TGFBR1

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 forms a heteromeric complex with type II TGF-beta receptors when bound to TGF-beta, transducing the TGF-beta signal from the cell surface to the cytoplasm. The encoded protein is a serine/threonine protein kinase. Mutations in this gene have been associated with Loeys-Dietz aortic aneurysm syndrome (LDAS). Multiple transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1microglial cell activation (GO:0001774)7.19623130
2positive regulation by symbiont of host defense response (GO:0052509)6.46148681
3modulation by symbiont of host defense response (GO:0052031)6.46148681
4modulation by organism of immune response of other organism involved in symbiotic interaction (GO:006.46148681
5modulation by organism of defense response of other organism involved in symbiotic interaction (GO:06.46148681
6positive regulation by organism of defense response of other organism involved in symbiotic interact6.46148681
7modulation by symbiont of host immune response (GO:0052553)6.46148681
8antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G6.12203108
9positive regulation of chemokine secretion (GO:0090197)6.11839325
10regulation of interferon-beta biosynthetic process (GO:0045357)5.58792674
11macrophage activation involved in immune response (GO:0002281)5.51082041
12limb bud formation (GO:0060174)5.05894695
13mitotic sister chromatid cohesion (GO:0007064)5.02467890
14regulation of chemokine secretion (GO:0090196)4.99791978
15nuclear pore complex assembly (GO:0051292)4.95741182
16negative regulation of granulocyte differentiation (GO:0030853)4.89530365
17G-protein coupled purinergic nucleotide receptor signaling pathway (GO:0035589)4.77215958
18I-kappaB phosphorylation (GO:0007252)4.35554467
19nuclear pore organization (GO:0006999)4.29619245
20chromatin remodeling at centromere (GO:0031055)4.22613262
21response to host (GO:0075136)4.21097324
22response to host defenses (GO:0052200)4.21097324
23response to defenses of other organism involved in symbiotic interaction (GO:0052173)4.21097324
24macrophage activation (GO:0042116)4.20161050
25response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.20090728
26response to host immune response (GO:0052572)4.20090728
27CENP-A containing nucleosome assembly (GO:0034080)4.17413048
28metaphase plate congression (GO:0051310)4.07820224
29regulation of centriole replication (GO:0046599)3.92543728
30histone exchange (GO:0043486)3.91684094
31keratan sulfate catabolic process (GO:0042340)3.85009381
32regulation of attachment of spindle microtubules to kinetochore (GO:0051988)3.80546856
33establishment of chromosome localization (GO:0051303)3.76719754
34establishment of nucleus localization (GO:0040023)3.72966617
35mitotic metaphase plate congression (GO:0007080)3.67631945
36neural tube formation (GO:0001841)3.62733529
37dorsal/ventral axis specification (GO:0009950)3.60715620
38positive regulation of interferon-alpha production (GO:0032727)3.58789758
39pore complex assembly (GO:0046931)3.51700212
40regulation of sister chromatid cohesion (GO:0007063)3.51366150
41kinetochore organization (GO:0051383)3.45474063
42mitotic G2 DNA damage checkpoint (GO:0007095)3.38626645
43purinergic nucleotide receptor signaling pathway (GO:0035590)3.38153306
44regulation of interferon-alpha production (GO:0032647)3.36013664
45DNA double-strand break processing (GO:0000729)3.34493689
46non-recombinational repair (GO:0000726)3.33751579
47double-strand break repair via nonhomologous end joining (GO:0006303)3.33751579
48positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.32798939
49regulation of B cell receptor signaling pathway (GO:0050855)3.31611276
50mitotic G2/M transition checkpoint (GO:0044818)3.30469147
51hyaluronan catabolic process (GO:0030214)3.30222975
52negative regulation of axon guidance (GO:1902668)3.26885756
53negative regulation of axon extension involved in axon guidance (GO:0048843)3.26023232
54olfactory bulb development (GO:0021772)3.24877033
55sister chromatid segregation (GO:0000819)3.24553396
56sister chromatid cohesion (GO:0007062)3.24165876
57spindle checkpoint (GO:0031577)3.21661374
58regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.21387965
59cerebral cortex radially oriented cell migration (GO:0021799)3.20428173
60DNA replication-independent nucleosome assembly (GO:0006336)3.19504757
61DNA replication-independent nucleosome organization (GO:0034724)3.19504757
62negative regulation of DNA repair (GO:0045738)3.19382418
63monocyte differentiation (GO:0030224)3.18939262
64positive regulation of cellular amide metabolic process (GO:0034250)3.15504532
65pre-miRNA processing (GO:0031054)3.13237063
66replication fork processing (GO:0031297)3.12492101
67negative regulation of DNA-dependent DNA replication (GO:2000104)3.11219747
68regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)3.10206037
69cellular extravasation (GO:0045123)3.08950433
70positive regulation of antigen processing and presentation (GO:0002579)3.06311955
71regulation of chemokine-mediated signaling pathway (GO:0070099)3.03515521
72oligosaccharide catabolic process (GO:0009313)3.02896367
73kinetochore assembly (GO:0051382)3.00369882
74negative regulation of translation, ncRNA-mediated (GO:0040033)2.99746014
75regulation of translation, ncRNA-mediated (GO:0045974)2.99746014
76negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.99746014
77protein prenylation (GO:0018342)2.99506899
78prenylation (GO:0097354)2.99506899
79negative regulation of DNA recombination (GO:0045910)2.98023907
80apoptotic cell clearance (GO:0043277)2.97862853
81G-protein coupled purinergic receptor signaling pathway (GO:0035588)2.94311892
82positive regulation of interferon-gamma biosynthetic process (GO:0045078)2.94231676
83positive regulation of B cell differentiation (GO:0045579)2.94143852
84substrate-dependent cell migration (GO:0006929)2.94067548
85mitotic spindle checkpoint (GO:0071174)2.92709969
86gastrulation with mouth forming second (GO:0001702)2.92290002
87genitalia morphogenesis (GO:0035112)2.91639133
88regulation of chromosome segregation (GO:0051983)2.91370085
89regulation of Rac protein signal transduction (GO:0035020)2.90855340
90ruffle organization (GO:0031529)2.89501308
91cerebral cortex cell migration (GO:0021795)2.86320183
92positive regulation of protein autophosphorylation (GO:0031954)2.85851820
93negative chemotaxis (GO:0050919)2.84738109
94glycosphingolipid catabolic process (GO:0046479)2.83972962
95regulation of centrosome duplication (GO:0010824)2.83653383
96negative regulation of fibroblast apoptotic process (GO:2000270)2.83420530
97negative regulation of B cell proliferation (GO:0030889)2.83062650
98DNA ligation (GO:0006266)2.82160680
99macrophage differentiation (GO:0030225)2.81938714
100positive regulation of chemokine production (GO:0032722)2.81784105
101regulation of DNA endoreduplication (GO:0032875)2.81773829
102regulation of mitotic metaphase/anaphase transition (GO:0030071)2.80558859
103regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.80558859
104positive regulation of mitotic sister chromatid separation (GO:1901970)2.80553732
105positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.80553732
106positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.80553732
107response to muramyl dipeptide (GO:0032495)2.80164712
108negative regulation of tissue remodeling (GO:0034104)2.78718891
109response to X-ray (GO:0010165)2.78337266
110paraxial mesoderm development (GO:0048339)2.77475028
111monoubiquitinated protein deubiquitination (GO:0035520)2.77047209
112negative regulation of bone resorption (GO:0045779)2.76382531
113regulation of non-canonical Wnt signaling pathway (GO:2000050)2.76254231
114chondroitin sulfate catabolic process (GO:0030207)2.76171428
115UDP-N-acetylglucosamine metabolic process (GO:0006047)2.73626774
116protein localization to kinetochore (GO:0034501)2.73465712
117ventricular cardiac muscle cell development (GO:0055015)2.72495827
118positive regulation of gamma-delta T cell activation (GO:0046645)2.72316877
119phagocytosis, engulfment (GO:0006911)2.68793920
120regulation of centrosome cycle (GO:0046605)2.68158331
121kidney morphogenesis (GO:0060993)2.68011130
122regulation of collateral sprouting (GO:0048670)2.67048979
123regulation of T cell tolerance induction (GO:0002664)2.66487561
124B cell homeostasis (GO:0001782)2.66406148
125mitotic sister chromatid segregation (GO:0000070)2.65416407
126resolution of meiotic recombination intermediates (GO:0000712)2.65414750
127hindbrain development (GO:0030902)2.64943028
128somite development (GO:0061053)2.64437140
129myeloid cell activation involved in immune response (GO:0002275)2.64296065
130positive regulation of interferon-beta production (GO:0032728)2.64252197
131osteoclast differentiation (GO:0030316)2.64174514
132myelin assembly (GO:0032288)2.64014921
133NLS-bearing protein import into nucleus (GO:0006607)2.63830051
134morphogenesis of an epithelial sheet (GO:0002011)2.62515421
135regulation of mitotic sister chromatid separation (GO:0010965)2.61522179
136regulation of mitotic sister chromatid segregation (GO:0033047)2.61522179
137regulation of sister chromatid segregation (GO:0033045)2.61522179
138keratinocyte development (GO:0003334)2.60679023
139lateral sprouting from an epithelium (GO:0060601)2.56875136
140regulation of axon guidance (GO:1902667)2.56743834
141pyrimidine nucleobase catabolic process (GO:0006208)2.56717869
142positive regulation of chromosome segregation (GO:0051984)2.55938427
143female gonad development (GO:0008585)2.55810986
144positive regulation of toll-like receptor signaling pathway (GO:0034123)2.54159413
145negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.53355762
146negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.53355762
147negative regulation of mitotic sister chromatid segregation (GO:0033048)2.53355762
148negative regulation of mitotic sister chromatid separation (GO:2000816)2.53355762
149negative regulation of sister chromatid segregation (GO:0033046)2.53355762
150negative regulation of cell killing (GO:0031342)2.52631662
151negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.52631662
152midgut development (GO:0007494)2.51564423
153purinergic receptor signaling pathway (GO:0035587)2.51372166
154response to laminar fluid shear stress (GO:0034616)2.51306999
155dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.50904039
156negative regulation of bone remodeling (GO:0046851)2.50838109
157cell proliferation involved in metanephros development (GO:0072203)2.50680865
158neutrophil activation involved in immune response (GO:0002283)2.50470226
159positive regulation of erythrocyte differentiation (GO:0045648)2.49209587
160regulation of transforming growth factor beta2 production (GO:0032909)2.49142684
161anterior/posterior axis specification (GO:0009948)2.48993276
162positive regulation of glycoprotein biosynthetic process (GO:0010560)2.48766681
163glycolipid catabolic process (GO:0019377)2.48737616
164cell adhesion mediated by integrin (GO:0033627)2.46718245
165mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.46621805
166response to peptidoglycan (GO:0032494)2.45875480
167tolerance induction (GO:0002507)2.45247343
168immunoglobulin mediated immune response (GO:0016064)2.43485171
169positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.42418647
170regulation of granulocyte differentiation (GO:0030852)2.41044496
171negative regulation of osteoclast differentiation (GO:0045671)2.38971340
172cortical actin cytoskeleton organization (GO:0030866)2.36959574
173regulation of antigen processing and presentation (GO:0002577)2.33114860
174regulation of monocyte differentiation (GO:0045655)2.33087044
175regulation of mast cell degranulation (GO:0043304)2.32880741
176regulation of interferon-gamma biosynthetic process (GO:0045072)2.32664177
177positive regulation of leukocyte degranulation (GO:0043302)2.31511835
178response to fluid shear stress (GO:0034405)2.30579800
179regulation of mast cell activation involved in immune response (GO:0033006)2.28962773
180negative regulation of interleukin-6 production (GO:0032715)2.28451880
181neuron projection extension involved in neuron projection guidance (GO:1902284)2.28141580
182axon extension involved in axon guidance (GO:0048846)2.28141580
183myeloid leukocyte activation (GO:0002274)2.28009429
184outer ear morphogenesis (GO:0042473)2.27608515
185regulation of bone resorption (GO:0045124)2.27483292
186negative regulation of interleukin-12 production (GO:0032695)2.24284168
187neutrophil activation (GO:0042119)2.23711688
188regulation of bone remodeling (GO:0046850)2.22392781
189detection of molecule of bacterial origin (GO:0032490)2.21687314
190ceramide catabolic process (GO:0046514)2.21370113
191response to lipoprotein particle (GO:0055094)2.20225436
192receptor catabolic process (GO:0032801)2.18440445
193positive regulation of mast cell degranulation (GO:0043306)2.18034287
194positive regulation of mast cell activation involved in immune response (GO:0033008)2.18034287

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EGR1_19374776_ChIP-ChIP_THP-1_Human5.08208659
2FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.48997601
3IRF8_21731497_ChIP-ChIP_J774_Mouse4.08963364
4* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse4.04203230
5IRF8_27001747_Chip-Seq_BMDM_Mouse4.03148433
6RBPJ_22232070_ChIP-Seq_NCS_Mouse3.95992053
7SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.74293528
8BP1_19119308_ChIP-ChIP_Hs578T_Human3.69095690
9STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse3.31351462
10IRF8_22096565_ChIP-ChIP_GC-B_Human3.20979713
11NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse3.04107234
12STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.01340688
13Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.82680337
14* STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.71799031
15POU3F2_20337985_ChIP-ChIP_501MEL_Human2.61826472
16SCL_19346495_ChIP-Seq_HPC-7_Human2.40965956
17* E2F4_17652178_ChIP-ChIP_JURKAT_Human2.33789146
18EWS_26573619_Chip-Seq_HEK293_Human2.33190349
19MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.32950064
20TAF15_26573619_Chip-Seq_HEK293_Human2.32213357
21GBX2_23144817_ChIP-Seq_PC3_Human2.29910837
22ZFP57_27257070_Chip-Seq_ESCs_Mouse2.29713124
23FOXM1_23109430_ChIP-Seq_U2OS_Human2.19784049
24P300_19829295_ChIP-Seq_ESCs_Human2.18570199
25AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.16509538
26FUS_26573619_Chip-Seq_HEK293_Human2.06828358
27GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.02690826
28VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.97542734
29VDR_24787735_ChIP-Seq_THP-1_Human1.96303706
30WT1_19549856_ChIP-ChIP_CCG9911_Human1.94589902
31KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.94266420
32* RUNX_20019798_ChIP-Seq_JUKART_Human1.90573522
33* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.88796863
34MYB_21317192_ChIP-Seq_ERMYB_Mouse1.87109031
35PIAS1_25552417_ChIP-Seq_VCAP_Human1.86081390
36SPI1_23127762_ChIP-Seq_K562_Human1.83982749
37NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.82599936
38TCF7_22412390_ChIP-Seq_EML_Mouse1.80965985
39FLI1_27457419_Chip-Seq_LIVER_Mouse1.79336566
40CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.78954209
41MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.78321325
42OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.77986293
43PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.76369021
44FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.74997856
45SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.71690158
46PU_27001747_Chip-Seq_BMDM_Mouse1.66581268
47SMAD3_21741376_ChIP-Seq_EPCs_Human1.66081948
48EZH2_27294783_Chip-Seq_NPCs_Mouse1.65389967
49SALL1_21062744_ChIP-ChIP_HESCs_Human1.64967919
50ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.64105143
51POU5F1_16153702_ChIP-ChIP_HESCs_Human1.63804156
52SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.62468456
53FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.59554275
54CLOCK_20551151_ChIP-Seq_293T_Human1.59209160
55TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.59208131
56VDR_24763502_ChIP-Seq_THP-1_Human1.57799465
57CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.56751199
58NFIB_24661679_ChIP-Seq_LUNG_Mouse1.56727540
59SMAD4_21799915_ChIP-Seq_A2780_Human1.56308726
60CDX2_19796622_ChIP-Seq_MESCs_Mouse1.55160598
61* EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.54980982
62SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.54964554
63FOXM1_26456572_ChIP-Seq_MCF-7_Human1.54570934
64SUZ12_27294783_Chip-Seq_NPCs_Mouse1.52657061
65NANOG_18555785_Chip-Seq_ESCs_Mouse1.51598242
66MYC_22102868_ChIP-Seq_BL_Human1.51515142
67IGF1R_20145208_ChIP-Seq_DFB_Human1.50953883
68ELK1_19687146_ChIP-ChIP_HELA_Human1.50496154
69MYB_26560356_Chip-Seq_TH2_Human1.49111100
70ESR1_21235772_ChIP-Seq_MCF-7_Human1.48509742
71ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.47314547
72* PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.46833908
73PCGF2_27294783_Chip-Seq_ESCs_Mouse1.46176074
74NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.46174902
75NRF2_20460467_ChIP-Seq_MEFs_Mouse1.46174902
76IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.44621023
77CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.43823211
78SPI1_23547873_ChIP-Seq_NB4_Human1.43814940
79RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.42822879
80AR_21909140_ChIP-Seq_LNCAP_Human1.42750062
81CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.40803122
82NFE2_27457419_Chip-Seq_LIVER_Mouse1.40645610
83TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.39949621
84CTBP2_25329375_ChIP-Seq_LNCAP_Human1.38442400
85EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.38355337
86VDR_22108803_ChIP-Seq_LS180_Human1.37134364
87ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.36831674
88* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.36630362
89TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.35941584
90ZNF217_24962896_ChIP-Seq_MCF-7_Human1.34176620
91VDR_21846776_ChIP-Seq_THP-1_Human1.33606953
92KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.31920534
93SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.31253906
94STAT3_23295773_ChIP-Seq_U87_Human1.30834858
95UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.30820585
96PCGF2_27294783_Chip-Seq_NPCs_Mouse1.30732612
97E2F1_18555785_Chip-Seq_ESCs_Mouse1.30695996
98STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.30608606
99CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.30504928
100SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.30373224
101* BRD4_25478319_ChIP-Seq_HGPS_Human1.29189863
102* MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.28917719
103P53_22387025_ChIP-Seq_ESCs_Mouse1.28266572
104CMYC_18555785_Chip-Seq_ESCs_Mouse1.28072805
105TOP2B_26459242_ChIP-Seq_MCF-7_Human1.27582183
106CJUN_26792858_Chip-Seq_BT549_Human1.27551216
107BCAT_22108803_ChIP-Seq_LS180_Human1.27450751
108ZNF274_21170338_ChIP-Seq_K562_Hela1.27330017
109NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.26668694
110MAF_26560356_Chip-Seq_TH1_Human1.25637022
111HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.25269167
112IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.24728495
113* DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.23865833
114TP53_18474530_ChIP-ChIP_U2OS_Human1.23853128
115TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.23702274
116GATA2_21666600_ChIP-Seq_HMVEC_Human1.23550677
117CTBP1_25329375_ChIP-Seq_LNCAP_Human1.23230879
118MYB_26560356_Chip-Seq_TH1_Human1.21667307
119PKCTHETA_26484144_Chip-Seq_BREAST_Human1.21309219
120RUNX1_22412390_ChIP-Seq_EML_Mouse1.20980267
121FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human1.19533106
122* SUZ12_18555785_Chip-Seq_ESCs_Mouse1.19376484
123* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.18731993
124GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18266268
125TP53_16413492_ChIP-PET_HCT116_Human1.17939608
126KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.17508427
127ER_23166858_ChIP-Seq_MCF-7_Human1.16637919
128SALL4_18804426_ChIP-ChIP_XEN_Mouse1.16521523
129AR_25329375_ChIP-Seq_VCAP_Human1.15887936
130CRX_20693478_ChIP-Seq_RETINA_Mouse1.15234215
131MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.15178745
132NR3C1_21868756_ChIP-Seq_MCF10A_Human1.15033661
133TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14696255
134POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.14696255
135KDM2B_26808549_Chip-Seq_SUP-B15_Human1.14615773
136RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.14205931
137KDM2B_26808549_Chip-Seq_DND41_Human1.12903913
138TBX3_20139965_ChIP-Seq_MESCs_Mouse1.12781550
139TBX3_20139965_ChIP-Seq_ESCs_Mouse1.12340858
140TCF4_23295773_ChIP-Seq_U87_Human1.11991106
141P300_18555785_Chip-Seq_ESCs_Mouse1.11662430
142TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.11205462
143TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10759441
144IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.10066443
145CBP_20019798_ChIP-Seq_JUKART_Human1.10066443
146FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.09761990
147FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.09353337
148GATA1_22025678_ChIP-Seq_K562_Human1.08535266
149OCT4_21477851_ChIP-Seq_ESCs_Mouse1.08449736
150SMAD_19615063_ChIP-ChIP_OVARY_Human1.07871475
151KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.07600474
152UTX_26944678_Chip-Seq_JUKART_Human1.06742129
153* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.06701198
154LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.06102067
155SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.05956936
156RUNX2_22187159_ChIP-Seq_PCA_Human1.05729597
157HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.05489597
158* GATA3_27048872_Chip-Seq_THYMUS_Human1.05070318
159EP300_21415370_ChIP-Seq_HL-1_Mouse1.04466941
160TCF4_18268006_ChIP-ChIP_LS174T_Human1.04234142
161TCF4_22108803_ChIP-Seq_LS180_Human1.02785586
162TP63_19390658_ChIP-ChIP_HaCaT_Human1.01346599
163PPAR_26484153_Chip-Seq_NCI-H1993_Human1.01123183
164SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.98892569
165FOXO3_23340844_ChIP-Seq_DLD1_Human0.95796976
166WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.95011479
167KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.94779219
168KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.94208651
169* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.93720851
170ELK3_25401928_ChIP-Seq_HUVEC_Human0.88908776
171SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.88166800
172SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.88166800
173E2F7_22180533_ChIP-Seq_HELA_Human0.87192300
174AHR_22903824_ChIP-Seq_MCF-7_Human0.86917499
175CDX2_20551321_ChIP-Seq_CACO-2_Human0.86641949
176* KDM2B_26808549_Chip-Seq_JURKAT_Human0.86610051
177ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.85725703
178FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.85029585
179ARNT_22903824_ChIP-Seq_MCF-7_Human0.84808548
180* SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.84073612
181P300_27058665_Chip-Seq_ZR-75-30cells_Human0.83956564
182STAT4_19710469_ChIP-ChIP_TH1__Mouse0.80133642
183SOX2_20726797_ChIP-Seq_SW620_Human0.79473818
184ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.79063155
185BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.77468454

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003191_abnormal_cellular_cholesterol3.77739281
2MP0006082_CNS_inflammation3.37747938
3MP0008057_abnormal_DNA_replication3.29655277
4MP0003890_abnormal_embryonic-extraembry3.27027626
5MP0005058_abnormal_lysosome_morphology3.03508343
6MP0005171_absent_coat_pigmentation2.95494241
7MP0000569_abnormal_digit_pigmentation2.87145011
8MP0003300_gastrointestinal_ulcer2.78492855
9MP0003172_abnormal_lysosome_physiology2.76048900
10MP0001835_abnormal_antigen_presentation2.67733982
11MP0002102_abnormal_ear_morphology2.53627718
12MP0005275_abnormal_skin_tensile2.46827143
13MP0003303_peritoneal_inflammation2.46658199
14MP0010030_abnormal_orbit_morphology2.39362632
15MP0002938_white_spotting2.37143019
16MP0005671_abnormal_response_to2.25048274
17MP0003937_abnormal_limbs/digits/tail_de2.22592289
18MP0010094_abnormal_chromosome_stability2.17114779
19MP0000372_irregular_coat_pigmentation2.14207031
20MP0003436_decreased_susceptibility_to2.09960804
21MP0001293_anophthalmia2.04266102
22MP0002419_abnormal_innate_immunity2.04252588
23MP0002233_abnormal_nose_morphology2.02175097
24MP0005464_abnormal_platelet_physiology1.96898484
25MP0008438_abnormal_cutaneous_collagen1.93818597
26MP0009278_abnormal_bone_marrow1.91986940
27MP0002928_abnormal_bile_duct1.90848804
28MP0005076_abnormal_cell_differentiation1.90026695
29MP0005257_abnormal_intraocular_pressure1.86460739
30MP0009053_abnormal_anal_canal1.81538314
31MP0003252_abnormal_bile_duct1.80301049
32MP0003941_abnormal_skin_development1.76693003
33MP0002452_abnormal_antigen_presenting1.75779527
34MP0002234_abnormal_pharynx_morphology1.73495264
35MP0001286_abnormal_eye_development1.71970294
36MP0005408_hypopigmentation1.70446408
37MP0003755_abnormal_palate_morphology1.67574417
38MP0001533_abnormal_skeleton_physiology1.65238889
39MP0000778_abnormal_nervous_system1.64579903
40MP0001299_abnormal_eye_distance/1.62747038
41MP0004957_abnormal_blastocyst_morpholog1.53581478
42MP0002751_abnormal_autonomic_nervous1.52708781
43MP0003183_abnormal_peptide_metabolism1.51569369
44MP0005000_abnormal_immune_tolerance1.50624088
45MP0001800_abnormal_humoral_immune1.50563586
46MP0003136_yellow_coat_color1.48931748
47MP0001324_abnormal_eye_pigmentation1.48616136
48MP0002998_abnormal_bone_remodeling1.48460533
49MP0008058_abnormal_DNA_repair1.47418204
50MP0000428_abnormal_craniofacial_morphol1.46808207
51MP0003279_aneurysm1.46409658
52MP0000432_abnormal_head_morphology1.46270971
53MP0000465_gastrointestinal_hemorrhage1.44506421
54MP0001177_atelectasis1.43921922
55MP0003077_abnormal_cell_cycle1.42312643
56MP0001915_intracranial_hemorrhage1.41976046
57MP0002723_abnormal_immune_serum1.41432505
58MP0003935_abnormal_craniofacial_develop1.40849897
59MP0006054_spinal_hemorrhage1.40088615
60MP0003566_abnormal_cell_adhesion1.39187115
61MP0006292_abnormal_olfactory_placode1.38867190
62MP0002396_abnormal_hematopoietic_system1.38763021
63MP0000647_abnormal_sebaceous_gland1.38379238
64MP0003119_abnormal_digestive_system1.38157202
65MP0002148_abnormal_hypersensitivity_rea1.37260041
66MP0003385_abnormal_body_wall1.37131473
67MP0010352_gastrointestinal_tract_polyps1.36969963
68MP0001851_eye_inflammation1.36932762
69MP0001819_abnormal_immune_cell1.36842890
70MP0002166_altered_tumor_susceptibility1.36209364
71MP0003121_genomic_imprinting1.35928806
72MP0009703_decreased_birth_body1.32950504
73MP0002420_abnormal_adaptive_immunity1.32901131
74MP0008932_abnormal_embryonic_tissue1.30006444
75MP0000537_abnormal_urethra_morphology1.28854088
76MP0002111_abnormal_tail_morphology1.25609539
77MP0008007_abnormal_cellular_replicative1.24565274
78MP0000015_abnormal_ear_pigmentation1.24562912
79MP0002084_abnormal_developmental_patter1.23675900
80MP0004272_abnormal_basement_membrane1.23029691
81MP0010307_abnormal_tumor_latency1.22483289
82MP0003705_abnormal_hypodermis_morpholog1.21020047
83MP0005367_renal/urinary_system_phenotyp1.20667957
84MP0000516_abnormal_urinary_system1.20667957
85MP0004808_abnormal_hematopoietic_stem1.20547328
86MP0005409_darkened_coat_color1.18924554
87MP0003690_abnormal_glial_cell1.18910183
88MP0003195_calcinosis1.16057674
89MP0005390_skeleton_phenotype1.15564063
90MP0005391_vision/eye_phenotype1.15221171
91MP0008877_abnormal_DNA_methylation1.15182953
92MP0004134_abnormal_chest_morphology1.14888796
93MP0003075_altered_response_to1.14872387
94MP0005387_immune_system_phenotype1.13497501
95MP0001790_abnormal_immune_system1.13497501
96MP0004185_abnormal_adipocyte_glucose1.11757676
97* MP0000767_abnormal_smooth_muscle1.10778796
98* MP0002085_abnormal_embryonic_tissue1.10454109
99MP0005025_abnormal_response_to1.09765766
100MP0001845_abnormal_inflammatory_respons1.08433771
101MP0005023_abnormal_wound_healing1.07778843
102MP0002109_abnormal_limb_morphology1.07491096
103MP0002405_respiratory_system_inflammati1.07331801
104MP0005187_abnormal_penis_morphology1.07200538
105MP0003567_abnormal_fetal_cardiomyocyte1.07132472
106MP0009250_abnormal_appendicular_skeleto1.06672074
107MP0000733_abnormal_muscle_development1.06647740
108MP0003111_abnormal_nucleus_morphology1.06390364
109MP0008004_abnormal_stomach_pH1.06032205
110MP0002092_abnormal_eye_morphology1.05190281
111MP0000427_abnormal_hair_cycle1.04639355
112MP0005174_abnormal_tail_pigmentation1.03986223
113MP0003950_abnormal_plasma_membrane1.03982460
114MP0002933_joint_inflammation1.01970508
115MP0003828_pulmonary_edema1.01612664
116MP0000716_abnormal_immune_system1.01246842
117MP0003448_altered_tumor_morphology1.00178691
118MP0000685_abnormal_immune_system1.00116831
119MP0005197_abnormal_uvea_morphology0.99802399
120MP0000343_altered_response_to0.99732043
121MP0009384_cardiac_valve_regurgitation0.98049847
122MP0002398_abnormal_bone_marrow0.96760951
123MP0002254_reproductive_system_inflammat0.96747635
124MP0002896_abnormal_bone_mineralization0.96575017
125MP0001853_heart_inflammation0.96252569
126MP0000383_abnormal_hair_follicle0.95657966
127MP0002095_abnormal_skin_pigmentation0.95339384
128MP0005166_decreased_susceptibility_to0.94876716
129MP0005167_abnormal_blood-brain_barrier0.94155382
130MP0005670_abnormal_white_adipose0.93693234
131MP0003693_abnormal_embryo_hatching0.93242805
132MP0002006_tumorigenesis0.93031695
133MP0009672_abnormal_birth_weight0.93013898
134MP0003942_abnormal_urinary_system0.92819665
135MP0005397_hematopoietic_system_phenotyp0.92225531
136MP0001545_abnormal_hematopoietic_system0.92225531
137MP0000762_abnormal_tongue_morphology0.92161581
138MP0003795_abnormal_bone_structure0.92150639
139MP0001879_abnormal_lymphatic_vessel0.92030643
140MP0010368_abnormal_lymphatic_system0.91723280
141MP0001849_ear_inflammation0.91550735
142MP0002168_other_aberrant_phenotype0.91529314
143MP0000049_abnormal_middle_ear0.90973582
144MP0003724_increased_susceptibility_to0.90922598
145MP0003091_abnormal_cell_migration0.90496819
146MP0005508_abnormal_skeleton_morphology0.90331968
147MP0004197_abnormal_fetal_growth/weight/0.89906478
148MP0000689_abnormal_spleen_morphology0.89822717
149MP0000371_diluted_coat_color0.88726156
150MP0003938_abnormal_ear_development0.88278851
151MP0004510_myositis0.87872877
152MP0005248_abnormal_Harderian_gland0.87314125
153MP0000249_abnormal_blood_vessel0.87128185
154MP0002009_preneoplasia0.87091073
155MP0005253_abnormal_eye_physiology0.86925939
156MP0002282_abnormal_trachea_morphology0.86893397
157MP0008469_abnormal_protein_level0.86762610
158MP0004883_abnormal_blood_vessel0.85800101
159MP0010678_abnormal_skin_adnexa0.85689573
160MP0010234_abnormal_vibrissa_follicle0.85160383
161MP0004947_skin_inflammation0.84770166
162MP0002116_abnormal_craniofacial_bone0.84264278
163* MP0001672_abnormal_embryogenesis/_devel0.83402107
164* MP0005380_embryogenesis_phenotype0.83402107
165MP0010155_abnormal_intestine_physiology0.83296051
166MP0002277_abnormal_respiratory_mucosa0.83254643
167MP0002115_abnormal_skeleton_extremities0.83028763
168MP0009697_abnormal_copulation0.82957023
169MP0005503_abnormal_tendon_morphology0.82731420
170MP0002697_abnormal_eye_size0.82686098
171MP0009840_abnormal_foam_cell0.82026542
172MP0005395_other_phenotype0.81933935
173MP0003045_fibrosis0.81923869
174MP0003122_maternal_imprinting0.80826689
175MP0001186_pigmentation_phenotype0.80033513
176MP0002722_abnormal_immune_system0.79985453
177MP0003283_abnormal_digestive_organ0.79839894
178MP0002429_abnormal_blood_cell0.79691392
179* MP0001697_abnormal_embryo_size0.79366133
180MP0005193_abnormal_anterior_eye0.79245388
181MP0002113_abnormal_skeleton_development0.79092533
182* MP0003861_abnormal_nervous_system0.79057405
183* MP0002088_abnormal_embryonic_growth/wei0.78843415

Predicted human phenotypes

RankGene SetZ-score
1Systemic lupus erythematosus (HP:0002725)7.02165261
2Glomerulonephritis (HP:0000099)6.04597346
3Abnormality of glycolipid metabolism (HP:0010969)4.88775250
4Abnormality of liposaccharide metabolism (HP:0010968)4.88775250
5Abnormality of glycosphingolipid metabolism (HP:0004343)4.88775250
6Hematochezia (HP:0002573)4.41796229
7Complement deficiency (HP:0004431)4.38483832
8Disinhibition (HP:0000734)4.05744670
9Increased cerebral lipofuscin (HP:0011813)3.91184243
10Recurrent abscess formation (HP:0002722)3.75244580
11Recurrent bacterial skin infections (HP:0005406)3.63949845
12Volvulus (HP:0002580)3.62325160
13Retinal atrophy (HP:0001105)3.62018787
14Increased neuronal autofluorescent lipopigment (HP:0002074)3.54958947
15Abnormality of complement system (HP:0005339)3.48546551
16Urethral obstruction (HP:0000796)3.44140798
17Dysostosis multiplex (HP:0000943)3.43703178
18Eczematoid dermatitis (HP:0000976)3.33876647
19Nephritis (HP:0000123)3.25739453
20Aqueductal stenosis (HP:0002410)3.18135596
21Bifid tongue (HP:0010297)3.06298833
22Mutism (HP:0002300)2.97499281
23Urinary glycosaminoglycan excretion (HP:0003541)2.89317194
24Mucopolysacchariduria (HP:0008155)2.89317194
25Abnormality of chromosome stability (HP:0003220)2.84848193
26Spondylolisthesis (HP:0003302)2.83384988
27Chromosomal breakage induced by crosslinking agents (HP:0003221)2.83052184
28Chronic diarrhea (HP:0002028)2.80978391
29Abnormality of mucopolysaccharide metabolism (HP:0011020)2.80876985
30Abnormality of polysaccharide metabolism (HP:0011012)2.80876985
31Abnormality of glycosaminoglycan metabolism (HP:0004371)2.80876985
32Abnormal lung lobation (HP:0002101)2.71659484
33Chromsome breakage (HP:0040012)2.70097781
34Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.67181666
35Rhabdomyosarcoma (HP:0002859)2.66209459
36Vacuolated lymphocytes (HP:0001922)2.65188731
37Recurrent gram-negative bacterial infections (HP:0005420)2.64951957
38Agnosia (HP:0010524)2.64015270
39Aplasia/Hypoplasia of the uvula (HP:0010293)2.50363943
40Absent frontal sinuses (HP:0002688)2.42075958
41Upper motor neuron abnormality (HP:0002127)2.37623907
42* Arterial tortuosity (HP:0005116)2.35455020
43Embryonal renal neoplasm (HP:0011794)2.34439326
44Septo-optic dysplasia (HP:0100842)2.32599615
45Nephroblastoma (Wilms tumor) (HP:0002667)2.30151439
46* Cerebral aneurysm (HP:0004944)2.28415473
47Papillary thyroid carcinoma (HP:0002895)2.27721375
48Abnormality of the ischium (HP:0003174)2.26981987
49Inappropriate behavior (HP:0000719)2.25793706
50Small hand (HP:0200055)2.24376190
51Axonal loss (HP:0003447)2.24191296
52Abnormality of the phalanges of the 2nd finger (HP:0009541)2.22536329
53Myocardial infarction (HP:0001658)2.21928304
54Orthostatic hypotension (HP:0001278)2.21579031
55Long clavicles (HP:0000890)2.17246401
56Subacute progressive viral hepatitis (HP:0006572)2.16308183
57Preaxial foot polydactyly (HP:0001841)2.15744867
58Hypoplastic pelvis (HP:0008839)2.15332700
59Deep philtrum (HP:0002002)2.13565169
60* Mitral valve prolapse (HP:0001634)2.13486071
61* Aortic aneurysm (HP:0004942)2.12125627
62Meckel diverticulum (HP:0002245)2.10717409
63Colitis (HP:0002583)2.09166187
64Short 4th metacarpal (HP:0010044)2.08651510
65Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.08651510
66Osteolytic defects of the hand bones (HP:0009699)2.08440350
67Osteolytic defects of the phalanges of the hand (HP:0009771)2.08440350
68Ependymoma (HP:0002888)2.08352487
69Pathologic fracture (HP:0002756)2.07933237
70Intestinal fistula (HP:0100819)2.07170031
71Cardiomegaly (HP:0001640)2.06455999
72* Disproportionate tall stature (HP:0001519)2.05568199
73Recurrent skin infections (HP:0001581)2.04366795
74Renal hypoplasia (HP:0000089)2.02531772
75Abnormality of the ileum (HP:0001549)2.01088588
76Rectal fistula (HP:0100590)2.00121682
77Rectovaginal fistula (HP:0000143)2.00121682
78Thyroiditis (HP:0100646)1.99905476
79Abnormality of the astrocytes (HP:0100707)1.98528508
80Astrocytoma (HP:0009592)1.98528508
81Glioma (HP:0009733)1.98011314
82Pulmonic stenosis (HP:0001642)1.97551158
83Hemivertebrae (HP:0002937)1.97266378
84Abnormality of macrophages (HP:0004311)1.97057023
85Syringomyelia (HP:0003396)1.96953192
86Spinal cord lesions (HP:0100561)1.96953192
87Abnormality of the duodenum (HP:0002246)1.96861898
88Camptodactyly of toe (HP:0001836)1.96299725
89* Vascular tortuosity (HP:0004948)1.95242926
90Cutaneous finger syndactyly (HP:0010554)1.94805240
91Anophthalmia (HP:0000528)1.93631612
92Spontaneous hematomas (HP:0007420)1.93142515
93Hypoplastic labia majora (HP:0000059)1.92788149
94Small intestinal stenosis (HP:0012848)1.92517164
95Duodenal stenosis (HP:0100867)1.92517164
96Neoplasm of striated muscle (HP:0009728)1.92397447
97Mild short stature (HP:0003502)1.92144567
98Morphological abnormality of the middle ear (HP:0008609)1.91815976
99Myositis (HP:0100614)1.91455351
100Thickened calvaria (HP:0002684)1.90953067
101Bilateral sensorineural hearing impairment (HP:0008619)1.90774154
102Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.90369468
103Overgrowth (HP:0001548)1.90267792
104Midline defect of the nose (HP:0004122)1.90150014
105Neuronal loss in central nervous system (HP:0002529)1.89581049
106* Soft skin (HP:0000977)1.89556676
107Mesomelia (HP:0003027)1.88936247
108Abnormality of the septum pellucidum (HP:0007375)1.87966829
109Severe Myopia (HP:0011003)1.86655416
110Genital tract atresia (HP:0001827)1.85838754
111Cortical dysplasia (HP:0002539)1.85088885
112Vaginal fistula (HP:0004320)1.84978806
113Transitional cell carcinoma of the bladder (HP:0006740)1.84587894
114Apathy (HP:0000741)1.84478341
115* Aortic dissection (HP:0002647)1.84380147
116Fibular hypoplasia (HP:0003038)1.83985376
117Myelomeningocele (HP:0002475)1.83263494
118Shallow orbits (HP:0000586)1.83163204
119Gingivitis (HP:0000230)1.83025546
120Abnormality of the fingertips (HP:0001211)1.82854236
121Large earlobe (HP:0009748)1.81942231
122Bone pain (HP:0002653)1.81633726
123Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.79658590
124Abnormality of the peritoneum (HP:0002585)1.78917798
125Oligodactyly (hands) (HP:0001180)1.78551950
126Abnormality of the antihelix (HP:0009738)1.78418017
127Basal ganglia calcification (HP:0002135)1.78011639
128Cystic hygroma (HP:0000476)1.77855356
129Hereditary nonpolyposis colorectal carcinoma (HP:0006716)1.77420106
130Dyschromatopsia (HP:0007641)1.76859377
131Diminished motivation (HP:0000745)1.76326652
132Periodontitis (HP:0000704)1.75912997
133Vaginal atresia (HP:0000148)1.75851096
134Asymmetry of the thorax (HP:0001555)1.75725836
135Dandy-Walker malformation (HP:0001305)1.75689737
136Recurrent fungal infections (HP:0002841)1.75030253
137Labial hypoplasia (HP:0000066)1.74952480
138Ectopic kidney (HP:0000086)1.74398848
139Intestinal atresia (HP:0011100)1.74208937
140Uterine leiomyosarcoma (HP:0002891)1.74196050
141Leiomyosarcoma (HP:0100243)1.74196050
142Vitreoretinal degeneration (HP:0000655)1.74160744
143Absent septum pellucidum (HP:0001331)1.73998849
144Arterial thrombosis (HP:0004420)1.73937611
145Abnormality of the labia minora (HP:0012880)1.73334920
146Curly hair (HP:0002212)1.73273399
147Abnormality of the labia majora (HP:0012881)1.72663981
148Long nose (HP:0003189)1.72449072
149Bladder carcinoma (HP:0002862)1.71633577
150Bladder neoplasm (HP:0009725)1.71633577
151Renal duplication (HP:0000075)1.71539609
152Medulloblastoma (HP:0002885)1.71331598
153Narrow palate (HP:0000189)1.70796349
154Thick nail (HP:0001805)1.70088995
155Increased density of long bones (HP:0006392)1.68408323
156Gastrointestinal atresia (HP:0002589)1.68362127
157Colon cancer (HP:0003003)1.67853924
158Thyroid carcinoma (HP:0002890)1.67610460
159Hypoplastic female external genitalia (HP:0012815)1.67458310
160Abnormality of the 4th metacarpal (HP:0010012)1.67333127
161Chorioretinal atrophy (HP:0000533)1.66847391
162Aplasia/Hypoplasia of the sternum (HP:0006714)1.66071993
163Neoplasm of the adrenal cortex (HP:0100641)1.65997670
164Anal stenosis (HP:0002025)1.64861126
165Gastrointestinal carcinoma (HP:0002672)1.64579853
166Malignant gastrointestinal tract tumors (HP:0006749)1.64579853
167Peripheral demyelination (HP:0011096)1.64191716
168Impaired platelet aggregation (HP:0003540)1.64071746
169Abnormal platelet function (HP:0011869)1.64071746
170Broad ribs (HP:0000885)1.63608648
171Coarse hair (HP:0002208)1.63395919
172Inflammation of the large intestine (HP:0002037)1.63340231
173Eosinophilia (HP:0001880)1.62849837
174Aplasia/Hypoplasia involving the sinuses (HP:0009120)1.62340190
175Absent eyebrow (HP:0002223)1.61468284
176Neoplasm of the oral cavity (HP:0100649)1.60995537
177Interstitial pulmonary disease (HP:0006530)1.60994860
178Osteomyelitis (HP:0002754)1.60962687
179Hypoplastic ischia (HP:0003175)1.60707061
180Cupped ear (HP:0000378)1.59911970
181Hyperacusis (HP:0010780)1.58967868
182Cutaneous syndactyly (HP:0012725)1.58860925
183Abnormal auditory evoked potentials (HP:0006958)1.58096132
184Clubbing of toes (HP:0100760)1.57469274
185Broad long bones (HP:0005622)1.56837053
186Disproportionate short-trunk short stature (HP:0003521)1.56596456
187Drooling (HP:0002307)1.56559408

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAPK154.50395882
2* TGFBR24.22332607
3TRIM283.37407397
4GRK73.28003526
5CSF1R3.27529353
6TNIK3.03533181
7MKNK22.97146011
8WNK32.87878859
9CAMK1D2.81373038
10ACVR1B2.54950920
11BRSK22.38534965
12EIF2AK32.29850215
13BCR2.25873174
14PAK42.17634205
15WEE12.15925732
16CAMK1G2.15164867
17TYK22.14762482
18PLK32.09978566
19PKN22.08526266
20PDK21.89061475
21PLK41.84261272
22BUB11.84160464
23CASK1.82758852
24PLK21.80031331
25ERBB31.79773315
26CDK61.75977754
27STK101.75391786
28ITK1.74369895
29SRPK11.70665110
30NEK91.69782189
31PTK61.69234004
32TAF11.65319133
33PNCK1.63037688
34STK38L1.61961333
35IRAK41.60896491
36PBK1.58406602
37BMPR1B1.57967207
38MAP3K141.52510241
39CDK121.52200425
40MAP3K101.51351441
41TBK11.50757058
42CLK11.44884637
43JAK11.43795993
44EEF2K1.43209795
45LATS11.42246236
46TTK1.39003934
47TSSK61.35253725
48CDC71.33405838
49STK31.32556553
50FGFR31.31150144
51FGFR21.29407137
52PDGFRA1.29340925
53STK391.26931056
54ZAP701.26733112
55RIPK41.23492779
56VRK11.21571233
57RPS6KA41.19128198
58HCK1.13984368
59CDK31.09239303
60NLK1.08795988
61EPHB21.08490271
62CHUK1.06307960
63PAK21.04894089
64PLK11.01407899
65CSK1.00801404
66NUAK11.00218781
67MAP4K11.00134972
68TRIB30.98822112
69INSRR0.97731242
70ERN10.96735275
71EPHA40.96313477
72KSR10.95314237
73ZAK0.95303619
74JAK20.94422140
75STK240.91793344
76NEK10.91727223
77FGFR40.90554181
78YES10.89955432
79OXSR10.89615676
80ERBB40.89580963
81PDGFRB0.87965137
82EIF2AK10.87940857
83IKBKB0.87701010
84DYRK30.86991372
85BLK0.86741760
86SIK10.86654309
87LYN0.86240216
88KIT0.85621753
89MAP3K30.85557505
90MAP2K30.85180529
91AKT30.85144517
92IRAK30.84841491
93CDK90.83791860
94BRD40.82238068
95MARK30.81508640
96RIPK10.78379859
97SCYL20.73810799
98IGF1R0.73559269
99ATM0.73434483
100SGK20.73083534
101LCK0.72090921
102GSK3A0.71344832
103TXK0.71246944
104MATK0.70393316
105EPHA30.69592248
106MAPKAPK20.69583628
107SIK20.69195397
108JAK30.69178586
109MAP3K40.67772043
110MELK0.67348310
111FGR0.67074437
112LATS20.65618008
113NEK20.65425521
114BTK0.65173594
115CAMK40.64428883
116FRK0.63816816
117MAPK70.63736406
118TTN0.62846644
119MAP3K130.62228815
120PAK30.62133635
121EGFR0.61716549
122FER0.60550775
123ATR0.59437218
124EIF2AK20.59148948
125CAMKK20.58854969
126MAPK120.58581919
127CSNK1G10.58202271
128MET0.57480638
129MST40.57264998
130BRSK10.56746037
131ICK0.56534989
132EPHB10.56268182
133SIK30.56038730
134DDR20.55498582
135PRKCE0.54575662
136PIK3CG0.52959957
137DMPK0.52426885
138FGFR10.52097138
139TGFBR10.52095484
140MTOR0.51655842
141AURKB0.51230452
142MKNK10.51198479
143ERBB20.51178312
144CHEK20.50777633
145INSR0.49460641
146MOS0.48144864
147SGK30.48026415
148DYRK1B0.47961586
149TEC0.47376623
150FLT30.46667296
151ADRBK20.46581667
152STK40.45416750
153TRPM70.45336905
154MINK10.43836046
155CSNK1G20.43469747
156IRAK20.43082074
157STK110.42063626
158ROCK20.40153620
159ROCK10.37007832
160DYRK1A0.35953082
161NEK60.35939497
162ADRBK10.35244918
163PIK3CA0.34630802
164MAP3K20.34621594
165MAPK130.34247483
166CHEK10.33036130
167ABL10.32613318

Predicted pathways (KEGG)

RankGene SetZ-score
1Non-homologous end-joining_Homo sapiens_hsa034504.49915523
2Glycosaminoglycan degradation_Homo sapiens_hsa005313.60486694
3Staphylococcus aureus infection_Homo sapiens_hsa051503.52420255
4Mismatch repair_Homo sapiens_hsa034302.79109916
5Other glycan degradation_Homo sapiens_hsa005112.71406915
6Fanconi anemia pathway_Homo sapiens_hsa034602.65024307
7Hedgehog signaling pathway_Homo sapiens_hsa043402.56822285
8Cell cycle_Homo sapiens_hsa041102.48269943
9Homologous recombination_Homo sapiens_hsa034402.41415304
10* Osteoclast differentiation_Homo sapiens_hsa043802.35062069
11Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.25450861
12Lysosome_Homo sapiens_hsa041422.25398885
13Steroid biosynthesis_Homo sapiens_hsa001002.23439831
14Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.20074464
15Leishmaniasis_Homo sapiens_hsa051402.16588591
16p53 signaling pathway_Homo sapiens_hsa041151.99554515
17B cell receptor signaling pathway_Homo sapiens_hsa046621.90465549
18Basal transcription factors_Homo sapiens_hsa030221.88924986
19Toll-like receptor signaling pathway_Homo sapiens_hsa046201.84581395
20Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.78036340
21Propanoate metabolism_Homo sapiens_hsa006401.77513967
22Protein export_Homo sapiens_hsa030601.77480794
23Pertussis_Homo sapiens_hsa051331.76040309
24* Hippo signaling pathway_Homo sapiens_hsa043901.73907505
25Antigen processing and presentation_Homo sapiens_hsa046121.67330328
26Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.61302670
27* Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.60427290
28RNA transport_Homo sapiens_hsa030131.60367595
29Toxoplasmosis_Homo sapiens_hsa051451.59970399
30Wnt signaling pathway_Homo sapiens_hsa043101.58260415
31* Chronic myeloid leukemia_Homo sapiens_hsa052201.53599465
32Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.51292422
33Legionellosis_Homo sapiens_hsa051341.47494182
34Nucleotide excision repair_Homo sapiens_hsa034201.45072805
35NF-kappa B signaling pathway_Homo sapiens_hsa040641.40780764
36Tuberculosis_Homo sapiens_hsa051521.35930005
37Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.33448339
38Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.32224428
39RNA degradation_Homo sapiens_hsa030181.32150613
40Notch signaling pathway_Homo sapiens_hsa043301.31204494
41Axon guidance_Homo sapiens_hsa043601.30447689
42Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.30050113
43Complement and coagulation cascades_Homo sapiens_hsa046101.27173895
44Leukocyte transendothelial migration_Homo sapiens_hsa046701.26784700
45Measles_Homo sapiens_hsa051621.26120882
46Prion diseases_Homo sapiens_hsa050201.23689168
47Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.23516027
48* Pancreatic cancer_Homo sapiens_hsa052121.22201745
49TNF signaling pathway_Homo sapiens_hsa046681.21534390
50Influenza A_Homo sapiens_hsa051641.20707328
51Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.19473720
52Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.17523804
53Hematopoietic cell lineage_Homo sapiens_hsa046401.15537756
54Oocyte meiosis_Homo sapiens_hsa041141.13913344
55* Adherens junction_Homo sapiens_hsa045201.13190539
56Transcriptional misregulation in cancer_Homo sapiens_hsa052021.12663827
57* Colorectal cancer_Homo sapiens_hsa052101.10581220
58Viral myocarditis_Homo sapiens_hsa054161.09310999
59* AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.08138931
60Small cell lung cancer_Homo sapiens_hsa052221.07160747
61DNA replication_Homo sapiens_hsa030301.06176035
62Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.04995767
63Apoptosis_Homo sapiens_hsa042101.04614088
64* Hepatitis B_Homo sapiens_hsa051611.03637405
65Malaria_Homo sapiens_hsa051441.02630133
66Protein digestion and absorption_Homo sapiens_hsa049741.02195412
67Chemokine signaling pathway_Homo sapiens_hsa040620.98947364
68NOD-like receptor signaling pathway_Homo sapiens_hsa046210.98678413
69Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.98572517
70Renal cell carcinoma_Homo sapiens_hsa052110.98487919
71Neurotrophin signaling pathway_Homo sapiens_hsa047220.97185050
72Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.97025855
73Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.96285299
74Proteoglycans in cancer_Homo sapiens_hsa052050.95857738
75MicroRNAs in cancer_Homo sapiens_hsa052060.95820915
76Platelet activation_Homo sapiens_hsa046110.95234125
77Melanogenesis_Homo sapiens_hsa049160.93157077
78Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.91861414
79Phagosome_Homo sapiens_hsa041450.91677123
80T cell receptor signaling pathway_Homo sapiens_hsa046600.91341437
81Herpes simplex infection_Homo sapiens_hsa051680.90760646
82Ether lipid metabolism_Homo sapiens_hsa005650.90327544
83Prostate cancer_Homo sapiens_hsa052150.90257045
84Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.88103708
85Focal adhesion_Homo sapiens_hsa045100.86925813
86Amoebiasis_Homo sapiens_hsa051460.84380421
87Selenocompound metabolism_Homo sapiens_hsa004500.84244127
88Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.83399936
89Tight junction_Homo sapiens_hsa045300.82101761
90Salmonella infection_Homo sapiens_hsa051320.81210646
91* Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.79404926
92Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.78615160
93Non-small cell lung cancer_Homo sapiens_hsa052230.77871634
94Jak-STAT signaling pathway_Homo sapiens_hsa046300.77527083
95Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.77386200
96Shigellosis_Homo sapiens_hsa051310.76364916
97Primary bile acid biosynthesis_Homo sapiens_hsa001200.76131620
98Viral carcinogenesis_Homo sapiens_hsa052030.76077502
99Acute myeloid leukemia_Homo sapiens_hsa052210.76058215
100* HTLV-I infection_Homo sapiens_hsa051660.75782524
101Prolactin signaling pathway_Homo sapiens_hsa049170.75661464
102Lysine degradation_Homo sapiens_hsa003100.74689800
103mTOR signaling pathway_Homo sapiens_hsa041500.73806262
104Cysteine and methionine metabolism_Homo sapiens_hsa002700.73725277
105mRNA surveillance pathway_Homo sapiens_hsa030150.71984743
106Regulation of actin cytoskeleton_Homo sapiens_hsa048100.71236354
107Insulin resistance_Homo sapiens_hsa049310.70490991
108Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.70257818
109Endometrial cancer_Homo sapiens_hsa052130.69337401
110Rap1 signaling pathway_Homo sapiens_hsa040150.67748677
111ABC transporters_Homo sapiens_hsa020100.67093698
112Systemic lupus erythematosus_Homo sapiens_hsa053220.66765766
113* TGF-beta signaling pathway_Homo sapiens_hsa043500.66350566
114Glioma_Homo sapiens_hsa052140.65215276
115Type II diabetes mellitus_Homo sapiens_hsa049300.65079751
116Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.64795107
117Thyroid cancer_Homo sapiens_hsa052160.64371391
118Intestinal immune network for IgA production_Homo sapiens_hsa046720.63557624
119* Pathways in cancer_Homo sapiens_hsa052000.62492482
120Carbohydrate digestion and absorption_Homo sapiens_hsa049730.62256784
121ECM-receptor interaction_Homo sapiens_hsa045120.61648069
122RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.61280582
123* Endocytosis_Homo sapiens_hsa041440.61000721
124N-Glycan biosynthesis_Homo sapiens_hsa005100.60033515
125* FoxO signaling pathway_Homo sapiens_hsa040680.59188290
126Proteasome_Homo sapiens_hsa030500.58337941
127Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.58327288
128Rheumatoid arthritis_Homo sapiens_hsa053230.57825027
129Sphingolipid metabolism_Homo sapiens_hsa006000.57534543
130Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.57342584
131Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.56441984
132Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.55294520
133Hepatitis C_Homo sapiens_hsa051600.55127035
134Vitamin B6 metabolism_Homo sapiens_hsa007500.51828428
135Estrogen signaling pathway_Homo sapiens_hsa049150.51566289
136Epstein-Barr virus infection_Homo sapiens_hsa051690.51080413
137Inositol phosphate metabolism_Homo sapiens_hsa005620.47763761
138Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.47669762
139PI3K-Akt signaling pathway_Homo sapiens_hsa041510.47606580
140Melanoma_Homo sapiens_hsa052180.47406548
141Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.45981074
142Thyroid hormone signaling pathway_Homo sapiens_hsa049190.45452548
143Basal cell carcinoma_Homo sapiens_hsa052170.45355036
144Nitrogen metabolism_Homo sapiens_hsa009100.43234290
145Dorso-ventral axis formation_Homo sapiens_hsa043200.43170792
146Phototransduction_Homo sapiens_hsa047440.39045035
147Gap junction_Homo sapiens_hsa045400.38180662
148Base excision repair_Homo sapiens_hsa034100.33312319
149Ras signaling pathway_Homo sapiens_hsa040140.30587451
150Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.30555737
151Central carbon metabolism in cancer_Homo sapiens_hsa052300.27828378
152HIF-1 signaling pathway_Homo sapiens_hsa040660.26289462
153Pancreatic secretion_Homo sapiens_hsa049720.24604103
154Long-term depression_Homo sapiens_hsa047300.23764329
155Spliceosome_Homo sapiens_hsa030400.22559287
156Longevity regulating pathway - mammal_Homo sapiens_hsa042110.22544396

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