TBX6

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





Description: This gene is a member of a phylogenetically conserved family of genes that share a common DNA-binding domain, the T-box. T-box genes encode transcription factors involved in the regulation of developmental processes. Knockout studies in mice indicate that this gene is important for specification of paraxial mesoderm structures. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of cell killing (GO:0031342)7.52083328
2negative regulation of leukocyte mediated cytotoxicity (GO:0001911)7.52083328
3fat-soluble vitamin catabolic process (GO:0042363)6.65155765
4vitamin catabolic process (GO:0009111)6.65155765
5positive regulation of gamma-delta T cell activation (GO:0046645)5.79646328
6pre-miRNA processing (GO:0031054)5.41715593
7behavioral response to nicotine (GO:0035095)5.39782792
8regulation of gamma-delta T cell differentiation (GO:0045586)5.30667517
9fucose catabolic process (GO:0019317)5.01089246
10L-fucose metabolic process (GO:0042354)5.01089246
11L-fucose catabolic process (GO:0042355)5.01089246
12secondary heart field specification (GO:0003139)4.71906220
13heart field specification (GO:0003128)4.71906220
14protoporphyrinogen IX metabolic process (GO:0046501)4.70958674
15positive thymic T cell selection (GO:0045059)4.58617917
16regulation of gamma-delta T cell activation (GO:0046643)4.57454216
17cell migration involved in gastrulation (GO:0042074)4.17504295
18protoporphyrinogen IX biosynthetic process (GO:0006782)4.04713271
19negative T cell selection (GO:0043383)4.03786152
20positive T cell selection (GO:0043368)3.98898684
21water-soluble vitamin biosynthetic process (GO:0042364)3.93924979
22B cell receptor signaling pathway (GO:0050853)3.88819151
23DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla3.80911775
24negative thymic T cell selection (GO:0045060)3.80228054
25negative regulation of mast cell activation (GO:0033004)3.79207446
26preassembly of GPI anchor in ER membrane (GO:0016254)3.77216313
27platelet dense granule organization (GO:0060155)3.76126483
28mitotic sister chromatid cohesion (GO:0007064)3.63540191
29positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.62608653
30response to pheromone (GO:0019236)3.59665666
31negative regulation of fatty acid biosynthetic process (GO:0045717)3.56747686
32V(D)J recombination (GO:0033151)3.54434156
33trophoblast giant cell differentiation (GO:0060707)3.54169799
34DNA damage response, signal transduction resulting in transcription (GO:0042772)3.51273711
35indole-containing compound catabolic process (GO:0042436)3.47271580
36indolalkylamine catabolic process (GO:0046218)3.47271580
37tryptophan catabolic process (GO:0006569)3.47271580
38negative regulation of telomere maintenance (GO:0032205)3.46081235
39detection of light stimulus involved in sensory perception (GO:0050962)3.43964140
40detection of light stimulus involved in visual perception (GO:0050908)3.43964140
41dosage compensation (GO:0007549)3.40142128
42indolalkylamine metabolic process (GO:0006586)3.40139980
43DNA unwinding involved in DNA replication (GO:0006268)3.39963481
44kynurenine metabolic process (GO:0070189)3.38507194
45cellular ketone body metabolic process (GO:0046950)3.38208962
46adaptation of signaling pathway (GO:0023058)3.37739751
47protein polyglutamylation (GO:0018095)3.36186746
48ubiquinone biosynthetic process (GO:0006744)3.33771704
49axoneme assembly (GO:0035082)3.33587507
50regulation of cilium movement (GO:0003352)3.32858303
51base-excision repair, AP site formation (GO:0006285)3.30482960
52piRNA metabolic process (GO:0034587)3.28217348
53epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.27998677
54positive regulation by host of viral transcription (GO:0043923)3.27458438
55regulation of action potential (GO:0098900)3.26782901
56rRNA catabolic process (GO:0016075)3.23865650
57positive regulation of granulocyte differentiation (GO:0030854)3.23666577
58T cell selection (GO:0045058)3.19921939
59paraxial mesoderm development (GO:0048339)3.19731626
60negative regulation of retinoic acid receptor signaling pathway (GO:0048387)3.18674388
61thymic T cell selection (GO:0045061)3.17831332
62retinal cone cell development (GO:0046549)3.16548846
63positive regulation of gene expression, epigenetic (GO:0045815)3.15666209
64regulation of isotype switching to IgG isotypes (GO:0048302)3.14526075
65positive regulation of prostaglandin secretion (GO:0032308)3.14482745
66negative regulation of cell fate specification (GO:0009996)3.13101112
67protein complex biogenesis (GO:0070271)3.13041869
68sulfation (GO:0051923)3.13026388
69otic vesicle formation (GO:0030916)3.12770412
70ketone body metabolic process (GO:1902224)3.11445081
71negative regulation of histone methylation (GO:0031061)3.10864025
72erythrocyte maturation (GO:0043249)3.10719919
73mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.10439537
74mitochondrial respiratory chain complex I assembly (GO:0032981)3.10439537
75NADH dehydrogenase complex assembly (GO:0010257)3.10439537
76DNA deamination (GO:0045006)3.07082237
77histone H3-K36 demethylation (GO:0070544)3.03076903
78phosphatidylinositol acyl-chain remodeling (GO:0036149)3.01753277
79regulation of mesoderm development (GO:2000380)3.00980391
80detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.00209208
81regulation of B cell receptor signaling pathway (GO:0050855)2.99652535
82positive regulation of isotype switching (GO:0045830)2.99483319
83ubiquinone metabolic process (GO:0006743)2.98789245
84L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.96516798
85gamma-aminobutyric acid transport (GO:0015812)2.95890224
86respiratory chain complex IV assembly (GO:0008535)2.95267376
87glycerophospholipid catabolic process (GO:0046475)2.94574349
88cell migration involved in heart development (GO:0060973)2.94217646
89porphyrin-containing compound biosynthetic process (GO:0006779)2.93532892
90cornea development in camera-type eye (GO:0061303)2.92867795
91positive regulation of fatty acid transport (GO:2000193)2.92541045
92positive regulation of histone deacetylation (GO:0031065)2.92348506
93mitochondrial respiratory chain complex assembly (GO:0033108)2.92154684
94* signal transduction involved in regulation of gene expression (GO:0023019)2.91806259
953-UTR-mediated mRNA stabilization (GO:0070935)2.90603934
96regulation of memory T cell differentiation (GO:0043380)2.90508716
97regulation of sister chromatid cohesion (GO:0007063)2.89751092
98regulation of B cell differentiation (GO:0045577)2.89551001
99cilium morphogenesis (GO:0060271)2.87500713
100post-anal tail morphogenesis (GO:0036342)2.87254507
101protein K11-linked deubiquitination (GO:0035871)2.86513654
102T cell migration (GO:0072678)2.86352175
103negative regulation of synaptic transmission, GABAergic (GO:0032229)2.85044999
104S-adenosylmethionine metabolic process (GO:0046500)2.84493824
105tryptophan metabolic process (GO:0006568)2.84067331
106protein-cofactor linkage (GO:0018065)2.83440755
107Notch signaling involved in heart development (GO:0061314)2.82395169
108cranial suture morphogenesis (GO:0060363)2.81978625
109alternative mRNA splicing, via spliceosome (GO:0000380)2.81283921
110B cell proliferation (GO:0042100)2.80502322
111epithelial cilium movement (GO:0003351)2.79482924
112leukocyte aggregation (GO:0070486)2.78521083
113response to interleukin-15 (GO:0070672)2.77876729
114positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)2.77447656
115negative regulation of mRNA splicing, via spliceosome (GO:0048025)2.76371355
116amino acid salvage (GO:0043102)2.76141386
117L-methionine salvage (GO:0071267)2.76141386
118L-methionine biosynthetic process (GO:0071265)2.76141386
119cytochrome complex assembly (GO:0017004)2.76009231
120protein-DNA complex disassembly (GO:0032986)2.74384776
121nucleosome disassembly (GO:0006337)2.74384776
122fucosylation (GO:0036065)2.74066682
123chromatin assembly (GO:0031497)2.73721921
124mitotic chromosome condensation (GO:0007076)2.73525561
125G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.73005866
126neural tube formation (GO:0001841)2.72706993
127histone H3-K4 methylation (GO:0051568)2.72410716
128regulation of tyrosine phosphorylation of Stat5 protein (GO:0042522)2.72396345
129sister chromatid segregation (GO:0000819)2.71745076
130cellular response to ATP (GO:0071318)2.71422802
131regulation of nuclear cell cycle DNA replication (GO:0033262)2.70729164
132quinone biosynthetic process (GO:1901663)2.70263242
133negative regulation of RNA splicing (GO:0033119)2.69351815
134mannosylation (GO:0097502)2.69250129
135regulation of neurotransmitter uptake (GO:0051580)2.69191026
136regulation of microtubule-based movement (GO:0060632)2.69037321
137regulation of DNA endoreduplication (GO:0032875)2.67732349
138ncRNA catabolic process (GO:0034661)2.67355946
139antigen receptor-mediated signaling pathway (GO:0050851)2.67197436
140mitotic sister chromatid segregation (GO:0000070)2.67156897
141GPI anchor metabolic process (GO:0006505)2.66826395
142interferon-gamma production (GO:0032609)2.66158093
143cellular response to interleukin-15 (GO:0071350)2.65912290
144behavioral response to ethanol (GO:0048149)2.64536508
145mitotic cell cycle arrest (GO:0071850)2.64350029
146cellular biogenic amine catabolic process (GO:0042402)2.63886312
147amine catabolic process (GO:0009310)2.63886312
148regulation of histone H3-K9 methylation (GO:0051570)2.62560407
149kidney morphogenesis (GO:0060993)2.62450567
150specification of organ identity (GO:0010092)2.61740535
151reflex (GO:0060004)2.61383224
152nodal signaling pathway (GO:0038092)2.60444118
153indole-containing compound metabolic process (GO:0042430)2.59583220
154neuronal action potential (GO:0019228)2.59442319
155positive regulation of defense response to virus by host (GO:0002230)2.59175096
156histone H3-K4 trimethylation (GO:0080182)2.59031904
157polyol catabolic process (GO:0046174)2.59029948
158C-terminal protein lipidation (GO:0006501)2.59011015
159NAD biosynthetic process (GO:0009435)2.58463661
1603-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.57681005
161purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.57681005
162regulation of alpha-beta T cell proliferation (GO:0046640)2.57671801
163positive regulation of B cell differentiation (GO:0045579)2.56739396
164protein localization to cilium (GO:0061512)2.56216822
165positive regulation of DNA recombination (GO:0045911)2.55742483
166regulation of translational termination (GO:0006449)2.55363380
167DNA methylation involved in gamete generation (GO:0043046)2.54562513
168T cell receptor signaling pathway (GO:0050852)2.54547180
169nephron tubule morphogenesis (GO:0072078)2.53765877
170nephron epithelium morphogenesis (GO:0072088)2.53765877
171neural crest cell development (GO:0014032)2.53085736
172positive regulation of icosanoid secretion (GO:0032305)2.52942976
173nuclear pore complex assembly (GO:0051292)2.52597921
174autophagic vacuole fusion (GO:0000046)2.50196037
175regulation of Wnt signaling pathway involved in heart development (GO:0003307)2.49596801
176regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.49589224
177nuclear pore organization (GO:0006999)2.49501610
178intracellular estrogen receptor signaling pathway (GO:0030520)2.49388072
179cellular hyperosmotic response (GO:0071474)2.48099622
180positive regulation of oligodendrocyte differentiation (GO:0048714)2.47645947
181mRNA splice site selection (GO:0006376)2.46963314
182reciprocal meiotic recombination (GO:0007131)2.46904167
183reciprocal DNA recombination (GO:0035825)2.46904167
184C-terminal protein amino acid modification (GO:0018410)2.46604722
185nucleobase catabolic process (GO:0046113)2.46269506
186negative regulation of erythrocyte differentiation (GO:0045647)2.45724465
187peptidyl-histidine modification (GO:0018202)2.45440976
188antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.45030479
189antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.45030479
190synaptic transmission, cholinergic (GO:0007271)2.45011240
191tetrapyrrole biosynthetic process (GO:0033014)2.44709063
192organelle membrane fusion (GO:0090174)2.44402669
193negative regulation of cytosolic calcium ion concentration (GO:0051481)2.43831961
194regulation of granulocyte differentiation (GO:0030852)2.43051579
195cAMP catabolic process (GO:0006198)2.41543077
196gastrulation (GO:0007369)2.40959296
197negative regulation of cardiac muscle tissue development (GO:0055026)2.39691003
198regulation of isotype switching (GO:0045191)2.39140174
199RNA stabilization (GO:0043489)2.38814031
200mRNA stabilization (GO:0048255)2.38814031

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.32012728
2ZNF274_21170338_ChIP-Seq_K562_Hela4.68621407
3FOXM1_23109430_ChIP-Seq_U2OS_Human4.54648782
4MYC_22102868_ChIP-Seq_BL_Human4.31477592
5EGR1_19374776_ChIP-ChIP_THP-1_Human3.80178886
6VDR_22108803_ChIP-Seq_LS180_Human3.39263059
7E2F4_17652178_ChIP-ChIP_JURKAT_Human3.02489038
8EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.88965195
9VDR_21846776_ChIP-Seq_THP-1_Human2.87955400
10GATA1_22025678_ChIP-Seq_K562_Human2.81517870
11STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.77573026
12GBX2_23144817_ChIP-Seq_PC3_Human2.62746080
13NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.59743861
14HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.50575794
15SCL_19346495_ChIP-Seq_HPC-7_Human2.45374849
16GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.45035925
17GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.41577859
18IGF1R_20145208_ChIP-Seq_DFB_Human2.41125805
19ZFP57_27257070_Chip-Seq_ESCs_Mouse2.38458228
20CIITA_25753668_ChIP-Seq_RAJI_Human2.33823229
21EZH2_22144423_ChIP-Seq_EOC_Human2.32705124
22FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.28551989
23MAF_26560356_Chip-Seq_TH1_Human2.25301421
24FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.22057581
25* TCF7_22412390_ChIP-Seq_EML_Mouse2.18463087
26UTX_26944678_Chip-Seq_JUKART_Human2.17043468
27KDM2B_26808549_Chip-Seq_HPB-ALL_Human2.13400071
28FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.12940387
29CTBP1_25329375_ChIP-Seq_LNCAP_Human2.07710969
30SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.04698863
31KDM2B_26808549_Chip-Seq_DND41_Human2.02233017
32FLI1_27457419_Chip-Seq_LIVER_Mouse2.02086467
33CTBP2_25329375_ChIP-Seq_LNCAP_Human2.01132058
34KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.98482547
35ER_23166858_ChIP-Seq_MCF-7_Human1.95877448
36MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.95195774
37FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.94250606
38TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.94229339
39POU3F2_20337985_ChIP-ChIP_501MEL_Human1.92723476
40MYB_26560356_Chip-Seq_TH2_Human1.89220395
41MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.88568043
42ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.87698111
43TP53_22573176_ChIP-Seq_HFKS_Human1.86716757
44EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.86300584
45EWS_26573619_Chip-Seq_HEK293_Human1.81865824
46IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.76501070
47E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.76499929
48TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.76420729
49STAT6_21828071_ChIP-Seq_BEAS2B_Human1.75596084
50KDM2B_26808549_Chip-Seq_SUP-B15_Human1.71250053
51P300_19829295_ChIP-Seq_ESCs_Human1.69630541
52MYB_26560356_Chip-Seq_TH1_Human1.69558761
53RUNX_20019798_ChIP-Seq_JUKART_Human1.69027352
54GABP_17652178_ChIP-ChIP_JURKAT_Human1.68892108
55GATA1_19941826_ChIP-Seq_K562_Human1.68759363
56VDR_24763502_ChIP-Seq_THP-1_Human1.68247208
57TAF15_26573619_Chip-Seq_HEK293_Human1.66380242
58ELK3_25401928_ChIP-Seq_HUVEC_Human1.65258872
59TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.64797126
60RUNX1_22412390_ChIP-Seq_EML_Mouse1.63780979
61FUS_26573619_Chip-Seq_HEK293_Human1.63055528
62FOXA1_25329375_ChIP-Seq_VCAP_Human1.62792431
63FOXA1_27270436_Chip-Seq_PROSTATE_Human1.62792431
64BRD4_27068464_Chip-Seq_AML-cells_Mouse1.62770283
65E2F1_21310950_ChIP-Seq_MCF-7_Human1.61846147
66MAF_26560356_Chip-Seq_TH2_Human1.59969653
67MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.59526892
68MYC_18940864_ChIP-ChIP_HL60_Human1.59155730
69MYC_18555785_ChIP-Seq_MESCs_Mouse1.53715284
70PCGF2_27294783_Chip-Seq_ESCs_Mouse1.53328733
71KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.51801831
72IRF1_19129219_ChIP-ChIP_H3396_Human1.49158265
73NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.48738287
74GATA3_21878914_ChIP-Seq_MCF-7_Human1.48431538
75BCAT_22108803_ChIP-Seq_LS180_Human1.47390392
76MYC_19079543_ChIP-ChIP_MESCs_Mouse1.45941223
77SALL1_21062744_ChIP-ChIP_HESCs_Human1.44416085
78ETV2_25802403_ChIP-Seq_MESCs_Mouse1.43089152
79NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.42989105
80SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.42906734
81RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.41004903
82GATA1_19941827_ChIP-Seq_MEL_Mouse1.40887152
83TP63_19390658_ChIP-ChIP_HaCaT_Human1.39510683
84* ERA_21632823_ChIP-Seq_H3396_Human1.39199538
85SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.38625130
86NCOR_22424771_ChIP-Seq_293T_Human1.37538472
87GATA1_22383799_ChIP-Seq_G1ME_Mouse1.37284560
88REST_21632747_ChIP-Seq_MESCs_Mouse1.35201896
89UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.34874524
90NCOR1_26117541_ChIP-Seq_K562_Human1.32928493
91CBP_20019798_ChIP-Seq_JUKART_Human1.32847595
92IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.32847595
93STAT4_19710469_ChIP-ChIP_TH1__Mouse1.32628934
94SRF_21415370_ChIP-Seq_HL-1_Mouse1.32442519
95AR_20517297_ChIP-Seq_VCAP_Human1.32329123
96XRN2_22483619_ChIP-Seq_HELA_Human1.32000708
97STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.31448207
98IKZF1_21737484_ChIP-ChIP_HCT116_Human1.30968003
99SOX2_19829295_ChIP-Seq_ESCs_Human1.30011324
100NANOG_19829295_ChIP-Seq_ESCs_Human1.30011324
101NR3C1_21868756_ChIP-Seq_MCF10A_Human1.29770828
102ELF1_17652178_ChIP-ChIP_JURKAT_Human1.28408093
103AR_25329375_ChIP-Seq_VCAP_Human1.27631487
104IRF8_22096565_ChIP-ChIP_GC-B_Human1.27448867
105HOXB7_26014856_ChIP-Seq_BT474_Human1.27057050
106TCF4_23295773_ChIP-Seq_U87_Human1.26320100
107EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.25998425
108GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.25985345
109KDM5A_27292631_Chip-Seq_BREAST_Human1.25487943
110STAT3_23295773_ChIP-Seq_U87_Human1.25336829
111NANOG_20526341_ChIP-Seq_ESCs_Human1.23664415
112BMI1_23680149_ChIP-Seq_NPCS_Mouse1.22923098
113NELFA_20434984_ChIP-Seq_ESCs_Mouse1.22382006
114AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.21082159
115EGR1_23403033_ChIP-Seq_LIVER_Mouse1.21061842
116SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.20931886
117LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.20916444
118* CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.20819270
119PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.20701163
120KDM2B_26808549_Chip-Seq_JURKAT_Human1.20364294
121CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.19947623
122JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.19085432
123FOXA1_21572438_ChIP-Seq_LNCaP_Human1.18932614
124CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.18844053
125TAF2_19829295_ChIP-Seq_ESCs_Human1.17965251
126HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.17731717
127* EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.16075877
128MYC_19030024_ChIP-ChIP_MESCs_Mouse1.15707005
129GATA3_27048872_Chip-Seq_THYMUS_Human1.14255786
130CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.14052099
131CBX2_27304074_Chip-Seq_ESCs_Mouse1.13931375
132KLF5_20875108_ChIP-Seq_MESCs_Mouse1.13006476
133OCT4_20526341_ChIP-Seq_ESCs_Human1.12675166
134* MYC_19829295_ChIP-Seq_ESCs_Human1.12588830
135IRF8_21731497_ChIP-ChIP_J774_Mouse1.12554602
136RUNX2_22187159_ChIP-Seq_PCA_Human1.12138872
137SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.11978589
138MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.11759805
139TCF4_22108803_ChIP-Seq_LS180_Human1.11423317
140SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.08525142
141* GATA2_22383799_ChIP-Seq_G1ME_Mouse1.06493891
142KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.05325110
143GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.05174894
144* TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.04724703
145REST_18959480_ChIP-ChIP_MESCs_Mouse1.04481756
146POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.04333994
147TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.04333994
148PCGF2_27294783_Chip-Seq_NPCs_Mouse1.04098863
149SMAD4_21799915_ChIP-Seq_A2780_Human1.03783201
150AUTS2_25519132_ChIP-Seq_293T-REX_Human1.03580981
151MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.03572717
152NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.01559011
153* P53_21459846_ChIP-Seq_SAOS-2_Human1.01059614
154E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.00944269
155PRDM14_20953172_ChIP-Seq_ESCs_Human1.00573666
156* DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.99960604
157SUZ12_27294783_Chip-Seq_NPCs_Mouse0.99712745
158SMAD4_21741376_ChIP-Seq_EPCs_Human0.99376976
159MYB_21317192_ChIP-Seq_ERMYB_Mouse0.99131020
160RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.98314785
161GATA3_26560356_Chip-Seq_TH2_Human0.98193490
162* ETS1_20019798_ChIP-Seq_JURKAT_Human0.97832323
163FOXH1_21741376_ChIP-Seq_ESCs_Human0.97830846
164EBNA1_20929547_Chip-Seq_RAJI-cells_Human0.97811340
165SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.97774179
166NOTCH1_21737748_ChIP-Seq_TLL_Human0.97477574
167* RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.97015443
168IRF8_27001747_Chip-Seq_BMDM_Mouse0.96453468
169FLI1_21867929_ChIP-Seq_TH2_Mouse0.96217818
170GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.95706096
171PIAS1_25552417_ChIP-Seq_VCAP_Human0.95431635
172SPI1_23547873_ChIP-Seq_NB4_Human0.94924473
173FOXP3_21729870_ChIP-Seq_TREG_Human0.94254520
174CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.94140860
175GATA2_19941826_ChIP-Seq_K562_Human0.93567304
176KLF4_18555785_ChIP-Seq_MESCs_Mouse0.93168333
177MYCN_18555785_ChIP-Seq_MESCs_Mouse0.92428777
178ZFP281_27345836_Chip-Seq_ESCs_Mouse0.90984821
179ERG_20887958_ChIP-Seq_HPC-7_Mouse0.90610445
180SPI1_23127762_ChIP-Seq_K562_Human0.89368174
181EST1_17652178_ChIP-ChIP_JURKAT_Human0.88555742
182KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.88092857
183KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.87515142
184NANOG_21062744_ChIP-ChIP_HESCs_Human0.87013694
185VDR_23849224_ChIP-Seq_CD4+_Human0.86833033
186CTCF_27219007_Chip-Seq_ERYTHROID_Human0.86123388
187FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.85525603
188AR_21909140_ChIP-Seq_LNCAP_Human0.84531924
189* ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.83848610
190TFEB_21752829_ChIP-Seq_HELA_Human0.83408852
191EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.83269060
192IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.82507489
193MYC_18358816_ChIP-ChIP_MESCs_Mouse0.82400299
194KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.82269260
195P68_20966046_ChIP-Seq_HELA_Human0.82061185

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003656_abnormal_erythrocyte_physiolo3.34806862
2MP0003195_calcinosis2.90438873
3MP0002396_abnormal_hematopoietic_system2.84949006
4MP0003763_abnormal_thymus_physiology2.84747158
5MP0001986_abnormal_taste_sensitivity2.66280526
6MP0001968_abnormal_touch/_nociception2.63267170
7MP0008877_abnormal_DNA_methylation2.62932714
8MP0002132_abnormal_respiratory_system2.61858297
9MP0002102_abnormal_ear_morphology2.58962576
10MP0000685_abnormal_immune_system2.57759980
11MP0005551_abnormal_eye_electrophysiolog2.53598143
12MP0005645_abnormal_hypothalamus_physiol2.53502384
13MP0002876_abnormal_thyroid_physiology2.51759209
14MP0008875_abnormal_xenobiotic_pharmacok2.42837297
15MP0000569_abnormal_digit_pigmentation2.36995589
16MP0000703_abnormal_thymus_morphology2.36143964
17MP0008872_abnormal_physiological_respon2.27981258
18MP0001800_abnormal_humoral_immune2.24515478
19MP0010094_abnormal_chromosome_stability2.24423745
20* MP0003077_abnormal_cell_cycle2.23270004
21MP0002398_abnormal_bone_marrow2.21752764
22MP0003111_abnormal_nucleus_morphology2.20299992
23MP0005671_abnormal_response_to2.16740712
24MP0002722_abnormal_immune_system2.10908715
25MP0001790_abnormal_immune_system2.08252835
26MP0005387_immune_system_phenotype2.08252835
27MP0001501_abnormal_sleep_pattern2.07148219
28MP0002837_dystrophic_cardiac_calcinosis2.05652350
29MP0000689_abnormal_spleen_morphology2.01812844
30MP0009046_muscle_twitch1.98270308
31MP0002736_abnormal_nociception_after1.98049231
32MP0004043_abnormal_pH_regulation1.97215352
33MP0006072_abnormal_retinal_apoptosis1.93535492
34MP0005174_abnormal_tail_pigmentation1.91779847
35MP0002638_abnormal_pupillary_reflex1.91340545
36MP0003011_delayed_dark_adaptation1.91294992
37MP0002405_respiratory_system_inflammati1.84027107
38MP0003300_gastrointestinal_ulcer1.82844670
39MP0005075_abnormal_melanosome_morpholog1.82532997
40MP0003693_abnormal_embryo_hatching1.82512633
41MP0005253_abnormal_eye_physiology1.81900623
42MP0004808_abnormal_hematopoietic_stem1.81284119
43MP0010352_gastrointestinal_tract_polyps1.77929266
44MP0008057_abnormal_DNA_replication1.76681103
45MP0009745_abnormal_behavioral_response1.75645241
46MP0004885_abnormal_endolymph1.74010130
47MP0002420_abnormal_adaptive_immunity1.69618808
48MP0000716_abnormal_immune_system1.69063321
49MP0001730_embryonic_growth_arrest1.68237086
50MP0001819_abnormal_immune_cell1.65155494
51MP0004197_abnormal_fetal_growth/weight/1.64844276
52MP0008007_abnormal_cellular_replicative1.63968244
53MP0002166_altered_tumor_susceptibility1.63273239
54MP0002452_abnormal_antigen_presenting1.63052720
55MP0000427_abnormal_hair_cycle1.61193721
56MP0002723_abnormal_immune_serum1.58204577
57MP0002429_abnormal_blood_cell1.57106462
58MP0005084_abnormal_gallbladder_morpholo1.49936312
59MP0005646_abnormal_pituitary_gland1.49374320
60MP0002272_abnormal_nervous_system1.47772488
61MP0004142_abnormal_muscle_tone1.47152452
62MP0003890_abnormal_embryonic-extraembry1.45972120
63MP0001545_abnormal_hematopoietic_system1.45711616
64MP0005397_hematopoietic_system_phenotyp1.45711616
65MP0005076_abnormal_cell_differentiation1.45701115
66MP0004510_myositis1.45360336
67MP0002938_white_spotting1.45193172
68MP0000733_abnormal_muscle_development1.43676932
69MP0003646_muscle_fatigue1.42746701
70MP0003436_decreased_susceptibility_to1.42726202
71MP0005000_abnormal_immune_tolerance1.42351242
72* MP0002111_abnormal_tail_morphology1.42037760
73* MP0002084_abnormal_developmental_patter1.41451898
74MP0002234_abnormal_pharynx_morphology1.40797107
75* MP0004957_abnormal_blastocyst_morpholog1.40322638
76MP0003303_peritoneal_inflammation1.38348057
77MP0000465_gastrointestinal_hemorrhage1.38247979
78MP0001835_abnormal_antigen_presentation1.37840500
79MP0002653_abnormal_ependyma_morphology1.37074576
80MP0000858_altered_metastatic_potential1.36906255
81MP0000350_abnormal_cell_proliferation1.36694406
82MP0002019_abnormal_tumor_incidence1.34424407
83MP0003252_abnormal_bile_duct1.34250550
84MP0010307_abnormal_tumor_latency1.33725368
85MP0010386_abnormal_urinary_bladder1.33461083
86MP0008058_abnormal_DNA_repair1.32202999
87MP0001697_abnormal_embryo_size1.32056390
88* MP0005380_embryogenesis_phenotype1.31860515
89* MP0001672_abnormal_embryogenesis/_devel1.31860515
90MP0000372_irregular_coat_pigmentation1.29987449
91MP0005389_reproductive_system_phenotype1.29983671
92MP0003984_embryonic_growth_retardation1.28922717
93* MP0002085_abnormal_embryonic_tissue1.28625921
94MP0002735_abnormal_chemical_nociception1.28364904
95MP0008995_early_reproductive_senescence1.27855102
96* MP0002932_abnormal_joint_morphology1.27645576
97MP0002088_abnormal_embryonic_growth/wei1.26481716
98MP0003880_abnormal_central_pattern1.24861366
99MP0002909_abnormal_adrenal_gland1.24631977
100MP0001984_abnormal_olfaction1.24567100
101MP0008932_abnormal_embryonic_tissue1.24190488
102MP0009278_abnormal_bone_marrow1.23963721
103MP0001502_abnormal_circadian_rhythm1.23814557
104MP0002928_abnormal_bile_duct1.22097674
105MP0004742_abnormal_vestibular_system1.21959935
106MP0002160_abnormal_reproductive_system1.21443516
107MP0001873_stomach_inflammation1.19902013
108MP0006292_abnormal_olfactory_placode1.19208321
109MP0009333_abnormal_splenocyte_physiolog1.18431027
110MP0000383_abnormal_hair_follicle1.17802859
111MP0002572_abnormal_emotion/affect_behav1.15861725
112MP0001970_abnormal_pain_threshold1.15609478
113MP0003705_abnormal_hypodermis_morpholog1.15523720
114MP0002006_tumorigenesis1.15510519
115MP0004947_skin_inflammation1.15260927
116MP0005386_behavior/neurological_phenoty1.15164970
117MP0004924_abnormal_behavior1.15164970
118MP0001486_abnormal_startle_reflex1.14081541
119MP0002933_joint_inflammation1.13059579
120MP0004185_abnormal_adipocyte_glucose1.12885995
121MP0000631_abnormal_neuroendocrine_gland1.12881355
122MP0002064_seizures1.12496498
123MP0005365_abnormal_bile_salt1.12451094
124MP0002086_abnormal_extraembryonic_tissu1.12168351
125MP0001919_abnormal_reproductive_system1.11975531
126* MP0002925_abnormal_cardiovascular_devel1.11509373
127MP0002557_abnormal_social/conspecific_i1.11459167
128MP0003935_abnormal_craniofacial_develop1.10781654
129MP0003566_abnormal_cell_adhesion1.10097150
130MP0002095_abnormal_skin_pigmentation1.08918759
131MP0002733_abnormal_thermal_nociception1.07439568
132* MP0002080_prenatal_lethality1.07136921
133MP0006082_CNS_inflammation1.06545106
134MP0003448_altered_tumor_morphology1.06493860
135MP0000015_abnormal_ear_pigmentation1.05350908
136MP0000538_abnormal_urinary_bladder1.05032015
137MP0006276_abnormal_autonomic_nervous1.04925037
138MP0005085_abnormal_gallbladder_physiolo1.04349528
139MP0000678_abnormal_parathyroid_gland1.04305481
140MP0005410_abnormal_fertilization1.04176477
141MP0005670_abnormal_white_adipose1.03650398
142MP0002009_preneoplasia1.03559435
143MP0003136_yellow_coat_color1.03228178
144MP0002138_abnormal_hepatobiliary_system1.02454629
145MP0005025_abnormal_response_to1.01701997
146MP0001324_abnormal_eye_pigmentation1.01568362
147MP0002693_abnormal_pancreas_physiology1.00960713
148MP0003123_paternal_imprinting1.00884535
149MP0009672_abnormal_birth_weight1.00225320
150MP0001905_abnormal_dopamine_level1.00117813
151MP0004147_increased_porphyrin_level0.99624748
152MP0001485_abnormal_pinna_reflex0.97322257
153MP0003283_abnormal_digestive_organ0.97144883
154MP0005332_abnormal_amino_acid0.96020030
155MP0004133_heterotaxia0.94740559
156MP0000313_abnormal_cell_death0.93832127
157MP0001851_eye_inflammation0.93224367
158MP0010030_abnormal_orbit_morphology0.93047173
159MP0009785_altered_susceptibility_to0.92646873
160MP0002067_abnormal_sensory_capabilities0.92063464
161MP0005377_hearing/vestibular/ear_phenot0.91872039
162MP0003878_abnormal_ear_physiology0.91872039
163MP0002249_abnormal_larynx_morphology0.91491058
164MP0000230_abnormal_systemic_arterial0.91278728
165MP0005367_renal/urinary_system_phenotyp0.91260873
166MP0000516_abnormal_urinary_system0.91260873
167MP0010155_abnormal_intestine_physiology0.91123416
168MP0002419_abnormal_innate_immunity0.90801836
169MP0005083_abnormal_biliary_tract0.90520656
170MP0005379_endocrine/exocrine_gland_phen0.89637119
171* MP0003119_abnormal_digestive_system0.88846372
172MP0005195_abnormal_posterior_eye0.88811076
173MP0010329_abnormal_lipoprotein_level0.88734730
174MP0005023_abnormal_wound_healing0.87409597
175MP0002254_reproductive_system_inflammat0.86962170
176MP0009053_abnormal_anal_canal0.86709849
177MP0009703_decreased_birth_body0.86360568
178MP0002063_abnormal_learning/memory/cond0.86017977
179MP0001529_abnormal_vocalization0.85953528
180MP0008961_abnormal_basal_metabolism0.85789796
181MP0004019_abnormal_vitamin_homeostasis0.85789026
182MP0003698_abnormal_male_reproductive0.85681546
183MP0003786_premature_aging0.85316874
184MP0003866_abnormal_defecation0.84581438
185MP0002751_abnormal_autonomic_nervous0.83665897
186* MP0003937_abnormal_limbs/digits/tail_de0.82896902
187* MP0002114_abnormal_axial_skeleton0.82537114
188MP0002163_abnormal_gland_morphology0.81638263
189MP0003787_abnormal_imprinting0.81278648
190MP0003718_maternal_effect0.81197252
191MP0001756_abnormal_urination0.78995430
192MP0004145_abnormal_muscle_electrophysio0.77961014

Predicted human phenotypes

RankGene SetZ-score
1T lymphocytopenia (HP:0005403)5.11187991
2Abnormality of T cell number (HP:0011839)4.71480331
3Congenital stationary night blindness (HP:0007642)4.55937986
4Poikilocytosis (HP:0004447)4.35593393
5Pancreatic cysts (HP:0001737)4.31141207
6Pancreatic fibrosis (HP:0100732)4.01012845
7Abnormality of the fingertips (HP:0001211)4.00515391
8True hermaphroditism (HP:0010459)3.77348034
9Severe combined immunodeficiency (HP:0004430)3.77144545
10Type II lissencephaly (HP:0007260)3.76919861
11Combined immunodeficiency (HP:0005387)3.70642491
12Abnormality of midbrain morphology (HP:0002418)3.68134117
13Molar tooth sign on MRI (HP:0002419)3.68134117
14Thyroiditis (HP:0100646)3.61702661
15Hyperalaninemia (HP:0003348)3.40588949
16Abnormality of pyruvate family amino acid metabolism (HP:0010915)3.40588949
17Abnormality of alanine metabolism (HP:0010916)3.40588949
18Nephronophthisis (HP:0000090)3.37867726
19Hyperventilation (HP:0002883)3.37583955
20Abnormality of the intervertebral disk (HP:0005108)3.31941033
21Small epiphyses (HP:0010585)3.27271247
22Attenuation of retinal blood vessels (HP:0007843)3.20347539
23Abnormality of the renal cortex (HP:0011035)3.20105049
24Abnormality of the heme biosynthetic pathway (HP:0010472)3.16169824
25Pendular nystagmus (HP:0012043)2.96730957
26Abnormality of the renal medulla (HP:0100957)2.93298605
27Tubular atrophy (HP:0000092)2.89392457
28Hypochromic microcytic anemia (HP:0004840)2.84030522
29Medial flaring of the eyebrow (HP:0010747)2.82728197
30Recurrent viral infections (HP:0004429)2.81713700
31Abnormal biliary tract physiology (HP:0012439)2.81056007
32Bile duct proliferation (HP:0001408)2.81056007
33Cystic liver disease (HP:0006706)2.79499925
34Verrucae (HP:0200043)2.79231655
35Papilloma (HP:0012740)2.79231655
36Abnormal rod and cone electroretinograms (HP:0008323)2.78048161
37Cerebellar dysplasia (HP:0007033)2.77645280
38B lymphocytopenia (HP:0010976)2.77173042
39Abnormality of B cell number (HP:0010975)2.77173042
40Abnormality of T cells (HP:0002843)2.76263952
41Genetic anticipation (HP:0003743)2.66643885
42Long eyelashes (HP:0000527)2.65183268
43Cellulitis (HP:0100658)2.64291710
44Polydipsia (HP:0001959)2.60635182
45Abnormal drinking behavior (HP:0030082)2.60635182
46Chronic hepatic failure (HP:0100626)2.59994998
47Recurrent bronchitis (HP:0002837)2.58772050
48Large for gestational age (HP:0001520)2.56136506
49Skin tags (HP:0010609)2.54963387
50Ulnar bowing (HP:0003031)2.54402022
51Gaze-evoked nystagmus (HP:0000640)2.54100681
52Renal duplication (HP:0000075)2.50839001
53Abolished electroretinogram (ERG) (HP:0000550)2.50110515
54Agammaglobulinemia (HP:0004432)2.46097367
55Renal cortical cysts (HP:0000803)2.44936529
56Basal cell carcinoma (HP:0002671)2.42809575
57Reticulocytosis (HP:0001923)2.41687721
58Acanthocytosis (HP:0001927)2.40875968
59Inability to walk (HP:0002540)2.40212476
60Panhypogammaglobulinemia (HP:0003139)2.38912914
61Pustule (HP:0200039)2.36862192
62IgM deficiency (HP:0002850)2.35225205
63Decreased central vision (HP:0007663)2.34598079
64* Rib fusion (HP:0000902)2.34447613
65Preauricular skin tag (HP:0000384)2.34146673
66Anal stenosis (HP:0002025)2.32746621
67Lissencephaly (HP:0001339)2.32640476
68Increased CSF lactate (HP:0002490)2.32561831
69Decreased circulating renin level (HP:0003351)2.31629554
70Leukocytosis (HP:0001974)2.31106655
71Polyuria (HP:0000103)2.31053317
72Intestinal fistula (HP:0100819)2.30980877
73Recurrent fungal infections (HP:0002841)2.30702793
74Gait imbalance (HP:0002141)2.30300223
75Methylmalonic aciduria (HP:0012120)2.29749500
76Broad palm (HP:0001169)2.29634891
77Abnormality of eosinophils (HP:0001879)2.29181437
78Progressive inability to walk (HP:0002505)2.27610709
79Mitochondrial inheritance (HP:0001427)2.26968391
80Prominent nose (HP:0000448)2.26952058
81Granulocytopenia (HP:0001913)2.26337247
82Hemiparesis (HP:0001269)2.26146346
83Autoimmune thrombocytopenia (HP:0001973)2.26044096
84Severe muscular hypotonia (HP:0006829)2.25579981
85Congenital primary aphakia (HP:0007707)2.25396731
86Methylmalonic acidemia (HP:0002912)2.24681671
87Hypoplastic ischia (HP:0003175)2.23786688
88Abnormal vertebral ossification (HP:0100569)2.23578594
89Sclerocornea (HP:0000647)2.23547100
90Eosinophilia (HP:0001880)2.22004447
91Furrowed tongue (HP:0000221)2.21894852
92Abnormal foot bone ossification (HP:0010675)2.21160657
93Deviation of the thumb (HP:0009603)2.20824405
94Retinal dysplasia (HP:0007973)2.18576483
95Hypochromic anemia (HP:0001931)2.17394000
96Dynein arm defect of respiratory motile cilia (HP:0012255)2.16398028
97Absent/shortened dynein arms (HP:0200106)2.16398028
98Congenital hepatic fibrosis (HP:0002612)2.15011680
99Short 5th finger (HP:0009237)2.14186743
100Proximal placement of thumb (HP:0009623)2.13591005
101Limited elbow extension (HP:0001377)2.13574972
102Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.10879147
103Absent epiphyses (HP:0010577)2.10879147
104Progressive cerebellar ataxia (HP:0002073)2.09845543
105Pachygyria (HP:0001302)2.09783418
106Congenital, generalized hypertrichosis (HP:0004540)2.09699831
107Decreased electroretinogram (ERG) amplitude (HP:0000654)2.09275499
108Mesangial abnormality (HP:0001966)2.08851227
109Abnormality of reticulocytes (HP:0004312)2.08115856
110Ketosis (HP:0001946)2.07658432
111Increased corneal curvature (HP:0100692)2.07185101
112Keratoconus (HP:0000563)2.07185101
113Broad-based gait (HP:0002136)2.06842432
114Acute necrotizing encephalopathy (HP:0006965)2.05191588
115Vertebral arch anomaly (HP:0008438)2.03455176
116Insomnia (HP:0100785)2.03005502
1173-Methylglutaconic aciduria (HP:0003535)2.02982259
118Hypoplasia of the fovea (HP:0007750)2.02365173
119Aplasia/Hypoplasia of the fovea (HP:0008060)2.02365173
120Irregular epiphyses (HP:0010582)2.01496148
121Nasal polyposis (HP:0100582)2.00160045
122Aplasia/Hypoplasia of the 5th finger (HP:0006262)2.00078771
123Supernumerary ribs (HP:0005815)2.00048900
124IgG deficiency (HP:0004315)1.98174626
125Nephrogenic diabetes insipidus (HP:0009806)1.97475104
126Aplasia/Hypoplasia of the spleen (HP:0010451)1.96941771
127Microtia (HP:0008551)1.96066620
128Bony spicule pigmentary retinopathy (HP:0007737)1.95603280
129Carpal bone hypoplasia (HP:0001498)1.95354115
130Absent rod-and cone-mediated responses on ERG (HP:0007688)1.95177313
131Male pseudohermaphroditism (HP:0000037)1.95162108
132Anencephaly (HP:0002323)1.93723076
133Hypoplasia of the capital femoral epiphysis (HP:0003090)1.93721601
134Ketoacidosis (HP:0001993)1.93523355
135Hyperacusis (HP:0010780)1.93055930
136Progressive microcephaly (HP:0000253)1.92981709
137Lipid accumulation in hepatocytes (HP:0006561)1.92792930
138Stomach cancer (HP:0012126)1.92556719
139Aplasia/Hypoplasia of the patella (HP:0006498)1.92546697
140Patellar aplasia (HP:0006443)1.92275938
141Heterotopia (HP:0002282)1.92274439
142Broad thumb (HP:0011304)1.91949389
143Aplasia/hypoplasia of the uterus (HP:0008684)1.91330866
144Optic disc pallor (HP:0000543)1.91312375
145Flattened epiphyses (HP:0003071)1.91122026
146Acute encephalopathy (HP:0006846)1.89244294
147Abnormal albumin level (HP:0012116)1.88723001
148Hypoalbuminemia (HP:0003073)1.88723001
149Clumsiness (HP:0002312)1.88580656
150Gastrointestinal inflammation (HP:0004386)1.85331723
151Hyperglycinemia (HP:0002154)1.85207596
152Long palpebral fissure (HP:0000637)1.84228674
153Abnormal urine output (HP:0012590)1.83847819
154Abnormality of vitamin B metabolism (HP:0004340)1.83746389
155Abnormal mitochondria in muscle tissue (HP:0008316)1.83737388
156Disproportionate short-trunk short stature (HP:0003521)1.82951981
157Occipital encephalocele (HP:0002085)1.82913843
158Aplasia/Hypoplasia of the tongue (HP:0010295)1.82312669
159Hypoplasia of the pons (HP:0012110)1.81676249
160Abnormality of the pons (HP:0007361)1.81355444
161Tachypnea (HP:0002789)1.80757974
162Meningitis (HP:0001287)1.80699029
163Protruding tongue (HP:0010808)1.79973561
164Retinitis pigmentosa (HP:0000510)1.79394031
165Increased serum lactate (HP:0002151)1.79324875
166Aplasia/Hypoplasia of the pubic bone (HP:0009104)1.78514619
167Epiphyseal dysplasia (HP:0002656)1.78085234
168Broad phalanges of the hand (HP:0009768)1.78061877
169Abnormal respiratory epithelium morphology (HP:0012253)1.77969278
170Abnormal respiratory motile cilium morphology (HP:0005938)1.77969278
171Hepatic necrosis (HP:0002605)1.77354084
172Lymphoma (HP:0002665)1.76912479
173Supernumerary bones of the axial skeleton (HP:0009144)1.76150424
174Depressed nasal tip (HP:0000437)1.74819350
175Deep palmar crease (HP:0006191)1.74284498
176Cafe-au-lait spot (HP:0000957)1.73652740
177Abnormality of the ischium (HP:0003174)1.73088325
178Prolonged bleeding time (HP:0003010)1.72302444
179Abnormal tarsal ossification (HP:0008369)1.70439694
180Ectopic kidney (HP:0000086)1.68274782
181Abnormality of endocrine pancreas physiology (HP:0012093)1.68162650
182Abnormality of the pancreatic islet cells (HP:0006476)1.68162650
183Abnormal number of incisors (HP:0011064)1.67540169
184Missing ribs (HP:0000921)1.67438228
185IgA deficiency (HP:0002720)1.66634703
186Broad phalanx (HP:0006009)1.66522719
187Disproportionate tall stature (HP:0001519)1.66257917
188Recurrent cutaneous fungal infections (HP:0011370)1.64314601
189Chronic mucocutaneous candidiasis (HP:0002728)1.64314601
190Long clavicles (HP:0000890)1.64064367
191Inflammation of the large intestine (HP:0002037)1.62849471
192Deep philtrum (HP:0002002)1.61914140
193Stomatitis (HP:0010280)1.59346287
194Short 4th metacarpal (HP:0010044)1.58740124
195Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)1.58740124
196Recurrent sinusitis (HP:0011108)1.57719644

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK4.90329603
2LATS24.73693673
3MAP3K104.35699354
4CDK124.33448460
5MAP4K13.66378802
6ADRBK23.42687145
7MAP4K23.28570127
8BMPR1B3.12566603
9GRK13.03460637
10GRK62.74916077
11WNK42.59271654
12BRD42.48861076
13CASK2.43521333
14TAOK32.33321117
15NUAK12.28272269
16STK102.24145378
17EEF2K2.22803556
18ERN12.22086728
19WNK32.21032536
20STK42.05738268
21ACVR1B2.03278237
22TYK21.98708781
23DAPK21.97067562
24TLK11.95265171
25CDC71.93420772
26PINK11.88294720
27MAPK131.87183753
28MAP3K41.82796792
29SIK21.73225953
30ITK1.70094276
31BCKDK1.68540628
32INSRR1.62136641
33OXSR11.59477356
34PIM11.45971479
35CDK41.42469468
36TXK1.40226244
37NEK21.40073158
38VRK21.37397858
39MUSK1.37276593
40ADRBK11.33175995
41NLK1.30332955
42CDK61.30145160
43BTK1.25749067
44CSF1R1.25738739
45MAPK111.23419366
46SYK1.20553693
47PAK31.18739223
48TRIB31.18209554
49MARK31.17461413
50MAP2K61.15146009
51CSK1.14504173
52ALK1.14391416
53MAP3K81.14358957
54MAP2K71.14334320
55DYRK1B1.12728824
56CAMKK21.11331831
57TSSK61.09645730
58EIF2AK11.04099164
59PASK1.03673248
60DYRK21.03600533
61STK38L1.02101887
62MAP2K21.01418920
63EPHA20.99848634
64CLK10.99674235
65CSNK1G30.99489479
66TRIM280.99401251
67MAPKAPK30.99222174
68STK390.99049936
69HCK0.98802215
70RPS6KA50.98749716
71CHEK10.98675667
72CSNK1G20.97413037
73TGFBR10.97329308
74TTN0.96137322
75PHKG10.95862484
76PHKG20.95862484
77BUB10.95406128
78VRK10.95282917
79PRKCG0.94914995
80PRKCE0.94684427
81CSNK1G10.91937784
82SRPK10.91811517
83FGFR40.91285124
84LRRK20.89251859
85DYRK30.88636840
86MARK10.88079846
87MKNK20.87772752
88LCK0.87103346
89MAP2K30.85707446
90MTOR0.84927225
91RPS6KA40.83209707
92JAK20.79831512
93CSNK1A1L0.79544134
94NME10.78512687
95CDK80.78369103
96SIK10.77446381
97RPS6KB20.75695833
98ZAP700.75617822
99JAK10.75344568
100MAPK70.74361472
101ATR0.73684783
102MAPK150.73348016
103PAK40.72073428
104PRKCI0.70642145
105CAMK1D0.70576074
106ATM0.70430234
107IKBKE0.70224656
108CDK90.69839389
109PTK2B0.68575458
110HIPK20.67986090
111PKN20.67806310
112TAF10.67416743
113FGFR30.67331694
114CDK70.67161076
115MST40.66890327
116CHEK20.66078352
117RIPK40.63689331
118TNK20.62891901
119MELK0.60899442
120CDK20.59622667
121PLK20.58678866
122LIMK10.58476072
123LYN0.58251880
124PRKCQ0.58137776
125TEC0.57471969
126CAMK1G0.56189197
127AURKB0.55939666
128TNIK0.54966280
129ICK0.54119517
130TIE10.53992442
131JAK30.53172750
132MAP3K70.52208490
133MAPKAPK50.49235761
134MAP2K10.49235620
135IKBKB0.47072554
136BMX0.46782599
137SGK30.46318255
138TTK0.46138724
139FLT30.45966615
140TGFBR20.45259378
141GRK50.45251220
142CDK10.45067368
143CSNK1A10.44977520
144MAP3K30.44918553
145CSNK1D0.44417644
146PRKCH0.44411007
147STK110.44208063
148PRKD10.43904872
149PDGFRB0.43141387
150TBK10.43016317
151GRK70.41402876
152YES10.41157543
153PAK10.39800791
154ZAK0.39696549
155KIT0.39646985
156IRAK40.39238086
157PRKCA0.38691641
158PRKACA0.38360712
159PRKAA20.38203698
160PLK40.37482456
161CAMK2A0.36600060
162PRKCZ0.36529895
163CHUK0.35770837
164PRKDC0.34788890
165TESK20.34478402
166MAPK10.34139360
167CDK190.33140486
168WNK10.32131653
169PRKAA10.32072600
170STK30.31909116
171MAPK80.31438553
172MAPK120.31079897
173NTRK30.30442614
174PLK10.30280376
175BCR0.29430240
176IRAK10.29223723
177CAMK10.27911638
178EPHA40.26916417
179DAPK10.25686299
180MKNK10.24610573

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary immunodeficiency_Homo sapiens_hsa053404.18889052
2Systemic lupus erythematosus_Homo sapiens_hsa053222.95717173
3Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.94334286
4B cell receptor signaling pathway_Homo sapiens_hsa046622.82252399
5Linoleic acid metabolism_Homo sapiens_hsa005912.77748162
6Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.70610360
7alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.68135595
8Phototransduction_Homo sapiens_hsa047442.56045905
9T cell receptor signaling pathway_Homo sapiens_hsa046602.41610105
10Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.39841039
11Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.38962961
12Butanoate metabolism_Homo sapiens_hsa006502.34280044
13Non-homologous end-joining_Homo sapiens_hsa034502.24658811
14Spliceosome_Homo sapiens_hsa030402.24028174
15Nitrogen metabolism_Homo sapiens_hsa009102.19025341
16Maturity onset diabetes of the young_Homo sapiens_hsa049502.13319484
17Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.11840641
18Ether lipid metabolism_Homo sapiens_hsa005652.07829773
19Oxidative phosphorylation_Homo sapiens_hsa001902.07222089
20Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.93989471
21DNA replication_Homo sapiens_hsa030301.90946510
22Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.90644720
23Notch signaling pathway_Homo sapiens_hsa043301.85565602
24Mismatch repair_Homo sapiens_hsa034301.83455866
25Caffeine metabolism_Homo sapiens_hsa002321.79109466
26Cell cycle_Homo sapiens_hsa041101.77218335
27Lysine degradation_Homo sapiens_hsa003101.76702312
28Hematopoietic cell lineage_Homo sapiens_hsa046401.75924263
29Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.74407725
30Base excision repair_Homo sapiens_hsa034101.70606817
31Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.66953779
32Protein export_Homo sapiens_hsa030601.66222783
33NF-kappa B signaling pathway_Homo sapiens_hsa040641.64916357
34Tryptophan metabolism_Homo sapiens_hsa003801.63811043
35Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.62343798
36Acute myeloid leukemia_Homo sapiens_hsa052211.61331622
37Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.60365565
38Basal transcription factors_Homo sapiens_hsa030221.57796027
39Chronic myeloid leukemia_Homo sapiens_hsa052201.56933849
40Nicotine addiction_Homo sapiens_hsa050331.55137468
41Parkinsons disease_Homo sapiens_hsa050121.53118078
42mRNA surveillance pathway_Homo sapiens_hsa030151.51526783
43Osteoclast differentiation_Homo sapiens_hsa043801.51200445
44RNA transport_Homo sapiens_hsa030131.49738417
45Measles_Homo sapiens_hsa051621.48073055
46Viral carcinogenesis_Homo sapiens_hsa052031.46964727
47Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.46064174
48HTLV-I infection_Homo sapiens_hsa051661.45426671
49RNA polymerase_Homo sapiens_hsa030201.45231383
50Basal cell carcinoma_Homo sapiens_hsa052171.44496352
51Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.41960578
52Herpes simplex infection_Homo sapiens_hsa051681.41039883
53Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.40570481
54One carbon pool by folate_Homo sapiens_hsa006701.38699094
55Intestinal immune network for IgA production_Homo sapiens_hsa046721.37272519
56Transcriptional misregulation in cancer_Homo sapiens_hsa052021.37250827
57Primary bile acid biosynthesis_Homo sapiens_hsa001201.33184340
58Non-small cell lung cancer_Homo sapiens_hsa052231.31504088
59Taste transduction_Homo sapiens_hsa047421.31388282
60p53 signaling pathway_Homo sapiens_hsa041151.29151649
61Arachidonic acid metabolism_Homo sapiens_hsa005901.28574259
62Antigen processing and presentation_Homo sapiens_hsa046121.26041511
63Peroxisome_Homo sapiens_hsa041461.25639999
64Cyanoamino acid metabolism_Homo sapiens_hsa004601.25438638
65Asthma_Homo sapiens_hsa053101.24903316
66MicroRNAs in cancer_Homo sapiens_hsa052061.24797871
67Hepatitis B_Homo sapiens_hsa051611.23451207
68Alcoholism_Homo sapiens_hsa050341.22511983
69Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.22282966
70Sulfur relay system_Homo sapiens_hsa041221.21378540
71Pancreatic cancer_Homo sapiens_hsa052121.19242369
72Propanoate metabolism_Homo sapiens_hsa006401.17214058
73Steroid hormone biosynthesis_Homo sapiens_hsa001401.14137482
74Sulfur metabolism_Homo sapiens_hsa009201.13060415
75Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.12472403
76Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.08262783
77Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.07959850
78Regulation of autophagy_Homo sapiens_hsa041401.06220788
79Jak-STAT signaling pathway_Homo sapiens_hsa046301.04740010
80Apoptosis_Homo sapiens_hsa042101.04576250
81Leishmaniasis_Homo sapiens_hsa051401.04311850
82Colorectal cancer_Homo sapiens_hsa052101.04060753
83Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.04023570
84RNA degradation_Homo sapiens_hsa030181.03147279
85Type I diabetes mellitus_Homo sapiens_hsa049401.02924798
86Selenocompound metabolism_Homo sapiens_hsa004501.02750848
87Fanconi anemia pathway_Homo sapiens_hsa034601.02387936
88Olfactory transduction_Homo sapiens_hsa047401.00583597
89Fat digestion and absorption_Homo sapiens_hsa049750.99028175
90Chemical carcinogenesis_Homo sapiens_hsa052040.98016862
91Adherens junction_Homo sapiens_hsa045200.96843534
92mTOR signaling pathway_Homo sapiens_hsa041500.95546511
93Huntingtons disease_Homo sapiens_hsa050160.95237176
94Ribosome_Homo sapiens_hsa030100.94714161
95Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.93354531
96Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.91997470
97Morphine addiction_Homo sapiens_hsa050320.91019233
98Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.90901665
99Viral myocarditis_Homo sapiens_hsa054160.89642583
100Insulin resistance_Homo sapiens_hsa049310.88736514
101Alzheimers disease_Homo sapiens_hsa050100.87781444
102VEGF signaling pathway_Homo sapiens_hsa043700.87558527
103FoxO signaling pathway_Homo sapiens_hsa040680.86587217
104Chemokine signaling pathway_Homo sapiens_hsa040620.86287422
105Epstein-Barr virus infection_Homo sapiens_hsa051690.85291750
106Prostate cancer_Homo sapiens_hsa052150.82661339
107Homologous recombination_Homo sapiens_hsa034400.82279207
108Leukocyte transendothelial migration_Homo sapiens_hsa046700.82086393
109Malaria_Homo sapiens_hsa051440.81954986
110Thyroid cancer_Homo sapiens_hsa052160.81534247
111Small cell lung cancer_Homo sapiens_hsa052220.79991691
112Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.79526516
113Allograft rejection_Homo sapiens_hsa053300.79503493
114Cardiac muscle contraction_Homo sapiens_hsa042600.78577635
115Collecting duct acid secretion_Homo sapiens_hsa049660.78318075
116Wnt signaling pathway_Homo sapiens_hsa043100.78132222
117Endometrial cancer_Homo sapiens_hsa052130.77542877
118Bladder cancer_Homo sapiens_hsa052190.77393278
119Purine metabolism_Homo sapiens_hsa002300.76474650
120Pathways in cancer_Homo sapiens_hsa052000.75288812
121Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.72622618
122Influenza A_Homo sapiens_hsa051640.71785308
123Ovarian steroidogenesis_Homo sapiens_hsa049130.71244362
124Insulin secretion_Homo sapiens_hsa049110.71154609
125Proteoglycans in cancer_Homo sapiens_hsa052050.70759111
126Metabolic pathways_Homo sapiens_hsa011000.70652899
127Hedgehog signaling pathway_Homo sapiens_hsa043400.67832050
128Serotonergic synapse_Homo sapiens_hsa047260.67523911
129Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.67082557
130Autoimmune thyroid disease_Homo sapiens_hsa053200.66510599
131Steroid biosynthesis_Homo sapiens_hsa001000.64751109
132Neurotrophin signaling pathway_Homo sapiens_hsa047220.64493188
133Circadian entrainment_Homo sapiens_hsa047130.61982220
134Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.61382204
135Platelet activation_Homo sapiens_hsa046110.60335329
136Nucleotide excision repair_Homo sapiens_hsa034200.59518364
137Glutamatergic synapse_Homo sapiens_hsa047240.59210645
138SNARE interactions in vesicular transport_Homo sapiens_hsa041300.58681264
139Graft-versus-host disease_Homo sapiens_hsa053320.58677406
140MAPK signaling pathway_Homo sapiens_hsa040100.58592192
141Calcium signaling pathway_Homo sapiens_hsa040200.57628612
142Glycerolipid metabolism_Homo sapiens_hsa005610.56727041
143Circadian rhythm_Homo sapiens_hsa047100.56098285
144NOD-like receptor signaling pathway_Homo sapiens_hsa046210.55353441
145Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.54630739
146RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.54224589
147Cysteine and methionine metabolism_Homo sapiens_hsa002700.53562469
148Melanoma_Homo sapiens_hsa052180.53449458
149Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.52663930
150GABAergic synapse_Homo sapiens_hsa047270.52551502
151Toxoplasmosis_Homo sapiens_hsa051450.51874234
152Renal cell carcinoma_Homo sapiens_hsa052110.50602317
153Pyrimidine metabolism_Homo sapiens_hsa002400.50367540
154Glycerophospholipid metabolism_Homo sapiens_hsa005640.50246484
155Glioma_Homo sapiens_hsa052140.49884270
156Salivary secretion_Homo sapiens_hsa049700.49365276
157Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.49150094
158PI3K-Akt signaling pathway_Homo sapiens_hsa041510.48482906
159Mineral absorption_Homo sapiens_hsa049780.47511607
160ABC transporters_Homo sapiens_hsa020100.47414351
161Dorso-ventral axis formation_Homo sapiens_hsa043200.46703006
162Regulation of actin cytoskeleton_Homo sapiens_hsa048100.45977155
163Long-term depression_Homo sapiens_hsa047300.45211388
164Shigellosis_Homo sapiens_hsa051310.45068160
165Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.44873872
166Retinol metabolism_Homo sapiens_hsa008300.44009716
167Hippo signaling pathway_Homo sapiens_hsa043900.43089874
168Pentose and glucuronate interconversions_Homo sapiens_hsa000400.42215412
169AMPK signaling pathway_Homo sapiens_hsa041520.42001311
170Proteasome_Homo sapiens_hsa030500.41824460
171Prolactin signaling pathway_Homo sapiens_hsa049170.41564955
172Histidine metabolism_Homo sapiens_hsa003400.40664723
173Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.40029986
174Rheumatoid arthritis_Homo sapiens_hsa053230.39659720
175Toll-like receptor signaling pathway_Homo sapiens_hsa046200.39191029
176Vitamin digestion and absorption_Homo sapiens_hsa049770.39149966
177Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.38635100
178HIF-1 signaling pathway_Homo sapiens_hsa040660.38517939
179Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.38271809
180Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.37416726
181Central carbon metabolism in cancer_Homo sapiens_hsa052300.37301014
182Glycosaminoglycan degradation_Homo sapiens_hsa005310.34545265
183Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.33503607
184beta-Alanine metabolism_Homo sapiens_hsa004100.33331366
185Dopaminergic synapse_Homo sapiens_hsa047280.33283557

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