DSCR3

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 region of chromosome 21 between genes CBR and ERG (CBR-ERG region), which spans 2.5 Mb on 21q22.2, has been defined by analysis of patients with partial trisomy 21. It contributes significantly to the pathogenesis of many characteristics of Down syndrome, including morphological features, hypotonia, and mental retardation. The DSCR3 (Down syndrome critical region gene 3) gene is found in this region and is predictated to contain eight exons. DSCR3 is expressed in most tissues examined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1aminoglycoside antibiotic metabolic process (GO:0030647)6.90822594
2maintenance of protein location in nucleus (GO:0051457)6.36551699
3somite rostral/caudal axis specification (GO:0032525)6.06735149
4cytidine metabolic process (GO:0046087)5.89049151
5cytidine catabolic process (GO:0006216)5.89049151
6cytidine deamination (GO:0009972)5.89049151
7regulation of mammary gland epithelial cell proliferation (GO:0033599)5.85164702
8protein localization to kinetochore (GO:0034501)5.49504005
9negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)5.44978812
10negative regulation of telomerase activity (GO:0051974)5.15396907
11regulation of telomere maintenance via telomerase (GO:0032210)5.04916190
12negative regulation of epidermis development (GO:0045683)5.01123395
13negative regulation of cell cycle G2/M phase transition (GO:1902750)4.95577613
14regulation of nuclear cell cycle DNA replication (GO:0033262)4.93972145
15interferon-gamma production (GO:0032609)4.93201961
16neutrophil activation involved in immune response (GO:0002283)4.80765240
17regulation of MHC class I biosynthetic process (GO:0045343)4.61485143
18rRNA transcription (GO:0009303)4.57803686
19negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)4.57306581
20histone H4-K5 acetylation (GO:0043981)4.55365256
21histone H4-K8 acetylation (GO:0043982)4.55365256
22regulation of apoptotic process involved in morphogenesis (GO:1902337)4.54092274
23muscle organ morphogenesis (GO:0048644)4.50299581
24regulation of response to osmotic stress (GO:0047484)4.40128134
25cullin deneddylation (GO:0010388)4.31458895
26GDP-mannose metabolic process (GO:0019673)4.28864536
27positive regulation of gamma-delta T cell activation (GO:0046645)4.26016477
28regulation of cilium movement (GO:0003352)4.21220013
29primitive streak formation (GO:0090009)4.14947631
30maintenance of protein localization in organelle (GO:0072595)4.14483572
31histone H4-K12 acetylation (GO:0043983)4.13963399
32rRNA methylation (GO:0031167)4.10558937
33nucleoside transmembrane transport (GO:1901642)4.08655494
34pyrimidine ribonucleoside catabolic process (GO:0046133)4.07366217
35mitotic sister chromatid segregation (GO:0000070)4.06878193
36hormone catabolic process (GO:0042447)4.00855499
37coenzyme catabolic process (GO:0009109)3.98561954
38protein deneddylation (GO:0000338)3.97028189
39notochord development (GO:0030903)3.95451977
40negative regulation of telomere maintenance (GO:0032205)3.89368569
41protein localization to chromosome, centromeric region (GO:0071459)3.88105084
42formation of translation preinitiation complex (GO:0001731)3.87314125
43positive regulation by symbiont of host defense response (GO:0052509)3.85468246
44modulation by symbiont of host defense response (GO:0052031)3.85468246
45modulation by organism of immune response of other organism involved in symbiotic interaction (GO:003.85468246
46modulation by organism of defense response of other organism involved in symbiotic interaction (GO:03.85468246
47positive regulation by organism of defense response of other organism involved in symbiotic interact3.85468246
48modulation by symbiont of host immune response (GO:0052553)3.85468246
49regulation of translation in response to stress (GO:0043555)3.79508810
50rRNA modification (GO:0000154)3.75375615
51cellular extravasation (GO:0045123)3.74504538
52quinone metabolic process (GO:1901661)3.69986364
53phenol-containing compound catabolic process (GO:0019336)3.67922238
54negative regulation of interleukin-12 production (GO:0032695)3.67556767
55negative regulation of epidermal cell differentiation (GO:0045605)3.65486098
56DNA replication checkpoint (GO:0000076)3.63196587
57positive regulation of DNA-dependent DNA replication (GO:2000105)3.62998824
58phagocytosis, recognition (GO:0006910)3.61047064
59positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.54190909
60intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)3.54009609
61branching involved in mammary gland duct morphogenesis (GO:0060444)3.53425238
62heterochromatin organization (GO:0070828)3.47579685
63response to peptidoglycan (GO:0032494)3.47096720
64response to dietary excess (GO:0002021)3.45965778
65DNA replication-dependent nucleosome assembly (GO:0006335)3.43564554
66DNA replication-dependent nucleosome organization (GO:0034723)3.43564554
67thrombin receptor signaling pathway (GO:0070493)3.31816586
68negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.29573236
69negative regulation of cell killing (GO:0031342)3.29573236
70sister chromatid segregation (GO:0000819)3.28589677
71regulation of telomerase activity (GO:0051972)3.25795917
72regulation of T-helper 1 cell differentiation (GO:0045625)3.22668705
73amino sugar catabolic process (GO:0046348)3.19757015
74regulation of B cell receptor signaling pathway (GO:0050855)3.19708478
75antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.16523258
76cellular modified amino acid catabolic process (GO:0042219)3.11089749
77maternal placenta development (GO:0001893)3.10928216
78vitamin A metabolic process (GO:0006776)3.10432460
79glycosphingolipid catabolic process (GO:0046479)3.10226185
80nucleoside transport (GO:0015858)3.09086087
81neutrophil activation (GO:0042119)3.08735297
82granulocyte activation (GO:0036230)3.07458352
83DNA damage response, detection of DNA damage (GO:0042769)3.03082913
84regulation of gene silencing by RNA (GO:0060966)3.02118339
85regulation of posttranscriptional gene silencing (GO:0060147)3.02118339
86regulation of gene silencing by miRNA (GO:0060964)3.02118339
87retinoic acid receptor signaling pathway (GO:0048384)3.01855609
88positive regulation of B cell differentiation (GO:0045579)3.01796887
89antigen processing and presentation of endogenous antigen (GO:0019883)3.01382895
90positive regulation of protein import into nucleus, translocation (GO:0033160)3.01161184
91immunoglobulin mediated immune response (GO:0016064)3.01121500
92intestinal epithelial cell development (GO:0060576)3.00386476
93chromatin assembly (GO:0031497)2.99796413
94N-acetylneuraminate metabolic process (GO:0006054)2.99388088
95B cell mediated immunity (GO:0019724)2.99054350
96regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.98218653
97antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.97907730
98positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.97000803
99NIK/NF-kappaB signaling (GO:0038061)2.95457304
100pseudouridine synthesis (GO:0001522)2.94783300
101antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.91935420
102regulation of gamma-delta T cell activation (GO:0046643)2.91323785
103nuclear pore complex assembly (GO:0051292)2.90899542
104positive regulation of protein deacetylation (GO:0090312)2.90649367
105endosome to melanosome transport (GO:0035646)2.90246795
106endosome to pigment granule transport (GO:0043485)2.90246795
107thyroid hormone generation (GO:0006590)2.88981313
108oligosaccharide catabolic process (GO:0009313)2.88808893
109regulation of odontogenesis of dentin-containing tooth (GO:0042487)2.88358434
110positive regulation of macrophage cytokine production (GO:0060907)2.87819172
111intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)2.87663413
112cell fate commitment involved in formation of primary germ layer (GO:0060795)2.87279785
113glycolipid catabolic process (GO:0019377)2.85743390
114pinocytosis (GO:0006907)2.85629746
115negative regulation of phagocytosis (GO:0050765)2.84997100
116histone H4-K16 acetylation (GO:0043984)2.83545786
117detection of molecule of bacterial origin (GO:0032490)2.82818221
118regulation of microtubule-based movement (GO:0060632)2.80049252
119detection of other organism (GO:0098543)2.78718277
120T cell migration (GO:0072678)2.78589402
121epoxygenase P450 pathway (GO:0019373)2.78415621
122cell proliferation involved in metanephros development (GO:0072203)2.78194886
123melanosome organization (GO:0032438)2.76716391
124myeloid cell activation involved in immune response (GO:0002275)2.76475033
125barbed-end actin filament capping (GO:0051016)2.75750012
126positive regulation of tissue remodeling (GO:0034105)2.74846387
127macrophage activation involved in immune response (GO:0002281)2.73729841
128keratan sulfate catabolic process (GO:0042340)2.70518491
129bone trabecula formation (GO:0060346)2.70234760
130negative regulation of bone resorption (GO:0045779)2.70020692
131antigen processing and presentation via MHC class Ib (GO:0002475)2.69458683
132L-ascorbic acid metabolic process (GO:0019852)2.69251608
133intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)2.68736113
134regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.68468308
135response to host immune response (GO:0052572)2.68446884
136response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.68446884
137establishment of endothelial barrier (GO:0061028)2.68380831
138regulation of interferon-beta biosynthetic process (GO:0045357)2.68053700
139nuclear pore organization (GO:0006999)2.66661040
140negative regulation of gene silencing (GO:0060969)2.66191206
141regulation of G0 to G1 transition (GO:0070316)2.65047187
142negative regulation of T-helper cell differentiation (GO:0045623)2.65023269
143negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.65023269
144cellular response to arsenic-containing substance (GO:0071243)2.64844287
145primary alcohol catabolic process (GO:0034310)2.63547079
146leukocyte degranulation (GO:0043299)2.63256873
147regulation of telomere maintenance (GO:0032204)2.61209264
148apoptotic DNA fragmentation (GO:0006309)2.60755364
149ribosome biogenesis (GO:0042254)2.60701200
150type I interferon signaling pathway (GO:0060337)2.60479396
151cellular response to type I interferon (GO:0071357)2.60479396
152pore complex assembly (GO:0046931)2.59251884
153response to type I interferon (GO:0034340)2.58303338
154respiratory burst (GO:0045730)2.58270283
155ceramide catabolic process (GO:0046514)2.57363974
156detection of bacterium (GO:0016045)2.55679735
157regulation of mast cell activation (GO:0033003)2.55045696
158B cell homeostasis (GO:0001782)2.54041847
159regulation of interferon-alpha production (GO:0032647)2.51985556
160positive regulation of isotype switching (GO:0045830)2.51431305
161peptide catabolic process (GO:0043171)2.50496782
162detection of external biotic stimulus (GO:0098581)2.49476337
163regulation of dendritic cell antigen processing and presentation (GO:0002604)2.49408502
164regulation of platelet aggregation (GO:0090330)2.49347149
165positive regulation of interferon-alpha production (GO:0032727)2.47926772
166positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.47617567
167negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.46357109
168interferon-gamma-mediated signaling pathway (GO:0060333)2.46118738
169cellular response to thyroid hormone stimulus (GO:0097067)2.45736736
170positive regulation of macrophage differentiation (GO:0045651)2.45429040
171dendritic cell migration (GO:0036336)2.44309990
172negative regulation of innate immune response (GO:0045824)2.43916066
173B cell receptor signaling pathway (GO:0050853)2.41277081
174purinergic nucleotide receptor signaling pathway (GO:0035590)2.40417303
175regulation of platelet activation (GO:0010543)2.40333355
176regulation of alpha-beta T cell proliferation (GO:0046640)2.39017499
177positive regulation of DNA recombination (GO:0045911)2.38843784
178negative thymic T cell selection (GO:0045060)2.37581110
179regulation of B cell differentiation (GO:0045577)2.37089450
180negative regulation of nitric oxide biosynthetic process (GO:0045019)2.36807649
181response to host (GO:0075136)2.32339933
182response to host defenses (GO:0052200)2.32339933
183response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.32339933
184regulation of necroptotic process (GO:0060544)2.32126903
185phagocytosis, engulfment (GO:0006911)2.31502789
186lymphocyte homeostasis (GO:0002260)2.31024577
187UDP-N-acetylglucosamine metabolic process (GO:0006047)2.30672428
188positive regulation of mast cell activation (GO:0033005)2.30272799
189positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.29469548
190neutrophil mediated immunity (GO:0002446)2.27590482
191regulation of antigen processing and presentation (GO:0002577)2.26886040
192negative regulation of T cell mediated immunity (GO:0002710)2.26505574
193regulation of gamma-delta T cell differentiation (GO:0045586)2.26110697
194microglial cell activation (GO:0001774)2.25919617
195regulation of mast cell degranulation (GO:0043304)2.25475822
196positive regulation of interferon-beta production (GO:0032728)2.25010614
197daunorubicin metabolic process (GO:0044597)11.0172464
198polyketide metabolic process (GO:0030638)11.0172464
199doxorubicin metabolic process (GO:0044598)11.0172464

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human6.60832217
2KLF2_18264089_ChIP-ChIP_MESCs_Mouse5.18581035
3KLF5_18264089_ChIP-ChIP_MESCs_Mouse5.18581035
4KLF4_18264089_ChIP-ChIP_MESCs_Mouse5.18581035
5NOTCH1_17114293_ChIP-ChIP_T-ALL_Human4.85862132
6FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.73671182
7* MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.49315328
8STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.27855315
9E2F7_22180533_ChIP-Seq_HELA_Human3.10746657
10IRF8_27001747_Chip-Seq_BMDM_Mouse3.06551308
11* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse3.01964483
12TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.96573913
13MYB_21317192_ChIP-Seq_ERMYB_Mouse2.93436094
14SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.85721551
15NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.80678900
16POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.78910461
17TP63_19390658_ChIP-ChIP_HaCaT_Human2.54119642
18NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.53057930
19SMAD_19615063_ChIP-ChIP_OVARY_Human2.48599974
20NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.48384700
21IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.36741474
22SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.32689440
23STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.27816623
24STAT4_19710469_ChIP-ChIP_TH1__Mouse2.19830657
25LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.19164124
26TCF3_18692474_ChIP-Seq_MEFs_Mouse2.09263502
27SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.08558963
28MYB_26560356_Chip-Seq_TH2_Human1.99962989
29VDR_24787735_ChIP-Seq_THP-1_Human1.94273487
30EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.92221714
31KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.88526906
32RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.88289614
33TCF3_18692474_ChIP-Seq_MESCs_Mouse1.87183307
34E2F4_17652178_ChIP-ChIP_JURKAT_Human1.83800540
35SPI1_23127762_ChIP-Seq_K562_Human1.83241830
36RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.80826319
37STAT3_1855785_ChIP-Seq_MESCs_Mouse1.79314678
38KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.77269948
39NANOG_18555785_ChIP-Seq_MESCs_Mouse1.76776982
40GATA2_21666600_ChIP-Seq_HMVEC_Human1.76655337
41MYB_26560356_Chip-Seq_TH1_Human1.76412820
42HIF1A_21447827_ChIP-Seq_MCF-7_Human1.75908764
43RUNX_20019798_ChIP-Seq_JUKART_Human1.74578901
44NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.66775166
45MYC_18555785_ChIP-Seq_MESCs_Mouse1.65182326
46SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.64605507
47NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.64248641
48CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.63277921
49* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.59596915
50CREB1_15753290_ChIP-ChIP_HEK293T_Human1.58798986
51MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.58022161
52ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.55150261
53FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.54519276
54* CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.53954490
55NOTCH1_21737748_ChIP-Seq_TLL_Human1.52950322
56LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.48102909
57YY1_21170310_ChIP-Seq_MESCs_Mouse1.46048983
58EST1_17652178_ChIP-ChIP_JURKAT_Human1.45372437
59BRD4_27068464_Chip-Seq_AML-cells_Mouse1.45370301
60PU_27001747_Chip-Seq_BMDM_Mouse1.44706808
61* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.43368069
62NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.42759100
63NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.42746533
64GABP_17652178_ChIP-ChIP_JURKAT_Human1.42187320
65GATA3_26560356_Chip-Seq_TH2_Human1.41982810
66POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.40723964
67FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.39325168
68NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.38572508
69POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.37965966
70* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.36238372
71E2F1_18555785_ChIP-Seq_MESCs_Mouse1.35799322
72SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.35404196
73ELK1_19687146_ChIP-ChIP_HELA_Human1.35305171
74FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.34513388
75* MYC_19079543_ChIP-ChIP_MESCs_Mouse1.32632498
76* STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.32525171
77JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.31641754
78VDR_24763502_ChIP-Seq_THP-1_Human1.31027674
79MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.30872708
80IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.30834392
81IRF1_19129219_ChIP-ChIP_H3396_Human1.30473175
82* RUNX1_22412390_ChIP-Seq_EML_Mouse1.29936617
83* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.28670808
84ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.28454970
85NANOG_18692474_ChIP-Seq_MEFs_Mouse1.28370407
86* OCT4_18692474_ChIP-Seq_MEFs_Mouse1.27971700
87* GATA2_22383799_ChIP-Seq_G1ME_Mouse1.27620352
88CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.25772946
89CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.25318673
90GATA3_27048872_Chip-Seq_THYMUS_Human1.24472234
91IRF8_21731497_ChIP-ChIP_J774_Mouse1.22946771
92POU5F1_16518401_ChIP-PET_MESCs_Mouse1.20875953
93PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.20438017
94WT1_19549856_ChIP-ChIP_CCG9911_Human1.20142980
95SOX2_18692474_ChIP-Seq_MEFs_Mouse1.19817272
96VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.18809951
97IRF8_22096565_ChIP-ChIP_GC-B_Human1.18475400
98MAF_26560356_Chip-Seq_TH1_Human1.17977455
99FOXP3_21729870_ChIP-Seq_TREG_Human1.17495574
100UTX_26944678_Chip-Seq_JUKART_Human1.16981225
101RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.16373488
102SRF_21415370_ChIP-Seq_HL-1_Mouse1.16164365
103* MYC_22102868_ChIP-Seq_BL_Human1.15118712
104EGR1_23403033_ChIP-Seq_LIVER_Mouse1.14854887
105TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.14791546
106ELF1_17652178_ChIP-ChIP_JURKAT_Human1.14588130
107* TFEB_21752829_ChIP-Seq_HELA_Human1.14548368
108NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.14094238
109SOX2_18555785_ChIP-Seq_MESCs_Mouse1.13617261
110FOXM1_23109430_ChIP-Seq_U2OS_Human1.13266961
111E2F1_17053090_ChIP-ChIP_MCF-7_Human1.12967402
112ERG_20887958_ChIP-Seq_HPC-7_Mouse1.12789542
113* POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.11070011
114CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.10804759
115GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.09791054
116BRD4_25478319_ChIP-Seq_HGPS_Human1.09485574
117SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.06464557
118* PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.05988247
119MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.05693858
120NANOG_18692474_ChIP-Seq_MESCs_Mouse1.05479105
121CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.05326539
122SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.05020206
123E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.05009295
124* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.04416096
125CDX2_20551321_ChIP-Seq_CACO-2_Human1.04342021
126ETS1_20019798_ChIP-Seq_JURKAT_Human1.03217791
127ZFP281_18757296_ChIP-ChIP_E14_Mouse1.02661046
128CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.01772627
129SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.01534972
130GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.00826907
131SOX2_18692474_ChIP-Seq_MESCs_Mouse0.99565454
132RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.99123883
133* SPI1_23547873_ChIP-Seq_NB4_Human0.97890167
134* GABP_19822575_ChIP-Seq_HepG2_Human0.97263054
135* TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.96984359
136ELK1_22589737_ChIP-Seq_MCF10A_Human0.96938919
137GATA1_19941827_ChIP-Seq_MEL_Mouse0.96776042
138ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.95620474
139* NELFA_20434984_ChIP-Seq_ESCs_Mouse0.95497532
140JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.95243361
141EGR1_19374776_ChIP-ChIP_THP-1_Human0.95097240
142YY1_22570637_ChIP-Seq_MALME-3M_Human0.94790204
143JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.94307517
144GATA1_22383799_ChIP-Seq_G1ME_Mouse0.94036810
145HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.93790662
146TAL1_20887958_ChIP-Seq_HPC-7_Mouse0.93709165
147NRF2_20460467_ChIP-Seq_MEFs_Mouse0.93203516
148NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.93203516
149FLI1_27457419_Chip-Seq_LIVER_Mouse0.92950306
150* FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92448720
151GATA2_19941826_ChIP-Seq_K562_Human0.92356290
152SCL_19346495_ChIP-Seq_HPC-7_Human0.91755472
153NANOG_21062744_ChIP-ChIP_HESCs_Human0.91700226
154ELK3_25401928_ChIP-Seq_HUVEC_Human0.90805569
155TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.89985206
156* XRN2_22483619_ChIP-Seq_HELA_Human0.88903410
157GATA1_19941826_ChIP-Seq_K562_Human0.87878822
158ELF1_20517297_ChIP-Seq_JURKAT_Human0.87656978
159KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.86531334
160SIN3A_21632747_ChIP-Seq_MESCs_Mouse0.86295870
161STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.84704015
162NANOG_16518401_ChIP-PET_MESCs_Mouse0.84148107
163ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.83927792
164GATA1_22025678_ChIP-Seq_K562_Human0.83636466
165VDR_23849224_ChIP-Seq_CD4+_Human0.83422772
166PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.83405995
167PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.83403198
168SALL4_22934838_ChIP-ChIP_CD34+_Human0.82856444
169FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.82610451
170* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.81420407
171NANOG_16153702_ChIP-ChIP_HESCs_Human0.80877076
172CDX2_19796622_ChIP-Seq_MESCs_Mouse0.80775213
173* SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.79523310
174TP53_22127205_ChIP-Seq_IMR90_Human0.78353022
175ZFX_18555785_ChIP-Seq_MESCs_Mouse0.78097653

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002254_reproductive_system_inflammat4.48293148
2MP0003011_delayed_dark_adaptation4.11611897
3MP0004264_abnormal_extraembryonic_tissu3.99497141
4MP0006292_abnormal_olfactory_placode3.34842331
5MP0005394_taste/olfaction_phenotype3.22382677
6MP0005499_abnormal_olfactory_system3.22382677
7MP0005257_abnormal_intraocular_pressure3.03042336
8MP0005075_abnormal_melanosome_morpholog2.99447190
9MP0005464_abnormal_platelet_physiology2.97129501
10MP0003724_increased_susceptibility_to2.96052941
11MP0003303_peritoneal_inflammation2.89383719
12MP0003122_maternal_imprinting2.85749710
13MP0003183_abnormal_peptide_metabolism2.80248513
14MP0004858_abnormal_nervous_system2.75462782
15MP0005058_abnormal_lysosome_morphology2.64824759
16MP0003890_abnormal_embryonic-extraembry2.50671821
17MP0003705_abnormal_hypodermis_morpholog2.47193703
18MP0000678_abnormal_parathyroid_gland2.35103504
19MP0009840_abnormal_foam_cell2.32205402
20MP0003300_gastrointestinal_ulcer2.29873539
21MP0000685_abnormal_immune_system2.28934634
22MP0002419_abnormal_innate_immunity2.20411983
23MP0006054_spinal_hemorrhage2.19476204
24MP0002148_abnormal_hypersensitivity_rea2.14823908
25MP0006082_CNS_inflammation2.13922130
26MP0004957_abnormal_blastocyst_morpholog2.07701159
27MP0002332_abnormal_exercise_endurance2.07692498
28MP0003806_abnormal_nucleotide_metabolis2.02648853
29MP0005451_abnormal_body_composition2.02355697
30MP0000569_abnormal_digit_pigmentation1.98373534
31MP0008057_abnormal_DNA_replication1.98257425
32MP0010352_gastrointestinal_tract_polyps1.94682486
33MP0003121_genomic_imprinting1.93409065
34MP0002723_abnormal_immune_serum1.89109299
35MP0002277_abnormal_respiratory_mucosa1.86538349
36MP0010030_abnormal_orbit_morphology1.81680545
37MP0008789_abnormal_olfactory_epithelium1.80230425
38MP0003172_abnormal_lysosome_physiology1.76776877
39MP0009764_decreased_sensitivity_to1.75521826
40MP0003950_abnormal_plasma_membrane1.73562221
41MP0002653_abnormal_ependyma_morphology1.70193166
42MP0006035_abnormal_mitochondrial_morpho1.70016811
43MP0002877_abnormal_melanocyte_morpholog1.69193215
44MP0000015_abnormal_ear_pigmentation1.66151045
45MP0001845_abnormal_inflammatory_respons1.46802207
46MP0003191_abnormal_cellular_cholesterol1.45803610
47MP0000371_diluted_coat_color1.45296215
48MP0001533_abnormal_skeleton_physiology1.42692316
49MP0010155_abnormal_intestine_physiology1.40960876
50MP0002398_abnormal_bone_marrow1.40952211
51MP0008260_abnormal_autophagy1.40853019
52MP0003656_abnormal_erythrocyte_physiolo1.40403783
53MP0003646_muscle_fatigue1.40344765
54MP0001348_abnormal_lacrimal_gland1.38684374
55MP0003448_altered_tumor_morphology1.37855387
56MP0001293_anophthalmia1.35866051
57MP0001835_abnormal_antigen_presentation1.34798655
58MP0000716_abnormal_immune_system1.34381598
59MP0005380_embryogenesis_phenotype1.31634707
60MP0001672_abnormal_embryogenesis/_devel1.31634707
61MP0002127_abnormal_cardiovascular_syste1.31190825
62MP0000343_altered_response_to1.30909720
63MP0000858_altered_metastatic_potential1.30429773
64MP0003123_paternal_imprinting1.28048152
65MP0002088_abnormal_embryonic_growth/wei1.27801673
66MP0001545_abnormal_hematopoietic_system1.26906280
67MP0005397_hematopoietic_system_phenotyp1.26906280
68MP0001849_ear_inflammation1.26220349
69MP0005023_abnormal_wound_healing1.25898058
70MP0003077_abnormal_cell_cycle1.25754842
71MP0003984_embryonic_growth_retardation1.25078400
72MP0008007_abnormal_cellular_replicative1.24766409
73MP0000465_gastrointestinal_hemorrhage1.21926833
74MP0002998_abnormal_bone_remodeling1.20406315
75MP0009278_abnormal_bone_marrow1.18350799
76MP0002932_abnormal_joint_morphology1.17701469
77MP0008469_abnormal_protein_level1.14914289
78MP0002132_abnormal_respiratory_system1.14825088
79MP0003763_abnormal_thymus_physiology1.11873967
80MP0000049_abnormal_middle_ear1.11087758
81MP0004510_myositis1.10329644
82MP0000490_abnormal_crypts_of1.09876185
83MP0004947_skin_inflammation1.09343742
84MP0003221_abnormal_cardiomyocyte_apopto1.09307866
85MP0009785_altered_susceptibility_to1.08749031
86MP0003436_decreased_susceptibility_to1.08580068
87MP0003938_abnormal_ear_development1.08234254
88MP0000350_abnormal_cell_proliferation1.07755714
89MP0005083_abnormal_biliary_tract1.06956252
90MP0002092_abnormal_eye_morphology1.06584624
91MP0005174_abnormal_tail_pigmentation1.06181674
92MP0002102_abnormal_ear_morphology1.05280799
93MP0009763_increased_sensitivity_to1.04107171
94MP0001853_heart_inflammation1.02876685
95MP0002138_abnormal_hepatobiliary_system1.01792105
96MP0004782_abnormal_surfactant_physiolog1.00778531
97MP0005671_abnormal_response_to0.98850546
98MP0002405_respiratory_system_inflammati0.98741477
99MP0005266_abnormal_metabolism0.98452566
100MP0005508_abnormal_skeleton_morphology0.98100091
101MP0003091_abnormal_cell_migration0.97811704
102MP0005171_absent_coat_pigmentation0.97647489
103MP0003186_abnormal_redox_activity0.97232227
104MP0000604_amyloidosis0.97106969
105MP0000762_abnormal_tongue_morphology0.96785237
106MP0005000_abnormal_immune_tolerance0.94248400
107MP0005197_abnormal_uvea_morphology0.94126596
108MP0008961_abnormal_basal_metabolism0.93088566
109MP0002086_abnormal_extraembryonic_tissu0.92219754
110MP0004133_heterotaxia0.91598115
111MP0002139_abnormal_hepatobiliary_system0.91381623
112MP0002970_abnormal_white_adipose0.91056235
113MP0000372_irregular_coat_pigmentation0.89424475
114MP0000313_abnormal_cell_death0.89409624
115MP0008004_abnormal_stomach_pH0.88982239
116MP0008438_abnormal_cutaneous_collagen0.88455626
117MP0005164_abnormal_response_to0.86913144
118MP0000358_abnormal_cell_content/0.86278049
119MP0005408_hypopigmentation0.86084067
120MP0002233_abnormal_nose_morphology0.83488689
121MP0003279_aneurysm0.83021359
122MP0001851_eye_inflammation0.82975950
123MP0005310_abnormal_salivary_gland0.82197678
124MP0010368_abnormal_lymphatic_system0.81312787
125MP0002396_abnormal_hematopoietic_system0.80873235
126MP0003119_abnormal_digestive_system0.80671628
127MP0002085_abnormal_embryonic_tissue0.80117560
128MP0000249_abnormal_blood_vessel0.78737135
129MP0000428_abnormal_craniofacial_morphol0.76577908
130MP0003566_abnormal_cell_adhesion0.76208593
131MP0003136_yellow_coat_color0.75855815
132MP0002751_abnormal_autonomic_nervous0.75572507
133MP0001800_abnormal_humoral_immune0.75158257
134MP0004272_abnormal_basement_membrane0.74580390
135MP0005365_abnormal_bile_salt0.74173467
136MP0005165_increased_susceptibility_to0.73911789
137MP0002722_abnormal_immune_system0.73713756
138MP0003195_calcinosis0.72906131
139MP0005025_abnormal_response_to0.72621655
140MP0000703_abnormal_thymus_morphology0.70610754
141MP0003315_abnormal_perineum_morphology0.70505041
142MP0009333_abnormal_splenocyte_physiolog0.70366454
143MP0000689_abnormal_spleen_morphology0.69818435
144MP0001243_abnormal_dermal_layer0.68528390
145MP0002019_abnormal_tumor_incidence0.68457123
146MP0008932_abnormal_embryonic_tissue0.68210810
147MP0002166_altered_tumor_susceptibility0.67865350
148MP0002114_abnormal_axial_skeleton0.67515696
149MP0001790_abnormal_immune_system0.67293979
150MP0005387_immune_system_phenotype0.67293979
151MP0004883_abnormal_blood_vessel0.67287406
152MP0003828_pulmonary_edema0.67207726
153MP0005384_cellular_phenotype0.67198127
154MP0002420_abnormal_adaptive_immunity0.67155111
155MP0004233_abnormal_muscle_weight0.67122843
156MP0001819_abnormal_immune_cell0.66618012
157MP0002452_abnormal_antigen_presenting0.66600460
158MP0002429_abnormal_blood_cell0.66201193
159MP0002925_abnormal_cardiovascular_devel0.65670609
160MP0001270_distended_abdomen0.65530750
161MP0004808_abnormal_hematopoietic_stem0.65038752
162MP0004484_altered_response_of0.63827480

Predicted human phenotypes

RankGene SetZ-score
1Bilateral microphthalmos (HP:0007633)7.04996500
2Hepatoblastoma (HP:0002884)5.61239589
3Multiple enchondromatosis (HP:0005701)5.33285013
4Vacuolated lymphocytes (HP:0001922)4.71620032
5Hypochromic microcytic anemia (HP:0004840)4.68342457
6Abnormality of macrophages (HP:0004311)4.17714772
7Increased cerebral lipofuscin (HP:0011813)4.15920937
8Ependymoma (HP:0002888)4.06182567
9Aplasia/Hypoplasia of the fovea (HP:0008060)3.99217049
10Hypoplasia of the fovea (HP:0007750)3.99217049
11Recurrent abscess formation (HP:0002722)3.96711151
12Rib fusion (HP:0000902)3.96229881
13Reduced antithrombin III activity (HP:0001976)3.91610025
14Recurrent bacterial skin infections (HP:0005406)3.88433366
15Spontaneous hematomas (HP:0007420)3.74707215
16Eczematoid dermatitis (HP:0000976)3.73943502
17Increased neuronal autofluorescent lipopigment (HP:0002074)3.72325103
18Petechiae (HP:0000967)3.64528657
19Abnormality of the lower motor neuron (HP:0002366)3.53885242
20Loss of speech (HP:0002371)3.51593783
21Abnormality of glycolipid metabolism (HP:0010969)3.36276275
22Abnormality of liposaccharide metabolism (HP:0010968)3.36276275
23Abnormality of glycosphingolipid metabolism (HP:0004343)3.36276275
24Nephroblastoma (Wilms tumor) (HP:0002667)3.35545846
25T lymphocytopenia (HP:0005403)3.35035309
26Abnormality of the vasculature of the conjunctiva (HP:0008054)3.34978494
27Abnormality of T cell number (HP:0011839)3.34390435
28Combined immunodeficiency (HP:0005387)3.34086566
29Hyperinsulinemic hypoglycemia (HP:0000825)3.33925220
30Hematochezia (HP:0002573)3.27050224
31Rhabdomyosarcoma (HP:0002859)3.24966044
32Prolonged bleeding time (HP:0003010)3.24790215
33Neoplasm of striated muscle (HP:0009728)3.23985582
34Chromosomal breakage induced by crosslinking agents (HP:0003221)3.19991815
35Type I transferrin isoform profile (HP:0003642)3.18977952
36Embryonal renal neoplasm (HP:0011794)3.15070484
37Albinism (HP:0001022)3.13891442
38Abnormal delayed hypersensitivity skin test (HP:0002963)3.11156414
39Fused cervical vertebrae (HP:0002949)3.06465834
40Dysostosis multiplex (HP:0000943)3.02443829
41Trismus (HP:0000211)3.02273470
42Conjunctival telangiectasia (HP:0000524)3.01876206
43Ragged-red muscle fibers (HP:0003200)2.97242351
44Tongue fasciculations (HP:0001308)2.94494501
45Abnormality of the fovea (HP:0000493)2.93203675
46Rectal fistula (HP:0100590)2.92254689
47Rectovaginal fistula (HP:0000143)2.92254689
48Panhypogammaglobulinemia (HP:0003139)2.91834555
49Abnormality of the intrinsic pathway (HP:0010989)2.89564839
50Abnormality of the salivary glands (HP:0010286)2.88152588
51Recurrent fungal infections (HP:0002841)2.84614273
52Abnormal lung lobation (HP:0002101)2.84281740
53Abnormal cartilage morphology (HP:0002763)2.83731073
54Recurrent viral infections (HP:0004429)2.80962424
55Abnormal platelet volume (HP:0011876)2.78928044
56Anomalous pulmonary venous return (HP:0010772)2.77530387
57Bifid tongue (HP:0010297)2.77516979
58Epistaxis (HP:0000421)2.70852272
59Partial duplication of thumb phalanx (HP:0009944)2.69652130
60Muscle fibrillation (HP:0010546)2.68111823
61Aplasia/Hypoplasia of the macula (HP:0008059)2.67665827
62Aplasia/hypoplasia of the humerus (HP:0006507)2.66993286
63Degeneration of anterior horn cells (HP:0002398)2.66968791
64Abnormality of the anterior horn cell (HP:0006802)2.66968791
65Astrocytoma (HP:0009592)2.66393669
66Abnormality of the astrocytes (HP:0100707)2.66393669
67Atrophy/Degeneration involving motor neurons (HP:0007373)2.66334431
68Chronic mucocutaneous candidiasis (HP:0002728)2.64412922
69Recurrent cutaneous fungal infections (HP:0011370)2.64412922
70Increased IgM level (HP:0003496)2.63381293
71Vaginal fistula (HP:0004320)2.63109443
72Increased mean platelet volume (HP:0011877)2.62047286
73Short humerus (HP:0005792)2.61047208
74Chromsome breakage (HP:0040012)2.57993931
75Abnormality of T cells (HP:0002843)2.56469892
76Retrobulbar optic neuritis (HP:0100654)2.54909364
77Optic neuritis (HP:0100653)2.54909364
78Encephalitis (HP:0002383)2.53901638
79Intestinal fistula (HP:0100819)2.53227470
80Autoimmune thrombocytopenia (HP:0001973)2.53178490
81Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.52711933
82Increased serum pyruvate (HP:0003542)2.48523810
83Abnormality of glycolysis (HP:0004366)2.48523810
84Myocardial infarction (HP:0001658)2.47380605
85Peritonitis (HP:0002586)2.46642168
86Purpura (HP:0000979)2.45392042
87Recurrent skin infections (HP:0001581)2.42639160
88Chronic diarrhea (HP:0002028)2.41467889
89Gingival bleeding (HP:0000225)2.41150538
90Stomatitis (HP:0010280)2.39765446
91Abnormality of the pulmonary veins (HP:0011718)2.39210851
92Preauricular skin tag (HP:0000384)2.38881754
93Elevated erythrocyte sedimentation rate (HP:0003565)2.38692663
94Mediastinal lymphadenopathy (HP:0100721)2.38176303
95Eosinophilia (HP:0001880)2.34809985
96Spinal muscular atrophy (HP:0007269)2.33550075
97Meckel diverticulum (HP:0002245)2.32517159
98Partial duplication of the phalanx of hand (HP:0009999)2.32348099
99Hepatosplenomegaly (HP:0001433)2.32044770
100Aplasia/Hypoplasia affecting the retina (HP:0008061)2.31670541
101Abnormality of T cell physiology (HP:0011840)2.29248505
102Skin nodule (HP:0200036)2.28322024
103Testicular atrophy (HP:0000029)2.27374679
104Hypochromic anemia (HP:0001931)2.26563264
105Aplasia/Hypoplasia of the uvula (HP:0010293)2.25018163
106Leukocytosis (HP:0001974)2.24678957
107Autoimmune hemolytic anemia (HP:0001890)2.23546962
108Meningitis (HP:0001287)2.22967166
109Granulocytopenia (HP:0001913)2.21438052
110Amyotrophic lateral sclerosis (HP:0007354)2.21326900
111Upper motor neuron abnormality (HP:0002127)2.20575058
112Angiofibromas (HP:0010615)2.19854697
113Adenoma sebaceum (HP:0009720)2.19854697
114Hand muscle atrophy (HP:0009130)2.19459541
115Shawl scrotum (HP:0000049)2.18065285
116Generalized hypotonia (HP:0001290)2.17844020
117Orchitis (HP:0100796)2.17788072
118Cheilitis (HP:0100825)2.15381673
119Abnormality of polysaccharide metabolism (HP:0011012)2.15338094
120Abnormality of glycosaminoglycan metabolism (HP:0004371)2.15338094
121Abnormality of mucopolysaccharide metabolism (HP:0011020)2.15338094
122Abnormality of B cell number (HP:0010975)2.14908831
123Glossoptosis (HP:0000162)2.14723155
124Abnormality of the ileum (HP:0001549)2.13389892
125IgA deficiency (HP:0002720)2.12176944
126Periauricular skin pits (HP:0100277)2.11561930
127Preauricular pit (HP:0004467)2.11561930
128Pustule (HP:0200039)2.10934517
129Horizontal nystagmus (HP:0000666)2.10621279
130Tetraparesis (HP:0002273)2.09603594
131Microvesicular hepatic steatosis (HP:0001414)2.08989913
132Disinhibition (HP:0000734)2.08403356
133Amaurosis fugax (HP:0100576)2.07688911
134Mucosal telangiectasiae (HP:0100579)2.06849471
135Abnormality of the motor neurons (HP:0002450)2.06215485
136Abnormal neuron morphology (HP:0012757)2.06215485
137Viral hepatitis (HP:0006562)2.05985488
138Increased serum ferritin (HP:0003281)2.04848028
139Nasolacrimal duct obstruction (HP:0000579)2.02642407
140Short 5th finger (HP:0009237)2.02050798
141Abnormality of small intestinal villus morphology (HP:0011472)2.01908360
142Villous atrophy (HP:0011473)2.01908360
143Fasciculations (HP:0002380)2.01453192
144Recurrent gram-negative bacterial infections (HP:0005420)2.01310962
145Abnormality of iron homeostasis (HP:0011031)2.00099986
146Osteomyelitis (HP:0002754)1.99999981
147IgG deficiency (HP:0004315)1.97366941
148Hemoptysis (HP:0002105)1.97250031
149Skin tags (HP:0010609)1.97174940
150Gastrointestinal infarctions (HP:0005244)1.96992764
151Facial diplegia (HP:0001349)1.95792581
152Vasculitis (HP:0002633)1.95726458
153Urinary glycosaminoglycan excretion (HP:0003541)1.95345601
154Mucopolysacchariduria (HP:0008155)1.95345601
155Menorrhagia (HP:0000132)1.94500928
156Poor head control (HP:0002421)1.93338755
157Neoplasm of the heart (HP:0100544)1.93000652
158Increased connective tissue (HP:0009025)1.92093814
159Spondylolisthesis (HP:0003302)1.91538666
160Facial cleft (HP:0002006)1.89927985
161Agammaglobulinemia (HP:0004432)1.89866253
162Abnormality of chromosome segregation (HP:0002916)1.87398286
163Systemic lupus erythematosus (HP:0002725)1.86817814
164Glioma (HP:0009733)1.86105641
165Small intestinal stenosis (HP:0012848)1.85969669
166Duodenal stenosis (HP:0100867)1.85969669
167Chest pain (HP:0100749)1.85830572
168Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.83869061
169Abnormal protein N-linked glycosylation (HP:0012347)1.83869061
170Abnormal protein glycosylation (HP:0012346)1.83869061
171Abnormal glycosylation (HP:0012345)1.83869061
172Aplastic anemia (HP:0001915)1.83767029
173Microretrognathia (HP:0000308)1.83517902
174Myositis (HP:0100614)1.83367547
175Webbed neck (HP:0000465)1.83135058
176Nemaline bodies (HP:0003798)1.82410621
177IgM deficiency (HP:0002850)1.81981774
178Inflammation of the large intestine (HP:0002037)1.81159196
179Abnormality of eosinophils (HP:0001879)1.81051566
180Mutism (HP:0002300)1.80357818
181Cortical dysplasia (HP:0002539)1.79674766
182Cholecystitis (HP:0001082)1.77907293
183Abnormal gallbladder physiology (HP:0012438)1.77907293
184Lymphopenia (HP:0001888)1.77777360
185Abnormality of transition element cation homeostasis (HP:0011030)1.77152735
186B lymphocytopenia (HP:0010976)1.76925547
187Hyperlipoproteinemia (HP:0010980)1.76739641
188Polyneuropathy (HP:0001271)1.74659906
189Urticaria (HP:0001025)1.74054257
190Hydroxyprolinuria (HP:0003080)1.73573283

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK126.96440050
2ERN15.83708284
3GRK54.43977302
4GRK63.85562191
5ACVR1B3.73630376
6CSF1R3.21208932
7TGFBR23.02872411
8ADRBK22.83073254
9TRIM282.66709385
10GRK12.64331966
11STK102.58548737
12GRK72.48770785
13RIPK42.44755042
14MATK2.42412100
15MAP3K142.27083412
16PRPF4B2.22866824
17MOS2.19572041
18NEK92.13120438
19FGR2.05291872
20MAP4K12.01514018
21TYRO32.00782047
22MAPK71.99634320
23TEC1.97543144
24MAP2K31.86636351
25FRK1.70055932
26TTK1.68182681
27MAP3K131.65021767
28TNIK1.64923443
29PIK3CG1.63239040
30EIF2AK31.60469789
31PAK41.59637395
32PRKG21.57006244
33MST41.46108566
34MYLK1.45963235
35CDK71.43537244
36BTK1.41482197
37EPHB11.38344328
38BMPR21.38316546
39FGFR31.37411717
40MARK31.33472561
41BUB11.32991368
42MAP4K21.27431973
43EPHA21.24993447
44IRAK31.23791962
45ERBB31.21027872
46WNK11.20788945
47HIPK21.19595087
48MAP3K31.17276370
49MAP3K51.12379772
50BLK1.11459540
51NUAK11.09012071
52PIM21.08844557
53IKBKE1.08439704
54PTK2B1.06928781
55TAOK31.06351524
56ADRBK11.04848563
57FES0.98856754
58CAMK40.98321032
59CHEK20.95740103
60MELK0.95050148
61PLK10.91673499
62CSK0.91344714
63JAK20.90240249
64ITK0.89544861
65BMPR1B0.89043044
66NTRK10.85559294
67KIT0.82333665
68BMX0.81705186
69MAPKAPK30.79603344
70IRAK10.77887376
71TYK20.77455983
72TRPM70.76645736
73EIF2AK10.75832686
74TESK20.73808408
75FLT30.73505232
76DYRK20.73460867
77ZAK0.73213706
78TIE10.72516711
79BRSK20.72104533
80IKBKB0.69091085
81EIF2AK20.66468285
82STK30.65442778
83BCKDK0.65044165
84NME20.64837068
85MARK20.64185635
86PASK0.62702252
87PRKCD0.61733649
88PRKCQ0.61596374
89CDK60.61408229
90MAP2K60.60863766
91CHUK0.60805564
92MAP3K100.60759482
93TRIB30.60335641
94FGFR40.58131863
95AKT30.58121562
96IGF1R0.56872430
97ABL10.56590761
98LRRK20.54903208
99NEK10.54240486
100PRKCI0.53542773
101AKT20.53320081
102PTK20.53114543
103YES10.52829798
104PAK30.52798157
105TESK10.52443477
106MAPKAPK20.52167471
107INSRR0.51437188
108CAMKK20.50723614
109EGFR0.49450173
110AURKA0.49220033
111FER0.48746353
112SRPK10.48115414
113MAPK110.47668323
114SCYL20.47367190
115OBSCN0.47353754
116KSR10.46484566
117PRKD20.45162266
118NEK20.45107182
119CHEK10.44813818
120IRAK40.44716942
121PKN20.42848701
122TTN0.42731645
123PAK10.42446205
124SIK30.41507982
125PBK0.41274307
126PIM10.41014477
127CDC42BPA0.40955790
128EPHA30.40052546
129JAK30.39954747
130STK40.38884587
131NLK0.38542984
132TAOK10.38088494
133ZAP700.36782043
134KSR20.36779504
135TBK10.32203741
136BCR0.32118288
137RPS6KB20.31875564
138CDK80.31840760
139TGFBR10.31526290
140HCK0.30764638
141MTOR0.30480280
142VRK10.29939918
143DDR20.29878050
144PDGFRA0.29740935
145JAK10.29657703
146INSR0.27696992
147LCK0.26723748
148CDK20.25409078
149ALK0.25266171
150DYRK1B0.24000724
151ERBB20.23394108
152DYRK30.22798060
153AURKB0.21608140
154ARAF0.21333592
155MAPK120.20587676
156KDR0.19676295
157LATS20.18844231
158SYK0.18827412
159TAOK20.16155464
160TXK0.15443280
161PTK60.15377151
162MAP2K40.15373944
163LYN0.15117052

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006035.47572530
2Vitamin B6 metabolism_Homo sapiens_hsa007504.05855980
3Fructose and mannose metabolism_Homo sapiens_hsa000513.82852278
4Galactose metabolism_Homo sapiens_hsa000523.47784418
5Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.83469032
6Glycosaminoglycan degradation_Homo sapiens_hsa005312.59001663
7Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.41991588
8Allograft rejection_Homo sapiens_hsa053302.29860422
9Other glycan degradation_Homo sapiens_hsa005112.28534450
10Arachidonic acid metabolism_Homo sapiens_hsa005902.19445341
11Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.15352100
12Osteoclast differentiation_Homo sapiens_hsa043802.06002764
13Autoimmune thyroid disease_Homo sapiens_hsa053202.00874639
14Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.91517341
15Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.85727382
16Sulfur metabolism_Homo sapiens_hsa009201.79868345
17Pentose and glucuronate interconversions_Homo sapiens_hsa000401.73375742
18NOD-like receptor signaling pathway_Homo sapiens_hsa046211.67720435
19Rheumatoid arthritis_Homo sapiens_hsa053231.62261719
20SNARE interactions in vesicular transport_Homo sapiens_hsa041301.55689200
21Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.55322413
22Asthma_Homo sapiens_hsa053101.55044802
23Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.53440485
24Lysosome_Homo sapiens_hsa041421.53265276
25Viral myocarditis_Homo sapiens_hsa054161.52823433
26Platelet activation_Homo sapiens_hsa046111.52376469
27Regulation of autophagy_Homo sapiens_hsa041401.51481662
28Proteasome_Homo sapiens_hsa030501.49459330
29Hematopoietic cell lineage_Homo sapiens_hsa046401.48975454
30DNA replication_Homo sapiens_hsa030301.46208880
31Thyroid cancer_Homo sapiens_hsa052161.45422924
32Shigellosis_Homo sapiens_hsa051311.40454492
33TNF signaling pathway_Homo sapiens_hsa046681.34636014
34Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.34363578
35Base excision repair_Homo sapiens_hsa034101.31520976
36Pentose phosphate pathway_Homo sapiens_hsa000301.25033012
37RNA transport_Homo sapiens_hsa030131.24994096
38Mismatch repair_Homo sapiens_hsa034301.23840913
39Linoleic acid metabolism_Homo sapiens_hsa005911.23765171
40Primary immunodeficiency_Homo sapiens_hsa053401.22553917
41Type I diabetes mellitus_Homo sapiens_hsa049401.21815454
42RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.20420100
43Hepatitis B_Homo sapiens_hsa051611.16875616
44Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.14619904
45Chemokine signaling pathway_Homo sapiens_hsa040621.13705289
46Leishmaniasis_Homo sapiens_hsa051401.12633273
47Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.11233735
48alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.07933598
49Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.06103380
50Apoptosis_Homo sapiens_hsa042101.05844450
51Ribosome_Homo sapiens_hsa030101.02041445
52p53 signaling pathway_Homo sapiens_hsa041151.01911477
53Legionellosis_Homo sapiens_hsa051340.99488557
54Pertussis_Homo sapiens_hsa051330.98030433
55NF-kappa B signaling pathway_Homo sapiens_hsa040640.97000476
56Antigen processing and presentation_Homo sapiens_hsa046120.96446798
57Cell cycle_Homo sapiens_hsa041100.95680947
58T cell receptor signaling pathway_Homo sapiens_hsa046600.95377066
59Fanconi anemia pathway_Homo sapiens_hsa034600.94232225
60mTOR signaling pathway_Homo sapiens_hsa041500.85097070
61Chemical carcinogenesis_Homo sapiens_hsa052040.79772122
62Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.78582429
63Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.78461535
64Carbon metabolism_Homo sapiens_hsa012000.78105347
65Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.76425272
66Herpes simplex infection_Homo sapiens_hsa051680.76334157
67Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.76221639
68Hepatitis C_Homo sapiens_hsa051600.75303763
69Leukocyte transendothelial migration_Homo sapiens_hsa046700.74910471
70Transcriptional misregulation in cancer_Homo sapiens_hsa052020.74656243
71One carbon pool by folate_Homo sapiens_hsa006700.73448927
72Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.73326893
73Folate biosynthesis_Homo sapiens_hsa007900.72456345
74Sphingolipid metabolism_Homo sapiens_hsa006000.70489721
75Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.70341379
76Phagosome_Homo sapiens_hsa041450.70322324
77Epstein-Barr virus infection_Homo sapiens_hsa051690.69526523
78Salmonella infection_Homo sapiens_hsa051320.69447015
79Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.69305832
80Graft-versus-host disease_Homo sapiens_hsa053320.69177829
81Acute myeloid leukemia_Homo sapiens_hsa052210.68796406
82Primary bile acid biosynthesis_Homo sapiens_hsa001200.68183829
83Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.65802126
84Regulation of actin cytoskeleton_Homo sapiens_hsa048100.63935871
85Central carbon metabolism in cancer_Homo sapiens_hsa052300.62637941
86Drug metabolism - other enzymes_Homo sapiens_hsa009830.62412893
87Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.62185357
88Intestinal immune network for IgA production_Homo sapiens_hsa046720.62051284
89Renin-angiotensin system_Homo sapiens_hsa046140.58755008
90Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.58615558
91RNA degradation_Homo sapiens_hsa030180.58402677
92Pathways in cancer_Homo sapiens_hsa052000.57499844
93Renal cell carcinoma_Homo sapiens_hsa052110.57378737
94Bladder cancer_Homo sapiens_hsa052190.56491608
95Selenocompound metabolism_Homo sapiens_hsa004500.56420314
96Notch signaling pathway_Homo sapiens_hsa043300.55867227
97Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.55337883
98Starch and sucrose metabolism_Homo sapiens_hsa005000.53847485
99Non-homologous end-joining_Homo sapiens_hsa034500.52382279
100Collecting duct acid secretion_Homo sapiens_hsa049660.51225750
101Complement and coagulation cascades_Homo sapiens_hsa046100.50587889
102Spliceosome_Homo sapiens_hsa030400.50131148
103RNA polymerase_Homo sapiens_hsa030200.49359367
104Pancreatic cancer_Homo sapiens_hsa052120.48663687
105Maturity onset diabetes of the young_Homo sapiens_hsa049500.48341865
106Homologous recombination_Homo sapiens_hsa034400.47859127
107Measles_Homo sapiens_hsa051620.47398724
108Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.47053033
109Jak-STAT signaling pathway_Homo sapiens_hsa046300.46626827
110MicroRNAs in cancer_Homo sapiens_hsa052060.46559953
1112-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.44431703
112Biosynthesis of amino acids_Homo sapiens_hsa012300.44242870
113Proteoglycans in cancer_Homo sapiens_hsa052050.43451011
114Chronic myeloid leukemia_Homo sapiens_hsa052200.42965914
115Prostate cancer_Homo sapiens_hsa052150.42859167
116Ether lipid metabolism_Homo sapiens_hsa005650.42159025
117AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.42041661
118Endocytosis_Homo sapiens_hsa041440.41632096
119Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.41165116
120Tuberculosis_Homo sapiens_hsa051520.41013863
121Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.40324995
122HIF-1 signaling pathway_Homo sapiens_hsa040660.40167816
123Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.40119708
124Pyrimidine metabolism_Homo sapiens_hsa002400.39468036
125Influenza A_Homo sapiens_hsa051640.39333681
126Toll-like receptor signaling pathway_Homo sapiens_hsa046200.38699945
127Viral carcinogenesis_Homo sapiens_hsa052030.38699675
128Staphylococcus aureus infection_Homo sapiens_hsa051500.38460037
129Glutathione metabolism_Homo sapiens_hsa004800.37897914
130Sulfur relay system_Homo sapiens_hsa041220.36869036
131Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.36470474
132African trypanosomiasis_Homo sapiens_hsa051430.36446701
133B cell receptor signaling pathway_Homo sapiens_hsa046620.35724905
134Glycerolipid metabolism_Homo sapiens_hsa005610.35660072
135mRNA surveillance pathway_Homo sapiens_hsa030150.35511635
136Non-small cell lung cancer_Homo sapiens_hsa052230.35450424
137Phospholipase D signaling pathway_Homo sapiens_hsa040720.35207167
138Prolactin signaling pathway_Homo sapiens_hsa049170.34910273
139Toxoplasmosis_Homo sapiens_hsa051450.34862178
140PI3K-Akt signaling pathway_Homo sapiens_hsa041510.34410930
141Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.34363886
142Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.33949492
143Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.33453712
144HTLV-I infection_Homo sapiens_hsa051660.32844069
145FoxO signaling pathway_Homo sapiens_hsa040680.32464455
146Malaria_Homo sapiens_hsa051440.31295972
147Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.31220181
148Dorso-ventral axis formation_Homo sapiens_hsa043200.30810566
149Steroid biosynthesis_Homo sapiens_hsa001000.29913599
150Colorectal cancer_Homo sapiens_hsa052100.29403586

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