DPYD

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





Description: The protein encoded by this gene is a pyrimidine catabolic enzyme and the initial and rate-limiting factor in the pathway of uracil and thymidine catabolism. Mutations in this gene result in dihydropyrimidine dehydrogenase deficiency, an error in pyrimidine metabolism associated with thymine-uraciluria and an increased risk of toxicity in cancer patients receiving 5-fluorouracil chemotherapy. Two 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
1L-phenylalanine catabolic process (GO:0006559)7.49677407
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.49677407
3L-phenylalanine metabolic process (GO:0006558)7.15102641
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.15102641
5aromatic amino acid family catabolic process (GO:0009074)6.79065174
6triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.22981573
7indole-containing compound catabolic process (GO:0042436)6.15021917
8indolalkylamine catabolic process (GO:0046218)6.15021917
9tryptophan catabolic process (GO:0006569)6.15021917
10kynurenine metabolic process (GO:0070189)6.00479816
11bile acid biosynthetic process (GO:0006699)5.93254940
12tryptophan metabolic process (GO:0006568)5.79204755
13urea cycle (GO:0000050)5.76032851
14urea metabolic process (GO:0019627)5.76032851
15glyoxylate metabolic process (GO:0046487)5.68288580
16alpha-linolenic acid metabolic process (GO:0036109)5.59556011
17positive regulation of gamma-delta T cell activation (GO:0046645)5.55199469
18high-density lipoprotein particle remodeling (GO:0034375)5.40680582
19negative regulation of fibrinolysis (GO:0051918)5.40323936
20cysteine metabolic process (GO:0006534)5.38834251
21complement activation, alternative pathway (GO:0006957)5.33878946
22sulfur amino acid catabolic process (GO:0000098)5.32665813
23nitrogen cycle metabolic process (GO:0071941)5.29286898
24regulation of protein activation cascade (GO:2000257)5.27154905
25protein carboxylation (GO:0018214)5.22370383
26peptidyl-glutamic acid carboxylation (GO:0017187)5.22370383
27regulation of fibrinolysis (GO:0051917)5.21263786
28negative regulation of leukocyte mediated cytotoxicity (GO:0001911)5.13046942
29negative regulation of cell killing (GO:0031342)5.13046942
30bile acid metabolic process (GO:0008206)5.08790685
31serine family amino acid catabolic process (GO:0009071)5.06521261
32homocysteine metabolic process (GO:0050667)5.01912621
33fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.96167618
34regulation of complement activation (GO:0030449)4.93633644
35aromatic amino acid family metabolic process (GO:0009072)4.93149929
36antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.90856230
37detection of molecule of bacterial origin (GO:0032490)4.89112477
38regulation of triglyceride catabolic process (GO:0010896)4.85140563
39regulation of cholesterol esterification (GO:0010872)4.79265758
40tyrosine metabolic process (GO:0006570)4.77208154
41neutrophil activation involved in immune response (GO:0002283)4.73670538
42reverse cholesterol transport (GO:0043691)4.73147794
43lysine metabolic process (GO:0006553)4.72393353
44lysine catabolic process (GO:0006554)4.72393353
45protein-lipid complex remodeling (GO:0034368)4.68010717
46macromolecular complex remodeling (GO:0034367)4.68010717
47plasma lipoprotein particle remodeling (GO:0034369)4.68010717
48amino-acid betaine metabolic process (GO:0006577)4.66496321
49alpha-amino acid catabolic process (GO:1901606)4.63521611
50positive regulation by symbiont of host defense response (GO:0052509)4.62157094
51modulation by symbiont of host defense response (GO:0052031)4.62157094
52modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.62157094
53modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.62157094
54positive regulation by organism of defense response of other organism involved in symbiotic interact4.62157094
55modulation by symbiont of host immune response (GO:0052553)4.62157094
56acylglycerol homeostasis (GO:0055090)4.55973629
57triglyceride homeostasis (GO:0070328)4.55973629
58negative regulation of sterol transport (GO:0032372)4.51492547
59negative regulation of cholesterol transport (GO:0032375)4.51492547
60phospholipid efflux (GO:0033700)4.49852216
61bile acid and bile salt transport (GO:0015721)4.47993422
62detection of other organism (GO:0098543)4.41476315
63cellular extravasation (GO:0045123)4.41463878
64cellular ketone body metabolic process (GO:0046950)4.36820865
65indolalkylamine metabolic process (GO:0006586)4.36319383
66cellular glucuronidation (GO:0052695)4.34841516
67coenzyme catabolic process (GO:0009109)4.34488790
68glycine metabolic process (GO:0006544)4.31174258
69regulation of B cell receptor signaling pathway (GO:0050855)4.28837367
70cellular amino acid catabolic process (GO:0009063)4.27670604
71macrophage activation involved in immune response (GO:0002281)4.27405780
72plasma lipoprotein particle clearance (GO:0034381)4.27008268
73imidazole-containing compound metabolic process (GO:0052803)4.25404014
74amine catabolic process (GO:0009310)4.25306069
75cellular biogenic amine catabolic process (GO:0042402)4.25306069
76glutamate metabolic process (GO:0006536)4.23332891
77detection of external biotic stimulus (GO:0098581)4.23107354
78cholesterol efflux (GO:0033344)4.19283081
79response to peptidoglycan (GO:0032494)4.15769212
80negative regulation of interleukin-12 production (GO:0032695)4.15333128
81serine family amino acid metabolic process (GO:0009069)4.14596523
82regulation of gamma-delta T cell activation (GO:0046643)4.13586439
83benzene-containing compound metabolic process (GO:0042537)4.11676649
84drug catabolic process (GO:0042737)4.10535372
85ethanol oxidation (GO:0006069)4.10259530
86positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)4.09977118
87microglial cell activation (GO:0001774)4.09937238
88antigen processing and presentation of endogenous antigen (GO:0019883)4.06403017
89cellular modified amino acid catabolic process (GO:0042219)4.06252611
90dicarboxylic acid biosynthetic process (GO:0043650)4.01562799
91arginine metabolic process (GO:0006525)3.99986440
92plasma lipoprotein particle assembly (GO:0034377)3.98518584
93low-density lipoprotein particle remodeling (GO:0034374)3.95944537
94antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.95569875
95serine family amino acid biosynthetic process (GO:0009070)3.95564563
96regulation of bile acid biosynthetic process (GO:0070857)3.93492912
97detection of bacterium (GO:0016045)3.89991856
98fibrinolysis (GO:0042730)3.88584094
99aldehyde catabolic process (GO:0046185)3.88209010
100glucuronate metabolic process (GO:0019585)3.87115731
101uronic acid metabolic process (GO:0006063)3.87115731
102very-low-density lipoprotein particle assembly (GO:0034379)3.81467221
103positive regulation of lipid catabolic process (GO:0050996)3.78579634
104ketone body metabolic process (GO:1902224)3.78067178
105cholesterol homeostasis (GO:0042632)3.77139977
106phospholipid homeostasis (GO:0055091)3.76981140
107regulation of gamma-delta T cell differentiation (GO:0045586)3.76226757
108carboxylic acid catabolic process (GO:0046395)3.76008215
109organic acid catabolic process (GO:0016054)3.76008215
110positive regulation of lipoprotein lipase activity (GO:0051006)3.75413449
111positive regulation of triglyceride lipase activity (GO:0061365)3.75413449
112acetyl-CoA metabolic process (GO:0006084)3.75217898
113short-chain fatty acid metabolic process (GO:0046459)3.73242712
114detection of biotic stimulus (GO:0009595)3.73019970
115sterol homeostasis (GO:0055092)3.71187560
116cofactor catabolic process (GO:0051187)3.70950735
117blood coagulation, intrinsic pathway (GO:0007597)3.70214465
118complement activation, classical pathway (GO:0006958)3.70024649
119regulation of cholesterol homeostasis (GO:2000188)3.69426072
120complement activation (GO:0006956)3.68061174
121negative regulation of lipase activity (GO:0060192)3.66781052
122cytolysis (GO:0019835)3.65316079
123protein activation cascade (GO:0072376)3.63886393
124positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.62669398
125flavonoid metabolic process (GO:0009812)3.62583409
126macrophage activation (GO:0042116)3.58804589
127protein-lipid complex assembly (GO:0065005)3.58196056
128positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.58170577
129antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.57958420
130plasma lipoprotein particle organization (GO:0071827)3.57479478
131exogenous drug catabolic process (GO:0042738)3.57376148
132positive regulation of mast cell activation (GO:0033005)3.47236236
133immunoglobulin mediated immune response (GO:0016064)3.45940140
134regulation of interferon-beta biosynthetic process (GO:0045357)3.38551024
135neutrophil activation (GO:0042119)3.37218829
136negative regulation of lymphocyte mediated immunity (GO:0002707)3.32905666
137response to host immune response (GO:0052572)3.31873756
138response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.31873756
139myeloid cell activation involved in immune response (GO:0002275)3.30118412
140negative regulation of T cell mediated immunity (GO:0002710)3.18877509
141regulation of mast cell degranulation (GO:0043304)3.14975887
142regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.14298354
143neutrophil mediated immunity (GO:0002446)3.13852689
144granulocyte activation (GO:0036230)3.12961076
145response to host (GO:0075136)3.11899270
146response to host defenses (GO:0052200)3.11899270
147response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.11899270
148regulation of mast cell activation (GO:0033003)3.11345862
149negative thymic T cell selection (GO:0045060)3.10483465
150leukocyte aggregation (GO:0070486)3.10154123
151negative T cell selection (GO:0043383)3.08922124
152B cell receptor signaling pathway (GO:0050853)3.03726340
153positive regulation of cellular amide metabolic process (GO:0034250)3.01536280
154positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.00256015
155positive regulation of mast cell degranulation (GO:0043306)2.99209042
156positive regulation of mast cell activation involved in immune response (GO:0033008)2.99209042
157regulation of mast cell activation involved in immune response (GO:0033006)2.98393584
158regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.98250352
159positive regulation of B cell differentiation (GO:0045579)2.96929575
160response to interleukin-15 (GO:0070672)2.96729628
161cellular response to ethanol (GO:0071361)2.96017045
162negative regulation of leukocyte mediated immunity (GO:0002704)2.95739825
163regulation of myeloid leukocyte mediated immunity (GO:0002886)2.95239130
164regulation of tolerance induction (GO:0002643)2.94972548
165regulation of dendritic cell antigen processing and presentation (GO:0002604)2.93570364
166myeloid leukocyte mediated immunity (GO:0002444)2.90653137
167regulation of macrophage cytokine production (GO:0010935)2.90604652
168negative regulation of interleukin-17 production (GO:0032700)2.89560071
169positive thymic T cell selection (GO:0045059)2.88720198
170production of molecular mediator involved in inflammatory response (GO:0002532)2.87335618
171interferon-gamma-mediated signaling pathway (GO:0060333)2.85764361
172respiratory burst (GO:0045730)2.84631870
173T cell migration (GO:0072678)2.84431103
174antigen processing and presentation via MHC class Ib (GO:0002475)2.81531275
175positive regulation of myeloid leukocyte mediated immunity (GO:0002888)2.81160368
176regulation of leukocyte degranulation (GO:0043300)2.79409937
177regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.77898877
178positive regulation of macrophage cytokine production (GO:0060907)2.76968154
179T-helper 1 type immune response (GO:0042088)2.75590751
180regulation of B cell differentiation (GO:0045577)2.73823418
181response to muramyl dipeptide (GO:0032495)2.73780932
182leukocyte migration involved in inflammatory response (GO:0002523)2.73043323
183germinal center formation (GO:0002467)2.72134417
184lipopolysaccharide-mediated signaling pathway (GO:0031663)2.71879203
185positive T cell selection (GO:0043368)2.71159584
186cellular response to interleukin-15 (GO:0071350)2.71064293
187regulation of T cell tolerance induction (GO:0002664)2.66611322
188B cell mediated immunity (GO:0019724)2.66550585
189defense response to protozoan (GO:0042832)2.63476561
190negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.62594031
191cellular response to type I interferon (GO:0071357)2.62437007
192type I interferon signaling pathway (GO:0060337)2.62437007
193myeloid leukocyte activation (GO:0002274)2.62413039
194positive regulation of tolerance induction (GO:0002645)2.62206482
195response to type I interferon (GO:0034340)2.61259299
196regulation of T-helper 2 cell differentiation (GO:0045628)2.60968645
197dendritic cell migration (GO:0036336)2.60571805
198positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.58512705
199phagocytosis, engulfment (GO:0006911)2.55236172
200activated T cell proliferation (GO:0050798)2.53974950

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse8.26765237
2* PPARA_22158963_ChIP-Seq_LIVER_Mouse7.08714772
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.92169457
4* LXR_22158963_ChIP-Seq_LIVER_Mouse6.45944630
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.23831005
6FOXP3_17237761_ChIP-ChIP_TREG_Mouse5.02523640
7CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.93955413
8PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.83417337
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse4.06095058
10STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.94874410
11IRF8_21731497_ChIP-ChIP_J774_Mouse3.92100422
12CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.85481288
13BP1_19119308_ChIP-ChIP_Hs578T_Human3.46479810
14* IRF8_27001747_Chip-Seq_BMDM_Mouse3.32819179
15SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.23317335
16SMAD_19615063_ChIP-ChIP_OVARY_Human3.22824974
17MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.16026038
18MYB_21317192_ChIP-Seq_ERMYB_Mouse2.98663359
19STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.92903033
20NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.75800470
21RUNX_20019798_ChIP-Seq_JUKART_Human2.74946241
22IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.55356556
23SCL_19346495_ChIP-Seq_HPC-7_Human2.40285071
24VDR_24787735_ChIP-Seq_THP-1_Human2.27830977
25FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.15322139
26SPI1_23127762_ChIP-Seq_K562_Human2.13197011
27* TCF7L2_21901280_ChIP-Seq_H4IIE_Rat2.03536221
28MYB_26560356_Chip-Seq_TH2_Human2.03083924
29SPI1_23547873_ChIP-Seq_NB4_Human2.02330290
30HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.00148507
31ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.7572395
32TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.97708456
33STAT4_19710469_ChIP-ChIP_TH1__Mouse1.79197762
34VDR_24763502_ChIP-Seq_THP-1_Human1.77003775
35CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.76924135
36BRD4_27068464_Chip-Seq_AML-cells_Mouse1.74139031
37VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.73884192
38PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.73006058
39GATA2_21666600_ChIP-Seq_HMVEC_Human1.72729123
40RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.68126360
41FOXA2_19822575_ChIP-Seq_HepG2_Human1.65418459
42NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.64565631
43SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.63934832
44EGR1_19374776_ChIP-ChIP_THP-1_Human1.61890125
45CLOCK_20551151_ChIP-Seq_293T_Human1.60759896
46MYB_26560356_Chip-Seq_TH1_Human1.57161049
47HTT_18923047_ChIP-ChIP_STHdh_Human1.55766432
48LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.54940719
49GATA3_27048872_Chip-Seq_THYMUS_Human1.53116810
50RUNX1_22412390_ChIP-Seq_EML_Mouse1.52525000
51BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.46759151
52SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.46186789
53GATA1_22025678_ChIP-Seq_K562_Human1.44431486
54* HNF4A_19822575_ChIP-Seq_HepG2_Human1.43141354
55PU_27001747_Chip-Seq_BMDM_Mouse1.41381797
56CDX2_19796622_ChIP-Seq_MESCs_Mouse1.37495400
57GATA3_26560356_Chip-Seq_TH2_Human1.34447062
58MAF_26560356_Chip-Seq_TH1_Human1.31997889
59NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.31826666
60GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.31285290
61PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.28880675
62LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.25091932
63THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.22282061
64STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.20815704
65STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.19949401
66E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.19671684
67CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.17145080
68MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.15042870
69CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.14866876
70RXRA_24833708_ChIP-Seq_LIVER_Mouse1.14494433
71TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.12990425
72CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.10370370
73RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.05610352
74VDR_21846776_ChIP-Seq_THP-1_Human1.05249539
75GATA2_22383799_ChIP-Seq_G1ME_Mouse1.04042457
76SOX2_27498859_Chip-Seq_STOMACH_Mouse1.03431136
77IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.02797951
78UTX_26944678_Chip-Seq_JUKART_Human1.01856985
79TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.01318682
80PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.00730622
81ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.00621902
82ESR1_15608294_ChIP-ChIP_MCF-7_Human1.00238609
83GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.92154621
84TP53_16413492_ChIP-PET_HCT116_Human0.91589317
85FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.90451452
86TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.90390281
87CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.89957467
88GATA4_25053715_ChIP-Seq_YYC3_Human0.89296535
89CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.89088516
90PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.88251567
91TCF7_22412390_ChIP-Seq_EML_Mouse0.87692002
92GATA1_19941827_ChIP-Seq_MEL86_Mouse0.86461025
93PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.85498319
94* CJUN_26792858_Chip-Seq_BT549_Human0.83405969
95SMRT_27268052_Chip-Seq_Bcells_Human0.83250331
96ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.82957428
97AUTS2_25519132_ChIP-Seq_293T-REX_Human0.82188992
98RARG_19884340_ChIP-ChIP_MEFs_Mouse0.82091183
99* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.80891462
100* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.80667520
101ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.80501575
102ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.78745353
103VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.78512153
104TP63_23658742_ChIP-Seq_EP156T_Human0.78383863
105IRF8_22096565_ChIP-ChIP_GC-B_Human0.77491993
106* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.77474877
107CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.76044917
108KAP1_22055183_ChIP-Seq_ESCs_Mouse0.75957623
109ESR2_21235772_ChIP-Seq_MCF-7_Human0.75671276
110* KDM2B_26808549_Chip-Seq_SUP-B15_Human0.75497846
111AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.74560318
112* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.73564646
113PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.73167948
114SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.73123757
115SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.73123757
116SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.72703854
117CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.71820670
118SALL4_18804426_ChIP-ChIP_XEN_Mouse0.71274054
119* BRD4_25478319_ChIP-Seq_HGPS_Human0.70931142
120RARA_24833708_ChIP-Seq_LIVER_Mouse0.70865946
121ZNF263_19887448_ChIP-Seq_K562_Human0.70026081
122SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.69638523
123KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.68690064
124* NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.67208009
125* NRF2_20460467_ChIP-Seq_MEFs_Mouse0.67208009
126CDX2_20551321_ChIP-Seq_CACO-2_Human0.65954378
127NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.61358051
128* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.60919939
129RAD21_21589869_ChIP-Seq_MESCs_Mouse0.60887434
130BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.59954595
131RARB_24833708_ChIP-Seq_LIVER_Mouse0.58534715
132CEBPB_22108803_ChIP-Seq_LS180_Human0.57834861
133FOXA1_25552417_ChIP-Seq_VCAP_Human0.56510301
134TAF15_26573619_Chip-Seq_HEK293_Human0.56243925
135EGR1_19032775_ChIP-ChIP_M12_Human0.56055739
136FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.55307595
137NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.55013825
138ESR1_21235772_ChIP-Seq_MCF-7_Human0.54844916
139PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.53838576
140AR_20517297_ChIP-Seq_VCAP_Human0.52943192
141STAT1_17558387_ChIP-Seq_HELA_Human0.51537567
142FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.51000860
143CBP_21632823_ChIP-Seq_H3396_Human0.50916881
144* MYC_19915707_ChIP-ChIP_AK7_Human0.50798926
145ESET_19884257_ChIP-Seq_ESCs_Mouse0.50619863
146PPAR_26484153_Chip-Seq_NCI-H1993_Human0.50447301
147NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.50245426
148LXR_22292898_ChIP-Seq_THP-1_Human0.48987462
149FOXO3_23340844_ChIP-Seq_DLD1_Human0.48117262
150PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.48008365
151BCAT_22108803_ChIP-Seq_LS180_Human0.47245826
152ESR1_20079471_ChIP-ChIP_T-47D_Human0.47211689
153GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.46990100
154PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.46627518
155GATA6_25053715_ChIP-Seq_YYC3_Human0.45933418
156P53_21459846_ChIP-Seq_SAOS-2_Human0.45506545
157CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.45327733
158STAT3_1855785_ChIP-Seq_MESCs_Mouse0.45041561
159PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.44282547
160GATA2_19941826_ChIP-Seq_K562_Human0.43339211
161* FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.42835465
162TAF2_19829295_ChIP-Seq_ESCs_Human0.41882044
163GATA1_19941826_ChIP-Seq_K562_Human0.41641496
164ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.40691838
165FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.40417534
166SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.40299919
167ERG_21242973_ChIP-ChIP_JURKAT_Human0.39925747
168* SOX2_20726797_ChIP-Seq_SW620_Human0.39721467
169CDX2_22108803_ChIP-Seq_LS180_Human0.39654999
170EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.39189164
171E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse0.38572828
172GATA1_19941827_ChIP-Seq_MEL_Mouse0.38164071
173* SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.37831985
174MYC_27129775_Chip-Seq_CORNEA_Mouse0.37343929
175LUZP1_20508642_ChIP-Seq_ESCs_Mouse0.36111881
176ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.36040819
177FOXH1_21741376_ChIP-Seq_EPCs_Human0.35901605

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.22750367
2MP0005360_urolithiasis7.77724644
3MP0005085_abnormal_gallbladder_physiolo6.48167776
4MP0005365_abnormal_bile_salt6.15905618
5MP0008875_abnormal_xenobiotic_pharmacok5.17140499
6MP0003806_abnormal_nucleotide_metabolis4.14040233
7MP0003252_abnormal_bile_duct4.00648632
8MP0001835_abnormal_antigen_presentation3.62596397
9MP0010329_abnormal_lipoprotein_level3.57778375
10MP0003303_peritoneal_inflammation3.20444744
11MP0009840_abnormal_foam_cell3.17131931
12MP0005083_abnormal_biliary_tract2.97766587
13MP0005332_abnormal_amino_acid2.80872953
14MP0003195_calcinosis2.77308947
15MP0001666_abnormal_nutrient_absorption2.75788009
16MP0002419_abnormal_innate_immunity2.74169430
17MP0003300_gastrointestinal_ulcer2.55525543
18MP0009785_altered_susceptibility_to2.49541869
19MP0000685_abnormal_immune_system2.47550364
20MP0005000_abnormal_immune_tolerance2.46366009
21MP0001800_abnormal_humoral_immune2.41369223
22MP0005671_abnormal_response_to2.41202323
23MP0005025_abnormal_response_to2.33807095
24MP0002148_abnormal_hypersensitivity_rea2.32860961
25MP0001790_abnormal_immune_system2.30544295
26MP0005387_immune_system_phenotype2.30544295
27MP0000569_abnormal_digit_pigmentation2.30042901
28MP0003828_pulmonary_edema2.26573261
29MP0004019_abnormal_vitamin_homeostasis2.20488745
30MP0002452_abnormal_antigen_presenting2.19064435
31MP0003191_abnormal_cellular_cholesterol2.18163726
32MP0002723_abnormal_immune_serum2.17853121
33MP0000609_abnormal_liver_physiology2.14048356
34MP0002118_abnormal_lipid_homeostasis2.10162851
35MP0003763_abnormal_thymus_physiology2.07103927
36MP0002420_abnormal_adaptive_immunity2.01446811
37MP0001819_abnormal_immune_cell1.99230661
38MP0003172_abnormal_lysosome_physiology1.98665278
39MP0002138_abnormal_hepatobiliary_system1.98189623
40MP0001533_abnormal_skeleton_physiology1.93841781
41MP0003868_abnormal_feces_composition1.92294160
42MP0002405_respiratory_system_inflammati1.82221549
43MP0008260_abnormal_autophagy1.81998950
44MP0005319_abnormal_enzyme/_coenzyme1.81697759
45MP0005058_abnormal_lysosome_morphology1.74421969
46MP0006054_spinal_hemorrhage1.74059304
47MP0000465_gastrointestinal_hemorrhage1.70977922
48MP0001764_abnormal_homeostasis1.66043963
49MP0001845_abnormal_inflammatory_respons1.63448609
50MP0009697_abnormal_copulation1.61273489
51MP0010155_abnormal_intestine_physiology1.58383586
52MP0005584_abnormal_enzyme/coenzyme_acti1.56156578
53MP0005164_abnormal_response_to1.54346728
54MP0004947_skin_inflammation1.53940527
55MP0002998_abnormal_bone_remodeling1.51527043
56MP0005397_hematopoietic_system_phenotyp1.51461876
57MP0001545_abnormal_hematopoietic_system1.51461876
58MP0000716_abnormal_immune_system1.49903207
59MP0002398_abnormal_bone_marrow1.48457582
60MP0002166_altered_tumor_susceptibility1.46014123
61MP0008004_abnormal_stomach_pH1.44704926
62MP0005451_abnormal_body_composition1.41459162
63MP0001851_eye_inflammation1.39250302
64MP0000343_altered_response_to1.36506191
65MP0000689_abnormal_spleen_morphology1.30792325
66MP0000858_altered_metastatic_potential1.29187830
67MP0009643_abnormal_urine_homeostasis1.28115333
68MP0003011_delayed_dark_adaptation1.26884242
69MP0001958_emphysema1.25467506
70MP0003186_abnormal_redox_activity1.21651241
71MP0002722_abnormal_immune_system1.20863143
72MP0009278_abnormal_bone_marrow1.20204979
73MP0003656_abnormal_erythrocyte_physiolo1.17149803
74MP0002132_abnormal_respiratory_system1.15858090
75MP0003183_abnormal_peptide_metabolism1.15645246
76MP0009333_abnormal_splenocyte_physiolog1.15386289
77MP0003705_abnormal_hypodermis_morpholog1.15104095
78MP0002429_abnormal_blood_cell1.15038906
79MP0000598_abnormal_liver_morphology1.14835791
80MP0003091_abnormal_cell_migration1.14513652
81MP0003866_abnormal_defecation1.11745771
82MP0005310_abnormal_salivary_gland1.11341786
83MP0003448_altered_tumor_morphology1.09470031
84MP0005647_abnormal_sex_gland1.08955337
85MP0002254_reproductive_system_inflammat1.05573406
86MP0000015_abnormal_ear_pigmentation1.04070123
87MP0009764_decreased_sensitivity_to1.03862247
88MP0000604_amyloidosis1.02509736
89MP0009763_increased_sensitivity_to0.98169720
90MP0002332_abnormal_exercise_endurance0.96397514
91MP0004510_myositis0.95631494
92MP0005636_abnormal_mineral_homeostasis0.93699796
93MP0002006_tumorigenesis0.93530263
94MP0003045_fibrosis0.93051603
95MP0000703_abnormal_thymus_morphology0.92297161
96MP0005670_abnormal_white_adipose0.91252830
97MP0002009_preneoplasia0.90468242
98MP0004808_abnormal_hematopoietic_stem0.88409730
99MP0005084_abnormal_gallbladder_morpholo0.86654842
100MP0010368_abnormal_lymphatic_system0.86366465
101MP0009642_abnormal_blood_homeostasis0.86058641
102MP0003279_aneurysm0.85459912
103MP0008469_abnormal_protein_level0.85339960
104MP0002396_abnormal_hematopoietic_system0.85312271
105MP0005408_hypopigmentation0.83191606
106MP0005390_skeleton_phenotype0.82484705
107MP0002876_abnormal_thyroid_physiology0.82052304
108MP0006036_abnormal_mitochondrial_physio0.79549257
109MP0005376_homeostasis/metabolism_phenot0.79113835
110MP0002078_abnormal_glucose_homeostasis0.78092014
111MP0009765_abnormal_xenobiotic_induced0.77949107
112MP0002133_abnormal_respiratory_system0.76620740
113MP0005388_respiratory_system_phenotype0.76620740
114MP0005174_abnormal_tail_pigmentation0.76159054
115MP0002971_abnormal_brown_adipose0.74945287
116MP0004130_abnormal_muscle_cell0.73094304
117MP0003795_abnormal_bone_structure0.73002086
118MP0005220_abnormal_exocrine_pancreas0.71563620
119MP0002933_joint_inflammation0.71234973
120MP0008438_abnormal_cutaneous_collagen0.71136187
121MP0005334_abnormal_fat_pad0.70980719
122MP0005535_abnormal_body_temperature0.69975354
123MP0001663_abnormal_digestive_system0.69248128
124MP0004484_altered_response_of0.68818887
125MP0001661_extended_life_span0.67042947
126MP0003690_abnormal_glial_cell0.65818062
127MP0000920_abnormal_myelination0.65799690
128MP0005266_abnormal_metabolism0.65564103
129MP0009053_abnormal_anal_canal0.64392183
130MP0005023_abnormal_wound_healing0.64267858
131MP0001756_abnormal_urination0.62976264
132MP0002822_catalepsy0.60789508
133MP0003329_amyloid_beta_deposits0.60749054
134MP0005448_abnormal_energy_balance0.59991328
135MP0000371_diluted_coat_color0.58982800
136MP0000639_abnormal_adrenal_gland0.56928630
137MP0006035_abnormal_mitochondrial_morpho0.56463395
138MP0002136_abnormal_kidney_physiology0.49004433
139MP0002928_abnormal_bile_duct0.46864858
140MP0003638_abnormal_response/metabolism_0.46546092
141MP0005395_other_phenotype0.46145192
142MP0005464_abnormal_platelet_physiology0.45975938
143MP0005666_abnormal_adipose_tissue0.45869139
144MP0008874_decreased_physiological_sensi0.44361765
145MP0004782_abnormal_surfactant_physiolog0.43112119
146MP0008873_increased_physiological_sensi0.42635745
147MP0008872_abnormal_physiological_respon0.41925347
148MP0003718_maternal_effect0.41860569
149MP0003953_abnormal_hormone_level0.41545386
150MP0002837_dystrophic_cardiac_calcinosis0.41275132
151MP0003724_increased_susceptibility_to0.39822894
152MP0005248_abnormal_Harderian_gland0.39112398
153MP0000579_abnormal_nail_morphology0.37869843
154MP0003075_altered_response_to0.37591551
155MP0005166_decreased_susceptibility_to0.37493225
156MP0004381_abnormal_hair_follicle0.37429196
157MP0009384_cardiac_valve_regurgitation0.37211724
158MP0000230_abnormal_systemic_arterial0.35643247
159MP0009115_abnormal_fat_cell0.35573613
160MP0002796_impaired_skin_barrier0.35082794
161MP0003436_decreased_susceptibility_to0.34122023
162MP0009672_abnormal_birth_weight0.33217729
163MP0002168_other_aberrant_phenotype0.31501415
164MP0002970_abnormal_white_adipose0.30340579
165MP0000249_abnormal_blood_vessel0.30093906
166MP0004264_abnormal_extraembryonic_tissu0.29937043
167MP0001881_abnormal_mammary_gland0.28828967
168MP0004043_abnormal_pH_regulation0.28125419
169MP0004883_abnormal_blood_vessel0.27732519
170MP0005167_abnormal_blood-brain_barrier0.27608840
171MP0001853_heart_inflammation0.27352133
172MP0001243_abnormal_dermal_layer0.27142278
173MP0010234_abnormal_vibrissa_follicle0.26830193
174MP0002060_abnormal_skin_morphology0.25730246
175MP0006082_CNS_inflammation0.25294205

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)7.33038659
2Abnormality of aromatic amino acid family metabolism (HP:0004338)7.28770429
3Deep venous thrombosis (HP:0002625)7.25587963
4Abnormality of monocarboxylic acid metabolism (HP:0010996)6.71011670
5Hypobetalipoproteinemia (HP:0003563)6.52058484
6Prolonged partial thromboplastin time (HP:0003645)6.41770622
7Xanthomatosis (HP:0000991)6.27573426
8Recurrent bacterial skin infections (HP:0005406)5.52362543
9Complement deficiency (HP:0004431)5.40915597
10Hyperlipoproteinemia (HP:0010980)5.40843850
11Eczematoid dermatitis (HP:0000976)5.33038898
12Recurrent abscess formation (HP:0002722)5.26900487
13Hypolipoproteinemia (HP:0010981)4.80566045
14Hyperammonemia (HP:0001987)4.67046439
15Joint hemorrhage (HP:0005261)4.67016080
16Myositis (HP:0100614)4.65157823
17Epidermoid cyst (HP:0200040)4.63663008
18Orchitis (HP:0100796)4.52254188
19Abnormality of glutamine family amino acid metabolism (HP:0010902)4.44356249
20Hyperglycinemia (HP:0002154)4.44073356
21Optic neuritis (HP:0100653)4.42444867
22Retrobulbar optic neuritis (HP:0100654)4.42444867
23Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.39484116
24Abnormality of macrophages (HP:0004311)4.39464613
25Abnormality of the common coagulation pathway (HP:0010990)4.37845674
26Abnormality of sulfur amino acid metabolism (HP:0004339)4.30154478
27Ketosis (HP:0001946)4.29149536
28Abnormality of methionine metabolism (HP:0010901)4.24954557
29Fat malabsorption (HP:0002630)4.24039563
30Abnormality of aspartate family amino acid metabolism (HP:0010899)4.23350170
31Hyperglycinuria (HP:0003108)4.12520330
32Hypoalphalipoproteinemia (HP:0003233)4.09257440
33Abnormality of serine family amino acid metabolism (HP:0010894)4.04336279
34Abnormality of glycine metabolism (HP:0010895)4.04336279
35Conjugated hyperbilirubinemia (HP:0002908)3.92659462
36Abnormality of complement system (HP:0005339)3.92210803
37Hypoglycemic coma (HP:0001325)3.87784955
38Elevated erythrocyte sedimentation rate (HP:0003565)3.85009900
39T lymphocytopenia (HP:0005403)3.80088214
40Recurrent skin infections (HP:0001581)3.75071496
41Stomatitis (HP:0010280)3.72581656
42Abnormality of the intrinsic pathway (HP:0010989)3.68653319
43Hypercholesterolemia (HP:0003124)3.67331466
44Abnormality of T cell number (HP:0011839)3.66046831
45Spontaneous hematomas (HP:0007420)3.56328523
46Recurrent fungal infections (HP:0002841)3.55360756
47Gastrointestinal infarctions (HP:0005244)3.53856373
48Abnormality of glycolipid metabolism (HP:0010969)3.42988248
49Abnormality of liposaccharide metabolism (HP:0010968)3.42988248
50Abnormality of glycosphingolipid metabolism (HP:0004343)3.42988248
51Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.39952276
52Abnormality of fatty-acid metabolism (HP:0004359)3.38219250
53Gingivitis (HP:0000230)3.38119787
54Hyperbilirubinemia (HP:0002904)3.33116488
55Chronic mucocutaneous candidiasis (HP:0002728)3.30671189
56Recurrent cutaneous fungal infections (HP:0011370)3.30671189
57Prolonged bleeding time (HP:0003010)3.28296391
58Keratoconjunctivitis sicca (HP:0001097)3.26446737
59Mediastinal lymphadenopathy (HP:0100721)3.25984467
60Epistaxis (HP:0000421)3.19233698
61Delayed CNS myelination (HP:0002188)3.12337734
62Ketoacidosis (HP:0001993)3.11785400
63Keratoconjunctivitis (HP:0001096)3.11306274
64Peritonitis (HP:0002586)3.10999327
65Steatorrhea (HP:0002570)3.10988484
66Abnormality of serum amino acid levels (HP:0003112)3.07906216
67* Abnormality of pyrimidine metabolism (HP:0004353)3.04687381
68Meningitis (HP:0001287)2.97691368
69Pulmonary infiltrates (HP:0002113)2.97131710
70Hepatocellular carcinoma (HP:0001402)2.95982820
71Arterial thrombosis (HP:0004420)2.95331311
72Vasculitis (HP:0002633)2.94154859
73Spontaneous abortion (HP:0005268)2.93180961
74Hemoptysis (HP:0002105)2.90853710
75Myocardial infarction (HP:0001658)2.90407333
76Skin nodule (HP:0200036)2.87341699
77* Abnormality of nucleobase metabolism (HP:0010932)2.86095855
78Abnormal delayed hypersensitivity skin test (HP:0002963)2.84695640
79Hypochromic microcytic anemia (HP:0004840)2.84591595
80Metabolic acidosis (HP:0001942)2.81208678
81Chest pain (HP:0100749)2.79123174
82Encephalitis (HP:0002383)2.79015877
83Obstructive lung disease (HP:0006536)2.78590451
84Chronic obstructive pulmonary disease (HP:0006510)2.78590451
85Acanthocytosis (HP:0001927)2.77652944
86Abnormality of purine metabolism (HP:0004352)2.77645162
87Leukocytosis (HP:0001974)2.75208335
88Systemic lupus erythematosus (HP:0002725)2.72416814
89Recurrent viral infections (HP:0004429)2.71355132
90Dysostosis multiplex (HP:0000943)2.64231968
91Urticaria (HP:0001025)2.61779943
92Dicarboxylic aciduria (HP:0003215)2.59662555
93Abnormality of dicarboxylic acid metabolism (HP:0010995)2.59662555
94Vascular calcification (HP:0004934)2.59008548
95Increased cerebral lipofuscin (HP:0011813)2.57874558
96Pulmonary embolism (HP:0002204)2.56335082
97* Lethargy (HP:0001254)2.52032348
98Gout (HP:0001997)2.51183049
99Purpura (HP:0000979)2.49526021
100Hypoglycemic seizures (HP:0002173)2.48260956
101Spastic diplegia (HP:0001264)2.46554810
102Cerebral edema (HP:0002181)2.45365114
103Abnormal gallbladder morphology (HP:0012437)2.43422761
104Glomerulonephritis (HP:0000099)2.41812914
105Abnormality of T cells (HP:0002843)2.41046003
106Abnormal platelet volume (HP:0011876)2.38654744
107Malnutrition (HP:0004395)2.38442518
108Irritability (HP:0000737)2.37098991
109Cholelithiasis (HP:0001081)2.36672844
110Mitral stenosis (HP:0001718)2.34951390
111Cellulitis (HP:0100658)2.34843406
112Neonatal onset (HP:0003623)2.33929990
113Abnormal gallbladder physiology (HP:0012438)2.32957950
114Cholecystitis (HP:0001082)2.32957950
115Abnormality of the vasculature of the conjunctiva (HP:0008054)2.32316256
116Autoimmune thrombocytopenia (HP:0001973)2.31465882
117Cardiovascular calcification (HP:0011915)2.29895984
118Recurrent gram-negative bacterial infections (HP:0005420)2.27965106
119Inflammation of the large intestine (HP:0002037)2.24517047
120Petechiae (HP:0000967)2.23602319
121Amyloidosis (HP:0011034)2.22919982
122Pustule (HP:0200039)2.22262775
123Gangrene (HP:0100758)2.21718347
124Esophageal varix (HP:0002040)2.20546634
125Sensorimotor neuropathy (HP:0007141)2.18831365
126Autoimmune hemolytic anemia (HP:0001890)2.17028803
127Pancreatitis (HP:0001733)2.16730643
128Vacuolated lymphocytes (HP:0001922)2.16318906
129Periodontitis (HP:0000704)2.15538119
130Anorexia (HP:0002039)2.13235436
131Hematochezia (HP:0002573)2.12471836
132Gingival bleeding (HP:0000225)2.11925501
133Enlarged kidneys (HP:0000105)2.11664481
134Late onset (HP:0003584)2.11243923
135Brushfield spots (HP:0001088)2.11007162
136Eosinophilia (HP:0001880)2.10715700
137Generalized aminoaciduria (HP:0002909)2.09732711
138Vomiting (HP:0002013)2.09691825
139Mucopolysacchariduria (HP:0008155)2.09043623
140Urinary glycosaminoglycan excretion (HP:0003541)2.09043623
141Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.08959081
142Granulocytopenia (HP:0001913)2.08723147
143Abnormality of the peritoneum (HP:0002585)2.08025936
144Colitis (HP:0002583)2.07850096
145Osteomyelitis (HP:0002754)2.07648929
146Abnormality of mucopolysaccharide metabolism (HP:0011020)2.07507622
147Abnormality of polysaccharide metabolism (HP:0011012)2.07507622
148Abnormality of glycosaminoglycan metabolism (HP:0004371)2.07507622
149Menorrhagia (HP:0000132)2.07335328
150Increased mean platelet volume (HP:0011877)2.07292713
151Poikilocytosis (HP:0004447)2.07284264
152Episodic fever (HP:0001954)2.06475298
153Conjunctival telangiectasia (HP:0000524)2.05628900
154Abnormality of proline metabolism (HP:0010907)2.05618380
155Hydroxyprolinuria (HP:0003080)2.05618380
156Increased neuronal autofluorescent lipopigment (HP:0002074)2.03937424
157Gastrointestinal inflammation (HP:0004386)2.03438679
158Glomerulopathy (HP:0100820)2.01799276
159Hyperinsulinemic hypoglycemia (HP:0000825)2.01582554
160Recurrent bronchitis (HP:0002837)2.00973090
161Disinhibition (HP:0000734)2.00491555
162Thrombophlebitis (HP:0004418)1.98843359
163Abnormality of the gallbladder (HP:0005264)1.98154943
164Opisthotonus (HP:0002179)1.97830519
165Abnormality of the pleura (HP:0002103)1.97161564
166Spondylolisthesis (HP:0003302)1.96669480
167Interstitial pulmonary disease (HP:0006530)1.96582969
168Rickets (HP:0002748)1.96503489
169Hemorrhage of the eye (HP:0011885)1.96296279
170Alkalosis (HP:0001948)1.93483026
171Vertigo (HP:0002321)1.92888974
172Loss of speech (HP:0002371)1.92434842
173Increased IgE level (HP:0003212)1.91698719
174Abnormal cartilage morphology (HP:0002763)1.90044999
175Renal cortical cysts (HP:0000803)1.87044027
176Slow saccadic eye movements (HP:0000514)1.86207074
177Polyneuropathy (HP:0001271)1.85797207
178Abnormality of the endocardium (HP:0004306)1.85431408
179Abnormality of transition element cation homeostasis (HP:0011030)1.84946181
180Joint swelling (HP:0001386)1.84515808
181Abnormality of iron homeostasis (HP:0011031)1.84450816
182Fatigue (HP:0012378)1.84067188
183Abnormal enzyme/coenzyme activity (HP:0012379)1.83801286
184Hypophosphatemic rickets (HP:0004912)1.82321458
185Abnormality of vitamin metabolism (HP:0100508)1.82211826
186Subacute progressive viral hepatitis (HP:0006572)1.81990898
187Elevated hepatic transaminases (HP:0002910)1.81262523
188Hyperglycemia (HP:0003074)1.77867878
189Proximal tubulopathy (HP:0000114)1.77460640
190Status epilepticus (HP:0002133)1.76587389

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.89185874
2SIK14.51053775
3FGFR44.44684914
4ERN14.22388858
5RIPK43.75088633
6BLK3.74153055
7INSRR3.25152210
8TAOK33.06339715
9ERBB42.95042979
10MST1R2.40324062
11FES2.38264510
12MAP2K42.32993241
13MAP4K12.29621157
14JAK32.18406576
15PKN22.13624601
16ZAP702.10893374
17IRAK42.07458180
18TXK1.99833468
19FRK1.95759558
20SYK1.94911290
21CAMKK21.92122115
22MAPK111.89362589
23PRPF4B1.86403386
24PIK3CG1.81583057
25BTK1.81080261
26LATS11.80976474
27TEC1.80953050
28FLT31.77859482
29FGR1.70137918
30BMPR21.64574853
31TRIB31.64131955
32HCK1.63920505
33KIT1.63060699
34TYK21.57476901
35PTK61.53090289
36FGFR21.48608482
37DAPK21.46162797
38ABL21.40713181
39NEK91.37588978
40YES11.34072814
41LYN1.31484764
42MAP3K71.28099356
43ITK1.27262821
44PRKAA21.25574847
45LCK1.22808153
46JAK21.19590845
47GRK61.19399547
48KDR1.10984596
49PINK11.09510641
50ERBB21.09495986
51ACVR1B1.04224629
52IKBKB1.04219489
53MAP3K101.03839333
54JAK11.02697306
55GRK70.97653884
56MAPK40.96152961
57TBK10.95938609
58STK38L0.93369415
59MET0.92869077
60MAP3K140.92788527
61PRKCZ0.92225285
62CAMK1D0.89232314
63EPHB10.88772127
64PTK2B0.88625157
65MAP2K30.88618949
66EPHA30.87700073
67MATK0.84963770
68MAPK150.84578063
69MAP3K30.82367559
70TNK20.81429543
71MARK30.81378739
72RIPK10.80158900
73TRPM70.80126678
74IRAK20.78405374
75PRKACG0.77321276
76CDK60.75918875
77PRKAA10.73840705
78STK100.73566199
79CAMK2G0.73167277
80MAPK120.72455060
81CAMKK10.72390448
82SGK30.72246482
83GSK3A0.70034044
84TIE10.68228688
85CSK0.67465030
86PDGFRB0.66214422
87DYRK1B0.65878969
88MAP2K60.65683030
89NLK0.64355225
90TTN0.64157540
91CLK10.62897491
92IRAK30.62756450
93FGFR30.62748260
94FYN0.62054798
95MAP3K110.61921626
96MARK20.58818589
97PTK20.58559873
98MOS0.57651390
99KSR20.56987826
100GRK10.56464076
101SGK20.54898044
102MAPK70.54509632
103PDPK10.54347455
104PIM10.54077081
105HIPK20.53213146
106CDC42BPA0.53152018
107PRKCQ0.51927289
108ABL10.50546283
109EPHA40.50356410
110LRRK20.49742155
111TGFBR20.49131750
112CSF1R0.48312043
113RET0.47760490
114IGF1R0.46931142
115MAP2K10.46922888
116CSNK1G10.46786400
117IKBKE0.46700313
118STK380.44826997
119TAOK10.44325850
120ADRBK10.43044039
121SGK2230.42150550
122SGK4940.42150550
123PDK30.40737558
124PDK40.40737558
125WNK10.40611549
126SIK30.40055116
127GRK50.39763624
128MELK0.39136794
129PKN10.39090813
130PIK3CA0.38835597
131MAP3K50.38823162
132AKT30.38646416
133PRKD20.37828764
134CAMK1G0.37605997
135PRKCG0.36288989
136PRKD10.35988735
137MAPKAPK20.35799430
138MAP3K130.35790773
139STK110.35354115
140TAOK20.34810078
141ICK0.34691999
142MTOR0.34384121
143MAP3K20.33670316
144PDK10.33156533
145MAP3K60.33063672
146CDK40.32521572
147EGFR0.31967239
148CAMK40.29166589
149MAP3K10.29119437
150PBK0.28953037
151PRKCA0.28462690
152MAP2K20.28041613
153PAK30.27668708
154CSNK1G20.26460746
155LATS20.26047603
156IRAK10.25180789

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.47274526
2Nitrogen metabolism_Homo sapiens_hsa009103.66740468
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.39030883
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.35975087
5Arginine biosynthesis_Homo sapiens_hsa002203.08646390
6Leishmaniasis_Homo sapiens_hsa051402.81537394
7Tryptophan metabolism_Homo sapiens_hsa003802.72116985
8Complement and coagulation cascades_Homo sapiens_hsa046102.67857728
9Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.65122190
10Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.59896796
11Osteoclast differentiation_Homo sapiens_hsa043802.56611346
12Fatty acid degradation_Homo sapiens_hsa000712.51545021
13Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.50530710
14Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.41435970
15Pentose and glucuronate interconversions_Homo sapiens_hsa000402.28632570
16Allograft rejection_Homo sapiens_hsa053302.23289619
17Graft-versus-host disease_Homo sapiens_hsa053322.21322713
18Butanoate metabolism_Homo sapiens_hsa006502.14984885
19Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.14554139
20Peroxisome_Homo sapiens_hsa041462.08038813
21Tuberculosis_Homo sapiens_hsa051522.05193912
22Autoimmune thyroid disease_Homo sapiens_hsa053202.02315306
23Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.01569799
24Propanoate metabolism_Homo sapiens_hsa006401.98003638
25Steroid hormone biosynthesis_Homo sapiens_hsa001401.93156589
26Histidine metabolism_Homo sapiens_hsa003401.92980727
27Chemical carcinogenesis_Homo sapiens_hsa052041.92935898
28Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.91527433
29PPAR signaling pathway_Homo sapiens_hsa033201.90274806
30Toll-like receptor signaling pathway_Homo sapiens_hsa046201.90240884
31Caffeine metabolism_Homo sapiens_hsa002321.87403635
32B cell receptor signaling pathway_Homo sapiens_hsa046621.86194481
33NOD-like receptor signaling pathway_Homo sapiens_hsa046211.83842456
34Malaria_Homo sapiens_hsa051441.83601106
35Fatty acid metabolism_Homo sapiens_hsa012121.81508888
36Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.73884877
37Asthma_Homo sapiens_hsa053101.73579681
38Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.73214160
39Retinol metabolism_Homo sapiens_hsa008301.70053965
40Hematopoietic cell lineage_Homo sapiens_hsa046401.69477595
41Staphylococcus aureus infection_Homo sapiens_hsa051501.68167680
42NF-kappa B signaling pathway_Homo sapiens_hsa040641.61486119
43* Drug metabolism - other enzymes_Homo sapiens_hsa009831.58045831
44Toxoplasmosis_Homo sapiens_hsa051451.58024806
45Intestinal immune network for IgA production_Homo sapiens_hsa046721.57406776
46Phenylalanine metabolism_Homo sapiens_hsa003601.56516913
47Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.56113922
48Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.55909447
49Platelet activation_Homo sapiens_hsa046111.55525314
502-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.55450249
51* beta-Alanine metabolism_Homo sapiens_hsa004101.55391527
52Type I diabetes mellitus_Homo sapiens_hsa049401.55204266
53Bile secretion_Homo sapiens_hsa049761.55045618
54Selenocompound metabolism_Homo sapiens_hsa004501.54599505
55Phagosome_Homo sapiens_hsa041451.51984769
56Measles_Homo sapiens_hsa051621.47058316
57Pertussis_Homo sapiens_hsa051331.45455534
58Legionellosis_Homo sapiens_hsa051341.45308966
59Other glycan degradation_Homo sapiens_hsa005111.44900262
60Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.43505103
61Chemokine signaling pathway_Homo sapiens_hsa040621.43334909
62Tyrosine metabolism_Homo sapiens_hsa003501.42539930
63Antigen processing and presentation_Homo sapiens_hsa046121.40895683
64Sulfur metabolism_Homo sapiens_hsa009201.40542021
65T cell receptor signaling pathway_Homo sapiens_hsa046601.39497986
66Pyruvate metabolism_Homo sapiens_hsa006201.39353840
67Starch and sucrose metabolism_Homo sapiens_hsa005001.37481763
68Primary immunodeficiency_Homo sapiens_hsa053401.37344977
69Rheumatoid arthritis_Homo sapiens_hsa053231.36313291
70* Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.35323620
71Viral myocarditis_Homo sapiens_hsa054161.34032837
72TNF signaling pathway_Homo sapiens_hsa046681.33611174
73Influenza A_Homo sapiens_hsa051641.32678157
74Lysosome_Homo sapiens_hsa041421.32378050
75Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.32031155
76Jak-STAT signaling pathway_Homo sapiens_hsa046301.30727317
77Fatty acid elongation_Homo sapiens_hsa000621.30586434
78Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.30268957
79RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.29575177
80Cysteine and methionine metabolism_Homo sapiens_hsa002701.28756014
81Fat digestion and absorption_Homo sapiens_hsa049751.28728039
82ABC transporters_Homo sapiens_hsa020101.23136506
83Folate biosynthesis_Homo sapiens_hsa007901.21166381
84Biosynthesis of amino acids_Homo sapiens_hsa012301.19502972
85Steroid biosynthesis_Homo sapiens_hsa001001.16587092
86Acute myeloid leukemia_Homo sapiens_hsa052211.15974967
87Carbon metabolism_Homo sapiens_hsa012001.14286950
88Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.06368049
89Maturity onset diabetes of the young_Homo sapiens_hsa049501.03992800
90Leukocyte transendothelial migration_Homo sapiens_hsa046701.03719047
91Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.01608723
92Hepatitis B_Homo sapiens_hsa051611.01088105
93Dorso-ventral axis formation_Homo sapiens_hsa043201.00225572
94Herpes simplex infection_Homo sapiens_hsa051681.00224635
95Cyanoamino acid metabolism_Homo sapiens_hsa004600.99864517
96Non-small cell lung cancer_Homo sapiens_hsa052230.99644017
97Arginine and proline metabolism_Homo sapiens_hsa003300.97554511
98Vitamin digestion and absorption_Homo sapiens_hsa049770.95455954
99AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.95437155
100Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.93536880
101Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.93427331
102Pancreatic cancer_Homo sapiens_hsa052120.91360374
103Shigellosis_Homo sapiens_hsa051310.90036031
104Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.88862173
105Vitamin B6 metabolism_Homo sapiens_hsa007500.88740698
106Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.88326178
107Sulfur relay system_Homo sapiens_hsa041220.86488563
108Salmonella infection_Homo sapiens_hsa051320.83576700
109Lysine degradation_Homo sapiens_hsa003100.83327554
110Apoptosis_Homo sapiens_hsa042100.79302185
111SNARE interactions in vesicular transport_Homo sapiens_hsa041300.77377174
112Chronic myeloid leukemia_Homo sapiens_hsa052200.77187350
113Prolactin signaling pathway_Homo sapiens_hsa049170.76324403
114Glycerolipid metabolism_Homo sapiens_hsa005610.72832723
115Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.71938109
116Glutathione metabolism_Homo sapiens_hsa004800.67429100
117Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.67394437
118One carbon pool by folate_Homo sapiens_hsa006700.67252777
119Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.66195938
120Sphingolipid signaling pathway_Homo sapiens_hsa040710.65186487
121Neurotrophin signaling pathway_Homo sapiens_hsa047220.64013570
122Phosphatidylinositol signaling system_Homo sapiens_hsa040700.63945871
123Renal cell carcinoma_Homo sapiens_hsa052110.63076494
124FoxO signaling pathway_Homo sapiens_hsa040680.62609653
125Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.60605056
126VEGF signaling pathway_Homo sapiens_hsa043700.59769422
127Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.59216226
128Fatty acid biosynthesis_Homo sapiens_hsa000610.57833308
129Phospholipase D signaling pathway_Homo sapiens_hsa040720.57703863
130Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.56585326
131Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.56131731
132Pentose phosphate pathway_Homo sapiens_hsa000300.55413692
133GnRH signaling pathway_Homo sapiens_hsa049120.53062152
134Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.51815564
135Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.50356761
136Transcriptional misregulation in cancer_Homo sapiens_hsa052020.49222081
137Inositol phosphate metabolism_Homo sapiens_hsa005620.48798867
138Endocytosis_Homo sapiens_hsa041440.48600021
139Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.46968916
140mTOR signaling pathway_Homo sapiens_hsa041500.46182682
141* Metabolic pathways_Homo sapiens_hsa011000.45584758
142Regulation of actin cytoskeleton_Homo sapiens_hsa048100.45346973
143Renin secretion_Homo sapiens_hsa049240.44399339
144Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.44372704
145HIF-1 signaling pathway_Homo sapiens_hsa040660.43254252
146Choline metabolism in cancer_Homo sapiens_hsa052310.41592325
147Endometrial cancer_Homo sapiens_hsa052130.39286492
148Focal adhesion_Homo sapiens_hsa045100.38204073
149Viral carcinogenesis_Homo sapiens_hsa052030.35697705
150Prion diseases_Homo sapiens_hsa050200.34641873
151Galactose metabolism_Homo sapiens_hsa000520.33176246
152Proteoglycans in cancer_Homo sapiens_hsa052050.32948281
153MAPK signaling pathway_Homo sapiens_hsa040100.32144398
154Type II diabetes mellitus_Homo sapiens_hsa049300.31875417
155Fructose and mannose metabolism_Homo sapiens_hsa000510.27835714
156alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.25027441
157Insulin resistance_Homo sapiens_hsa049310.24746589
158Adipocytokine signaling pathway_Homo sapiens_hsa049200.23567669
159Linoleic acid metabolism_Homo sapiens_hsa005910.20777670
160Glycerophospholipid metabolism_Homo sapiens_hsa005640.17448720
161Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.16852784
162Glucagon signaling pathway_Homo sapiens_hsa049220.11293476
163AMPK signaling pathway_Homo sapiens_hsa041520.03839974
164Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.2302005
165Amoebiasis_Homo sapiens_hsa05146-0.2297883
166Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.2133285
167Protein digestion and absorption_Homo sapiens_hsa04974-0.2095985
168Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.2084305
169Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1778117
170Mineral absorption_Homo sapiens_hsa04978-0.1723117
171Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.1710598
172Hepatitis C_Homo sapiens_hsa05160-0.1667234
173Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1573588
174African trypanosomiasis_Homo sapiens_hsa05143-0.1537436
175Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1535938
176Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1490851
177Regulation of autophagy_Homo sapiens_hsa04140-0.1457621
178Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.1179609
179Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1007785
180Insulin signaling pathway_Homo sapiens_hsa04910-0.0845148
181Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa00520-0.0711355
182Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0560055
183Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0387706
184Renin-angiotensin system_Homo sapiens_hsa04614-0.0378005

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