ABO

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 encodes proteins related to the first discovered blood group system, ABO. Which allele is present in an individual determines the blood group. The 'O' blood group is caused by a deletion of guanine-258 near the N-terminus of the protein which results in a frameshift and translation of an almost entirely different protein. Individuals with the A, B, and AB alleles express glycosyltransferase activities that convert the H antigen into the A or B antigen. Other minor alleles have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1ovulation cycle (GO:0042698)8.59088192
2beta-amyloid metabolic process (GO:0050435)8.10794691
3response to testosterone (GO:0033574)7.90082633
4angiotensin maturation (GO:0002003)7.66066646
5intestinal epithelial cell development (GO:0060576)7.29180154
6prostate gland epithelium morphogenesis (GO:0060740)7.18900916
7epithelial cell maturation (GO:0002070)7.02071211
8replicative senescence (GO:0090399)6.42708140
9COPI coating of Golgi vesicle (GO:0048205)6.41950616
10Golgi transport vesicle coating (GO:0048200)6.41950616
11regulation of clathrin-mediated endocytosis (GO:2000369)6.15527130
12N-acetylneuraminate metabolic process (GO:0006054)6.06892505
13epithelial cell differentiation involved in prostate gland development (GO:0060742)5.85259552
14mannose metabolic process (GO:0006013)5.66859947
15artery development (GO:0060840)5.63638460
16regulation of calcium ion-dependent exocytosis (GO:0017158)5.53123394
17regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)5.45978583
18regulation of calcium ion import (GO:0090279)5.18503100
19ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)5.17038610
20transcytosis (GO:0045056)5.14736167
21regulation of guanylate cyclase activity (GO:0031282)4.99899172
22valine metabolic process (GO:0006573)4.99691598
23thrombin receptor signaling pathway (GO:0070493)4.97482200
24cilium or flagellum-dependent cell motility (GO:0001539)4.97309541
25maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.91891010
26regulation of receptor binding (GO:1900120)4.69184536
27fucose metabolic process (GO:0006004)4.62404462
28activation of signaling protein activity involved in unfolded protein response (GO:0006987)4.55826827
29positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)4.45838182
30sulfate transmembrane transport (GO:1902358)4.43905249
31nucleotide-sugar metabolic process (GO:0009225)4.42505969
32protein retention in ER lumen (GO:0006621)4.39186154
33positive regulation of nuclease activity (GO:0032075)4.34803791
34regulation of memory T cell differentiation (GO:0043380)4.26686169
35COPII vesicle coating (GO:0048208)4.17189896
36mitotic cell cycle arrest (GO:0071850)4.12774602
37L-serine transport (GO:0015825)4.06081070
38negative regulation of receptor-mediated endocytosis (GO:0048261)4.02122394
39definitive hemopoiesis (GO:0060216)4.00678257
40positive regulation of guanylate cyclase activity (GO:0031284)3.95314205
41glycoside metabolic process (GO:0016137)3.94096960
42regulation of nuclease activity (GO:0032069)3.93611335
43lung secretory cell differentiation (GO:0061140)3.90377271
44negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)3.88832567
45positive regulation of steroid hormone secretion (GO:2000833)3.84234353
46regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022353.83956705
47protein targeting to Golgi (GO:0000042)3.83849993
48antibacterial humoral response (GO:0019731)3.81972380
49transepithelial transport (GO:0070633)3.79675296
50endoplasmic reticulum unfolded protein response (GO:0030968)3.74475626
51pharyngeal system development (GO:0060037)3.73826474
52response to UV-B (GO:0010224)3.72778602
53regulation of pH (GO:0006885)3.72062381
54regulation of triglyceride catabolic process (GO:0010896)3.70804327
55glucosamine-containing compound metabolic process (GO:1901071)3.69476477
56epoxygenase P450 pathway (GO:0019373)3.66929053
57positive regulation of respiratory burst (GO:0060267)3.66381087
58anterior/posterior axis specification, embryo (GO:0008595)3.64097089
59cellular response to unfolded protein (GO:0034620)3.63077536
60cellular response to zinc ion (GO:0071294)3.60906525
61glandular epithelial cell differentiation (GO:0002067)3.57482460
62retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)3.57284554
63innate immune response in mucosa (GO:0002227)3.56436206
64drug catabolic process (GO:0042737)3.54187618
65ER-nucleus signaling pathway (GO:0006984)3.53831889
66regulation of cell-cell adhesion mediated by cadherin (GO:2000047)3.52194839
67antimicrobial humoral response (GO:0019730)3.50547130
68intestinal absorption (GO:0050892)3.48732295
69retrograde transport, vesicle recycling within Golgi (GO:0000301)3.47974230
70regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)3.47806616
71serine transport (GO:0032329)3.47774407
72vesicle coating (GO:0006901)3.45816763
73axonemal dynein complex assembly (GO:0070286)3.45056514
74sulfate transport (GO:0008272)3.43380315
75establishment of protein localization to Golgi (GO:0072600)3.38702699
76response to endoplasmic reticulum stress (GO:0034976)3.35701498
77drug metabolic process (GO:0017144)3.35637530
78regulation of cGMP biosynthetic process (GO:0030826)3.34436852
79detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)3.32810426
80phosphatidylinositol acyl-chain remodeling (GO:0036149)3.32587659
81flavonoid metabolic process (GO:0009812)3.32425068
82cellular response to topologically incorrect protein (GO:0035967)3.32021028
83phosphatidylserine acyl-chain remodeling (GO:0036150)3.31444477
84ethanol oxidation (GO:0006069)3.27714756
85exogenous drug catabolic process (GO:0042738)3.25636716
86one-carbon compound transport (GO:0019755)3.24074751
87pyrimidine-containing compound transmembrane transport (GO:0072531)3.24068480
88epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.23898919
89mitochondrial calcium ion transport (GO:0006851)3.22519910
90negative regulation of calcium ion transport (GO:0051926)3.15335699
91vitamin transmembrane transport (GO:0035461)3.15013160
92thyroid hormone metabolic process (GO:0042403)3.13486674
93cytoskeletal anchoring at plasma membrane (GO:0007016)3.13294482
94axoneme assembly (GO:0035082)3.11282755
95regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.11094035
96cilium movement (GO:0003341)3.10133706
97protein N-linked glycosylation via asparagine (GO:0018279)3.09590842
98L-fucose catabolic process (GO:0042355)3.08845160
99fucose catabolic process (GO:0019317)3.08845160
100L-fucose metabolic process (GO:0042354)3.08845160
101galactose catabolic process (GO:0019388)3.07594242
102peptidyl-asparagine modification (GO:0018196)3.07058611
103retinal ganglion cell axon guidance (GO:0031290)3.06527820
104negative regulation of glycogen biosynthetic process (GO:0045719)3.04960028
105NAD biosynthetic process (GO:0009435)3.01907319
106mucosal immune response (GO:0002385)3.01764649
107sulfation (GO:0051923)3.00462562
108short-chain fatty acid metabolic process (GO:0046459)2.99836604
109sulfur amino acid catabolic process (GO:0000098)2.98875982
110regulation of cellular extravasation (GO:0002691)2.98480992
111negative regulation of ion transmembrane transport (GO:0034766)2.98372112
112positive regulation of vasculogenesis (GO:2001214)2.98017389
113lung cell differentiation (GO:0060479)2.97766634
114intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)2.97149925
115regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)2.97092861
116endocrine process (GO:0050886)2.97092861
117regulation of systemic arterial blood pressure by hormone (GO:0001990)2.97092861
118amino sugar metabolic process (GO:0006040)2.96667577
119alkaloid metabolic process (GO:0009820)2.96654325
120androgen biosynthetic process (GO:0006702)2.94494460
121nucleotide-sugar biosynthetic process (GO:0009226)2.94392795
122indolalkylamine metabolic process (GO:0006586)2.94319135
123branched-chain amino acid metabolic process (GO:0009081)2.92197701
124branching involved in mammary gland duct morphogenesis (GO:0060444)2.92191752
125arginine catabolic process (GO:0006527)2.92122538
126cell aggregation (GO:0098743)2.91712057
127cartilage condensation (GO:0001502)2.91712057
128activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)2.91702532
129positive regulation of glycoprotein metabolic process (GO:1903020)2.91304508
130response to unfolded protein (GO:0006986)2.90164527
131indole-containing compound catabolic process (GO:0042436)2.89286831
132indolalkylamine catabolic process (GO:0046218)2.89286831
133tryptophan catabolic process (GO:0006569)2.89286831
134regulation of pigment cell differentiation (GO:0050932)2.88108312
135lung epithelial cell differentiation (GO:0060487)2.87696023
136fat-soluble vitamin biosynthetic process (GO:0042362)2.87477843
137glutathione derivative biosynthetic process (GO:1901687)2.84610429
138glutathione derivative metabolic process (GO:1901685)2.84610429
139photoreceptor cell maintenance (GO:0045494)2.84553472
140phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)2.83942016
141organ or tissue specific immune response (GO:0002251)2.83034353
142positive regulation of digestive system process (GO:0060456)2.81720346
143ethanol metabolic process (GO:0006067)2.81336483
144autophagic vacuole fusion (GO:0000046)2.78341419
145benzene-containing compound metabolic process (GO:0042537)2.77559022
146cellular glucuronidation (GO:0052695)2.77350385
147uronic acid metabolic process (GO:0006063)2.75466497
148glucuronate metabolic process (GO:0019585)2.75466497
149interkinetic nuclear migration (GO:0022027)2.73714892
150arginine metabolic process (GO:0006525)2.71053078
151quinone biosynthetic process (GO:1901663)2.69035727
152high-density lipoprotein particle remodeling (GO:0034375)2.68275661
153O-glycan processing (GO:0016266)2.66112410
154ADP metabolic process (GO:0046031)2.65816919
155bile acid and bile salt transport (GO:0015721)2.62925113
156digestion (GO:0007586)2.62884951
157positive regulation of granulocyte differentiation (GO:0030854)2.61913633
158regulation of female receptivity (GO:0045924)2.61826343
159positive regulation of cGMP biosynthetic process (GO:0030828)2.61331466
160bile acid metabolic process (GO:0008206)2.61274707
161receptor guanylyl cyclase signaling pathway (GO:0007168)2.61069266
162leukotriene metabolic process (GO:0006691)2.60746911
163cellular ketone body metabolic process (GO:0046950)2.60075130
164lipoprotein transport (GO:0042953)2.60012458
165phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.59612613
166regulation of MHC class I biosynthetic process (GO:0045343)2.58859456
167regulation of platelet aggregation (GO:0090330)2.58556885
168cGMP biosynthetic process (GO:0006182)2.58550955
169motile cilium assembly (GO:0044458)2.58363070
170sex differentiation (GO:0007548)2.57743712
171phosphatidylglycerol acyl-chain remodeling (GO:0036148)2.55202013
172regulation of female gonad development (GO:2000194)2.53838451
173tryptophan metabolic process (GO:0006568)2.53761655
174epithelial cilium movement (GO:0003351)2.53214317
175fucosylation (GO:0036065)2.49047679
176regulation of cGMP metabolic process (GO:0030823)2.48878718
177regulation of systemic arterial blood pressure (GO:0003073)2.45183110
178thyroid hormone generation (GO:0006590)2.44493312
179cellular biogenic amine catabolic process (GO:0042402)2.44484240
180amine catabolic process (GO:0009310)2.44484240
181digestive system process (GO:0022600)2.43730854
182vitamin A metabolic process (GO:0006776)2.43582972
183sulfur compound transport (GO:0072348)2.42092124
184peptide catabolic process (GO:0043171)2.41932920
185maintenance of gastrointestinal epithelium (GO:0030277)2.41656840
186regulation of vasculogenesis (GO:2001212)2.41104623
187L-ascorbic acid metabolic process (GO:0019852)2.40972209
188xenobiotic metabolic process (GO:0006805)2.38948275
189endothelium development (GO:0003158)2.38801275
190branching involved in prostate gland morphogenesis (GO:0060442)11.4047244
191regulation of acrosome reaction (GO:0060046)10.9650620
192prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:00605210.7346179
193UDP-N-acetylglucosamine metabolic process (GO:0006047)10.4714055

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ZNF263_19887448_ChIP-Seq_K562_Human3.88191968
2FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human3.86785441
3VDR_22108803_ChIP-Seq_LS180_Human3.68838783
4ESR2_21235772_ChIP-Seq_MCF-7_Human3.65425785
5ZNF217_24962896_ChIP-Seq_MCF-7_Human3.46356387
6SOX2_27498859_Chip-Seq_STOMACH_Mouse3.25016317
7ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.18661817
8KLF2_18264089_ChIP-ChIP_MESCs_Mouse3.15177676
9KLF5_18264089_ChIP-ChIP_MESCs_Mouse3.15177676
10KLF4_18264089_ChIP-ChIP_MESCs_Mouse3.15177676
11ESR1_21235772_ChIP-Seq_MCF-7_Human3.06711479
12SCL_19346495_ChIP-Seq_HPC-7_Human3.05426672
13FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human2.88093591
14STAT6_21828071_ChIP-Seq_BEAS2B_Human2.79632802
15IRF8_22096565_ChIP-ChIP_GC-B_Human2.78552935
16SOX2_20726797_ChIP-Seq_SW620_Human2.78347891
17GATA1_22025678_ChIP-Seq_K562_Human2.55374376
18GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.49788632
19STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.49563770
20GATA1_19941826_ChIP-Seq_K562_Human2.42697077
21ESR1_20079471_ChIP-ChIP_T-47D_Human2.40094159
22AR_21915096_ChIP-Seq_LNCaP-1F5_Human2.39795948
23AHR_22903824_ChIP-Seq_MCF-7_Human2.17942129
24GATA6_25053715_ChIP-Seq_YYC3_Human2.17726895
25FOXO3_23340844_ChIP-Seq_DLD1_Human2.12927586
26STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.09429490
27CDX2_19796622_ChIP-Seq_MESCs_Mouse2.04303000
28* GATA4_25053715_ChIP-Seq_YYC3_Human2.03335523
29GATA3_24758297_ChIP-Seq_MCF-7_Human2.02631959
30ARNT_22903824_ChIP-Seq_MCF-7_Human2.02599973
31FOXA2_19822575_ChIP-Seq_HepG2_Human2.01985829
32EGR1_23403033_ChIP-Seq_LIVER_Mouse2.00144420
33SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human2.00015780
34SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.99061629
35CTNNB1_20460455_ChIP-Seq_HCT116_Human1.98833456
36LXR_22158963_ChIP-Seq_LIVER_Mouse1.97715235
37* RUNX1_27514584_Chip-Seq_MCF-7_Human1.96677487
38IGF1R_20145208_ChIP-Seq_DFB_Human1.96557805
39RXR_22158963_ChIP-Seq_LIVER_Mouse1.95484369
40CLOCK_20551151_ChIP-Seq_293T_Human1.93653190
41ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.93498839
42PPARA_22158963_ChIP-Seq_LIVER_Mouse1.90708213
43ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.89503730
44AR_21909140_ChIP-Seq_LNCAP_Human1.88524519
45GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.88043127
46TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.87538710
47POU3F2_20337985_ChIP-ChIP_501MEL_Human1.87424175
48LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.85585800
49ER_23166858_ChIP-Seq_MCF-7_Human1.84176515
50CHD1_26751641_Chip-Seq_LNCaP_Human1.76934748
51SALL1_21062744_ChIP-ChIP_HESCs_Human1.76320891
52DROSHA_22980978_ChIP-Seq_HELA_Human1.72175451
53BCAT_22108803_ChIP-Seq_LS180_Human1.69699649
54NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.65584980
55GBX2_23144817_ChIP-Seq_PC3_Human1.65059486
56PPAR_26484153_Chip-Seq_NCI-H1993_Human1.60939206
57CDX2_20551321_ChIP-Seq_CACO-2_Human1.59145860
58BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.56927602
59FOXM1_26456572_ChIP-Seq_MCF-7_Human1.56326691
60SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.55040410
61PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.54752287
62GATA2_21666600_ChIP-Seq_HMVEC_Human1.53197029
63CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.52499511
64RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.50965698
65ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.48088297
66CREB1_26743006_Chip-Seq_LNCaP_Human1.47512860
67EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.47061485
68HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.46415271
69HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.44174053
70FOXA1_21572438_ChIP-Seq_LNCaP_Human1.43298428
71KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.42889600
72NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.40749071
73NR3C1_21868756_ChIP-Seq_MCF10A_Human1.38880568
74ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.37243874
75EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.36368946
76TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.35106949
77CTBP2_25329375_ChIP-Seq_LNCAP_Human1.33999670
78SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.33828799
79SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.33828799
80STAT1_20625510_ChIP-Seq_HELA_Human1.33683692
81TCF4_18268006_ChIP-ChIP_LS174T_Human1.30937509
82CEBPB_22108803_ChIP-Seq_LS180_Human1.28999367
83SPI1_23127762_ChIP-Seq_K562_Human1.28812387
84STAT3_23295773_ChIP-Seq_U87_Human1.28576678
85SOX9_24532713_ChIP-Seq_HFSC_Mouse1.28277968
86LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.27310859
87CDX2_22108803_ChIP-Seq_LS180_Human1.27163764
88ELF5_23300383_ChIP-Seq_T47D_Human1.26284145
89ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.25642270
90FOXA1_27270436_Chip-Seq_PROSTATE_Human1.25258368
91FOXA1_25329375_ChIP-Seq_VCAP_Human1.25258368
92* GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.25234194
93TCF4_23295773_ChIP-Seq_U87_Human1.25048708
94SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.24129129
95AR_20517297_ChIP-Seq_VCAP_Human1.23189410
96RACK7_27058665_Chip-Seq_MCF-7_Human1.21137757
97POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.20410972
98GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.19963835
99PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.19950592
100TP63_17297297_ChIP-ChIP_HaCaT_Human1.18173749
101VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.17957368
102CTBP1_25329375_ChIP-Seq_LNCAP_Human1.17854885
103MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.17734836
104IRF8_21731497_ChIP-ChIP_J774_Mouse1.17223143
105ETV1_20927104_ChIP-Seq_GIST48_Human1.16588098
106TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.16464743
107TAF15_26573619_Chip-Seq_HEK293_Human1.15691288
108SMAD4_21799915_ChIP-Seq_A2780_Human1.15038669
109TCF4_22108803_ChIP-Seq_LS180_Human1.14610030
110TBX20_22328084_ChIP-Seq_HEART_Mouse1.12706010
111TBX20_22080862_ChIP-Seq_HEART_Mouse1.12706010
112GATA3_21878914_ChIP-Seq_MCF-7_Human1.12351118
113PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.11439599
114NANOG_18555785_ChIP-Seq_MESCs_Mouse1.11356207
115FOXA1_25552417_ChIP-Seq_VCAP_Human1.10978825
116OCT1_27270436_Chip-Seq_PROSTATE_Human1.10778514
117RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.10327442
118PIAS1_25552417_ChIP-Seq_VCAP_Human1.10326059
119PRDM14_20953172_ChIP-Seq_ESCs_Human1.09411718
120TRIM28_21343339_ChIP-Seq_HEK293_Human1.09088090
121NFYB_21822215_ChIP-Seq_K562_Human1.08952644
122ETV2_25802403_ChIP-Seq_MESCs_Mouse1.08688686
123HNFA_21074721_ChIP-Seq_CACO-2_Human1.07938901
124SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.07473169
125NANOG_20526341_ChIP-Seq_ESCs_Human1.07309235
126PHF8_20622853_ChIP-Seq_HELA_Human1.07086831
127NCOR_22424771_ChIP-Seq_293T_Human1.06318343
128SALL4_18804426_ChIP-ChIP_XEN_Mouse1.06226592
129NFYA_21822215_ChIP-Seq_K562_Human1.06023956
130AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.05957985
131PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.05911557
132IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.05690595
133CBP_20019798_ChIP-Seq_JUKART_Human1.05690595
134FLI1_27457419_Chip-Seq_LIVER_Mouse1.04510869
135NANOG_18692474_ChIP-Seq_MEFs_Mouse1.04294893
136UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.03709932
137* TP63_23658742_ChIP-Seq_EP156T_Human1.03160568
138PCGF4_22325352_ChIP-Seq_293T-Rex_Human1.02909512
139TBL1_22424771_ChIP-Seq_293T_Human1.02123125
140IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.01413935
141GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.00851980
142KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.00810832
143MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.00790484
144NANOG_18692474_ChIP-Seq_MESCs_Mouse1.00677059
145RBPJ_21746931_ChIP-Seq_IB4_Human1.00498741
146SMRT_27268052_Chip-Seq_Bcells_Human0.99890808
147FUS_26573619_Chip-Seq_HEK293_Human0.99116388
148GATA1_19941827_ChIP-Seq_MEL_Mouse0.98994861
149TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.98395248
150ZFP57_27257070_Chip-Seq_ESCs_Mouse0.98038353
151PKCTHETA_26484144_Chip-Seq_BREAST_Human0.97609417
152NANOG_19829295_ChIP-Seq_ESCs_Human0.97246320
153SOX2_19829295_ChIP-Seq_ESCs_Human0.97246320
154P53_21459846_ChIP-Seq_SAOS-2_Human0.97187282
155PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.97092071
156P300_19829295_ChIP-Seq_ESCs_Human0.97048516
157CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.96876142
158TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.96347230
159VDR_24787735_ChIP-Seq_THP-1_Human0.95407421
160SMAD3_21741376_ChIP-Seq_HESCs_Human0.95335957
161FOXM1_26100407_CHIP-SEQ_Hek293_flp-in_Human0.94810437
162FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.94756076
163SALL4_18804426_ChIP-ChIP_MESCs_Mouse0.93717062
164FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.91760524
165KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.91274242
166STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse0.91020131
167ZNF274_21170338_ChIP-Seq_K562_Hela0.90963500
168ATF3_27146783_Chip-Seq_COLON_Human0.90307561
169CHD7_19251738_ChIP-ChIP_MESCs_Mouse0.89576010
170HNF4A_19822575_ChIP-Seq_HepG2_Human0.87564916
171YAP1_20516196_ChIP-Seq_MESCs_Mouse0.87315750
172SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.87217744
173FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.86958235
174NANOG_18347094_ChIP-ChIP_MESCs_Mouse0.83437113
175SOX2_18692474_ChIP-Seq_MEFs_Mouse0.80870825
176GATA2_19941826_ChIP-Seq_K562_Human0.80373511
177RXR_22108803_ChIP-Seq_LS180_Human0.80120131

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0010234_abnormal_vibrissa_follicle8.13421050
2MP0010386_abnormal_urinary_bladder6.24170360
3MP0005310_abnormal_salivary_gland4.87840057
4MP0009780_abnormal_chondrocyte_physiolo4.40810284
5MP0004147_increased_porphyrin_level4.35993607
6MP0001873_stomach_inflammation4.05329015
7MP0005360_urolithiasis3.73746128
8MP0004885_abnormal_endolymph3.60649967
9MP0002166_altered_tumor_susceptibility3.44744475
10MP0000537_abnormal_urethra_morphology3.38419386
11MP0005464_abnormal_platelet_physiology3.13479518
12MP0005085_abnormal_gallbladder_physiolo3.08844156
13MP0001485_abnormal_pinna_reflex2.93693332
14MP0008004_abnormal_stomach_pH2.90848248
15MP0005647_abnormal_sex_gland2.85026257
16MP0002009_preneoplasia2.71523481
17MP0002006_tumorigenesis2.60652193
18MP0004264_abnormal_extraembryonic_tissu2.47214076
19MP0000604_amyloidosis2.32166881
20MP0005275_abnormal_skin_tensile2.25071441
21MP0010155_abnormal_intestine_physiology2.18691003
22MP0001765_abnormal_ion_homeostasis2.18185709
23MP0006072_abnormal_retinal_apoptosis2.16341276
24MP0001501_abnormal_sleep_pattern2.09061257
25MP0000858_altered_metastatic_potential2.08926760
26MP0001919_abnormal_reproductive_system2.07461514
27MP0001666_abnormal_nutrient_absorption2.06737772
28MP0008872_abnormal_physiological_respon2.02672713
29MP0005670_abnormal_white_adipose2.02374034
30MP0004947_skin_inflammation1.98778951
31MP0010678_abnormal_skin_adnexa1.97445128
32MP0001545_abnormal_hematopoietic_system1.94836506
33MP0005397_hematopoietic_system_phenotyp1.94836506
34MP0000613_abnormal_salivary_gland1.94831427
35MP0003718_maternal_effect1.93824360
36MP0002909_abnormal_adrenal_gland1.91031084
37MP0003252_abnormal_bile_duct1.89446601
38MP0003866_abnormal_defecation1.89266284
39MP0002139_abnormal_hepatobiliary_system1.83841762
40MP0005646_abnormal_pituitary_gland1.79036192
41MP0001764_abnormal_homeostasis1.74406306
42MP0003724_increased_susceptibility_to1.74057754
43MP0002796_impaired_skin_barrier1.66695647
44MP0003806_abnormal_nucleotide_metabolis1.58642955
45MP0000678_abnormal_parathyroid_gland1.56434461
46MP0000538_abnormal_urinary_bladder1.55280001
47MP0001346_abnormal_lacrimal_gland1.54151439
48MP0001756_abnormal_urination1.49751340
49MP0002132_abnormal_respiratory_system1.48970094
50MP0000681_abnormal_thyroid_gland1.46094614
51MP0000747_muscle_weakness1.42531017
52MP0008995_early_reproductive_senescence1.39775774
53MP0009643_abnormal_urine_homeostasis1.37469472
54MP0005410_abnormal_fertilization1.36057800
55MP0005220_abnormal_exocrine_pancreas1.35513245
56MP0002138_abnormal_hepatobiliary_system1.35448914
57MP0003195_calcinosis1.34646536
58MP0000465_gastrointestinal_hemorrhage1.33061844
59MP0009384_cardiac_valve_regurgitation1.32520469
60MP0004782_abnormal_surfactant_physiolog1.32443259
61MP0004019_abnormal_vitamin_homeostasis1.30559735
62MP0005174_abnormal_tail_pigmentation1.29053943
63MP0003315_abnormal_perineum_morphology1.28993084
64MP0008775_abnormal_heart_ventricle1.27622908
65MP0005058_abnormal_lysosome_morphology1.26476109
66MP0000383_abnormal_hair_follicle1.25571132
67MP0002118_abnormal_lipid_homeostasis1.24620608
68MP0005535_abnormal_body_temperature1.23555948
69MP0009697_abnormal_copulation1.21564481
70MP0000462_abnormal_digestive_system1.21022386
71MP0010352_gastrointestinal_tract_polyps1.19920269
72MP0001835_abnormal_antigen_presentation1.19115625
73MP0000015_abnormal_ear_pigmentation1.14211780
74MP0006036_abnormal_mitochondrial_physio1.09269201
75MP0005636_abnormal_mineral_homeostasis1.08005173
76MP0001299_abnormal_eye_distance/1.07583982
77MP0003705_abnormal_hypodermis_morpholog1.06380139
78MP0005187_abnormal_penis_morphology1.04858580
79MP0009840_abnormal_foam_cell1.04849992
80MP0005381_digestive/alimentary_phenotyp1.04481721
81MP0005083_abnormal_biliary_tract1.04111311
82MP0002098_abnormal_vibrissa_morphology1.02029164
83MP0004742_abnormal_vestibular_system1.00416088
84MP0005389_reproductive_system_phenotype0.99467962
85MP0003300_gastrointestinal_ulcer0.98697671
86MP0005448_abnormal_energy_balance0.98387257
87MP0003638_abnormal_response/metabolism_0.97040250
88MP0009278_abnormal_bone_marrow0.96985000
89MP0005551_abnormal_eye_electrophysiolog0.95316787
90MP0002733_abnormal_thermal_nociception0.94900684
91MP0005319_abnormal_enzyme/_coenzyme0.94030820
92MP0005395_other_phenotype0.91468044
93MP0003183_abnormal_peptide_metabolism0.90317758
94MP0003937_abnormal_limbs/digits/tail_de0.89800153
95MP0001664_abnormal_digestion0.89215119
96MP0001663_abnormal_digestive_system0.88954115
97MP0004130_abnormal_muscle_cell0.88528003
98MP0001968_abnormal_touch/_nociception0.88365465
99MP0009642_abnormal_blood_homeostasis0.88233114
100MP0005645_abnormal_hypothalamus_physiol0.87870057
101MP0003656_abnormal_erythrocyte_physiolo0.87181418
102MP0002736_abnormal_nociception_after0.85754365
103MP0002111_abnormal_tail_morphology0.85051178
104MP0004215_abnormal_myocardial_fiber0.85042713
105MP0000516_abnormal_urinary_system0.84328559
106MP0005367_renal/urinary_system_phenotyp0.84328559
107MP0004484_altered_response_of0.84313842
108MP0001188_hyperpigmentation0.83954637
109MP0002148_abnormal_hypersensitivity_rea0.82980495
110MP0003953_abnormal_hormone_level0.82009071
111MP0004185_abnormal_adipocyte_glucose0.81687676
112MP0003868_abnormal_feces_composition0.80030190
113MP0005167_abnormal_blood-brain_barrier0.78668999
114MP0004043_abnormal_pH_regulation0.78353195
115MP0010329_abnormal_lipoprotein_level0.77608961
116MP0000534_abnormal_ureter_morphology0.75798650
117MP0005365_abnormal_bile_salt0.75569050
118MP0000470_abnormal_stomach_morphology0.75562196
119MP0008438_abnormal_cutaneous_collagen0.74720114
120MP0009764_decreased_sensitivity_to0.74442644
121MP0005334_abnormal_fat_pad0.74361804
122MP0002971_abnormal_brown_adipose0.72345746
123MP0006276_abnormal_autonomic_nervous0.72031138
124MP0000490_abnormal_crypts_of0.71435139
125MP0001845_abnormal_inflammatory_respons0.71030384
126MP0003879_abnormal_hair_cell0.70079099
127MP0009115_abnormal_fat_cell0.69620724
128MP0000249_abnormal_blood_vessel0.69015027
129MP0005075_abnormal_melanosome_morpholog0.68828898
130MP0000372_irregular_coat_pigmentation0.68203612
131MP0001986_abnormal_taste_sensitivity0.68183610
132MP0002136_abnormal_kidney_physiology0.68063912
133MP0000377_abnormal_hair_follicle0.66047631
134MP0004085_abnormal_heartbeat0.65207693
135MP0009250_abnormal_appendicular_skeleto0.62688596
136MP0000627_abnormal_mammary_gland0.61500183
137MP0005501_abnormal_skin_physiology0.60808495
138MP0003566_abnormal_cell_adhesion0.60548440
139MP0003045_fibrosis0.60285008
140MP0005408_hypopigmentation0.59530014
141MP0002876_abnormal_thyroid_physiology0.58851539
142MP0004145_abnormal_muscle_electrophysio0.58258016
143MP0005332_abnormal_amino_acid0.57156902
144MP0002295_abnormal_pulmonary_circulatio0.56629996
145MP0002896_abnormal_bone_mineralization0.56393937
146MP0002269_muscular_atrophy0.56294873
147MP0002734_abnormal_mechanical_nocicepti0.56125412
148MP0001216_abnormal_epidermal_layer0.55472629
149MP0000230_abnormal_systemic_arterial0.53071259
150MP0006054_spinal_hemorrhage0.52892934
151MP0002277_abnormal_respiratory_mucosa0.50638341
152MP0000163_abnormal_cartilage_morphology0.49732224
153MP0005076_abnormal_cell_differentiation0.49490537
154MP0005248_abnormal_Harderian_gland0.49270731
155MP0005666_abnormal_adipose_tissue0.48799260
156MP0008875_abnormal_xenobiotic_pharmacok0.47600039
157MP0001944_abnormal_pancreas_morphology0.47565721
158MP0005330_cardiomyopathy0.45595436
159MP0002396_abnormal_hematopoietic_system0.44785524
160MP0002115_abnormal_skeleton_extremities0.44747355
161MP0000566_synostosis0.42998909
162MP0000653_abnormal_sex_gland0.42804489
163MP0000477_abnormal_intestine_morphology0.42413561
164MP0001145_abnormal_male_reproductive0.41974045
165MP0002060_abnormal_skin_morphology0.40239680
166MP0004036_abnormal_muscle_relaxation0.39444573
167MP0000609_abnormal_liver_physiology0.39019642

Predicted human phenotypes

RankGene SetZ-score
1Aplasia involving bones of the upper limbs (HP:0009823)7.07710623
2Aplasia of the phalanges of the hand (HP:0009802)7.07710623
3Aplasia involving bones of the extremities (HP:0009825)7.07710623
4Hypoplasia of the uterus (HP:0000013)6.80514552
5Abnormality of cochlea (HP:0000375)6.74335029
6Fibular aplasia (HP:0002990)6.72238670
7Abnormality of the phalanges of the 2nd finger (HP:0009541)6.48880265
8Abnormality of the proximal phalanges of the hand (HP:0009834)5.97520014
9Steatorrhea (HP:0002570)5.61678177
10Abnormality of the 2nd finger (HP:0004100)5.42538660
11Exocrine pancreatic insufficiency (HP:0001738)5.19234708
12Aplasia/hypoplasia of the uterus (HP:0008684)4.85200876
13Morphological abnormality of the inner ear (HP:0011390)4.70476191
14Abnormality of the middle phalanges of the toes (HP:0010183)4.68374662
15Prolonged bleeding time (HP:0003010)4.65046528
16Adactyly (HP:0009776)4.61568150
17Fat malabsorption (HP:0002630)4.61390257
18Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)4.50921063
19Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)4.45989355
20Short hallux (HP:0010109)4.38332741
212-3 toe syndactyly (HP:0004691)4.35764260
22Ileus (HP:0002595)4.34263156
23Hypoplastic nipples (HP:0002557)4.32355050
24Congenital sensorineural hearing impairment (HP:0008527)4.28629864
25Petechiae (HP:0000967)4.25791509
26Aplasia/Hypoplasia of the hallux (HP:0008362)4.09484373
27Absent/shortened dynein arms (HP:0200106)4.09226319
28Dynein arm defect of respiratory motile cilia (HP:0012255)4.09226319
29Hyperactive renin-angiotensin system (HP:0000841)4.05623702
30Abnormality of glutamine family amino acid metabolism (HP:0010902)4.04408158
31Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)4.01935507
32Decreased circulating renin level (HP:0003351)3.98654108
33Abnormal ciliary motility (HP:0012262)3.97587173
34Vacuolated lymphocytes (HP:0001922)3.92263243
35Abnormal respiratory epithelium morphology (HP:0012253)3.80023085
36Abnormal respiratory motile cilium morphology (HP:0005938)3.80023085
37Thoracolumbar scoliosis (HP:0002944)3.71435750
38Abnormality of the middle phalanx of the 5th finger (HP:0004219)3.61012855
39Rimmed vacuoles (HP:0003805)3.58508233
40Abnormal respiratory motile cilium physiology (HP:0012261)3.56638608
41Limb-girdle muscle atrophy (HP:0003797)3.53367670
42Genetic anticipation (HP:0003743)3.50829989
43Acanthocytosis (HP:0001927)3.48226377
44Urinary glycosaminoglycan excretion (HP:0003541)3.45920144
45Mucopolysacchariduria (HP:0008155)3.45920144
46Metabolic alkalosis (HP:0200114)3.45084882
47Symphalangism affecting the phalanges of the hand (HP:0009773)3.44980935
48Hypoplasia of the ulna (HP:0003022)3.39952823
49Aplasia/Hypoplasia of the fibula (HP:0006492)3.34567077
50Respiratory insufficiency due to defective ciliary clearance (HP:0200073)3.33297606
51Abnormality of the phalanges of the 5th finger (HP:0004213)3.29322164
52Abnormality of renin-angiotensin system (HP:0000847)3.22102184
53Thyroid carcinoma (HP:0002890)3.16188611
54Abnormality of the vitamin B12 metabolism (HP:0004341)3.11389489
55Chronic diarrhea (HP:0002028)3.06823482
56Abnormality of polysaccharide metabolism (HP:0011012)3.06245360
57Abnormality of glycosaminoglycan metabolism (HP:0004371)3.06245360
58Abnormality of mucopolysaccharide metabolism (HP:0011020)3.06245360
59Decreased central vision (HP:0007663)3.03540191
60Abnormality of vitamin B metabolism (HP:0004340)2.99805527
61Rhinitis (HP:0012384)2.95717036
62Epistaxis (HP:0000421)2.94224241
63Hydroxyprolinuria (HP:0003080)2.92593036
64Abnormality of proline metabolism (HP:0010907)2.92593036
65Rectal prolapse (HP:0002035)2.90658929
66Poikilocytosis (HP:0004447)2.84839628
67Protuberant abdomen (HP:0001538)2.82044446
68Submucous cleft hard palate (HP:0000176)2.81509182
69Malnutrition (HP:0004395)2.79493675
70Pancreatitis (HP:0001733)2.76401731
71Long toe (HP:0010511)2.76332580
72Menorrhagia (HP:0000132)2.75386787
73Gaze-evoked nystagmus (HP:0000640)2.68281694
74Abnormality of secondary sexual hair (HP:0009888)2.67524692
75Abnormality of the axillary hair (HP:0100134)2.67524692
76Hyperaldosteronism (HP:0000859)2.66014541
77Aplasia/Hypoplasia of the ulna (HP:0006495)2.65731274
78Synostosis of carpal bones (HP:0005048)2.60631817
79Bronchiectasis (HP:0002110)2.55376049
80Alkalosis (HP:0001948)2.52819935
81Hyperthyroidism (HP:0000836)2.52175490
82Increased mean platelet volume (HP:0011877)2.50941548
83Hypergonadotropic hypogonadism (HP:0000815)2.50732128
84Pancreatic cysts (HP:0001737)2.50518665
85Short femoral neck (HP:0100864)2.46077050
86Abnormality of macular pigmentation (HP:0008002)2.45131677
87Chronic bronchitis (HP:0004469)2.44072430
88Broad hallux (HP:0010055)2.43885473
89Progressive cerebellar ataxia (HP:0002073)2.43297093
90Gingival bleeding (HP:0000225)2.43291763
91Dysmetric saccades (HP:0000641)2.43164051
92Abnormality of the renal cortex (HP:0011035)2.42968243
93Proximal tubulopathy (HP:0000114)2.42209130
94Hyperphosphatemia (HP:0002905)2.42044285
95Abnormality of the epiphyses of the phalanges of the hand (HP:0005920)2.39321384
96Purpura (HP:0000979)2.36902456
97Abnormality of the heme biosynthetic pathway (HP:0010472)2.34728186
98Abnormal platelet volume (HP:0011876)2.34723967
99Abnormality of the pleura (HP:0002103)2.34140069
100Dysostosis multiplex (HP:0000943)2.32223360
101Dyschromatopsia (HP:0007641)2.31326929
102Abnormality of the vasculature of the conjunctiva (HP:0008054)2.30527024
103Aplasia/Hypoplasia involving the sinuses (HP:0009120)2.30219978
104Chronic otitis media (HP:0000389)2.29737235
105Pancreatic fibrosis (HP:0100732)2.28775121
106Distal arthrogryposis (HP:0005684)2.28483299
107Central scotoma (HP:0000603)2.28395161
108Pigmentary retinal degeneration (HP:0001146)2.28041708
109Abnormality of vitamin metabolism (HP:0100508)2.26164403
110True hermaphroditism (HP:0010459)2.22682021
111Hyperparathyroidism (HP:0000843)2.22182354
112Tarsal synostosis (HP:0008368)2.20281178
113Aplasia/Hypoplasia of the sacrum (HP:0008517)2.17709202
114Hyperventilation (HP:0002883)2.16414758
115Ulnar deviation of finger (HP:0009465)2.13038441
116Tubulointerstitial nephritis (HP:0001970)2.11232263
117Abnormality of urine glucose concentration (HP:0011016)2.10629270
118Glycosuria (HP:0003076)2.10629270
119Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)2.09451307
120Nausea (HP:0002018)2.09016438
121Hyperglycinuria (HP:0003108)2.08257349
122Truncus arteriosus (HP:0001660)2.07886368
123Testicular atrophy (HP:0000029)2.07792581
124Abnormality of small intestinal villus morphology (HP:0011472)2.06495363
125Villous atrophy (HP:0011473)2.06495363
126Renal cortical cysts (HP:0000803)2.04358431
127Abdominal distention (HP:0003270)2.02749138
128Abnormality of the epiphyses of the hand (HP:0005924)2.02579545
129Abnormality of the prostate (HP:0008775)2.01899348
130Tracheal stenosis (HP:0002777)1.98928417
131Ulnar deviation of the hand or of fingers of the hand (HP:0001193)1.98598719
132Neoplasm of the pancreas (HP:0002894)1.98049893
133Attenuation of retinal blood vessels (HP:0007843)1.97963311
134Aplasia/hypoplasia of the femur (HP:0005613)1.97417753
135Cerebral palsy (HP:0100021)1.96745561
136Abolished electroretinogram (ERG) (HP:0000550)1.96537689
137Potter facies (HP:0002009)1.96449654
138Facial shape deformation (HP:0011334)1.96449654
139Ventricular fibrillation (HP:0001663)1.95688087
140Seborrheic dermatitis (HP:0001051)1.94973992
141Carpal synostosis (HP:0009702)1.94671810
142Cystic liver disease (HP:0006706)1.94401591
143Abnormality of the hepatic vasculature (HP:0006707)1.93745910
144Abnormal platelet function (HP:0011869)1.93459988
145Impaired platelet aggregation (HP:0003540)1.93459988
146Hyperlipoproteinemia (HP:0010980)1.93333859
147Male infertility (HP:0003251)1.93332301
148Synostosis involving bones of the feet (HP:0009140)1.92939687
149Synostosis involving bones of the lower limbs (HP:0009138)1.92939687
150Sleep apnea (HP:0010535)1.92684401
151Abnormality of dicarboxylic acid metabolism (HP:0010995)1.92329367
152Dicarboxylic aciduria (HP:0003215)1.92329367
153Broad toe (HP:0001837)1.91786774
154Molar tooth sign on MRI (HP:0002419)1.91440826
155Abnormality of midbrain morphology (HP:0002418)1.91440826
156Biliary tract neoplasm (HP:0100574)1.91134836
157Cutaneous finger syndactyly (HP:0010554)1.91111655
158Abnormality involving the epiphyses of the upper limbs (HP:0003839)1.90286726
159Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.89890750
160Increased IgE level (HP:0003212)1.89313640
161Severe visual impairment (HP:0001141)1.88585174
162Limb-girdle muscle weakness (HP:0003325)1.87675970
163Clumsiness (HP:0002312)1.86147963
164Lip pit (HP:0100267)1.85962659
165Barrel-shaped chest (HP:0001552)1.85927730
166Chronic hepatic failure (HP:0100626)1.85687850
167Prostate neoplasm (HP:0100787)1.85453339
168Forearm undergrowth (HP:0009821)1.85411751
169Congenital stationary night blindness (HP:0007642)1.83928385
170Gonadal dysgenesis (HP:0000133)1.83045972
171Hyperkalemia (HP:0002153)1.82767199
172Hypokalemia (HP:0002900)1.82155126
173Widely patent fontanelles and sutures (HP:0004492)1.81918055
174Recurrent sinusitis (HP:0011108)1.80884047
175Deviation of the hallux (HP:0010051)1.80665349
176Beaking of vertebral bodies (HP:0004568)1.80273117
177Abnormality of potassium homeostasis (HP:0011042)1.80067388
178Abnormal biliary tract morphology (HP:0012440)1.79462219
179Abnormal pupillary function (HP:0007686)1.78602577
180Chin dimple (HP:0010751)1.78364913
181Abnormality of the middle phalanges of the hand (HP:0009833)1.78333140
182Nasal polyposis (HP:0100582)1.78157394
183Aortic aneurysm (HP:0004942)1.77953812
184Abnormality of serine family amino acid metabolism (HP:0010894)1.77903970
185Abnormality of glycine metabolism (HP:0010895)1.77903970
186Spontaneous hematomas (HP:0007420)1.77869061
187Abnormality of the renal medulla (HP:0100957)1.76046567
188Aplasia/Hypoplasia of the nipples (HP:0006709)1.74540452
189Abnormal foot bone ossification (HP:0010675)1.67777268
190Absent toe (HP:0010760)1.66176794
191Smooth philtrum (HP:0000319)1.63022046
192Hallux valgus (HP:0001822)1.62891447
193Overlapping toe (HP:0001845)1.57435069
194Abnormality of chloride homeostasis (HP:0011422)1.55828758
195Synostosis involving bones of the hand (HP:0004278)1.54558854
196Cutaneous syndactyly (HP:0012725)1.54425073
197Mildly elevated creatine phosphokinase (HP:0008180)1.53939002

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK398.51644597
2AKT35.65111419
3OXSR15.61162849
4MST44.60542631
5ACVR1B4.53486801
6LMTK23.83905417
7TAOK33.56565489
8LATS13.18783023
9ERN13.13753406
10MAP4K22.50576112
11TEC2.43095673
12PIK3CG2.40008677
13SCYL22.06400009
14FRK2.04960860
15SIK11.94786982
16BCKDK1.87214337
17ADRBK21.82744744
18TNK21.77441997
19BMPR1B1.74393462
20MST1R1.73172736
21FER1.70558275
22BTK1.70133461
23BMPR21.60894600
24GRK11.59069034
25EEF2K1.58266809
26EPHA21.52777257
27MAP2K61.49031199
28TESK21.40710692
29PTK2B1.35532752
30PHKG21.28912200
31PHKG11.28912200
32PINK11.28756465
33PRKG21.28196507
34TXK1.27920524
35LRRK21.27828002
36EPHA31.26611995
37MAP3K21.25831802
38GRK61.23517428
39KIT1.21003071
40MAPK151.20860562
41BMX1.14233815
42PIK3CA1.12696711
43MATK1.11613952
44SYK1.10266834
45TTN1.10110733
46STK101.05868563
47TNIK0.96721058
48IRAK10.96621573
49MAPKAPK30.95021066
50NLK0.94628383
51CDK190.94073986
52MAPK130.93195720
53MYLK0.93174239
54RPS6KB20.89824782
55PRKAA20.88160698
56ITK0.86151244
57TESK10.85895361
58PTK60.83248644
59NUAK10.80394865
60STK30.80142816
61INSRR0.79482140
62CAMKK10.74433638
63MARK30.71868476
64MAP4K10.69867910
65IKBKB0.68677529
66HCK0.67001337
67TRIB30.65626340
68WNK30.63542406
69PRKCI0.63154948
70MAPKAPK50.62921871
71FES0.62771324
72LATS20.62273207
73DMPK0.60056962
74LYN0.59840468
75BRSK20.57143768
76EIF2AK10.56476142
77FLT30.55496726
78ROCK20.54704811
79TLK10.52393943
80PDK20.51258451
81GRK50.49542941
82PRKCA0.48904766
83MAPK110.48719546
84PRKACG0.47661459
85STK240.45895595
86STK38L0.44148317
87HIPK20.43600385
88ZAP700.43559892
89MAP3K10.43288251
90WNK40.41796997
91CCNB10.41515220
92MAP2K10.39180761
93PIM10.38799557
94MAP3K80.37980550
95LCK0.37788029
96PAK20.36520856
97JAK10.36366398
98MET0.36123733
99FGFR30.35363763
100RET0.34453882
101JAK20.33920442
102MAP3K50.33834174
103MAPK30.33164452
104TAOK20.33105530
105ERBB20.31568627
106PDGFRA0.31563568
107ROCK10.31248220
108PKN10.30596255
109MTOR0.30463735
110TRPM70.30269726
111MAP3K70.29628383
112MAP3K40.29355899
113STK380.28941768
114IGF1R0.28752755
115EIF2AK30.28067828
116PKN20.26785663
117WNK10.25902213
118ICK0.25420301
119KSR20.25395193
120PRKD10.24342744
121PRKCQ0.24328735
122RPS6KA20.24094492
123MAP2K20.21589942
124RPS6KB10.21444701
125PRKAA10.20980610
126MAP2K40.20722417
127DDR20.20483366
128LIMK10.20234303
129NME10.20161852
130RIPK40.18145747
131CSF1R0.17669022
132PDK40.17132771
133PDK30.17132771
134TAOK10.15497422
135PTK20.15227504
136ADRBK10.14995555
137RIPK10.14766509
138CDC42BPA0.14012456
139EGFR0.12665027
140NEK60.11828604
141DAPK20.11492558
142NTRK10.10912013
143PRKCE0.10496814
144CAMK10.10147406
145SGK30.09788499
146EPHB10.09268058
147FYN0.08202931
148MELK0.08164144
149PDK10.07427933
150PRKACB0.07187879
151JAK30.07133671
152NTRK30.06154302
153RPS6KA10.05874907
154PRKCB0.05304932
155CAMK2D0.05214035
156FGFR20.04798332
157PDPK10.04319951

Predicted pathways (KEGG)

RankGene SetZ-score
1Sulfur metabolism_Homo sapiens_hsa009205.68601592
2Renin-angiotensin system_Homo sapiens_hsa046144.80909344
3Protein processing in endoplasmic reticulum_Homo sapiens_hsa041414.00163911
4Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006033.27803906
5Fat digestion and absorption_Homo sapiens_hsa049752.91353521
6Protein export_Homo sapiens_hsa030602.83157704
7Other glycan degradation_Homo sapiens_hsa005112.78930205
8Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.66951635
9Linoleic acid metabolism_Homo sapiens_hsa005912.60249828
10Vibrio cholerae infection_Homo sapiens_hsa051102.50767032
11Steroid hormone biosynthesis_Homo sapiens_hsa001402.45062463
12alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.43622633
13Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005202.42513450
14Vitamin digestion and absorption_Homo sapiens_hsa049772.38714201
15Chemical carcinogenesis_Homo sapiens_hsa052042.36352850
16Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.28164749
17Retinol metabolism_Homo sapiens_hsa008302.26634073
18Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.25848370
19Thyroid hormone synthesis_Homo sapiens_hsa049182.08284611
20Arachidonic acid metabolism_Homo sapiens_hsa005902.00833400
21Nitrogen metabolism_Homo sapiens_hsa009101.97045415
22Caffeine metabolism_Homo sapiens_hsa002321.93708165
23N-Glycan biosynthesis_Homo sapiens_hsa005101.92930808
24Butanoate metabolism_Homo sapiens_hsa006501.90428970
25Propanoate metabolism_Homo sapiens_hsa006401.85886501
26Intestinal immune network for IgA production_Homo sapiens_hsa046721.67405153
27Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.63941012
28Salivary secretion_Homo sapiens_hsa049701.63642278
29Fatty acid degradation_Homo sapiens_hsa000711.62043312
30Asthma_Homo sapiens_hsa053101.56094213
31Mineral absorption_Homo sapiens_hsa049781.50434154
32Ether lipid metabolism_Homo sapiens_hsa005651.50404498
33Platelet activation_Homo sapiens_hsa046111.49830188
34Drug metabolism - other enzymes_Homo sapiens_hsa009831.48042035
35Selenocompound metabolism_Homo sapiens_hsa004501.43216660
36Cysteine and methionine metabolism_Homo sapiens_hsa002701.42877892
37Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.40480990
38Lysosome_Homo sapiens_hsa041421.34860709
39Tight junction_Homo sapiens_hsa045301.34191548
40Prostate cancer_Homo sapiens_hsa052151.31023009
41Carbohydrate digestion and absorption_Homo sapiens_hsa049731.29094254
42Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.24369611
43Arginine and proline metabolism_Homo sapiens_hsa003301.23821706
44Glutathione metabolism_Homo sapiens_hsa004801.22929389
45Hippo signaling pathway_Homo sapiens_hsa043901.21764728
46Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.21096346
47Thyroid cancer_Homo sapiens_hsa052161.18763217
48Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.18475857
49Pentose and glucuronate interconversions_Homo sapiens_hsa000401.08421935
50Glycerophospholipid metabolism_Homo sapiens_hsa005641.08217641
51Olfactory transduction_Homo sapiens_hsa047401.08146994
52Adherens junction_Homo sapiens_hsa045201.07642484
53Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.05009826
54Protein digestion and absorption_Homo sapiens_hsa049741.04183951
55Arginine biosynthesis_Homo sapiens_hsa002201.02620272
56Autoimmune thyroid disease_Homo sapiens_hsa053201.02484067
57Insulin resistance_Homo sapiens_hsa049310.97375050
58Graft-versus-host disease_Homo sapiens_hsa053320.96989921
59Allograft rejection_Homo sapiens_hsa053300.95248407
60TGF-beta signaling pathway_Homo sapiens_hsa043500.94129967
61mTOR signaling pathway_Homo sapiens_hsa041500.93810443
62Peroxisome_Homo sapiens_hsa041460.92489078
63Inositol phosphate metabolism_Homo sapiens_hsa005620.91067822
64Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.86255928
65Fructose and mannose metabolism_Homo sapiens_hsa000510.85572167
66Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.84950874
67Phototransduction_Homo sapiens_hsa047440.84554213
68beta-Alanine metabolism_Homo sapiens_hsa004100.83359806
69Pancreatic secretion_Homo sapiens_hsa049720.83231900
70Endometrial cancer_Homo sapiens_hsa052130.81556634
71Maturity onset diabetes of the young_Homo sapiens_hsa049500.80500830
72Type I diabetes mellitus_Homo sapiens_hsa049400.76559772
73SNARE interactions in vesicular transport_Homo sapiens_hsa041300.76457485
74Ovarian steroidogenesis_Homo sapiens_hsa049130.76365800
75Serotonergic synapse_Homo sapiens_hsa047260.75664035
76Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.75204395
77Fatty acid metabolism_Homo sapiens_hsa012120.74366096
78Tyrosine metabolism_Homo sapiens_hsa003500.73960536
79Sphingolipid metabolism_Homo sapiens_hsa006000.73167426
80Hematopoietic cell lineage_Homo sapiens_hsa046400.72702944
81Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.71665581
82Leukocyte transendothelial migration_Homo sapiens_hsa046700.71465766
83ABC transporters_Homo sapiens_hsa020100.70698891
84* Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.70481980
85Cyanoamino acid metabolism_Homo sapiens_hsa004600.69158453
86Renin secretion_Homo sapiens_hsa049240.68784517
87Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.65969915
88Bladder cancer_Homo sapiens_hsa052190.62750195
89Taste transduction_Homo sapiens_hsa047420.61235716
90Amoebiasis_Homo sapiens_hsa051460.60870774
91Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.59896043
92Staphylococcus aureus infection_Homo sapiens_hsa051500.59430145
93Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.58771789
94Estrogen signaling pathway_Homo sapiens_hsa049150.56612254
95Proteoglycans in cancer_Homo sapiens_hsa052050.53829133
96Hepatitis C_Homo sapiens_hsa051600.53130636
97Synaptic vesicle cycle_Homo sapiens_hsa047210.51041246
98ErbB signaling pathway_Homo sapiens_hsa040120.50964158
99Focal adhesion_Homo sapiens_hsa045100.50529963
100Phosphatidylinositol signaling system_Homo sapiens_hsa040700.48336165
101Lysine degradation_Homo sapiens_hsa003100.46856413
102Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.46617786
103Long-term depression_Homo sapiens_hsa047300.46423653
104Aldosterone synthesis and secretion_Homo sapiens_hsa049250.46417580
105Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.46386808
106Pyruvate metabolism_Homo sapiens_hsa006200.46027267
107Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.45916651
108Insulin signaling pathway_Homo sapiens_hsa049100.45789526
109Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.44560393
110AMPK signaling pathway_Homo sapiens_hsa041520.43754717
111Gastric acid secretion_Homo sapiens_hsa049710.43478864
112Longevity regulating pathway - mammal_Homo sapiens_hsa042110.41838452
113Primary bile acid biosynthesis_Homo sapiens_hsa001200.41547395
114Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.40952312
115Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.40380141
116PPAR signaling pathway_Homo sapiens_hsa033200.39779892
117Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.38399733
118Glycerolipid metabolism_Homo sapiens_hsa005610.38363351
119Starch and sucrose metabolism_Homo sapiens_hsa005000.37930230
120Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.37834173
121Endocytosis_Homo sapiens_hsa041440.37713340
122Collecting duct acid secretion_Homo sapiens_hsa049660.37330034
123* Metabolic pathways_Homo sapiens_hsa011000.37197807
124Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.37152177
125Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.34532621
126ECM-receptor interaction_Homo sapiens_hsa045120.34169845
127Calcium signaling pathway_Homo sapiens_hsa040200.32779586
128Biosynthesis of amino acids_Homo sapiens_hsa012300.32008094
129Bile secretion_Homo sapiens_hsa049760.31970620
130Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.31787947
131Fatty acid biosynthesis_Homo sapiens_hsa000610.31746689
132Choline metabolism in cancer_Homo sapiens_hsa052310.31117610
133Tryptophan metabolism_Homo sapiens_hsa003800.30925610
134Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.30142981
135Adipocytokine signaling pathway_Homo sapiens_hsa049200.29393734
136Insulin secretion_Homo sapiens_hsa049110.29358440
137Histidine metabolism_Homo sapiens_hsa003400.28568160
138Glycosaminoglycan degradation_Homo sapiens_hsa005310.28089325
139Transcriptional misregulation in cancer_Homo sapiens_hsa052020.27960421
140Homologous recombination_Homo sapiens_hsa034400.25651037
141AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.24857427
142Carbon metabolism_Homo sapiens_hsa012000.23612274
143Purine metabolism_Homo sapiens_hsa002300.23573902
144Type II diabetes mellitus_Homo sapiens_hsa049300.23140940
145Glucagon signaling pathway_Homo sapiens_hsa049220.22631325
146Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.22154510
147FoxO signaling pathway_Homo sapiens_hsa040680.21607524
148Non-small cell lung cancer_Homo sapiens_hsa052230.20565671
149Pancreatic cancer_Homo sapiens_hsa052120.20472273
150Glioma_Homo sapiens_hsa052140.20102448
151Vascular smooth muscle contraction_Homo sapiens_hsa042700.19477767
152Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.19229848
153Small cell lung cancer_Homo sapiens_hsa052220.18909063
154Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.18869116
155Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.18463512
156Leishmaniasis_Homo sapiens_hsa051400.18429685
157Dorso-ventral axis formation_Homo sapiens_hsa043200.17227209
158Circadian entrainment_Homo sapiens_hsa047130.16898850

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