009278_abnormal_bone_marrow0.74390023
142MP0006036_abnormal_mitochondrial_physio0.73842285
143MP0002909_abnormal_adrenal_gland0.72669559
144MP0001879_abnormal_lymphatic_vessel0.72627170
145MP0005379_endocrine/exocrine_gland_phen0.71799870
146MP0009697_abnormal_copulation0.71197440
147MP0005171_absent_coat_pigmentation0.71008023
148MP0001905_abnormal_dopamine_level0.70894540
149MP0001963_abnormal_hearing_physiology0.70143208
150MP0004957_abnormal_blastocyst_morpholog0.69224680
151MP0003183_abnormal_peptide_metabolism0.69072317
152MP0003191_abnormal_cellular_cholesterol0.68558730
153MP0009765_abnormal_xenobiotic_induced0.67399963
154MP0001191_abnormal_skin_condition0.65779388
155MP0000313_abnormal_cell_death0.65320048
156MP0003943_abnormal_hepatobiliary_system0.65200242
157MP0000681_abnormal_thyroid_gland0.63101898
158MP0003195_calcinosis0.61371971
159MP0002693_abnormal_pancreas_physiology0.60694514
160MP0003186_abnormal_redox_activity0.59973827
161MP0009763_increased_sensitivity_to0.59948620
162MP0002083_premature_death0.58509199
163MP0002163_abnormal_gland_morphology0.58214947
164MP0009764_decreased_sensitivity_to0.58004715
165MP0003786_premature_aging0.54597228
166MP0009643_abnormal_urine_homeostasis0.54464615
167MP0003828_pulmonary_edema0.54377921
168MP0009379_abnormal_foot_pigmentation0.53217322
169MP0008877_abnormal_DNA_methylation0.52094092
170MP0000920_abnormal_myelination0.48398536
171MP0001984_abnormal_olfaction0.47883608
172MP0002638_abnormal_pupillary_reflex0.46416335
173MP0001533_abnormal_skeleton_physiology0.45346703

Predicted human phenotypes

RankGene SetZ-score
1Agammaglobulinemia (HP:0004432)8.34117402
2Gastrointestinal stroma tumor (HP:0100723)6.07982392
3Cellulitis (HP:0100658)5.85111288
4Recurrent bronchitis (HP:0002837)5.47517876
5Panhypogammaglobulinemia (HP:0003139)4.90847025
6Recurrent viral infections (HP:0004429)4.89230085
7B lymphocytopenia (HP:0010976)4.88771439
8Abnormality of B cell number (HP:0010975)4.88771439
9Recurrent sinusitis (HP:0011108)4.79206570
10Recurrent lower respiratory tract infections (HP:0002783)4.73647713
11Meningitis (HP:0001287)4.68818431
12Recurrent pneumonia (HP:0006532)4.62250750
13Colitis (HP:0002583)4.61350021
14IgG deficiency (HP:0004315)4.53763448
15Abnormal delayed hypersensitivity skin test (HP:0002963)4.52703548
16Verrucae (HP:0200043)4.39225768
17Papilloma (HP:0012740)4.39225768
18Chronic sinusitis (HP:0011109)4.34099976
19Inflammation of the large intestine (HP:0002037)4.22919240
20IgA deficiency (HP:0002720)4.21095462
21Thyroiditis (HP:0100646)4.19129572
22Gastrointestinal inflammation (HP:0004386)4.10398996
23Lymphopenia (HP:0001888)4.09156904
24Abnormality of cells of the lymphoid lineage (HP:0012140)4.04306941
25Dynein arm defect of respiratory motile cilia (HP:0012255)4.02130002
26Absent/shortened dynein arms (HP:0200106)4.02130002
27Abnormal respiratory epithelium morphology (HP:0012253)3.93260877
28Abnormal respiratory motile cilium morphology (HP:0005938)3.93260877
29Osteomyelitis (HP:0002754)3.92164638
30Abnormality of T cell number (HP:0011839)3.89019346
31IgM deficiency (HP:0002850)3.80081591
32Recurrent abscess formation (HP:0002722)3.77972991
33Recurrent fungal infections (HP:0002841)3.74999946
34Congenital stationary night blindness (HP:0007642)3.69172009
35Autoimmune thrombocytopenia (HP:0001973)3.68553852
36Eczematoid dermatitis (HP:0000976)3.62716831
37T lymphocytopenia (HP:0005403)3.61163041
38Emphysema (HP:0002097)3.60303316
39Recurrent bacterial skin infections (HP:0005406)3.59944150
40Attenuation of retinal blood vessels (HP:0007843)3.52312093
41Vasculitis (HP:0002633)3.50383624
42Sepsis (HP:0100806)3.44411329
43Chronic otitis media (HP:0000389)3.42568287
44Decreased circulating renin level (HP:0003351)3.42299674
45Abnormality of T cells (HP:0002843)3.34861972
46Chronic hepatic failure (HP:0100626)3.34463683
47Abnormal ciliary motility (HP:0012262)3.26208456
48Severe combined immunodeficiency (HP:0004430)3.21597764
49Mediastinal lymphadenopathy (HP:0100721)3.13051318
50Abnormality of T cell physiology (HP:0011840)3.10451093
51Neutropenia (HP:0001875)3.07955828
52Abnormality of midbrain morphology (HP:0002418)3.05895716
53Molar tooth sign on MRI (HP:0002419)3.05895716
54Combined immunodeficiency (HP:0005387)3.05880231
55Abnormality of the renal cortex (HP:0011035)3.01433924
56Stomatitis (HP:0010280)3.00443041
57Chronic mucocutaneous candidiasis (HP:0002728)2.99547816
58Recurrent cutaneous fungal infections (HP:0011370)2.99547816
59Polydipsia (HP:0001959)2.98612330
60Abnormal drinking behavior (HP:0030082)2.98612330
61Bronchitis (HP:0012387)2.96570818
62Recurrent skin infections (HP:0001581)2.93334592
63Abnormal respiratory motile cilium physiology (HP:0012261)2.89988108
64Nephronophthisis (HP:0000090)2.89372385
65Pancreatic cysts (HP:0001737)2.88056427
66Restrictive lung disease (HP:0002091)2.87903403
67Elevated erythrocyte sedimentation rate (HP:0003565)2.86874080
68Abnormality of the renal medulla (HP:0100957)2.86852394
69Abnormal albumin level (HP:0012116)2.86568229
70Hypoalbuminemia (HP:0003073)2.86568229
71Testicular atrophy (HP:0000029)2.82500393
72Lymphoma (HP:0002665)2.82408827
73Recurrent otitis media (HP:0000403)2.81864700
74Eosinophilia (HP:0001880)2.81536487
75Respiratory insufficiency due to defective ciliary clearance (HP:0200073)2.76991574
76Skin rash (HP:0000988)2.71113450
77Decreased central vision (HP:0007663)2.70115273
78Granulocytopenia (HP:0001913)2.69812705
79Rib fusion (HP:0000902)2.65554972
80Absent speech (HP:0001344)2.63833844
81Nasal polyposis (HP:0100582)2.61567317
82Leukopenia (HP:0001882)2.61085453
83Hypoplasia of the thymus (HP:0000778)2.60725890
84Abnormality of eosinophils (HP:0001879)2.56186202
85Polyuria (HP:0000103)2.56127711
86Chronic obstructive pulmonary disease (HP:0006510)2.52158720
87Obstructive lung disease (HP:0006536)2.52158720
88Mesangial abnormality (HP:0001966)2.51837953
89Pancreatic fibrosis (HP:0100732)2.51467794
90True hermaphroditism (HP:0010459)2.48685218
91Small epiphyses (HP:0010585)2.48066866
92Progressive cerebellar ataxia (HP:0002073)2.47788348
93Rhinitis (HP:0012384)2.44743685
94Abnormality of the fingertips (HP:0001211)2.44007521
95Tubular atrophy (HP:0000092)2.43859494
96Encephalitis (HP:0002383)2.43809989
97Bronchiectasis (HP:0002110)2.43302005
98Cystic liver disease (HP:0006706)2.42263154
99Generalized hypopigmentation of hair (HP:0011358)2.41075949
100Limb hypertonia (HP:0002509)2.40990187
101Recurrent gram-negative bacterial infections (HP:0005420)2.37967146
102Stomach cancer (HP:0012126)2.35315850
103Abnormal urine output (HP:0012590)2.33552958
104Autoimmune hemolytic anemia (HP:0001890)2.29201430
105Annular pancreas (HP:0001734)2.26855925
106Abnormality of the nasal mucosa (HP:0000433)2.22800176
107Thrombocytosis (HP:0001894)2.22410847
108Bony spicule pigmentary retinopathy (HP:0007737)2.20741686
109Abnormality of macrophages (HP:0004311)2.20586116
110Petechiae (HP:0000967)2.15597202
1113-Methylglutaconic aciduria (HP:0003535)2.14065960
112Spontaneous hematomas (HP:0007420)2.14038459
113Genetic anticipation (HP:0003743)2.12628048
114Abnormality of renin-angiotensin system (HP:0000847)2.12275811
115Abnormality of renal excretion (HP:0011036)2.11501366
116Renal cortical cysts (HP:0000803)2.09287612
117Hyperventilation (HP:0002883)2.09175840
118Villous atrophy (HP:0011473)2.06893850
119Abnormality of small intestinal villus morphology (HP:0011472)2.06893850
120Decreased electroretinogram (ERG) amplitude (HP:0000654)2.06428649
121Delayed CNS myelination (HP:0002188)2.04989124
122Congenital sensorineural hearing impairment (HP:0008527)2.04936899
123Patellar aplasia (HP:0006443)2.03872982
124Leukocytosis (HP:0001974)1.99678441
125Aplasia/Hypoplasia of the thymus (HP:0010515)1.98443311
126Aplasia/Hypoplasia of the patella (HP:0006498)1.95159816
127Pulmonary infiltrates (HP:0002113)1.93478628
128Metabolic alkalosis (HP:0200114)1.93093452
129Vertebral arch anomaly (HP:0008438)1.91896217
130Intellectual disability, severe (HP:0010864)1.91841996
131Abnormal rod and cone electroretinograms (HP:0008323)1.89957447
132Interstitial pulmonary disease (HP:0006530)1.89325281
133Prolonged QT interval (HP:0001657)1.88888697
134Hypoplasia of the capital femoral epiphysis (HP:0003090)1.88294675
135Urticaria (HP:0001025)1.88100882
136Occipital encephalocele (HP:0002085)1.86973330
137Skin ulcer (HP:0200042)1.84625116
138Congenital hepatic fibrosis (HP:0002612)1.83658647
139Anterior segment dysgenesis (HP:0007700)1.81946486
140Mitral stenosis (HP:0001718)1.81767233
141Increased IgM level (HP:0003496)1.79773690
142Male pseudohermaphroditism (HP:0000037)1.79643558
143Type II lissencephaly (HP:0007260)1.79633636
144Chronic diarrhea (HP:0002028)1.79200295
145Abnormal biliary tract physiology (HP:0012439)1.78729137
146Bile duct proliferation (HP:0001408)1.78729137
147Clumsiness (HP:0002312)1.78490013
148Infertility (HP:0000789)1.78440464
149Medial flaring of the eyebrow (HP:0010747)1.78335673
150Reduced antithrombin III activity (HP:0001976)1.76932752
151Type I transferrin isoform profile (HP:0003642)1.76413897
152Hyperaldosteronism (HP:0000859)1.76298862
153Febrile seizures (HP:0002373)1.75352488
154Slow saccadic eye movements (HP:0000514)1.74013251
155Thin bony cortex (HP:0002753)1.73474359
156Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.73147687
157Ocular albinism (HP:0001107)1.71502602
158Abnormal protein glycosylation (HP:0012346)1.71442851
159Abnormal glycosylation (HP:0012345)1.71442851
160Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.71442851
161Abnormal protein N-linked glycosylation (HP:0012347)1.71442851
162Hypergammaglobulinemia (HP:0010702)1.71349956
163Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.71075232
164Gaze-evoked nystagmus (HP:0000640)1.70945585
165Flat capital femoral epiphysis (HP:0003370)1.70211099
166Reticulocytopenia (HP:0001896)1.69543540
167Aplasia/Hypoplasia of the spleen (HP:0010451)1.69432769
168Papilledema (HP:0001085)1.69124280
169Severe muscular hypotonia (HP:0006829)1.68204831
170Optic disc pallor (HP:0000543)1.68134343
171Hypokalemic alkalosis (HP:0001949)1.64034018
172Focal seizures (HP:0007359)1.62307444
173Ketosis (HP:0001946)1.62239764
174Ketoacidosis (HP:0001993)1.62211635
175Gingivitis (HP:0000230)1.60765043
176Entropion (HP:0000621)1.60095979
177Abnormality of the intervertebral disk (HP:0005108)1.59226114
17811 pairs of ribs (HP:0000878)1.57148500
179Increased IgE level (HP:0003212)1.54113973
180Pancytopenia (HP:0001876)1.53908138
181Irregular vertebral endplates (HP:0003301)1.53867769
182Barrel-shaped chest (HP:0001552)1.53477711
183Arthralgia (HP:0002829)1.52789874

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP4K15.78832611
2BLK3.70234983
3FRK3.27383008
4ZAK3.00159255
5SYK2.98141928
6MAP3K102.85263289
7CASK2.84847616
8MAP3K142.65415436
9GRK62.55905283
10BTK2.54874414
11DAPK22.47431314
12TNK22.43371468
13WNK42.39653515
14CSF1R2.29613971
15TXK2.06301746
16IKBKE2.01014171
17NLK2.00612781
18TEC2.00489076
19ERN11.96031338
20LYN1.95700226
21KIT1.92972633
22TBK11.86097286
23BUB11.84357838
24STK161.82175328
25IRAK41.81733119
26ITK1.77076440
27IRAK31.76070174
28CLK11.74504473
29MST41.74448109
30MAP2K61.73864617
31PRKCH1.69575171
32ADRBK21.69365030
33NME21.63894356
34IKBKB1.61611038
35PRKCI1.60194743
36MAP3K131.57799328
37PRKCQ1.53726220
38NTRK31.50428386
39EIF2AK31.48834976
40ZAP701.47838086
41CAMKK11.40186084
42PHKG21.39354362
43PHKG11.39354362
44MAPK131.36502462
45RIPK41.26057688
46STK101.24577207
47PINK11.22611027
48MAP3K71.19815655
49TYK21.18956672
50LCK1.15004102
51MAP4K21.14794404
52CCNB11.14320495
53ACVR1B1.09447696
54INSRR1.08050044
55PTK2B1.07259084
56CAMKK21.06787475
57PRKD21.02877109
58JAK30.98374173
59RPS6KA40.98128885
60HCK0.98114427
61FLT30.97727406
62PIM10.95405641
63FES0.94750468
64VRK10.94031214
65PAK30.93595084
66TNIK0.92969980
67PIM20.91906876
68FGFR20.91115108
69CSK0.90262698
70EPHA40.90067100
71MARK20.87315994
72SIK30.86823729
73STK40.86737345
74ARAF0.86407895
75PRKAA10.85082625
76ADRBK10.84493554
77LRRK20.84266955
78MUSK0.83972566
79TLK10.80855366
80CAMK10.77662099
81PRKAA20.76458223
82WNK30.75541410
83GRK10.75056564
84CDC70.72833716
85MARK30.71342487
86MAPK120.69998538
87STK110.68394705
88YES10.67960175
89CHUK0.67416867
90PASK0.67348398
91MAPK40.66497015
92NTRK20.66279588
93PDK10.66215827
94PBK0.64570570
95PRKD30.64527249
96TESK20.62536633
97MAP3K110.60089918
98ERBB20.59998537
99PIK3CG0.58673197
100PRKCD0.57719562
101MAPKAPK30.57682686
102PDPK10.56769211
103MAP2K40.55374839
104SIK10.55001050
105CSNK1G10.54832718
106EIF2AK20.54735808
107CSNK1G30.54598461
108CDK40.54197512
109MELK0.53860903
110PRKD10.53675222
111SGK2230.52601806
112SGK4940.52601806
113SIK20.51767233
114TRIB30.51665032
115PRKCZ0.50850629
116RPS6KA50.50534961
117BCR0.49930638
118DYRK30.48333229
119MAPK70.45533066
120BCKDK0.45079140
121MARK10.44850017
122TAOK30.44527499
123NEK60.44103653
124WNK10.43728871
125CDK50.42956267
126RPS6KA20.42789837
127NEK20.42087316
128OXSR10.42043569
129ATR0.41491092
130TSSK60.41277837
131RPS6KL10.40681682
132RPS6KC10.40681682
133MAPK80.40501798
134HIPK20.40483255
135PKN10.38921851
136CSNK1A1L0.38781199
137TIE10.38760816
138BMPR1B0.38748605
139MAP3K40.38688591
140MAP2K30.38555621
141FGFR40.37230247
142JAK10.35776102
143PRPF4B0.35649169
144ABL10.35477571
145IRAK20.35222706
146MATK0.33728246
147IRAK10.32097198
148BRSK20.31489269
149RPS6KA60.31390718
150MAPK150.31260430
151RPS6KB20.30483143
152FYN0.30423030
153BRSK10.29492712
154MAPK110.29215710
155INSR0.28259608
156MAPKAPK20.27981914
157KDR0.26714745

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053406.80553042
2B cell receptor signaling pathway_Homo sapiens_hsa046624.00179014
3Intestinal immune network for IgA production_Homo sapiens_hsa046723.68570904
4DNA replication_Homo sapiens_hsa030303.34007319
5Mismatch repair_Homo sapiens_hsa034303.25335148
6* Base excision repair_Homo sapiens_hsa034103.08490133
7Non-homologous end-joining_Homo sapiens_hsa034502.92586772
8NF-kappa B signaling pathway_Homo sapiens_hsa040642.82325269
9Homologous recombination_Homo sapiens_hsa034402.37693870
10Linoleic acid metabolism_Homo sapiens_hsa005912.16251205
11Protein export_Homo sapiens_hsa030602.15017700
12Hematopoietic cell lineage_Homo sapiens_hsa046402.04834940
13Antigen processing and presentation_Homo sapiens_hsa046122.03893017
14Nicotine addiction_Homo sapiens_hsa050332.02265178
15Ribosome_Homo sapiens_hsa030102.00503315
16Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.98056496
17alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.94079815
18Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.88603830
19Caffeine metabolism_Homo sapiens_hsa002321.70766369
20Proteasome_Homo sapiens_hsa030501.70084975
21Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.69988152
22Asthma_Homo sapiens_hsa053101.68944217
23Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.62778004
24Nucleotide excision repair_Homo sapiens_hsa034201.60541116
25RNA polymerase_Homo sapiens_hsa030201.59311314
26Osteoclast differentiation_Homo sapiens_hsa043801.58277584
27Allograft rejection_Homo sapiens_hsa053301.54581307
28Phototransduction_Homo sapiens_hsa047441.53788014
29Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.49577481
30Fanconi anemia pathway_Homo sapiens_hsa034601.48463199
31Leishmaniasis_Homo sapiens_hsa051401.46266316
32Measles_Homo sapiens_hsa051621.44161278
33Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.42617743
34Chemical carcinogenesis_Homo sapiens_hsa052041.41782990
35Pyrimidine metabolism_Homo sapiens_hsa002401.41381318
36Taste transduction_Homo sapiens_hsa047421.40004674
37Histidine metabolism_Homo sapiens_hsa003401.39704528
38Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.36336633
39Insulin secretion_Homo sapiens_hsa049111.31839852
40Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.30256688
41Cyanoamino acid metabolism_Homo sapiens_hsa004601.30061152
42T cell receptor signaling pathway_Homo sapiens_hsa046601.29881406
43Herpes simplex infection_Homo sapiens_hsa051681.27976979
44Morphine addiction_Homo sapiens_hsa050321.25701996
45Carbohydrate digestion and absorption_Homo sapiens_hsa049731.25069763
46RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.24289165
47Graft-versus-host disease_Homo sapiens_hsa053321.19373981
48Ovarian steroidogenesis_Homo sapiens_hsa049131.19057140
49Spliceosome_Homo sapiens_hsa030401.19047332
50Ether lipid metabolism_Homo sapiens_hsa005651.18250102
51Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.16808121
52Glutamatergic synapse_Homo sapiens_hsa047241.15922805
53Steroid hormone biosynthesis_Homo sapiens_hsa001401.12761613
54Aldosterone synthesis and secretion_Homo sapiens_hsa049251.12424516
55Glycerolipid metabolism_Homo sapiens_hsa005611.11813211
56Circadian entrainment_Homo sapiens_hsa047131.10715722
57Calcium signaling pathway_Homo sapiens_hsa040201.10017726
58Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.08884810
59Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.08500834
60Amphetamine addiction_Homo sapiens_hsa050311.05387205
61Butanoate metabolism_Homo sapiens_hsa006501.01857961
62Staphylococcus aureus infection_Homo sapiens_hsa051501.01414243
63Glycerophospholipid metabolism_Homo sapiens_hsa005641.00758374
64Nitrogen metabolism_Homo sapiens_hsa009101.00571967
65Epstein-Barr virus infection_Homo sapiens_hsa051691.00105997
66Autoimmune thyroid disease_Homo sapiens_hsa053200.98890163
67Regulation of autophagy_Homo sapiens_hsa041400.98856313
68Circadian rhythm_Homo sapiens_hsa047100.97610733
69Retinol metabolism_Homo sapiens_hsa008300.96892670
70Serotonergic synapse_Homo sapiens_hsa047260.96090288
71Collecting duct acid secretion_Homo sapiens_hsa049660.95275056
72Shigellosis_Homo sapiens_hsa051310.94340398
73Other glycan degradation_Homo sapiens_hsa005110.91570958
74Jak-STAT signaling pathway_Homo sapiens_hsa046300.89887003
75Salivary secretion_Homo sapiens_hsa049700.88143105
76Cocaine addiction_Homo sapiens_hsa050300.88092364
77Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.86925998
78Type I diabetes mellitus_Homo sapiens_hsa049400.86449432
79Toll-like receptor signaling pathway_Homo sapiens_hsa046200.85611331
80GABAergic synapse_Homo sapiens_hsa047270.85432928
81Leukocyte transendothelial migration_Homo sapiens_hsa046700.84834463
82Tuberculosis_Homo sapiens_hsa051520.82868412
83Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.82739989
84Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.82546031
85Apoptosis_Homo sapiens_hsa042100.80295754
86Bile secretion_Homo sapiens_hsa049760.79363173
87Dorso-ventral axis formation_Homo sapiens_hsa043200.78985174
88Cell cycle_Homo sapiens_hsa041100.77417523
89Arachidonic acid metabolism_Homo sapiens_hsa005900.75382051
90Tryptophan metabolism_Homo sapiens_hsa003800.74992915
91Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.73828915
92Olfactory transduction_Homo sapiens_hsa047400.73255864
93Chemokine signaling pathway_Homo sapiens_hsa040620.73090988
94Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.72776465
95Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.72770025
96Influenza A_Homo sapiens_hsa051640.72756821
97Cholinergic synapse_Homo sapiens_hsa047250.72503145
98Dopaminergic synapse_Homo sapiens_hsa047280.72147247
99Arginine biosynthesis_Homo sapiens_hsa002200.72030278
100Mineral absorption_Homo sapiens_hsa049780.71964276
101Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.71911747
102SNARE interactions in vesicular transport_Homo sapiens_hsa041300.71534848
103RNA degradation_Homo sapiens_hsa030180.69819392
104cAMP signaling pathway_Homo sapiens_hsa040240.68993782
105NOD-like receptor signaling pathway_Homo sapiens_hsa046210.68766653
106Viral myocarditis_Homo sapiens_hsa054160.67757724
107Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.67271040
108HTLV-I infection_Homo sapiens_hsa051660.65607467
109Vascular smooth muscle contraction_Homo sapiens_hsa042700.65333096
110Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.65283377
111p53 signaling pathway_Homo sapiens_hsa041150.65110385
112Gastric acid secretion_Homo sapiens_hsa049710.64316776
113Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.64007956
114Transcriptional misregulation in cancer_Homo sapiens_hsa052020.63735360
115Hepatitis B_Homo sapiens_hsa051610.62670291
116PPAR signaling pathway_Homo sapiens_hsa033200.62519024
117Synaptic vesicle cycle_Homo sapiens_hsa047210.62327614
118Oxytocin signaling pathway_Homo sapiens_hsa049210.61220954
119Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.60055140
120Purine metabolism_Homo sapiens_hsa002300.59172915
121Legionellosis_Homo sapiens_hsa051340.59088396
122Type II diabetes mellitus_Homo sapiens_hsa049300.58938311
123Fatty acid degradation_Homo sapiens_hsa000710.58230693
124Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.58162484
125Vitamin digestion and absorption_Homo sapiens_hsa049770.57720387
126Fat digestion and absorption_Homo sapiens_hsa049750.57706554
127beta-Alanine metabolism_Homo sapiens_hsa004100.57488138
128Acute myeloid leukemia_Homo sapiens_hsa052210.57441804
129Phosphatidylinositol signaling system_Homo sapiens_hsa040700.55929440
130Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.52829947
131Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.52508479
132Rheumatoid arthritis_Homo sapiens_hsa053230.51092850
133Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.50238288
134N-Glycan biosynthesis_Homo sapiens_hsa005100.49451096
135Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.48597057
136Pertussis_Homo sapiens_hsa051330.48586969
137Insulin resistance_Homo sapiens_hsa049310.47953124
138Phenylalanine metabolism_Homo sapiens_hsa003600.47708951
139Inositol phosphate metabolism_Homo sapiens_hsa005620.46344330
140Primary bile acid biosynthesis_Homo sapiens_hsa001200.46242556
141Systemic lupus erythematosus_Homo sapiens_hsa053220.46086656
142Renin secretion_Homo sapiens_hsa049240.44604750
143Glycosaminoglycan degradation_Homo sapiens_hsa005310.44576842
144Viral carcinogenesis_Homo sapiens_hsa052030.44107774
145Sphingolipid metabolism_Homo sapiens_hsa006000.42305587
146Platelet activation_Homo sapiens_hsa046110.42149024
147Pentose phosphate pathway_Homo sapiens_hsa000300.40960192
148African trypanosomiasis_Homo sapiens_hsa051430.40649712
149Malaria_Homo sapiens_hsa051440.40389965
150Salmonella infection_Homo sapiens_hsa051320.38470952
151Toxoplasmosis_Homo sapiens_hsa051450.37707345
152Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.31703367
153TNF signaling pathway_Homo sapiens_hsa046680.31401155
154One carbon pool by folate_Homo sapiens_hsa006700.30434155
155Chronic myeloid leukemia_Homo sapiens_hsa052200.29556715
156Hepatitis C_Homo sapiens_hsa051600.27910865
157Folate biosynthesis_Homo sapiens_hsa007900.27452042
158Basal transcription factors_Homo sapiens_hsa030220.26142547
159Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.24797424
160Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.24673330
161Pancreatic cancer_Homo sapiens_hsa052120.23682439
162Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.22667516
163Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.22072446
164ABC transporters_Homo sapiens_hsa020100.21863112
165Sulfur relay system_Homo sapiens_hsa041220.20534127
166Maturity onset diabetes of the young_Homo sapiens_hsa049500.19963259
167Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.18960177
168Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.18062255
169RNA transport_Homo sapiens_hsa030130.17379402
170Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.16666785
171Alcoholism_Homo sapiens_hsa050340.14754669
172Peroxisome_Homo sapiens_hsa041460.14441629
173Parkinsons disease_Homo sapiens_hsa050120.13910072
174Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.12110845

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