UGT2A1

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





Description: The protein encoded by this gene belongs to the UDP-glycosyltransferase family, members of which catalyze biotransformation reactions in which lipophilic substrates are conjugated with glucuronic acid to increase water solubility and enhance excretion. They are of major importance in the conjugation and subsequent elimination of potentially toxic xenobiotics and endogenous compounds. This enzyme is expressed in the olfactory neuroepithelium, which lines the posterior nasal cavity and is exposed to a wide range of odorants and airborne toxic compounds. Hence, this protein has been suggested to be involved in clearing lipophilic odorant molecules from the sensory epithelium. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. This gene shares exon structure with the UDP glucuronosyltransferase 2A2 family member, which encodes N-terminally distinct isoforms. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1xenobiotic catabolic process (GO:0042178)9.69840393
2response to nitrosative stress (GO:0051409)9.25751450
3* uronic acid metabolic process (GO:0006063)8.31004304
4* glucuronate metabolic process (GO:0019585)8.31004304
5axonemal dynein complex assembly (GO:0070286)8.00528903
6regulation of chemokine secretion (GO:0090196)7.97151019
7cilium or flagellum-dependent cell motility (GO:0001539)7.78415669
8epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)7.42028767
9surfactant homeostasis (GO:0043129)7.26290832
10cilium movement (GO:0003341)7.17470043
11* cellular glucuronidation (GO:0052695)6.87888432
12epithelial cilium movement (GO:0003351)6.73896938
13one-carbon compound transport (GO:0019755)6.61877290
14negative regulation of fatty acid transport (GO:2000192)6.29902250
15phenylpropanoid metabolic process (GO:0009698)6.29746023
16chemical homeostasis within a tissue (GO:0048875)6.17426967
17nucleotide transmembrane transport (GO:1901679)5.89280682
18negative regulation of chondrocyte differentiation (GO:0032331)5.86942574
19regulation of cilium movement (GO:0003352)5.68770368
20axoneme assembly (GO:0035082)5.63139030
21hormone catabolic process (GO:0042447)5.26464704
22L-ascorbic acid metabolic process (GO:0019852)5.18141761
23iron ion import (GO:0097286)5.16554792
24interferon-gamma secretion (GO:0072643)5.16249630
25positive regulation of actin filament depolymerization (GO:0030836)5.15242603
26thrombin receptor signaling pathway (GO:0070493)4.99023065
27regulation of superoxide anion generation (GO:0032928)4.96637505
28motile cilium assembly (GO:0044458)4.95285469
29energy homeostasis (GO:0097009)4.94361107
30regulation of cholesterol biosynthetic process (GO:0045540)4.80523727
31renal absorption (GO:0070293)4.69115904
32glutathione derivative biosynthetic process (GO:1901687)4.60848243
33glutathione derivative metabolic process (GO:1901685)4.60848243
34purine ribonucleoside bisphosphate metabolic process (GO:0034035)4.58421850
353-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)4.58421850
36nonmotile primary cilium assembly (GO:0035058)4.54922564
37positive regulation of interleukin-8 secretion (GO:2000484)4.51271899
38regulation of skeletal muscle contraction (GO:0014819)4.51084344
39protein localization to cilium (GO:0061512)4.48342495
40response to pheromone (GO:0019236)4.44912916
41regulation of glomerular filtration (GO:0003093)4.44853241
42regulation of phospholipase A2 activity (GO:0032429)4.40720049
43positive regulation of pseudopodium assembly (GO:0031274)4.37714952
44intraciliary transport (GO:0042073)4.35547156
45negative regulation of lipase activity (GO:0060192)4.30382857
46cilium organization (GO:0044782)4.25349410
47cilium assembly (GO:0042384)4.17800766
48positive regulation of cellular amide metabolic process (GO:0034250)4.15731009
49benzene-containing compound metabolic process (GO:0042537)4.14274140
50negative regulation of cartilage development (GO:0061037)4.10271266
51positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.10226154
52negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)4.10209585
53inner ear receptor cell differentiation (GO:0060113)4.06585282
54desmosome organization (GO:0002934)4.05519363
55auditory receptor cell differentiation (GO:0042491)4.04572749
56cilium morphogenesis (GO:0060271)4.04402818
57regulation of pseudopodium assembly (GO:0031272)4.03401728
58bundle of His cell to Purkinje myocyte communication (GO:0086069)3.95873852
59polyol transport (GO:0015791)3.93756483
60relaxation of cardiac muscle (GO:0055119)3.90931974
61left/right axis specification (GO:0070986)3.89624557
62behavioral response to nicotine (GO:0035095)3.89365661
63glutathione metabolic process (GO:0006749)3.88450768
64regulation of cardioblast proliferation (GO:0003264)3.86796117
65regulation of secondary heart field cardioblast proliferation (GO:0003266)3.86796117
66mechanoreceptor differentiation (GO:0042490)3.84887263
67pharyngeal system development (GO:0060037)3.84267115
68detection of light stimulus involved in visual perception (GO:0050908)3.80556319
69detection of light stimulus involved in sensory perception (GO:0050962)3.80556319
70sulfate transmembrane transport (GO:1902358)3.78350563
71replicative senescence (GO:0090399)3.70587063
72sulfation (GO:0051923)3.69265349
73positive regulation of steroid biosynthetic process (GO:0010893)3.65907170
74negative regulation of cytosolic calcium ion concentration (GO:0051481)3.65401745
75renal system process involved in regulation of blood volume (GO:0001977)3.59855859
76regulation of toll-like receptor 4 signaling pathway (GO:0034143)3.59345583
77negative regulation of chemokine production (GO:0032682)3.57891267
78photoreceptor cell maintenance (GO:0045494)3.56685589
79regulation of cytokine secretion involved in immune response (GO:0002739)3.56613997
80cellular response to superoxide (GO:0071451)3.56141470
81cellular response to oxygen radical (GO:0071450)3.56141470
82removal of superoxide radicals (GO:0019430)3.56141470
83regulation of microtubule-based movement (GO:0060632)3.55875358
84cellular response to follicle-stimulating hormone stimulus (GO:0071372)3.54469289
85neuronal action potential (GO:0019228)3.54467723
86flavonoid metabolic process (GO:0009812)3.53962517
87artery smooth muscle contraction (GO:0014824)3.52173889
88negative regulation of synaptic transmission, GABAergic (GO:0032229)3.51587861
89L-fucose catabolic process (GO:0042355)3.51490995
90fucose catabolic process (GO:0019317)3.51490995
91L-fucose metabolic process (GO:0042354)3.51490995
92cell differentiation involved in metanephros development (GO:0072202)3.48982069
93detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.47821759
94indolalkylamine metabolic process (GO:0006586)3.47493363
95regulation of superoxide metabolic process (GO:0090322)3.41025987
96protein polyglutamylation (GO:0018095)3.36081324
97tryptophan catabolic process (GO:0006569)3.35064212
98indole-containing compound catabolic process (GO:0042436)3.35064212
99indolalkylamine catabolic process (GO:0046218)3.35064212
100left/right pattern formation (GO:0060972)3.34849563
101microtubule bundle formation (GO:0001578)3.33915109
102cellular component assembly involved in morphogenesis (GO:0010927)3.32322363
103cornea development in camera-type eye (GO:0061303)3.32166618
104positive regulation of Rho protein signal transduction (GO:0035025)3.31645681
105import into cell (GO:0098657)3.31329688
106bone remodeling (GO:0046849)3.29276054
107Notch signaling involved in heart development (GO:0061314)3.21614636
108water-soluble vitamin biosynthetic process (GO:0042364)3.20364250
109behavioral response to ethanol (GO:0048149)3.18742609
110establishment of endothelial barrier (GO:0061028)3.18601591
111kynurenine metabolic process (GO:0070189)3.17734722
112relaxation of muscle (GO:0090075)3.16320370
113nucleotide transport (GO:0006862)3.15596746
114sulfate transport (GO:0008272)3.14279624
115neural tube formation (GO:0001841)3.14194685
116negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.13937698
117negative regulation of keratinocyte proliferation (GO:0010839)3.13395255
118tonic smooth muscle contraction (GO:0014820)3.05022012
119negative regulation of toll-like receptor signaling pathway (GO:0034122)3.04509977
120gap junction assembly (GO:0016264)3.03433927
121positive regulation of icosanoid secretion (GO:0032305)3.02816437
122ventricular system development (GO:0021591)3.02517446
123negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.01592176
124retinal cone cell development (GO:0046549)3.00906831
125bicarbonate transport (GO:0015701)2.99966157
126transmission of nerve impulse (GO:0019226)2.99570562
127drug catabolic process (GO:0042737)2.98987793
128glycosphingolipid biosynthetic process (GO:0006688)2.97396789
129sperm motility (GO:0030317)2.97284615
130regulation of action potential (GO:0098900)2.94341067
131negative regulation of JUN kinase activity (GO:0043508)2.93841090
132regulation of female gonad development (GO:2000194)2.92206403
133positive regulation of cAMP-mediated signaling (GO:0043950)2.92082373
134heart valve formation (GO:0003188)2.91464576
135negative regulation of T cell differentiation in thymus (GO:0033085)2.89910675
136glomerulus development (GO:0032835)2.89853191
137vitamin catabolic process (GO:0009111)2.89360541
138fat-soluble vitamin catabolic process (GO:0042363)2.89360541
139generation of neurons (GO:0048699)2.88376973
140tryptophan metabolic process (GO:0006568)2.85704195
141regulation of interleukin-8 secretion (GO:2000482)2.85667319
142snRNA transcription (GO:0009301)2.85561963
143renal system process involved in regulation of systemic arterial blood pressure (GO:0003071)2.85272996
144synaptic vesicle maturation (GO:0016188)2.83618031
145regulation of beta-amyloid formation (GO:1902003)2.83408444
146endothelial cell morphogenesis (GO:0001886)2.82878354
147G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.82715311
148amyloid precursor protein catabolic process (GO:0042987)2.81145572
149pyrimidine nucleobase catabolic process (GO:0006208)2.80928358
150heart valve morphogenesis (GO:0003179)2.79711129
151xenobiotic metabolic process (GO:0006805)2.79212689
152prostaglandin metabolic process (GO:0006693)2.78715090
153prostanoid metabolic process (GO:0006692)2.78715090
154inositol phosphate-mediated signaling (GO:0048016)2.76720147
155pyrimidine-containing compound transmembrane transport (GO:0072531)2.76352134
156photoreceptor cell development (GO:0042461)2.73390661
157indole-containing compound metabolic process (GO:0042430)2.72533582
158L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.70823880
159determination of left/right symmetry (GO:0007368)2.70136629
160cell projection assembly (GO:0030031)2.69312776
161exogenous drug catabolic process (GO:0042738)2.69203032
162negative regulation of hematopoietic progenitor cell differentiation (GO:1901533)2.67994489
163multicellular organism reproduction (GO:0032504)2.64172819
164cellular ketone body metabolic process (GO:0046950)2.62913925
165piRNA metabolic process (GO:0034587)2.60637063
166preassembly of GPI anchor in ER membrane (GO:0016254)2.60146503
167primary amino compound metabolic process (GO:1901160)2.59177926
168somite development (GO:0061053)2.58368670
169negative regulation of transcription regulatory region DNA binding (GO:2000678)2.56996372
170serotonin metabolic process (GO:0042428)2.55174318
171DNA deamination (GO:0045006)2.55020244
172determination of bilateral symmetry (GO:0009855)2.54123350
173phosphatidylethanolamine metabolic process (GO:0046337)2.51659612
174negative regulation of response to food (GO:0032096)2.49924790
175negative regulation of appetite (GO:0032099)2.49924790
176eye photoreceptor cell development (GO:0042462)2.49301258
177centriole replication (GO:0007099)2.48101203
178gamma-aminobutyric acid transport (GO:0015812)2.46953571
179specification of symmetry (GO:0009799)2.46908574
180rRNA catabolic process (GO:0016075)2.45798448
181L-methionine salvage (GO:0071267)2.45688670
182L-methionine biosynthetic process (GO:0071265)2.45688670
183amino acid salvage (GO:0043102)2.45688670
184nucleobase catabolic process (GO:0046113)2.45265319
185microtubule-based movement (GO:0007018)2.41518074
186smoothened signaling pathway (GO:0007224)2.41245394
187positive regulation of action potential (GO:0045760)2.40983107
188terpenoid biosynthetic process (GO:0016114)2.40670376
189cellular biogenic amine catabolic process (GO:0042402)2.40062484
190amine catabolic process (GO:0009310)2.40062484
191tachykinin receptor signaling pathway (GO:0007217)2.37251255
192phosphatidylethanolamine biosynthetic process (GO:0006646)2.35936414
193ketone body metabolic process (GO:1902224)2.33792372
194negative regulation of heart rate (GO:0010459)2.31898140
195tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.30858301

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.56356395
2TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.91861448
3TRIM28_21343339_ChIP-Seq_HEK293_Human3.53315487
4EZH2_22144423_ChIP-Seq_EOC_Human3.49934055
5ZNF274_21170338_ChIP-Seq_K562_Hela3.33945009
6SMAD4_19686287_ChIP-ChIP_HaCaT_Human3.05880970
7VDR_22108803_ChIP-Seq_LS180_Human2.90839672
8IGF1R_20145208_ChIP-Seq_DFB_Human2.66030175
9SMAD_19615063_ChIP-ChIP_OVARY_Human2.60787413
10FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.57085189
11BP1_19119308_ChIP-ChIP_Hs578T_Human2.53172269
12ZFP57_27257070_Chip-Seq_ESCs_Mouse2.50811666
13EGR1_19374776_ChIP-ChIP_THP-1_Human2.50146914
14CTBP2_25329375_ChIP-Seq_LNCAP_Human2.44824164
15GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.32913690
16* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.32104684
17ZNF217_24962896_ChIP-Seq_MCF-7_Human2.24437962
18TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.23939219
19ESR2_21235772_ChIP-Seq_MCF-7_Human2.20305156
20CTBP1_25329375_ChIP-Seq_LNCAP_Human2.20146035
21CLOCK_20551151_ChIP-Seq_293T_Human2.16693850
22HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.15789966
23ESR1_21235772_ChIP-Seq_MCF-7_Human2.12134675
24CDX2_20551321_ChIP-Seq_CACO-2_Human2.11257925
25WT1_19549856_ChIP-ChIP_CCG9911_Human2.01098151
26ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.98578547
27P300_19829295_ChIP-Seq_ESCs_Human1.98561371
28EWS_26573619_Chip-Seq_HEK293_Human1.96953296
29FUS_26573619_Chip-Seq_HEK293_Human1.90346295
30FLI1_27457419_Chip-Seq_LIVER_Mouse1.81557964
31ESR1_20079471_ChIP-ChIP_T-47D_Human1.77913776
32SMAD4_21799915_ChIP-Seq_A2780_Human1.74895194
33RARG_19884340_ChIP-ChIP_MEFs_Mouse1.74655575
34NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.74443142
35GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.74426044
36SALL1_21062744_ChIP-ChIP_HESCs_Human1.72257776
37ER_23166858_ChIP-Seq_MCF-7_Human1.71081904
38TAF15_26573619_Chip-Seq_HEK293_Human1.68167908
39TOP2B_26459242_ChIP-Seq_MCF-7_Human1.66809885
40NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.64941225
41NRF2_20460467_ChIP-Seq_MEFs_Mouse1.64941225
42TP53_18474530_ChIP-ChIP_U2OS_Human1.62260045
43STAT3_23295773_ChIP-Seq_U87_Human1.61326097
44UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.59491949
45SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.59449031
46AHR_22903824_ChIP-Seq_MCF-7_Human1.57660394
47POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.56972741
48TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.56972741
49CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.56583251
50SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.55652358
51IRF1_19129219_ChIP-ChIP_H3396_Human1.55315989
52PCGF2_27294783_Chip-Seq_ESCs_Mouse1.52599222
53AR_25329375_ChIP-Seq_VCAP_Human1.52011545
54TCF4_23295773_ChIP-Seq_U87_Human1.51896091
55SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.50522048
56CBX2_27304074_Chip-Seq_ESCs_Mouse1.49985103
57IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.49419489
58CBP_20019798_ChIP-Seq_JUKART_Human1.49419489
59SMAD3_21741376_ChIP-Seq_EPCs_Human1.49073985
60MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.48487510
61KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.46772527
62KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.46772527
63KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.46772527
64EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.46162771
65GBX2_23144817_ChIP-Seq_PC3_Human1.45392522
66LXR_22158963_ChIP-Seq_LIVER_Mouse1.44865241
67SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.43056557
68SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.43056557
69EGR1_23403033_ChIP-Seq_LIVER_Mouse1.41835401
70REST_21632747_ChIP-Seq_MESCs_Mouse1.40394076
71RNF2_27304074_Chip-Seq_NSC_Mouse1.39934590
72SOX2_20726797_ChIP-Seq_SW620_Human1.39841995
73FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.38247722
74HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.36583649
75RNF2_18974828_ChIP-Seq_MESCs_Mouse1.36422013
76EZH2_18974828_ChIP-Seq_MESCs_Mouse1.36422013
77TP63_17297297_ChIP-ChIP_HaCaT_Human1.34631047
78HIF1A_21447827_ChIP-Seq_MCF-7_Human1.34237451
79MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.33885327
80SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.33725072
81EED_16625203_ChIP-ChIP_MESCs_Mouse1.33504718
82THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.31001761
83SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.30574182
84RUNX2_22187159_ChIP-Seq_PCA_Human1.30021798
85RXR_22158963_ChIP-Seq_LIVER_Mouse1.29904956
86AR_21572438_ChIP-Seq_LNCaP_Human1.29783800
87SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.27625813
88RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.27048319
89SMAD4_21741376_ChIP-Seq_EPCs_Human1.26944600
90BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.25861393
91KLF5_20875108_ChIP-Seq_MESCs_Mouse1.25816839
92NR3C1_21868756_ChIP-Seq_MCF10A_Human1.24277783
93TP53_22573176_ChIP-Seq_HFKS_Human1.23186565
94PPARA_22158963_ChIP-Seq_LIVER_Mouse1.23158585
95FOXA1_25329375_ChIP-Seq_VCAP_Human1.23076676
96FOXA1_27270436_Chip-Seq_PROSTATE_Human1.23076676
97PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.22975537
98GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.22726254
99STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.22454897
100SOX9_24532713_ChIP-Seq_HFSC_Mouse1.22283529
101SOX2_27498859_Chip-Seq_STOMACH_Mouse1.22156673
102NCOR_22424771_ChIP-Seq_293T_Human1.21942654
103PPAR_26484153_Chip-Seq_NCI-H1993_Human1.21684051
104SUZ12_27294783_Chip-Seq_NPCs_Mouse1.21040307
105NANOG_19829295_ChIP-Seq_ESCs_Human1.20011743
106SOX2_19829295_ChIP-Seq_ESCs_Human1.20011743
107OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19717147
108EZH2_27294783_Chip-Seq_NPCs_Mouse1.19316824
109CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.19194537
110BMI1_23680149_ChIP-Seq_NPCS_Mouse1.18870912
111ARNT_22903824_ChIP-Seq_MCF-7_Human1.18534338
112SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.17702248
113NFE2_27457419_Chip-Seq_LIVER_Mouse1.17433722
114DROSHA_22980978_ChIP-Seq_HELA_Human1.15300568
115ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.14624978
116TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.13726134
117SOX2_18555785_ChIP-Seq_MESCs_Mouse1.12931997
118ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.12271273
119EP300_21415370_ChIP-Seq_HL-1_Mouse1.11922579
120LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.11907481
121TP53_20018659_ChIP-ChIP_R1E_Mouse1.11496751
122TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.11439885
123NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.10628264
124PRDM14_20953172_ChIP-Seq_ESCs_Human1.09584464
125FLI1_21867929_ChIP-Seq_TH2_Mouse1.09522982
126EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.08902201
127PIAS1_25552417_ChIP-Seq_VCAP_Human1.08849619
128NANOG_18555785_Chip-Seq_ESCs_Mouse1.08788664
129RUNX1_27514584_Chip-Seq_MCF-7_Human1.07985039
130JARID2_20064375_ChIP-Seq_MESCs_Mouse1.07941956
131GATA3_21878914_ChIP-Seq_MCF-7_Human1.07231619
132FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.05695031
133FOXA1_21572438_ChIP-Seq_LNCaP_Human1.05390537
134CDX2_19796622_ChIP-Seq_MESCs_Mouse1.05165502
135EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.05039706
136* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.04851299
137RING1B_27294783_Chip-Seq_NPCs_Mouse1.04466429
138VDR_24787735_ChIP-Seq_THP-1_Human1.03800639
139BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.03689936
140ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.03175070
141GATA3_24758297_ChIP-Seq_MCF-7_Human1.02950915
142KLF5_25053715_ChIP-Seq_YYC3_Human1.02797157
143SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.02784545
144PCGF2_27294783_Chip-Seq_NPCs_Mouse1.02470813
145Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.01764537
146TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01751472
147TAL1_26923725_Chip-Seq_HPCs_Mouse1.01670520
148KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.01461441
149MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.01437154
150P53_22387025_ChIP-Seq_ESCs_Mouse1.01392334
151TP53_16413492_ChIP-PET_HCT116_Human1.01231938
152SALL4_18804426_ChIP-ChIP_XEN_Mouse1.00868038
153SOX2_21211035_ChIP-Seq_LN229_Gbm1.00217990
154FOXM1_26456572_ChIP-Seq_MCF-7_Human0.99322534
155AR_20517297_ChIP-Seq_VCAP_Human0.98762397
156EZH2_27304074_Chip-Seq_ESCs_Mouse0.98730622
157CDX2_22108803_ChIP-Seq_LS180_Human0.97993989
158NOTCH1_21737748_ChIP-Seq_TLL_Human0.97913699
159RNF2_27304074_Chip-Seq_ESCs_Mouse0.96404810
160WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.95732098
161ZNF263_19887448_ChIP-Seq_K562_Human0.94740440
162ERG_21242973_ChIP-ChIP_JURKAT_Human0.94435896
163EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse0.94356246
164BCAT_22108803_ChIP-Seq_LS180_Human0.92918117
165FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.92361108
166NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.92077135
167GATA2_21666600_ChIP-Seq_HMVEC_Human0.92053607
168RING1B_27294783_Chip-Seq_ESCs_Mouse0.91542430
169CJUN_26792858_Chip-Seq_BT549_Human0.91060513
170TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.90613400
171TCF4_22108803_ChIP-Seq_LS180_Human0.90258225
172MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.89347521
173MTF2_20144788_ChIP-Seq_MESCs_Mouse0.89290609
174EZH2_27294783_Chip-Seq_ESCs_Mouse0.88737016
175RXR_22108803_ChIP-Seq_LS180_Human0.88280280
176FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.87326878
177CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.86943792

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005499_abnormal_olfactory_system6.76272385
2MP0005394_taste/olfaction_phenotype6.76272385
3MP0008789_abnormal_olfactory_epithelium5.85929410
4MP0001984_abnormal_olfaction5.17739636
5MP0008875_abnormal_xenobiotic_pharmacok5.09038543
6MP0002877_abnormal_melanocyte_morpholog3.68290637
7MP0000678_abnormal_parathyroid_gland3.40008131
8MP0010030_abnormal_orbit_morphology3.27252679
9MP0001968_abnormal_touch/_nociception3.23434010
10MP0004134_abnormal_chest_morphology3.01138207
11MP0003878_abnormal_ear_physiology2.96136984
12MP0005377_hearing/vestibular/ear_phenot2.96136984
13MP0002254_reproductive_system_inflammat2.81186661
14MP0002736_abnormal_nociception_after2.79543475
15MP0010368_abnormal_lymphatic_system2.70380493
16MP0006276_abnormal_autonomic_nervous2.48719845
17MP0003136_yellow_coat_color2.37494513
18MP0000762_abnormal_tongue_morphology2.36073452
19MP0003195_calcinosis2.32427797
20MP0005551_abnormal_eye_electrophysiolog2.17802101
21MP0001346_abnormal_lacrimal_gland2.13001292
22MP0008877_abnormal_DNA_methylation2.09468140
23MP0003186_abnormal_redox_activity2.08703945
24MP0003880_abnormal_central_pattern2.01125819
25MP0002102_abnormal_ear_morphology1.98465873
26MP0002233_abnormal_nose_morphology1.94457875
27MP0009250_abnormal_appendicular_skeleto1.86088935
28MP0009780_abnormal_chondrocyte_physiolo1.82410218
29MP0005085_abnormal_gallbladder_physiolo1.82388679
30MP0009053_abnormal_anal_canal1.80119716
31MP0004133_heterotaxia1.78725599
32MP0001529_abnormal_vocalization1.71323483
33MP0002735_abnormal_chemical_nociception1.70858332
34MP0003786_premature_aging1.70820133
35MP0002653_abnormal_ependyma_morphology1.69186807
36MP0002734_abnormal_mechanical_nocicepti1.65127352
37MP0002909_abnormal_adrenal_gland1.60651454
38MP0002272_abnormal_nervous_system1.58752447
39MP0005253_abnormal_eye_physiology1.57114082
40MP0003890_abnormal_embryonic-extraembry1.54513126
41MP0009046_muscle_twitch1.53555934
42MP0002876_abnormal_thyroid_physiology1.52527945
43MP0003806_abnormal_nucleotide_metabolis1.51557051
44MP0000631_abnormal_neuroendocrine_gland1.49309415
45MP0004043_abnormal_pH_regulation1.49303585
46MP0001970_abnormal_pain_threshold1.48701710
47MP0009745_abnormal_behavioral_response1.48135016
48MP0009379_abnormal_foot_pigmentation1.46249090
49MP0002277_abnormal_respiratory_mucosa1.42364895
50MP0006072_abnormal_retinal_apoptosis1.40588744
51MP0001919_abnormal_reproductive_system1.36921760
52MP0005365_abnormal_bile_salt1.35798227
53MP0002837_dystrophic_cardiac_calcinosis1.35342775
54MP0000613_abnormal_salivary_gland1.33528762
55MP0001986_abnormal_taste_sensitivity1.32879561
56MP0002733_abnormal_thermal_nociception1.32087264
57MP0003787_abnormal_imprinting1.31670301
58MP0002572_abnormal_emotion/affect_behav1.29978926
59MP0005408_hypopigmentation1.29562968
60MP0002249_abnormal_larynx_morphology1.29263562
61MP0001270_distended_abdomen1.29142753
62MP0002557_abnormal_social/conspecific_i1.28893019
63MP0003646_muscle_fatigue1.26386104
64MP0000049_abnormal_middle_ear1.22564092
65MP0008872_abnormal_physiological_respon1.20019120
66MP0002234_abnormal_pharynx_morphology1.17775329
67MP0002928_abnormal_bile_duct1.17090081
68MP0000427_abnormal_hair_cycle1.14836265
69MP0005423_abnormal_somatic_nervous1.14364947
70MP0002098_abnormal_vibrissa_morphology1.14305971
71MP0003279_aneurysm1.14255386
72MP0002163_abnormal_gland_morphology1.14116234
73MP0001486_abnormal_startle_reflex1.14105436
74MP0005171_absent_coat_pigmentation1.12696686
75MP0003718_maternal_effect1.12533333
76MP0008057_abnormal_DNA_replication1.11602966
77MP0000467_abnormal_esophagus_morphology1.10077357
78MP0005195_abnormal_posterior_eye1.09651834
79MP0002638_abnormal_pupillary_reflex1.09276613
80MP0004147_increased_porphyrin_level1.07316935
81MP0000026_abnormal_inner_ear1.05596229
82MP0001501_abnormal_sleep_pattern1.04862042
83MP0003941_abnormal_skin_development1.04448603
84MP0006292_abnormal_olfactory_placode1.03563990
85MP0004142_abnormal_muscle_tone1.02909869
86MP0002752_abnormal_somatic_nervous1.02463416
87MP0008995_early_reproductive_senescence1.00472809
88MP0003119_abnormal_digestive_system1.00337400
89MP0000778_abnormal_nervous_system0.99233172
90MP0002063_abnormal_learning/memory/cond0.99200506
91MP0004742_abnormal_vestibular_system0.96764618
92MP0002295_abnormal_pulmonary_circulatio0.94966974
93MP0003635_abnormal_synaptic_transmissio0.94547355
94MP0002064_seizures0.93746198
95MP0002938_white_spotting0.92268962
96MP0003937_abnormal_limbs/digits/tail_de0.92036675
97MP0001963_abnormal_hearing_physiology0.91673491
98MP0001764_abnormal_homeostasis0.89895992
99MP0003011_delayed_dark_adaptation0.89827122
100MP0002184_abnormal_innervation0.89567954
101MP0005389_reproductive_system_phenotype0.88614465
102MP0004145_abnormal_muscle_electrophysio0.88424570
103MP0001177_atelectasis0.88036384
104MP0002067_abnormal_sensory_capabilities0.87710977
105MP0005248_abnormal_Harderian_gland0.86276137
106MP0001299_abnormal_eye_distance/0.85332063
107MP0005386_behavior/neurological_phenoty0.85290314
108MP0004924_abnormal_behavior0.85290314
109MP0001958_emphysema0.85013061
110MP0005360_urolithiasis0.84541075
111MP0001188_hyperpigmentation0.83536411
112MP0003075_altered_response_to0.83004657
113MP0000230_abnormal_systemic_arterial0.82740058
114MP0000534_abnormal_ureter_morphology0.82631037
115MP0002009_preneoplasia0.82518105
116MP0001485_abnormal_pinna_reflex0.80350228
117MP0004215_abnormal_myocardial_fiber0.79949620
118MP0002282_abnormal_trachea_morphology0.79644430
119MP0004019_abnormal_vitamin_homeostasis0.79142363
120MP0003698_abnormal_male_reproductive0.78586472
121MP0002882_abnormal_neuron_morphology0.77542257
122MP0004085_abnormal_heartbeat0.77123464
123MP0008260_abnormal_autophagy0.76707861
124MP0005084_abnormal_gallbladder_morpholo0.75478522
125MP0000569_abnormal_digit_pigmentation0.75018596
126MP0002133_abnormal_respiratory_system0.74987873
127MP0005388_respiratory_system_phenotype0.74987873
128MP0010386_abnormal_urinary_bladder0.74927584
129MP0002822_catalepsy0.74511728
130MP0000955_abnormal_spinal_cord0.74439192
131MP0001664_abnormal_digestion0.73958407
132MP0005646_abnormal_pituitary_gland0.73833003
133MP0001929_abnormal_gametogenesis0.73549616
134MP0002229_neurodegeneration0.73431288
135MP0002132_abnormal_respiratory_system0.71832234
136MP0005391_vision/eye_phenotype0.71050894
137MP0001879_abnormal_lymphatic_vessel0.70982613
138MP0001293_anophthalmia0.70653267
139MP0003938_abnormal_ear_development0.70207623
140MP0003690_abnormal_glial_cell0.70187065
141MP0005164_abnormal_response_to0.69744484
142MP0002160_abnormal_reproductive_system0.68243392
143MP0000566_synostosis0.68012480
144MP0005166_decreased_susceptibility_to0.65724632
145MP0004885_abnormal_endolymph0.63464515
146MP0003942_abnormal_urinary_system0.63142273
147MP0005187_abnormal_penis_morphology0.62279383
148MP0003385_abnormal_body_wall0.61228472
149MP0010329_abnormal_lipoprotein_level0.60500905
150MP0000372_irregular_coat_pigmentation0.60403055
151MP0002060_abnormal_skin_morphology0.60022798
152MP0010352_gastrointestinal_tract_polyps0.59780461
153MP0004782_abnormal_surfactant_physiolog0.59362953
154MP0005266_abnormal_metabolism0.59275046
155MP0003705_abnormal_hypodermis_morpholog0.57864681
156MP0003755_abnormal_palate_morphology0.55776250
157MP0000163_abnormal_cartilage_morphology0.55511628
158MP0005197_abnormal_uvea_morphology0.54502555
159MP0002177_abnormal_outer_ear0.54148695
160MP0005083_abnormal_biliary_tract0.53699768
161MP0005645_abnormal_hypothalamus_physiol0.53325064
162MP0005397_hematopoietic_system_phenotyp0.53006999
163MP0001545_abnormal_hematopoietic_system0.53006999
164MP0003828_pulmonary_edema0.52672823
165MP0000465_gastrointestinal_hemorrhage0.52499651
166MP0001849_ear_inflammation0.51381102
167MP0000383_abnormal_hair_follicle0.50896732
168MP0009278_abnormal_bone_marrow0.50791559
169MP0003453_abnormal_keratinocyte_physiol0.49824095
170MP0002006_tumorigenesis0.49710128
171MP0003566_abnormal_cell_adhesion0.44483426
172MP0002896_abnormal_bone_mineralization0.42583155
173MP0000733_abnormal_muscle_development0.42049277
174MP0003183_abnormal_peptide_metabolism0.41566767

Predicted human phenotypes

RankGene SetZ-score
1Dynein arm defect of respiratory motile cilia (HP:0012255)7.46608697
2Absent/shortened dynein arms (HP:0200106)7.46608697
3Abnormal respiratory epithelium morphology (HP:0012253)6.78848485
4Abnormal respiratory motile cilium morphology (HP:0005938)6.78848485
5Abnormal ciliary motility (HP:0012262)6.61887603
6Abnormal respiratory motile cilium physiology (HP:0012261)6.32763358
7Respiratory insufficiency due to defective ciliary clearance (HP:0200073)6.25002651
8Lip pit (HP:0100267)5.28144077
9Stomach cancer (HP:0012126)5.19471474
10Rhinitis (HP:0012384)5.09818424
11Aplasia involving bones of the extremities (HP:0009825)4.60377390
12Aplasia involving bones of the upper limbs (HP:0009823)4.60377390
13Aplasia of the phalanges of the hand (HP:0009802)4.60377390
14Pancreatic fibrosis (HP:0100732)4.59278215
15True hermaphroditism (HP:0010459)4.53086445
16Pancreatic cysts (HP:0001737)4.44418788
17Oligodontia (HP:0000677)4.30642718
18Molar tooth sign on MRI (HP:0002419)4.30342751
19Abnormality of midbrain morphology (HP:0002418)4.30342751
20Abnormal foot bone ossification (HP:0010675)4.20893596
21Abnormal tarsal ossification (HP:0008369)4.17675538
22Bifid scrotum (HP:0000048)4.15348513
23Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)4.10503826
24Aplasia/Hypoplasia of the phalanges of the toes (HP:0010173)4.08008050
25Bronchomalacia (HP:0002780)3.98269123
26Hypoplastic scapulae (HP:0000882)3.94711987
27Aplasia/Hypoplasia of the scapulae (HP:0006713)3.94711987
28Fibular aplasia (HP:0002990)3.91887564
29Abnormality of the distal phalanges of the toes (HP:0010182)3.91861616
30Right ventricular cardiomyopathy (HP:0011663)3.90272275
31Chronic bronchitis (HP:0004469)3.88676343
32Nephronophthisis (HP:0000090)3.78473158
33Medial flaring of the eyebrow (HP:0010747)3.77834110
34Submucous cleft hard palate (HP:0000176)3.76037676
35Bronchiectasis (HP:0002110)3.72572754
36Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)3.71715101
37Abnormal hemoglobin (HP:0011902)3.70059041
38Flat acetabular roof (HP:0003180)3.58870670
39Abolished electroretinogram (ERG) (HP:0000550)3.58072110
40Abnormality of the middle phalanx of the 5th finger (HP:0004219)3.54598408
41Facial shape deformation (HP:0011334)3.50240027
42Potter facies (HP:0002009)3.50240027
43Gait imbalance (HP:0002141)3.50081200
44Down-sloping shoulders (HP:0200021)3.49530334
45Congenital primary aphakia (HP:0007707)3.47662027
46Renal tubular acidosis (HP:0001947)3.43347008
47Abnormality of the phalanges of the 2nd finger (HP:0009541)3.39569105
48Cystic liver disease (HP:0006706)3.32329200
49Nephrogenic diabetes insipidus (HP:0009806)3.27095057
50Abnormality of the phalanges of the 5th finger (HP:0004213)3.25344173
51Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)3.21819247
52Degeneration of the lateral corticospinal tracts (HP:0002314)3.21819247
53Abnormality of the renal medulla (HP:0100957)3.20356760
54Chronic hepatic failure (HP:0100626)3.11237027
55Bony spicule pigmentary retinopathy (HP:0007737)3.10085131
56Absent eyebrow (HP:0002223)3.04071343
57Abnormality of the middle phalanges of the toes (HP:0010183)3.01115562
58Neoplasm of the tracheobronchial system (HP:0100552)2.95515264
59Popliteal pterygium (HP:0009756)2.93961031
60Decreased central vision (HP:0007663)2.93919530
61Alveolar cell carcinoma (HP:0006519)2.92825764
62Urethral obstruction (HP:0000796)2.87888105
63Hypoplasia of the uterus (HP:0000013)2.84828659
64Periauricular skin pits (HP:0100277)2.84245251
65Preauricular pit (HP:0004467)2.84245251
66Papillary thyroid carcinoma (HP:0002895)2.83855352
67Abnormality of the renal cortex (HP:0011035)2.82370426
68Postaxial foot polydactyly (HP:0001830)2.81565024
69Humeroradial synostosis (HP:0003041)2.77987941
70Synostosis involving the elbow (HP:0003938)2.77987941
71Genital tract atresia (HP:0001827)2.75329187
72Aplasia/Hypoplasia of the tongue (HP:0010295)2.73119529
73Absent eyelashes (HP:0000561)2.72915883
74Attenuation of retinal blood vessels (HP:0007843)2.71452507
75Hyperventilation (HP:0002883)2.69782965
76Vaginal atresia (HP:0000148)2.66065114
77Occipital encephalocele (HP:0002085)2.64294337
78Congenital hepatic fibrosis (HP:0002612)2.61456050
79Cupped ear (HP:0000378)2.58709665
80Tarsal synostosis (HP:0008368)2.57800420
81Onycholysis (HP:0001806)2.57272422
82Abnormality of carpal bone ossification (HP:0006257)2.56284376
83Anencephaly (HP:0002323)2.55964330
84Thoracolumbar scoliosis (HP:0002944)2.55082559
85Poor coordination (HP:0002370)2.53959508
86Stenosis of the external auditory canal (HP:0000402)2.53946160
87Congenital stationary night blindness (HP:0007642)2.51854784
88Short metatarsal (HP:0010743)2.51297203
89Sclerocornea (HP:0000647)2.51133679
90Prostate neoplasm (HP:0100787)2.47970876
91Recurrent sinusitis (HP:0011108)2.46913163
92Tubular atrophy (HP:0000092)2.46796156
93Ulnar bowing (HP:0003031)2.45602334
94Glucose intolerance (HP:0000833)2.43892339
95Hydroureter (HP:0000072)2.43541905
96Steatorrhea (HP:0002570)2.39561190
97Synostosis involving bones of the lower limbs (HP:0009138)2.37902026
98Synostosis involving bones of the feet (HP:0009140)2.37902026
99Labial hypoplasia (HP:0000066)2.37075434
100Short hallux (HP:0010109)2.35435514
101Short middle phalanx of the 5th finger (HP:0004220)2.34694383
102Male pseudohermaphroditism (HP:0000037)2.33079437
103Cutaneous finger syndactyly (HP:0010554)2.32734801
104Nasal polyposis (HP:0100582)2.32446637
105Abnormality of the proximal phalanges of the hand (HP:0009834)2.31181493
106Syncope (HP:0001279)2.30968878
107Keratoconus (HP:0000563)2.30254537
108Increased corneal curvature (HP:0100692)2.30254537
109Pendular nystagmus (HP:0012043)2.26906194
110Aplasia/Hypoplasia of metatarsal bones (HP:0001964)2.26678432
111Stillbirth (HP:0003826)2.26436545
112Furrowed tongue (HP:0000221)2.26376509
113Abnormal hand bone ossification (HP:0010660)2.25099722
114Tubulointerstitial nephritis (HP:0001970)2.24685834
115Morphological abnormality of the middle ear (HP:0008609)2.24375973
116Palpitations (HP:0001962)2.24014132
117Distal lower limb muscle weakness (HP:0009053)2.23110368
118Pulmonary artery stenosis (HP:0004415)2.22753801
119Postaxial hand polydactyly (HP:0001162)2.22676636
120Abnormality of the corticospinal tract (HP:0002492)2.21542189
121Alopecia of scalp (HP:0002293)2.20549284
122Aplasia/hypoplasia of the uterus (HP:0008684)2.19188006
123Absent phalangeal crease (HP:0006109)2.17620973
124Retinitis pigmentosa (HP:0000510)2.11689280
125Cutaneous syndactyly (HP:0012725)2.11543532
126Congenital, generalized hypertrichosis (HP:0004540)2.10034638
127Abnormality of monocarboxylic acid metabolism (HP:0010996)2.09664031
128Abnormality of the renal collecting system (HP:0004742)2.09036368
129Aplasia/Hypoplasia of the tibia (HP:0005772)2.08208631
130Renal cortical cysts (HP:0000803)2.08198504
131Polycythemia (HP:0001901)2.07652564
132Abnormality of the 2nd finger (HP:0004100)2.06748162
133Polydipsia (HP:0001959)2.06622559
134Abnormal drinking behavior (HP:0030082)2.06622559
135Chronic sinusitis (HP:0011109)2.05701266
136Infertility (HP:0000789)2.03901528
137Aplasia/Hypoplasia of the hallux (HP:0008362)2.03704947
138Skin pits (HP:0100276)2.02980839
139Abnormal rod and cone electroretinograms (HP:0008323)2.01719627
140Absent rod-and cone-mediated responses on ERG (HP:0007688)2.01671678
141Vaginal fistula (HP:0004320)2.00890529
142Bronchitis (HP:0012387)2.00499077
143Decreased circulating renin level (HP:0003351)2.00048273
144Hypoplastic female external genitalia (HP:0012815)1.99127808
145Fat malabsorption (HP:0002630)1.98823704
146Natal tooth (HP:0000695)1.98809156
147Cupped ribs (HP:0000887)1.95680392
148Redundant skin (HP:0001582)1.92610855
149Renal tubular dysfunction (HP:0000124)1.92417439
150Abnormality of the labia (HP:0000058)1.92360462
151Split foot (HP:0001839)1.91844625
152Preaxial hand polydactyly (HP:0001177)1.91683730
153Gaze-evoked nystagmus (HP:0000640)1.90987945
154Aplasia/Hypoplasia of the spleen (HP:0010451)1.90598449
155Abnormal glucose tolerance (HP:0001952)1.90066528
156Absent speech (HP:0001344)1.88604306
157Abnormality of cochlea (HP:0000375)1.88293674
158Sleep apnea (HP:0010535)1.88185330
159Hypoplastic labia majora (HP:0000059)1.87954273
160Adactyly (HP:0009776)1.86884336
161Prenatal maternal abnormality (HP:0002686)1.86737865
162Renal dysplasia (HP:0000110)1.86153347
163Aplasia/Hypoplasia of the lens (HP:0008063)1.80467212
164Chorioretinal atrophy (HP:0000533)1.80001517
165Abnormality of alanine metabolism (HP:0010916)1.79144911
166Hyperalaninemia (HP:0003348)1.79144911
167Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.79144911
168Asplenia (HP:0001746)1.77175581
169Specific learning disability (HP:0001328)1.71578822
170Colon cancer (HP:0003003)1.70847089
171Constricted visual fields (HP:0001133)1.70250879
172Type II lissencephaly (HP:0007260)1.70101619
173Polyuria (HP:0000103)1.68212045
174Oculomotor apraxia (HP:0000657)1.68003935
1753-Methylglutaconic aciduria (HP:0003535)1.67379653
176Bile duct proliferation (HP:0001408)1.66791761
177Abnormal biliary tract physiology (HP:0012439)1.66791761
178Abnormality of the nasal mucosa (HP:0000433)1.65990502
179Short tibia (HP:0005736)1.65854664
180Supernumerary spleens (HP:0009799)1.65567447
181Broad-based gait (HP:0002136)1.65354359
182Median cleft lip (HP:0000161)1.64907227
183Astigmatism (HP:0000483)1.64834032
184Abnormality of macular pigmentation (HP:0008002)1.63503156
185Aganglionic megacolon (HP:0002251)1.62337965
186Broad foot (HP:0001769)1.61992603
187Narrow forehead (HP:0000341)1.60129112
188Hyperactive renin-angiotensin system (HP:0000841)1.57904064
189Prominent nasal bridge (HP:0000426)1.56319172
190Short foot (HP:0001773)1.56037218
191Optic nerve hypoplasia (HP:0000609)1.51217843
192Protruding tongue (HP:0010808)1.50605670
193Progressive cerebellar ataxia (HP:0002073)1.50313527
194Abnormality of the labia minora (HP:0012880)1.48970397
195Congenital sensorineural hearing impairment (HP:0008527)1.47145521
196Macular degeneration (HP:0000608)1.46912686

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K35.73703260
2RIPK14.00523729
3MST43.98341160
4MAP2K33.71426528
5TAOK23.32483237
6MAP3K23.13463262
7MAP4K23.04117009
8TAOK12.86936184
9PAK32.84585212
10ZAK2.54107459
11GRK12.42296761
12WNK32.41992410
13MAP3K112.39528046
14ERBB32.29484534
15MAPK152.25470876
16MAP3K42.19226981
17AKT32.15914630
18EPHB22.12165325
19INSRR2.05744199
20MAPK132.04168429
21ACVR1B1.91322709
22RPS6KB21.90344112
23ADRBK21.87980452
24TAOK31.87820957
25BMPR21.87802143
26WNK41.72449036
27BCR1.65261783
28TNIK1.61414434
29CLK11.57626211
30HIPK21.54076559
31MAP2K21.49179546
32CSNK1A1L1.48531865
33TRIM281.45991462
34MAP3K141.45267442
35EPHA21.38018208
36NEK61.31466134
37PBK1.27205142
38CAMK41.23004376
39DYRK21.21757807
40MAP2K71.21583997
41CSNK1G21.19564914
42FRK1.13180053
43MARK11.09401164
44ADRBK11.06766567
45SGK21.04688837
46PLK21.04347599
47MAP2K11.02630062
48TLK11.02184641
49SGK2231.00775372
50SGK4941.00775372
51PRKCG0.97871416
52DAPK20.96420609
53STK390.94139236
54EPHA40.94040843
55CDK60.90058461
56NTRK30.89113925
57IKBKE0.89008950
58FER0.86568963
59BMPR1B0.84550577
60MKNK20.82752893
61STK100.82525126
62STK40.82179690
63NLK0.81975108
64PTK2B0.81125541
65VRK10.80398460
66CDK30.77023657
67STK30.76024292
68PDGFRB0.73675451
69TXK0.72698296
70CASK0.72376984
71STK110.71245788
72EPHB10.70493252
73SGK30.69616152
74LATS10.68999849
75BRSK20.68543322
76DYRK30.68141226
77MAP2K60.67847947
78TRPM70.67824000
79ERBB20.66888255
80PNCK0.65179295
81PLK40.62301974
82MAP3K50.61953806
83TAF10.61673847
84PINK10.61446642
85PRPF4B0.59048710
86IRAK10.58896633
87MAP3K10.58824780
88PRKCI0.58726316
89CAMK10.58360403
90BCKDK0.58340545
91TESK10.58321515
92NTRK20.57508106
93TEC0.57133286
94DYRK1A0.56827462
95CAMKK20.56252081
96CDK190.56102268
97PKN10.56040854
98STK380.55935059
99CDK80.55740366
100IKBKB0.54796971
101MAPK70.54690650
102PRKACA0.54331375
103NUAK10.53574333
104STK38L0.52972299
105PRKCE0.52783802
106STK160.52461167
107NME10.50518153
108CAMK2B0.50371453
109MAP2K40.49909844
110TIE10.49498237
111PRKCQ0.49477012
112DAPK10.49157009
113CAMK2D0.48746460
114PRKD10.46619434
115MAPKAPK30.46322389
116MAP3K70.44559843
117RPS6KA60.43749959
118PRKCA0.41484085
119PRKCZ0.41023203
120CHUK0.40381275
121ERBB40.39926511
122RPS6KA40.39820349
123MUSK0.39639392
124CSNK1D0.39150783
125PRKAA20.37667232
126FGFR20.37383306
127TGFBR10.37283214
128VRK20.36481328
129PLK10.35590058
130PHKG20.35521289
131PHKG10.35521289
132CSNK1E0.34382432
133EPHA30.33261399
134PDK20.33050656
135PRKG10.32958341
136MST1R0.32034884
137SIK20.31458612
138CSNK1G30.31182561
139RPS6KC10.31021515
140RPS6KL10.31021515
141IRAK20.30988638
142MAPKAPK50.30969194
143PRKAA10.29425912
144TNK20.29222367
145OXSR10.28724068
146CAMK2G0.28606365
147PIK3CA0.27208253
148STK240.26100974
149CAMK2A0.26024792
150ITK0.25367346
151CAMKK10.22343932
152MAPK30.21829720
153MAPKAPK20.21604722
154CSNK1G10.21260594
155CSNK1A10.20979039
156ABL10.20474167
157AKT20.19506524
158GSK3A0.18679593
159ROCK20.17892397
160MAPK10.16081053
161PDPK10.15877076
162BTK0.15108138

Predicted pathways (KEGG)

RankGene SetZ-score
1* Pentose and glucuronate interconversions_Homo sapiens_hsa000406.58144227
2* Ascorbate and aldarate metabolism_Homo sapiens_hsa000535.22768208
3* Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009804.99332841
4* Drug metabolism - cytochrome P450_Homo sapiens_hsa009824.91353412
5* Chemical carcinogenesis_Homo sapiens_hsa052044.27717073
6* Steroid hormone biosynthesis_Homo sapiens_hsa001403.79528851
7Sulfur metabolism_Homo sapiens_hsa009203.43003146
8Glutathione metabolism_Homo sapiens_hsa004803.02889356
9Phototransduction_Homo sapiens_hsa047442.87448144
10Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.59017383
11Linoleic acid metabolism_Homo sapiens_hsa005912.50558436
12Nicotine addiction_Homo sapiens_hsa050332.34535488
13* Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008602.24013823
14* Starch and sucrose metabolism_Homo sapiens_hsa005002.13893060
15Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.05254153
16Sulfur relay system_Homo sapiens_hsa041221.98572310
17Nitrogen metabolism_Homo sapiens_hsa009101.95314235
18* Retinol metabolism_Homo sapiens_hsa008301.93878426
19* Drug metabolism - other enzymes_Homo sapiens_hsa009831.92625910
20Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.88450351
21Butanoate metabolism_Homo sapiens_hsa006501.82108794
22Tryptophan metabolism_Homo sapiens_hsa003801.70980349
23Protein export_Homo sapiens_hsa030601.70697404
24Taste transduction_Homo sapiens_hsa047421.68074293
25alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.65180448
26Ether lipid metabolism_Homo sapiens_hsa005651.57061372
27Maturity onset diabetes of the young_Homo sapiens_hsa049501.45500246
28Homologous recombination_Homo sapiens_hsa034401.40145378
29Huntingtons disease_Homo sapiens_hsa050161.39584261
30Oxidative phosphorylation_Homo sapiens_hsa001901.39108405
31African trypanosomiasis_Homo sapiens_hsa051431.37864726
32Basal transcription factors_Homo sapiens_hsa030221.32205091
33Galactose metabolism_Homo sapiens_hsa000521.31616070
34Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.23030125
35Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.22572381
36Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.22488368
37ABC transporters_Homo sapiens_hsa020101.17384657
38Morphine addiction_Homo sapiens_hsa050321.17292200
39Propanoate metabolism_Homo sapiens_hsa006401.15915987
40Selenocompound metabolism_Homo sapiens_hsa004501.13189942
41Fanconi anemia pathway_Homo sapiens_hsa034601.09963471
42Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.06921574
43Caffeine metabolism_Homo sapiens_hsa002321.05309357
44Insulin secretion_Homo sapiens_hsa049111.03692535
45Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.02074714
46Rheumatoid arthritis_Homo sapiens_hsa053231.00802550
47Circadian entrainment_Homo sapiens_hsa047130.99665190
48Circadian rhythm_Homo sapiens_hsa047100.97711333
49Collecting duct acid secretion_Homo sapiens_hsa049660.97298380
50Parkinsons disease_Homo sapiens_hsa050120.94792907
51GABAergic synapse_Homo sapiens_hsa047270.94689564
52Glutamatergic synapse_Homo sapiens_hsa047240.94197259
53Salivary secretion_Homo sapiens_hsa049700.94018463
54Serotonergic synapse_Homo sapiens_hsa047260.91546418
55Mineral absorption_Homo sapiens_hsa049780.91149647
56Adherens junction_Homo sapiens_hsa045200.89969386
57RNA polymerase_Homo sapiens_hsa030200.86669892
58Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.85572683
59beta-Alanine metabolism_Homo sapiens_hsa004100.80768933
60Regulation of autophagy_Homo sapiens_hsa041400.79718580
61Calcium signaling pathway_Homo sapiens_hsa040200.79412180
62Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.78671665
63Gastric acid secretion_Homo sapiens_hsa049710.77260768
64Primary bile acid biosynthesis_Homo sapiens_hsa001200.72838515
65Glycerolipid metabolism_Homo sapiens_hsa005610.72788017
66TNF signaling pathway_Homo sapiens_hsa046680.71566233
67Sphingolipid metabolism_Homo sapiens_hsa006000.70228587
68Cardiac muscle contraction_Homo sapiens_hsa042600.67253883
69* Metabolic pathways_Homo sapiens_hsa011000.66634625
70Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.66161356
71One carbon pool by folate_Homo sapiens_hsa006700.65142743
72Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.65034487
73Ovarian steroidogenesis_Homo sapiens_hsa049130.64822128
74SNARE interactions in vesicular transport_Homo sapiens_hsa041300.62633584
75Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.62510426
76Prostate cancer_Homo sapiens_hsa052150.61169277
77Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.60581390
78Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.59617677
79RNA degradation_Homo sapiens_hsa030180.58472460
80Vibrio cholerae infection_Homo sapiens_hsa051100.58359692
81Alzheimers disease_Homo sapiens_hsa050100.57615144
82Dopaminergic synapse_Homo sapiens_hsa047280.56515887
83Fat digestion and absorption_Homo sapiens_hsa049750.55916256
84Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.53936434
85Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.53646124
86Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.53151727
87Olfactory transduction_Homo sapiens_hsa047400.51450964
88Toll-like receptor signaling pathway_Homo sapiens_hsa046200.51398675
89Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.48248035
90Prion diseases_Homo sapiens_hsa050200.48182942
91Glycerophospholipid metabolism_Homo sapiens_hsa005640.45946174
92cAMP signaling pathway_Homo sapiens_hsa040240.45640046
93Phenylalanine metabolism_Homo sapiens_hsa003600.45000600
94Notch signaling pathway_Homo sapiens_hsa043300.44222504
95Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.44216947
96Pertussis_Homo sapiens_hsa051330.44165230
97Melanoma_Homo sapiens_hsa052180.44144211
98Bile secretion_Homo sapiens_hsa049760.43904667
99Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.42041592
100Intestinal immune network for IgA production_Homo sapiens_hsa046720.40294549
101Phagosome_Homo sapiens_hsa041450.40085369
102Purine metabolism_Homo sapiens_hsa002300.39413490
103Cyanoamino acid metabolism_Homo sapiens_hsa004600.39005555
104Hedgehog signaling pathway_Homo sapiens_hsa043400.38583911
105NOD-like receptor signaling pathway_Homo sapiens_hsa046210.37185014
106Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.36797877
107Histidine metabolism_Homo sapiens_hsa003400.35363957
108Peroxisome_Homo sapiens_hsa041460.34845683
109Cysteine and methionine metabolism_Homo sapiens_hsa002700.34646096
110Cocaine addiction_Homo sapiens_hsa050300.34578987
111Axon guidance_Homo sapiens_hsa043600.34346810
112Glycosaminoglycan degradation_Homo sapiens_hsa005310.33526281
113Folate biosynthesis_Homo sapiens_hsa007900.31912110
114Prolactin signaling pathway_Homo sapiens_hsa049170.31497840
115Synaptic vesicle cycle_Homo sapiens_hsa047210.30987126
116Transcriptional misregulation in cancer_Homo sapiens_hsa052020.29678086
117Leukocyte transendothelial migration_Homo sapiens_hsa046700.28950156
118Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.28340398
119Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.27823728
120Basal cell carcinoma_Homo sapiens_hsa052170.27711267
121Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.27623160
122Tight junction_Homo sapiens_hsa045300.27455630
123Fatty acid elongation_Homo sapiens_hsa000620.27432390
124Legionellosis_Homo sapiens_hsa051340.26238436
125Graft-versus-host disease_Homo sapiens_hsa053320.26051564
126Type II diabetes mellitus_Homo sapiens_hsa049300.25773049
127Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.25376945
128Salmonella infection_Homo sapiens_hsa051320.24996671
129Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.24746122
130Renin secretion_Homo sapiens_hsa049240.23366821
131Hepatitis C_Homo sapiens_hsa051600.22856811
132Amphetamine addiction_Homo sapiens_hsa050310.22416348
133FoxO signaling pathway_Homo sapiens_hsa040680.21901595
134Arginine and proline metabolism_Homo sapiens_hsa003300.20905727
135Leishmaniasis_Homo sapiens_hsa051400.20852303
136Thyroid hormone synthesis_Homo sapiens_hsa049180.20067440
137Rap1 signaling pathway_Homo sapiens_hsa040150.19539557
138MAPK signaling pathway_Homo sapiens_hsa040100.18799783
139Steroid biosynthesis_Homo sapiens_hsa001000.18007026
140Hippo signaling pathway_Homo sapiens_hsa043900.17795255
141Aldosterone synthesis and secretion_Homo sapiens_hsa049250.17375950
142Tyrosine metabolism_Homo sapiens_hsa003500.16645090
143AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.16311162
144Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.15296158
145Arachidonic acid metabolism_Homo sapiens_hsa005900.15090450
146Fatty acid degradation_Homo sapiens_hsa000710.15073481
147Toxoplasmosis_Homo sapiens_hsa051450.14333972
148PPAR signaling pathway_Homo sapiens_hsa033200.13111148
149TGF-beta signaling pathway_Homo sapiens_hsa043500.12866339
150Malaria_Homo sapiens_hsa051440.12815193
151Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.12803352
152Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.11877837
153Osteoclast differentiation_Homo sapiens_hsa043800.10000488
154Amoebiasis_Homo sapiens_hsa051460.08482692
155Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.07150854

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