B4GALT4

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 one of seven beta-1,4-galactosyltransferase (beta4GalT) genes. They encode type II membrane-bound glycoproteins that appear to have exclusive specificity for the donor substrate UDP-galactose; all transfer galactose in a beta1,4 linkage to similar acceptor sugars: GlcNAc, Glc, and Xyl. Each beta4GalT has a distinct function in the biosynthesis of different glycoconjugates and saccharide structures. As type II membrane proteins, they have an N-terminal hydrophobic signal sequence that directs the protein to the Golgi apparatus and which then remains uncleaved to function as a transmembrane anchor. By sequence similarity, the beta4GalTs form four groups: beta4GalT1 and beta4GalT2, beta4GalT3 and beta4GalT4, beta4GalT5 and beta4GalT6, and beta4GalT7. The enzyme encoded by this gene appears to mainly play a role in glycolipid biosynthesis. Two alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1purine ribonucleotide transport (GO:0015868)6.81437962
2nucleotide transmembrane transport (GO:1901679)6.54978731
3heme transport (GO:0015886)6.38856747
4protein retention in ER lumen (GO:0006621)5.73676996
5adenine nucleotide transport (GO:0051503)5.71811232
6fucose catabolic process (GO:0019317)5.69074169
7L-fucose metabolic process (GO:0042354)5.69074169
8L-fucose catabolic process (GO:0042355)5.69074169
9exocrine pancreas development (GO:0031017)5.49992461
10maintenance of protein localization in endoplasmic reticulum (GO:0035437)5.38119534
11purine nucleotide transport (GO:0015865)4.83634451
12digestion (GO:0007586)4.80678845
13regulation of female gonad development (GO:2000194)4.78952532
14phosphatidylglycerol acyl-chain remodeling (GO:0036148)4.78289726
15cofactor transport (GO:0051181)4.62142343
16polarized epithelial cell differentiation (GO:0030859)4.55370721
17nucleoside transmembrane transport (GO:1901642)4.51863074
18organic cation transport (GO:0015695)4.42626146
19iron coordination entity transport (GO:1901678)4.34132665
20transcytosis (GO:0045056)4.28291367
21surfactant homeostasis (GO:0043129)4.19438673
22fucose metabolic process (GO:0006004)4.14858505
23definitive hemopoiesis (GO:0060216)4.08173658
24N-glycan processing (GO:0006491)3.97839458
25regulation of phospholipid biosynthetic process (GO:0071071)3.96705655
26endothelium development (GO:0003158)3.84897146
27nucleotide transport (GO:0006862)3.73400292
28folic acid transport (GO:0015884)3.71304551
29phosphatidylcholine acyl-chain remodeling (GO:0036151)3.70216023
30nucleoside transport (GO:0015858)3.66633810
31regulation of mesoderm development (GO:2000380)3.65985562
32chemical homeostasis within a tissue (GO:0048875)3.64692138
33DNA damage induced protein phosphorylation (GO:0006975)3.63764647
34blood vessel maturation (GO:0001955)3.61569233
35lymph vessel development (GO:0001945)3.59515720
36notochord development (GO:0030903)3.58546501
37regulation of hippo signaling (GO:0035330)3.57864703
38gap junction assembly (GO:0016264)3.56826842
39COPII vesicle coating (GO:0048208)3.56800929
40telomere maintenance via telomerase (GO:0007004)3.55447817
41negative regulation of erythrocyte differentiation (GO:0045647)3.55004458
42fucosylation (GO:0036065)3.54613982
43anterior/posterior axis specification, embryo (GO:0008595)3.43362925
44somite rostral/caudal axis specification (GO:0032525)3.37957172
45sequestering of extracellular ligand from receptor (GO:0035581)3.37512181
46signal transduction involved in regulation of gene expression (GO:0023019)3.36784625
47intestinal epithelial cell development (GO:0060576)3.36317396
48negative regulation of telomerase activity (GO:0051974)3.35480862
49negative regulation of type 2 immune response (GO:0002829)3.32372497
50intestinal cholesterol absorption (GO:0030299)3.29953250
51negative regulation of hormone biosynthetic process (GO:0032353)3.27166793
52negative regulation of hormone metabolic process (GO:0032351)3.27166793
53positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.25800744
54keratinocyte development (GO:0003334)3.24742933
55hepatocyte apoptotic process (GO:0097284)3.24107819
56female gonad development (GO:0008585)3.22579085
57regulation of isotype switching to IgG isotypes (GO:0048302)3.22445773
58COPI coating of Golgi vesicle (GO:0048205)3.21878577
59Golgi transport vesicle coating (GO:0048200)3.21878577
60myoblast migration (GO:0051451)3.20271154
61regulation of posttranscriptional gene silencing (GO:0060147)3.20131049
62regulation of gene silencing by miRNA (GO:0060964)3.20131049
63regulation of gene silencing by RNA (GO:0060966)3.20131049
64negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)3.18640827
65establishment of nucleus localization (GO:0040023)3.15672350
66regulation of type B pancreatic cell apoptotic process (GO:2000674)3.15231583
67antigen processing and presentation via MHC class Ib (GO:0002475)3.11819092
68mitochondrial calcium ion transport (GO:0006851)3.11661250
69sulfation (GO:0051923)3.07109242
70generation of neurons (GO:0048699)3.05186413
71regulation of cytokine secretion involved in immune response (GO:0002739)3.04849331
72axonemal dynein complex assembly (GO:0070286)3.03237375
73platelet dense granule organization (GO:0060155)3.03049895
74positive regulation of granulocyte differentiation (GO:0030854)2.99849592
75positive regulation of heterotypic cell-cell adhesion (GO:0034116)2.97482340
76negative regulation of homotypic cell-cell adhesion (GO:0034111)2.97111485
77nodal signaling pathway (GO:0038092)2.96940724
78response to interferon-beta (GO:0035456)2.96116047
79regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)2.95613216
80phospholipid efflux (GO:0033700)2.93205522
81drug transport (GO:0015893)2.92750990
82angiogenesis involved in wound healing (GO:0060055)2.91463624
83L-ascorbic acid metabolic process (GO:0019852)2.91316490
84substrate-dependent cell migration (GO:0006929)2.90071901
85glucuronate metabolic process (GO:0019585)2.89615074
86uronic acid metabolic process (GO:0006063)2.89615074
87cobalamin metabolic process (GO:0009235)2.89608835
88lactate metabolic process (GO:0006089)2.89353035
89folic acid-containing compound biosynthetic process (GO:0009396)2.88472056
90monoubiquitinated protein deubiquitination (GO:0035520)2.87486474
91positive regulation of protein autophosphorylation (GO:0031954)2.86832035
92negative regulation of keratinocyte proliferation (GO:0010839)2.84879059
93cellular glucuronidation (GO:0052695)2.84773055
94cilium or flagellum-dependent cell motility (GO:0001539)2.83886319
95peptide catabolic process (GO:0043171)2.83445234
96regulation of acrosome reaction (GO:0060046)2.83098950
97phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)2.83090011
98positive regulation of glycoprotein biosynthetic process (GO:0010560)2.82536862
99fibroblast migration (GO:0010761)2.81703459
100negative regulation of alcohol biosynthetic process (GO:1902931)2.81327371
101plasma lipoprotein particle assembly (GO:0034377)2.81129753
102pericardium development (GO:0060039)2.79523641
103secretory granule organization (GO:0033363)2.78968059
104vitamin transmembrane transport (GO:0035461)2.77911804
105regulation of histone H3-K27 methylation (GO:0061085)2.77892688
106negative regulation of organ growth (GO:0046621)2.77397546
107serine family amino acid biosynthetic process (GO:0009070)2.76066908
108protein K63-linked deubiquitination (GO:0070536)2.74852876
109drug catabolic process (GO:0042737)2.74764569
110cellular response to hepatocyte growth factor stimulus (GO:0035729)2.74565143
111response to hepatocyte growth factor (GO:0035728)2.74565143
112mitotic cell cycle arrest (GO:0071850)2.73179030
113positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)2.72478837
114lateral sprouting from an epithelium (GO:0060601)2.71882079
115establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)2.71038777
116regulation of secondary heart field cardioblast proliferation (GO:0003266)2.70522973
117regulation of cardioblast proliferation (GO:0003264)2.70522973
118multicellular organism reproduction (GO:0032504)2.70037873
119embryonic pattern specification (GO:0009880)2.69503287
120embryonic axis specification (GO:0000578)2.68198129
121histamine secretion (GO:0001821)2.67680642
122regulation of cardioblast differentiation (GO:0051890)2.67564446
123female gamete generation (GO:0007292)2.67243333
124ribosomal small subunit assembly (GO:0000028)2.66871316
125bundle of His cell to Purkinje myocyte communication (GO:0086069)2.66256477
126regulation of Cdc42 GTPase activity (GO:0043088)2.64364414
127cell migration involved in gastrulation (GO:0042074)2.64314399
128positive regulation of vasculogenesis (GO:2001214)2.64292772
129UDP-N-acetylglucosamine metabolic process (GO:0006047)2.63701699
130positive regulation of B cell differentiation (GO:0045579)2.61916558
131regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.61694998
132vitamin transport (GO:0051180)2.61537001
133neuron remodeling (GO:0016322)2.60962311
134galactose catabolic process (GO:0019388)2.60869672
135glycerophospholipid catabolic process (GO:0046475)2.60474382
136relaxation of cardiac muscle (GO:0055119)2.60232776
137regulation of steroid hormone biosynthetic process (GO:0090030)2.59909078
138epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.59761208
139phosphatidylinositol acyl-chain remodeling (GO:0036149)2.59274021
140megakaryocyte development (GO:0035855)2.58448521
141antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.58310537
142exogenous drug catabolic process (GO:0042738)2.57536156
143regulation of gastrulation (GO:0010470)2.57366282
144regulation of protein glycosylation (GO:0060049)2.57242696
145sterol catabolic process (GO:0016127)2.57216092
146cholesterol catabolic process (GO:0006707)2.57216092
147potassium ion export (GO:0071435)2.55891119
148regulation of RIG-I signaling pathway (GO:0039535)2.55440472
149positive regulation of T-helper 1 type immune response (GO:0002827)2.55411108
150embryonic foregut morphogenesis (GO:0048617)2.55396086
151epoxygenase P450 pathway (GO:0019373)2.55348645
152neutrophil mediated immunity (GO:0002446)2.55044098
153lymphoid progenitor cell differentiation (GO:0002320)2.54553339
154fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.53829289
155artery development (GO:0060840)2.53528825
156primary alcohol catabolic process (GO:0034310)2.53407945
157vascular endothelial growth factor signaling pathway (GO:0038084)2.52844134
158leukotriene biosynthetic process (GO:0019370)2.51837039
159retinoic acid metabolic process (GO:0042573)2.51482642
160cilium movement (GO:0003341)2.51166623
161establishment of protein localization to Golgi (GO:0072600)2.51077359
162endoderm formation (GO:0001706)2.50946351
163leukocyte tethering or rolling (GO:0050901)2.50777106
164positive regulation of Cdc42 GTPase activity (GO:0043089)2.50438972
165regulation of vasculogenesis (GO:2001212)2.49015845
166glutathione derivative metabolic process (GO:1901685)2.47935728
167glutathione derivative biosynthetic process (GO:1901687)2.47935728
168daunorubicin metabolic process (GO:0044597)2.47449547
169polyketide metabolic process (GO:0030638)2.47449547
170doxorubicin metabolic process (GO:0044598)2.47449547
171RNA-dependent DNA replication (GO:0006278)2.47428547
172type B pancreatic cell development (GO:0003323)2.47416210
173synapsis (GO:0007129)2.47298062
174kidney morphogenesis (GO:0060993)2.46937841
175necroptotic process (GO:0070266)2.44969589
176cellular response to zinc ion (GO:0071294)2.44567851
177negative regulation of reproductive process (GO:2000242)2.44355992
178phospholipid scrambling (GO:0017121)2.43581864
179lymphangiogenesis (GO:0001946)2.41969910
180positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.41651862
181negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)2.41481969
182positive regulation of glycoprotein metabolic process (GO:1903020)2.41117154
183toxin transport (GO:1901998)2.40973475
184regulation of glucocorticoid metabolic process (GO:0031943)2.40361956
185regulation of retinoic acid receptor signaling pathway (GO:0048385)2.38485566
186chaperone mediated protein folding requiring cofactor (GO:0051085)2.37701824
187positive regulation of megakaryocyte differentiation (GO:0045654)2.36798637
188response to interferon-alpha (GO:0035455)2.36400121
189regulation of transforming growth factor beta2 production (GO:0032909)2.36167066
190negative regulation of retinoic acid receptor signaling pathway (GO:0048387)2.35109621
191relaxation of smooth muscle (GO:0044557)2.35035541
192cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.32918341
193negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.32525286
194positive regulation of lamellipodium organization (GO:1902745)2.32460254
195regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)2.32236141
196response to nitrosative stress (GO:0051409)2.32220874
197endosome to pigment granule transport (GO:0043485)2.32202178
198endosome to melanosome transport (GO:0035646)2.32202178

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat4.19049659
2SCL_19346495_ChIP-Seq_HPC-7_Human4.18227908
3SMAD_19615063_ChIP-ChIP_OVARY_Human4.11325768
4RBPJ_22232070_ChIP-Seq_NCS_Mouse2.94592826
5STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.83642709
6GATA2_21666600_ChIP-Seq_HMVEC_Human2.80562497
7ESR1_20079471_ChIP-ChIP_T-47D_Human2.77260361
8TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.68292541
9E2F7_22180533_ChIP-Seq_HELA_Human2.65093674
10FLI1_27457419_Chip-Seq_LIVER_Mouse2.60734023
11BP1_19119308_ChIP-ChIP_Hs578T_Human2.54426815
12GBX2_23144817_ChIP-Seq_PC3_Human2.33909198
13MYB_21317192_ChIP-Seq_ERMYB_Mouse2.30645238
14* MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.29051619
15VDR_22108803_ChIP-Seq_LS180_Human2.28486047
16PCGF2_27294783_Chip-Seq_ESCs_Mouse2.25788237
17IRF8_22096565_ChIP-ChIP_GC-B_Human2.25387471
18P300_19829295_ChIP-Seq_ESCs_Human2.10144216
19HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.06367653
20ZFP57_27257070_Chip-Seq_ESCs_Mouse2.05431016
21ESR1_21235772_ChIP-Seq_MCF-7_Human2.00859106
22FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.96183576
23PCGF2_27294783_Chip-Seq_NPCs_Mouse1.96053126
24* SMAD3_21741376_ChIP-Seq_HESCs_Human1.94042600
25ZNF217_24962896_ChIP-Seq_MCF-7_Human1.92124436
26CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.88764482
27ESR2_21235772_ChIP-Seq_MCF-7_Human1.87542650
28ZNF274_21170338_ChIP-Seq_K562_Hela1.80856458
29STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.80784699
30LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.79829067
31SMAD3_21741376_ChIP-Seq_EPCs_Human1.76835316
32SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.76825259
33SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.76728994
34SOX2_20726797_ChIP-Seq_SW620_Human1.76690856
35SALL1_21062744_ChIP-ChIP_HESCs_Human1.72632663
36PIAS1_25552417_ChIP-Seq_VCAP_Human1.72397016
37CDX2_22108803_ChIP-Seq_LS180_Human1.71718699
38NRF2_20460467_ChIP-Seq_MEFs_Mouse1.70874320
39NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.70874320
40GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.69172779
41EZH2_27294783_Chip-Seq_NPCs_Mouse1.68691920
42IGF1R_20145208_ChIP-Seq_DFB_Human1.68237939
43ER_23166858_ChIP-Seq_MCF-7_Human1.66230844
44SMAD4_21741376_ChIP-Seq_EPCs_Human1.66037326
45EP300_21415370_ChIP-Seq_HL-1_Mouse1.65365729
46RUNX_20019798_ChIP-Seq_JUKART_Human1.64732291
47SUZ12_27294783_Chip-Seq_NPCs_Mouse1.62133926
48EGR1_23403033_ChIP-Seq_LIVER_Mouse1.59823605
49RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.58266196
50CTBP2_25329375_ChIP-Seq_LNCAP_Human1.54372693
51EGR1_19374776_ChIP-ChIP_THP-1_Human1.51832371
52NFE2_27457419_Chip-Seq_LIVER_Mouse1.50602779
53EZH2_22144423_ChIP-Seq_EOC_Human1.50563207
54* SMAD4_21799915_ChIP-Seq_A2780_Human1.48114198
55TCF4_22108803_ChIP-Seq_LS180_Human1.47736041
56STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.47061256
57CTBP1_25329375_ChIP-Seq_LNCAP_Human1.46817339
58* STAT3_23295773_ChIP-Seq_U87_Human1.46797089
59NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.46501536
60LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.45230977
61GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.42206660
62STAT6_21828071_ChIP-Seq_BEAS2B_Human1.41939449
63VDR_24763502_ChIP-Seq_THP-1_Human1.41073328
64TP53_16413492_ChIP-PET_HCT116_Human1.40887495
65* SMAD4_21741376_ChIP-Seq_HESCs_Human1.39302134
66PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.38688072
67CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.38564035
68EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.37574231
69MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.36915562
70TCF4_23295773_ChIP-Seq_U87_Human1.36859289
71NANOG_19829295_ChIP-Seq_ESCs_Human1.36549277
72SOX2_19829295_ChIP-Seq_ESCs_Human1.36549277
73TCF4_18268006_ChIP-ChIP_LS174T_Human1.36260133
74MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.35881696
75UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.35780447
76CBP_20019798_ChIP-Seq_JUKART_Human1.35254981
77IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.35254981
78CDX2_19796622_ChIP-Seq_MESCs_Mouse1.35069873
79FOXM1_26456572_ChIP-Seq_MCF-7_Human1.34218540
80FOXO3_23340844_ChIP-Seq_DLD1_Human1.33625370
81ARNT_22903824_ChIP-Seq_MCF-7_Human1.32118795
82CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.30985676
83MYC_22102868_ChIP-Seq_BL_Human1.30833881
84TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.29802641
85TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.29517248
86GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.28777666
87CRX_20693478_ChIP-Seq_RETINA_Mouse1.28266697
88TP63_23658742_ChIP-Seq_EP156T_Human1.28097413
89GATA1_22025678_ChIP-Seq_K562_Human1.27780158
90TP53_18474530_ChIP-ChIP_U2OS_Human1.27249377
91BRD4_25478319_ChIP-Seq_HGPS_Human1.26631261
92LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.25850162
93WT1_19549856_ChIP-ChIP_CCG9911_Human1.25786087
94IKZF1_21737484_ChIP-ChIP_HCT116_Human1.25704249
95CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.25579504
96FOXA1_25329375_ChIP-Seq_VCAP_Human1.25509255
97FOXA1_27270436_Chip-Seq_PROSTATE_Human1.25509255
98AHR_22903824_ChIP-Seq_MCF-7_Human1.24188989
99AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.22031891
100SPI1_23127762_ChIP-Seq_K562_Human1.21840271
101CDX2_20551321_ChIP-Seq_CACO-2_Human1.21790888
102KLF5_20875108_ChIP-Seq_MESCs_Mouse1.21781437
103MYB_26560356_Chip-Seq_TH2_Human1.21347385
104AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.20979738
105PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.20690312
106OCT4_21477851_ChIP-Seq_ESCs_Mouse1.20122031
107EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.20115236
108SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.17907420
109NANOG_18555785_Chip-Seq_ESCs_Mouse1.16457593
110SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.16245265
111ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.15969021
112PPAR_26484153_Chip-Seq_NCI-H1993_Human1.15940116
113* FOXA1_21572438_ChIP-Seq_LNCaP_Human1.15640422
114EOMES_21245162_ChIP-Seq_HESCs_Human1.15460343
115SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.13326076
116FUS_26573619_Chip-Seq_HEK293_Human1.13039129
117IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.11620644
118RUNX2_22187159_ChIP-Seq_PCA_Human1.11587624
119E2F1_18555785_Chip-Seq_ESCs_Mouse1.11542908
120RXR_22108803_ChIP-Seq_LS180_Human1.11500362
121MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.11330939
122AR_21909140_ChIP-Seq_LNCAP_Human1.11254518
123TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.11164084
124GATA4_25053715_ChIP-Seq_YYC3_Human1.10838099
125TCF7_22412390_ChIP-Seq_EML_Mouse1.10264348
126MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.09341020
127OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.08384795
128TRIM28_21343339_ChIP-Seq_HEK293_Human1.08353471
129CMYC_18555785_Chip-Seq_ESCs_Mouse1.08028891
130P53_22387025_ChIP-Seq_ESCs_Mouse1.07981299
131POU3F2_20337985_ChIP-ChIP_501MEL_Human1.07468772
132AR_20517297_ChIP-Seq_VCAP_Human1.06863094
133SUZ12_18555785_Chip-Seq_ESCs_Mouse1.06718189
134SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.05821646
135CJUN_26792858_Chip-Seq_BT549_Human1.05485604
136SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.05477810
137SALL4_18804426_ChIP-ChIP_XEN_Mouse1.05045651
138AR_25329375_ChIP-Seq_VCAP_Human1.03392732
139NR3C1_23031785_ChIP-Seq_PC12_Mouse1.01525414
140NR3C1_21868756_ChIP-Seq_MCF10A_Human1.01431261
141AR_21572438_ChIP-Seq_LNCaP_Human1.01425213
142E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.00373908
143TOP2B_26459242_ChIP-Seq_MCF-7_Human1.00319249
144ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.00039754
145SPI1_23547873_ChIP-Seq_NB4_Human0.98503381
146ERG_20517297_ChIP-Seq_VCAP_Human0.97971957
147FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.97093259
148ERG_20887958_ChIP-Seq_HPC-7_Mouse0.96571312
149YAP1_20516196_ChIP-Seq_MESCs_Mouse0.95287970
150IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.93447268
151E2F1_21310950_ChIP-Seq_MCF-7_Human0.93329362
152ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.93266480
153EWS_26573619_Chip-Seq_HEK293_Human0.91583534
154RUNX1_27514584_Chip-Seq_MCF-7_Human0.90570206
155GATA2_22383799_ChIP-Seq_G1ME_Mouse0.87975315
156CEBPB_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.87515269
157GATA1_22383799_ChIP-Seq_G1ME_Mouse0.87476995
158CTNNB1_20460455_ChIP-Seq_HCT116_Human0.86943307
159SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.86344215
160BCAT_22108803_ChIP-Seq_LS180_Human0.86150962
161TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.85987287
162SOX9_22984422_ChIP-ChIP_TESTIS_Rat0.85777039
163TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.85564404
164HOXB4_20404135_ChIP-ChIP_EML_Mouse0.85353279
165FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.84723841
166TAF15_26573619_Chip-Seq_HEK293_Human0.83863414
167SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.83503019
168* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.83088114
169SMRT_27268052_Chip-Seq_Bcells_Human0.82988723
170TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.82517412
171SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.81688067
172GFI1B_20887958_ChIP-Seq_HPC-7_Mouse0.80755748

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010368_abnormal_lymphatic_system4.84791466
2MP0003890_abnormal_embryonic-extraembry4.71363769
3MP0003195_calcinosis4.42613212
4MP0006054_spinal_hemorrhage4.12604426
5MP0002009_preneoplasia3.61598881
6MP0002254_reproductive_system_inflammat3.11002361
7MP0002396_abnormal_hematopoietic_system3.09752565
8MP0001666_abnormal_nutrient_absorption3.06848581
9MP0005085_abnormal_gallbladder_physiolo2.98751074
10MP0001879_abnormal_lymphatic_vessel2.75745070
11MP0008004_abnormal_stomach_pH2.73856691
12MP0010030_abnormal_orbit_morphology2.64629170
13MP0003941_abnormal_skin_development2.62922684
14MP0005084_abnormal_gallbladder_morpholo2.57800599
15MP0001873_stomach_inflammation2.52367322
16MP0005220_abnormal_exocrine_pancreas2.51330947
17MP0003724_increased_susceptibility_to2.49330810
18MP0002139_abnormal_hepatobiliary_system2.46566088
19MP0002138_abnormal_hepatobiliary_system2.35545631
20MP0002166_altered_tumor_susceptibility2.33998863
21MP0010234_abnormal_vibrissa_follicle2.28989273
22MP0004808_abnormal_hematopoietic_stem2.26862449
23MP0002006_tumorigenesis2.26800788
24MP0003950_abnormal_plasma_membrane2.13497128
25MP0004264_abnormal_extraembryonic_tissu2.11590362
26MP0000465_gastrointestinal_hemorrhage2.07513006
27MP0003300_gastrointestinal_ulcer2.00522125
28MP0001177_atelectasis1.97253861
29MP0000490_abnormal_crypts_of1.97054401
30MP0005083_abnormal_biliary_tract1.93929087
31MP0004147_increased_porphyrin_level1.91919033
32MP0009840_abnormal_foam_cell1.89100040
33MP0001664_abnormal_digestion1.85620627
34MP0003868_abnormal_feces_composition1.84793925
35MP0004133_heterotaxia1.82578115
36MP0000516_abnormal_urinary_system1.81136961
37MP0005367_renal/urinary_system_phenotyp1.81136961
38MP0005551_abnormal_eye_electrophysiolog1.78170578
39MP0008875_abnormal_xenobiotic_pharmacok1.74703885
40MP0005408_hypopigmentation1.72841451
41MP0002653_abnormal_ependyma_morphology1.65904909
42MP0001663_abnormal_digestive_system1.61696291
43MP0008438_abnormal_cutaneous_collagen1.60360072
44MP0009384_cardiac_valve_regurgitation1.58399527
45MP0005394_taste/olfaction_phenotype1.55464646
46MP0005499_abnormal_olfactory_system1.55464646
47MP0005646_abnormal_pituitary_gland1.54641432
48MP0009379_abnormal_foot_pigmentation1.53234390
49MP0003011_delayed_dark_adaptation1.52287090
50MP0003119_abnormal_digestive_system1.51355002
51MP0002233_abnormal_nose_morphology1.50041704
52MP0005310_abnormal_salivary_gland1.48624678
53MP0003283_abnormal_digestive_organ1.48211823
54MP0001984_abnormal_olfaction1.48149763
55MP0004019_abnormal_vitamin_homeostasis1.45249813
56MP0002332_abnormal_exercise_endurance1.44117165
57MP0002249_abnormal_larynx_morphology1.43506436
58MP0010386_abnormal_urinary_bladder1.42379749
59MP0003183_abnormal_peptide_metabolism1.40498670
60MP0003937_abnormal_limbs/digits/tail_de1.35255685
61MP0003646_muscle_fatigue1.33472977
62MP0000383_abnormal_hair_follicle1.32978222
63MP0001851_eye_inflammation1.32877581
64MP0002876_abnormal_thyroid_physiology1.31038247
65MP0000538_abnormal_urinary_bladder1.29046186
66MP0002938_white_spotting1.28902019
67MP0005165_increased_susceptibility_to1.26713075
68MP0010678_abnormal_skin_adnexa1.25715156
69MP0005360_urolithiasis1.25102280
70MP0003137_abnormal_impulse_conducting1.23464518
71MP0005174_abnormal_tail_pigmentation1.23059491
72MP0008872_abnormal_physiological_respon1.22041739
73MP0000372_irregular_coat_pigmentation1.21939793
74MP0002736_abnormal_nociception_after1.21828262
75MP0000613_abnormal_salivary_gland1.21378826
76MP0005381_digestive/alimentary_phenotyp1.21167287
77MP0003828_pulmonary_edema1.20214060
78MP0005275_abnormal_skin_tensile1.20160461
79MP0003943_abnormal_hepatobiliary_system1.19506943
80MP0005397_hematopoietic_system_phenotyp1.18287092
81MP0001545_abnormal_hematopoietic_system1.18287092
82MP0005464_abnormal_platelet_physiology1.16423082
83MP0002102_abnormal_ear_morphology1.16397521
84MP0000534_abnormal_ureter_morphology1.14602993
85MP0009278_abnormal_bone_marrow1.14547232
86MP0001293_anophthalmia1.14075193
87MP0010329_abnormal_lipoprotein_level1.13600480
88MP0003718_maternal_effect1.13113195
89MP0000427_abnormal_hair_cycle1.11216315
90MP0005332_abnormal_amino_acid1.10925927
91MP0003252_abnormal_bile_duct1.09232413
92MP0003763_abnormal_thymus_physiology1.08455936
93MP0005395_other_phenotype1.07198764
94MP0010155_abnormal_intestine_physiology1.05449793
95MP0003566_abnormal_cell_adhesion1.04957886
96MP0001270_distended_abdomen1.04172765
97MP0009780_abnormal_chondrocyte_physiolo1.01895799
98MP0010352_gastrointestinal_tract_polyps1.01170833
99MP0000767_abnormal_smooth_muscle0.98394215
100MP0000462_abnormal_digestive_system0.97678384
101MP0000537_abnormal_urethra_morphology0.95155870
102MP0002160_abnormal_reproductive_system0.94486794
103MP0001346_abnormal_lacrimal_gland0.94212255
104MP0001765_abnormal_ion_homeostasis0.93748553
105MP0004043_abnormal_pH_regulation0.93122596
106MP0003693_abnormal_embryo_hatching0.92857794
107MP0009697_abnormal_copulation0.92649674
108MP0000566_synostosis0.92570011
109MP0005187_abnormal_penis_morphology0.92542678
110MP0003866_abnormal_defecation0.92374253
111MP0001915_intracranial_hemorrhage0.91769010
112MP0006292_abnormal_olfactory_placode0.91573652
113MP0003315_abnormal_perineum_morphology0.91342234
114MP0003879_abnormal_hair_cell0.90217094
115MP0002084_abnormal_developmental_patter0.88797893
116MP0005257_abnormal_intraocular_pressure0.86869583
117MP0002168_other_aberrant_phenotype0.86770237
118MP0002277_abnormal_respiratory_mucosa0.86541692
119MP0003123_paternal_imprinting0.85586077
120MP0003699_abnormal_female_reproductive0.84708880
121MP0005167_abnormal_blood-brain_barrier0.84537685
122MP0004085_abnormal_heartbeat0.84071294
123MP0001119_abnormal_female_reproductive0.83778152
124MP0000681_abnormal_thyroid_gland0.83714416
125MP0001502_abnormal_circadian_rhythm0.83468291
126MP0003755_abnormal_palate_morphology0.83374012
127MP0001905_abnormal_dopamine_level0.83203138
128MP0004272_abnormal_basement_membrane0.81782718
129MP0005377_hearing/vestibular/ear_phenot0.81230085
130MP0003878_abnormal_ear_physiology0.81230085
131MP0003638_abnormal_response/metabolism_0.79770892
132MP0001440_abnormal_grooming_behavior0.78572371
133MP0002132_abnormal_respiratory_system0.78253494
134MP0005595_abnormal_vascular_smooth0.77690203
135MP0005365_abnormal_bile_salt0.76630707
136MP0002925_abnormal_cardiovascular_devel0.75882274
137MP0005023_abnormal_wound_healing0.75074256
138MP0002295_abnormal_pulmonary_circulatio0.74302379
139MP0009703_decreased_birth_body0.71352640
140MP0000343_altered_response_to0.70959993
141MP0002877_abnormal_melanocyte_morpholog0.69997906
142MP0001614_abnormal_blood_vessel0.69868513
143MP0003787_abnormal_imprinting0.69805500
144MP0000647_abnormal_sebaceous_gland0.69651768
145MP0001944_abnormal_pancreas_morphology0.69126334
146MP0000470_abnormal_stomach_morphology0.68812365
147MP0005410_abnormal_fertilization0.68675664
148MP0002693_abnormal_pancreas_physiology0.67838647
149MP0004484_altered_response_of0.67797747
150MP0002090_abnormal_vision0.67319000
151MP0006138_congestive_heart_failure0.67222376
152MP0004782_abnormal_surfactant_physiolog0.67210123
153MP0002133_abnormal_respiratory_system0.66813406
154MP0005388_respiratory_system_phenotype0.66813406
155MP0002095_abnormal_skin_pigmentation0.66736308
156MP0003936_abnormal_reproductive_system0.66656048
157MP0005636_abnormal_mineral_homeostasis0.66022165
158MP0003121_genomic_imprinting0.65119025
159MP0000428_abnormal_craniofacial_morphol0.64694993
160MP0005389_reproductive_system_phenotype0.64184360
161MP0008877_abnormal_DNA_methylation0.62970514
162MP0008789_abnormal_olfactory_epithelium0.62757422
163MP0000432_abnormal_head_morphology0.62652294
164MP0000678_abnormal_parathyroid_gland0.61911304
165MP0000477_abnormal_intestine_morphology0.61787954
166MP0005253_abnormal_eye_physiology0.61640025
167MP0004957_abnormal_blastocyst_morpholog0.61357490
168MP0005075_abnormal_melanosome_morpholog0.61097145
169MP0001485_abnormal_pinna_reflex0.60753567
170MP0008007_abnormal_cellular_replicative0.60115821
171MP0003075_altered_response_to0.60041581
172MP0001533_abnormal_skeleton_physiology0.59959189

Predicted human phenotypes

RankGene SetZ-score
1Thrombocytosis (HP:0001894)4.85222935
2Hypobetalipoproteinemia (HP:0003563)4.59140255
3Chronic hepatic failure (HP:0100626)4.53880740
4Arterial tortuosity (HP:0005116)4.40665597
5Aplastic anemia (HP:0001915)4.33508128
6Vascular tortuosity (HP:0004948)4.29290522
7Abnormal pancreas size (HP:0012094)4.24197758
8Myositis (HP:0100614)4.07379000
9Cortical dysplasia (HP:0002539)3.90457735
10Malnutrition (HP:0004395)3.65582224
11Spondylolisthesis (HP:0003302)3.62247816
12Papilledema (HP:0001085)3.58546613
13Male infertility (HP:0003251)3.52617535
14Aortic aneurysm (HP:0004942)3.46803381
15Hematochezia (HP:0002573)3.40957387
16Absent/shortened dynein arms (HP:0200106)3.32628884
17Dynein arm defect of respiratory motile cilia (HP:0012255)3.32628884
18Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.26195587
19Rhinitis (HP:0012384)3.23785825
20Capillary hemangiomas (HP:0005306)3.22068345
21Hypolipoproteinemia (HP:0010981)3.21275557
22Shawl scrotum (HP:0000049)3.06390695
23Decreased circulating renin level (HP:0003351)3.05379840
24Intrahepatic cholestasis (HP:0001406)3.03207462
25Lip pit (HP:0100267)2.95752078
26Abnormal respiratory motile cilium physiology (HP:0012261)2.91057624
27Papillary thyroid carcinoma (HP:0002895)2.87646644
28Abnormal respiratory epithelium morphology (HP:0012253)2.85944228
29Abnormal respiratory motile cilium morphology (HP:0005938)2.85944228
30Fatigue (HP:0012378)2.83495577
31Hypoplastic labia majora (HP:0000059)2.82936216
32Acute myeloid leukemia (HP:0004808)2.82810932
33Spontaneous hematomas (HP:0007420)2.79785082
34Abnormality of proline metabolism (HP:0010907)2.76401352
35Hydroxyprolinuria (HP:0003080)2.76401352
36Fat malabsorption (HP:0002630)2.76393328
37Bifid tongue (HP:0010297)2.75024442
38Hyperalaninemia (HP:0003348)2.73776137
39Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.73776137
40Abnormality of alanine metabolism (HP:0010916)2.73776137
41Abnormal ciliary motility (HP:0012262)2.71800384
42Aortic dissection (HP:0002647)2.70276841
43Renal cortical cysts (HP:0000803)2.69837107
44Proximal tubulopathy (HP:0000114)2.69461952
45Abnormality of the renal cortex (HP:0011035)2.65197597
46Hypothermia (HP:0002045)2.62907382
47Hypoplasia of the pons (HP:0012110)2.62901554
48Steatorrhea (HP:0002570)2.62233769
49Abnormality of macular pigmentation (HP:0008002)2.60491442
50Elevated erythrocyte sedimentation rate (HP:0003565)2.59869282
51Disproportionate short-trunk short stature (HP:0003521)2.54476688
52Rectovaginal fistula (HP:0000143)2.48695267
53Rectal fistula (HP:0100590)2.48695267
54Pancreatic cysts (HP:0001737)2.47761528
55Abnormality of the labia majora (HP:0012881)2.46653678
56Conical tooth (HP:0000698)2.46587754
57Labial hypoplasia (HP:0000066)2.45880962
58Abnormal biliary tract morphology (HP:0012440)2.44811678
59Stenosis of the external auditory canal (HP:0000402)2.44779505
60Megaloblastic anemia (HP:0001889)2.43894805
61Hyperactive renin-angiotensin system (HP:0000841)2.36213240
62Abnormality of glutamine family amino acid metabolism (HP:0010902)2.34123610
63Basal ganglia calcification (HP:0002135)2.33153950
64Microretrognathia (HP:0000308)2.32850526
65Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.31475655
66Polycythemia (HP:0001901)2.29990124
67Abnormality of the labia minora (HP:0012880)2.29842915
68Abnormality of the thoracic spine (HP:0100711)2.29606119
69Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)2.29293469
70Tubulointerstitial nephritis (HP:0001970)2.28539282
71Intestinal atresia (HP:0011100)2.27867134
72True hermaphroditism (HP:0010459)2.25886102
73Chest pain (HP:0100749)2.24477345
74Gonadal dysgenesis (HP:0000133)2.23019847
75Orchitis (HP:0100796)2.18882445
76Bicuspid aortic valve (HP:0001647)2.18745112
77Abnormal albumin level (HP:0012116)2.18350612
78Hypoalbuminemia (HP:0003073)2.18350612
79Biliary tract neoplasm (HP:0100574)2.17878161
80Abnormality of abdominal situs (HP:0011620)2.17410587
81Abdominal situs inversus (HP:0003363)2.17410587
82Hypoplastic female external genitalia (HP:0012815)2.17356341
83Nonprogressive disorder (HP:0003680)2.17196326
84Interstitial pulmonary disease (HP:0006530)2.16311900
85Thoracic kyphosis (HP:0002942)2.15703774
86Abnormal biliary tract physiology (HP:0012439)2.15559043
87Bile duct proliferation (HP:0001408)2.15559043
88Abnormality of the nasal mucosa (HP:0000433)2.14239666
89Abnormal number of erythroid precursors (HP:0012131)2.13453159
90Abnormality of the pons (HP:0007361)2.13325642
91Tubular atrophy (HP:0000092)2.12808593
92Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)2.12392649
93Stomach cancer (HP:0012126)2.11818549
94Bronchiectasis (HP:0002110)2.10082652
95Micronodular cirrhosis (HP:0001413)2.08956738
96Preaxial foot polydactyly (HP:0001841)2.08688850
97Cheilitis (HP:0100825)2.08196216
98Hypoglycemic coma (HP:0001325)2.07712655
99Arterial thrombosis (HP:0004420)2.06826506
100Vaginal fistula (HP:0004320)2.05303665
101Hypoplasia of the fovea (HP:0007750)2.04840424
102Aplasia/Hypoplasia of the fovea (HP:0008060)2.04840424
103Abnormality of incisor morphology (HP:0011063)2.03960254
104Abnormality of the right ventricle (HP:0001707)2.03866098
105Spontaneous abortion (HP:0005268)2.02784832
106Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.02327527
107Short 1st metacarpal (HP:0010034)2.01396795
108Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.01396795
109Rectal prolapse (HP:0002035)2.01090102
110Abnormality of the 1st metacarpal (HP:0010009)1.99468352
111Proximal amyotrophy (HP:0007126)1.97597003
112Cystic liver disease (HP:0006706)1.97407837
113Abnormality of cells of the erythroid lineage (HP:0012130)1.97205877
114Colon cancer (HP:0003003)1.96558459
115Abnormality of the phalanges of the 2nd finger (HP:0009541)1.95534837
116Portal hypertension (HP:0001409)1.95252307
117Abnormality of the fingertips (HP:0001211)1.94561180
118Short middle phalanx of finger (HP:0005819)1.94223630
119Abnormality of cochlea (HP:0000375)1.92891100
120Soft skin (HP:0000977)1.91985123
121Facial hemangioma (HP:0000329)1.91453174
122Abnormality of urine glucose concentration (HP:0011016)1.90738615
123Glycosuria (HP:0003076)1.90738615
124Pulmonary fibrosis (HP:0002206)1.89680586
125Amelogenesis imperfecta (HP:0000705)1.89001508
126Short hallux (HP:0010109)1.88842961
127Aneurysm (HP:0002617)1.87946127
128Genital tract atresia (HP:0001827)1.86451840
129Thyroid carcinoma (HP:0002890)1.86168411
130Abnormality of the prostate (HP:0008775)1.85560598
131Vaginal atresia (HP:0000148)1.84155903
132Abnormality of the hepatic vasculature (HP:0006707)1.83399493
133Congenital stationary night blindness (HP:0007642)1.83385670
134Pancreatic fibrosis (HP:0100732)1.81971151
135Abolished electroretinogram (ERG) (HP:0000550)1.81755420
136Short middle phalanx of the 5th finger (HP:0004220)1.81497703
137Patchy hypopigmentation of hair (HP:0011365)1.81292298
138Flat face (HP:0012368)1.80504005
139Hypoproteinemia (HP:0003075)1.80477147
140Abnormality of the middle phalanges of the toes (HP:0010183)1.79863623
141Follicular hyperkeratosis (HP:0007502)1.78770074
142Bell-shaped thorax (HP:0001591)1.78703395
143Annular pancreas (HP:0001734)1.77467525
144Progressive inability to walk (HP:0002505)1.77388587
145Aortic regurgitation (HP:0001659)1.77312724
146Intestinal fistula (HP:0100819)1.76881116
147Abnormality of the labia (HP:0000058)1.76058137
148Abnormality of eosinophils (HP:0001879)1.75368317
149Type I transferrin isoform profile (HP:0003642)1.74493281
150Fused cervical vertebrae (HP:0002949)1.73968390
151Hypergonadotropic hypogonadism (HP:0000815)1.73544762
152Aplasia/Hypoplasia of the hallux (HP:0008362)1.73466901
153Abnormality of the renal medulla (HP:0100957)1.73455924
154Hypoalphalipoproteinemia (HP:0003233)1.73369662
155Abnormality of the axillary hair (HP:0100134)1.73265476
156Abnormality of secondary sexual hair (HP:0009888)1.73265476
157Abnormality of the middle phalanx of the 5th finger (HP:0004219)1.72771675
158Absent eyebrow (HP:0002223)1.71964275
159Long clavicles (HP:0000890)1.71727871
160Abnormality of vitamin B metabolism (HP:0004340)1.71645243
161Bilateral microphthalmos (HP:0007633)1.70436932
162Abnormal protein glycosylation (HP:0012346)1.69414862
163Abnormal glycosylation (HP:0012345)1.69414862
164Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.69414862
165Abnormal protein N-linked glycosylation (HP:0012347)1.69414862
166Absent hand (HP:0004050)1.69136266
167Reduced antithrombin III activity (HP:0001976)1.67967539
168High pitched voice (HP:0001620)1.67032333
169Long toe (HP:0010511)1.66832046
170Abnormality of the columella (HP:0009929)1.66427656
171Exocrine pancreatic insufficiency (HP:0001738)1.66159356
172Enlarged penis (HP:0000040)1.65439590
173Hip dysplasia (HP:0001385)1.63346564
174Myelodysplasia (HP:0002863)1.62781609
175Abnormality of the phalanges of the 5th finger (HP:0004213)1.62322529
176Autoimmune hemolytic anemia (HP:0001890)1.61606166
177Camptodactyly of toe (HP:0001836)1.61489183
178Coxa valga (HP:0002673)1.61261926
179Absent eyelashes (HP:0000561)1.61125410
180Abnormality of the pleura (HP:0002103)1.60767941
181Spinal canal stenosis (HP:0003416)1.60326159
182Lymphedema (HP:0001004)1.60156843
183Abnormality of the 2nd finger (HP:0004100)1.58749208
184Amaurosis fugax (HP:0100576)1.58134314
185Chronic bronchitis (HP:0004469)1.57589342
186Thickened calvaria (HP:0002684)1.55763302
187Large hands (HP:0001176)1.53516887
188Stereotypic behavior (HP:0000733)1.51586571
189Ankle contracture (HP:0006466)1.51584090
190Molar tooth sign on MRI (HP:0002419)1.51552096
191Abnormality of midbrain morphology (HP:0002418)1.51552096
192Myopathic facies (HP:0002058)1.50996347
193Diminished motivation (HP:0000745)1.49526658
194Abnormal platelet function (HP:0011869)1.48584588

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TIE15.19302235
2EEF2K4.63787767
3ACVR1B4.28621338
4MST43.69188148
5TAOK33.33057253
6BMPR1B3.07846021
7MAPKAPK33.02276334
8PBK2.94926175
9MAP3K62.70817755
10EPHA22.59544649
11TGFBR22.56040201
12AKT32.48116377
13ERN12.43006892
14MUSK2.24409193
15BCKDK2.21531408
16STK392.20364967
17LMTK22.20060590
18RPS6KB22.15880906
19GRK12.07675443
20FGFR22.02136401
21MET1.96023826
22TRIM281.92147445
23FRK1.90446391
24MAPKAPK51.88994789
25MAP3K121.86852404
26KDR1.85081459
27LATS11.69389226
28MKNK21.67368298
29NUAK11.64649660
30TGFBR11.64600319
31MAP3K131.60133566
32DMPK1.57739051
33KSR21.57606432
34FGFR11.56779554
35RAF11.55908384
36TEC1.55316161
37MYLK1.55209664
38SCYL21.54032178
39WNK41.53070698
40PAK31.53001371
41TAOK11.49334521
42TNIK1.47691546
43MST1R1.44200259
44BCR1.44079574
45CASK1.42848919
46WNK31.41002838
47KIT1.36352537
48ADRBK21.34536448
49ZAK1.24408350
50TRPM71.23170348
51BRSK21.22912066
52EIF2AK31.22622638
53MAPK131.21907012
54BRAF1.21460165
55CDK81.19378834
56OXSR11.15847330
57MAP2K21.15723973
58TLK11.13316830
59RIPK11.12109903
60EIF2AK11.09853333
61PRKCE1.08273792
62ERBB31.04922900
63MAP3K91.02927130
64MAP2K71.01806088
65PKN20.98275915
66BRD40.97344351
67LRRK20.92547205
68STK100.91703161
69MKNK10.90732076
70CSF1R0.90470982
71CDK190.88731041
72PLK20.87760531
73CAMKK20.85425262
74MATK0.85141543
75ADRBK10.84156295
76PLK30.82776858
77NLK0.81656802
78SGK20.79910038
79FES0.79617790
80PLK10.79487233
81JAK30.79395713
82FER0.78465693
83MAP3K80.77730678
84FLT30.76927769
85ILK0.76603528
86MAP4K20.76510169
87RET0.76341109
88INSRR0.76242164
89MOS0.74212628
90STK30.72873424
91CDK90.70661348
92PIK3CG0.68874081
93CAMK10.67141908
94PIK3CA0.66145458
95TSSK60.64392966
96MAP3K70.64041304
97MELK0.63614716
98BMPR20.63532326
99PAK20.63368645
100NTRK30.61872058
101BTK0.58594326
102PTK2B0.57791697
103IGF1R0.56896656
104PLK40.56745774
105MAP3K20.56523905
106NEK10.54536398
107PDK20.54312954
108CSNK1A10.52486937
109MAP2K30.52057958
110ERBB40.51456595
111PAK40.50727175
112HIPK20.50523856
113PINK10.49481637
114ZAP700.49287539
115SIK30.49054893
116LATS20.47586486
117STK40.47336722
118RPS6KA20.47178112
119PRKG20.46910817
120PTK20.46711580
121MAPK120.45221988
122MAP3K40.44483980
123WEE10.44465846
124MARK20.43976462
125STK160.43634691
126MAP3K10.43494618
127MAP2K10.42579682
128CAMK2A0.42131236
129NEK60.41732904
130ARAF0.41432252
131TTK0.39615934
132ROCK10.39330999
133STK38L0.38964960
134CSNK1D0.38948328
135STK240.38628806
136RPS6KA40.38376772
137PTK60.37585991
138PRKCI0.37421479
139PRKCG0.36880352
140DYRK30.36040724
141PRKAA20.35596856
142PRKCA0.35414649
143IRAK40.34678769
144TRIB30.34677387
145IKBKB0.34258222
146KSR10.34160408
147EGFR0.33645798
148SGK30.33602964
149CSNK1G20.32438242
150TAOK20.32381289
151CHUK0.32263588
152DAPK20.32158192
153EPHA30.31922824
154NEK90.31878888
155NME10.31096103
156DAPK10.30953926
157JAK10.30949780
158MAPK150.30905184
159NEK20.30727373
160STK380.30336036
161BMX0.29141141
162ATM0.28989395
163IRAK10.28266159
164PRKACB0.28246408
165TXK0.27626164
166ABL10.26712618
167CSNK1G30.25758539
168CSNK1G10.24922503

Predicted pathways (KEGG)

RankGene SetZ-score
1Pancreatic secretion_Homo sapiens_hsa049723.65037901
2Caffeine metabolism_Homo sapiens_hsa002323.34083670
3Vitamin digestion and absorption_Homo sapiens_hsa049773.21324423
4alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.70664508
5Linoleic acid metabolism_Homo sapiens_hsa005912.67192791
6Nitrogen metabolism_Homo sapiens_hsa009102.63566397
7Phototransduction_Homo sapiens_hsa047442.59381365
8Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.48075007
9Ether lipid metabolism_Homo sapiens_hsa005652.48005049
10Primary bile acid biosynthesis_Homo sapiens_hsa001202.46647115
11* Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.42428942
12Protein digestion and absorption_Homo sapiens_hsa049742.38302729
13* Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.36418605
14Protein export_Homo sapiens_hsa030602.35419665
15Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.34475154
16Retinol metabolism_Homo sapiens_hsa008302.33817002
17Pentose and glucuronate interconversions_Homo sapiens_hsa000402.29614725
18Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.20580197
19Chemical carcinogenesis_Homo sapiens_hsa052042.19145348
20Other glycan degradation_Homo sapiens_hsa005112.13249886
21N-Glycan biosynthesis_Homo sapiens_hsa005102.09747433
22Maturity onset diabetes of the young_Homo sapiens_hsa049502.07863646
23Steroid hormone biosynthesis_Homo sapiens_hsa001402.05193089
24Folate biosynthesis_Homo sapiens_hsa007901.92256663
25Tryptophan metabolism_Homo sapiens_hsa003801.77562592
26Selenocompound metabolism_Homo sapiens_hsa004501.75872502
27Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.71560051
28Pancreatic cancer_Homo sapiens_hsa052121.68504584
29One carbon pool by folate_Homo sapiens_hsa006701.65647510
30Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.64480298
31Histidine metabolism_Homo sapiens_hsa003401.60257389
32Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.58998589
33Renin-angiotensin system_Homo sapiens_hsa046141.54558761
34Circadian rhythm_Homo sapiens_hsa047101.52362486
35Steroid biosynthesis_Homo sapiens_hsa001001.50927262
36Glutathione metabolism_Homo sapiens_hsa004801.49066850
37beta-Alanine metabolism_Homo sapiens_hsa004101.45916716
38Propanoate metabolism_Homo sapiens_hsa006401.45351066
39Mineral absorption_Homo sapiens_hsa049781.43770430
40Butanoate metabolism_Homo sapiens_hsa006501.42202827
41Colorectal cancer_Homo sapiens_hsa052101.40868073
42Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.38484883
43Thyroid cancer_Homo sapiens_hsa052161.33708797
44Fatty acid degradation_Homo sapiens_hsa000711.27443288
45Sulfur metabolism_Homo sapiens_hsa009201.22094990
46Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.21572836
47RNA degradation_Homo sapiens_hsa030181.19377172
48Platelet activation_Homo sapiens_hsa046111.19178571
49GnRH signaling pathway_Homo sapiens_hsa049121.18887849
50Peroxisome_Homo sapiens_hsa041461.18287727
51SNARE interactions in vesicular transport_Homo sapiens_hsa041301.17422582
52Ovarian steroidogenesis_Homo sapiens_hsa049131.16380841
53DNA replication_Homo sapiens_hsa030301.15688098
54Endometrial cancer_Homo sapiens_hsa052131.12514347
55Sphingolipid metabolism_Homo sapiens_hsa006001.12116654
56Starch and sucrose metabolism_Homo sapiens_hsa005001.12071617
57Chronic myeloid leukemia_Homo sapiens_hsa052201.09728238
58Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.08925822
59Sulfur relay system_Homo sapiens_hsa041221.07085211
60Cyanoamino acid metabolism_Homo sapiens_hsa004601.05733135
61Estrogen signaling pathway_Homo sapiens_hsa049151.04792413
62Fat digestion and absorption_Homo sapiens_hsa049751.04590243
63TGF-beta signaling pathway_Homo sapiens_hsa043501.02980673
64Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.02742037
65VEGF signaling pathway_Homo sapiens_hsa043701.02624953
66Cell cycle_Homo sapiens_hsa041101.02347690
67Aldosterone synthesis and secretion_Homo sapiens_hsa049251.01889735
68Renin secretion_Homo sapiens_hsa049241.00232732
69Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.98456684
70ECM-receptor interaction_Homo sapiens_hsa045120.98196614
71AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.96759958
72Hepatitis B_Homo sapiens_hsa051610.96173184
73Toxoplasmosis_Homo sapiens_hsa051450.95128128
74Leukocyte transendothelial migration_Homo sapiens_hsa046700.95056759
75Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.93303588
76Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.92527249
77Non-homologous end-joining_Homo sapiens_hsa034500.92106480
78Gastric acid secretion_Homo sapiens_hsa049710.91532789
79Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.90651233
80Cholinergic synapse_Homo sapiens_hsa047250.90340295
81Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.89941881
82Adherens junction_Homo sapiens_hsa045200.89756217
83Galactose metabolism_Homo sapiens_hsa000520.89681319
84Influenza A_Homo sapiens_hsa051640.87418144
85Prolactin signaling pathway_Homo sapiens_hsa049170.86764193
86Transcriptional misregulation in cancer_Homo sapiens_hsa052020.85522413
87Long-term depression_Homo sapiens_hsa047300.85434928
88Non-small cell lung cancer_Homo sapiens_hsa052230.84903743
89Vascular smooth muscle contraction_Homo sapiens_hsa042700.84311238
90Circadian entrainment_Homo sapiens_hsa047130.84270690
91Acute myeloid leukemia_Homo sapiens_hsa052210.80933849
92cAMP signaling pathway_Homo sapiens_hsa040240.80651260
93Oxytocin signaling pathway_Homo sapiens_hsa049210.79161266
94Notch signaling pathway_Homo sapiens_hsa043300.78868658
95Neurotrophin signaling pathway_Homo sapiens_hsa047220.78721484
96Glycerophospholipid metabolism_Homo sapiens_hsa005640.77931003
97Focal adhesion_Homo sapiens_hsa045100.77491390
98Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.77398076
99Prostate cancer_Homo sapiens_hsa052150.77034729
100Shigellosis_Homo sapiens_hsa051310.72838438
101Cysteine and methionine metabolism_Homo sapiens_hsa002700.72803471
102Choline metabolism in cancer_Homo sapiens_hsa052310.72222294
103Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.71686073
104B cell receptor signaling pathway_Homo sapiens_hsa046620.70360089
105Small cell lung cancer_Homo sapiens_hsa052220.69899029
106ABC transporters_Homo sapiens_hsa020100.69809909
107Drug metabolism - other enzymes_Homo sapiens_hsa009830.69298734
108Calcium signaling pathway_Homo sapiens_hsa040200.69290090
109Cocaine addiction_Homo sapiens_hsa050300.69262481
110Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.69200043
111Fatty acid elongation_Homo sapiens_hsa000620.69154378
112Base excision repair_Homo sapiens_hsa034100.68972089
113PPAR signaling pathway_Homo sapiens_hsa033200.68472693
114Arginine and proline metabolism_Homo sapiens_hsa003300.68299098
115Glioma_Homo sapiens_hsa052140.68039305
116cGMP-PKG signaling pathway_Homo sapiens_hsa040220.67831806
117Carbohydrate digestion and absorption_Homo sapiens_hsa049730.67570243
118Glutamatergic synapse_Homo sapiens_hsa047240.66523576
119Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.66402335
120Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.65961566
121Glycerolipid metabolism_Homo sapiens_hsa005610.65789865
122Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.65460380
123Tight junction_Homo sapiens_hsa045300.65327369
124Complement and coagulation cascades_Homo sapiens_hsa046100.64781428
125Salivary secretion_Homo sapiens_hsa049700.64706673
126Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.64342718
127Long-term potentiation_Homo sapiens_hsa047200.63895861
128Gap junction_Homo sapiens_hsa045400.62807356
129Homologous recombination_Homo sapiens_hsa034400.62704561
130TNF signaling pathway_Homo sapiens_hsa046680.62148780
131Hippo signaling pathway_Homo sapiens_hsa043900.62075231
132ErbB signaling pathway_Homo sapiens_hsa040120.61431986
133Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.60957071
134Toll-like receptor signaling pathway_Homo sapiens_hsa046200.60697756
135Thyroid hormone synthesis_Homo sapiens_hsa049180.59904143
136HIF-1 signaling pathway_Homo sapiens_hsa040660.59544791
137Jak-STAT signaling pathway_Homo sapiens_hsa046300.59229033
138* Metabolic pathways_Homo sapiens_hsa011000.59173014
139Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.59103765
140Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.58936956
141Basal transcription factors_Homo sapiens_hsa030220.57834225
142Rap1 signaling pathway_Homo sapiens_hsa040150.57593449
143RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.57450107
144Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.56924716
145Phospholipase D signaling pathway_Homo sapiens_hsa040720.56767306
146Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.56726447
147Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.55994658
148Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.55724434
149Inositol phosphate metabolism_Homo sapiens_hsa005620.54469845
150Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.53979543
151Olfactory transduction_Homo sapiens_hsa047400.53958977
152Arginine biosynthesis_Homo sapiens_hsa002200.53678952
153Arachidonic acid metabolism_Homo sapiens_hsa005900.53362660
154Leishmaniasis_Homo sapiens_hsa051400.52487007
155Ras signaling pathway_Homo sapiens_hsa040140.52444872
156Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.52422939
157Insulin secretion_Homo sapiens_hsa049110.52129160
158Fatty acid metabolism_Homo sapiens_hsa012120.51991104
159Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.51894696
160Thyroid hormone signaling pathway_Homo sapiens_hsa049190.51480344
161Pathways in cancer_Homo sapiens_hsa052000.50729755
162Antigen processing and presentation_Homo sapiens_hsa046120.50188546
163Pyruvate metabolism_Homo sapiens_hsa006200.49940198
164Herpes simplex infection_Homo sapiens_hsa051680.49342642
165Mismatch repair_Homo sapiens_hsa034300.49007805
166Melanogenesis_Homo sapiens_hsa049160.48880612
167HTLV-I infection_Homo sapiens_hsa051660.48595380
168Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.37226901
169Tyrosine metabolism_Homo sapiens_hsa003500.35553721
170Wnt signaling pathway_Homo sapiens_hsa043100.33685532
171Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.33477367
172Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.32003039
173Phenylalanine metabolism_Homo sapiens_hsa003600.28250036
174p53 signaling pathway_Homo sapiens_hsa041150.27751558
175African trypanosomiasis_Homo sapiens_hsa051430.26450835
176Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.25624110
177Basal cell carcinoma_Homo sapiens_hsa052170.25195162
178Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.25045523
179Hedgehog signaling pathway_Homo sapiens_hsa043400.24192840
180Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.20995251
181Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.18357533
182Proteasome_Homo sapiens_hsa030500.17752680

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