B4GALNT2

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: B4GALNT2 catalyzes the last step in the biosynthesis of the human Sd(a) antigen through the addition of an N-acetylgalactosamine residue via a beta-1,4 linkage to a subterminal galactose residue substituted with an alpha-2,3-linked sialic acid. B4GALNT2 also catalyzes the last step in the biosynthesis of the Cad antigen (Montiel et al., 2003 [PubMed 12678917]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1intestinal absorption (GO:0050892)9.40081338
2intestinal epithelial cell development (GO:0060576)7.46471121
3vitamin A metabolic process (GO:0006776)7.00029775
4intestinal cholesterol absorption (GO:0030299)6.97702400
5angiotensin maturation (GO:0002003)6.83016584
6hormone catabolic process (GO:0042447)5.86541280
7daunorubicin metabolic process (GO:0044597)5.67004613
8polyketide metabolic process (GO:0030638)5.67004613
9doxorubicin metabolic process (GO:0044598)5.67004613
10monoubiquitinated protein deubiquitination (GO:0035520)5.64317439
11transepithelial transport (GO:0070633)5.44711814
12negative regulation of G2/M transition of mitotic cell cycle (GO:0010972)5.27355731
13flavonoid metabolic process (GO:0009812)5.04653138
14indole-containing compound catabolic process (GO:0042436)5.03459211
15indolalkylamine catabolic process (GO:0046218)5.03459211
16tryptophan catabolic process (GO:0006569)5.03459211
17actin filament depolymerization (GO:0030042)5.02230044
18cilium or flagellum-dependent cell motility (GO:0001539)4.98502441
19bundle of His cell to Purkinje myocyte communication (GO:0086069)4.95408062
20maintenance of gastrointestinal epithelium (GO:0030277)4.94852508
21indolalkylamine metabolic process (GO:0006586)4.73967206
22negative regulation of cell cycle G2/M phase transition (GO:1902750)4.69541194
23cellular response to ethanol (GO:0071361)4.69308180
24digestive system process (GO:0022600)4.54492874
25cytidine deamination (GO:0009972)4.51554624
26cytidine metabolic process (GO:0046087)4.51554624
27cytidine catabolic process (GO:0006216)4.51554624
28interkinetic nuclear migration (GO:0022027)4.50126412
29regulation of pigment cell differentiation (GO:0050932)4.46323326
30phospholipid translocation (GO:0045332)4.43822607
31lipid translocation (GO:0034204)4.43822607
32kynurenine metabolic process (GO:0070189)4.42582552
33trophectodermal cell differentiation (GO:0001829)4.42380054
34regulation of bile acid biosynthetic process (GO:0070857)4.39963178
35nucleotide-sugar biosynthetic process (GO:0009226)4.38537391
36tryptophan metabolic process (GO:0006568)4.37964406
37purine ribonucleoside bisphosphate metabolic process (GO:0034035)4.30035561
383-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)4.30035561
39sulfur compound transport (GO:0072348)4.29214674
40positive regulation of developmental pigmentation (GO:0048087)4.28147536
41protein K48-linked deubiquitination (GO:0071108)4.24922502
42modified amino acid transport (GO:0072337)4.22985751
43negative regulation of epidermis development (GO:0045683)4.22446187
44phenol-containing compound catabolic process (GO:0019336)4.22130893
45GDP-mannose metabolic process (GO:0019673)4.17155551
46regulation of hippo signaling (GO:0035330)4.17148421
47* UDP-N-acetylglucosamine metabolic process (GO:0006047)4.12788093
48bile acid and bile salt transport (GO:0015721)4.12326576
49sulfate transport (GO:0008272)4.10900728
50signal peptide processing (GO:0006465)4.06306219
51sulfate transmembrane transport (GO:1902358)4.04603193
52cellular response to hepatocyte growth factor stimulus (GO:0035729)4.04117211
53response to hepatocyte growth factor (GO:0035728)4.04117211
54regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)3.96660637
55branching involved in mammary gland duct morphogenesis (GO:0060444)3.94690812
56epithelial structure maintenance (GO:0010669)3.92621061
57thyroid hormone metabolic process (GO:0042403)3.90810054
58hypotonic response (GO:0006971)3.89756235
59primary alcohol catabolic process (GO:0034310)3.88815155
60somite rostral/caudal axis specification (GO:0032525)3.82548971
61O-glycan processing (GO:0016266)3.82094408
62phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)3.79086830
63regulation of establishment of cell polarity (GO:2000114)3.78374294
64negative regulation of epidermal cell differentiation (GO:0045605)3.75476348
65snRNA transcription (GO:0009301)3.75392292
66protein K11-linked deubiquitination (GO:0035871)3.70503977
67sulfur amino acid catabolic process (GO:0000098)3.68279295
68notochord development (GO:0030903)3.67567901
69regulation of Golgi to plasma membrane protein transport (GO:0042996)3.66381616
70neural tube formation (GO:0001841)3.65224772
71hepatocyte apoptotic process (GO:0097284)3.62604917
72drug catabolic process (GO:0042737)3.59256574
73adhesion of symbiont to host cell (GO:0044650)3.58718909
74virion attachment to host cell (GO:0019062)3.58718909
75negative regulation of complement activation (GO:0045916)3.54560471
76branching involved in labyrinthine layer morphogenesis (GO:0060670)3.53255546
77establishment of protein localization to Golgi (GO:0072600)3.51656722
78detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.50727827
79maintenance of protein location in nucleus (GO:0051457)3.49343600
80histone H3-K4 trimethylation (GO:0080182)3.47411790
81regulation of apoptotic process involved in morphogenesis (GO:1902337)3.46259996
82aminoglycoside antibiotic metabolic process (GO:0030647)3.45536985
83NAD biosynthetic process (GO:0009435)3.43947429
84negative regulation of cytosolic calcium ion concentration (GO:0051481)3.41457086
85digestion (GO:0007586)3.38997877
86calcium-independent cell-cell adhesion via plasma membrane cell-adhesion molecules (GO:0016338)3.36106617
87signal transduction involved in regulation of gene expression (GO:0023019)3.35686620
88protein localization to kinetochore (GO:0034501)3.34683175
89photoreceptor cell maintenance (GO:0045494)3.34331595
90sulfation (GO:0051923)3.33729375
91heterochromatin organization (GO:0070828)3.32857127
92muscle organ morphogenesis (GO:0048644)3.32681249
93regulation of establishment or maintenance of cell polarity (GO:0032878)3.32164377
94negative regulation of protein activation cascade (GO:2000258)3.31952954
95regulation of posttranscriptional gene silencing (GO:0060147)3.29427960
96regulation of gene silencing by miRNA (GO:0060964)3.29427960
97regulation of gene silencing by RNA (GO:0060966)3.29427960
98regulation of response to osmotic stress (GO:0047484)3.28755508
99nucleoside transmembrane transport (GO:1901642)3.27156559
100tachykinin receptor signaling pathway (GO:0007217)3.26808929
101indole-containing compound metabolic process (GO:0042430)3.25098951
102epoxygenase P450 pathway (GO:0019373)3.24612132
103protein K63-linked deubiquitination (GO:0070536)3.22359295
104regulation of sarcomere organization (GO:0060297)3.19815113
105nucleoside transport (GO:0015858)3.17000789
106pyrimidine ribonucleoside catabolic process (GO:0046133)3.15970613
107regulation of viral release from host cell (GO:1902186)3.15600939
108drug metabolic process (GO:0017144)3.14765204
109cell differentiation involved in embryonic placenta development (GO:0060706)3.13428855
110bicarbonate transport (GO:0015701)3.12457428
111negative regulation of keratinocyte proliferation (GO:0010839)3.12454999
112glucose 6-phosphate metabolic process (GO:0051156)3.11262123
113arachidonic acid secretion (GO:0050482)3.10893023
114icosanoid secretion (GO:0032309)3.10893023
115striated muscle atrophy (GO:0014891)3.09067083
116receptor recycling (GO:0001881)3.08956272
117positive regulation of digestive system process (GO:0060456)3.06284843
118regulation of mammary gland epithelial cell proliferation (GO:0033599)3.02431453
119lipoprotein transport (GO:0042953)3.01541418
120regulation of B cell receptor signaling pathway (GO:0050855)3.00843294
121positive regulation of epidermal cell differentiation (GO:0045606)3.00650437
122cytoplasmic mRNA processing body assembly (GO:0033962)2.99561374
123lipoprotein metabolic process (GO:0042157)2.98920142
124regulation of cholesterol homeostasis (GO:2000188)2.98258719
125fatty acid derivative transport (GO:1901571)2.97995525
126icosanoid transport (GO:0071715)2.97995525
127thrombin receptor signaling pathway (GO:0070493)2.97842340
128cellular ketone body metabolic process (GO:0046950)2.95735756
129benzene-containing compound metabolic process (GO:0042537)2.94255442
130fat-soluble vitamin metabolic process (GO:0006775)2.90622068
131negative regulation of potassium ion transmembrane transporter activity (GO:1901017)2.89629159
132rRNA catabolic process (GO:0016075)2.88471378
133positive regulation of epidermis development (GO:0045684)2.87567941
134pyrimidine-containing compound transmembrane transport (GO:0072531)2.87464012
135detection of light stimulus involved in sensory perception (GO:0050962)2.86205742
136detection of light stimulus involved in visual perception (GO:0050908)2.86205742
137diol metabolic process (GO:0034311)2.86069559
138negative regulation of translation, ncRNA-mediated (GO:0040033)2.84007387
139regulation of translation, ncRNA-mediated (GO:0045974)2.84007387
140negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.84007387
141oxidative demethylation (GO:0070989)2.83953576
142histone H3-K9 methylation (GO:0051567)2.83906024
143sperm capacitation (GO:0048240)2.83794270
144regulation of telomere maintenance via telomerase (GO:0032210)2.83583689
145vitamin transmembrane transport (GO:0035461)2.83233331
146negative regulation of humoral immune response (GO:0002921)2.78914955
147positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.77148354
148cellular biogenic amine catabolic process (GO:0042402)2.76344181
149amine catabolic process (GO:0009310)2.76344181
150nucleus localization (GO:0051647)2.76321436
151interleukin-6-mediated signaling pathway (GO:0070102)2.75215355
152cellular response to sterol (GO:0036315)2.74997740
153negative regulation of cAMP-mediated signaling (GO:0043951)2.74477308
154intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)2.74344032
155skeletal muscle adaptation (GO:0043501)2.73267669
156negative regulation of immunoglobulin mediated immune response (GO:0002890)2.73236133
157negative regulation of B cell mediated immunity (GO:0002713)2.73236133
158adhesion of symbiont to host (GO:0044406)2.73227234
159desmosome organization (GO:0002934)2.71898324
160amino acid transmembrane transport (GO:0003333)2.71300591
161negative regulation of telomerase activity (GO:0051974)2.71296799
162sphingoid metabolic process (GO:0046519)2.69835877
163phospholipid efflux (GO:0033700)2.69707137
164regulation of interleukin-12 biosynthetic process (GO:0045075)2.67908588
165protein prenylation (GO:0018342)2.67900655
166prenylation (GO:0097354)2.67900655
167pyridine nucleotide biosynthetic process (GO:0019363)2.65619101
168nicotinamide nucleotide biosynthetic process (GO:0019359)2.65619101
169protein targeting to vacuole (GO:0006623)2.64587617
170protein targeting to lysosome (GO:0006622)2.64587617
171establishment of protein localization to vacuole (GO:0072666)2.64587617
172negative regulation of sodium ion transport (GO:0010766)2.63939877
173dicarboxylic acid biosynthetic process (GO:0043650)2.63573860
174regulation of membrane lipid distribution (GO:0097035)2.63542124
175behavioral response to ethanol (GO:0048149)2.63050687
176aromatic amino acid family catabolic process (GO:0009074)2.61582780
177ketone body metabolic process (GO:1902224)2.59337240
178reflex (GO:0060004)2.57179265
179regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.56635041
180pericardium development (GO:0060039)2.56361891
181muscle atrophy (GO:0014889)2.55731444
182aromatic amino acid family metabolic process (GO:0009072)2.51817693
183serotonin metabolic process (GO:0042428)2.51770944
184histone H3-K9 modification (GO:0061647)2.51762009
185peptidyl-lysine trimethylation (GO:0018023)2.51701615
186regulation of MHC class II biosynthetic process (GO:0045346)2.50963587
187histone lysine methylation (GO:0034968)2.49339061
188regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.49275619
189L-fucose catabolic process (GO:0042355)2.45749335
190fucose catabolic process (GO:0019317)2.45749335
191L-fucose metabolic process (GO:0042354)2.45749335
192regulation of skeletal muscle contraction (GO:0014819)2.42841309
193central nervous system neuron axonogenesis (GO:0021955)2.42726268
194auditory receptor cell stereocilium organization (GO:0060088)2.42502879
195alkaloid metabolic process (GO:0009820)2.42234878
196peptidyl-lysine methylation (GO:0018022)2.41495593

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human5.57514833
2CDX2_20551321_ChIP-Seq_CACO-2_Human5.21409603
3KLF4_18264089_ChIP-ChIP_MESCs_Mouse4.39903075
4KLF2_18264089_ChIP-ChIP_MESCs_Mouse4.39903075
5KLF5_18264089_ChIP-ChIP_MESCs_Mouse4.39903075
6BP1_19119308_ChIP-ChIP_Hs578T_Human3.98420338
7GBX2_23144817_ChIP-Seq_PC3_Human3.19925618
8SOX2_27498859_Chip-Seq_STOMACH_Mouse3.09014461
9RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.73794772
10CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.72206221
11GATA6_25053715_ChIP-Seq_YYC3_Human2.71285405
12NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.67081430
13POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.65881879
14GATA4_25053715_ChIP-Seq_YYC3_Human2.51645639
15E2F7_22180533_ChIP-Seq_HELA_Human2.50768495
16GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.40940622
17VDR_22108803_ChIP-Seq_LS180_Human2.38760441
18POU3F2_20337985_ChIP-ChIP_501MEL_Human2.35500524
19SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.34637716
20SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.33335989
21IGF1R_20145208_ChIP-Seq_DFB_Human2.31027330
22NR0B1_18358816_ChIP-ChIP_MESCs_Mouse2.30957155
23TCF3_18692474_ChIP-Seq_MEFs_Mouse2.29759944
24AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.27395440
25NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.23292580
26TP63_19390658_ChIP-ChIP_HaCaT_Human2.20338571
27SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.19186582
28SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.18287830
29TCF3_18692474_ChIP-Seq_MESCs_Mouse2.17564992
30TAF15_26573619_Chip-Seq_HEK293_Human2.16606564
31HIF1A_21447827_ChIP-Seq_MCF-7_Human2.12526144
32ZFP57_27257070_Chip-Seq_ESCs_Mouse2.09859651
33PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.04872070
34KLF4_18358816_ChIP-ChIP_MESCs_Mouse2.04330122
35BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.03480869
36GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.02757184
37STAT3_23295773_ChIP-Seq_U87_Human2.02640244
38SMAD_19615063_ChIP-ChIP_OVARY_Human2.01345777
39TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.01156426
40ZNF274_21170338_ChIP-Seq_K562_Hela1.95525346
41FOXO3_23340844_ChIP-Seq_DLD1_Human1.95262532
42FLI1_27457419_Chip-Seq_LIVER_Mouse1.93666894
43ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.92837420
44PIAS1_25552417_ChIP-Seq_VCAP_Human1.91186418
45HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.88466006
46ER_23166858_ChIP-Seq_MCF-7_Human1.86606366
47TP53_16413492_ChIP-PET_HCT116_Human1.85869395
48NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.85217128
49CTBP2_25329375_ChIP-Seq_LNCAP_Human1.84660298
50* CDX2_19796622_ChIP-Seq_MESCs_Mouse1.83733475
51AR_21909140_ChIP-Seq_LNCAP_Human1.78608675
52SOX2_20726797_ChIP-Seq_SW620_Human1.77727653
53SMAD4_21799915_ChIP-Seq_A2780_Human1.77265020
54NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.76047297
55SRY_22984422_ChIP-ChIP_TESTIS_Rat1.74568924
56PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.74241390
57TCF4_23295773_ChIP-Seq_U87_Human1.72664327
58STAT3_1855785_ChIP-Seq_MESCs_Mouse1.72312523
59* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.71164054
60STAT6_21828071_ChIP-Seq_BEAS2B_Human1.70793032
61P300_19829295_ChIP-Seq_ESCs_Human1.70656709
62SALL1_21062744_ChIP-ChIP_HESCs_Human1.67063951
63AR_21572438_ChIP-Seq_LNCaP_Human1.66073859
64BCAT_22108803_ChIP-Seq_LS180_Human1.64400414
65ESR2_21235772_ChIP-Seq_MCF-7_Human1.63536877
66AHR_22903824_ChIP-Seq_MCF-7_Human1.60408534
67TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.58853208
68POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.58853208
69RACK7_27058665_Chip-Seq_MCF-7_Human1.58620415
70FUS_26573619_Chip-Seq_HEK293_Human1.57627483
71NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.57445894
72EWS_26573619_Chip-Seq_HEK293_Human1.57379154
73NR3C1_21868756_ChIP-Seq_MCF10A_Human1.57033321
74PCGF2_27294783_Chip-Seq_ESCs_Mouse1.55575453
75CBP_20019798_ChIP-Seq_JUKART_Human1.52225852
76IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.52225852
77IRF8_22096565_ChIP-ChIP_GC-B_Human1.51984002
78KLF5_25053715_ChIP-Seq_YYC3_Human1.51390240
79DROSHA_22980978_ChIP-Seq_HELA_Human1.50497962
80BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.50465123
81KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.50243006
82MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.50223107
83* UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.49137249
84ARNT_22903824_ChIP-Seq_MCF-7_Human1.47945051
85STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.47720957
86CTBP1_25329375_ChIP-Seq_LNCAP_Human1.47013862
87PPARA_22158963_ChIP-Seq_LIVER_Mouse1.46462189
88* RUNX1_27514584_Chip-Seq_MCF-7_Human1.46035351
89PPAR_26484153_Chip-Seq_NCI-H1993_Human1.45540322
90TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.44990967
91NANOG_18692474_ChIP-Seq_MEFs_Mouse1.43917922
92NANOG_18692474_ChIP-Seq_MESCs_Mouse1.41922507
93TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.41484714
94STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.41377831
95NANOG_18555785_ChIP-Seq_MESCs_Mouse1.38414955
96ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.36616191
97EGR1_23403033_ChIP-Seq_LIVER_Mouse1.36457651
98ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.35040679
99CDX2_22108803_ChIP-Seq_LS180_Human1.34336431
100KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.33988983
101PRDM14_20953172_ChIP-Seq_ESCs_Human1.33852040
102SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33221189
103SMAD3_21741376_ChIP-Seq_EPCs_Human1.33202750
104ATF3_27146783_Chip-Seq_COLON_Human1.33131891
105FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.32875833
106SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.32151599
107OCT4_18692474_ChIP-Seq_MEFs_Mouse1.32148653
108FOXM1_26456572_ChIP-Seq_MCF-7_Human1.31419072
109SUZ12_27294783_Chip-Seq_NPCs_Mouse1.30602237
110TCF4_22108803_ChIP-Seq_LS180_Human1.30262240
111AR_25329375_ChIP-Seq_VCAP_Human1.29941508
112OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.29234148
113EZH2_27294783_Chip-Seq_NPCs_Mouse1.27910619
114RXR_22108803_ChIP-Seq_LS180_Human1.27669781
115TOP2B_26459242_ChIP-Seq_MCF-7_Human1.27480967
116FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.26682974
117SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.24668554
118* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.23608090
119CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.23396409
120EZH2_22144423_ChIP-Seq_EOC_Human1.23230223
121PCGF2_27294783_Chip-Seq_NPCs_Mouse1.22803920
122RUNX2_22187159_ChIP-Seq_PCA_Human1.22173744
123TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.21919001
124ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.21836556
125NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.21024166
126NRF2_20460467_ChIP-Seq_MEFs_Mouse1.21024166
127FLI1_21867929_ChIP-Seq_TH2_Mouse1.19750480
128EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.19695888
129ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.19290637
130ESR1_21235772_ChIP-Seq_MCF-7_Human1.18512440
131NFE2_27457419_Chip-Seq_LIVER_Mouse1.16816282
132SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.16052521
133KDM2B_26808549_Chip-Seq_REH_Human1.13628980
134NANOG_18555785_Chip-Seq_ESCs_Mouse1.12731670
135ESR1_20079471_ChIP-ChIP_T-47D_Human1.12722693
136SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.12722348
137CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.12489554
138TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.11933496
139POU5F1_16518401_ChIP-PET_MESCs_Mouse1.11884615
140SOX2_21211035_ChIP-Seq_LN229_Gbm1.11454013
141SCL_19346495_ChIP-Seq_HPC-7_Human1.11310909
142TRIM28_21343339_ChIP-Seq_HEK293_Human1.11161939
143RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.10809833
144CJUN_26792858_Chip-Seq_BT549_Human1.10809142
145POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.10612400
146LXR_22158963_ChIP-Seq_LIVER_Mouse1.09826821
147PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.08955593
148VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.08563705
149SMAD3_21741376_ChIP-Seq_HESCs_Human1.08236012
150TCF4_18268006_ChIP-ChIP_LS174T_Human1.07145911
151IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.06736454
152SMAD4_21741376_ChIP-Seq_EPCs_Human1.06542922
153* TP63_23658742_ChIP-Seq_EP156T_Human1.06538241
154EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.06396065
155VDR_24787735_ChIP-Seq_THP-1_Human1.06008107
156* KLF5_20875108_ChIP-Seq_MESCs_Mouse1.05430814
157E2F1_18555785_Chip-Seq_ESCs_Mouse1.05422362
158CRX_20693478_ChIP-Seq_RETINA_Mouse1.05410136
159STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.04964069
160ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.03906671
161FOXA2_19822575_ChIP-Seq_HepG2_Human1.03290960
162ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.02751585
163FOXM1_23109430_ChIP-Seq_U2OS_Human1.02553511
164TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.02431458
165* OCT4_21477851_ChIP-Seq_ESCs_Mouse1.02395478
166GATA3_24758297_ChIP-Seq_MCF-7_Human1.02216167
167TP53_22127205_ChIP-Seq_IMR90_Human0.98339132
168NCOR1_26117541_ChIP-Seq_K562_Human0.98124258
169POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.98075361
170SOX2_18692474_ChIP-Seq_MEFs_Mouse0.96979074
171CREB1_26743006_Chip-Seq_LNCaP_Human0.95829578
172SOX2_18692474_ChIP-Seq_MESCs_Mouse0.95685110
173FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.94994663
174RXR_22158963_ChIP-Seq_LIVER_Mouse0.93849809
175ELF5_23300383_ChIP-Seq_T47D_Human0.93071602
176FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.92330283
177KAP1_27257070_Chip-Seq_ESCs_Mouse0.89655492
178PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.88673645
179FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.88155247
180GATA1_26923725_Chip-Seq_HPCs_Mouse0.88146323
181* HNF4A_19822575_ChIP-Seq_HepG2_Human0.87474770
182NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.87161880
183TCF7_22412390_ChIP-Seq_EML_Mouse0.87128890
184PHF8_20622854_ChIP-Seq_HELA_Human0.85477993
185CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.83164773
186* EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.81941250
187NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.80503957
188PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.79969542
189ELK3_25401928_ChIP-Seq_HUVEC_Human0.79715930
190CTNNB1_20460455_ChIP-Seq_HCT116_Human0.79507314
191TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.79152124
192* EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.78925258
193CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.78363698
194TP63_22573176_ChIP-Seq_HFKS_Human0.77942487
195P300_27058665_Chip-Seq_ZR-75-30cells_Human0.76704540
196BCOR_27268052_Chip-Seq_Bcells_Human0.75639424

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004264_abnormal_extraembryonic_tissu6.14825249
2MP0008057_abnormal_DNA_replication5.96041329
3MP0000569_abnormal_digit_pigmentation5.83345922
4MP0005360_urolithiasis5.08497022
5MP0010234_abnormal_vibrissa_follicle4.71711546
6MP0001666_abnormal_nutrient_absorption4.29041320
7MP0003195_calcinosis3.85003595
8MP0010352_gastrointestinal_tract_polyps3.44662488
9MP0003183_abnormal_peptide_metabolism3.34119531
10MP0000462_abnormal_digestive_system3.15404834
11MP0002254_reproductive_system_inflammat3.12031287
12MP0003866_abnormal_defecation3.06084229
13MP0003045_fibrosis2.93526388
14MP0003705_abnormal_hypodermis_morpholog2.91676831
15MP0002138_abnormal_hepatobiliary_system2.73103956
16MP0001501_abnormal_sleep_pattern2.66458499
17MP0000490_abnormal_crypts_of2.63057158
18MP0003646_muscle_fatigue2.59924714
19MP0005085_abnormal_gallbladder_physiolo2.34761095
20MP0003950_abnormal_plasma_membrane2.34292998
21MP0001873_stomach_inflammation2.24676286
22MP0002009_preneoplasia2.21254992
23* MP0010155_abnormal_intestine_physiology2.14639964
24MP0000477_abnormal_intestine_morphology2.11563729
25MP0004043_abnormal_pH_regulation2.10794756
26MP0002822_catalepsy2.09433423
27MP0000427_abnormal_hair_cycle2.07180263
28MP0001663_abnormal_digestive_system2.04360866
29MP0008875_abnormal_xenobiotic_pharmacok2.01968747
30MP0005381_digestive/alimentary_phenotyp1.97561858
31MP0002277_abnormal_respiratory_mucosa1.96882857
32MP0002168_other_aberrant_phenotype1.95912418
33MP0003252_abnormal_bile_duct1.92636804
34MP0003300_gastrointestinal_ulcer1.88381426
35MP0004130_abnormal_muscle_cell1.85300086
36MP0005551_abnormal_eye_electrophysiolog1.82848388
37MP0003878_abnormal_ear_physiology1.82413768
38MP0005377_hearing/vestibular/ear_phenot1.82413768
39MP0001849_ear_inflammation1.82180979
40MP0000537_abnormal_urethra_morphology1.74184395
41MP0003011_delayed_dark_adaptation1.65977790
42MP0005365_abnormal_bile_salt1.65593051
43MP0005174_abnormal_tail_pigmentation1.63296471
44MP0009046_muscle_twitch1.62919977
45MP0004957_abnormal_blastocyst_morpholog1.62646048
46MP0005670_abnormal_white_adipose1.60392044
47MP0009840_abnormal_foam_cell1.60017185
48MP0001664_abnormal_digestion1.52772280
49MP0004858_abnormal_nervous_system1.47206033
50MP0002796_impaired_skin_barrier1.43978528
51MP0010678_abnormal_skin_adnexa1.39770490
52MP0003283_abnormal_digestive_organ1.38853044
53MP0000678_abnormal_parathyroid_gland1.38692395
54MP0002139_abnormal_hepatobiliary_system1.37232179
55MP0000230_abnormal_systemic_arterial1.31344391
56MP0010329_abnormal_lipoprotein_level1.29819061
57MP0003315_abnormal_perineum_morphology1.29368830
58MP0004484_altered_response_of1.28997578
59MP0001968_abnormal_touch/_nociception1.27583749
60MP0003890_abnormal_embryonic-extraembry1.25305299
61MP0002876_abnormal_thyroid_physiology1.24326967
62MP0002928_abnormal_bile_duct1.21929727
63MP0005646_abnormal_pituitary_gland1.21210066
64MP0005167_abnormal_blood-brain_barrier1.21019122
65MP0005310_abnormal_salivary_gland1.20889065
66MP0010386_abnormal_urinary_bladder1.19274601
67MP0006054_spinal_hemorrhage1.17653227
68MP0000371_diluted_coat_color1.17099441
69MP0002098_abnormal_vibrissa_morphology1.15196730
70MP0005395_other_phenotype1.14359152
71MP0004147_increased_porphyrin_level1.12751583
72MP0005499_abnormal_olfactory_system1.12627325
73MP0005394_taste/olfaction_phenotype1.12627325
74MP0000015_abnormal_ear_pigmentation1.10513099
75MP0003693_abnormal_embryo_hatching1.10323339
76MP0004381_abnormal_hair_follicle1.08826635
77MP0004019_abnormal_vitamin_homeostasis1.05392102
78MP0003879_abnormal_hair_cell1.04703242
79MP0002132_abnormal_respiratory_system1.04351697
80MP0005266_abnormal_metabolism1.04108144
81MP0001485_abnormal_pinna_reflex1.02443240
82MP0003724_increased_susceptibility_to1.01128437
83MP0009764_decreased_sensitivity_to1.00739534
84MP0003868_abnormal_feces_composition1.00609757
85MP0003633_abnormal_nervous_system0.99308198
86MP0004215_abnormal_myocardial_fiber0.97593534
87MP0005253_abnormal_eye_physiology0.97226791
88MP0005257_abnormal_intraocular_pressure0.95539588
89MP0000467_abnormal_esophagus_morphology0.93583720
90MP0004084_abnormal_cardiac_muscle0.93378936
91MP0008872_abnormal_physiological_respon0.93273736
92MP0000538_abnormal_urinary_bladder0.92613778
93MP0008877_abnormal_DNA_methylation0.91490574
94MP0003938_abnormal_ear_development0.91437680
95MP0001672_abnormal_embryogenesis/_devel0.90425065
96MP0005380_embryogenesis_phenotype0.90425065
97MP0006035_abnormal_mitochondrial_morpho0.89997909
98MP0002086_abnormal_extraembryonic_tissu0.89142518
99MP0005075_abnormal_melanosome_morpholog0.88786247
100MP0003453_abnormal_keratinocyte_physiol0.88565054
101MP0005501_abnormal_skin_physiology0.87122380
102MP0008961_abnormal_basal_metabolism0.86403308
103MP0002166_altered_tumor_susceptibility0.86304265
104MP0003119_abnormal_digestive_system0.85966096
105MP0002088_abnormal_embryonic_growth/wei0.85703929
106MP0003984_embryonic_growth_retardation0.85450927
107MP0006082_CNS_inflammation0.85391374
108MP0001486_abnormal_startle_reflex0.84894296
109MP0003656_abnormal_erythrocyte_physiolo0.84477720
110MP0000762_abnormal_tongue_morphology0.84178921
111MP0005376_homeostasis/metabolism_phenot0.83788945
112MP0003191_abnormal_cellular_cholesterol0.83564415
113MP0006276_abnormal_autonomic_nervous0.83360277
114MP0001756_abnormal_urination0.83266186
115MP0005647_abnormal_sex_gland0.82751802
116MP0009745_abnormal_behavioral_response0.82283220
117MP0003631_nervous_system_phenotype0.81598247
118MP0003632_abnormal_nervous_system0.81490492
119MP0004036_abnormal_muscle_relaxation0.81400089
120MP0004145_abnormal_muscle_electrophysio0.80393963
121MP0001800_abnormal_humoral_immune0.79940427
122MP0005386_behavior/neurological_phenoty0.79715752
123MP0004924_abnormal_behavior0.79715752
124MP0004947_skin_inflammation0.79643529
125MP0000609_abnormal_liver_physiology0.78624890
126MP0003136_yellow_coat_color0.77895283
127MP0001765_abnormal_ion_homeostasis0.76979003
128MP0009643_abnormal_urine_homeostasis0.76617784
129MP0005023_abnormal_wound_healing0.76098153
130MP0001216_abnormal_epidermal_layer0.74650804
131MP0005448_abnormal_energy_balance0.74479441
132MP0008775_abnormal_heart_ventricle0.73566983
133MP0000377_abnormal_hair_follicle0.72393192
134MP0002229_neurodegeneration0.72229816
135MP0005397_hematopoietic_system_phenotyp0.71899605
136MP0001545_abnormal_hematopoietic_system0.71899605
137MP0001661_extended_life_span0.71664145
138MP0001986_abnormal_taste_sensitivity0.71591389
139MP0002735_abnormal_chemical_nociception0.71378537
140MP0003806_abnormal_nucleotide_metabolis0.71360414
141MP0005319_abnormal_enzyme/_coenzyme0.70377024
142MP0002332_abnormal_exercise_endurance0.69221512
143MP0003828_pulmonary_edema0.69178891
144MP0000383_abnormal_hair_follicle0.68985246
145MP0003943_abnormal_hepatobiliary_system0.67613253
146MP0005248_abnormal_Harderian_gland0.67161207
147MP0000350_abnormal_cell_proliferation0.66358619
148MP0001730_embryonic_growth_arrest0.65044961
149MP0003763_abnormal_thymus_physiology0.64797414
150MP0002067_abnormal_sensory_capabilities0.64315624
151MP0000613_abnormal_salivary_gland0.64106156
152MP0002396_abnormal_hematopoietic_system0.63793709
153MP0000516_abnormal_urinary_system0.63517378
154MP0005367_renal/urinary_system_phenotyp0.63517378
155MP0000465_gastrointestinal_hemorrhage0.63229898
156MP0002971_abnormal_brown_adipose0.62528439
157MP0003690_abnormal_glial_cell0.61552224
158MP0002736_abnormal_nociception_after0.61464993
159MP0002118_abnormal_lipid_homeostasis0.61096041
160MP0003941_abnormal_skin_development0.60412092
161MP0000470_abnormal_stomach_morphology0.59149163
162MP0006292_abnormal_olfactory_placode0.58125585
163MP0002653_abnormal_ependyma_morphology0.53927751
164MP0009115_abnormal_fat_cell0.52373245
165MP0002233_abnormal_nose_morphology0.51563493
166MP0002085_abnormal_embryonic_tissue0.51181206
167MP0000432_abnormal_head_morphology0.51067730
168MP0009384_cardiac_valve_regurgitation0.50858533

Predicted human phenotypes

RankGene SetZ-score
1Ileus (HP:0002595)7.25576363
2Genetic anticipation (HP:0003743)5.39111392
3Malnutrition (HP:0004395)5.36154563
4Right ventricular cardiomyopathy (HP:0011663)4.82421443
5Bilateral microphthalmos (HP:0007633)4.67105506
6Gaze-evoked nystagmus (HP:0000640)4.63445032
7Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)4.39143721
8Abnormality of small intestinal villus morphology (HP:0011472)4.34016479
9Villous atrophy (HP:0011473)4.34016479
10Hyperventilation (HP:0002883)4.15318611
11Abdominal distention (HP:0003270)3.82584277
12Progressive cerebellar ataxia (HP:0002073)3.82353460
13Multiple enchondromatosis (HP:0005701)3.81424885
14Increased neuronal autofluorescent lipopigment (HP:0002074)3.81319516
15Decreased circulating renin level (HP:0003351)3.77036788
16Hypochromic microcytic anemia (HP:0004840)3.62589602
17Mildly elevated creatine phosphokinase (HP:0008180)3.61716471
18Abnormality of the distal phalanx of the thumb (HP:0009617)3.54293159
19Clumsiness (HP:0002312)3.53112495
20Gastrointestinal dysmotility (HP:0002579)3.48196684
21Hepatoblastoma (HP:0002884)3.48001933
22Central scotoma (HP:0000603)3.47567549
23Dysmetric saccades (HP:0000641)3.46151348
24Acanthocytosis (HP:0001927)3.41849313
25Pancreatic cysts (HP:0001737)3.39354501
26Chronic diarrhea (HP:0002028)3.35980625
27Microretrognathia (HP:0000308)3.33770988
28Abnormality of glutamine family amino acid metabolism (HP:0010902)3.31470268
29Attenuation of retinal blood vessels (HP:0007843)3.29960331
30Fair hair (HP:0002286)3.29830536
31Chronic hepatic failure (HP:0100626)3.24720985
32Abnormal cartilage morphology (HP:0002763)3.19022244
33Flat acetabular roof (HP:0003180)3.11082505
34Protruding tongue (HP:0010808)3.04626985
35Micronodular cirrhosis (HP:0001413)3.02579010
36Conjugated hyperbilirubinemia (HP:0002908)3.01798161
37Increased cerebral lipofuscin (HP:0011813)3.01733878
38Abnormality of the renal cortex (HP:0011035)2.84715702
39Short humerus (HP:0005792)2.83098155
40Hyperactive renin-angiotensin system (HP:0000841)2.81404114
41Rib fusion (HP:0000902)2.81334851
42Febrile seizures (HP:0002373)2.81126979
43Ependymoma (HP:0002888)2.78158718
44Rectal prolapse (HP:0002035)2.76895518
45Abnormality of the lower motor neuron (HP:0002366)2.72980781
46Pancreatic fibrosis (HP:0100732)2.71159609
47Aplasia/hypoplasia of the humerus (HP:0006507)2.68223059
48Fat malabsorption (HP:0002630)2.67755547
49Reduced antithrombin III activity (HP:0001976)2.67686619
50Facial diplegia (HP:0001349)2.67560989
51Abnormality of the phalanges of the hallux (HP:0010057)2.66366667
52Cupped ribs (HP:0000887)2.65484394
53Aplasia/Hypoplasia of the tibia (HP:0005772)2.63762376
54Combined immunodeficiency (HP:0005387)2.63198811
55Hypobetalipoproteinemia (HP:0003563)2.62994542
56Generalized hypopigmentation of hair (HP:0011358)2.62101151
57Cheilitis (HP:0100825)2.59593163
58Hyperkalemia (HP:0002153)2.58778995
59Abnormality of renin-angiotensin system (HP:0000847)2.58379054
60True hermaphroditism (HP:0010459)2.57834529
61Widely patent fontanelles and sutures (HP:0004492)2.57827869
62Partial duplication of thumb phalanx (HP:0009944)2.57463351
63Metabolic alkalosis (HP:0200114)2.54608087
64Autoimmune thrombocytopenia (HP:0001973)2.49555246
65Trismus (HP:0000211)2.49405610
66Bony spicule pigmentary retinopathy (HP:0007737)2.47901558
67Abnormal biliary tract morphology (HP:0012440)2.47327738
68Curly hair (HP:0002212)2.43389628
69Dehydration (HP:0001944)2.42709717
70Stomach cancer (HP:0012126)2.42380469
71Hyperinsulinemic hypoglycemia (HP:0000825)2.41988452
72Increased connective tissue (HP:0009025)2.39857133
73Scotoma (HP:0000575)2.35857317
74Cystic liver disease (HP:0006706)2.33481165
75Thyroid-stimulating hormone excess (HP:0002925)2.33468339
76Urinary bladder sphincter dysfunction (HP:0002839)2.31743696
77Abnormality of the salivary glands (HP:0010286)2.31588463
78Tongue fasciculations (HP:0001308)2.31513857
79Abnormality of proline metabolism (HP:0010907)2.30694623
80Hydroxyprolinuria (HP:0003080)2.30694623
81Hyperglycinuria (HP:0003108)2.29344701
82Abnormality of the 1st metacarpal (HP:0010009)2.28454976
83Abnormality of chloride homeostasis (HP:0011422)2.25841803
84Ventricular tachycardia (HP:0004756)2.25327496
85Widely spaced teeth (HP:0000687)2.24586001
86Abnormality of the renal medulla (HP:0100957)2.23902744
87Shawl scrotum (HP:0000049)2.22600428
88Impulsivity (HP:0100710)2.19796674
89Tubular atrophy (HP:0000092)2.18540560
90Enlarged kidneys (HP:0000105)2.18323519
91Cerebellar dysplasia (HP:0007033)2.18190551
92Absent speech (HP:0001344)2.17666616
93Abnormality of potassium homeostasis (HP:0011042)2.17514139
94Ragged-red muscle fibers (HP:0003200)2.16249931
95Fused cervical vertebrae (HP:0002949)2.15173698
96Partial duplication of the phalanx of hand (HP:0009999)2.14716566
97Woolly hair (HP:0002224)2.12213471
98Pili torti (HP:0003777)2.08909601
99Hereditary nonpolyposis colorectal carcinoma (HP:0006716)2.07942084
100Rhabdomyosarcoma (HP:0002859)2.07399471
101Abnormal albumin level (HP:0012116)2.07342523
102Hypoalbuminemia (HP:0003073)2.07342523
103Congenital stationary night blindness (HP:0007642)2.07188007
104Dialeptic seizures (HP:0011146)2.07097385
105Broad-based gait (HP:0002136)2.06813717
106Muscle fibrillation (HP:0010546)2.06190553
107Biliary tract neoplasm (HP:0100574)2.04678258
108Testicular atrophy (HP:0000029)2.04550611
109Hyperaldosteronism (HP:0000859)2.02926374
110Large earlobe (HP:0009748)2.02456821
111Neoplasm of striated muscle (HP:0009728)2.02330781
112Abnormality of the nasal septum (HP:0000419)2.01405591
113Tubulointerstitial nephritis (HP:0001970)2.00500406
114Postural instability (HP:0002172)1.98199105
115Autoimmune hemolytic anemia (HP:0001890)1.95900218
116Malignant gastrointestinal tract tumors (HP:0006749)1.95167521
117Gastrointestinal carcinoma (HP:0002672)1.95167521
118Astrocytoma (HP:0009592)1.94861772
119Abnormality of the astrocytes (HP:0100707)1.94861772
120Abnormality of the vitamin B12 metabolism (HP:0004341)1.94825392
121Portal hypertension (HP:0001409)1.94485961
122Preaxial foot polydactyly (HP:0001841)1.90927203
123Congenital sensorineural hearing impairment (HP:0008527)1.90571240
124Intrahepatic cholestasis (HP:0001406)1.90475913
125Focal seizures (HP:0007359)1.90237143
126Uterine neoplasm (HP:0010784)1.88001042
127Abnormality of midbrain morphology (HP:0002418)1.86599931
128Molar tooth sign on MRI (HP:0002419)1.86599931
129Abnormality of the distal phalanges of the toes (HP:0010182)1.85849569
130Abnormality of the fingertips (HP:0001211)1.85669951
131Blue irides (HP:0000635)1.84850449
132Abnormality of the hepatic vasculature (HP:0006707)1.84434841
133Nephronophthisis (HP:0000090)1.83312175
134Congenital hepatic fibrosis (HP:0002612)1.83098948
135Symphalangism affecting the phalanges of the hand (HP:0009773)1.82752349
136Absence seizures (HP:0002121)1.82560903
137Tetraplegia (HP:0002445)1.82158220
138Hypokalemia (HP:0002900)1.81271386
139Petechiae (HP:0000967)1.81049377
140Hypoplastic labia majora (HP:0000059)1.80098739
141Hematochezia (HP:0002573)1.79923107
142Truncal obesity (HP:0001956)1.79547422
143Hypoplastic scapulae (HP:0000882)1.78495834
144Aplasia/Hypoplasia of the scapulae (HP:0006713)1.78495834
145Abnormality of carpal bone ossification (HP:0006257)1.78309079
146Tracheal stenosis (HP:0002777)1.77849100
147Abnormality of vitamin metabolism (HP:0100508)1.77575760
148Milia (HP:0001056)1.77408336
149Abnormality of the labia majora (HP:0012881)1.77337165
150Ventricular fibrillation (HP:0001663)1.76980053
151Pigmentary retinal degeneration (HP:0001146)1.75483391
152Clubbing of toes (HP:0100760)1.75438914
153Abolished electroretinogram (ERG) (HP:0000550)1.75404200
154Sandal gap (HP:0001852)1.74752926
155Submucous cleft hard palate (HP:0000176)1.74439793
156Progressive inability to walk (HP:0002505)1.74362871
157Abnormality of vitamin B metabolism (HP:0004340)1.74116451
158Short chin (HP:0000331)1.73891483
159Renal cortical cysts (HP:0000803)1.73682717
160Acute myeloid leukemia (HP:0004808)1.73024862
161Periauricular skin pits (HP:0100277)1.72818826
162Preauricular pit (HP:0004467)1.72818826
163Hand muscle atrophy (HP:0009130)1.72652886
164Hyperparathyroidism (HP:0000843)1.72467601
165Abnormal drinking behavior (HP:0030082)1.72309497
166Polydipsia (HP:0001959)1.72309497
167Fasciculations (HP:0002380)1.71618832
168Abnormality of the gastric mucosa (HP:0004295)1.71500456
169Keratoconus (HP:0000563)1.71337566
170Increased corneal curvature (HP:0100692)1.71337566
171Horizontal nystagmus (HP:0000666)1.70215464
172Rectovaginal fistula (HP:0000143)1.70170620
173Rectal fistula (HP:0100590)1.70170620
174Intestinal fistula (HP:0100819)1.70030591
175Furrowed tongue (HP:0000221)1.68344939
176Cupped ear (HP:0000378)1.67650385
177Inability to walk (HP:0002540)1.67379577
178Abnormal ciliary motility (HP:0012262)1.66145134
179Chromosomal breakage induced by crosslinking agents (HP:0003221)1.65054879
180Medial flaring of the eyebrow (HP:0010747)1.64628951
181Hip dysplasia (HP:0001385)1.63610343
182Macular degeneration (HP:0000608)1.63331397
183Hypopigmentation of the fundus (HP:0007894)1.63181005
184Abnormality of the ischium (HP:0003174)1.62719938
185Chromsome breakage (HP:0040012)1.62670869
186Poor coordination (HP:0002370)1.62562322
187Tubulointerstitial abnormality (HP:0001969)1.62421420
188Progressive visual loss (HP:0000529)1.61642515
189Amelogenesis imperfecta (HP:0000705)1.61527170
190Increased density of long bones (HP:0006392)1.61367508
191Spastic paraplegia (HP:0001258)1.60700233
192Hyperalaninemia (HP:0003348)1.59880938

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CDK125.43969923
2LMTK24.78871390
3FRK4.73091361
4GRK64.60229113
5ACVR1B4.28871609
6MST43.76494187
7ERN13.43919947
8PRKG23.33450047
9GRK52.90616847
10BMPR1B2.79570935
11GRK12.54010472
12MST1R2.46384385
13TTK2.39511491
14STK102.30315064
15EPHA22.22815234
16AKT32.10984895
17MATK2.10333326
18MAP3K102.05863367
19PIK3CG2.03259124
20BRD41.75068014
21RIPK11.67392619
22MAP2K21.64661275
23NME11.60878008
24BLK1.58557220
25ADRBK21.52489571
26TYRO31.47542722
27CAMK1D1.43665894
28CAMK1G1.39367815
29CSF1R1.37083099
30MKNK21.36066064
31PAK41.33288380
32INSRR1.27157378
33STK38L1.23365625
34TEC1.23057897
35TGFBR21.21999708
36PTK61.20408064
37CAMKK21.20022351
38NLK1.19600414
39SGK21.18800433
40TESK11.14703459
41MAP2K61.10588573
42PRKCI1.10043266
43MYLK1.06200816
44LATS11.05934545
45NTRK31.03889834
46TRPM71.02875625
47MAPK71.01433280
48MAP3K21.00874850
49MAP3K70.93922314
50STK390.92918115
51WNK30.92740920
52EPHB20.92009226
53ERBB20.91753147
54IRAK10.91651411
55WNK10.90974083
56CDK70.90556143
57PTK20.87973382
58MET0.87417072
59NUAK10.86488367
60GRK70.85183787
61PIK3CA0.85053727
62STK380.84831648
63ZAK0.84346793
64TNK20.83001033
65MAPK130.82434463
66BRSK20.82162145
67TGFBR10.79982715
68MOS0.76559616
69MAP3K40.74322654
70TAOK10.73660651
71DDR20.72049861
72MAP3K80.70777585
73PTK2B0.70666771
74CHEK20.68545380
75KIT0.67241480
76MAP4K20.65737351
77CSK0.65410516
78AURKB0.65047033
79TESK20.64209953
80DAPK20.63726212
81SGK4940.63332742
82SGK2230.63332742
83RPS6KB20.61916610
84FGFR30.60122676
85OBSCN0.59953714
86AKT20.59854344
87ITK0.59704577
88BTK0.59508800
89NTRK10.59452705
90CAMK40.58467377
91EEF2K0.58163098
92JAK10.56882233
93TXK0.56178496
94SGK30.54656970
95PRKAA20.53595434
96SGK10.52645764
97EPHA30.52499936
98ADRBK10.51529754
99PRKCE0.51236821
100PRKAA10.51223967
101SYK0.49974500
102SCYL20.48969315
103STK30.48786973
104TNIK0.48620412
105STK110.48424092
106BMX0.47797835
107CASK0.47592893
108CHUK0.47115445
109MARK20.46966997
110OXSR10.46071902
111MKNK10.45278699
112MARK30.44847102
113WNK40.44840504
114PAK10.44398347
115PLK10.43574800
116KSR20.42543189
117FGFR20.42398280
118MAP3K90.42153014
119PINK10.40583784
120HCK0.39969073
121PDK20.39225486
122PDGFRB0.38351308
123RET0.38130629
124CAMK10.37668836
125JAK20.37169597
126IKBKE0.34928758
127NEK60.34700125
128ALK0.34023852
129IKBKB0.34021385
130LYN0.33534013
131PDGFRA0.33463955
132PDPK10.32556905
133FES0.32375065
134PAK20.31900400
135MAPK110.31716403
136LCK0.31687507
137DYRK1A0.31686706
138FER0.30782103
139MELK0.30193567
140MAP2K10.28969670
141DMPK0.28175145
142MAPKAPK20.27799567
143FLT30.27698743
144PRKACB0.26739509
145MAP3K30.26703783
146MAPKAPK30.26596278
147PKN20.26418321
148CHEK10.25967574
149MAP3K140.25554239
150MAPK10.25218965
151PAK30.25167494
152CAMK2A0.25073001
153EPHA40.24966877
154NEK20.24537019
155ICK0.24189656
156HIPK20.23685535
157PRKCD0.22537025
158LRRK20.22112294
159CSNK1E0.21985386
160PDK10.21489313
161DYRK1B0.21438266
162MTOR0.20972856
163PRKACG0.20259033
164GSK3A0.19945107
165SRC0.19261181
166TAOK30.18424006
167IGF1R0.18067907
168LIMK10.16898954
169CSNK1A10.13695528

Predicted pathways (KEGG)

RankGene SetZ-score
1Fat digestion and absorption_Homo sapiens_hsa049754.45952025
2Butirosin and neomycin biosynthesis_Homo sapiens_hsa005244.34839725
3Mineral absorption_Homo sapiens_hsa049783.83631066
4Sulfur metabolism_Homo sapiens_hsa009203.72935081
5Galactose metabolism_Homo sapiens_hsa000523.52306670
6Renin-angiotensin system_Homo sapiens_hsa046143.50831153
7Fructose and mannose metabolism_Homo sapiens_hsa000513.47339371
8Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.64185291
9Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.54694393
10Vitamin digestion and absorption_Homo sapiens_hsa049772.53105005
11Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005122.33114367
12Steroid hormone biosynthesis_Homo sapiens_hsa001402.26049667
13Bile secretion_Homo sapiens_hsa049762.20011611
14Protein digestion and absorption_Homo sapiens_hsa049742.04193519
15Starch and sucrose metabolism_Homo sapiens_hsa005002.02479862
16Pentose and glucuronate interconversions_Homo sapiens_hsa000402.00202515
17Caffeine metabolism_Homo sapiens_hsa002321.94293773
18Butanoate metabolism_Homo sapiens_hsa006501.94003684
19Vitamin B6 metabolism_Homo sapiens_hsa007501.83675862
20Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.82562977
21Folate biosynthesis_Homo sapiens_hsa007901.81287119
22Primary bile acid biosynthesis_Homo sapiens_hsa001201.79017707
23Carbohydrate digestion and absorption_Homo sapiens_hsa049731.75247563
24Histidine metabolism_Homo sapiens_hsa003401.63552056
25Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.61597703
26Maturity onset diabetes of the young_Homo sapiens_hsa049501.61066860
27Dorso-ventral axis formation_Homo sapiens_hsa043201.58222636
28alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.55603949
29Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.46160425
30Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.42199565
31Arachidonic acid metabolism_Homo sapiens_hsa005901.39406655
32Taste transduction_Homo sapiens_hsa047421.37665756
33Linoleic acid metabolism_Homo sapiens_hsa005911.35584013
34Tryptophan metabolism_Homo sapiens_hsa003801.30304960
35Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.26783308
36Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.26560541
37Glycerolipid metabolism_Homo sapiens_hsa005611.15543074
38Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.15352009
39Thyroid cancer_Homo sapiens_hsa052161.15042140
40Tight junction_Homo sapiens_hsa045301.14100844
41Fatty acid biosynthesis_Homo sapiens_hsa000611.13516769
42Pentose phosphate pathway_Homo sapiens_hsa000301.11449441
43Complement and coagulation cascades_Homo sapiens_hsa046101.08948130
44Ovarian steroidogenesis_Homo sapiens_hsa049131.07694155
45Phototransduction_Homo sapiens_hsa047441.04798344
46Platelet activation_Homo sapiens_hsa046111.00914951
47PPAR signaling pathway_Homo sapiens_hsa033200.97786345
48Calcium signaling pathway_Homo sapiens_hsa040200.97276684
49Nicotine addiction_Homo sapiens_hsa050330.96315927
50Staphylococcus aureus infection_Homo sapiens_hsa051500.94251964
51Morphine addiction_Homo sapiens_hsa050320.92512903
52Olfactory transduction_Homo sapiens_hsa047400.90303236
53Cyanoamino acid metabolism_Homo sapiens_hsa004600.88980010
54Serotonergic synapse_Homo sapiens_hsa047260.88474323
55Homologous recombination_Homo sapiens_hsa034400.88402304
56Glutathione metabolism_Homo sapiens_hsa004800.87938612
57Type II diabetes mellitus_Homo sapiens_hsa049300.86729878
58Renin secretion_Homo sapiens_hsa049240.86425263
59FoxO signaling pathway_Homo sapiens_hsa040680.86383690
60Propanoate metabolism_Homo sapiens_hsa006400.86322223
61Glycerophospholipid metabolism_Homo sapiens_hsa005640.85932991
62Glutamatergic synapse_Homo sapiens_hsa047240.83784314
63Circadian rhythm_Homo sapiens_hsa047100.79438328
64Leukocyte transendothelial migration_Homo sapiens_hsa046700.77900279
65Sphingolipid metabolism_Homo sapiens_hsa006000.77723268
66Circadian entrainment_Homo sapiens_hsa047130.76430595
67Nitrogen metabolism_Homo sapiens_hsa009100.76346615
68Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.74838811
69Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.72432166
70Carbon metabolism_Homo sapiens_hsa012000.72367759
71Long-term depression_Homo sapiens_hsa047300.71319281
72ABC transporters_Homo sapiens_hsa020100.69949778
73Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.69920304
74Inositol phosphate metabolism_Homo sapiens_hsa005620.68352009
75Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.68288247
76Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.67469174
77Chemical carcinogenesis_Homo sapiens_hsa052040.67009013
78Arginine and proline metabolism_Homo sapiens_hsa003300.66073096
79Fanconi anemia pathway_Homo sapiens_hsa034600.63896162
80Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.63385447
81Cholinergic synapse_Homo sapiens_hsa047250.63378725
82Insulin resistance_Homo sapiens_hsa049310.63137110
83Intestinal immune network for IgA production_Homo sapiens_hsa046720.62852286
84Jak-STAT signaling pathway_Homo sapiens_hsa046300.61911178
85Adherens junction_Homo sapiens_hsa045200.61531849
86Fatty acid degradation_Homo sapiens_hsa000710.61149550
87Oxytocin signaling pathway_Homo sapiens_hsa049210.60568522
88Graft-versus-host disease_Homo sapiens_hsa053320.60092635
89Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.60037930
90cGMP-PKG signaling pathway_Homo sapiens_hsa040220.59407784
91Pancreatic secretion_Homo sapiens_hsa049720.58367717
92Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.55080528
93Ether lipid metabolism_Homo sapiens_hsa005650.54246002
94Bladder cancer_Homo sapiens_hsa052190.52673312
95Phosphatidylinositol signaling system_Homo sapiens_hsa040700.51683650
96Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.50549459
97NOD-like receptor signaling pathway_Homo sapiens_hsa046210.50373838
98cAMP signaling pathway_Homo sapiens_hsa040240.49916036
99Arginine biosynthesis_Homo sapiens_hsa002200.49261479
100Hepatitis C_Homo sapiens_hsa051600.47440669
101Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.47191592
1022-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.46824312
103Other glycan degradation_Homo sapiens_hsa005110.46072120
104Aldosterone synthesis and secretion_Homo sapiens_hsa049250.45820567
105Longevity regulating pathway - mammal_Homo sapiens_hsa042110.44811052
106Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.43736449
107Regulation of autophagy_Homo sapiens_hsa041400.42231832
108GABAergic synapse_Homo sapiens_hsa047270.40449392
109Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.39727946
110Selenocompound metabolism_Homo sapiens_hsa004500.39628018
111Prolactin signaling pathway_Homo sapiens_hsa049170.39301776
112Adipocytokine signaling pathway_Homo sapiens_hsa049200.39231942
113B cell receptor signaling pathway_Homo sapiens_hsa046620.38384814
114Central carbon metabolism in cancer_Homo sapiens_hsa052300.38062020
115Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.37990577
116RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.37763001
117African trypanosomiasis_Homo sapiens_hsa051430.37063892
118Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.36548116
119Choline metabolism in cancer_Homo sapiens_hsa052310.33341387
120Sulfur relay system_Homo sapiens_hsa041220.30927140
121Thyroid hormone synthesis_Homo sapiens_hsa049180.30674091
122Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.30632267
123Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.29678126
124Metabolic pathways_Homo sapiens_hsa011000.28976293
125Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.26895635
126Regulation of actin cytoskeleton_Homo sapiens_hsa048100.26830967
127Pyruvate metabolism_Homo sapiens_hsa006200.25691105
128Salmonella infection_Homo sapiens_hsa051320.24931660
129Retinol metabolism_Homo sapiens_hsa008300.24573593
130Biosynthesis of amino acids_Homo sapiens_hsa012300.24508264
131Lysine degradation_Homo sapiens_hsa003100.22890799
132mTOR signaling pathway_Homo sapiens_hsa041500.22836412
133Drug metabolism - other enzymes_Homo sapiens_hsa009830.22632737
134Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.22450464
135beta-Alanine metabolism_Homo sapiens_hsa004100.20482811
136Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.18748002
137Salivary secretion_Homo sapiens_hsa049700.17574935
138Transcriptional misregulation in cancer_Homo sapiens_hsa052020.17573717
139Apoptosis_Homo sapiens_hsa042100.15256910
140Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.14528625
141Influenza A_Homo sapiens_hsa051640.14161299
142Vascular smooth muscle contraction_Homo sapiens_hsa042700.14057375
143GnRH signaling pathway_Homo sapiens_hsa049120.13911448
144Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.13237354
145Phospholipase D signaling pathway_Homo sapiens_hsa040720.13164378
146Gastric acid secretion_Homo sapiens_hsa049710.12836103
147VEGF signaling pathway_Homo sapiens_hsa043700.12116308
148AMPK signaling pathway_Homo sapiens_hsa041520.10916087

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