NAT1

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 one of two arylamine N-acetyltransferase (NAT) genes in the human genome, and is orthologous to the mouse and rat Nat2 genes. The enzyme encoded by this gene catalyzes the transfer of an acetyl group from acetyl-CoA to various arylamine and hydrazine substrates. This enzyme helps metabolize drugs and other xenobiotics, and functions in folate catabolism. 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
1axonemal dynein complex assembly (GO:0070286)7.61713708
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.67574958
3L-phenylalanine catabolic process (GO:0006559)6.67574958
4triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.53838641
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.36013489
6L-phenylalanine metabolic process (GO:0006558)6.36013489
7aromatic amino acid family catabolic process (GO:0009074)6.01606636
8cilium or flagellum-dependent cell motility (GO:0001539)5.91720506
9sulfur amino acid catabolic process (GO:0000098)5.86692515
10alpha-linolenic acid metabolic process (GO:0036109)5.85407478
11kynurenine metabolic process (GO:0070189)5.44583897
12bile acid biosynthetic process (GO:0006699)5.39490245
13short-chain fatty acid metabolic process (GO:0046459)5.38570301
14indole-containing compound catabolic process (GO:0042436)5.38432298
15indolalkylamine catabolic process (GO:0046218)5.38432298
16tryptophan catabolic process (GO:0006569)5.38432298
17high-density lipoprotein particle remodeling (GO:0034375)5.29160229
18glyoxylate metabolic process (GO:0046487)5.02350600
19tryptophan metabolic process (GO:0006568)4.97118327
20cysteine metabolic process (GO:0006534)4.95872490
21negative regulation of T cell differentiation in thymus (GO:0033085)4.90970819
22urea metabolic process (GO:0019627)4.81708950
23urea cycle (GO:0000050)4.81708950
24cilium movement (GO:0003341)4.80965338
25serine family amino acid catabolic process (GO:0009071)4.71310021
26fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.69346069
27reverse cholesterol transport (GO:0043691)4.63115888
28negative regulation of fibrinolysis (GO:0051918)4.59428941
29regulation of cholesterol esterification (GO:0010872)4.58990916
30motile cilium assembly (GO:0044458)4.57118580
31regulation of protein activation cascade (GO:2000257)4.56745180
32bile acid metabolic process (GO:0008206)4.51352059
33nitrogen cycle metabolic process (GO:0071941)4.47304366
34amino-acid betaine metabolic process (GO:0006577)4.44097950
35plasma lipoprotein particle remodeling (GO:0034369)4.43340283
36protein-lipid complex remodeling (GO:0034368)4.43340283
37macromolecular complex remodeling (GO:0034367)4.43340283
38regulation of fibrinolysis (GO:0051917)4.40947728
39alpha-amino acid catabolic process (GO:1901606)4.40091323
40complement activation, alternative pathway (GO:0006957)4.39024663
41protein carboxylation (GO:0018214)4.37621094
42peptidyl-glutamic acid carboxylation (GO:0017187)4.37621094
43aromatic amino acid family metabolic process (GO:0009072)4.34926365
44water-soluble vitamin biosynthetic process (GO:0042364)4.34010515
45epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.31726875
46regulation of complement activation (GO:0030449)4.28199529
47negative regulation of sterol transport (GO:0032372)4.26390378
48negative regulation of cholesterol transport (GO:0032375)4.26390378
49glutamate metabolic process (GO:0006536)4.25974500
50dicarboxylic acid biosynthetic process (GO:0043650)4.25090772
51lysine catabolic process (GO:0006554)4.24188731
52lysine metabolic process (GO:0006553)4.24188731
53homocysteine metabolic process (GO:0050667)4.22154873
54cellular amino acid catabolic process (GO:0009063)4.21261872
55cellular ketone body metabolic process (GO:0046950)4.19248906
56glycine metabolic process (GO:0006544)4.17285461
57coenzyme catabolic process (GO:0009109)4.12630129
58regulation of triglyceride catabolic process (GO:0010896)4.08099781
59phospholipid efflux (GO:0033700)4.06296775
60serine family amino acid biosynthetic process (GO:0009070)4.03073616
61low-density lipoprotein particle remodeling (GO:0034374)4.00665918
62acylglycerol homeostasis (GO:0055090)3.95230039
63triglyceride homeostasis (GO:0070328)3.95230039
64tyrosine metabolic process (GO:0006570)3.95169139
65serine family amino acid metabolic process (GO:0009069)3.94365357
66cellular modified amino acid catabolic process (GO:0042219)3.93755024
67plasma lipoprotein particle clearance (GO:0034381)3.92062499
68primary alcohol catabolic process (GO:0034310)3.89036254
69non-recombinational repair (GO:0000726)3.86300588
70double-strand break repair via nonhomologous end joining (GO:0006303)3.86300588
71negative regulation of thymocyte apoptotic process (GO:0070244)3.84623667
72fatty acid beta-oxidation (GO:0006635)3.84034533
73bile acid and bile salt transport (GO:0015721)3.83034091
74DNA double-strand break processing (GO:0000729)3.81767922
75carboxylic acid catabolic process (GO:0046395)3.80435414
76organic acid catabolic process (GO:0016054)3.80435414
77epithelial cilium movement (GO:0003351)3.78961911
78regulation of cholesterol homeostasis (GO:2000188)3.77586644
79regulation of thymocyte apoptotic process (GO:0070243)3.77511385
80negative regulation of fatty acid biosynthetic process (GO:0045717)3.74312344
81regulation of interleukin-6 biosynthetic process (GO:0045408)3.73494406
82ethanol oxidation (GO:0006069)3.72022559
83regulation of cytokine production involved in inflammatory response (GO:1900015)3.71883115
84fatty acid oxidation (GO:0019395)3.71151542
85cellular glucuronidation (GO:0052695)3.70888475
86regulation of cholesterol biosynthetic process (GO:0045540)3.68429387
87lipid oxidation (GO:0034440)3.67745205
88regulation of bile acid biosynthetic process (GO:0070857)3.67478705
89cholesterol efflux (GO:0033344)3.66485595
90monocarboxylic acid catabolic process (GO:0072329)3.63704035
91plasma lipoprotein particle assembly (GO:0034377)3.62707854
92cellular biogenic amine catabolic process (GO:0042402)3.62331470
93amine catabolic process (GO:0009310)3.62331470
94benzene-containing compound metabolic process (GO:0042537)3.61476884
95indolalkylamine metabolic process (GO:0006586)3.61125163
96fatty acid catabolic process (GO:0009062)3.59915306
97positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)3.57069867
98positive regulation of mitotic sister chromatid separation (GO:1901970)3.57069867
99positive regulation of mitotic metaphase/anaphase transition (GO:0045842)3.57069867
100ketone body metabolic process (GO:1902224)3.56698777
101pyrimidine-containing compound transmembrane transport (GO:0072531)3.55808640
102arginine metabolic process (GO:0006525)3.54519714
103T-helper 1 type immune response (GO:0042088)3.54306828
104L-serine metabolic process (GO:0006563)3.52915535
105imidazole-containing compound metabolic process (GO:0052803)3.51672640
106carnitine metabolic process (GO:0009437)3.49031000
107retinal cone cell development (GO:0046549)3.47823191
108regulation of cholesterol metabolic process (GO:0090181)3.47813949
109dicarboxylic acid catabolic process (GO:0043649)3.47712729
110copper ion transport (GO:0006825)3.44527602
111fructose metabolic process (GO:0006000)3.44157657
112acetyl-CoA metabolic process (GO:0006084)3.41737144
113very-low-density lipoprotein particle assembly (GO:0034379)3.40660804
114aspartate family amino acid catabolic process (GO:0009068)3.40543646
115response to xenobiotic stimulus (GO:0009410)3.37667783
116cofactor catabolic process (GO:0051187)3.36450580
117drug catabolic process (GO:0042737)3.36406579
118positive regulation of lipid catabolic process (GO:0050996)3.36394750
119very long-chain fatty acid metabolic process (GO:0000038)3.35595550
1202-oxoglutarate metabolic process (GO:0006103)3.35375028
121cholesterol homeostasis (GO:0042632)3.34706962
122plasma lipoprotein particle organization (GO:0071827)3.33653569
123ethanol metabolic process (GO:0006067)3.31229304
124transcription from mitochondrial promoter (GO:0006390)3.19847159
125diterpenoid biosynthetic process (GO:0016102)3.18571722
126mitochondrial DNA replication (GO:0006264)3.15922559
127immunoglobulin mediated immune response (GO:0016064)3.08744726
128axoneme assembly (GO:0035082)2.96786192
129NAD biosynthetic process (GO:0009435)2.95387578
130positive regulation of osteoclast differentiation (GO:0045672)2.91121735
131regulation of immunoglobulin secretion (GO:0051023)2.90493822
132regulation of interleukin-12 biosynthetic process (GO:0045075)2.86539918
133neutrophil activation involved in immune response (GO:0002283)2.82378693
134copper ion homeostasis (GO:0055070)2.80988371
135cytochrome complex assembly (GO:0017004)2.78920041
136B cell mediated immunity (GO:0019724)2.78835089
137terpenoid biosynthetic process (GO:0016114)2.77970229
138myeloid dendritic cell differentiation (GO:0043011)2.77938164
139positive regulation of T cell cytokine production (GO:0002726)2.75455628
140diol metabolic process (GO:0034311)2.73326708
141cellular response to ethanol (GO:0071361)2.72155610
142oxidative phosphorylation (GO:0006119)2.71510786
143tolerance induction (GO:0002507)2.71481766
144left/right axis specification (GO:0070986)2.65179065
145negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.65117727
146cytokine biosynthetic process (GO:0042089)2.64206079
147Golgi transport vesicle coating (GO:0048200)2.63931960
148COPI coating of Golgi vesicle (GO:0048205)2.63931960
149cellular copper ion homeostasis (GO:0006878)2.62295762
150negative regulation of T cell differentiation (GO:0045581)2.61368912
151Arp2/3 complex-mediated actin nucleation (GO:0034314)2.59619591
152positive regulation of chromosome segregation (GO:0051984)2.57343840
153nicotinamide nucleotide biosynthetic process (GO:0019359)2.54827272
154pyridine nucleotide biosynthetic process (GO:0019363)2.54827272
155regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.52689986
156regulation of interleukin-8 biosynthetic process (GO:0045414)2.49784886
157vitamin transmembrane transport (GO:0035461)2.49151475
158sphingoid metabolic process (GO:0046519)2.48097329
159sphingosine metabolic process (GO:0006670)2.46863295
160left/right pattern formation (GO:0060972)2.45885705
161myeloid dendritic cell activation (GO:0001773)2.45223452
162regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator 2.44426148
163type I interferon signaling pathway (GO:0060337)2.44156915
164cellular response to type I interferon (GO:0071357)2.44156915
165response to type I interferon (GO:0034340)2.42378563
166negative regulation of interleukin-12 production (GO:0032695)2.39450832
167regulation of T cell apoptotic process (GO:0070232)2.38801963
168regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)2.37284304
169histone H2B ubiquitination (GO:0033523)2.35836273
170regulation of germinal center formation (GO:0002634)2.35541429
171regulation of interferon-alpha production (GO:0032647)2.33064604
172positive regulation of lymphocyte apoptotic process (GO:0070230)2.31849863
173regulation of T-helper 1 cell differentiation (GO:0045625)2.31616791
174negative regulation of T-helper cell differentiation (GO:0045623)2.31491166
175negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.31491166
176regulation of cytokine secretion involved in immune response (GO:0002739)2.31026357
177membrane protein intracellular domain proteolysis (GO:0031293)2.28461728
178actin nucleation (GO:0045010)2.28134307
179ceramide catabolic process (GO:0046514)2.27600991
180pyridine-containing compound biosynthetic process (GO:0072525)2.27142709
181regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)2.26631078
182response to hydroperoxide (GO:0033194)2.25072278
183somatic diversification of immunoglobulins involved in immune response (GO:0002208)2.25025158
184isotype switching (GO:0045190)2.25025158
185somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)2.25025158
186eosinophil chemotaxis (GO:0048245)2.23608939
187regulation of tolerance induction (GO:0002643)2.22467942
188positive regulation of tolerance induction (GO:0002645)2.20063426

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse7.88286803
2PPARA_22158963_ChIP-Seq_LIVER_Mouse7.00060988
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.34743317
4LXR_22158963_ChIP-Seq_LIVER_Mouse5.88276561
5PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.07959260
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.02712755
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.47789825
8IRF8_22096565_ChIP-ChIP_GC-B_Human3.50741709
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.41043409
10CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.33799600
11IRF8_21731497_ChIP-ChIP_J774_Mouse2.95167825
12IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.89649680
13* ELF1_17652178_ChIP-ChIP_JURKAT_Human2.85878750
14FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.64039240
15TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.39765122
16RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.11645151
17TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.10874744
18ESR1_21235772_ChIP-Seq_MCF-7_Human2.05383553
19ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.6375195
20NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.94645957
21IRF8_27001747_Chip-Seq_BMDM_Mouse1.94412853
22HTT_18923047_ChIP-ChIP_STHdh_Human1.94171256
23SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.88066726
24FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.87684980
25SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.86584244
26MYB_21317192_ChIP-Seq_ERMYB_Mouse1.83525597
27SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.79705506
28STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.78808773
29ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.76955036
30CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.76157806
31PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.68454201
32STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.66954836
33* SPI1_23547873_ChIP-Seq_NB4_Human1.64415676
34* ELF5_23300383_ChIP-Seq_T47D_Human1.64189873
35GABP_17652178_ChIP-ChIP_JURKAT_Human1.62619418
36MYB_26560356_Chip-Seq_TH2_Human1.59170511
37FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.58292205
38ESR1_20079471_ChIP-ChIP_T-47D_Human1.54679234
39Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.54290459
40STAT4_19710469_ChIP-ChIP_TH1__Mouse1.50754683
41STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.50747628
42MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.47495849
43HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.46966429
44KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.46837678
45GATA1_22025678_ChIP-Seq_K562_Human1.46787718
46MYB_26560356_Chip-Seq_TH1_Human1.42316931
47GATA3_24758297_ChIP-Seq_MCF-7_Human1.39082356
48ESR1_15608294_ChIP-ChIP_MCF-7_Human1.39082268
49PADI4_21655091_ChIP-ChIP_MCF-7_Human1.37200929
50BRD4_27068464_Chip-Seq_AML-cells_Mouse1.36490236
51STAT1_20625510_ChIP-Seq_HELA_Human1.34176398
52* HNF4A_19822575_ChIP-Seq_HepG2_Human1.33031774
53GATA4_25053715_ChIP-Seq_YYC3_Human1.32853552
54SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.32782814
55* SOX2_20726797_ChIP-Seq_SW620_Human1.29449368
56GATA3_26560356_Chip-Seq_TH2_Human1.29035609
57ZNF263_19887448_ChIP-Seq_K562_Human1.25492327
58STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.24718660
59NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.22327532
60FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.22143850
61RXRA_24833708_ChIP-Seq_LIVER_Mouse1.21448401
62HOXB4_20404135_ChIP-ChIP_EML_Mouse1.19758909
63CLOCK_20551151_ChIP-Seq_293T_Human1.19066771
64ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.18092696
65RUNX_20019798_ChIP-Seq_JUKART_Human1.17160605
66FLI1_27457419_Chip-Seq_LIVER_Mouse1.16085854
67VDR_23849224_ChIP-Seq_CD4+_Human1.15877849
68JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.15263253
69FOXA2_19822575_ChIP-Seq_HepG2_Human1.14878219
70FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.14100468
71CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.14000142
72EST1_17652178_ChIP-ChIP_JURKAT_Human1.12883574
73GATA3_27048872_Chip-Seq_THYMUS_Human1.12637899
74FOXM1_26456572_ChIP-Seq_MCF-7_Human1.11528604
75NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.10816016
76GATA6_25053715_ChIP-Seq_YYC3_Human1.10789064
77MAF_26560356_Chip-Seq_TH1_Human1.08249253
78PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.05991536
79ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.04773908
80CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.04539470
81GATA1_22383799_ChIP-Seq_G1ME_Mouse1.02054713
82RUNX1_22412390_ChIP-Seq_EML_Mouse1.02015143
83CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.01914318
84CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.00213238
85TFEB_21752829_ChIP-Seq_HELA_Human1.00078560
86PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.99239456
87CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.98203616
88ESR2_21235772_ChIP-Seq_MCF-7_Human0.97893285
89FOXP3_21729870_ChIP-Seq_TREG_Human0.97806319
90SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.97288159
91POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.96626968
92FOXO3_23340844_ChIP-Seq_DLD1_Human0.96335928
93KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.95569550
94SALL4_18804426_ChIP-ChIP_XEN_Mouse0.94979501
95ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.94876946
96MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.94852470
97NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.94836497
98CDX2_20551321_ChIP-Seq_CACO-2_Human0.93371154
99CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.93257646
100ELK1_19687146_ChIP-ChIP_HELA_Human0.93109480
101DCP1A_22483619_ChIP-Seq_HELA_Human0.90662409
102PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.90275693
103PPAR_26484153_Chip-Seq_NCI-H1993_Human0.89950684
104PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.89209173
105SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.88581183
106RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.87540369
107ERG_21242973_ChIP-ChIP_JURKAT_Human0.86319435
108FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.85701014
109FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.85438543
110RUNX1_27514584_Chip-Seq_MCF-7_Human0.85286385
111FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.85071106
112PCGF2_27294783_Chip-Seq_ESCs_Mouse0.84833539
113THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.84355340
114MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.83429974
115AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.83229209
116PU_27001747_Chip-Seq_BMDM_Mouse0.83187910
117GATA1_19941827_ChIP-Seq_MEL_Mouse0.81851503
118SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.80971446
119RARA_24833708_ChIP-Seq_LIVER_Mouse0.79363063
120BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.78952573
121RARG_19884340_ChIP-ChIP_MEFs_Mouse0.78795151
122TAF2_19829295_ChIP-Seq_ESCs_Human0.75437022
123AUTS2_25519132_ChIP-Seq_293T-REX_Human0.75339165
124PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.73319159
125DNAJC2_21179169_ChIP-ChIP_NT2_Human0.73095754
126SOX2_27498859_Chip-Seq_STOMACH_Mouse0.72144331
127STAT3_1855785_ChIP-Seq_MESCs_Mouse0.70646505
128NEUROD2_26341353_ChIP-Seq_CORTEX_Mouse0.68896045
129RAD21_21589869_ChIP-Seq_MESCs_Mouse0.65273306
130SOX2_21211035_ChIP-Seq_LN229_Human0.64952519
131BCAT_22108803_ChIP-Seq_LS180_Human0.63954612
132GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.61516792
133SCL_19346495_ChIP-Seq_HPC-7_Human0.60712702
134AR_20517297_ChIP-Seq_VCAP_Human0.60482724
135ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.59357334
136NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.58789385
137NRF2_20460467_ChIP-Seq_MEFs_Mouse0.58789385
138CBP_21632823_ChIP-Seq_H3396_Human0.58432468
139KAP1_22055183_ChIP-Seq_ESCs_Mouse0.57219920
140LXR_22292898_ChIP-Seq_THP-1_Human0.55999373
141RARB_24833708_ChIP-Seq_LIVER_Mouse0.55873868
142SRF_21415370_ChIP-Seq_HL-1_Mouse0.55488477
143BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.54923409
144CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.54750278
145PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.54647930
146BCL6_27268052_Chip-Seq_Bcells_Human0.53569822
147PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.53286875
148P53_21459846_ChIP-Seq_SAOS-2_Human0.52510998
149SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.52412160
150CTCF_20526341_ChIP-Seq_ESCs_Human0.52050925
151SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.51759748
152* CTCF_21964334_ChIP-Seq_BJAB-B_Human0.50561467
153BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.50460892
154SOX2_18692474_ChIP-Seq_MEFs_Mouse0.50242470
155MYC_27129775_Chip-Seq_CORNEA_Mouse0.49249247
156CEBPB_22108803_ChIP-Seq_LS180_Human0.48893088
157CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.48822262
158* RUNX1_26923725_Chip-Seq_HPCs_Mouse0.48726910
159OCT4_18692474_ChIP-Seq_MEFs_Mouse0.47879679
160AR_21909140_ChIP-Seq_LNCAP_Human0.47820138
161GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.47329502
162GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.47070883
163TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.47026838
164CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.46445367
165CREB1_26743006_Chip-Seq_LNCaP_Human0.45539850
166* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.45157718
167NANOG_20526341_ChIP-Seq_ESCs_Human0.44952359
168IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.44718367
169GATA1_19941826_ChIP-Seq_K562_Human0.44662841
170ESET_19884257_ChIP-Seq_ESCs_Mouse0.44312804
171EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.44014180
172NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.42945546
173EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse0.42740542
174FOXH1_21741376_ChIP-Seq_EPCs_Human0.42688814
175NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.42619700
176LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.42611623
177SMC4_20622854_ChIP-Seq_HELA_Human0.41693658
178FLI1_21867929_ChIP-Seq_CD8_Mouse0.41447660
179STAT1_17558387_ChIP-Seq_HELA_Human0.40295679

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.23298031
2MP0005360_urolithiasis6.60561403
3MP0005085_abnormal_gallbladder_physiolo5.67075940
4MP0005365_abnormal_bile_salt5.47379434
5* MP0008875_abnormal_xenobiotic_pharmacok4.62009925
6MP0003011_delayed_dark_adaptation4.34130696
7MP0009840_abnormal_foam_cell4.11350422
8MP0003806_abnormal_nucleotide_metabolis4.05927491
9MP0010329_abnormal_lipoprotein_level3.54014864
10MP0009785_altered_susceptibility_to3.17208188
11MP0003252_abnormal_bile_duct3.02615097
12MP0010155_abnormal_intestine_physiology2.98637763
13MP0002132_abnormal_respiratory_system2.98153243
14MP0001835_abnormal_antigen_presentation2.97607707
15MP0001790_abnormal_immune_system2.89837068
16MP0005387_immune_system_phenotype2.89837068
17MP0005332_abnormal_amino_acid2.79576002
18MP0002148_abnormal_hypersensitivity_rea2.70838255
19MP0003436_decreased_susceptibility_to2.68599276
20MP0005671_abnormal_response_to2.67801525
21MP0004019_abnormal_vitamin_homeostasis2.58213717
22MP0002166_altered_tumor_susceptibility2.56048002
23MP0005083_abnormal_biliary_tract2.53247168
24MP0010234_abnormal_vibrissa_follicle2.47802338
25MP0003195_calcinosis2.47306235
26MP0005551_abnormal_eye_electrophysiolog2.37010655
27MP0003191_abnormal_cellular_cholesterol2.36245161
28MP0001666_abnormal_nutrient_absorption2.28089392
29MP0001764_abnormal_homeostasis2.24160148
30MP0001849_ear_inflammation2.12398889
31MP0002006_tumorigenesis2.11003168
32MP0001800_abnormal_humoral_immune2.08111405
33MP0000685_abnormal_immune_system2.06453111
34MP0003724_increased_susceptibility_to2.05802835
35MP0002118_abnormal_lipid_homeostasis2.05573982
36MP0000609_abnormal_liver_physiology1.92932326
37MP0005000_abnormal_immune_tolerance1.90727247
38MP0002452_abnormal_antigen_presenting1.90598554
39MP0003868_abnormal_feces_composition1.87248081
40MP0005025_abnormal_response_to1.82284355
41MP0003303_peritoneal_inflammation1.78727639
42MP0010352_gastrointestinal_tract_polyps1.78683732
43MP0003186_abnormal_redox_activity1.73189079
44MP0005319_abnormal_enzyme/_coenzyme1.70890778
45MP0002723_abnormal_immune_serum1.70601579
46MP0003763_abnormal_thymus_physiology1.70058836
47* MP0005584_abnormal_enzyme/coenzyme_acti1.69628044
48MP0003656_abnormal_erythrocyte_physiolo1.69421960
49MP0001845_abnormal_inflammatory_respons1.60514557
50MP0002419_abnormal_innate_immunity1.60172809
51MP0002405_respiratory_system_inflammati1.58262072
52MP0000490_abnormal_crypts_of1.56893597
53MP0006082_CNS_inflammation1.54779940
54MP0005058_abnormal_lysosome_morphology1.54160190
55MP0001819_abnormal_immune_cell1.52915268
56MP0002277_abnormal_respiratory_mucosa1.52313567
57MP0002420_abnormal_adaptive_immunity1.50957208
58MP0001533_abnormal_skeleton_physiology1.48554094
59MP0004947_skin_inflammation1.42903586
60MP0003329_amyloid_beta_deposits1.36862742
61MP0009333_abnormal_splenocyte_physiolog1.33277359
62MP0005310_abnormal_salivary_gland1.30649799
63MP0005253_abnormal_eye_physiology1.30269235
64MP0003705_abnormal_hypodermis_morpholog1.27246508
65MP0003866_abnormal_defecation1.26119588
66MP0000604_amyloidosis1.21858953
67MP0001873_stomach_inflammation1.21731088
68MP0004264_abnormal_extraembryonic_tissu1.20416703
69MP0000716_abnormal_immune_system1.18833138
70MP0002398_abnormal_bone_marrow1.18765085
71MP0002933_joint_inflammation1.18326163
72MP0000689_abnormal_spleen_morphology1.15436394
73MP0002090_abnormal_vision1.14838808
74MP0005165_increased_susceptibility_to1.14034740
75MP0004130_abnormal_muscle_cell1.13835107
76MP0003690_abnormal_glial_cell1.13304962
77MP0009643_abnormal_urine_homeostasis1.10744328
78MP0003300_gastrointestinal_ulcer1.10578279
79MP0000858_altered_metastatic_potential1.09620403
80MP0002722_abnormal_immune_system1.08506861
81MP0001853_heart_inflammation1.06452298
82MP0003941_abnormal_skin_development1.05801943
83MP0006054_spinal_hemorrhage1.05713430
84MP0010094_abnormal_chromosome_stability1.05563773
85MP0003693_abnormal_embryo_hatching1.04721785
86MP0003448_altered_tumor_morphology1.03694526
87MP0006036_abnormal_mitochondrial_physio1.01356165
88MP0010678_abnormal_skin_adnexa0.99687516
89MP0002429_abnormal_blood_cell0.99167835
90MP0005376_homeostasis/metabolism_phenot0.97891040
91MP0005670_abnormal_white_adipose0.97858043
92MP0009697_abnormal_copulation0.97689912
93MP0000598_abnormal_liver_morphology0.97400896
94MP0002254_reproductive_system_inflammat0.96980386
95MP0002138_abnormal_hepatobiliary_system0.96243873
96MP0003183_abnormal_peptide_metabolism0.95737448
97MP0001765_abnormal_ion_homeostasis0.94442645
98MP0005266_abnormal_metabolism0.91547387
99MP0005647_abnormal_sex_gland0.89659611
100MP0009764_decreased_sensitivity_to0.88774751
101MP0003172_abnormal_lysosome_physiology0.88652601
102MP0006072_abnormal_retinal_apoptosis0.87747102
103MP0003950_abnormal_plasma_membrane0.86273531
104MP0001663_abnormal_digestive_system0.85563492
105MP0002876_abnormal_thyroid_physiology0.85138923
106MP0009642_abnormal_blood_homeostasis0.84346469
107MP0000703_abnormal_thymus_morphology0.83329633
108MP0000343_altered_response_to0.82400553
109MP0008873_increased_physiological_sensi0.81697716
110MP0006035_abnormal_mitochondrial_morpho0.81696862
111MP0002971_abnormal_brown_adipose0.81640450
112MP0009763_increased_sensitivity_to0.81312824
113MP0003453_abnormal_keratinocyte_physiol0.81256182
114MP0005451_abnormal_body_composition0.81105313
115MP0008872_abnormal_physiological_respon0.80237650
116MP0003075_altered_response_to0.80197925
117MP0002396_abnormal_hematopoietic_system0.79826141
118MP0005334_abnormal_fat_pad0.77945340
119MP0005636_abnormal_mineral_homeostasis0.77685398
120MP0002136_abnormal_kidney_physiology0.77679534
121MP0005535_abnormal_body_temperature0.77556178
122MP0002282_abnormal_trachea_morphology0.77396469
123MP0002078_abnormal_glucose_homeostasis0.76961859
124MP0000627_abnormal_mammary_gland0.75810829
125MP0005164_abnormal_response_to0.75720485
126MP0005397_hematopoietic_system_phenotyp0.72653689
127MP0001545_abnormal_hematopoietic_system0.72653689
128MP0001986_abnormal_taste_sensitivity0.72152227
129MP0005195_abnormal_posterior_eye0.71814607
130MP0002229_neurodegeneration0.71408316
131MP0000639_abnormal_adrenal_gland0.70674649
132MP0010368_abnormal_lymphatic_system0.69268746
133MP0001324_abnormal_eye_pigmentation0.69185118
134MP0008469_abnormal_protein_level0.68863567
135MP0004147_increased_porphyrin_level0.68813337
136MP0002822_catalepsy0.66708858
137MP0005646_abnormal_pituitary_gland0.64242691
138MP0003638_abnormal_response/metabolism_0.60839918
139MP0009765_abnormal_xenobiotic_induced0.58600944
140MP0004043_abnormal_pH_regulation0.56283125
141MP0002909_abnormal_adrenal_gland0.55558757
142MP0008874_decreased_physiological_sensi0.54219773
143MP0003633_abnormal_nervous_system0.53684039
144MP0002837_dystrophic_cardiac_calcinosis0.53067031
145MP0009672_abnormal_birth_weight0.51859551
146MP0000230_abnormal_systemic_arterial0.51382300
147MP0005448_abnormal_energy_balance0.50646073
148MP0003953_abnormal_hormone_level0.49328058
149MP0005391_vision/eye_phenotype0.49206068
150MP0001756_abnormal_urination0.48692415
151MP0005464_abnormal_platelet_physiology0.45921874
152MP0002332_abnormal_exercise_endurance0.44014428
153MP0002970_abnormal_white_adipose0.43108784
154MP0001661_extended_life_span0.41977068
155MP0003718_maternal_effect0.41942134
156MP0003632_abnormal_nervous_system0.41848290
157MP0009384_cardiac_valve_regurgitation0.41516326
158MP0003631_nervous_system_phenotype0.41233307
159MP0005666_abnormal_adipose_tissue0.41035151
160MP0005166_decreased_susceptibility_to0.39429470
161MP0009780_abnormal_chondrocyte_physiolo0.37911404
162MP0005187_abnormal_penis_morphology0.37141817
163MP0005084_abnormal_gallbladder_morpholo0.36476814
164MP0003890_abnormal_embryonic-extraembry0.36138520
165MP0001984_abnormal_olfaction0.35271740
166MP0009115_abnormal_fat_cell0.33173174
167MP0005395_other_phenotype0.31551232
168MP0002638_abnormal_pupillary_reflex0.31369102
169MP0004885_abnormal_endolymph0.31160465
170MP0004142_abnormal_muscle_tone0.30319203

Predicted human phenotypes

RankGene SetZ-score
1Respiratory insufficiency due to defective ciliary clearance (HP:0200073)7.45708075
2Hyperglycinemia (HP:0002154)6.99360721
3Absent/shortened dynein arms (HP:0200106)6.88613275
4Dynein arm defect of respiratory motile cilia (HP:0012255)6.88613275
5Abnormal respiratory motile cilium morphology (HP:0005938)6.70510736
6Abnormal respiratory epithelium morphology (HP:0012253)6.70510736
7Abnormal respiratory motile cilium physiology (HP:0012261)6.56748919
8Rhinitis (HP:0012384)6.44170157
9Abnormal ciliary motility (HP:0012262)6.38983250
10Abnormality of aromatic amino acid family metabolism (HP:0004338)6.22644869
11Hyperlipoproteinemia (HP:0010980)6.19936712
12Xanthomatosis (HP:0000991)6.00622407
13Intrahepatic cholestasis (HP:0001406)5.86922254
14Deep venous thrombosis (HP:0002625)5.70539708
15Abnormality of glycine metabolism (HP:0010895)5.46131000
16Abnormality of serine family amino acid metabolism (HP:0010894)5.46131000
17Bronchiectasis (HP:0002110)5.35167757
18Hyperammonemia (HP:0001987)5.33568658
19Hypobetalipoproteinemia (HP:0003563)5.29856893
20Chronic bronchitis (HP:0004469)5.28883326
21Abnormality of monocarboxylic acid metabolism (HP:0010996)5.22726298
22Prolonged partial thromboplastin time (HP:0003645)4.88411408
23Ketosis (HP:0001946)4.87686319
24Nasal polyposis (HP:0100582)4.69913856
25Hypolipoproteinemia (HP:0010981)4.56983037
26Hypoalphalipoproteinemia (HP:0003233)4.47799457
27Dyschromatopsia (HP:0007641)4.22616698
28Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.14427182
29Hypoglycemic coma (HP:0001325)4.08670153
30Hyperglycinuria (HP:0003108)4.08362313
31Complement deficiency (HP:0004431)4.05006419
32Abnormality of the nasal mucosa (HP:0000433)4.01945749
33Tetraparesis (HP:0002273)3.93652365
34Bronchitis (HP:0012387)3.85543604
35Abnormality of serum amino acid levels (HP:0003112)3.85097068
36Epidermoid cyst (HP:0200040)3.67574790
37Pigmentary retinal degeneration (HP:0001146)3.59499229
38Abnormality of methionine metabolism (HP:0010901)3.48430190
39Chronic sinusitis (HP:0011109)3.48143788
40Abnormality of sulfur amino acid metabolism (HP:0004339)3.42625507
41Dicarboxylic aciduria (HP:0003215)3.42342860
42Abnormality of dicarboxylic acid metabolism (HP:0010995)3.42342860
43Methylmalonic acidemia (HP:0002912)3.41477866
44Recurrent sinusitis (HP:0011108)3.37682602
45Abnormality of fatty-acid metabolism (HP:0004359)3.36442484
46Abnormality of aspartate family amino acid metabolism (HP:0010899)3.35017701
47Abnormality of the common coagulation pathway (HP:0010990)3.28042270
48Joint hemorrhage (HP:0005261)3.27981780
49Delayed CNS myelination (HP:0002188)3.24923381
50Hyperactive renin-angiotensin system (HP:0000841)3.21696875
51Congenital stationary night blindness (HP:0007642)3.21049833
52Abnormality of B cell number (HP:0010975)3.18216789
53B lymphocytopenia (HP:0010976)3.16738110
54Methylmalonic aciduria (HP:0012120)3.16499724
55Abnormality of glutamine family amino acid metabolism (HP:0010902)3.14495113
56Fat malabsorption (HP:0002630)3.13217792
57Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.13140085
58Ketoacidosis (HP:0001993)3.09369119
59Recurrent otitis media (HP:0000403)3.06747880
60Hypercholesterolemia (HP:0003124)3.04556712
61Metabolic acidosis (HP:0001942)3.03556417
62Hyperbilirubinemia (HP:0002904)2.92065442
63Recurrent bronchitis (HP:0002837)2.86997545
64Lethargy (HP:0001254)2.82012229
65Abnormality of complement system (HP:0005339)2.80217940
66Chorioretinal atrophy (HP:0000533)2.74030868
67Male infertility (HP:0003251)2.69232448
68Posterior subcapsular cataract (HP:0007787)2.68192466
69Absent rod-and cone-mediated responses on ERG (HP:0007688)2.66090554
70Abnormality of pyrimidine metabolism (HP:0004353)2.65955131
71Chronic otitis media (HP:0000389)2.60760442
72Conjugated hyperbilirubinemia (HP:0002908)2.59807566
73Abnormality of the intrinsic pathway (HP:0010989)2.56050789
74Autoimmune hemolytic anemia (HP:0001890)2.55935156
75Gout (HP:0001997)2.53834502
76Bony spicule pigmentary retinopathy (HP:0007737)2.51963835
77Spontaneous abortion (HP:0005268)2.50315508
78Generalized aminoaciduria (HP:0002909)2.49987915
79Sensorimotor neuropathy (HP:0007141)2.49509993
80Abnormality of vitamin metabolism (HP:0100508)2.48886621
81Tubulointerstitial fibrosis (HP:0005576)2.46687012
82Infertility (HP:0000789)2.45364322
83Abnormality of nucleobase metabolism (HP:0010932)2.38846812
84Upper motor neuron abnormality (HP:0002127)2.38669070
85Steatorrhea (HP:0002570)2.36665044
86Autoimmune thrombocytopenia (HP:0001973)2.35944515
87Hepatosplenomegaly (HP:0001433)2.33095202
88Abnormality of macular pigmentation (HP:0008002)2.32409773
89Panhypogammaglobulinemia (HP:0003139)2.31700473
90Acanthocytosis (HP:0001927)2.31412402
91Vomiting (HP:0002013)2.31407166
92Skin nodule (HP:0200036)2.29034736
93Hypoplasia of the uterus (HP:0000013)2.27972407
94Tetraplegia (HP:0002445)2.27015127
95Abnormality of purine metabolism (HP:0004352)2.25292652
96Hypoplasia of the thymus (HP:0000778)2.23002660
97Central scotoma (HP:0000603)2.22511751
98Periodontitis (HP:0000704)2.22251089
99Thyroiditis (HP:0100646)2.21993823
100Abnormality of T cell number (HP:0011839)2.21760167
101Abnormal rod and cone electroretinograms (HP:0008323)2.21713931
102Premature loss of primary teeth (HP:0006323)2.20003376
103Glucose intolerance (HP:0000833)2.18619574
104Vitreoretinal degeneration (HP:0000655)2.18310412
105Recurrent cutaneous fungal infections (HP:0011370)2.17447256
106Chronic mucocutaneous candidiasis (HP:0002728)2.17447256
107T lymphocytopenia (HP:0005403)2.17232520
108Recurrent abscess formation (HP:0002722)2.16840782
109Late onset (HP:0003584)2.16787258
110Abnormality of the distal phalanges of the toes (HP:0010182)2.14906779
111Recurrent bacterial skin infections (HP:0005406)2.12060396
112Renal cortical cysts (HP:0000803)2.10942437
113Spastic diplegia (HP:0001264)2.09798819
114Severe combined immunodeficiency (HP:0004430)2.08948215
115Cerebral edema (HP:0002181)2.08622706
116Abnormal gallbladder morphology (HP:0012437)2.07377232
117Respiratory distress (HP:0002098)2.07196267
118Neonatal onset (HP:0003623)2.07101684
119Irritability (HP:0000737)2.07015736
120Myocardial infarction (HP:0001658)2.05929766
121Decreased central vision (HP:0007663)2.05050486
122Scotoma (HP:0000575)2.02138053
123Delayed myelination (HP:0012448)2.02062927
124Recurrent fungal infections (HP:0002841)2.01573001
125Abnormality of the proximal phalanges of the hand (HP:0009834)2.01494247
126Cholelithiasis (HP:0001081)2.01426170
127IgM deficiency (HP:0002850)2.00910673
128Hypoproteinemia (HP:0003075)1.99801056
129Pendular nystagmus (HP:0012043)1.98744297
130Hypoglycemic seizures (HP:0002173)1.98374746
131Elevated erythrocyte sedimentation rate (HP:0003565)1.97324642
132Decreased circulating renin level (HP:0003351)1.96394413
133Hepatocellular carcinoma (HP:0001402)1.96177165
134Spastic paraparesis (HP:0002313)1.95931925
135Abolished electroretinogram (ERG) (HP:0000550)1.94428133
136Dysostosis multiplex (HP:0000943)1.94317458
137Vacuolated lymphocytes (HP:0001922)1.94035301
138Abnormality of vitamin B metabolism (HP:0004340)1.91800776
139Vascular calcification (HP:0004934)1.91743637
140Bilateral sensorineural hearing impairment (HP:0008619)1.91048776
141Macular degeneration (HP:0000608)1.90644263
142Hypertriglyceridemia (HP:0002155)1.90374775
143Abnormality of the vitamin B12 metabolism (HP:0004341)1.90320078
144Flat acetabular roof (HP:0003180)1.90168768
145Cholecystitis (HP:0001082)1.88862310
146Abnormal gallbladder physiology (HP:0012438)1.88862310
147Status epilepticus (HP:0002133)1.85979901
148Recurrent pneumonia (HP:0006532)1.85921206
149Combined immunodeficiency (HP:0005387)1.85892389
150Abnormality of T cells (HP:0002843)1.85285788
151Stomatitis (HP:0010280)1.85127534
152Recurrent viral infections (HP:0004429)1.84994548
153Abnormality of chloride homeostasis (HP:0011422)1.84816365
154Hyperinsulinemic hypoglycemia (HP:0000825)1.83462376
155Renal salt wasting (HP:0000127)1.82802160
156Myositis (HP:0100614)1.82281038
157Abnormal spermatogenesis (HP:0008669)1.79972282
158Neurodegeneration (HP:0002180)1.79935542
159Loss of speech (HP:0002371)1.78872600
160Mitral stenosis (HP:0001718)1.77938454
161Tubulointerstitial abnormality (HP:0001969)1.77885873
162Mucopolysacchariduria (HP:0008155)1.77234653
163Urinary glycosaminoglycan excretion (HP:0003541)1.77234653
164Orchitis (HP:0100796)1.77095451
165Abnormality of transition element cation homeostasis (HP:0011030)1.76412734
166Abnormality of iron homeostasis (HP:0011031)1.76343526
167Median cleft lip (HP:0000161)1.75536476
168Hyperventilation (HP:0002883)1.73684233
169Malnutrition (HP:0004395)1.72870782
170Proximal tubulopathy (HP:0000114)1.69202952
171Increased cerebral lipofuscin (HP:0011813)1.67967743
172Abnormality of macrophages (HP:0004311)1.67045788
173Recurrent skin infections (HP:0001581)1.66504221
174Increased neuronal autofluorescent lipopigment (HP:0002074)1.66158201
175Eosinophilia (HP:0001880)1.66096995
176Hypokinesia (HP:0002375)1.65819246
177Chronic diarrhea (HP:0002028)1.64704709
178Subcapsular cataract (HP:0000523)1.63082987
179Aplasia/hypoplasia of the uterus (HP:0008684)1.59496264
180Abnormality of polysaccharide metabolism (HP:0011012)1.58782418
181Abnormality of glycosaminoglycan metabolism (HP:0004371)1.58782418
182Abnormality of mucopolysaccharide metabolism (HP:0011020)1.58782418
183Meningitis (HP:0001287)1.57638987
184Abnormality of liposaccharide metabolism (HP:0010968)1.57621461
185Abnormality of glycosphingolipid metabolism (HP:0004343)1.57621461
186Abnormality of glycolipid metabolism (HP:0010969)1.57621461
187Azoospermia (HP:0000027)1.56863024
188Retrobulbar optic neuritis (HP:0100654)1.56853397
189Optic neuritis (HP:0100653)1.56853397
190Tubulointerstitial nephritis (HP:0001970)1.56117130
191Abnormality of the frontal sinuses (HP:0002687)1.54520906
192Mucosal telangiectasiae (HP:0100579)1.54270433
193Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)1.54258503
194Abnormality of renin-angiotensin system (HP:0000847)1.53741755
195Hyperaldosteronism (HP:0000859)1.52291830
196Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)1.51698895

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK5.87692041
2MST45.70379878
3CAMK1D5.40331569
4EIF2AK34.55360367
5CAMK1G3.78554079
6PINK13.42858134
7SIK13.39772767
8CAMKK23.08848959
9RIPK42.96649640
10EPHA22.94685020
11ACVR1B2.81821263
12TLK12.73990855
13GRK12.55879112
14FGFR42.54683991
15MAP2K42.50438457
16FLT32.27287010
17MAPKAPK32.25884134
18MAPK152.20600508
19ERN12.13648592
20MAP3K32.08126220
21TRIB32.07759013
22CAMKK12.07499194
23MAP3K121.96946575
24TYK21.85428850
25MAP3K141.73183790
26PIK3CA1.71376497
27TBK11.66969719
28TESK21.56454625
29SCYL21.55893301
30FRK1.54003114
31SMG11.50819936
32BMPR21.49496479
33EPHA41.46308385
34MAPK111.44785110
35ERBB41.39289255
36MAP3K21.32352207
37TTK1.30303301
38STK101.30041358
39TIE11.29468754
40BLK1.28746779
41STK241.27974096
42TAOK31.27654390
43INSRR1.23669943
44TXK1.21586693
45NEK91.19682940
46PHKG11.15354987
47PHKG21.15354987
48MAPK121.11666388
49CSK1.11537577
50STK391.10661696
51NEK61.10188175
52ZAK1.06135399
53NEK11.02105257
54MINK11.01393284
55EIF2AK11.00908347
56MAP4K10.99599464
57CAMK10.99475388
58IKBKE0.99058528
59LMTK20.97995843
60BTK0.96151766
61OXSR10.94478303
62CLK10.94410849
63ZAP700.93993506
64PASK0.91188207
65NUAK10.90195327
66PDK10.88605353
67PRKCH0.88337215
68CSF1R0.88127001
69PRKCI0.87852130
70RPS6KB20.87427780
71PRKACG0.87098572
72BRSK20.86556318
73IKBKB0.85815917
74TGFBR20.85589732
75DAPK20.83788816
76MAP3K110.83640255
77ABL20.82671162
78IRAK30.81125474
79PIM20.77052384
80PAK40.75209805
81PKN20.75187334
82PIK3CG0.73662907
83SGK20.73485741
84PRKAA20.73412794
85NTRK10.73214846
86CDK190.73143575
87PRKCG0.71762172
88CHUK0.71677798
89JAK30.71542396
90JAK10.71266792
91CAMK40.70837323
92MAPK40.70554151
93TRIM280.69571469
94PBK0.69497604
95BMPR1B0.69383325
96SRPK10.68714363
97CDK60.68544098
98LATS20.67934289
99LYN0.67784618
100RIPK10.67664130
101NME20.67072383
102EPHB10.64709761
103STK160.64059792
104IRAK40.62210382
105EPHA30.61753129
106YES10.61618355
107NTRK30.61241690
108MAP2K70.61153515
109PDPK10.59923419
110IRAK20.59557845
111ADRBK10.58397219
112FER0.58007843
113RAF10.57882926
114LCK0.57832075
115MAP2K10.57586119
116PRKAA10.55372954
117KDR0.55275680
118SGK4940.54961054
119SGK2230.54961054
120SIK30.54473644
121SYK0.53777171
122TSSK60.53454149
123MAP3K130.53276161
124PLK30.52740509
125ILK0.52621363
126CDK70.52259657
127CAMK2G0.52249510
128SGK30.50552130
129PDK30.49985291
130PDK40.49985291
131VRK20.49932407
132LRRK20.47260927
133RPS6KB10.47198309
134MET0.46884169
135MAP3K70.45115132
136MAPK70.45078760
137TNK20.44982531
138CDK50.43751013
139MAP3K80.43746706
140FGFR30.43060853
141JAK20.42935073
142TESK10.42726521
143DAPK10.42692534
144BCR0.42276924
145TRPM70.41980994
146PAK30.41926100
147GRK50.41805240
148EEF2K0.40533890
149PRKCZ0.40492529
150HCK0.40142829
151CSNK1A10.39655460
152MAP2K30.38058626
153PAK10.36706393
154ERBB20.36600753
155GRK60.34399654
156PRKACB0.33995686
157PRKD10.33363738
158MST1R0.32932669
159LATS10.32887011
160PRKCA0.32696817
161KIT0.32067427
162EIF2AK20.31556092
163PRKCD0.31197942
164STK380.31159879
165TAOK20.31054314
166ARAF0.30776069
167ERBB30.30605355
168TAF10.30571061
169PRKACA0.28823275
170MATK0.28623907
171MAP3K10.28587755
172MYLK0.28270438
173IGF1R0.27550809
174PRKCB0.26108845
175RPS6KA30.25877611
176GRK70.25642924

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009104.58385087
2Primary bile acid biosynthesis_Homo sapiens_hsa001204.08533971
3Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.09848127
4Proteasome_Homo sapiens_hsa030503.08584993
5Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.91643143
6Arginine biosynthesis_Homo sapiens_hsa002202.89468608
7Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.88421127
8Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.87145771
9Phototransduction_Homo sapiens_hsa047442.78619044
10Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.62195385
11Fatty acid degradation_Homo sapiens_hsa000712.58168035
12Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.41512437
13Allograft rejection_Homo sapiens_hsa053302.38152237
14Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.37796781
15Tryptophan metabolism_Homo sapiens_hsa003802.34808671
16Complement and coagulation cascades_Homo sapiens_hsa046102.25326479
17Autoimmune thyroid disease_Homo sapiens_hsa053202.11929237
18Pentose and glucuronate interconversions_Homo sapiens_hsa000402.09730625
19Sulfur metabolism_Homo sapiens_hsa009202.07145895
20Fatty acid metabolism_Homo sapiens_hsa012122.07099699
21Butanoate metabolism_Homo sapiens_hsa006502.04255620
22Peroxisome_Homo sapiens_hsa041462.00525807
23Propanoate metabolism_Homo sapiens_hsa006401.98618294
24* Caffeine metabolism_Homo sapiens_hsa002321.92774106
25Intestinal immune network for IgA production_Homo sapiens_hsa046721.89278261
26PPAR signaling pathway_Homo sapiens_hsa033201.83353577
27Graft-versus-host disease_Homo sapiens_hsa053321.82662439
28Asthma_Homo sapiens_hsa053101.81590532
29beta-Alanine metabolism_Homo sapiens_hsa004101.81347018
30Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.79125742
31* Drug metabolism - other enzymes_Homo sapiens_hsa009831.76904140
32Primary immunodeficiency_Homo sapiens_hsa053401.76172122
332-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.76090382
34Sphingolipid metabolism_Homo sapiens_hsa006001.75143028
35Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.72821897
36Leishmaniasis_Homo sapiens_hsa051401.69178771
37Type I diabetes mellitus_Homo sapiens_hsa049401.67715855
38Histidine metabolism_Homo sapiens_hsa003401.65921020
39Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.65408790
40* Chemical carcinogenesis_Homo sapiens_hsa052041.63276008
41Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.57023166
42Hematopoietic cell lineage_Homo sapiens_hsa046401.55403761
43Steroid hormone biosynthesis_Homo sapiens_hsa001401.53997452
44Antigen processing and presentation_Homo sapiens_hsa046121.52836567
45Retinol metabolism_Homo sapiens_hsa008301.52557534
46Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.52503971
47RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.51581585
48Fatty acid elongation_Homo sapiens_hsa000621.51099363
49Measles_Homo sapiens_hsa051621.49747851
50NF-kappa B signaling pathway_Homo sapiens_hsa040641.49701346
51Phenylalanine metabolism_Homo sapiens_hsa003601.49342147
52Bile secretion_Homo sapiens_hsa049761.44810082
53Selenocompound metabolism_Homo sapiens_hsa004501.43981882
54Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.43106711
55Rheumatoid arthritis_Homo sapiens_hsa053231.40886012
56Biosynthesis of amino acids_Homo sapiens_hsa012301.39773080
57Cysteine and methionine metabolism_Homo sapiens_hsa002701.37633457
58Hepatitis C_Homo sapiens_hsa051601.33942553
59Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.33196184
60Carbon metabolism_Homo sapiens_hsa012001.32183751
61Toll-like receptor signaling pathway_Homo sapiens_hsa046201.31605291
62Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.28876442
63Pyruvate metabolism_Homo sapiens_hsa006201.28130874
64Herpes simplex infection_Homo sapiens_hsa051681.23369198
65Tyrosine metabolism_Homo sapiens_hsa003501.22763279
66Influenza A_Homo sapiens_hsa051641.22425956
67Staphylococcus aureus infection_Homo sapiens_hsa051501.19899536
68Lysosome_Homo sapiens_hsa041421.19604503
69Starch and sucrose metabolism_Homo sapiens_hsa005001.18856835
70Glycosaminoglycan degradation_Homo sapiens_hsa005311.16931826
71Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.16289770
72Folate biosynthesis_Homo sapiens_hsa007901.12660837
73Other glycan degradation_Homo sapiens_hsa005111.12185427
74Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.12000116
75Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.09817086
76Jak-STAT signaling pathway_Homo sapiens_hsa046301.09620975
77Cyanoamino acid metabolism_Homo sapiens_hsa004601.06514631
78Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.04674965
79Non-homologous end-joining_Homo sapiens_hsa034501.04341274
80ABC transporters_Homo sapiens_hsa020101.02052695
81Tuberculosis_Homo sapiens_hsa051521.01557116
82Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.99515503
83Legionellosis_Homo sapiens_hsa051340.97590857
84Fatty acid biosynthesis_Homo sapiens_hsa000610.97263440
85Osteoclast differentiation_Homo sapiens_hsa043800.97238217
86B cell receptor signaling pathway_Homo sapiens_hsa046620.96762297
87Vitamin B6 metabolism_Homo sapiens_hsa007500.95068059
88Toxoplasmosis_Homo sapiens_hsa051450.94903057
89Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.93865198
90NOD-like receptor signaling pathway_Homo sapiens_hsa046210.92093338
91SNARE interactions in vesicular transport_Homo sapiens_hsa041300.91194079
92Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.90536407
93N-Glycan biosynthesis_Homo sapiens_hsa005100.90164563
94Steroid biosynthesis_Homo sapiens_hsa001000.90135568
95Arginine and proline metabolism_Homo sapiens_hsa003300.88189569
96Pentose phosphate pathway_Homo sapiens_hsa000300.87905340
97Arachidonic acid metabolism_Homo sapiens_hsa005900.86530513
98Sulfur relay system_Homo sapiens_hsa041220.85908945
99Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.85350210
100Fat digestion and absorption_Homo sapiens_hsa049750.84171877
101Shigellosis_Homo sapiens_hsa051310.82206141
102Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.81637104
103Glycerolipid metabolism_Homo sapiens_hsa005610.73204072
104Systemic lupus erythematosus_Homo sapiens_hsa053220.70693724
105Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.70130654
106Pertussis_Homo sapiens_hsa051330.67811273
107Epstein-Barr virus infection_Homo sapiens_hsa051690.67041843
108Fructose and mannose metabolism_Homo sapiens_hsa000510.66313630
109Mismatch repair_Homo sapiens_hsa034300.66020802
110Apoptosis_Homo sapiens_hsa042100.64341451
111Huntingtons disease_Homo sapiens_hsa050160.62690616
112Vitamin digestion and absorption_Homo sapiens_hsa049770.62028623
113TNF signaling pathway_Homo sapiens_hsa046680.61666259
114Galactose metabolism_Homo sapiens_hsa000520.61227147
115Maturity onset diabetes of the young_Homo sapiens_hsa049500.58332246
116Mineral absorption_Homo sapiens_hsa049780.56119561
117Glutathione metabolism_Homo sapiens_hsa004800.56018748
118Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.54398285
119Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.52225886
120* Metabolic pathways_Homo sapiens_hsa011000.50065748
121Viral myocarditis_Homo sapiens_hsa054160.49825489
122Regulation of autophagy_Homo sapiens_hsa041400.49060361
123Lysine degradation_Homo sapiens_hsa003100.48283103
124Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.47785507
125One carbon pool by folate_Homo sapiens_hsa006700.45349195
126Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.40844627
127Malaria_Homo sapiens_hsa051440.40687281
128Phagosome_Homo sapiens_hsa041450.39419636
129Hepatitis B_Homo sapiens_hsa051610.39115359
130Transcriptional misregulation in cancer_Homo sapiens_hsa052020.37878681
131Leukocyte transendothelial migration_Homo sapiens_hsa046700.37293170
132Adipocytokine signaling pathway_Homo sapiens_hsa049200.37291344
133Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.34198514
134p53 signaling pathway_Homo sapiens_hsa041150.32774344
135Glucagon signaling pathway_Homo sapiens_hsa049220.30652787
136Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.27527313
137Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.25996462
138Insulin resistance_Homo sapiens_hsa049310.25019859
139Prion diseases_Homo sapiens_hsa050200.20369111
140Glycerophospholipid metabolism_Homo sapiens_hsa005640.14042028
141Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.10424211
142Circadian rhythm_Homo sapiens_hsa047100.08807314
143AMPK signaling pathway_Homo sapiens_hsa041520.06586902
144Pyrimidine metabolism_Homo sapiens_hsa002400.04568717
145GABAergic synapse_Homo sapiens_hsa047270.02714407
146Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.02321470
147Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1711664
148Synaptic vesicle cycle_Homo sapiens_hsa04721-0.1604389
149Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1527128
150Ovarian steroidogenesis_Homo sapiens_hsa04913-0.1387572
151Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.1235315
152Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.1027332
153Linoleic acid metabolism_Homo sapiens_hsa00591-0.0980405
154Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.0973448
155Aldosterone synthesis and secretion_Homo sapiens_hsa04925-0.0902244
156Thyroid hormone synthesis_Homo sapiens_hsa04918-0.0733272
157African trypanosomiasis_Homo sapiens_hsa05143-0.0581350
158Purine metabolism_Homo sapiens_hsa00230-0.0576693
159Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa04961-0.0505194
160Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.0385000
161Insulin signaling pathway_Homo sapiens_hsa04910-0.0295243
162alpha-Linolenic acid metabolism_Homo sapiens_hsa00592-0.0113083

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