SKIL

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





Description: The protein encoded by this gene is a component of the SMAD pathway, which regulates cell growth and differentiation through transforming growth factor-beta (TGFB). In the absence of ligand, the encoded protein binds to the promoter region of TGFB-responsive genes and recruits a nuclear repressor complex. TGFB signaling causes SMAD3 to enter the nucleus and degrade this protein, allowing these genes to be activated. Four transcript variants encoding three different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1DNA double-strand break processing (GO:0000729)5.41957777
2negative regulation of DNA-dependent DNA replication (GO:2000104)5.16597669
3response to muramyl dipeptide (GO:0032495)4.70755409
4regulation of mitotic spindle checkpoint (GO:1903504)4.68453315
5regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)4.68453315
6antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.63870981
7chromatin remodeling at centromere (GO:0031055)4.50815110
8modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.46509991
9positive regulation by organism of defense response of other organism involved in symbiotic interact4.46509991
10modulation by symbiont of host immune response (GO:0052553)4.46509991
11positive regulation by symbiont of host defense response (GO:0052509)4.46509991
12modulation by symbiont of host defense response (GO:0052031)4.46509991
13modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.46509991
14regulation of helicase activity (GO:0051095)4.41365339
15histone exchange (GO:0043486)4.31762616
16CENP-A containing nucleosome assembly (GO:0034080)4.23683965
17telomere maintenance via telomerase (GO:0007004)4.14739353
18somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)4.11413669
19somatic diversification of immunoglobulins involved in immune response (GO:0002208)4.11413669
20isotype switching (GO:0045190)4.11413669
21DNA replication checkpoint (GO:0000076)4.10470115
22regulation of nuclear cell cycle DNA replication (GO:0033262)4.10234450
23proteasome assembly (GO:0043248)4.02481989
24regulation of interleukin-12 biosynthetic process (GO:0045075)3.86245988
25response to peptidoglycan (GO:0032494)3.85996105
26somatic diversification of immune receptors via somatic mutation (GO:0002566)3.82816023
27somatic hypermutation of immunoglobulin genes (GO:0016446)3.82816023
28neutrophil activation involved in immune response (GO:0002283)3.79396337
29lactate metabolic process (GO:0006089)3.77113087
30regulation of telomere maintenance via telomerase (GO:0032210)3.72967745
31positive regulation of cellular amide metabolic process (GO:0034250)3.67873374
32response to X-ray (GO:0010165)3.67595943
33positive regulation of interferon-alpha production (GO:0032727)3.66689019
34anterior/posterior axis specification, embryo (GO:0008595)3.65065891
35NIK/NF-kappaB signaling (GO:0038061)3.63882648
36RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.59970865
37replication fork processing (GO:0031297)3.59900926
38positive regulation of interleukin-12 production (GO:0032735)3.56116959
39negative regulation of DNA recombination (GO:0045910)3.55374930
40regulation of interferon-alpha production (GO:0032647)3.55247392
41DNA catabolic process, exonucleolytic (GO:0000738)3.54361476
42female gonad development (GO:0008585)3.54358203
43spindle checkpoint (GO:0031577)3.53748198
44water-soluble vitamin biosynthetic process (GO:0042364)3.50412385
45microglial cell activation (GO:0001774)3.48577478
46mitotic spindle checkpoint (GO:0071174)3.46805760
47germinal center formation (GO:0002467)3.44112288
48regulation of meiosis I (GO:0060631)3.42810193
49synapsis (GO:0007129)3.42388826
50negative regulation of mitotic metaphase/anaphase transition (GO:0045841)3.41928697
51negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)3.41928697
52negative regulation of mitotic sister chromatid segregation (GO:0033048)3.41928697
53negative regulation of mitotic sister chromatid separation (GO:2000816)3.41928697
54negative regulation of sister chromatid segregation (GO:0033046)3.41928697
55mitotic metaphase plate congression (GO:0007080)3.39690799
56RNA-dependent DNA replication (GO:0006278)3.38363647
57cullin deneddylation (GO:0010388)3.38313784
58IMP biosynthetic process (GO:0006188)3.37710487
59somatic recombination of immunoglobulin gene segments (GO:0016447)3.33359954
60macrophage activation involved in immune response (GO:0002281)3.32283251
61DNA damage response, detection of DNA damage (GO:0042769)3.31046756
62metaphase plate congression (GO:0051310)3.30731728
63negative regulation of chromosome segregation (GO:0051985)3.30689104
64regulation of dendritic cell antigen processing and presentation (GO:0002604)3.29853579
65ribosome assembly (GO:0042255)3.29209068
66DNA replication-independent nucleosome assembly (GO:0006336)3.28206892
67DNA replication-independent nucleosome organization (GO:0034724)3.28206892
68positive regulation of protein autophosphorylation (GO:0031954)3.27393248
69positive regulation of gamma-delta T cell activation (GO:0046645)3.26130062
70modulation by symbiont of host cellular process (GO:0044068)3.23891001
71regulation of metaphase/anaphase transition of cell cycle (GO:1902099)3.21240409
72regulation of mitotic metaphase/anaphase transition (GO:0030071)3.21240409
73DNA replication-dependent nucleosome assembly (GO:0006335)3.21000285
74DNA replication-dependent nucleosome organization (GO:0034723)3.21000285
75response to host immune response (GO:0052572)3.20268920
76response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.20268920
77intra-S DNA damage checkpoint (GO:0031573)3.17563143
78positive regulation of interleukin-2 biosynthetic process (GO:0045086)3.17300809
79protein neddylation (GO:0045116)3.16122400
80neutrophil activation (GO:0042119)3.15509025
81positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.14857571
82non-recombinational repair (GO:0000726)3.14101790
83double-strand break repair via nonhomologous end joining (GO:0006303)3.14101790
84positive regulation of heat generation (GO:0031652)3.13368004
85myeloid dendritic cell activation (GO:0001773)3.12840429
86protein deneddylation (GO:0000338)3.12670665
87establishment of integrated proviral latency (GO:0075713)3.12652366
88mitotic sister chromatid cohesion (GO:0007064)3.10485658
89negative regulation of telomerase activity (GO:0051974)3.09481653
90regulation of centriole replication (GO:0046599)3.08490506
91somatic diversification of immunoglobulins (GO:0016445)3.07971595
92granulocyte activation (GO:0036230)3.07794651
93regulation of sister chromatid segregation (GO:0033045)3.06368054
94regulation of mitotic sister chromatid separation (GO:0010965)3.06368054
95regulation of mitotic sister chromatid segregation (GO:0033047)3.06368054
96exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.04914862
97purine nucleobase biosynthetic process (GO:0009113)3.04911277
98kidney morphogenesis (GO:0060993)3.04832742
99regulation of fever generation (GO:0031620)3.04048535
100attachment of spindle microtubules to kinetochore (GO:0008608)3.02074632
101negative regulation of telomere maintenance (GO:0032205)3.01767195
102L-serine metabolic process (GO:0006563)3.01133239
103regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.00216337
104cytokine secretion (GO:0050663)3.00104971
105maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.98568387
106response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.98181087
107response to host (GO:0075136)2.98181087
108response to host defenses (GO:0052200)2.98181087
109myeloid dendritic cell differentiation (GO:0043011)2.97685532
110single strand break repair (GO:0000012)2.96960796
111interferon-gamma-mediated signaling pathway (GO:0060333)2.96941485
112positive regulation of type 2 immune response (GO:0002830)2.94700521
113hydrogen peroxide biosynthetic process (GO:0050665)2.94633306
114lysine metabolic process (GO:0006553)2.93988175
115lysine catabolic process (GO:0006554)2.93988175
116superoxide anion generation (GO:0042554)2.93955662
117mitotic spindle assembly checkpoint (GO:0007094)2.93939426
118negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.93611514
119protein localization to kinetochore (GO:0034501)2.93145666
120IMP metabolic process (GO:0046040)2.92189330
121nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)2.91356613
122regulation of DNA endoreduplication (GO:0032875)2.90737393
123nodal signaling pathway (GO:0038092)2.90127989
124lipopolysaccharide-mediated signaling pathway (GO:0031663)2.89383522
125regulation of mesoderm development (GO:2000380)2.88929522
126positive regulation of interferon-beta production (GO:0032728)2.88029091
127spindle assembly checkpoint (GO:0071173)2.87910181
128regulation of telomere maintenance (GO:0032204)2.86231586
129regulation of interleukin-12 production (GO:0032655)2.85512536
130positive regulation of antigen processing and presentation (GO:0002579)2.83656190
131respiratory chain complex IV assembly (GO:0008535)2.82649685
132histone H2A acetylation (GO:0043968)2.82336036
133positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)2.81951472
134mitotic G2/M transition checkpoint (GO:0044818)2.81946261
135immunoglobulin mediated immune response (GO:0016064)2.81344435
136natural killer cell mediated cytotoxicity (GO:0042267)2.81160091
137natural killer cell mediated immunity (GO:0002228)2.81160091
138positive regulation of glycoprotein biosynthetic process (GO:0010560)2.79616264
139regulation of chromosome segregation (GO:0051983)2.79213835
140monocyte chemotaxis (GO:0002548)2.75499063
141macrophage activation (GO:0042116)2.74660047
142regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)2.74230709
143cell fate commitment involved in formation of primary germ layer (GO:0060795)2.74118646
144B cell homeostasis (GO:0001782)2.74003080
145regulation of interferon-beta biosynthetic process (GO:0045357)2.72748790
146histone mRNA metabolic process (GO:0008334)2.72517499
147negative regulation of mitosis (GO:0045839)2.72415823
148production of molecular mediator involved in inflammatory response (GO:0002532)2.71877318
149I-kappaB phosphorylation (GO:0007252)2.70555291
150CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)2.69964662
151T-helper cell differentiation (GO:0042093)2.69964662
152regulation of activation of Janus kinase activity (GO:0010533)2.68251997
153wound healing, spreading of epidermal cells (GO:0035313)2.65727674
154cell adhesion mediated by integrin (GO:0033627)2.65064854
155regulation of T-helper 1 cell differentiation (GO:0045625)2.64510345
156nucleobase biosynthetic process (GO:0046112)2.64320235
157establishment of protein localization to mitochondrial membrane (GO:0090151)2.64276701
158regulation of T cell chemotaxis (GO:0010819)2.63779611
159positive regulation of T cell chemotaxis (GO:0010820)2.63779611
160type I interferon signaling pathway (GO:0060337)2.63017179
161cellular response to type I interferon (GO:0071357)2.63017179
162response to type I interferon (GO:0034340)2.62728654
163regulation of T cell tolerance induction (GO:0002664)2.62507386
164cellular response to interferon-beta (GO:0035458)2.62267045
165negative regulation of nuclear division (GO:0051784)2.61562122
166regulation of germinal center formation (GO:0002634)2.60523710
167regulation of chronic inflammatory response (GO:0002676)2.57237116
168positive regulation of interleukin-2 production (GO:0032743)2.56589579
169regulation of alpha-beta T cell proliferation (GO:0046640)2.55129045
170regulation of integrin activation (GO:0033623)2.54933824
171negative regulation of lipid storage (GO:0010888)2.53804753
172regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.53100609
173positive regulation of interleukin-1 beta secretion (GO:0050718)2.52982778
174positive regulation of alpha-beta T cell proliferation (GO:0046641)2.49973696
175positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)2.49372174
176Notch signaling involved in heart development (GO:0061314)2.48725412
177regulation of RIG-I signaling pathway (GO:0039535)2.48100858
178dendritic cell chemotaxis (GO:0002407)2.47421030
179myeloid leukocyte activation (GO:0002274)2.47079714
180regulation of B cell receptor signaling pathway (GO:0050855)2.46378788
181regulation of antigen processing and presentation (GO:0002577)2.45822750
182myeloid cell activation involved in immune response (GO:0002275)2.45203025
183detection of molecule of bacterial origin (GO:0032490)2.43471755
184T cell activation involved in immune response (GO:0002286)2.43290054
185modulation by virus of host process (GO:0019054)2.42896859
186regulation of gamma-delta T cell activation (GO:0046643)2.42709718
187substrate-dependent cell migration (GO:0006929)2.42615218
188regulation of interleukin-1 beta secretion (GO:0050706)2.42520478
189embryonic process involved in female pregnancy (GO:0060136)2.41359906
190reactive oxygen species biosynthetic process (GO:1903409)2.41149394
191positive regulation of response to biotic stimulus (GO:0002833)2.40848482
192regulation of interleukin-2 biosynthetic process (GO:0045076)2.40756375
193negative regulation of translation, ncRNA-mediated (GO:0040033)2.40298951
194regulation of translation, ncRNA-mediated (GO:0045974)2.40298951
195negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.40298951
196T-helper 1 type immune response (GO:0042088)2.38767347
197Rap protein signal transduction (GO:0032486)2.38677740

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1FOXP3_17237761_ChIP-ChIP_TREG_Mouse5.54534555
2EGR1_19374776_ChIP-ChIP_THP-1_Human5.23978020
3IRF8_22096565_ChIP-ChIP_GC-B_Human4.90370077
4BP1_19119308_ChIP-ChIP_Hs578T_Human4.79010610
5IRF8_21731497_ChIP-ChIP_J774_Mouse4.66417910
6STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.91976340
7* STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.53502058
8KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human3.38133618
9* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.28132183
10* IRF8_27001747_Chip-Seq_BMDM_Mouse3.16045680
11Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse3.11021999
12IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.06143455
13GLI1_17442700_ChIP-ChIP_MESCs_Mouse3.03527421
14* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.97840622
15SMAD_19615063_ChIP-ChIP_OVARY_Human2.96980916
16* IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.87024283
17E2F4_17652178_ChIP-ChIP_JURKAT_Human2.80331753
18* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.75831214
19TP63_17297297_ChIP-ChIP_HaCaT_Human2.74558220
20VDR_22108803_ChIP-Seq_LS180_Human2.65874282
21ZNF274_21170338_ChIP-Seq_K562_Hela2.62273622
22* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.60678035
23GABP_17652178_ChIP-ChIP_JURKAT_Human2.50340662
24EST1_17652178_ChIP-ChIP_JURKAT_Human2.34318484
25MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.32970891
26FUS_26573619_Chip-Seq_HEK293_Human2.18682285
27RUNX_20019798_ChIP-Seq_JUKART_Human2.10262604
28* POU5F1_16153702_ChIP-ChIP_HESCs_Human2.10056099
29MYB_21317192_ChIP-Seq_ERMYB_Mouse2.09729269
30ZFP57_27257070_Chip-Seq_ESCs_Mouse2.08093633
31MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.05451005
32STAT4_19710469_ChIP-ChIP_TH1__Mouse2.02181234
33* SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.93763878
34* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.92666694
35TAF15_26573619_Chip-Seq_HEK293_Human1.91293076
36CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.88344349
37HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.86547178
38VDR_24787735_ChIP-Seq_THP-1_Human1.84752409
39GBX2_23144817_ChIP-Seq_PC3_Human1.83317696
40E2F7_22180533_ChIP-Seq_HELA_Human1.82131505
41STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.81057599
42* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.76149683
43E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.73724441
44* SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.72479736
45SALL1_21062744_ChIP-ChIP_HESCs_Human1.71838035
46CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.65642386
47GATA2_21666600_ChIP-Seq_HMVEC_Human1.65544293
48* NANOG_16153702_ChIP-ChIP_HESCs_Human1.61699443
49GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.60101471
50PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.58215526
51VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.57813281
52SCL_19346495_ChIP-Seq_HPC-7_Human1.57726882
53IGF1R_20145208_ChIP-Seq_DFB_Human1.57015028
54FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.56435054
55PADI4_21655091_ChIP-ChIP_MCF-7_Human1.56353068
56EZH2_27294783_Chip-Seq_NPCs_Mouse1.54414440
57HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.54062083
58PU_27001747_Chip-Seq_BMDM_Mouse1.53568726
59MYB_26560356_Chip-Seq_TH2_Human1.51876936
60FOXM1_23109430_ChIP-Seq_U2OS_Human1.48480838
61SUZ12_27294783_Chip-Seq_NPCs_Mouse1.46867756
62PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.45294523
63AR_21909140_ChIP-Seq_LNCAP_Human1.43289845
64* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.41133760
65* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.41133760
66PCGF2_27294783_Chip-Seq_NPCs_Mouse1.40719498
67CREB1_15753290_ChIP-ChIP_HEK293T_Human1.39335792
68TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.39273893
69BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.39111873
70CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.38420035
71NFE2_27457419_Chip-Seq_LIVER_Mouse1.38381164
72PIAS1_25552417_ChIP-Seq_VCAP_Human1.38017951
73SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.37623576
74MYB_26560356_Chip-Seq_TH1_Human1.37097391
75MYC_18940864_ChIP-ChIP_HL60_Human1.36674483
76PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.35822428
77VDR_23849224_ChIP-Seq_CD4+_Human1.35611312
78CTBP2_25329375_ChIP-Seq_LNCAP_Human1.35603065
79WT1_19549856_ChIP-ChIP_CCG9911_Human1.34509371
80ESR1_21235772_ChIP-Seq_MCF-7_Human1.33432851
81FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.32754853
82BRD4_27068464_Chip-Seq_AML-cells_Mouse1.31680648
83SMAD3_21741376_ChIP-Seq_EPCs_Human1.30742591
84ZNF217_24962896_ChIP-Seq_MCF-7_Human1.30476631
85NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.30247315
86* FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.29191466
87ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.28700303
88OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.28526218
89* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.28288891
90UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.26195499
91* SOX2_16153702_ChIP-ChIP_HESCs_Human1.25476685
92SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.23803997
93KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.22406457
94KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.22406457
95KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.22406457
96BCAT_22108803_ChIP-Seq_LS180_Human1.21652383
97SPI1_23547873_ChIP-Seq_NB4_Human1.20779712
98NOTCH1_21737748_ChIP-Seq_TLL_Human1.20414268
99RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.19366102
100CJUN_26792858_Chip-Seq_BT549_Human1.19283137
101CTBP1_25329375_ChIP-Seq_LNCAP_Human1.18469571
102ER_23166858_ChIP-Seq_MCF-7_Human1.17268874
103CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.17253479
104GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.16505839
105SMAD4_21799915_ChIP-Seq_A2780_Human1.16439532
106IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.14594732
107CBP_20019798_ChIP-Seq_JUKART_Human1.14594732
108NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.14006367
109FOXP3_21729870_ChIP-Seq_TREG_Human1.13452175
110EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.11635502
111* SOX2_19829295_ChIP-Seq_ESCs_Human1.10908453
112* NANOG_19829295_ChIP-Seq_ESCs_Human1.10908453
113CRX_20693478_ChIP-Seq_RETINA_Mouse1.10618451
114NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.10520178
115BRD4_25478319_ChIP-Seq_HGPS_Human1.10330029
116KLF5_20875108_ChIP-Seq_MESCs_Mouse1.10306727
117* TCF4_22108803_ChIP-Seq_LS180_Human1.09451133
118NANOG_18555785_Chip-Seq_ESCs_Mouse1.08753631
119* CDX2_22108803_ChIP-Seq_LS180_Human1.08477995
120MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.08297546
121TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.07664229
122ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.07650429
123TOP2B_26459242_ChIP-Seq_MCF-7_Human1.07596378
124FOXM1_26456572_ChIP-Seq_MCF-7_Human1.06959522
125STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.06615753
126FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.06006678
127VDR_24763502_ChIP-Seq_THP-1_Human1.04565470
128SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.04244958
129TP53_16413492_ChIP-PET_HCT116_Human1.03804846
130FLI1_27457419_Chip-Seq_LIVER_Mouse1.02983075
131EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.02620763
132TBX3_20139965_ChIP-Seq_ESCs_Mouse1.02604686
133TBX3_20139965_ChIP-Seq_MESCs_Mouse1.01853152
134SPI1_23127762_ChIP-Seq_K562_Human1.01833420
135RUNX1_22412390_ChIP-Seq_EML_Mouse1.00614310
136TP63_19390658_ChIP-ChIP_HaCaT_Human1.00436875
137TRIM28_21343339_ChIP-Seq_HEK293_Human1.00345078
138SMAD4_21741376_ChIP-Seq_EPCs_Human1.00102004
139HIF1A_21447827_ChIP-Seq_MCF-7_Human0.99828877
140* P300_18555785_Chip-Seq_ESCs_Mouse0.99724836
141AR_25329375_ChIP-Seq_VCAP_Human0.99587341
142SUZ12_18555785_Chip-Seq_ESCs_Mouse0.99306521
143E2F1_21310950_ChIP-Seq_MCF-7_Human0.98944100
144P53_22387025_ChIP-Seq_ESCs_Mouse0.98859575
145* ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.98586316
146STAT3_23295773_ChIP-Seq_U87_Human0.95938346
147SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.95700469
148POU3F2_20337985_ChIP-ChIP_501MEL_Human0.95371424
149MAF_26560356_Chip-Seq_TH1_Human0.93288779
150RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.91843238
151ELK1_19687146_ChIP-ChIP_HELA_Human0.91653668
152FOXO3_23340844_ChIP-Seq_DLD1_Human0.91600976
153GATA3_27048872_Chip-Seq_THYMUS_Human0.90951305
154ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.89035610
155AHR_22903824_ChIP-Seq_MCF-7_Human0.87682796
156JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.87636757
157PPAR_26484153_Chip-Seq_NCI-H1993_Human0.87324093
158GATA3_26560356_Chip-Seq_TH2_Human0.85735848
159NRF2_20460467_ChIP-Seq_MEFs_Mouse0.84371553
160NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.84371553
161TP53_18474530_ChIP-ChIP_U2OS_Human0.82355011
162RXR_22108803_ChIP-Seq_LS180_Human0.82209621
163CDX2_19796622_ChIP-Seq_MESCs_Mouse0.82141643
164AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.81954045
165TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.81727490
166TCF7_22412390_ChIP-Seq_EML_Mouse0.81202680
167JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.80541227
168SMRT_27268052_Chip-Seq_Bcells_Human0.79166042
169ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.78712850
170SALL4_18804426_ChIP-ChIP_XEN_Mouse0.78646580
171* CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.78612247
172TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.78434578
173PCGF2_27294783_Chip-Seq_ESCs_Mouse0.77467188
174FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.76888436
175CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.75077609
176FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.73081260
177EWS_26573619_Chip-Seq_HEK293_Human0.72216506
178TCF4_18268006_ChIP-ChIP_LS174T_Human0.72117808
179* P300_19829295_ChIP-Seq_ESCs_Human0.72097345
180CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.71094656
181* SOX2_20726797_ChIP-Seq_SW620_Human0.70903290
182CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.69641243
183* E2F1_18555785_Chip-Seq_ESCs_Mouse0.69543601

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003941_abnormal_skin_development4.48636758
2MP0008877_abnormal_DNA_methylation4.02642891
3MP0001835_abnormal_antigen_presentation4.01051359
4MP0000569_abnormal_digit_pigmentation3.92185119
5MP0003890_abnormal_embryonic-extraembry3.56060095
6MP0008058_abnormal_DNA_repair3.44058527
7MP0002102_abnormal_ear_morphology3.22475749
8MP0002148_abnormal_hypersensitivity_rea3.18660250
9MP0010094_abnormal_chromosome_stability3.01248167
10MP0009785_altered_susceptibility_to2.91216002
11MP0003436_decreased_susceptibility_to2.88327002
12MP0005000_abnormal_immune_tolerance2.86755298
13MP0004510_myositis2.77383179
14MP0003693_abnormal_embryo_hatching2.68816276
15MP0003195_calcinosis2.60146498
16MP0002419_abnormal_innate_immunity2.59056310
17MP0003724_increased_susceptibility_to2.56062808
18MP0005387_immune_system_phenotype2.54898178
19MP0001790_abnormal_immune_system2.54898178
20MP0004957_abnormal_blastocyst_morpholog2.52854610
21MP0001188_hyperpigmentation2.50345817
22MP0002452_abnormal_antigen_presenting2.46906499
23MP0001800_abnormal_humoral_immune2.42423623
24MP0005671_abnormal_response_to2.40642851
25MP0002006_tumorigenesis2.34240181
26MP0000685_abnormal_immune_system2.33590655
27MP0002723_abnormal_immune_serum2.25857461
28MP0006082_CNS_inflammation2.20893664
29MP0005025_abnormal_response_to2.16978090
30MP0003111_abnormal_nucleus_morphology2.16098612
31MP0003303_peritoneal_inflammation2.05856620
32MP0003718_maternal_effect2.04375381
33* MP0001819_abnormal_immune_cell2.03768883
34* MP0002420_abnormal_adaptive_immunity2.00903404
35MP0002166_altered_tumor_susceptibility2.00227840
36MP0008932_abnormal_embryonic_tissue1.97986042
37MP0009278_abnormal_bone_marrow1.93223228
38MP0005076_abnormal_cell_differentiation1.91675765
39MP0003567_abnormal_fetal_cardiomyocyte1.85373307
40MP0003119_abnormal_digestive_system1.84984952
41MP0006072_abnormal_retinal_apoptosis1.83648141
42MP0004947_skin_inflammation1.81701459
43MP0003786_premature_aging1.77267493
44MP0002837_dystrophic_cardiac_calcinosis1.73656335
45* MP0003448_altered_tumor_morphology1.71573681
46MP0001853_heart_inflammation1.71472510
47MP0003077_abnormal_cell_cycle1.69713680
48MP0002009_preneoplasia1.69584816
49MP0002877_abnormal_melanocyte_morpholog1.69105563
50MP0003937_abnormal_limbs/digits/tail_de1.68924641
51MP0004133_heterotaxia1.68677984
52MP0002405_respiratory_system_inflammati1.68607818
53MP0002751_abnormal_autonomic_nervous1.65907038
54MP0010155_abnormal_intestine_physiology1.64653464
55MP0003121_genomic_imprinting1.64522175
56MP0005464_abnormal_platelet_physiology1.63748953
57MP0002138_abnormal_hepatobiliary_system1.59842204
58MP0001177_atelectasis1.57782913
59MP0001533_abnormal_skeleton_physiology1.57054979
60MP0005310_abnormal_salivary_gland1.55552376
61MP0003300_gastrointestinal_ulcer1.54354577
62MP0001293_anophthalmia1.54119209
63MP0001545_abnormal_hematopoietic_system1.52060249
64MP0005397_hematopoietic_system_phenotyp1.52060249
65MP0004808_abnormal_hematopoietic_stem1.51721357
66* MP0002398_abnormal_bone_marrow1.49737655
67MP0002277_abnormal_respiratory_mucosa1.49661680
68MP0002938_white_spotting1.48446816
69MP0000858_altered_metastatic_potential1.47378378
70* MP0000716_abnormal_immune_system1.46395439
71MP0010352_gastrointestinal_tract_polyps1.45467640
72MP0001485_abnormal_pinna_reflex1.43655442
73MP0001845_abnormal_inflammatory_respons1.41491016
74MP0006292_abnormal_olfactory_placode1.40924203
75MP0000015_abnormal_ear_pigmentation1.40356527
76MP0010307_abnormal_tumor_latency1.39789680
77MP0002998_abnormal_bone_remodeling1.38872908
78MP0009672_abnormal_birth_weight1.38780840
79MP0001984_abnormal_olfaction1.37664853
80* MP0008007_abnormal_cellular_replicative1.36987522
81MP0002254_reproductive_system_inflammat1.36936227
82MP0009697_abnormal_copulation1.34776342
83MP0003763_abnormal_thymus_physiology1.34155121
84MP0003091_abnormal_cell_migration1.33147327
85MP0002736_abnormal_nociception_after1.27319849
86MP0004215_abnormal_myocardial_fiber1.25668580
87MP0003011_delayed_dark_adaptation1.25433093
88MP0001879_abnormal_lymphatic_vessel1.24484469
89MP0002090_abnormal_vision1.22285053
90MP0003566_abnormal_cell_adhesion1.21988844
91MP0003828_pulmonary_edema1.19941808
92MP0005253_abnormal_eye_physiology1.19647341
93* MP0000689_abnormal_spleen_morphology1.19218912
94MP0003646_muscle_fatigue1.18444944
95MP0003123_paternal_imprinting1.17912463
96MP0005174_abnormal_tail_pigmentation1.16949513
97MP0000767_abnormal_smooth_muscle1.15859120
98MP0005367_renal/urinary_system_phenotyp1.15778487
99MP0000516_abnormal_urinary_system1.15778487
100MP0005390_skeleton_phenotype1.15636183
101MP0005167_abnormal_blood-brain_barrier1.12420896
102MP0009703_decreased_birth_body1.12174794
103MP0000647_abnormal_sebaceous_gland1.11735852
104MP0000371_diluted_coat_color1.11250393
105MP0004782_abnormal_surfactant_physiolog1.10468208
106MP0001286_abnormal_eye_development1.10113017
107* MP0002429_abnormal_blood_cell1.09972251
108MP0002084_abnormal_developmental_patter1.09762096
109MP0005395_other_phenotype1.07913493
110* MP0002722_abnormal_immune_system1.07437417
111MP0003172_abnormal_lysosome_physiology1.06346795
112MP0002928_abnormal_bile_duct1.05559683
113MP0003283_abnormal_digestive_organ1.05553612
114MP0009764_decreased_sensitivity_to1.03361899
115MP0003183_abnormal_peptide_metabolism1.02924362
116MP0001529_abnormal_vocalization1.02870671
117MP0008057_abnormal_DNA_replication1.02866524
118MP0000343_altered_response_to1.01522819
119MP0003137_abnormal_impulse_conducting1.01079535
120MP0003453_abnormal_keratinocyte_physiol1.00297591
121MP0006035_abnormal_mitochondrial_morpho0.99900146
122MP0003279_aneurysm0.99383576
123MP0002233_abnormal_nose_morphology0.98532663
124MP0003075_altered_response_to0.97716924
125MP0002085_abnormal_embryonic_tissue0.97222910
126MP0008469_abnormal_protein_level0.96792954
127MP0001915_intracranial_hemorrhage0.96060014
128MP0005171_absent_coat_pigmentation0.95966694
129MP0000372_irregular_coat_pigmentation0.95088096
130MP0005551_abnormal_eye_electrophysiolog0.94464273
131MP0010234_abnormal_vibrissa_follicle0.92620458
132MP0000427_abnormal_hair_cycle0.92472235
133MP0009333_abnormal_splenocyte_physiolog0.91331646
134MP0003122_maternal_imprinting0.90554072
135MP0001697_abnormal_embryo_size0.90142362
136MP0000703_abnormal_thymus_morphology0.90099848
137MP0002933_joint_inflammation0.89850052
138MP0005084_abnormal_gallbladder_morpholo0.88315949
139MP0003755_abnormal_palate_morphology0.87681525
140MP0001851_eye_inflammation0.87018419
141MP0001929_abnormal_gametogenesis0.86859907
142MP0000627_abnormal_mammary_gland0.86499935
143MP0008438_abnormal_cutaneous_collagen0.85243353
144MP0005380_embryogenesis_phenotype0.85123234
145MP0001672_abnormal_embryogenesis/_devel0.85123234
146MP0008872_abnormal_physiological_respon0.85115591
147MP0005023_abnormal_wound_healing0.84984363
148MP0000249_abnormal_blood_vessel0.83702004
149MP0001191_abnormal_skin_condition0.83538403
150MP0001119_abnormal_female_reproductive0.82938787
151MP0003787_abnormal_imprinting0.82719495
152MP0004883_abnormal_blood_vessel0.81042137
153MP0000579_abnormal_nail_morphology0.81014597
154MP0000653_abnormal_sex_gland0.80735236
155MP0010368_abnormal_lymphatic_system0.79788711
156* MP0001730_embryonic_growth_arrest0.79746597
157MP0002160_abnormal_reproductive_system0.78384555
158MP0002111_abnormal_tail_morphology0.78092129
159MP0008789_abnormal_olfactory_epithelium0.77160157
160MP0010678_abnormal_skin_adnexa0.76576084
161MP0008775_abnormal_heart_ventricle0.75957798
162MP0005166_decreased_susceptibility_to0.75694007
163MP0003045_fibrosis0.75617003
164MP0005164_abnormal_response_to0.75402924
165MP0004197_abnormal_fetal_growth/weight/0.73995024
166MP0001145_abnormal_male_reproductive0.73670287
167MP0001324_abnormal_eye_pigmentation0.72233533
168MP0003795_abnormal_bone_structure0.72208863
169MP0000490_abnormal_crypts_of0.71221589
170MP0005058_abnormal_lysosome_morphology0.70937446
171MP0002210_abnormal_sex_determination0.70534938
172MP0005220_abnormal_exocrine_pancreas0.69223352
173MP0002396_abnormal_hematopoietic_system0.68989018
174MP0001299_abnormal_eye_distance/0.67098149
175MP0005197_abnormal_uvea_morphology0.65767590
176MP0004085_abnormal_heartbeat0.65720497
177MP0000613_abnormal_salivary_gland0.65337537
178MP0002282_abnormal_trachea_morphology0.65284933
179MP0002088_abnormal_embryonic_growth/wei0.65164289
180MP0006054_spinal_hemorrhage0.64091591
181MP0001666_abnormal_nutrient_absorption0.63847984
182MP0005408_hypopigmentation0.63539162
183MP0005391_vision/eye_phenotype0.63138445
184MP0005075_abnormal_melanosome_morpholog0.62392441
185* MP0000350_abnormal_cell_proliferation0.62253890
186MP0008995_early_reproductive_senescence0.60973670
187MP0000358_abnormal_cell_content/0.60884396
188MP0003186_abnormal_redox_activity0.60385225
189MP0005389_reproductive_system_phenotype0.60351596
190MP0003984_embryonic_growth_retardation0.59968867
191MP0001486_abnormal_startle_reflex0.58300183

Predicted human phenotypes

RankGene SetZ-score
1Optic neuritis (HP:0100653)5.10514893
2Retrobulbar optic neuritis (HP:0100654)5.10514893
3Recurrent abscess formation (HP:0002722)4.88314663
4Eczematoid dermatitis (HP:0000976)4.73599724
5Abnormality of the labia minora (HP:0012880)4.69047089
6Orchitis (HP:0100796)4.46666698
7Recurrent bacterial skin infections (HP:0005406)4.43236618
8Myositis (HP:0100614)4.09266716
9Stomatitis (HP:0010280)4.06982410
10Colon cancer (HP:0003003)4.03545684
11Elevated erythrocyte sedimentation rate (HP:0003565)3.93199829
12Ependymoma (HP:0002888)3.85685860
13Mediastinal lymphadenopathy (HP:0100721)3.83631317
14Prostate neoplasm (HP:0100787)3.68950907
15Hematochezia (HP:0002573)3.36247901
16Abnormality of chromosome stability (HP:0003220)3.27255320
17Absent frontal sinuses (HP:0002688)3.26573096
18Autoimmune thrombocytopenia (HP:0001973)3.24673627
19Keratoconjunctivitis sicca (HP:0001097)3.21908008
20Methylmalonic acidemia (HP:0002912)3.19887818
21Rhabdomyosarcoma (HP:0002859)3.15666263
22Abnormality of the nasal septum (HP:0000419)3.10406295
23Gingivitis (HP:0000230)3.09198820
24Pulmonary infiltrates (HP:0002113)3.05141682
25Spinal cord lesions (HP:0100561)3.04949535
26Syringomyelia (HP:0003396)3.04949535
27Recurrent gram-negative bacterial infections (HP:0005420)3.04178767
28Periodontitis (HP:0000704)2.99016997
29Vasculitis (HP:0002633)2.98363459
30Aplasia/Hypoplasia of the uvula (HP:0010293)2.97566831
31Thick nail (HP:0001805)2.97087054
32Keratoconjunctivitis (HP:0001096)2.95711363
33Arterial thrombosis (HP:0004420)2.92639705
34Glioma (HP:0009733)2.87621287
35Recurrent fungal infections (HP:0002841)2.87521690
36Alveolar cell carcinoma (HP:0006519)2.84735853
37Neoplasm of the adrenal gland (HP:0100631)2.83870166
38Meckel diverticulum (HP:0002245)2.82160296
39Systemic lupus erythematosus (HP:0002725)2.81737137
40Abnormal lung lobation (HP:0002101)2.74769459
41Increased IgM level (HP:0003496)2.71894315
42Abnormality of aspartate family amino acid metabolism (HP:0010899)2.70733826
43Abnormality of the ileum (HP:0001549)2.70205896
44Abnormality of macrophages (HP:0004311)2.70197637
45Astrocytoma (HP:0009592)2.69095827
46Abnormality of the astrocytes (HP:0100707)2.69095827
47Leukocytosis (HP:0001974)2.66549152
48Hypoglycemic seizures (HP:0002173)2.62856032
49Pancreatic islet-cell hyperplasia (HP:0004510)2.61267429
50Neoplasm of the adrenal cortex (HP:0100641)2.61095771
51Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)2.58984906
52Abnormality of the frontal sinuses (HP:0002687)2.58931099
53Neoplasm of the tracheobronchial system (HP:0100552)2.58676046
54Biliary tract neoplasm (HP:0100574)2.58087780
55Pulmonary artery stenosis (HP:0004415)2.57412840
56Abnormality of the preputium (HP:0100587)2.55730950
57Recurrent skin infections (HP:0001581)2.53169542
58Breast carcinoma (HP:0003002)2.52118989
59Osteolytic defects of the hand bones (HP:0009699)2.51583758
60Osteolytic defects of the phalanges of the hand (HP:0009771)2.51583758
61Abnormality of serum amino acid levels (HP:0003112)2.51451082
62Nephroblastoma (Wilms tumor) (HP:0002667)2.49728986
63Abnormality of methionine metabolism (HP:0010901)2.48938161
64Duodenal stenosis (HP:0100867)2.48133852
65Small intestinal stenosis (HP:0012848)2.48133852
66Hypothermia (HP:0002045)2.47399083
67Embryonal renal neoplasm (HP:0011794)2.45098399
68Stenosis of the external auditory canal (HP:0000402)2.44046197
69Abnormality of the duodenum (HP:0002246)2.42038488
70Intestinal atresia (HP:0011100)2.41862612
71Abnormal hair whorl (HP:0010721)2.40490258
72Abolished electroretinogram (ERG) (HP:0000550)2.38319546
73Pancreatic cysts (HP:0001737)2.38296368
74Methylmalonic aciduria (HP:0012120)2.37568671
75Progressive inability to walk (HP:0002505)2.36669261
76Volvulus (HP:0002580)2.34882736
77Hyperinsulinemic hypoglycemia (HP:0000825)2.34400318
78Septo-optic dysplasia (HP:0100842)2.33710364
79Eosinophilia (HP:0001880)2.31573067
80Birth length less than 3rd percentile (HP:0003561)2.29442412
81Hemoptysis (HP:0002105)2.28376729
82Abnormality of the fingertips (HP:0001211)2.27408993
83Premature loss of primary teeth (HP:0006323)2.27144638
84Abnormality of vitamin B metabolism (HP:0004340)2.26414452
85Pustule (HP:0200039)2.23492514
86Abnormality of the vitamin B12 metabolism (HP:0004341)2.22327876
87Osteomyelitis (HP:0002754)2.21427853
88Medulloblastoma (HP:0002885)2.21194591
89Basal ganglia calcification (HP:0002135)2.20958176
90Stomach cancer (HP:0012126)2.17465626
91Hyperglycinemia (HP:0002154)2.17176928
92Recurrent viral infections (HP:0004429)2.16768553
93Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.14975356
94Pancreatic fibrosis (HP:0100732)2.14392514
95Chronic mucocutaneous candidiasis (HP:0002728)2.12786770
96Recurrent cutaneous fungal infections (HP:0011370)2.12786770
97Urethral obstruction (HP:0000796)2.12752999
98Cellulitis (HP:0100658)2.12528034
99True hermaphroditism (HP:0010459)2.11594672
100Sloping forehead (HP:0000340)2.11177179
101Abnormality of serine family amino acid metabolism (HP:0010894)2.10079088
102Abnormality of glycine metabolism (HP:0010895)2.10079088
103Hypoplastic female external genitalia (HP:0012815)2.09702522
104Chronic diarrhea (HP:0002028)2.09684636
105Obstructive lung disease (HP:0006536)2.08472664
106Chronic obstructive pulmonary disease (HP:0006510)2.08472664
107Submucous cleft hard palate (HP:0000176)2.08090996
108Glomerulopathy (HP:0100820)2.07436283
109Labial hypoplasia (HP:0000066)2.04467408
110Neoplasm of striated muscle (HP:0009728)2.04323017
111Bifid tongue (HP:0010297)2.03247283
112Persistence of primary teeth (HP:0006335)2.02484747
113Sensory axonal neuropathy (HP:0003390)2.01096030
114Ovarian neoplasm (HP:0100615)2.00897930
115Symptomatic seizures (HP:0011145)1.98742642
116Meningitis (HP:0001287)1.98080076
117Abnormality of the prostate (HP:0008775)1.97704854
118Supernumerary spleens (HP:0009799)1.96042093
119IgA deficiency (HP:0002720)1.95617889
120Small hand (HP:0200055)1.95411969
121Abnormality of T cell number (HP:0011839)1.94770652
122Vertebral compression fractures (HP:0002953)1.93757265
123Distal lower limb amyotrophy (HP:0008944)1.93131163
124Glomerulonephritis (HP:0000099)1.93117972
125Gonadotropin excess (HP:0000837)1.91842027
126Clubbing of toes (HP:0100760)1.91724417
127Recurrent pneumonia (HP:0006532)1.91115658
128Granulocytopenia (HP:0001913)1.90830470
129Multiple enchondromatosis (HP:0005701)1.90412448
130Bone pain (HP:0002653)1.89056397
131Agnosia (HP:0010524)1.88463364
132Neoplasm of the colon (HP:0100273)1.86657884
133Aplasia/Hypoplasia of the optic nerve (HP:0008058)1.86623328
134Tetraparesis (HP:0002273)1.86077351
135Absent radius (HP:0003974)1.86031631
136Aqueductal stenosis (HP:0002410)1.84549838
137Scrotal hypoplasia (HP:0000046)1.83382918
138Hypoplastic pelvis (HP:0008839)1.82615297
139Gastrointestinal infarctions (HP:0005244)1.82602253
140Abnormality of the pericardium (HP:0001697)1.81602011
141Abnormal biliary tract morphology (HP:0012440)1.80914047
142Dandy-Walker malformation (HP:0001305)1.79469334
143Hypoglycemic coma (HP:0001325)1.79142237
144Abnormality of eosinophils (HP:0001879)1.78459671
145Progressive sensorineural hearing impairment (HP:0000408)1.77734564
146Neoplasm of the oral cavity (HP:0100649)1.76996325
147Abnormality of homocysteine metabolism (HP:0010919)1.76973257
148Homocystinuria (HP:0002156)1.76973257
149Acute myeloid leukemia (HP:0004808)1.76693994
150Genital tract atresia (HP:0001827)1.76514284
151Intestinal fistula (HP:0100819)1.76400076
152Abnormal delayed hypersensitivity skin test (HP:0002963)1.75899343
153Myocardial infarction (HP:0001658)1.75431535
154Ectopic kidney (HP:0000086)1.75328116
155Porencephaly (HP:0002132)1.74961121
156Thyroiditis (HP:0100646)1.74863891
157Horseshoe kidney (HP:0000085)1.74858510
158Absent forearm bone (HP:0003953)1.74448664
159Aplasia involving forearm bones (HP:0009822)1.74448664
160Chromosomal breakage induced by crosslinking agents (HP:0003221)1.73556074
161Abnormality of the pancreatic islet cells (HP:0006476)1.73500962
162Abnormality of endocrine pancreas physiology (HP:0012093)1.73500962
163Abnormality of the clitoris (HP:0000056)1.73312881
164Bilateral microphthalmos (HP:0007633)1.72874870
165Abnormality of the columella (HP:0009929)1.72811415
166Uterine neoplasm (HP:0010784)1.72670338
167Abnormality of the pleura (HP:0002103)1.72035671
168Gastrointestinal atresia (HP:0002589)1.71076965
169Spastic diplegia (HP:0001264)1.70247797
170Abnormality of the labia (HP:0000058)1.70240218
171Decreased muscle mass (HP:0003199)1.70025461
172Hyperglycinuria (HP:0003108)1.69996320
173Aplasia/Hypoplasia of the sternum (HP:0006714)1.69649149
174Abnormality of the parathyroid morphology (HP:0011766)1.67942810
175Keratitis (HP:0000491)1.66407617
176Abnormality of liposaccharide metabolism (HP:0010968)1.65430767
177Abnormality of glycosphingolipid metabolism (HP:0004343)1.65430767
178Abnormality of glycolipid metabolism (HP:0010969)1.65430767
179Subacute progressive viral hepatitis (HP:0006572)1.65309323
180Abnormality of the pons (HP:0007361)1.64923009
181Molar tooth sign on MRI (HP:0002419)1.64670025
182Abnormality of midbrain morphology (HP:0002418)1.64670025
183Gingival bleeding (HP:0000225)1.64273121
184Vaginal atresia (HP:0000148)1.64241279
185Neoplasm of the small intestine (HP:0100833)1.63405703
186Nephronophthisis (HP:0000090)1.62788798
187Aseptic necrosis (HP:0010885)1.62204718
188Chromsome breakage (HP:0040012)1.61866563
189Nephritis (HP:0000123)1.61286615
190Vascular tortuosity (HP:0004948)1.60573377
191Xerostomia (HP:0000217)1.60231984
192Gangrene (HP:0100758)1.60161795
193Large earlobe (HP:0009748)1.57243211
194Arterial tortuosity (HP:0005116)1.57125602
195Arthralgia (HP:0002829)1.56798664

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K146.28297574
2TRIM283.99298726
3TNIK3.19651286
4TSSK63.19116882
5ACVR1B3.16564837
6TXK2.90454350
7BUB12.90243137
8IKBKB2.88310412
9WNK32.86517162
10IKBKE2.80367364
11BMPR22.76442529
12ERBB32.65590331
13BMPR1B2.62713811
14IRAK32.59683259
15CHUK2.54386766
16JAK32.53710319
17IRAK42.43456506
18RIPK42.41623939
19TBK12.28342702
20TTK2.26552697
21EIF2AK32.26004540
22BRSK22.18529986
23TYK22.15719515
24BRD42.15503104
25TGFBR22.06479908
26MAP3K132.02273232
27SIK31.98641893
28MKNK21.93530449
29MKNK11.91191912
30FGFR31.79625589
31JAK11.76435309
32EIF2AK21.74076218
33WEE11.70402374
34GRK11.65236469
35CDK121.62924913
36TAF11.55468941
37PLK41.55325141
38CDC71.48207300
39SGK21.42266646
40ZAK1.40773336
41PIM11.38287794
42MAP4K21.37797707
43EIF2AK11.35457145
44PRPF4B1.34591597
45NEK91.30900613
46FRK1.29117523
47TIE11.24636143
48TGFBR11.22565830
49EPHA31.22352209
50PLK21.22118922
51RPS6KA41.20555907
52MAP4K11.18180065
53PLK11.18079327
54NEK11.17735273
55MST41.14954257
56OXSR11.12769239
57AKT31.12716171
58CASK1.12291928
59NEK61.11952930
60TEC1.09247711
61MARK31.08343526
62FER1.08257739
63INSRR1.06398398
64VRK11.05715144
65FGFR21.05650975
66SGK30.99840155
67VRK20.99169702
68STK390.96653738
69ZAP700.96159896
70CSNK1G10.95973619
71HCK0.91639303
72MAP3K30.90780592
73CDK60.89403757
74EPHA20.88828919
75BCR0.86942386
76ERBB40.86385021
77PDK20.85583327
78DYRK30.84660267
79PAK30.84227701
80STK100.82540465
81PIM20.82134702
82STK240.80909188
83GRK70.79272024
84YES10.78662804
85LCK0.77519930
86ADRBK20.76593313
87STK30.72407142
88BRSK10.71377502
89TRPM70.70957451
90CSK0.68245102
91SYK0.68107886
92JAK20.67778308
93RIPK10.66650064
94CLK10.65951350
95ITK0.64494949
96TLK10.64359213
97MAP2K30.64304101
98KIT0.64114946
99EPHB10.64087401
100PASK0.64030630
101PBK0.63318360
102FGFR10.62516854
103CSNK1G20.61892500
104MAPK70.61770933
105NUAK10.61254340
106MAP3K40.60294957
107STK160.59361958
108PNCK0.59132172
109ATM0.56242226
110CSNK1G30.56136566
111PRKCE0.55532523
112LYN0.55010192
113ATR0.53681689
114RPS6KA50.53140904
115STK40.52990035
116BLK0.52725978
117NLK0.52150129
118SGK10.51817841
119CSNK1A1L0.51813663
120DYRK20.51436310
121SGK2230.49642162
122SGK4940.49642162
123MUSK0.47244844
124NME10.47148045
125PLK30.46550565
126MAPKAPK20.46102558
127PRKCD0.44290246
128PRKCG0.42757047
129CHEK20.41991126
130BMX0.40375646
131PRKCI0.39808155
132FGFR40.39486916
133CSF1R0.38952077
134ABL10.38573420
135PDGFRB0.37984859
136MAP3K120.37898668
137CDK90.37630264
138BTK0.36287004
139MELK0.35978146
140FLT30.35929128
141MAP3K50.35791199
142ALK0.35728355
143CHEK10.35439639
144SIK20.34465406
145GSK3A0.32605844
146EGFR0.32319791
147INSR0.32078708
148MINK10.31996561
149AKT10.31425866
150MAPK130.30285199
151RPS6KA60.30047701
152AURKB0.29637524
153CSNK2A10.29486811
154PRKCQ0.29305180
155DAPK20.29282478
156EPHB20.28470159
157STK38L0.28347352
158FGR0.27847955
159SRPK10.27177864
160PIK3CA0.26768832
161LATS10.26333133
162PTK60.26016415
163CSNK1E0.25537097
164PRKDC0.25246151
165PINK10.23869655
166DAPK10.21209022
167OBSCN0.19677162
168PAK40.18126980
169IGF1R0.17968389
170CDK30.17456534
171CSNK1A10.16586814
172ADRBK10.16341283

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030503.68089254
2Non-homologous end-joining_Homo sapiens_hsa034503.63944259
3Protein export_Homo sapiens_hsa030603.16288672
4Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030083.06720760
5Mismatch repair_Homo sapiens_hsa034303.06358542
6Vitamin B6 metabolism_Homo sapiens_hsa007502.78324360
7Graft-versus-host disease_Homo sapiens_hsa053322.74252008
8Allograft rejection_Homo sapiens_hsa053302.68257246
9Propanoate metabolism_Homo sapiens_hsa006402.57109045
10Leishmaniasis_Homo sapiens_hsa051402.56193117
11NF-kappa B signaling pathway_Homo sapiens_hsa040642.55812084
12NOD-like receptor signaling pathway_Homo sapiens_hsa046212.45958405
13Homologous recombination_Homo sapiens_hsa034402.42111690
14Toll-like receptor signaling pathway_Homo sapiens_hsa046202.24413993
15RNA degradation_Homo sapiens_hsa030182.23879232
16Basal transcription factors_Homo sapiens_hsa030222.21389512
17Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.19721235
18RNA polymerase_Homo sapiens_hsa030202.15890886
19Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009702.15860444
20Legionellosis_Homo sapiens_hsa051342.15767999
21Osteoclast differentiation_Homo sapiens_hsa043802.14079798
22Fanconi anemia pathway_Homo sapiens_hsa034602.10951303
23TNF signaling pathway_Homo sapiens_hsa046682.06103814
24RNA transport_Homo sapiens_hsa030132.05457840
25Steroid biosynthesis_Homo sapiens_hsa001002.03605043
26Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.03345925
27DNA replication_Homo sapiens_hsa030301.97806856
28Cysteine and methionine metabolism_Homo sapiens_hsa002701.96414673
29Measles_Homo sapiens_hsa051621.95180553
30Intestinal immune network for IgA production_Homo sapiens_hsa046721.91734052
31Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.91251629
32Type I diabetes mellitus_Homo sapiens_hsa049401.87983651
33Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.86450615
34One carbon pool by folate_Homo sapiens_hsa006701.85789821
35RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.79813165
36Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.77468215
37Selenocompound metabolism_Homo sapiens_hsa004501.76113728
38Rheumatoid arthritis_Homo sapiens_hsa053231.72519252
39Autoimmune thyroid disease_Homo sapiens_hsa053201.72429104
40Staphylococcus aureus infection_Homo sapiens_hsa051501.72112446
41Influenza A_Homo sapiens_hsa051641.71844294
42Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.71462276
43Pertussis_Homo sapiens_hsa051331.70649978
44Malaria_Homo sapiens_hsa051441.59895529
45Cell cycle_Homo sapiens_hsa041101.56894781
46Toxoplasmosis_Homo sapiens_hsa051451.50756864
47Herpes simplex infection_Homo sapiens_hsa051681.49984284
48Tuberculosis_Homo sapiens_hsa051521.49409449
49Fatty acid elongation_Homo sapiens_hsa000621.44141551
50B cell receptor signaling pathway_Homo sapiens_hsa046621.43435431
51African trypanosomiasis_Homo sapiens_hsa051431.43114365
52Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.42116931
53Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.41918249
54Asthma_Homo sapiens_hsa053101.41007578
55Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.38492772
56Salmonella infection_Homo sapiens_hsa051321.38080550
57Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.34990751
58Apoptosis_Homo sapiens_hsa042101.34990153
59Hematopoietic cell lineage_Homo sapiens_hsa046401.30646550
60Pyruvate metabolism_Homo sapiens_hsa006201.30227994
61Jak-STAT signaling pathway_Homo sapiens_hsa046301.29946825
62Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.29550123
63Chemokine signaling pathway_Homo sapiens_hsa040621.27431598
642-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.27027840
65Phototransduction_Homo sapiens_hsa047441.26738594
66Hepatitis B_Homo sapiens_hsa051611.26160765
67Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.25742673
68T cell receptor signaling pathway_Homo sapiens_hsa046601.24167105
69Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.21090483
70Viral myocarditis_Homo sapiens_hsa054161.18578372
71AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.16367614
72Butanoate metabolism_Homo sapiens_hsa006501.12259994
73Shigellosis_Homo sapiens_hsa051311.11156070
74Nucleotide excision repair_Homo sapiens_hsa034201.10921418
75Antigen processing and presentation_Homo sapiens_hsa046121.07382712
76Maturity onset diabetes of the young_Homo sapiens_hsa049501.06603024
77Pentose and glucuronate interconversions_Homo sapiens_hsa000401.06007801
78Transcriptional misregulation in cancer_Homo sapiens_hsa052021.04213623
79Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.03668416
80Vitamin digestion and absorption_Homo sapiens_hsa049771.02362814
81Spliceosome_Homo sapiens_hsa030401.02142872
82Purine metabolism_Homo sapiens_hsa002301.01173272
83Base excision repair_Homo sapiens_hsa034101.00168117
84Phagosome_Homo sapiens_hsa041450.99245334
85Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.99220919
86Oocyte meiosis_Homo sapiens_hsa041140.98173344
87Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.97625680
88Chronic myeloid leukemia_Homo sapiens_hsa052200.96754581
89Tryptophan metabolism_Homo sapiens_hsa003800.94041237
90Glutathione metabolism_Homo sapiens_hsa004800.93725116
91Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.93535502
92Prolactin signaling pathway_Homo sapiens_hsa049170.93249911
93Hepatitis C_Homo sapiens_hsa051600.92691927
94Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.91723385
95Primary immunodeficiency_Homo sapiens_hsa053400.90672867
96MicroRNAs in cancer_Homo sapiens_hsa052060.90200523
97Small cell lung cancer_Homo sapiens_hsa052220.89680947
98Acute myeloid leukemia_Homo sapiens_hsa052210.87261711
99Leukocyte transendothelial migration_Homo sapiens_hsa046700.84981109
100Pyrimidine metabolism_Homo sapiens_hsa002400.83783644
101Retinol metabolism_Homo sapiens_hsa008300.83590180
102Sulfur metabolism_Homo sapiens_hsa009200.83250851
103Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.82313029
104HTLV-I infection_Homo sapiens_hsa051660.79699710
105Amoebiasis_Homo sapiens_hsa051460.78990902
106Pancreatic cancer_Homo sapiens_hsa052120.78857274
107mRNA surveillance pathway_Homo sapiens_hsa030150.78066702
108Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.77961939
109Epstein-Barr virus infection_Homo sapiens_hsa051690.77683045
110Ether lipid metabolism_Homo sapiens_hsa005650.75775150
111Hippo signaling pathway_Homo sapiens_hsa043900.74576052
112Prion diseases_Homo sapiens_hsa050200.73441072
113Tight junction_Homo sapiens_hsa045300.72783343
114Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.72626997
115Neurotrophin signaling pathway_Homo sapiens_hsa047220.72453396
116Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.71195803
117beta-Alanine metabolism_Homo sapiens_hsa004100.70633029
118Viral carcinogenesis_Homo sapiens_hsa052030.69958472
119Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.69358474
120Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.69126448
121Notch signaling pathway_Homo sapiens_hsa043300.68499377
122Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.68396521
123Peroxisome_Homo sapiens_hsa041460.68112528
124Prostate cancer_Homo sapiens_hsa052150.67826019
125p53 signaling pathway_Homo sapiens_hsa041150.67757233
126FoxO signaling pathway_Homo sapiens_hsa040680.66359806
127Proteoglycans in cancer_Homo sapiens_hsa052050.65637636
128Regulation of actin cytoskeleton_Homo sapiens_hsa048100.65447714
129Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.65296192
130Adherens junction_Homo sapiens_hsa045200.64822987
131Caffeine metabolism_Homo sapiens_hsa002320.64324355
132TGF-beta signaling pathway_Homo sapiens_hsa043500.64206139
133Platelet activation_Homo sapiens_hsa046110.62051529
134Wnt signaling pathway_Homo sapiens_hsa043100.59404986
135Fatty acid degradation_Homo sapiens_hsa000710.58828289
136Type II diabetes mellitus_Homo sapiens_hsa049300.58250968
137Circadian rhythm_Homo sapiens_hsa047100.58220756
138Oxidative phosphorylation_Homo sapiens_hsa001900.57141618
139Metabolic pathways_Homo sapiens_hsa011000.56501538
140Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.56294143
141Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.56257586
142Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.55505792
143MAPK signaling pathway_Homo sapiens_hsa040100.55298825
144Parkinsons disease_Homo sapiens_hsa050120.54186019
145Glycosaminoglycan degradation_Homo sapiens_hsa005310.54104126
146Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.53941616
147Dorso-ventral axis formation_Homo sapiens_hsa043200.53772094
148Primary bile acid biosynthesis_Homo sapiens_hsa001200.52393808
149HIF-1 signaling pathway_Homo sapiens_hsa040660.52191525
150Hedgehog signaling pathway_Homo sapiens_hsa043400.51697527
151Focal adhesion_Homo sapiens_hsa045100.51379144
152Nitrogen metabolism_Homo sapiens_hsa009100.48786798
153Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.47760796
154Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.47695665
155Lysosome_Homo sapiens_hsa041420.47318881
156Carbon metabolism_Homo sapiens_hsa012000.46743651
157Linoleic acid metabolism_Homo sapiens_hsa005910.46676759
158Nicotine addiction_Homo sapiens_hsa050330.46162698
159Melanoma_Homo sapiens_hsa052180.45248094
160Fatty acid metabolism_Homo sapiens_hsa012120.45225784
161Colorectal cancer_Homo sapiens_hsa052100.44573700
162Chemical carcinogenesis_Homo sapiens_hsa052040.44099338
163Fat digestion and absorption_Homo sapiens_hsa049750.43650554
164SNARE interactions in vesicular transport_Homo sapiens_hsa041300.43555966
165Regulation of autophagy_Homo sapiens_hsa041400.43016703
166ECM-receptor interaction_Homo sapiens_hsa045120.42437487
167Pathways in cancer_Homo sapiens_hsa052000.41286071
168Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.40327696
169Systemic lupus erythematosus_Homo sapiens_hsa053220.39915188
170Glioma_Homo sapiens_hsa052140.39762428
171PI3K-Akt signaling pathway_Homo sapiens_hsa041510.38550456
172Starch and sucrose metabolism_Homo sapiens_hsa005000.37507076
173Arginine and proline metabolism_Homo sapiens_hsa003300.36959074
174Endometrial cancer_Homo sapiens_hsa052130.36420389
175Phosphatidylinositol signaling system_Homo sapiens_hsa040700.36216996
176ErbB signaling pathway_Homo sapiens_hsa040120.35175597
177Huntingtons disease_Homo sapiens_hsa050160.35108197
178Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.35073034
179Rap1 signaling pathway_Homo sapiens_hsa040150.34566645
180Thyroid hormone signaling pathway_Homo sapiens_hsa049190.32899597
181Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.32636713
182Basal cell carcinoma_Homo sapiens_hsa052170.32441080
183Biosynthesis of amino acids_Homo sapiens_hsa012300.32352423
184Renal cell carcinoma_Homo sapiens_hsa052110.30898110
185Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.30210239
186Lysine degradation_Homo sapiens_hsa003100.29536887
187alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.29499270
188* Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.28806393
189Taste transduction_Homo sapiens_hsa047420.28724396
190Steroid hormone biosynthesis_Homo sapiens_hsa001400.24716700
191N-Glycan biosynthesis_Homo sapiens_hsa005100.22935003

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