SMAD2

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 belongs to the SMAD, a family of proteins similar to the gene products of the Drosophila gene 'mothers against decapentaplegic' (Mad) and the C. elegans gene Sma. SMAD proteins are signal transducers and transcriptional modulators that mediate multiple signaling pathways. This protein mediates the signal of the transforming growth factor (TGF)-beta, and thus regulates multiple cellular processes, such as cell proliferation, apoptosis, and differentiation. This protein is recruited to the TGF-beta receptors through its interaction with the SMAD anchor for receptor activation (SARA) protein. In response to TGF-beta signal, this protein is phosphorylated by the TGF-beta receptors. The phosphorylation induces the dissociation of this protein with SARA and the association with the family member SMAD4. The association with SMAD4 is important for the translocation of this protein into the nucleus, where it binds to target promoters and forms a transcription repressor complex with other cofactors. This protein can also be phosphorylated by activin type 1 receptor kinase, and mediates the signal from the activin. Alternatively spliced transcript variants have been observed for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1nuclear pore complex assembly (GO:0051292)4.64146904
2nuclear pore organization (GO:0006999)4.64033430
3negative regulation of translation involved in gene silencing by miRNA (GO:0035278)4.49399066
4negative regulation of translation, ncRNA-mediated (GO:0040033)4.49399066
5regulation of translation, ncRNA-mediated (GO:0045974)4.49399066
6regulation of pigment cell differentiation (GO:0050932)4.07113013
7DNA unwinding involved in DNA replication (GO:0006268)4.01429689
8response to pheromone (GO:0019236)3.97867015
9regulation of hippo signaling (GO:0035330)3.93857350
10mitotic sister chromatid cohesion (GO:0007064)3.91173427
11monoubiquitinated protein deubiquitination (GO:0035520)3.88039827
12protein localization to kinetochore (GO:0034501)3.87963817
13regulation of establishment of cell polarity (GO:2000114)3.87869175
14positive regulation of developmental pigmentation (GO:0048087)3.82187856
15neural tube formation (GO:0001841)3.78110141
16kidney morphogenesis (GO:0060993)3.76080287
17pore complex assembly (GO:0046931)3.75786801
18mitotic chromosome condensation (GO:0007076)3.57139763
19mitotic nuclear envelope disassembly (GO:0007077)3.53815781
20negative regulation of DNA-dependent DNA replication (GO:2000104)3.50489630
21DNA strand elongation involved in DNA replication (GO:0006271)3.48661316
22replication fork processing (GO:0031297)3.48113763
23attachment of spindle microtubules to kinetochore (GO:0008608)3.47750041
24translesion synthesis (GO:0019985)3.47529123
25L-fucose metabolic process (GO:0042354)3.46228547
26L-fucose catabolic process (GO:0042355)3.46228547
27fucose catabolic process (GO:0019317)3.46228547
28regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450913.38279756
29mitotic recombination (GO:0006312)3.36247272
30antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.34127628
31indole-containing compound catabolic process (GO:0042436)3.33126106
32indolalkylamine catabolic process (GO:0046218)3.33126106
33tryptophan catabolic process (GO:0006569)3.33126106
34membrane disassembly (GO:0030397)3.31327101
35nuclear envelope disassembly (GO:0051081)3.31327101
36regulation of establishment or maintenance of cell polarity (GO:0032878)3.28666909
37DNA replication initiation (GO:0006270)3.28224218
38telomere maintenance via semi-conservative replication (GO:0032201)3.26208572
39atrial cardiac muscle cell action potential (GO:0086014)3.26183372
40telomere maintenance via recombination (GO:0000722)3.26141041
41DNA strand elongation (GO:0022616)3.25806737
42protein prenylation (GO:0018342)3.24689085
43prenylation (GO:0097354)3.24689085
44interkinetic nuclear migration (GO:0022027)3.23925973
45protein localization to chromosome, centromeric region (GO:0071459)3.22094355
46regulation of posttranscriptional gene silencing (GO:0060147)3.20926167
47regulation of gene silencing by miRNA (GO:0060964)3.20926167
48regulation of gene silencing by RNA (GO:0060966)3.20926167
49snRNA transcription (GO:0009301)3.17839164
50postreplication repair (GO:0006301)3.17543019
51indolalkylamine metabolic process (GO:0006586)3.16627148
52signal peptide processing (GO:0006465)3.13064088
53formation of translation preinitiation complex (GO:0001731)3.11280647
54DNA replication-dependent nucleosome organization (GO:0034723)3.11167393
55DNA replication-dependent nucleosome assembly (GO:0006335)3.11167393
56DNA replication checkpoint (GO:0000076)3.10060290
57mitotic metaphase plate congression (GO:0007080)3.09309481
58establishment of protein localization to Golgi (GO:0072600)3.09003533
59kynurenine metabolic process (GO:0070189)3.08569112
60behavioral response to nicotine (GO:0035095)3.05899441
61genitalia morphogenesis (GO:0035112)3.04628976
62DNA replication-independent nucleosome assembly (GO:0006336)3.03131503
63DNA replication-independent nucleosome organization (GO:0034724)3.03131503
64detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.99114390
65epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.98394912
66RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.96339709
67CENP-A containing nucleosome assembly (GO:0034080)2.96204810
68reciprocal DNA recombination (GO:0035825)2.95680440
69reciprocal meiotic recombination (GO:0007131)2.95680440
70protein K11-linked deubiquitination (GO:0035871)2.91872883
71regulation of sister chromatid cohesion (GO:0007063)2.90160406
72double-strand break repair via homologous recombination (GO:0000724)2.89650177
73regulation of nuclear cell cycle DNA replication (GO:0033262)2.88926776
74microtubule anchoring (GO:0034453)2.88839042
75recombinational repair (GO:0000725)2.87705658
76protein K48-linked deubiquitination (GO:0071108)2.87605902
77kinetochore organization (GO:0051383)2.86819066
78metaphase plate congression (GO:0051310)2.86007051
79chromatin remodeling at centromere (GO:0031055)2.84971295
80Arp2/3 complex-mediated actin nucleation (GO:0034314)2.84090687
81regulation of DNA endoreduplication (GO:0032875)2.84050864
82tryptophan metabolic process (GO:0006568)2.83024597
83sister chromatid segregation (GO:0000819)2.78517775
84DNA duplex unwinding (GO:0032508)2.77964690
85cytoplasmic mRNA processing body assembly (GO:0033962)2.77786272
86regulation of centriole replication (GO:0046599)2.77407905
87centriole replication (GO:0007099)2.77012998
88DNA geometric change (GO:0032392)2.76996694
89replicative senescence (GO:0090399)2.76196339
90cellular response to sterol (GO:0036315)2.75859665
91folic acid-containing compound biosynthetic process (GO:0009396)2.75000149
92positive regulation of mitotic metaphase/anaphase transition (GO:0045842)2.74112305
93positive regulation of metaphase/anaphase transition of cell cycle (GO:1902101)2.74112305
94positive regulation of mitotic sister chromatid separation (GO:1901970)2.74112305
95endosome to melanosome transport (GO:0035646)2.72160408
96endosome to pigment granule transport (GO:0043485)2.72160408
97establishment of chromosome localization (GO:0051303)2.72094130
98maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.70294956
99UDP-N-acetylglucosamine metabolic process (GO:0006047)2.69865573
100heterochromatin organization (GO:0070828)2.69170577
101nucleotide-excision repair, DNA gap filling (GO:0006297)2.68407526
102somite rostral/caudal axis specification (GO:0032525)2.68219115
103nuclear envelope organization (GO:0006998)2.68186144
104anterior/posterior axis specification, embryo (GO:0008595)2.67791839
105spindle checkpoint (GO:0031577)2.67758871
106dosage compensation (GO:0007549)2.67560571
107* embryonic axis specification (GO:0000578)2.66311468
108regulation of spindle organization (GO:0090224)2.64587495
109* embryonic pattern specification (GO:0009880)2.63256417
110regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)2.62957553
111regulation of meiosis I (GO:0060631)2.62700354
112DNA double-strand break processing (GO:0000729)2.62369157
113meiotic chromosome segregation (GO:0045132)2.59371912
114regulation of mitotic metaphase/anaphase transition (GO:0030071)2.59167430
115spindle assembly checkpoint (GO:0071173)2.58577134
116ribosome assembly (GO:0042255)2.58276336
117regulation of RNA export from nucleus (GO:0046831)2.57316313
118sulfation (GO:0051923)2.56044456
119negative regulation of activin receptor signaling pathway (GO:0032926)2.55201863
120mitotic spindle assembly checkpoint (GO:0007094)2.54797771
121regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.54679223
122regulation of protein heterodimerization activity (GO:0043497)2.54502013
123histone mRNA catabolic process (GO:0071044)2.54157866
124* regulation of mesoderm development (GO:2000380)2.54015325
125alternative mRNA splicing, via spliceosome (GO:0000380)2.53792824
126regulation of centrosome duplication (GO:0010824)2.53531264
127chromosome segregation (GO:0007059)2.52776556
128mitotic spindle checkpoint (GO:0071174)2.52629609
129IMP biosynthetic process (GO:0006188)2.52474585
130regulation of chromosome segregation (GO:0051983)2.51893891
131mitotic sister chromatid segregation (GO:0000070)2.51597067
132chromatin assembly or disassembly (GO:0006333)2.51169882
133histone exchange (GO:0043486)2.50019406
134positive regulation of chromosome segregation (GO:0051984)2.49916252
135regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.49631530
136B cell mediated immunity (GO:0019724)2.49317853
137protein localization to chromosome (GO:0034502)2.49316094
138cornea development in camera-type eye (GO:0061303)2.49035360
139telomere maintenance via telomere lengthening (GO:0010833)2.48973807
140negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)2.48360805
141ribosomal small subunit assembly (GO:0000028)2.47801895
142microtubule organizing center organization (GO:0031023)2.47212935
143negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.46520851
144negative regulation of sister chromatid segregation (GO:0033046)2.46520851
145negative regulation of mitotic sister chromatid separation (GO:2000816)2.46520851
146negative regulation of mitotic sister chromatid segregation (GO:0033048)2.46520851
147negative regulation of sodium ion transport (GO:0010766)2.46142869
148centrosome organization (GO:0051297)2.46020614
149phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.45120425
150peristalsis (GO:0030432)2.43900844
151negative regulation of chromosome segregation (GO:0051985)2.43480939
152negative regulation of cell cycle G2/M phase transition (GO:1902750)2.43383376
153regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.43236039
154positive regulation of protein import into nucleus, translocation (GO:0033160)2.42822303
155positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)2.42568296
156limb bud formation (GO:0060174)2.41538124
157negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.41084541
158regulation of non-canonical Wnt signaling pathway (GO:2000050)2.40582161
159DNA conformation change (GO:0071103)2.40399662
160pre-miRNA processing (GO:0031054)2.39699641
161nucleobase biosynthetic process (GO:0046112)2.39594649
162maturation of SSU-rRNA (GO:0030490)2.39436564
163ATP-dependent chromatin remodeling (GO:0043044)2.39251468
164nucleus localization (GO:0051647)2.39146794
165photoreceptor cell maintenance (GO:0045494)2.38539930
166histone H2A monoubiquitination (GO:0035518)2.38056976
167negative regulation of systemic arterial blood pressure (GO:0003085)2.37325675
168purine nucleobase biosynthetic process (GO:0009113)2.36898300
169sympathetic nervous system development (GO:0048485)2.36364968
170protein K63-linked deubiquitination (GO:0070536)2.35983848
171positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.35942991
172regulation of sister chromatid segregation (GO:0033045)2.35793445
173regulation of mitotic sister chromatid separation (GO:0010965)2.35793445
174regulation of mitotic sister chromatid segregation (GO:0033047)2.35793445
175indole-containing compound metabolic process (GO:0042430)2.34638373
176cilium organization (GO:0044782)2.34514432
177spinal cord motor neuron differentiation (GO:0021522)2.34506452
178detection of light stimulus involved in visual perception (GO:0050908)2.34322480
179detection of light stimulus involved in sensory perception (GO:0050962)2.34322480
180centrosome duplication (GO:0051298)2.33945360
181cyclic nucleotide catabolic process (GO:0009214)2.33727566
182behavioral response to ethanol (GO:0048149)2.33083010
183resolution of meiotic recombination intermediates (GO:0000712)2.33015979
184regulation of telomere maintenance (GO:0032204)2.32657092
185kinetochore assembly (GO:0051382)2.31976349
186synapsis (GO:0007129)2.31508918
187sister chromatid cohesion (GO:0007062)2.31329804
188rRNA catabolic process (GO:0016075)2.31235022
189cardiovascular system development (GO:0072358)2.31145842
190cilium assembly (GO:0042384)2.30764662
191negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.29856394
192negative regulation of DNA repair (GO:0045738)2.28385783
193histone-serine phosphorylation (GO:0035404)2.28108497
194DNA synthesis involved in DNA repair (GO:0000731)2.27898710
195telomere maintenance (GO:0000723)2.27234253

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human9.76870070
2EGR1_19374776_ChIP-ChIP_THP-1_Human4.03087910
3FOXM1_23109430_ChIP-Seq_U2OS_Human3.94900403
4E2F4_17652178_ChIP-ChIP_JURKAT_Human3.58486228
5CEBPD_23245923_ChIP-Seq_MEFs_Mouse3.11207234
6GBX2_23144817_ChIP-Seq_PC3_Human3.04695506
7MYC_18555785_ChIP-Seq_MESCs_Mouse2.95063849
8ZNF274_21170338_ChIP-Seq_K562_Hela2.91087366
9FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.88841945
10* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.75054339
11GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.70350988
12VDR_22108803_ChIP-Seq_LS180_Human2.67650907
13* ZFP57_27257070_Chip-Seq_ESCs_Mouse2.63148110
14* EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.60583498
15EWS_26573619_Chip-Seq_HEK293_Human2.42793170
16GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.36100862
17AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.35981350
18TAF15_26573619_Chip-Seq_HEK293_Human2.34947915
19FUS_26573619_Chip-Seq_HEK293_Human2.33382163
20P300_19829295_ChIP-Seq_ESCs_Human2.32180917
21NELFA_20434984_ChIP-Seq_ESCs_Mouse2.31216070
22E2F1_21310950_ChIP-Seq_MCF-7_Human2.24689745
23AR_21909140_ChIP-Seq_LNCAP_Human2.24398649
24IRF8_21731497_ChIP-ChIP_J774_Mouse2.22421507
25* NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.19312378
26SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.18673169
27FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.15330866
28FLI1_27457419_Chip-Seq_LIVER_Mouse2.15273678
29BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.14289988
30PIAS1_25552417_ChIP-Seq_VCAP_Human2.11089076
31* KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.10145542
32CTBP2_25329375_ChIP-Seq_LNCAP_Human2.09381401
33MYC_19079543_ChIP-ChIP_MESCs_Mouse2.06317732
34ASXL1_24218140_ChIP-Seq_BMDM_Mouse2.04032169
35* MYC_22102868_ChIP-Seq_BL_Human1.96840279
36* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.94843110
37MYC_19030024_ChIP-ChIP_MESCs_Mouse1.93850848
38ELK1_19687146_ChIP-ChIP_HELA_Human1.93570328
39EST1_17652178_ChIP-ChIP_JURKAT_Human1.92001141
40CREB1_15753290_ChIP-ChIP_HEK293T_Human1.91091341
41STAT3_23295773_ChIP-Seq_U87_Human1.89525911
42IGF1R_20145208_ChIP-Seq_DFB_Human1.83392806
43KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.82198438
44SMAD4_21799915_ChIP-Seq_A2780_Human1.81707417
45IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.81196688
46ER_23166858_ChIP-Seq_MCF-7_Human1.79774999
47RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.79238499
48ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.78725506
49PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.78159545
50FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.76428624
51CTBP1_25329375_ChIP-Seq_LNCAP_Human1.76396389
52SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.75678267
53MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.74410748
54PCGF2_27294783_Chip-Seq_ESCs_Mouse1.74146522
55GABP_17652178_ChIP-ChIP_JURKAT_Human1.74010199
56UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.73529043
57SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.73108524
58PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.72907410
59* SMAD3_21741376_ChIP-Seq_EPCs_Human1.72562768
60* MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.72163992
61IRF8_22096565_ChIP-ChIP_GC-B_Human1.71364453
62VDR_23849224_ChIP-Seq_CD4+_Human1.69113323
63HOXB4_20404135_ChIP-ChIP_EML_Mouse1.68508813
64BCAT_22108803_ChIP-Seq_LS180_Human1.67366087
65XRN2_22483619_ChIP-Seq_HELA_Human1.67093313
66TCF4_23295773_ChIP-Seq_U87_Human1.67070781
67MYC_18358816_ChIP-ChIP_MESCs_Mouse1.64729584
68RBPJ_22232070_ChIP-Seq_NCS_Mouse1.64328429
69TP63_19390658_ChIP-ChIP_HaCaT_Human1.62300913
70MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.61113544
71TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.58766112
72POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.58766112
73TP53_16413492_ChIP-PET_HCT116_Human1.58131642
74* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.58111365
75AR_25329375_ChIP-Seq_VCAP_Human1.57958617
76NR3C1_21868756_ChIP-Seq_MCF10A_Human1.56450591
77SMAD_19615063_ChIP-ChIP_OVARY_Human1.56120787
78ETS1_20019798_ChIP-Seq_JURKAT_Human1.56081145
79TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.55704422
80PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.53689243
81SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.52787183
82TFEB_21752829_ChIP-Seq_HELA_Human1.51975207
83MYCN_18555785_ChIP-Seq_MESCs_Mouse1.51933454
84AR_21572438_ChIP-Seq_LNCaP_Human1.51896053
85PCGF2_27294783_Chip-Seq_NPCs_Mouse1.51870881
86* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.51541125
87MYB_21317192_ChIP-Seq_ERMYB_Mouse1.48668982
88CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.47375999
89E2F1_18555785_ChIP-Seq_MESCs_Mouse1.47113811
90* SPI1_23547873_ChIP-Seq_NB4_Human1.46472566
91FOXP3_21729870_ChIP-Seq_TREG_Human1.46359198
92* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.46357454
93CBP_20019798_ChIP-Seq_JUKART_Human1.46279319
94IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.46279319
95SALL1_21062744_ChIP-ChIP_HESCs_Human1.44834152
96* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.44220422
97MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.43899222
98ZNF217_24962896_ChIP-Seq_MCF-7_Human1.42617815
99ZFX_18555785_ChIP-Seq_MESCs_Mouse1.41979769
100EZH2_27294783_Chip-Seq_NPCs_Mouse1.41923712
101TOP2B_26459242_ChIP-Seq_MCF-7_Human1.41682972
102SUZ12_27294783_Chip-Seq_NPCs_Mouse1.39781943
103CIITA_25753668_ChIP-Seq_RAJI_Human1.38593767
104DCP1A_22483619_ChIP-Seq_HELA_Human1.38366085
105TCF4_22108803_ChIP-Seq_LS180_Human1.38019457
106FOXM1_26456572_ChIP-Seq_MCF-7_Human1.37575161
107TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.36545801
108CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.34655044
109VDR_21846776_ChIP-Seq_THP-1_Human1.33896340
110STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.33555464
111POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.33546540
112STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.33135034
113* MYB_26560356_Chip-Seq_TH2_Human1.32313875
114* SMAD4_21741376_ChIP-Seq_EPCs_Human1.32187465
115ARNT_22903824_ChIP-Seq_MCF-7_Human1.31862856
116TP63_17297297_ChIP-ChIP_HaCaT_Human1.31657711
117TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.31485773
118GABP_19822575_ChIP-Seq_HepG2_Human1.31003849
119PADI4_21655091_ChIP-ChIP_MCF-7_Human1.30303160
120EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.30056693
121RUNX2_22187159_ChIP-Seq_PCA_Human1.29809668
122ELF1_17652178_ChIP-ChIP_JURKAT_Human1.29261147
123FLI1_21867929_ChIP-Seq_TH2_Mouse1.28917575
124KDM5A_27292631_Chip-Seq_BREAST_Human1.28129473
125HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.28098321
126NFE2_27457419_Chip-Seq_LIVER_Mouse1.27665355
127CDX2_19796622_ChIP-Seq_MESCs_Mouse1.27200092
128AHR_22903824_ChIP-Seq_MCF-7_Human1.27194633
129FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.26760446
130NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.26293518
131ERG_20887958_ChIP-Seq_HPC-7_Mouse1.24583098
132JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.24089436
133NANOG_18555785_Chip-Seq_ESCs_Mouse1.24007205
134NRF2_20460467_ChIP-Seq_MEFs_Mouse1.23469338
135NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.23469338
136HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.23021929
137MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.22004582
138NOTCH1_21737748_ChIP-Seq_TLL_Human1.21416976
139PRDM14_20953172_ChIP-Seq_ESCs_Human1.21187093
140* SMAD3_21741376_ChIP-Seq_HESCs_Human1.20568458
141YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.19816607
142BP1_19119308_ChIP-ChIP_Hs578T_Human1.19035110
143EZH2_22144423_ChIP-Seq_EOC_Human1.17696382
144KLF5_20875108_ChIP-Seq_MESCs_Mouse1.16370857
145TTF2_22483619_ChIP-Seq_HELA_Human1.16103787
146CRX_20693478_ChIP-Seq_RETINA_Mouse1.15059653
147MAF_26560356_Chip-Seq_TH1_Human1.14920007
148MYB_26560356_Chip-Seq_TH1_Human1.13384670
149* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.13304795
150IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.13162685
151KDM2B_26808549_Chip-Seq_REH_Human1.12816602
152PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.12805147
153NANOG_19829295_ChIP-Seq_ESCs_Human1.12373597
154SOX2_19829295_ChIP-Seq_ESCs_Human1.12373597
155EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.12367170
156IRF1_19129219_ChIP-ChIP_H3396_Human1.12168090
157FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.12080436
158* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.11978649
159TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.11875766
160SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.11780433
161CDX2_22108803_ChIP-Seq_LS180_Human1.11065823
162* UTX_26944678_Chip-Seq_JUKART_Human1.10393028
163STAT4_19710469_ChIP-ChIP_TH1__Mouse1.10386975
164NANOG_18555785_ChIP-Seq_MESCs_Mouse1.09684423
165E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.08425323
166SOX2_21211035_ChIP-Seq_LN229_Gbm1.07828722
167* STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.07812765
168TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.07672711
169* CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.07613860
170OCT4_21477851_ChIP-Seq_ESCs_Mouse1.07582649
171E2F1_18555785_Chip-Seq_ESCs_Mouse1.07346140
172POU5F1_16153702_ChIP-ChIP_HESCs_Human1.07291102
173* SMAD4_21741376_ChIP-Seq_HESCs_Human1.07180854
174P53_22387025_ChIP-Seq_ESCs_Mouse1.07084507
175GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.06897011
176CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.02942092
177* TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.02743172
178IRF8_27001747_Chip-Seq_BMDM_Mouse1.01875830
179* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.00613993
180RNF2_27304074_Chip-Seq_NSC_Mouse1.00126261
181KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.99278893
182CJUN_26792858_Chip-Seq_BT549_Human0.98966343
183NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.96203230
184CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat0.95199544
185* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.94858125
186BRD4_27068464_Chip-Seq_AML-cells_Mouse0.93806517
187* TCF7_22412390_ChIP-Seq_EML_Mouse0.92898584
188DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.92169244
189* SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.92050168
190* RUNX1_22412390_ChIP-Seq_EML_Mouse0.92003796
191CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.88748707
192CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse0.85169513
193THAP11_20581084_ChIP-Seq_MESCs_Mouse0.84530779
194MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.83757900
195ELK1_22589737_ChIP-Seq_MCF10A_Human0.83513611

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003136_yellow_coat_color3.45184007
2MP0003195_calcinosis3.25338718
3MP0003693_abnormal_embryo_hatching3.17181336
4* MP0003890_abnormal_embryonic-extraembry3.10681164
5MP0010094_abnormal_chromosome_stability3.00432458
6MP0010352_gastrointestinal_tract_polyps2.84446474
7MP0003646_muscle_fatigue2.80755484
8MP0003077_abnormal_cell_cycle2.75910837
9MP0008057_abnormal_DNA_replication2.63507708
10MP0005171_absent_coat_pigmentation2.46348084
11MP0005174_abnormal_tail_pigmentation2.45094349
12MP0004957_abnormal_blastocyst_morpholog2.44055025
13MP0006054_spinal_hemorrhage2.39677929
14MP0003111_abnormal_nucleus_morphology2.36661709
15MP0000383_abnormal_hair_follicle2.35772855
16MP0002102_abnormal_ear_morphology2.30375590
17MP0000372_irregular_coat_pigmentation2.29443634
18MP0008007_abnormal_cellular_replicative2.25906259
19MP0000427_abnormal_hair_cycle2.23689122
20MP0010307_abnormal_tumor_latency2.11966129
21MP0002938_white_spotting2.11094880
22MP0002396_abnormal_hematopoietic_system2.09691530
23MP0002837_dystrophic_cardiac_calcinosis2.02531508
24MP0004808_abnormal_hematopoietic_stem1.99241753
25MP0004043_abnormal_pH_regulation1.96788886
26MP0004147_increased_porphyrin_level1.96099661
27MP0005551_abnormal_eye_electrophysiolog1.91432810
28MP0001835_abnormal_antigen_presentation1.88341610
29MP0003937_abnormal_limbs/digits/tail_de1.87385149
30MP0000569_abnormal_digit_pigmentation1.86017096
31MP0002638_abnormal_pupillary_reflex1.85826182
32MP0008877_abnormal_DNA_methylation1.84189972
33MP0003123_paternal_imprinting1.83798791
34* MP0000350_abnormal_cell_proliferation1.79895388
35MP0008438_abnormal_cutaneous_collagen1.78256207
36MP0010678_abnormal_skin_adnexa1.74396365
37MP0003121_genomic_imprinting1.73244940
38MP0003436_decreased_susceptibility_to1.70257803
39MP0009785_altered_susceptibility_to1.66777263
40MP0003763_abnormal_thymus_physiology1.64594126
41* MP0001730_embryonic_growth_arrest1.63496137
42* MP0005076_abnormal_cell_differentiation1.61969093
43MP0008058_abnormal_DNA_repair1.61711136
44MP0008932_abnormal_embryonic_tissue1.60475804
45MP0005253_abnormal_eye_physiology1.57217334
46MP0005397_hematopoietic_system_phenotyp1.56744442
47MP0001545_abnormal_hematopoietic_system1.56744442
48MP0002006_tumorigenesis1.50118157
49MP0002166_altered_tumor_susceptibility1.50034184
50MP0005671_abnormal_response_to1.49865270
51MP0002452_abnormal_antigen_presenting1.48728683
52MP0003705_abnormal_hypodermis_morpholog1.47709098
53MP0002398_abnormal_bone_marrow1.47132614
54MP0001800_abnormal_humoral_immune1.43959955
55MP0003566_abnormal_cell_adhesion1.42162690
56MP0000685_abnormal_immune_system1.40987319
57MP0005000_abnormal_immune_tolerance1.36715603
58MP0001485_abnormal_pinna_reflex1.36004046
59MP0003567_abnormal_fetal_cardiomyocyte1.34516204
60MP0002735_abnormal_chemical_nociception1.32441501
61MP0001819_abnormal_immune_cell1.32373419
62MP0002420_abnormal_adaptive_immunity1.31462003
63MP0005023_abnormal_wound_healing1.31036171
64MP0004133_heterotaxia1.30941429
65MP0000015_abnormal_ear_pigmentation1.29325316
66MP0000490_abnormal_crypts_of1.28443481
67MP0003718_maternal_effect1.27344661
68MP0005075_abnormal_melanosome_morpholog1.26246378
69MP0002877_abnormal_melanocyte_morpholog1.26098666
70MP0009046_muscle_twitch1.26061859
71MP0001324_abnormal_eye_pigmentation1.25956347
72MP0002019_abnormal_tumor_incidence1.25897894
73MP0004215_abnormal_myocardial_fiber1.25584353
74* MP0001697_abnormal_embryo_size1.25210245
75MP0010030_abnormal_orbit_morphology1.24773208
76MP0008872_abnormal_physiological_respon1.22810511
77* MP0003984_embryonic_growth_retardation1.22707908
78MP0003950_abnormal_plasma_membrane1.22529208
79* MP0002088_abnormal_embryonic_growth/wei1.22097273
80MP0009333_abnormal_splenocyte_physiolog1.20974501
81MP0002723_abnormal_immune_serum1.20434364
82MP0004381_abnormal_hair_follicle1.20106754
83MP0000858_altered_metastatic_potential1.19804824
84* MP0001672_abnormal_embryogenesis/_devel1.18989603
85* MP0005380_embryogenesis_phenotype1.18989603
86MP0000689_abnormal_spleen_morphology1.18919817
87MP0002419_abnormal_innate_immunity1.16970031
88MP0001348_abnormal_lacrimal_gland1.16536047
89MP0000716_abnormal_immune_system1.16358662
90MP0004272_abnormal_basement_membrane1.15813989
91* MP0004197_abnormal_fetal_growth/weight/1.15531572
92MP0002722_abnormal_immune_system1.15200713
93* MP0002086_abnormal_extraembryonic_tissu1.15162203
94MP0000703_abnormal_thymus_morphology1.15093639
95MP0006072_abnormal_retinal_apoptosis1.14890511
96MP0002095_abnormal_skin_pigmentation1.14410408
97MP0002148_abnormal_hypersensitivity_rea1.13029884
98MP0003448_altered_tumor_morphology1.12881209
99MP0002405_respiratory_system_inflammati1.11473053
100* MP0002429_abnormal_blood_cell1.10577973
101* MP0003119_abnormal_digestive_system1.10398513
102MP0001984_abnormal_olfaction1.09783657
103MP0005025_abnormal_response_to1.09607712
104MP0001915_intracranial_hemorrhage1.09564912
105MP0000516_abnormal_urinary_system1.09114722
106MP0005367_renal/urinary_system_phenotyp1.09114722
107* MP0002080_prenatal_lethality1.06738983
108MP0005187_abnormal_penis_morphology1.06684411
109MP0002751_abnormal_autonomic_nervous1.04865532
110MP0000538_abnormal_urinary_bladder1.04672481
111MP0002009_preneoplasia1.04420997
112MP0004947_skin_inflammation1.04224850
113MP0002736_abnormal_nociception_after1.03445729
114MP0004130_abnormal_muscle_cell1.03408460
115MP0003786_premature_aging1.02634661
116MP0002928_abnormal_bile_duct1.01315199
117MP0000647_abnormal_sebaceous_gland1.00948700
118MP0001293_anophthalmia1.00397355
119* MP0000313_abnormal_cell_death1.00278149
120MP0002168_other_aberrant_phenotype1.00233010
121MP0003300_gastrointestinal_ulcer1.00136021
122MP0000631_abnormal_neuroendocrine_gland0.98962128
123MP0004924_abnormal_behavior0.98727664
124MP0005386_behavior/neurological_phenoty0.98727664
125* MP0002084_abnormal_developmental_patter0.97420626
126MP0000733_abnormal_muscle_development0.95881228
127* MP0002085_abnormal_embryonic_tissue0.95808291
128MP0001486_abnormal_startle_reflex0.95679148
129MP0003137_abnormal_impulse_conducting0.95478543
130MP0001986_abnormal_taste_sensitivity0.95397618
131MP0003941_abnormal_skin_development0.94795882
132MP0005395_other_phenotype0.94141618
133MP0005275_abnormal_skin_tensile0.93566883
134MP0005503_abnormal_tendon_morphology0.93033749
135MP0003787_abnormal_imprinting0.93018518
136MP0003724_increased_susceptibility_to0.91865422
137MP0009278_abnormal_bone_marrow0.91713637
138MP0001533_abnormal_skeleton_physiology0.91371964
139MP0002163_abnormal_gland_morphology0.91116173
140MP0005195_abnormal_posterior_eye0.89766339
141MP0001968_abnormal_touch/_nociception0.89000076
142MP0000371_diluted_coat_color0.88664636
143MP0005387_immune_system_phenotype0.88524258
144MP0001790_abnormal_immune_system0.88524258
145MP0010234_abnormal_vibrissa_follicle0.88157026
146MP0002160_abnormal_reproductive_system0.87562539
147MP0000537_abnormal_urethra_morphology0.87544266
148MP0010386_abnormal_urinary_bladder0.86897684
149MP0006292_abnormal_olfactory_placode0.86819051
150MP0005646_abnormal_pituitary_gland0.86604539
151MP0005167_abnormal_blood-brain_barrier0.85441657
152MP0003045_fibrosis0.84736134
153MP0009053_abnormal_anal_canal0.84128251
154MP0003315_abnormal_perineum_morphology0.83293673
155MP0004085_abnormal_heartbeat0.81779107
156MP0003303_peritoneal_inflammation0.81729707
157* MP0003091_abnormal_cell_migration0.80598741
158MP0001853_heart_inflammation0.79600311
159MP0003828_pulmonary_edema0.78927905
160MP0005257_abnormal_intraocular_pressure0.78809479
161MP0001879_abnormal_lymphatic_vessel0.78718943
162MP0002109_abnormal_limb_morphology0.78677808
163MP0001119_abnormal_female_reproductive0.78203204
164MP0002233_abnormal_nose_morphology0.78061961
165MP0001929_abnormal_gametogenesis0.78036511
166MP0005266_abnormal_metabolism0.77653748
167MP0001501_abnormal_sleep_pattern0.77469820
168MP0005220_abnormal_exocrine_pancreas0.77353783
169MP0009745_abnormal_behavioral_response0.76955062
170* MP0005621_abnormal_cell_physiology0.76517172
171MP0003755_abnormal_palate_morphology0.75089006
172MP0001845_abnormal_inflammatory_respons0.74970182
173MP0004142_abnormal_muscle_tone0.74139502
174MP0009697_abnormal_copulation0.73590208
175MP0005408_hypopigmentation0.73003142
176MP0005645_abnormal_hypothalamus_physiol0.72971941
177MP0000778_abnormal_nervous_system0.72868671
178MP0004885_abnormal_endolymph0.72354919
179MP0002234_abnormal_pharynx_morphology0.72183750
180MP0002067_abnormal_sensory_capabilities0.71334349
181MP0003252_abnormal_bile_duct0.70881032
182* MP0001286_abnormal_eye_development0.70549861
183MP0002557_abnormal_social/conspecific_i0.70532816
184MP0000230_abnormal_systemic_arterial0.70018696
185MP0008775_abnormal_heart_ventricle0.69858096
186MP0002210_abnormal_sex_determination0.69385472
187* MP0005391_vision/eye_phenotype0.69268452
188MP0003698_abnormal_male_reproductive0.68842780

Predicted human phenotypes

RankGene SetZ-score
1Hyperventilation (HP:0002883)3.87596614
2Pancreatic cysts (HP:0001737)3.85710847
3Birth length less than 3rd percentile (HP:0003561)3.67171012
4Genetic anticipation (HP:0003743)3.55410834
5Pancreatic fibrosis (HP:0100732)3.25320889
6Molar tooth sign on MRI (HP:0002419)3.22039963
7Abnormality of midbrain morphology (HP:0002418)3.22039963
8Protruding tongue (HP:0010808)3.13701035
9True hermaphroditism (HP:0010459)2.99539550
10Recurrent abscess formation (HP:0002722)2.99372765
11Agnosia (HP:0010524)2.94618656
12Gaze-evoked nystagmus (HP:0000640)2.91589187
13Nephronophthisis (HP:0000090)2.90922374
14Short 4th metacarpal (HP:0010044)2.90505775
15Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.90505775
16Abnormality of the renal cortex (HP:0011035)2.84235534
17Fair hair (HP:0002286)2.83050202
18Colon cancer (HP:0003003)2.83034241
19Congenital stationary night blindness (HP:0007642)2.82294187
20Abnormality of the renal medulla (HP:0100957)2.80079430
21Chronic hepatic failure (HP:0100626)2.76711030
22Thrombocytosis (HP:0001894)2.76701252
23Aplasia/Hypoplasia of the tibia (HP:0005772)2.71662207
24Disinhibition (HP:0000734)2.66001475
25Progressive inability to walk (HP:0002505)2.65599337
26Intestinal atresia (HP:0011100)2.65395371
27Chromsome breakage (HP:0040012)2.64532459
28Eczematoid dermatitis (HP:0000976)2.63041481
29Volvulus (HP:0002580)2.62654383
30Tubular atrophy (HP:0000092)2.60990881
31Hypoplastic labia majora (HP:0000059)2.59495642
32Recurrent bacterial skin infections (HP:0005406)2.58363363
33Abnormality of the labia majora (HP:0012881)2.51740593
34Progressive cerebellar ataxia (HP:0002073)2.49059779
35Abnormality of the ischium (HP:0003174)2.46658309
36Wrist flexion contracture (HP:0001239)2.44484829
37Selective tooth agenesis (HP:0001592)2.40904898
38Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.39641983
39Abnormality of alanine metabolism (HP:0010916)2.39641983
40Hyperalaninemia (HP:0003348)2.39641983
41Autoimmune thrombocytopenia (HP:0001973)2.35751911
42Deviation of the thumb (HP:0009603)2.34699669
43Chorioretinal atrophy (HP:0000533)2.32562510
44Small hand (HP:0200055)2.32438836
45Clubbing of toes (HP:0100760)2.28820640
46Hematochezia (HP:0002573)2.27073571
47Cystic liver disease (HP:0006706)2.26072506
48Abnormality of chromosome stability (HP:0003220)2.25834361
49Patellar aplasia (HP:0006443)2.22672042
50IgM deficiency (HP:0002850)2.21146242
51Proximal placement of thumb (HP:0009623)2.20726885
52Cellulitis (HP:0100658)2.20110657
53Generalized hypopigmentation of hair (HP:0011358)2.19258004
54Shallow orbits (HP:0000586)2.19087067
55Degeneration of anterior horn cells (HP:0002398)2.18907057
56Abnormality of the anterior horn cell (HP:0006802)2.18907057
57Attenuation of retinal blood vessels (HP:0007843)2.18347894
58Neoplasm of the adrenal cortex (HP:0100641)2.16954388
59Abnormality of the fingertips (HP:0001211)2.16665350
60Inability to walk (HP:0002540)2.14858171
61Oligodactyly (hands) (HP:0001180)2.13945846
62Broad-based gait (HP:0002136)2.13089534
63Absent radius (HP:0003974)2.12096687
64Spinal cord lesions (HP:0100561)2.12044941
65Syringomyelia (HP:0003396)2.12044941
66Aqueductal stenosis (HP:0002410)2.11380705
67Chromosomal breakage induced by crosslinking agents (HP:0003221)2.11035256
68Myositis (HP:0100614)2.10513291
69Mediastinal lymphadenopathy (HP:0100721)2.09513777
70Hypoplastic ischia (HP:0003175)2.09333005
71Aplasia/Hypoplasia of the tongue (HP:0010295)2.08507855
72Cortical dysplasia (HP:0002539)2.08488752
73Acute myeloid leukemia (HP:0004808)2.07118227
74Interstitial pulmonary disease (HP:0006530)2.06956563
75Abnormality of the 4th metacarpal (HP:0010012)2.05649076
76Myelodysplasia (HP:0002863)2.05164434
77Abnormality of the nasal septum (HP:0000419)2.05068959
78Preaxial foot polydactyly (HP:0001841)2.04903582
79Widely spaced teeth (HP:0000687)2.04442864
80Prostate neoplasm (HP:0100787)2.03477351
81Cervical subluxation (HP:0003308)2.03313576
82Glioma (HP:0009733)2.02808083
83Absent forearm bone (HP:0003953)2.02749986
84Aplasia involving forearm bones (HP:0009822)2.02749986
85IgA deficiency (HP:0002720)2.01510448
86Sloping forehead (HP:0000340)2.00916526
87Medial flaring of the eyebrow (HP:0010747)2.00643817
88Cupped ear (HP:0000378)1.99810022
89Aplasia/Hypoplasia of the patella (HP:0006498)1.99733572
90Cutaneous melanoma (HP:0012056)1.97883374
91Bifid tongue (HP:0010297)1.97745967
92Deep philtrum (HP:0002002)1.96199788
93Furrowed tongue (HP:0000221)1.95259241
94High pitched voice (HP:0001620)1.94834915
95Abnormal pancreas size (HP:0012094)1.94549066
96Increased density of long bones (HP:0006392)1.94393582
97Ankle contracture (HP:0006466)1.93752753
98Elevated erythrocyte sedimentation rate (HP:0003565)1.93676427
99Genital tract atresia (HP:0001827)1.93625040
100Labial hypoplasia (HP:0000066)1.93031644
101Abnormality of cells of the lymphoid lineage (HP:0012140)1.92855738
102Medulloblastoma (HP:0002885)1.92445166
103Broad palm (HP:0001169)1.92433989
104Bicuspid aortic valve (HP:0001647)1.91595020
105Cerebellar dysplasia (HP:0007033)1.91589446
106Amaurosis fugax (HP:0100576)1.91312623
10711 pairs of ribs (HP:0000878)1.90235586
108Osteomyelitis (HP:0002754)1.90105125
109Protrusio acetabuli (HP:0003179)1.89764932
110Aplastic anemia (HP:0001915)1.89763819
111Aplasia/Hypoplasia of the sternum (HP:0006714)1.89759154
112Cutis marmorata (HP:0000965)1.89725517
113Congenital hepatic fibrosis (HP:0002612)1.89705342
114Increased nuchal translucency (HP:0010880)1.88984335
115Clumsiness (HP:0002312)1.88561092
116Blue irides (HP:0000635)1.87946016
117Vaginal atresia (HP:0000148)1.87285593
118Abnormality of T cell number (HP:0011839)1.87151619
119Congenital sensorineural hearing impairment (HP:0008527)1.86672318
120Ectopic kidney (HP:0000086)1.86594119
121Large for gestational age (HP:0001520)1.86380893
122Anencephaly (HP:0002323)1.85706161
123Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.85671913
124Lymphopenia (HP:0001888)1.83449861
125IgG deficiency (HP:0004315)1.83186733
126Dandy-Walker malformation (HP:0001305)1.82668511
127Duplicated collecting system (HP:0000081)1.82575847
128Febrile seizures (HP:0002373)1.82269249
129Leukocytosis (HP:0001974)1.82003094
130Subacute progressive viral hepatitis (HP:0006572)1.81753105
131Recurrent viral infections (HP:0004429)1.81476119
132Disproportionate short-trunk short stature (HP:0003521)1.81050759
133Decreased circulating renin level (HP:0003351)1.80862601
134Reticulocytopenia (HP:0001896)1.80691157
135Lymphoma (HP:0002665)1.79275544
136Absent speech (HP:0001344)1.78967545
137Short hallux (HP:0010109)1.78490756
138Highly arched eyebrow (HP:0002553)1.76817067
139Aseptic necrosis (HP:0010885)1.76787871
140Spinal muscular atrophy (HP:0007269)1.76614992
141Preaxial hand polydactyly (HP:0001177)1.76576243
142Blepharitis (HP:0000498)1.74860542
143Anophthalmia (HP:0000528)1.74807395
144Abolished electroretinogram (ERG) (HP:0000550)1.74292195
145Microtia (HP:0008551)1.74117213
146Stomach cancer (HP:0012126)1.74001165
147Hypoplastic female external genitalia (HP:0012815)1.73420811
148Abnormality of the renal collecting system (HP:0004742)1.73384082
149Eosinophilia (HP:0001880)1.73380783
150Increased number of teeth (HP:0011069)1.72708432
151Polydipsia (HP:0001959)1.72292187
152Abnormal drinking behavior (HP:0030082)1.72292187
153Renal cortical cysts (HP:0000803)1.72051146
154Hypoplastic iliac wings (HP:0002866)1.71791726
155Astigmatism (HP:0000483)1.71276558
156Recurrent fungal infections (HP:0002841)1.71175983
157Enlarged kidneys (HP:0000105)1.70171064
158Astrocytoma (HP:0009592)1.69289038
159Abnormality of the astrocytes (HP:0100707)1.69289038
160Breast hypoplasia (HP:0003187)1.68587994
161Pelvic girdle muscle weakness (HP:0003749)1.67054588
162Meckel diverticulum (HP:0002245)1.66892181
163Dilatation of the ascending aorta (HP:0005111)1.66875601
164Atresia of the external auditory canal (HP:0000413)1.65952018
165Thyroiditis (HP:0100646)1.65021707
166Rhabdomyosarcoma (HP:0002859)1.63915108
167Rectal prolapse (HP:0002035)1.63112543
168Recurrent bronchitis (HP:0002837)1.63001078
169Trigonocephaly (HP:0000243)1.60223634
170Abnormality of eosinophils (HP:0001879)1.59344331
171T lymphocytopenia (HP:0005403)1.58950077
172Osteolytic defects of the hand bones (HP:0009699)1.58925270
173Osteolytic defects of the phalanges of the hand (HP:0009771)1.58925270
174Glossoptosis (HP:0000162)1.58887045
175Abnormality of the prostate (HP:0008775)1.58367160
176Delayed closure of the anterior fontanelle (HP:0001476)1.57718906
177Orchitis (HP:0100796)1.57184163
178Arterial thrombosis (HP:0004420)1.55768895
179Aplasia/Hypoplasia of the uvula (HP:0010293)1.55641295
180Abnormality of the ileum (HP:0001549)1.55152964
181Combined immunodeficiency (HP:0005387)1.54853211
182Long eyelashes (HP:0000527)1.53246262
183Aortic aneurysm (HP:0004942)1.52843494
184Poikiloderma (HP:0001029)1.51553269
185Neoplasm of the pancreas (HP:0002894)1.51495054
186Optic neuritis (HP:0100653)1.51130280
187Retrobulbar optic neuritis (HP:0100654)1.51130280

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDC74.11101157
2MKNK23.15179905
3TNIK2.87448514
4WEE12.69984351
5* ACVR1B2.64456585
6WNK32.55040594
7ZAK2.54609018
8BRSK22.39258489
9BUB12.30876280
10EIF2AK12.21612123
11AKT32.17895446
12NEK22.15178647
13STK102.11881329
14CASK2.10507454
15TRIM282.05751999
16STK38L1.92291070
17SRPK11.87236433
18FLT31.86649156
19RPS6KA41.84139539
20MAP4K11.83174729
21ADRBK21.82790741
22SCYL21.82014906
23STK391.79576019
24NLK1.77887302
25PLK41.73710644
26INSRR1.67583409
27LRRK21.60437924
28RPS6KB21.58441612
29WNK41.56892302
30STK31.54962842
31BRSK11.54917863
32JAK31.54098257
33GRK11.51419035
34ATR1.51007024
35PNCK1.48238133
36TSSK61.47502814
37EEF2K1.44077680
38OXSR11.42144221
39LATS11.40303425
40MAP3K101.39500900
41TESK11.35102721
42MAPK131.34228429
43CDK121.30930833
44FGFR21.30884634
45AURKB1.30767227
46KIT1.30298289
47CSF1R1.29963417
48MAP3K41.26732304
49PLK11.23119620
50STK41.21736395
51ERBB31.21450672
52CAMK1G1.21358501
53PASK1.20831147
54TYK21.18618097
55KDR1.17638525
56NEK91.16150702
57PLK31.14185834
58PAK41.13857336
59TXK1.13778965
60NEK11.13228698
61BCR1.12977877
62MAP3K81.12852451
63CCNB11.11999928
64CDK41.11862016
65ZAP701.11738226
66CAMK1D1.10948735
67PKN21.10381687
68DAPK21.08850692
69* TGFBR11.05770669
70CDK71.03625902
71NME21.03613057
72EIF2AK31.03506202
73PLK21.02736373
74TEC1.01318295
75CHEK10.98386854
76TBK10.97061734
77DYRK30.96777845
78PIM10.95879163
79CAMKK20.94687849
80CDK60.92957415
81CHEK20.92699438
82TTK0.91151169
83MAP3K60.91146527
84MAP4K20.90784480
85SGK20.90007673
86ITK0.89085953
87ERBB40.82310136
88BRD40.82286595
89PBK0.80738914
90* ADRBK10.79506498
91CHUK0.78965504
92PINK10.78769441
93PIM20.78577295
94PAK30.78207713
95TRPM70.77624041
96PRKAA20.76015974
97PDK20.75666110
98IRAK40.75357915
99FGFR30.75145342
100FER0.73935876
101ATM0.73899748
102MAP2K30.73364913
103MKNK10.72645296
104SIK30.71847206
105EPHA20.71366399
106TESK20.67191485
107PRKCE0.65860565
108PTK2B0.65685250
109VRK10.64629218
110WNK10.63442894
111TTN0.63125600
112LIMK10.62916223
113CSNK1G10.61594304
114BTK0.60911926
115TLK10.60659538
116MST1R0.60249681
117PDGFRA0.59103963
118CDK90.57882738
119PIK3CG0.56800474
120* CDK20.54797114
121MAP3K140.53175860
122STK240.52950521
123STK110.52614833
124EIF2AK20.52346143
125TAF10.51867598
126LYN0.51614274
127CDK80.51573580
128CSNK1A1L0.51284131
129LCK0.51188540
130SYK0.50111274
131PIK3CA0.48587168
132OBSCN0.48391010
133MAP3K70.47956255
134PRKCG0.47424897
135* BMPR1B0.47247235
136FRK0.47225920
137NUAK10.46044880
138TIE10.46005257
139NTRK30.45396032
140ALK0.45288753
141IKBKB0.43916322
142MAP3K30.43157861
143MST40.42766914
144TGFBR20.41145649
145FGFR10.41075822
146PRKAA10.40900226
147MAPKAPK20.40838062
148TAOK30.40365284
149NTRK20.39203245
150SGK4940.38201914
151SGK2230.38201914
152CSNK1D0.38165418
153MET0.37450848
154CAMK40.34727029
155MUSK0.34215674
156CSNK1G20.33720510
157IRAK10.33386865
158ERBB20.31717493
159PRKCQ0.31620105
160SGK30.30492556
161CAMK10.28938791
162SGK10.28809564
163YES10.28407400
164PRKCH0.28344818
165EPHA40.26134690
166CDK30.26133708

Predicted pathways (KEGG)

RankGene SetZ-score
1DNA replication_Homo sapiens_hsa030303.53585585
2Mismatch repair_Homo sapiens_hsa034302.81948847
3* Cell cycle_Homo sapiens_hsa041102.63792147
4Nitrogen metabolism_Homo sapiens_hsa009102.57958998
5Phototransduction_Homo sapiens_hsa047442.34162593
6Base excision repair_Homo sapiens_hsa034102.25467506
7Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.18585346
8RNA transport_Homo sapiens_hsa030132.18526526
9Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.16757465
10Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.16157258
11Spliceosome_Homo sapiens_hsa030402.15792957
12Proteasome_Homo sapiens_hsa030502.05204621
13p53 signaling pathway_Homo sapiens_hsa041151.93009663
14Homologous recombination_Homo sapiens_hsa034401.92784283
15Nucleotide excision repair_Homo sapiens_hsa034201.88685573
16Butanoate metabolism_Homo sapiens_hsa006501.88558873
17alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.88166628
18Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.87108841
19ABC transporters_Homo sapiens_hsa020101.86727701
20Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.82013305
21Selenocompound metabolism_Homo sapiens_hsa004501.79287079
22Lysine degradation_Homo sapiens_hsa003101.74464168
23Dorso-ventral axis formation_Homo sapiens_hsa043201.74152889
24Tryptophan metabolism_Homo sapiens_hsa003801.73778538
25Linoleic acid metabolism_Homo sapiens_hsa005911.73050761
26Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.69125377
27Leishmaniasis_Homo sapiens_hsa051401.66803464
28Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.63338498
29Herpes simplex infection_Homo sapiens_hsa051681.63332674
30Nicotine addiction_Homo sapiens_hsa050331.63054063
31Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.62067321
32Antigen processing and presentation_Homo sapiens_hsa046121.58577174
33Propanoate metabolism_Homo sapiens_hsa006401.55828077
34Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.54146371
35Legionellosis_Homo sapiens_hsa051341.50301114
36RNA polymerase_Homo sapiens_hsa030201.49191034
37Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.49036084
38Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.48396871
39One carbon pool by folate_Homo sapiens_hsa006701.45813688
40Epstein-Barr virus infection_Homo sapiens_hsa051691.44172654
41Taste transduction_Homo sapiens_hsa047421.44069703
42NF-kappa B signaling pathway_Homo sapiens_hsa040641.42776182
43Measles_Homo sapiens_hsa051621.42337069
44Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.39933950
45Viral myocarditis_Homo sapiens_hsa054161.37708319
46Ether lipid metabolism_Homo sapiens_hsa005651.36475472
47Viral carcinogenesis_Homo sapiens_hsa052031.36242287
48Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.34949415
49RNA degradation_Homo sapiens_hsa030181.33698574
50Primary immunodeficiency_Homo sapiens_hsa053401.30894700
51Shigellosis_Homo sapiens_hsa051311.27831458
52Pyrimidine metabolism_Homo sapiens_hsa002401.27241206
53Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.26292025
54Fanconi anemia pathway_Homo sapiens_hsa034601.26012267
55Circadian rhythm_Homo sapiens_hsa047101.25700687
56Allograft rejection_Homo sapiens_hsa053301.25332706
57mRNA surveillance pathway_Homo sapiens_hsa030151.24275857
58Small cell lung cancer_Homo sapiens_hsa052221.24098323
59Olfactory transduction_Homo sapiens_hsa047401.23710604
60Hedgehog signaling pathway_Homo sapiens_hsa043401.23272965
61Ribosome_Homo sapiens_hsa030101.22079349
62Non-homologous end-joining_Homo sapiens_hsa034501.20879972
63MicroRNAs in cancer_Homo sapiens_hsa052061.18375293
64Glycerolipid metabolism_Homo sapiens_hsa005611.17883136
65Morphine addiction_Homo sapiens_hsa050321.17665738
66Systemic lupus erythematosus_Homo sapiens_hsa053221.16875644
67Basal cell carcinoma_Homo sapiens_hsa052171.15561927
68Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.13306495
69Primary bile acid biosynthesis_Homo sapiens_hsa001201.13174405
70Hepatitis B_Homo sapiens_hsa051611.13150420
71Serotonergic synapse_Homo sapiens_hsa047261.12937267
72Intestinal immune network for IgA production_Homo sapiens_hsa046721.12933019
73Graft-versus-host disease_Homo sapiens_hsa053321.12746157
74Basal transcription factors_Homo sapiens_hsa030221.11603934
75* HTLV-I infection_Homo sapiens_hsa051661.11425250
76Apoptosis_Homo sapiens_hsa042101.10462367
77Toxoplasmosis_Homo sapiens_hsa051451.07911492
78Caffeine metabolism_Homo sapiens_hsa002321.07121031
79Calcium signaling pathway_Homo sapiens_hsa040201.07044103
80Fatty acid biosynthesis_Homo sapiens_hsa000611.06817253
81Ubiquitin mediated proteolysis_Homo sapiens_hsa041201.06656535
82Ovarian steroidogenesis_Homo sapiens_hsa049131.06574089
83NOD-like receptor signaling pathway_Homo sapiens_hsa046211.06150862
84Glutamatergic synapse_Homo sapiens_hsa047241.05100947
85Histidine metabolism_Homo sapiens_hsa003401.04705044
86Influenza A_Homo sapiens_hsa051641.04668668
87Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.04462910
88Thyroid cancer_Homo sapiens_hsa052161.03988091
89* Colorectal cancer_Homo sapiens_hsa052101.03459321
90Osteoclast differentiation_Homo sapiens_hsa043801.02728954
91Hematopoietic cell lineage_Homo sapiens_hsa046401.02608263
92Maturity onset diabetes of the young_Homo sapiens_hsa049501.02056016
93Chronic myeloid leukemia_Homo sapiens_hsa052200.97907106
94Vascular smooth muscle contraction_Homo sapiens_hsa042700.97853268
95* Adherens junction_Homo sapiens_hsa045200.97207646
96Transcriptional misregulation in cancer_Homo sapiens_hsa052020.96575424
97B cell receptor signaling pathway_Homo sapiens_hsa046620.95924780
98Circadian entrainment_Homo sapiens_hsa047130.95391574
99Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.95211559
100Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.93960235
101Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.93564063
102Steroid hormone biosynthesis_Homo sapiens_hsa001400.92794332
103Leukocyte transendothelial migration_Homo sapiens_hsa046700.91718966
104Toll-like receptor signaling pathway_Homo sapiens_hsa046200.91552229
105T cell receptor signaling pathway_Homo sapiens_hsa046600.89695703
106Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.89670141
107* Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.89231771
108Sphingolipid metabolism_Homo sapiens_hsa006000.88082602
109* TGF-beta signaling pathway_Homo sapiens_hsa043500.87419673
110Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.87385861
111* Pancreatic cancer_Homo sapiens_hsa052120.86462672
112TNF signaling pathway_Homo sapiens_hsa046680.86422774
113beta-Alanine metabolism_Homo sapiens_hsa004100.86165608
114Jak-STAT signaling pathway_Homo sapiens_hsa046300.83293255
115Oocyte meiosis_Homo sapiens_hsa041140.82788497
116Tuberculosis_Homo sapiens_hsa051520.81413333
117Autoimmune thyroid disease_Homo sapiens_hsa053200.81325328
118Pertussis_Homo sapiens_hsa051330.81115985
119Salmonella infection_Homo sapiens_hsa051320.80556490
120Long-term depression_Homo sapiens_hsa047300.78493961
121Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.77811135
122Wnt signaling pathway_Homo sapiens_hsa043100.76811432
123* Proteoglycans in cancer_Homo sapiens_hsa052050.75996539
124Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.75514318
125Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.73216360
126Chemical carcinogenesis_Homo sapiens_hsa052040.73198564
127Malaria_Homo sapiens_hsa051440.72367936
128Steroid biosynthesis_Homo sapiens_hsa001000.72267365
129RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.72205730
130Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.72159048
131Retinol metabolism_Homo sapiens_hsa008300.71906596
132Insulin secretion_Homo sapiens_hsa049110.69946830
133* AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.69893214
134Notch signaling pathway_Homo sapiens_hsa043300.69733458
135cAMP signaling pathway_Homo sapiens_hsa040240.69074107
136Acute myeloid leukemia_Homo sapiens_hsa052210.68392454
137cGMP-PKG signaling pathway_Homo sapiens_hsa040220.66980259
138Type I diabetes mellitus_Homo sapiens_hsa049400.66049096
139* Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.65942337
140* Hippo signaling pathway_Homo sapiens_hsa043900.65404226
141GABAergic synapse_Homo sapiens_hsa047270.64178156
142Bladder cancer_Homo sapiens_hsa052190.63461677
143Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.63357468
144Fatty acid degradation_Homo sapiens_hsa000710.63227560
145mTOR signaling pathway_Homo sapiens_hsa041500.63015300
146Peroxisome_Homo sapiens_hsa041460.62038837
147Endometrial cancer_Homo sapiens_hsa052130.61185848
148Salivary secretion_Homo sapiens_hsa049700.60198018
149Aldosterone synthesis and secretion_Homo sapiens_hsa049250.59982634
150Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.58743401
151Vitamin digestion and absorption_Homo sapiens_hsa049770.58139875
152Oxytocin signaling pathway_Homo sapiens_hsa049210.57737789
153Cholinergic synapse_Homo sapiens_hsa047250.57212366
154Asthma_Homo sapiens_hsa053100.56720013
155Platelet activation_Homo sapiens_hsa046110.56681044
156* Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.56526605
157Prostate cancer_Homo sapiens_hsa052150.55928714
158* Pathways in cancer_Homo sapiens_hsa052000.55680210
159Neurotrophin signaling pathway_Homo sapiens_hsa047220.55212493
160Focal adhesion_Homo sapiens_hsa045100.54495351
161Melanoma_Homo sapiens_hsa052180.54027778
162Dopaminergic synapse_Homo sapiens_hsa047280.53931842
163Prolactin signaling pathway_Homo sapiens_hsa049170.53234735
164Phagosome_Homo sapiens_hsa041450.53164523
165N-Glycan biosynthesis_Homo sapiens_hsa005100.53127792
166* FoxO signaling pathway_Homo sapiens_hsa040680.52568815
167Hepatitis C_Homo sapiens_hsa051600.51302036
168Protein export_Homo sapiens_hsa030600.51035367
169Renin-angiotensin system_Homo sapiens_hsa046140.50905715
170Phosphatidylinositol signaling system_Homo sapiens_hsa040700.48425618
171Inositol phosphate metabolism_Homo sapiens_hsa005620.48280417
172Renin secretion_Homo sapiens_hsa049240.44936788
173Gastric acid secretion_Homo sapiens_hsa049710.43720201
174Melanogenesis_Homo sapiens_hsa049160.42019264
175Regulation of autophagy_Homo sapiens_hsa041400.41938243
176Glycerophospholipid metabolism_Homo sapiens_hsa005640.41923484
177Cysteine and methionine metabolism_Homo sapiens_hsa002700.40509271
178Pancreatic secretion_Homo sapiens_hsa049720.40272213
179Longevity regulating pathway - mammal_Homo sapiens_hsa042110.39112680
180Alcoholism_Homo sapiens_hsa050340.38528709
181Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.37236171
182Arachidonic acid metabolism_Homo sapiens_hsa005900.36564279

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