UPP1

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





Description: This gene encodes a uridine phosphorylase, an enzyme that catalyzes the reversible phosphorylation of uridine (or 2'- deoxyuridine) to uracil and ribose-1-phosphate (or deoxyribose-1-phosphate). The encoded enzyme functions in the degradation and salvage of pyrimidine ribonucleosides. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of gene silencing by RNA (GO:0060966)5.41669340
2regulation of posttranscriptional gene silencing (GO:0060147)5.41669340
3regulation of gene silencing by miRNA (GO:0060964)5.41669340
4regulation of helicase activity (GO:0051095)4.86785402
5response to peptidoglycan (GO:0032494)4.76815053
6negative regulation of interleukin-12 production (GO:0032695)4.61849351
7regulation of vitamin D biosynthetic process (GO:0060556)4.61594101
8folic acid-containing compound biosynthetic process (GO:0009396)4.55747219
9neutrophil activation involved in immune response (GO:0002283)4.55556206
10formation of translation preinitiation complex (GO:0001731)4.48974644
11nucleobase biosynthetic process (GO:0046112)4.46563458
12purine nucleobase biosynthetic process (GO:0009113)4.27346067
13nuclear pore organization (GO:0006999)4.23778696
14ribosome assembly (GO:0042255)4.19910656
15somatic diversification of immune receptors via somatic mutation (GO:0002566)4.18682475
16somatic hypermutation of immunoglobulin genes (GO:0016446)4.18682475
17DNA replication-dependent nucleosome assembly (GO:0006335)4.18148958
18DNA replication-dependent nucleosome organization (GO:0034723)4.18148958
19DNA replication initiation (GO:0006270)4.12123789
20hemidesmosome assembly (GO:0031581)4.07516506
21lipopolysaccharide-mediated signaling pathway (GO:0031663)4.06756487
22mitotic metaphase plate congression (GO:0007080)4.01082991
23maturation of SSU-rRNA (GO:0030490)4.00419382
24IMP biosynthetic process (GO:0006188)4.00099660
25macrophage activation involved in immune response (GO:0002281)3.91905707
26modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.89265087
27modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.89265087
28positive regulation by organism of defense response of other organism involved in symbiotic interact3.89265087
29modulation by symbiont of host immune response (GO:0052553)3.89265087
30positive regulation by symbiont of host defense response (GO:0052509)3.89265087
31modulation by symbiont of host defense response (GO:0052031)3.89265087
32mitotic nuclear envelope disassembly (GO:0007077)3.88345800
33DNA strand elongation involved in DNA replication (GO:0006271)3.88053339
34determination of adult lifespan (GO:0008340)3.84932185
35nuclear pore complex assembly (GO:0051292)3.81280853
36protein localization to kinetochore (GO:0034501)3.74702256
37NIK/NF-kappaB signaling (GO:0038061)3.72466249
38leukocyte aggregation (GO:0070486)3.69506126
39DNA strand elongation (GO:0022616)3.68766567
40granulocyte activation (GO:0036230)3.62648394
41nuclear envelope disassembly (GO:0051081)3.61712377
42membrane disassembly (GO:0030397)3.61712377
43ribosome biogenesis (GO:0042254)3.60846263
44anterior/posterior axis specification, embryo (GO:0008595)3.59145324
45DNA replication checkpoint (GO:0000076)3.57530063
46regulation of podosome assembly (GO:0071801)3.57358419
47positive regulation of chemokine biosynthetic process (GO:0045080)3.55744046
48DNA unwinding involved in DNA replication (GO:0006268)3.51346752
49ribosomal large subunit biogenesis (GO:0042273)3.48078914
50telomere maintenance via semi-conservative replication (GO:0032201)3.42543606
51ribonucleoprotein complex biogenesis (GO:0022613)3.41562342
52ribosomal small subunit assembly (GO:0000028)3.40779854
53IMP metabolic process (GO:0046040)3.39305568
54metaphase plate congression (GO:0051310)3.39287741
55positive regulation of SMAD protein import into nucleus (GO:0060391)3.39068370
56regulation of vitamin metabolic process (GO:0030656)3.37409143
57heterochromatin organization (GO:0070828)3.37229184
58positive regulation of NF-kappaB import into nucleus (GO:0042346)3.34114279
59regulation of nuclear cell cycle DNA replication (GO:0033262)3.33102623
60positive regulation of membrane protein ectodomain proteolysis (GO:0051044)3.32516341
61protein K6-linked ubiquitination (GO:0085020)3.32285594
62myeloid dendritic cell differentiation (GO:0043011)3.29502477
63positive regulation of monocyte chemotaxis (GO:0090026)3.29370114
64regulation of chemokine biosynthetic process (GO:0045073)3.27242825
65negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.27115584
66negative regulation of cell killing (GO:0031342)3.27115584
67response to muramyl dipeptide (GO:0032495)3.25357097
68regulation of histone H3-K9 methylation (GO:0051570)3.23242958
69positive regulation of gamma-delta T cell activation (GO:0046645)3.22670036
70positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.21874094
71regulation of chronic inflammatory response (GO:0002676)3.19557892
72detection of other organism (GO:0098543)3.17456043
73nodal signaling pathway (GO:0038092)3.16890739
74regulation of interferon-beta biosynthetic process (GO:0045357)3.16599301
75translational termination (GO:0006415)3.16317515
76negative regulation of histone methylation (GO:0031061)3.15757252
77viral transcription (GO:0019083)3.15452259
78regulation of gene silencing (GO:0060968)3.14607882
79ribosomal small subunit biogenesis (GO:0042274)3.14265455
80immunoglobulin mediated immune response (GO:0016064)3.12414324
81histone H4-K12 acetylation (GO:0043983)3.12001149
82antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.11143492
83telomere maintenance via recombination (GO:0000722)3.11043626
84DNA geometric change (GO:0032392)3.10989284
85neutrophil activation (GO:0042119)3.09988866
86protein localization to endosome (GO:0036010)3.09810888
87DNA duplex unwinding (GO:0032508)3.09665698
88translational initiation (GO:0006413)3.09643608
89cellular response to type I interferon (GO:0071357)3.07737364
90type I interferon signaling pathway (GO:0060337)3.07737364
91myeloid cell activation involved in immune response (GO:0002275)3.07466556
92intestinal epithelial cell development (GO:0060576)3.05587525
93negative regulation of gene silencing (GO:0060969)3.03663055
94response to type I interferon (GO:0034340)3.03553769
95establishment of chromosome localization (GO:0051303)3.03193524
96establishment of integrated proviral latency (GO:0075713)3.02600227
97negative regulation of inflammatory response to antigenic stimulus (GO:0002862)3.02263002
98detection of bacterium (GO:0016045)3.01350257
99telomere maintenance via telomere lengthening (GO:0010833)3.01084931
100antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.99895448
101paraxial mesoderm development (GO:0048339)2.99756009
102chromatin remodeling at centromere (GO:0031055)2.99570910
103regulation of telomere maintenance via telomerase (GO:0032210)2.98416225
104regulation of membrane protein ectodomain proteolysis (GO:0051043)2.98398199
105response to protozoan (GO:0001562)2.97912426
106T-helper 1 type immune response (GO:0042088)2.97438343
107pore complex assembly (GO:0046931)2.96457286
108rRNA processing (GO:0006364)2.96089148
109mitotic recombination (GO:0006312)2.95948957
110regulation of spindle organization (GO:0090224)2.95774163
111positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.95708982
112protein localization to chromosome, centromeric region (GO:0071459)2.95045628
113negative regulation of cytokine production involved in immune response (GO:0002719)2.93703513
114defense response to protozoan (GO:0042832)2.93667319
115translational elongation (GO:0006414)2.92328181
116regulation of mitotic spindle organization (GO:0060236)2.91452869
117establishment of apical/basal cell polarity (GO:0035089)2.90918479
118cellular extravasation (GO:0045123)2.90632064
119monocyte chemotaxis (GO:0002548)2.90245969
120interferon-gamma-mediated signaling pathway (GO:0060333)2.90151896
121cellular response to zinc ion (GO:0071294)2.90125433
122histone arginine methylation (GO:0034969)2.89974196
123glycosphingolipid catabolic process (GO:0046479)2.88729665
124regulation of translational fidelity (GO:0006450)2.88163466
125negative regulation of androgen receptor signaling pathway (GO:0060766)2.87820942
126regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.87662283
127antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.86301817
128pteridine-containing compound biosynthetic process (GO:0042559)2.85985523
129rRNA metabolic process (GO:0016072)2.85865300
130mismatch repair (GO:0006298)2.85394337
131pre-miRNA processing (GO:0031054)2.84686757
132regulation of translation in response to stress (GO:0043555)2.83669451
133antigen processing and presentation of endogenous antigen (GO:0019883)2.83405670
134positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.83392258
135regulation of cytokine secretion involved in immune response (GO:0002739)2.82785196
136germinal center formation (GO:0002467)2.82264903
137nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)2.81117766
138negative regulation of nitric oxide biosynthetic process (GO:0045019)2.80487810
139positive regulation of interleukin-6 production (GO:0032755)2.80439738
140negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.79686952
141rRNA modification (GO:0000154)2.79667231
142regulation of mast cell degranulation (GO:0043304)2.79601587
143myeloid dendritic cell activation (GO:0001773)2.78912941
144regulation of SMAD protein import into nucleus (GO:0060390)2.78652662
145regulation of T cell tolerance induction (GO:0002664)2.78616817
146folic acid metabolic process (GO:0046655)2.77794139
147mitotic sister chromatid segregation (GO:0000070)2.77417277
148CENP-A containing nucleosome assembly (GO:0034080)2.76992371
149macrophage activation (GO:0042116)2.76730324
150activation of MAPKKK activity (GO:0000185)2.76381423
151amino sugar catabolic process (GO:0046348)2.75136128
152spliceosomal snRNP assembly (GO:0000387)2.74737504
153positive regulation of chromosome segregation (GO:0051984)2.74436945
154transcription-coupled nucleotide-excision repair (GO:0006283)2.74150511
155negative regulation of T cell mediated immunity (GO:0002710)2.73041561
156positive regulation of hair follicle development (GO:0051798)2.72673337
157positive regulation of hair cycle (GO:0042635)2.72673337
158detection of molecule of bacterial origin (GO:0032490)2.72193663
159cellular response to arsenic-containing substance (GO:0071243)2.71914101
160regulation of interleukin-6 production (GO:0032675)2.71631204
161tetrahydrofolate metabolic process (GO:0046653)2.71226273
162respiratory burst (GO:0045730)2.70473733
163regulation of interferon-alpha production (GO:0032647)2.70330980
164positive regulation of interleukin-1 beta secretion (GO:0050718)2.70330629
165negative regulation of interleukin-17 production (GO:0032700)2.70028654
166anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.68875256
167detection of external biotic stimulus (GO:0098581)2.68838508
168regulation of T-helper 1 cell differentiation (GO:0045625)2.67830253
169cellular response to lipopolysaccharide (GO:0071222)2.67056968
170negative regulation of myeloid cell apoptotic process (GO:0033033)2.66900006
171chaperone-mediated protein complex assembly (GO:0051131)2.66718210
172DNA replication-independent nucleosome assembly (GO:0006336)2.66615017
173DNA replication-independent nucleosome organization (GO:0034724)2.66615017
174nucleotide-excision repair, DNA gap filling (GO:0006297)2.66305100
175proteasome assembly (GO:0043248)2.66083093
176regulation of NF-kappaB import into nucleus (GO:0042345)2.66027330
177establishment of protein localization to mitochondrial membrane (GO:0090151)2.65223625
178nuclear envelope organization (GO:0006998)2.64782933
179transcription from RNA polymerase I promoter (GO:0006360)2.64440548
180negative regulation by host of viral transcription (GO:0043922)2.63747481
181G1/S transition of mitotic cell cycle (GO:0000082)2.63581948
182cell cycle G1/S phase transition (GO:0044843)2.63581948
183regulation of centrosome cycle (GO:0046605)2.63478783
184cellular response to molecule of bacterial origin (GO:0071219)2.61918553
185positive regulation of transcription factor import into nucleus (GO:0042993)2.61403877
186myeloid leukocyte activation (GO:0002274)2.60281873
187positive regulation of interleukin-1 secretion (GO:0050716)2.60034353
188regulation of mononuclear cell migration (GO:0071675)2.58936461
189regulation of leukocyte degranulation (GO:0043300)2.58700185
190regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.58522145
191positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.57369371
192decidualization (GO:0046697)2.57314776
193regulation of inflammatory response to antigenic stimulus (GO:0002861)2.55401383
194regulation of monocyte chemotaxis (GO:0090025)2.54671677
195cellular response to thyroid hormone stimulus (GO:0097067)2.54257571
196regulation of T-helper 2 cell differentiation (GO:0045628)2.53514773
197regulation of mast cell activation involved in immune response (GO:0033006)2.53499036
198glycolipid catabolic process (GO:0019377)2.53388985
199regulation of interleukin-1 beta secretion (GO:0050706)2.51824767
200regulation of interleukin-17 production (GO:0032660)2.51444282

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.35377449
2BP1_19119308_ChIP-ChIP_Hs578T_Human4.11452419
3MYC_18555785_ChIP-Seq_MESCs_Mouse3.93138693
4IRF8_22096565_ChIP-ChIP_GC-B_Human3.40376025
5IRF8_21731497_ChIP-ChIP_J774_Mouse3.36328181
6MYC_19079543_ChIP-ChIP_MESCs_Mouse3.16509174
7KLF5_18264089_ChIP-ChIP_MESCs_Mouse3.16418222
8KLF4_18264089_ChIP-ChIP_MESCs_Mouse3.16418222
9KLF2_18264089_ChIP-ChIP_MESCs_Mouse3.16418222
10FOXM1_23109430_ChIP-Seq_U2OS_Human3.09256827
11* POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.96472857
12* SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.95265405
13* NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.91720473
14* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.87799094
15EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.85558490
16E2F4_17652178_ChIP-ChIP_JURKAT_Human2.72175007
17* NANOG_18555785_ChIP-Seq_MESCs_Mouse2.69744199
18* MYC_19030024_ChIP-ChIP_MESCs_Mouse2.65205032
19SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.64052050
20IRF8_27001747_Chip-Seq_BMDM_Mouse2.52407558
21TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.49187368
22* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.46040545
23* NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.43891085
24MYC_18358816_ChIP-ChIP_MESCs_Mouse2.43826532
25FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.41282368
26* NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.40781589
27* MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.38030617
28* TCF3_18692474_ChIP-Seq_MEFs_Mouse2.36202655
29MYB_21317192_ChIP-Seq_ERMYB_Mouse2.32541721
30EST1_17652178_ChIP-ChIP_JURKAT_Human2.32500062
31STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.29072451
32* STAT3_1855785_ChIP-Seq_MESCs_Mouse2.26598490
33CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.25024602
34STAT4_19710469_ChIP-ChIP_TH1__Mouse2.23432197
35NELFA_20434984_ChIP-Seq_ESCs_Mouse2.22049572
36ETS1_20019798_ChIP-Seq_JURKAT_Human2.13822998
37KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.12087784
38E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.09377394
39POU5F1_18358816_ChIP-ChIP_MESCs_Mouse2.08783431
40MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.07197791
41* SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.04874382
42* POU5F1_18555785_ChIP-Seq_MESCs_Mouse2.04663177
43JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.03753014
44CREB1_15753290_ChIP-ChIP_HEK293T_Human2.01239915
45EGR1_19374776_ChIP-ChIP_THP-1_Human2.00601810
46E2F1_18555785_ChIP-Seq_MESCs_Mouse1.98997611
47GABP_17652178_ChIP-ChIP_JURKAT_Human1.98816538
48NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.97964240
49VDR_21846776_ChIP-Seq_THP-1_Human1.97392361
50IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.94164793
51* SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.92528249
52Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.90893436
53ELK3_25401928_ChIP-Seq_HUVEC_Human1.90343118
54* ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.89291002
55RARG_19884340_ChIP-ChIP_MEFs_Mouse1.88339990
56* TCF3_18692474_ChIP-Seq_MESCs_Mouse1.87687579
57* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.86496098
58XRN2_22483619_ChIP-Seq_HELA_Human1.85294919
59* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.84639572
60STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.81080136
61HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.80015380
62* NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.77748306
63* SPI1_23547873_ChIP-Seq_NB4_Human1.77724563
64VDR_24763502_ChIP-Seq_THP-1_Human1.77227469
65* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.76925864
66STAT6_21828071_ChIP-Seq_BEAS2B_Human1.75706279
67* SOX2_18555785_ChIP-Seq_MESCs_Mouse1.75072503
68SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.74736420
69IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.73866698
70* SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.69860573
71* KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.68491354
72MYCN_18555785_ChIP-Seq_MESCs_Mouse1.65668872
73* NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.64969830
74FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.64143425
75MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.61464872
76* SOX2_18692474_ChIP-Seq_MEFs_Mouse1.60765919
77NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.59946997
78* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.59512138
79* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.59512138
80VDR_23849224_ChIP-Seq_CD4+_Human1.57839674
81CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.56406231
82RUNX1_22412390_ChIP-Seq_EML_Mouse1.54779049
83MAF_26560356_Chip-Seq_TH1_Human1.53329736
84SPI1_23127762_ChIP-Seq_K562_Human1.52201905
85SALL1_21062744_ChIP-ChIP_HESCs_Human1.51598405
86* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.49541566
87AR_21909140_ChIP-Seq_LNCAP_Human1.49480587
88DCP1A_22483619_ChIP-Seq_HELA_Human1.48560092
89* ATF3_27146783_Chip-Seq_COLON_Human1.48099986
90* NANOG_18692474_ChIP-Seq_MEFs_Mouse1.47692623
91FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.47513426
92ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.47266629
93* OCT4_18692474_ChIP-Seq_MEFs_Mouse1.47057155
94TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.46791579
95* ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.46273445
96E2F1_21310950_ChIP-Seq_MCF-7_Human1.45019777
97LXR_22292898_ChIP-Seq_THP-1_Human1.44222064
98YY1_21170310_ChIP-Seq_MESCs_Mouse1.43383779
99* SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.41160357
100MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.40275001
101CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.40188351
102P63_26484246_Chip-Seq_KERATINOCYTES_Human1.40031920
103KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.37456549
104KDM2B_26808549_Chip-Seq_SUP-B15_Human1.37268626
105PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.37055959
106TTF2_22483619_ChIP-Seq_HELA_Human1.37052941
107E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.35064100
108THAP11_20581084_ChIP-Seq_MESCs_Mouse1.34104614
109SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.33855046
110* SOX2_18692474_ChIP-Seq_MESCs_Mouse1.33025727
111TP63_17297297_ChIP-ChIP_HaCaT_Human1.32716571
112FOXP3_21729870_ChIP-Seq_TREG_Human1.32279879
113PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.31309557
114ESR1_15608294_ChIP-ChIP_MCF-7_Human1.29501394
115* NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.29433697
116KLF4_18555785_ChIP-Seq_MESCs_Mouse1.29171096
117* POU5F1_16518401_ChIP-PET_MESCs_Mouse1.28261502
118* MAF_26560356_Chip-Seq_TH2_Human1.27679923
119NANOG_21062744_ChIP-ChIP_HESCs_Human1.26588737
120* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.25975033
121GABP_19822575_ChIP-Seq_HepG2_Human1.25551088
122* NANOG_18692474_ChIP-Seq_MESCs_Mouse1.24055554
123MYB_26560356_Chip-Seq_TH2_Human1.23811331
124CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.22169020
125KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.22135740
126SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.20608903
127RACK7_27058665_Chip-Seq_MCF-7_Human1.19823094
128ZNF263_19887448_ChIP-Seq_K562_Human1.19483400
129KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.18613925
130ZFX_18555785_ChIP-Seq_MESCs_Mouse1.18475116
131TFEB_21752829_ChIP-Seq_HELA_Human1.18186772
132PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.17203066
133* POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.16901900
134TCF7_22412390_ChIP-Seq_EML_Mouse1.16883104
135* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.16577151
136ELK1_19687146_ChIP-ChIP_HELA_Human1.16364394
137UTX_26944678_Chip-Seq_JUKART_Human1.16335914
138HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.15467948
139VDR_24787735_ChIP-Seq_THP-1_Human1.14734116
140KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.14027343
141PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.13380174
142CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.13255639
143RUNX_20019798_ChIP-Seq_JUKART_Human1.13216734
144GATA2_21666600_ChIP-Seq_HMVEC_Human1.12503249
145BCOR_27268052_Chip-Seq_Bcells_Human1.12068682
146PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.11297931
147YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.10866167
148ESR2_21235772_ChIP-Seq_MCF-7_Human1.10539382
149* KAP1_27257070_Chip-Seq_ESCs_Mouse1.08596350
150HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.07787824
151NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.07681073
152STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.07543417
153* ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.07525507
154SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.05727227
155* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.04905588
156VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.04121837
157UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.03459744
158KDM5A_27292631_Chip-Seq_BREAST_Human1.03377172
159CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.03058559
160KDM2B_26808549_Chip-Seq_DND41_Human1.02687216
161BCL6_27268052_Chip-Seq_Bcells_Human1.02650704
162MYB_26560356_Chip-Seq_TH1_Human1.01106934
163SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.00991831
164* TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.00927186
165FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.00313830
166* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.00208019
167CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.98612655
168MYC_22102868_ChIP-Seq_BL_Human0.97925856
169PU_27001747_Chip-Seq_BMDM_Mouse0.97671288
170* LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.97398812
171CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.97218848
172TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.96248951
173PU.1_20513432_ChIP-Seq_Bcells_Mouse0.95949225
174RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.95901844
175GATA2_22383799_ChIP-Seq_G1ME_Mouse0.95697809
176ELF1_17652178_ChIP-ChIP_JURKAT_Human0.95580222
177* TCF3_18347094_ChIP-ChIP_MESCs_Mouse0.95407255
178SRY_22984422_ChIP-ChIP_TESTIS_Rat0.93814675
179TP63_19390658_ChIP-ChIP_HaCaT_Human0.91846754
180HOXB4_20404135_ChIP-ChIP_EML_Mouse0.91301484
181TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.90260858
182* NANOG_16518401_ChIP-PET_MESCs_Mouse0.89027438
183SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.88416665
184SRF_21415370_ChIP-Seq_HL-1_Mouse0.87029524
185EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.87001124
186CIITA_25753668_ChIP-Seq_RAJI_Human0.84309540
187BCL3_23251550_ChIP-Seq_MUSCLE_Mouse0.83778636
188MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.81971140
189CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.81532460
190* POU5F1_18347094_ChIP-ChIP_MESCs_Mouse0.81147166

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003693_abnormal_embryo_hatching4.67390365
2MP0004957_abnormal_blastocyst_morpholog4.45459548
3MP0003111_abnormal_nucleus_morphology3.86950555
4MP0008057_abnormal_DNA_replication3.78482428
5MP0010094_abnormal_chromosome_stability3.72501876
6MP0003436_decreased_susceptibility_to3.70147187
7MP0003303_peritoneal_inflammation3.60983526
8MP0010352_gastrointestinal_tract_polyps3.49692290
9MP0003077_abnormal_cell_cycle3.46473475
10MP0002148_abnormal_hypersensitivity_rea3.33510072
11MP0006082_CNS_inflammation3.03890587
12MP0009840_abnormal_foam_cell2.92292924
13MP0008058_abnormal_DNA_repair2.91617014
14MP0005058_abnormal_lysosome_morphology2.82224463
15MP0004133_heterotaxia2.80945592
16MP0002419_abnormal_innate_immunity2.65939601
17MP0001835_abnormal_antigen_presentation2.58110120
18MP0005671_abnormal_response_to2.54589106
19MP0004510_myositis2.53076932
20MP0005000_abnormal_immune_tolerance2.52302773
21MP0004947_skin_inflammation2.50216728
22MP0003191_abnormal_cellular_cholesterol2.43546987
23MP0002653_abnormal_ependyma_morphology2.43220832
24MP0005451_abnormal_body_composition2.39819347
25MP0005025_abnormal_response_to2.36693248
26MP0001730_embryonic_growth_arrest2.35201593
27MP0008932_abnormal_embryonic_tissue2.23972292
28MP0003941_abnormal_skin_development2.22642375
29MP0000350_abnormal_cell_proliferation2.20535890
30MP0001790_abnormal_immune_system2.17528819
31MP0005387_immune_system_phenotype2.17528819
32MP0002452_abnormal_antigen_presenting2.14768361
33MP0001853_heart_inflammation2.09974459
34MP0002723_abnormal_immune_serum2.08161315
35MP0009764_decreased_sensitivity_to2.05156332
36MP0008007_abnormal_cellular_replicative2.03828297
37MP0003123_paternal_imprinting2.02970763
38MP0010307_abnormal_tumor_latency2.02705634
39MP0000343_altered_response_to2.02402454
40MP0003075_altered_response_to2.01549258
41MP0003718_maternal_effect1.99991461
42MP0003283_abnormal_digestive_organ1.99093846
43MP0001533_abnormal_skeleton_physiology1.95016326
44MP0005076_abnormal_cell_differentiation1.92232055
45MP0001800_abnormal_humoral_immune1.92113396
46* MP0003806_abnormal_nucleotide_metabolis1.90496544
47MP0005380_embryogenesis_phenotype1.87646101
48MP0001672_abnormal_embryogenesis/_devel1.87646101
49MP0003890_abnormal_embryonic-extraembry1.86057515
50MP0002420_abnormal_adaptive_immunity1.85440409
51MP0001819_abnormal_immune_cell1.85219007
52MP0003172_abnormal_lysosome_physiology1.82621339
53MP0010234_abnormal_vibrissa_follicle1.81183435
54MP0003300_gastrointestinal_ulcer1.79235155
55MP0002086_abnormal_extraembryonic_tissu1.78669258
56MP0002084_abnormal_developmental_patter1.76239895
57MP0000490_abnormal_crypts_of1.74015220
58MP0003119_abnormal_digestive_system1.72766146
59MP0000685_abnormal_immune_system1.72218072
60MP0002085_abnormal_embryonic_tissue1.68530628
61MP0003566_abnormal_cell_adhesion1.65581258
62MP0001697_abnormal_embryo_size1.64822588
63MP0001845_abnormal_inflammatory_respons1.64188869
64MP0002277_abnormal_respiratory_mucosa1.63774338
65MP0004264_abnormal_extraembryonic_tissu1.62088063
66MP0003786_premature_aging1.61436531
67MP0003984_embryonic_growth_retardation1.61217616
68MP0004197_abnormal_fetal_growth/weight/1.59040204
69MP0002405_respiratory_system_inflammati1.58925984
70MP0003186_abnormal_redox_activity1.58675293
71MP0002088_abnormal_embryonic_growth/wei1.58245385
72MP0002998_abnormal_bone_remodeling1.58131707
73MP0005464_abnormal_platelet_physiology1.56571179
74MP0002080_prenatal_lethality1.53638424
75MP0003136_yellow_coat_color1.50940896
76MP0000604_amyloidosis1.50247703
77MP0006292_abnormal_olfactory_placode1.42547270
78MP0008469_abnormal_protein_level1.42335728
79MP0003705_abnormal_hypodermis_morpholog1.41827346
80MP0001293_anophthalmia1.38499312
81MP0008004_abnormal_stomach_pH1.36894642
82MP0005166_decreased_susceptibility_to1.35750958
83MP0001216_abnormal_epidermal_layer1.35523870
84MP0005023_abnormal_wound_healing1.33609494
85MP0008877_abnormal_DNA_methylation1.32561472
86MP0005310_abnormal_salivary_gland1.30410723
87MP0003828_pulmonary_edema1.28934194
88MP0001849_ear_inflammation1.28861457
89MP0000716_abnormal_immune_system1.28462965
90MP0000313_abnormal_cell_death1.27404962
91MP0003567_abnormal_fetal_cardiomyocyte1.26905380
92MP0005164_abnormal_response_to1.23158931
93MP0000516_abnormal_urinary_system1.22641785
94MP0005367_renal/urinary_system_phenotyp1.22641785
95MP0003950_abnormal_plasma_membrane1.19890096
96MP0002877_abnormal_melanocyte_morpholog1.19831303
97MP0002254_reproductive_system_inflammat1.19672285
98MP0003763_abnormal_thymus_physiology1.18480798
99MP0002019_abnormal_tumor_incidence1.12428016
100MP0001851_eye_inflammation1.12341863
101MP0000858_altered_metastatic_potential1.11581570
102MP0006054_spinal_hemorrhage1.10508373
103MP0005167_abnormal_blood-brain_barrier1.08819983
104MP0009278_abnormal_bone_marrow1.08529958
105MP0002398_abnormal_bone_marrow1.04276691
106MP0003315_abnormal_perineum_morphology1.03998022
107MP0003453_abnormal_keratinocyte_physiol1.03714054
108* MP0005266_abnormal_metabolism1.03595419
109MP0002210_abnormal_sex_determination1.01958550
110MP0002429_abnormal_blood_cell1.01016599
111MP0004381_abnormal_hair_follicle1.00946059
112MP0005165_increased_susceptibility_to1.00040127
113MP0003448_altered_tumor_morphology0.99579418
114MP0003329_amyloid_beta_deposits0.98156898
115MP0000579_abnormal_nail_morphology0.97705863
116MP0003091_abnormal_cell_migration0.97261565
117MP0001145_abnormal_male_reproductive0.96079492
118MP0010030_abnormal_orbit_morphology0.92117884
119MP0000477_abnormal_intestine_morphology0.90099431
120MP0009763_increased_sensitivity_to0.88670763
121MP0000358_abnormal_cell_content/0.88289524
122MP0005621_abnormal_cell_physiology0.86954702
123MP0001873_stomach_inflammation0.85609125
124MP0005384_cellular_phenotype0.85122712
125MP0000689_abnormal_spleen_morphology0.84981921
126MP0009765_abnormal_xenobiotic_induced0.84737388
127MP0002060_abnormal_skin_morphology0.84701416
128MP0002796_impaired_skin_barrier0.83990071
129MP0003121_genomic_imprinting0.83411906
130MP0005501_abnormal_skin_physiology0.82588224
131MP0002111_abnormal_tail_morphology0.81840090
132MP0000371_diluted_coat_color0.81113525
133MP0000537_abnormal_urethra_morphology0.81017879
134MP0003656_abnormal_erythrocyte_physiolo0.80734223
135MP0005395_other_phenotype0.78983150
136MP0005390_skeleton_phenotype0.77406800
137MP0002332_abnormal_exercise_endurance0.73989042
138MP0001915_intracranial_hemorrhage0.73918737
139MP0000653_abnormal_sex_gland0.71187191
140MP0009053_abnormal_anal_canal0.71021994
141MP0000750_abnormal_muscle_regeneration0.70599688
142MP0003690_abnormal_glial_cell0.69416433
143MP0000920_abnormal_myelination0.68753361
144MP0001191_abnormal_skin_condition0.68445114
145MP0001663_abnormal_digestive_system0.68004267
146MP0010678_abnormal_skin_adnexa0.66963990
147MP0000015_abnormal_ear_pigmentation0.66169726
148MP0001929_abnormal_gametogenesis0.66094473
149MP0003936_abnormal_reproductive_system0.65769437
150MP0002075_abnormal_coat/hair_pigmentati0.65286046
151MP0001119_abnormal_female_reproductive0.64404949
152MP0000678_abnormal_parathyroid_gland0.64127950
153MP0010771_integument_phenotype0.63501911
154MP0003795_abnormal_bone_structure0.63427996
155MP0001286_abnormal_eye_development0.63405863
156MP0001542_abnormal_bone_strength0.63194343
157MP0005397_hematopoietic_system_phenotyp0.63042903
158MP0001545_abnormal_hematopoietic_system0.63042903
159MP0008260_abnormal_autophagy0.61472641
160MP0009333_abnormal_splenocyte_physiolog0.61123749
161MP0000470_abnormal_stomach_morphology0.58882779
162MP0001186_pigmentation_phenotype0.57683623
163MP0002127_abnormal_cardiovascular_syste0.57282827
164MP0002925_abnormal_cardiovascular_devel0.56881096
165MP0005389_reproductive_system_phenotype0.56501309
166MP0002697_abnormal_eye_size0.55852895
167MP0003724_increased_susceptibility_to0.55003613
168MP0009785_altered_susceptibility_to0.54779526
169MP0000432_abnormal_head_morphology0.52769846
170MP0010155_abnormal_intestine_physiology0.51243241
171MP0002722_abnormal_immune_system0.50544850
172MP0002160_abnormal_reproductive_system0.49398702

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of liposaccharide metabolism (HP:0010968)6.39952843
2Abnormality of glycosphingolipid metabolism (HP:0004343)6.39952843
3Abnormality of glycolipid metabolism (HP:0010969)6.39952843
4Ependymoma (HP:0002888)5.12301340
5Abnormality of macrophages (HP:0004311)4.91620629
6Breast hypoplasia (HP:0003187)4.54095726
7Birth length less than 3rd percentile (HP:0003561)4.53284071
8Recurrent bacterial skin infections (HP:0005406)4.37078551
9Thick nail (HP:0001805)4.32154547
10Agnosia (HP:0010524)4.29766338
11Increased cerebral lipofuscin (HP:0011813)4.25752046
12Stomatitis (HP:0010280)4.00091769
13Eczematoid dermatitis (HP:0000976)3.92971735
14Milia (HP:0001056)3.84529757
15Loss of speech (HP:0002371)3.82456911
16Recurrent abscess formation (HP:0002722)3.82406430
17Medulloblastoma (HP:0002885)3.62817013
18Absent radius (HP:0003974)3.62412978
19Increased neuronal autofluorescent lipopigment (HP:0002074)3.59089158
20Reticulocytopenia (HP:0001896)3.58218986
21Abnormality of the labia minora (HP:0012880)3.56793657
22Vacuolated lymphocytes (HP:0001922)3.56593304
23Orchitis (HP:0100796)3.51839261
24Colon cancer (HP:0003003)3.50705582
25Aplasia/hypoplasia of the humerus (HP:0006507)3.45482380
26Myositis (HP:0100614)3.43604072
27Neurofibrillary tangles (HP:0002185)3.42927009
28Aplasia involving forearm bones (HP:0009822)3.38039748
29Absent forearm bone (HP:0003953)3.38039748
30Astrocytoma (HP:0009592)3.33388845
31Abnormality of the astrocytes (HP:0100707)3.33388845
32Retrobulbar optic neuritis (HP:0100654)3.33152726
33Optic neuritis (HP:0100653)3.33152726
34Onycholysis (HP:0001806)3.32079600
35Neoplasm of the oral cavity (HP:0100649)3.27719557
36Carpal bone hypoplasia (HP:0001498)3.27384544
37Oral leukoplakia (HP:0002745)3.22084104
38Rough bone trabeculation (HP:0100670)3.21263407
39Axonal loss (HP:0003447)3.19954579
40Supernumerary spleens (HP:0009799)3.18682254
41Rhabdomyosarcoma (HP:0002859)3.18305785
42Selective tooth agenesis (HP:0001592)3.17511698
43Short humerus (HP:0005792)3.14066015
44Nail dystrophy (HP:0008404)3.13547975
45Plantar hyperkeratosis (HP:0007556)3.13350959
46Elevated erythrocyte sedimentation rate (HP:0003565)3.11917216
47Pustule (HP:0200039)3.09571331
48Degeneration of anterior horn cells (HP:0002398)3.08677025
49Abnormality of the anterior horn cell (HP:0006802)3.08677025
50Fragile nails (HP:0001808)3.08258174
51Chromsome breakage (HP:0040012)3.05917328
52Chromosomal breakage induced by crosslinking agents (HP:0003221)3.04042616
53Interstitial pulmonary disease (HP:0006530)3.02771801
54Glioma (HP:0009733)2.97536972
55Dysostosis multiplex (HP:0000943)2.97022666
56Mediastinal lymphadenopathy (HP:0100721)2.92871540
57Abnormality of the salivary glands (HP:0010286)2.91848901
58Alopecia of scalp (HP:0002293)2.90169522
59Stenosis of the external auditory canal (HP:0000402)2.88987465
60Rib fusion (HP:0000902)2.87125988
61Abnormality of nail color (HP:0100643)2.83861886
62Absent thumb (HP:0009777)2.77979457
63Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.76106398
64Patellar aplasia (HP:0006443)2.76056652
65Autoimmune thrombocytopenia (HP:0001973)2.75045394
66Congenital nonbullous ichthyosiform erythroderma (HP:0007479)2.72970151
67Biliary tract neoplasm (HP:0100574)2.71998128
68Missing ribs (HP:0000921)2.71540604
69Fused cervical vertebrae (HP:0002949)2.71241016
70Parakeratosis (HP:0001036)2.70637123
71Abdominal situs inversus (HP:0003363)2.69481151
72Abnormality of abdominal situs (HP:0011620)2.69481151
73Disinhibition (HP:0000734)2.68915321
74Rectovaginal fistula (HP:0000143)2.68716266
75Rectal fistula (HP:0100590)2.68716266
76Supranuclear gaze palsy (HP:0000605)2.66978820
77Esophageal atresia (HP:0002032)2.61978893
78Abnormal blistering of the skin (HP:0008066)2.61076892
79Spinal muscular atrophy (HP:0007269)2.59727207
80Mutism (HP:0002300)2.59650200
81Neoplasm of the pancreas (HP:0002894)2.56349125
82Aplasia/Hypoplasia involving the carpal bones (HP:0006502)2.55302296
83Premature graying of hair (HP:0002216)2.54922794
84Cerebral inclusion bodies (HP:0100314)2.53893774
85Amaurosis fugax (HP:0100576)2.52527188
86Aplasia/Hypoplasia of the patella (HP:0006498)2.52325376
87Recurrent gram-negative bacterial infections (HP:0005420)2.51670673
88Meckel diverticulum (HP:0002245)2.50041786
89Increased serum ferritin (HP:0003281)2.49857065
90Impulsivity (HP:0100710)2.49613496
91Keratoconjunctivitis sicca (HP:0001097)2.48839595
92Obstructive lung disease (HP:0006536)2.48120600
93Chronic obstructive pulmonary disease (HP:0006510)2.48120600
94Abnormality of chromosome stability (HP:0003220)2.47203430
95Premature ovarian failure (HP:0008209)2.46684725
96Trismus (HP:0000211)2.46211090
97Urticaria (HP:0001025)2.45482688
98Shawl scrotum (HP:0000049)2.44005772
99Petechiae (HP:0000967)2.43286713
100Abnormality of the ileum (HP:0001549)2.43053319
101Tracheoesophageal fistula (HP:0002575)2.42555948
102Amyloidosis (HP:0011034)2.42442422
103Palmoplantar hyperkeratosis (HP:0000972)2.40626857
104Multiple enchondromatosis (HP:0005701)2.40135611
105Recurrent skin infections (HP:0001581)2.39555750
106Abnormal trabecular bone morphology (HP:0100671)2.39545026
107Neoplasm of striated muscle (HP:0009728)2.37509709
108Metaphyseal cupping (HP:0003021)2.37319487
109Atrophic scars (HP:0001075)2.36021045
110Neuronal loss in central nervous system (HP:0002529)2.35833619
111Abnormality of cells of the erythroid lineage (HP:0012130)2.35632771
112Abnormality of the preputium (HP:0100587)2.33957932
113Abnormality of pyrimidine metabolism (HP:0004353)2.33409960
114Aplasia/Hypoplasia of the uvula (HP:0010293)2.33145812
115Apathy (HP:0000741)2.31592114
116Systemic lupus erythematosus (HP:0002725)2.31567914
117Gangrene (HP:0100758)2.30208307
118Vaginal fistula (HP:0004320)2.30192183
119Increased IgE level (HP:0003212)2.29897159
120Increased IgM level (HP:0003496)2.29786438
121Congenital ichthyosiform erythroderma (HP:0007431)2.28856019
122Keratoconjunctivitis (HP:0001096)2.27743331
123Myocardial infarction (HP:0001658)2.26338137
124Bone marrow hypocellularity (HP:0005528)2.26021295
125Diminished motivation (HP:0000745)2.25472941
126Progressive neurologic deterioration (HP:0002344)2.25033375
127Angiofibromas (HP:0010615)2.24043799
128Adenoma sebaceum (HP:0009720)2.24043799
129Basal cell carcinoma (HP:0002671)2.23261723
130Intestinal fistula (HP:0100819)2.21447972
131Recurrent fungal infections (HP:0002841)2.20944751
132Malnutrition (HP:0004395)2.17711725
133Prolonged neonatal jaundice (HP:0006579)2.17457529
134Hepatosplenomegaly (HP:0001433)2.17304889
135Cerebral hypomyelination (HP:0006808)2.17168610
136Breast aplasia (HP:0100783)2.17095380
137Pulmonary infiltrates (HP:0002113)2.16061445
138Nuclear cataract (HP:0100018)2.15500553
139Duplicated collecting system (HP:0000081)2.14079323
140Palmar hyperkeratosis (HP:0010765)2.13802659
141Vertebral clefting (HP:0008428)2.13052263
142Abnormal biliary tract morphology (HP:0012440)2.12712045
143Delayed puberty (HP:0000823)2.12423484
144Abnormality of mucopolysaccharide metabolism (HP:0011020)2.11144995
145Abnormality of polysaccharide metabolism (HP:0011012)2.11144995
146Abnormality of glycosaminoglycan metabolism (HP:0004371)2.11144995
147Myelodysplasia (HP:0002863)2.10771196
148Premature loss of primary teeth (HP:0006323)2.08406108
149Gingivitis (HP:0000230)2.08238686
150Purpura (HP:0000979)2.05222966
151Aplasia/Hypoplasia of the sacrum (HP:0008517)2.04886971
152Malignant gastrointestinal tract tumors (HP:0006749)2.04578472
153Gastrointestinal carcinoma (HP:0002672)2.04578472
154Vasculitis (HP:0002633)2.02042514
155Abnormal number of incisors (HP:0011064)2.00839166
156Small intestinal stenosis (HP:0012848)2.00406276
157Duodenal stenosis (HP:0100867)2.00406276
158Gastrointestinal atresia (HP:0002589)2.00397137
159Vertebral fusion (HP:0002948)1.99113445
160Cellular immunodeficiency (HP:0005374)1.98815721
161Anorexia (HP:0002039)1.98307604
162Vertebral hypoplasia (HP:0008417)1.97223865
163Aplasia/Hypoplasia of the vertebrae (HP:0008515)1.97223865
164Neoplasm of the colon (HP:0100273)1.95058856
165Horseshoe kidney (HP:0000085)1.94910289
166Asplenia (HP:0001746)1.94730007
167Squamous cell carcinoma (HP:0002860)1.93592425
16811 pairs of ribs (HP:0000878)1.93470576
169Ovarian neoplasm (HP:0100615)1.93323925
170Microretrognathia (HP:0000308)1.91593902
171Upper motor neuron abnormality (HP:0002127)1.91416128
172Tongue fasciculations (HP:0001308)1.90546672
173T lymphocytopenia (HP:0005403)1.90535236
174Cleft eyelid (HP:0000625)1.90003443
175Sex reversal (HP:0012245)1.89299434
176Abnormal sex determination (HP:0012244)1.89299434
177Aplasia/Hypoplasia of the breasts (HP:0010311)1.88875862
178Hemoptysis (HP:0002105)1.88578453
179Aplasia/Hypoplasia of the sternum (HP:0006714)1.88199451
180Slow saccadic eye movements (HP:0000514)1.87481328
181Aplasia/Hypoplasia involving the musculature (HP:0001460)1.87114402
182Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.86776387
183Cheilitis (HP:0100825)1.84740073
184Mucopolysacchariduria (HP:0008155)1.82243412
185Urinary glycosaminoglycan excretion (HP:0003541)1.82243412
186Global brain atrophy (HP:0002283)1.81670197
187Segmental peripheral demyelination/remyelination (HP:0003481)1.81545474
188Episodic fever (HP:0001954)1.81490075
189Polyneuropathy (HP:0001271)1.81413821
190Aplasia cutis congenita (HP:0001057)1.81223588
191Ectropion (HP:0000656)1.79302353
192Abnormality of iron homeostasis (HP:0011031)1.78994891
193Abnormality of T cell number (HP:0011839)1.78880102
194Recurrent viral infections (HP:0004429)1.78690124
195Skin ulcer (HP:0200042)1.78188956
196Hypergammaglobulinemia (HP:0010702)1.77905748
197Autoimmune hemolytic anemia (HP:0001890)1.76978350
198Ridged nail (HP:0001807)1.75936473
199Polygenic inheritance (HP:0010982)1.75909127

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WEE14.22888083
2EPHA24.01334181
3NEK13.17121573
4BUB13.15304676
5CDK123.14450663
6TTK2.94415014
7MST1R2.74481900
8CDC72.60580311
9RPS6KB22.51731885
10EIF2AK12.41108929
11PASK2.25624861
12IRAK42.22951303
13PBK2.20778694
14MAP3K132.18679499
15AKT32.17948138
16MAP3K142.15012605
17TSSK62.06503474
18TBK11.99357016
19NEK21.96717015
20PLK11.93267815
21ZAP701.91136265
22PRPF4B1.88741649
23EPHB11.85294769
24MAP4K11.84990746
25RIPK41.81817499
26CDK71.80609063
27SRPK11.73291829
28TXK1.72107115
29ABL21.68860764
30ERN11.68760241
31GRK71.68400598
32TESK21.66337544
33FGR1.65659255
34SIK31.65265061
35MOS1.65206658
36EIF2AK31.58752522
37TAOK11.56093158
38MAPKAPK31.55564876
39NME21.55076123
40MAP3K81.52003290
41RIPK11.50536187
42TYK21.50336859
43JAK31.47930618
44PAK41.45734514
45ACVR1B1.45602552
46ATR1.42756435
47PLK31.42671511
48ALK1.39932437
49TLK11.37932154
50CHEK21.37208734
51VRK11.36773457
52AURKB1.36691958
53STK241.35136205
54IKBKE1.32685649
55TGFBR11.29584709
56BRD41.29544212
57MAP2K61.27146224
58STK101.25553528
59MST41.24903157
60AURKA1.24727721
61MET1.24451089
62PNCK1.21992366
63TGFBR21.21481293
64DYRK31.21364011
65MARK31.15582614
66ZAK1.13983924
67LMTK21.10985534
68CDK41.10674249
69PLK41.10174543
70CHEK11.09758879
71STK41.09695615
72CDC42BPA1.09498238
73MAP3K11.09239293
74PIM11.08762704
75BRSK21.07901713
76PDK21.07318964
77FLT31.06484547
78IRAK21.06314021
79BMPR20.96920782
80MAP3K50.96226349
81LATS20.95086360
82PRKCI0.93323113
83MAP3K120.91068177
84DDR20.88536193
85STK160.87062057
86PTK20.85668381
87STK38L0.85201249
88CDK20.84033696
89BRAF0.80617152
90RPS6KA40.80315392
91TESK10.80142555
92BCKDK0.79175820
93ATM0.77466310
94SCYL20.77181998
95ARAF0.76462377
96HCK0.75106011
97DYRK20.73412214
98MAP3K110.71407444
99MTOR0.71232798
100WNK30.69672343
101KDR0.69443737
102ERBB40.68958756
103CSNK2A20.68569910
104IRAK10.68462573
105LCK0.68085903
106EPHB20.66984706
107LIMK10.65778202
108MKNK10.64992061
109PAK10.64539257
110BMX0.64195729
111CSNK2A10.63589887
112MAP3K30.61865418
113SYK0.61496417
114LYN0.61416541
115MELK0.59879007
116TAOK20.59570793
117CDK60.59559283
118TTN0.58979927
119BTK0.58963370
120FES0.57982244
121TAOK30.57578599
122EIF2AK20.56067583
123EEF2K0.55070845
124MATK0.51487079
125MKNK20.50548074
126CDK10.50256209
127CSF1R0.50152114
128SIK10.48068363
129CHUK0.47584178
130MAP3K60.46299597
131PRKD20.44901555
132YES10.44275629
133KSR20.43933769
134IKBKB0.43900071
135SIK20.43053663
136PIM20.42662459
137LRRK20.42536697
138RPS6KA50.41978848
139CSNK1E0.41653042
140PRKG20.41121098
141JAK10.41006631
142MAP2K20.40681797
143ADRBK20.40413913
144MAP3K90.39037424
145PDK40.38855467
146PDK30.38855467
147PKN20.38778947
148CLK10.38676613
149CSNK1D0.38496326
150PDGFRB0.37815087
151PDPK10.37743450
152CSK0.36016347
153BLK0.35460552
154PTK60.35016632
155MAP2K30.34797336
156IRAK30.34379998
157ABL10.32368981
158JAK20.32296797
159PTK2B0.32056557
160AKT20.31085617
161NME10.31077432
162NTRK10.29223995
163MAPKAPK20.28502344
164GRK60.27408882
165ITK0.27308330
166CAMKK20.26269352

Predicted pathways (KEGG)

RankGene SetZ-score
1Mismatch repair_Homo sapiens_hsa034304.47706487
2DNA replication_Homo sapiens_hsa030304.18898745
3Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.74483487
4Proteasome_Homo sapiens_hsa030503.43268467
5Ribosome_Homo sapiens_hsa030103.26917740
6RNA transport_Homo sapiens_hsa030133.13544360
7One carbon pool by folate_Homo sapiens_hsa006703.11513509
8RNA polymerase_Homo sapiens_hsa030202.97180430
9Spliceosome_Homo sapiens_hsa030402.92010795
10Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.79055844
11Osteoclast differentiation_Homo sapiens_hsa043802.68071649
12Homologous recombination_Homo sapiens_hsa034402.59815502
13Toll-like receptor signaling pathway_Homo sapiens_hsa046202.57384126
14Base excision repair_Homo sapiens_hsa034102.55914671
15Rheumatoid arthritis_Homo sapiens_hsa053232.54629877
16Nucleotide excision repair_Homo sapiens_hsa034202.53522664
17Other glycan degradation_Homo sapiens_hsa005112.41240222
18Lysosome_Homo sapiens_hsa041422.38392019
19Malaria_Homo sapiens_hsa051442.22011988
20Cell cycle_Homo sapiens_hsa041102.13490548
21TNF signaling pathway_Homo sapiens_hsa046682.10953529
22* Pyrimidine metabolism_Homo sapiens_hsa002402.02410933
23Tuberculosis_Homo sapiens_hsa051521.98018158
24Fanconi anemia pathway_Homo sapiens_hsa034601.90893578
25Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.74173096
26Staphylococcus aureus infection_Homo sapiens_hsa051501.73399896
27Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.72393994
28Toxoplasmosis_Homo sapiens_hsa051451.70910263
29Non-homologous end-joining_Homo sapiens_hsa034501.69775256
30Pertussis_Homo sapiens_hsa051331.69494678
31Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.66514919
32Basal transcription factors_Homo sapiens_hsa030221.64101009
33RNA degradation_Homo sapiens_hsa030181.63635783
34Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.56223885
35Folate biosynthesis_Homo sapiens_hsa007901.55295817
36Autoimmune thyroid disease_Homo sapiens_hsa053201.54799397
37p53 signaling pathway_Homo sapiens_hsa041151.53951000
38Glycosaminoglycan degradation_Homo sapiens_hsa005311.51034868
39mRNA surveillance pathway_Homo sapiens_hsa030151.50924475
40Phagosome_Homo sapiens_hsa041451.47061642
41Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.45531273
42Fructose and mannose metabolism_Homo sapiens_hsa000511.43020131
43Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.41122004
44Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.37624735
45Measles_Homo sapiens_hsa051621.37320332
46Collecting duct acid secretion_Homo sapiens_hsa049661.36931350
47Pentose phosphate pathway_Homo sapiens_hsa000301.35973640
48Legionellosis_Homo sapiens_hsa051341.33498986
49Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.24447155
50Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.22336252
51Intestinal immune network for IgA production_Homo sapiens_hsa046721.19973749
52Selenocompound metabolism_Homo sapiens_hsa004501.18882527
53Biosynthesis of amino acids_Homo sapiens_hsa012301.17080738
54T cell receptor signaling pathway_Homo sapiens_hsa046601.15279685
55Chemokine signaling pathway_Homo sapiens_hsa040621.13174856
56Epstein-Barr virus infection_Homo sapiens_hsa051691.11019771
57Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.09758206
58Viral myocarditis_Homo sapiens_hsa054161.08010385
59B cell receptor signaling pathway_Homo sapiens_hsa046621.06356454
60Purine metabolism_Homo sapiens_hsa002301.05076258
612-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.05052403
62Hepatitis C_Homo sapiens_hsa051601.04242613
63Cyanoamino acid metabolism_Homo sapiens_hsa004601.02353915
64Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.02090748
65Amoebiasis_Homo sapiens_hsa051460.98439567
66Acute myeloid leukemia_Homo sapiens_hsa052210.97071141
67Jak-STAT signaling pathway_Homo sapiens_hsa046300.96776588
68Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.96424758
69SNARE interactions in vesicular transport_Homo sapiens_hsa041300.93472366
70Glutathione metabolism_Homo sapiens_hsa004800.91581934
71Galactose metabolism_Homo sapiens_hsa000520.91479492
72Primary immunodeficiency_Homo sapiens_hsa053400.90879161
73Vibrio cholerae infection_Homo sapiens_hsa051100.89592762
74Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.86350177
75Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.85545724
76VEGF signaling pathway_Homo sapiens_hsa043700.85368490
77Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.84404638
78Type I diabetes mellitus_Homo sapiens_hsa049400.84335478
79Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.83522770
80Hepatitis B_Homo sapiens_hsa051610.81944263
81Systemic lupus erythematosus_Homo sapiens_hsa053220.81772881
82Herpes simplex infection_Homo sapiens_hsa051680.80944002
83Viral carcinogenesis_Homo sapiens_hsa052030.79969672
84Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.78271046
85Cysteine and methionine metabolism_Homo sapiens_hsa002700.78146077
86Carbon metabolism_Homo sapiens_hsa012000.77620186
87Endocytosis_Homo sapiens_hsa041440.74127831
88Graft-versus-host disease_Homo sapiens_hsa053320.73285619
89Regulation of autophagy_Homo sapiens_hsa041400.72825263
90AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.72433983
91Oocyte meiosis_Homo sapiens_hsa041140.70873845
92Antigen processing and presentation_Homo sapiens_hsa046120.70153568
93Sphingolipid metabolism_Homo sapiens_hsa006000.67592914
94Maturity onset diabetes of the young_Homo sapiens_hsa049500.66144598
95Leukocyte transendothelial migration_Homo sapiens_hsa046700.65488683
96NOD-like receptor signaling pathway_Homo sapiens_hsa046210.64748134
97Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.60042414
98Renal cell carcinoma_Homo sapiens_hsa052110.58226558
99TGF-beta signaling pathway_Homo sapiens_hsa043500.57975689
100Adipocytokine signaling pathway_Homo sapiens_hsa049200.55831023
101Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.55064447
102Hippo signaling pathway_Homo sapiens_hsa043900.52591460
103Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.52435867
104Chronic myeloid leukemia_Homo sapiens_hsa052200.51693413
105Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.51345134
106Sphingolipid signaling pathway_Homo sapiens_hsa040710.50853200
107Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.50426801
108Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.48365279
109HTLV-I infection_Homo sapiens_hsa051660.48292531
110MicroRNAs in cancer_Homo sapiens_hsa052060.47419048
111NF-kappa B signaling pathway_Homo sapiens_hsa040640.45812125
112Pancreatic cancer_Homo sapiens_hsa052120.45661577
113Huntingtons disease_Homo sapiens_hsa050160.45461892
114Arachidonic acid metabolism_Homo sapiens_hsa005900.44907291
115Arginine and proline metabolism_Homo sapiens_hsa003300.44851930
116Neurotrophin signaling pathway_Homo sapiens_hsa047220.44334181
117Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.43550923
118Apoptosis_Homo sapiens_hsa042100.42850431
119Proteoglycans in cancer_Homo sapiens_hsa052050.41951885
120Linoleic acid metabolism_Homo sapiens_hsa005910.41639895
121* Drug metabolism - other enzymes_Homo sapiens_hsa009830.40582622
122Sulfur metabolism_Homo sapiens_hsa009200.40344595
123Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.39995649
124Notch signaling pathway_Homo sapiens_hsa043300.38738690
125Prolactin signaling pathway_Homo sapiens_hsa049170.38661728
126Renin-angiotensin system_Homo sapiens_hsa046140.38100742
127Tight junction_Homo sapiens_hsa045300.38060433
128RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.37619052
129Influenza A_Homo sapiens_hsa051640.37280409
130HIF-1 signaling pathway_Homo sapiens_hsa040660.35450980
131Thyroid cancer_Homo sapiens_hsa052160.35314341
132Synaptic vesicle cycle_Homo sapiens_hsa047210.35312714
133Leishmaniasis_Homo sapiens_hsa051400.35127852
134Adherens junction_Homo sapiens_hsa045200.34792409
135ErbB signaling pathway_Homo sapiens_hsa040120.34328904
136Transcriptional misregulation in cancer_Homo sapiens_hsa052020.34279379
137MAPK signaling pathway_Homo sapiens_hsa040100.34031600
138Regulation of actin cytoskeleton_Homo sapiens_hsa048100.32573399
139Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.31172324
140Asthma_Homo sapiens_hsa053100.30945084
141Fat digestion and absorption_Homo sapiens_hsa049750.29982055
142African trypanosomiasis_Homo sapiens_hsa051430.29810329
143alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.29679658
144Shigellosis_Homo sapiens_hsa051310.27701125
145Bladder cancer_Homo sapiens_hsa052190.27373266
146GnRH signaling pathway_Homo sapiens_hsa049120.27334032
147Small cell lung cancer_Homo sapiens_hsa052220.26100200
148Prion diseases_Homo sapiens_hsa050200.25602466
149Oxidative phosphorylation_Homo sapiens_hsa001900.24774896
150mTOR signaling pathway_Homo sapiens_hsa041500.24362660
151Basal cell carcinoma_Homo sapiens_hsa052170.24111410
152Protein export_Homo sapiens_hsa030600.23491500
153Sulfur relay system_Homo sapiens_hsa041220.20404996
154Salmonella infection_Homo sapiens_hsa051320.19683347
155Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.19550242
156Central carbon metabolism in cancer_Homo sapiens_hsa052300.18771494
157Hematopoietic cell lineage_Homo sapiens_hsa046400.18443235
158Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.17633642
159Mineral absorption_Homo sapiens_hsa049780.17377141
160Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.17006028
161* Metabolic pathways_Homo sapiens_hsa011000.16163764
162Allograft rejection_Homo sapiens_hsa053300.16101871
163Pathways in cancer_Homo sapiens_hsa052000.15268911

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