P2RY1

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 product of this gene belongs to the family of G-protein coupled receptors. This family has several receptor subtypes with different pharmacological selectivity, which overlaps in some cases, for various adenosine and uridine nucleotides. This receptor functions as a receptor for extracellular ATP and ADP. In platelets binding to ADP leads to mobilization of intracellular calcium ions via activation of phospholipase C, a change in platelet shape, and probably to platelet aggregation. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1COPI coating of Golgi vesicle (GO:0048205)7.10451881
2Golgi transport vesicle coating (GO:0048200)7.10451881
3endothelium development (GO:0003158)6.46261715
4glucose 6-phosphate metabolic process (GO:0051156)6.38442236
5protein maturation by protein folding (GO:0022417)6.32325553
6definitive hemopoiesis (GO:0060216)6.19433954
7endocrine pancreas development (GO:0031018)5.80186899
8negative regulation of calcium ion-dependent exocytosis (GO:0045955)5.78172888
9nuclear pore complex assembly (GO:0051292)5.76960805
10COPII vesicle coating (GO:0048208)5.70977341
11positive regulation of vasculogenesis (GO:2001214)5.47565131
12regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022355.43287251
13peptide hormone processing (GO:0016486)5.31801660
14nuclear pore organization (GO:0006999)5.25699503
15regulation of type B pancreatic cell apoptotic process (GO:2000674)5.11970086
16sequestering of metal ion (GO:0051238)5.05470943
17signal peptide processing (GO:0006465)4.93772546
18glandular epithelial cell differentiation (GO:0002067)4.61248877
19retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)4.56894770
20nerve growth factor signaling pathway (GO:0038180)4.54770427
21regulation of histone H3-K9 methylation (GO:0051570)4.48901810
22maintenance of protein localization in endoplasmic reticulum (GO:0035437)4.44717265
23Rap protein signal transduction (GO:0032486)4.30374169
24regulation of vasculogenesis (GO:2001212)4.22834511
25pore complex assembly (GO:0046931)4.17552585
26detection of calcium ion (GO:0005513)4.16673709
27thrombin receptor signaling pathway (GO:0070493)4.16466240
28positive regulation of insulin secretion (GO:0032024)4.12970256
29insulin secretion (GO:0030073)4.05455613
30DNA unwinding involved in DNA replication (GO:0006268)4.02105958
31type B pancreatic cell development (GO:0003323)3.95038893
32IMP metabolic process (GO:0046040)3.93216971
33negative regulation of phosphoprotein phosphatase activity (GO:0032515)3.90987304
34protein retention in ER lumen (GO:0006621)3.86555505
35IMP biosynthetic process (GO:0006188)3.86349508
36exocrine pancreas development (GO:0031017)3.76594129
37negative regulation of neurotransmitter secretion (GO:0046929)3.74111912
38regulation of insulin secretion (GO:0050796)3.67199668
393-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)3.63988417
40purine ribonucleoside bisphosphate metabolic process (GO:0034035)3.63988417
41negative regulation of erythrocyte differentiation (GO:0045647)3.61938566
42glycoside metabolic process (GO:0016137)3.60663945
43glandular epithelial cell development (GO:0002068)3.57572452
44vesicle coating (GO:0006901)3.57361684
45pre-miRNA processing (GO:0031054)3.55034336
46DNA topological change (GO:0006265)3.54813363
47granulocyte differentiation (GO:0030851)3.47840174
48activation of signaling protein activity involved in unfolded protein response (GO:0006987)3.44935695
49negative regulation of neurotransmitter transport (GO:0051589)3.42932692
50negative regulation of histone methylation (GO:0031061)3.41971132
51negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.39116845
52DNA replication checkpoint (GO:0000076)3.38166602
53mitotic G2/M transition checkpoint (GO:0044818)3.36761192
54positive regulation of glycolytic process (GO:0045821)3.36669999
55cellular zinc ion homeostasis (GO:0006882)3.35731809
56positive regulation of peptide hormone secretion (GO:0090277)3.35308485
57regulation of peptide hormone secretion (GO:0090276)3.34438474
58protoporphyrinogen IX metabolic process (GO:0046501)3.33928174
59sarcoplasmic reticulum calcium ion transport (GO:0070296)3.33768971
60mitotic sister chromatid cohesion (GO:0007064)3.33377393
61regulation of oxidative phosphorylation (GO:0002082)3.30885093
62toxin metabolic process (GO:0009404)3.29441277
63positive regulation of nuclease activity (GO:0032075)3.28358580
64regulation of peptide secretion (GO:0002791)3.27617450
65positive regulation of peptide secretion (GO:0002793)3.23016159
66atrial cardiac muscle cell action potential (GO:0086014)3.22842246
67ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)3.22787954
68gap junction assembly (GO:0016264)3.21401882
69ER overload response (GO:0006983)3.17050336
70erythrocyte maturation (GO:0043249)3.16563316
71regulation of hexokinase activity (GO:1903299)3.14754747
72regulation of glucokinase activity (GO:0033131)3.14754747
73mitotic G2 DNA damage checkpoint (GO:0007095)3.13419180
74alkaloid metabolic process (GO:0009820)3.13041661
75negative regulation of glycoprotein biosynthetic process (GO:0010561)3.12601639
76cellular response to nicotine (GO:0071316)3.10957942
77megakaryocyte development (GO:0035855)3.10520632
78L-phenylalanine catabolic process (GO:0006559)3.08177716
79erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.08177716
80DNA double-strand break processing (GO:0000729)3.03937401
81pyrimidine ribonucleoside catabolic process (GO:0046133)3.02434478
82lactate metabolic process (GO:0006089)3.01997340
83ER to Golgi vesicle-mediated transport (GO:0006888)3.01751324
84response to UV-C (GO:0010225)3.01284257
85negative regulation of calcium ion transport into cytosol (GO:0010523)3.01245436
86negative regulation of insulin secretion (GO:0046676)2.97320005
87purine nucleobase biosynthetic process (GO:0009113)2.96939285
88regulation of nuclease activity (GO:0032069)2.96779978
89regulation of chromatin silencing (GO:0031935)2.93538767
90protein neddylation (GO:0045116)2.93131140
91DNA replication-dependent nucleosome organization (GO:0034723)2.92806020
92DNA replication-dependent nucleosome assembly (GO:0006335)2.92806020
93interleukin-1-mediated signaling pathway (GO:0070498)2.92500299
94glucose homeostasis (GO:0042593)2.92012930
95carbohydrate homeostasis (GO:0033500)2.92012930
96endoplasmic reticulum unfolded protein response (GO:0030968)2.91276708
97regulation of RNA export from nucleus (GO:0046831)2.91266010
98peroxisome fission (GO:0016559)2.91254390
99rRNA methylation (GO:0031167)2.89363311
100carbohydrate phosphorylation (GO:0046835)2.89342891
101regulation of energy homeostasis (GO:2000505)2.88875471
102regulation of centriole replication (GO:0046599)2.87665658
103fatty acid homeostasis (GO:0055089)2.86488198
104response to hexose (GO:0009746)2.85475564
105cellular response to unfolded protein (GO:0034620)2.85024839
106* regulation of hormone secretion (GO:0046883)2.84352665
107peptide hormone secretion (GO:0030072)2.83869161
108macroautophagy (GO:0016236)2.83684725
109hematopoietic stem cell differentiation (GO:0060218)2.83154894
110ER-nucleus signaling pathway (GO:0006984)2.82998048
111bundle of His cell to Purkinje myocyte communication (GO:0086069)2.82803178
112tyrosine metabolic process (GO:0006570)2.82091882
113nucleoside diphosphate catabolic process (GO:0009134)2.82050184
114erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.81101633
115L-phenylalanine metabolic process (GO:0006558)2.81101633
116DNA geometric change (GO:0032392)2.79737372
117peptide secretion (GO:0002790)2.79371970
118response to glucose (GO:0009749)2.79155699
119nucleoside bisphosphate metabolic process (GO:0033865)2.78745212
120purine nucleoside bisphosphate metabolic process (GO:0034032)2.78745212
121ribonucleoside bisphosphate metabolic process (GO:0033875)2.78745212
122DNA duplex unwinding (GO:0032508)2.78527357
123skeletal muscle tissue regeneration (GO:0043403)2.78303932
124regulation of establishment of cell polarity (GO:2000114)2.76216386
125cellular response to thyroid hormone stimulus (GO:0097067)2.76082167
126ether lipid metabolic process (GO:0046485)2.75841550
127negative regulation of heart rate (GO:0010459)2.75163797
128intestinal cholesterol absorption (GO:0030299)2.74260418
129keratinization (GO:0031424)2.72800717
130cellular response to topologically incorrect protein (GO:0035967)2.71745315
131tricarboxylic acid metabolic process (GO:0072350)2.70968277
132response to monosaccharide (GO:0034284)2.70810137
133cellular response to glucagon stimulus (GO:0071377)2.70091864
1344-hydroxyproline metabolic process (GO:0019471)2.69239518
135intra-Golgi vesicle-mediated transport (GO:0006891)2.68968943
136regulation of peptide transport (GO:0090087)2.68915750
137cytoplasmic mRNA processing body assembly (GO:0033962)2.68740041
138protein localization to Golgi apparatus (GO:0034067)2.68661660
139chromatin remodeling at centromere (GO:0031055)2.67268186
140intestinal absorption (GO:0050892)2.67167107
141peripheral nervous system neuron development (GO:0048935)2.65928340
142nitric oxide mediated signal transduction (GO:0007263)2.65648543
143CENP-A containing nucleosome assembly (GO:0034080)2.65243476
144negative regulation of blood circulation (GO:1903523)2.64898252
145cytidine deamination (GO:0009972)2.64180280
146cytidine metabolic process (GO:0046087)2.64180280
147cytidine catabolic process (GO:0006216)2.64180280
148negative regulation of calcium ion transmembrane transport (GO:1903170)2.63174690
149negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.63174690
150protein N-linked glycosylation via asparagine (GO:0018279)2.62714484
151norepinephrine metabolic process (GO:0042415)2.62566690
152columnar/cuboidal epithelial cell development (GO:0002066)2.62026310
153membrane repolarization (GO:0086009)2.61405837
154negative regulation of mitotic sister chromatid separation (GO:2000816)2.60715890
155negative regulation of sister chromatid segregation (GO:0033046)2.60715890
156negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.60715890
157negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.60715890
158negative regulation of mitotic sister chromatid segregation (GO:0033048)2.60715890
159positive regulation of Rap GTPase activity (GO:0032854)2.58832159
160erythrocyte development (GO:0048821)2.58411893
161positive regulation of steroid hormone secretion (GO:2000833)2.58212257
162regulation of acyl-CoA biosynthetic process (GO:0050812)2.58097087
163establishment of skin barrier (GO:0061436)2.57641692
164regulation of histone H3-K4 methylation (GO:0051569)2.56794236
165regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.55997776
166DNA replication initiation (GO:0006270)2.55877535
167nodal signaling pathway (GO:0038092)2.55282386
168synapsis (GO:0007129)2.54039219
169regulation of pigment cell differentiation (GO:0050932)2.53444159
170positive regulation of histone methylation (GO:0031062)2.53440825
171negative regulation of chromosome segregation (GO:0051985)2.53313903
172somatic hypermutation of immunoglobulin genes (GO:0016446)2.52824832
173somatic diversification of immune receptors via somatic mutation (GO:0002566)2.52824832
174negative regulation of DNA-dependent DNA replication (GO:2000104)2.52805500
175regulation of mitotic metaphase/anaphase transition (GO:0030071)2.51846782
176regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.51846782
177DNA strand elongation involved in DNA replication (GO:0006271)2.51553356
178negative regulation of DNA recombination (GO:0045910)2.50777832
179early endosome to late endosome transport (GO:0045022)2.50405511
180regulation of sister chromatid segregation (GO:0033045)2.47923280
181regulation of mitotic sister chromatid separation (GO:0010965)2.47923280
182regulation of mitotic sister chromatid segregation (GO:0033047)2.47923280
183embryonic process involved in female pregnancy (GO:0060136)2.47653745
184positive regulation of developmental pigmentation (GO:0048087)2.46950805
185embryonic hemopoiesis (GO:0035162)2.46241616
186positive regulation of SMAD protein import into nucleus (GO:0060391)2.46169488
187DNA replication-independent nucleosome organization (GO:0034724)2.45178338
188DNA replication-independent nucleosome assembly (GO:0006336)2.45178338
189mitotic nuclear envelope disassembly (GO:0007077)2.45016466
190protein prenylation (GO:0018342)2.44796931
191prenylation (GO:0097354)2.44796931
192ribosome assembly (GO:0042255)2.44641493
193histone exchange (GO:0043486)2.44414215

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human7.00206375
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse5.41955816
3GATA1_22025678_ChIP-Seq_K562_Human4.63980407
4ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.24975469
5RXR_22158963_ChIP-Seq_LIVER_Mouse3.06109458
6SALL1_21062744_ChIP-ChIP_HESCs_Human3.02920812
7E2F4_17652178_ChIP-ChIP_JURKAT_Human2.87431596
8POU3F2_20337985_ChIP-ChIP_501MEL_Human2.79412467
9KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.70830374
10DMRT1_21621532_ChIP-ChIP_FETAL_Ovary2.54447177
11* LXR_22158963_ChIP-Seq_LIVER_Mouse2.52507603
12* SCL_19346495_ChIP-Seq_HPC-7_Human2.42780797
13PPARA_22158963_ChIP-Seq_LIVER_Mouse2.34525035
14FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.29807931
15FUS_26573619_Chip-Seq_HEK293_Human2.25658875
16EWS_26573619_Chip-Seq_HEK293_Human2.23151212
17CDX2_19796622_ChIP-Seq_MESCs_Mouse1.99771208
18PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.98969994
19AR_21909140_ChIP-Seq_LNCAP_Human1.95952970
20LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.88237480
21* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.86524429
22CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.85971412
23EGR1_19374776_ChIP-ChIP_THP-1_Human1.84026641
24HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.78942120
25HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.70954581
26NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.64422345
27ELK1_19687146_ChIP-ChIP_HELA_Human1.64067916
28SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.63802024
29PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.59609657
30RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.54986397
31KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.50115884
32KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.50115884
33KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.50115884
34E2F1_21310950_ChIP-Seq_MCF-7_Human1.49183307
35IGF1R_20145208_ChIP-Seq_DFB_Human1.48122636
36BCAT_22108803_ChIP-Seq_LS180_Human1.47533098
37* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.46398189
38FOXM1_23109430_ChIP-Seq_U2OS_Human1.46135541
39CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.45642814
40NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.42578842
41PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.42518369
42GATA2_21666600_ChIP-Seq_HMVEC_Human1.41928184
43ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.39053620
44* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.38710522
45EGR1_19032775_ChIP-ChIP_M12_Human1.38424230
46PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.36607185
47POU5F1_16153702_ChIP-ChIP_HESCs_Human1.34181336
48HTT_18923047_ChIP-ChIP_STHdh_Human1.33706417
49RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.32898769
50SALL4_18804426_ChIP-ChIP_XEN_Mouse1.31889723
51EZH2_27294783_Chip-Seq_NPCs_Mouse1.29867505
52HOXB4_20404135_ChIP-ChIP_EML_Mouse1.28511244
53* FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.27705960
54EGR1_23403033_ChIP-Seq_LIVER_Mouse1.27134153
55ZNF263_19887448_ChIP-Seq_K562_Human1.26189489
56SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.25358866
57TAF15_26573619_Chip-Seq_HEK293_Human1.24756587
58* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.23996288
59* SALL4_22934838_ChIP-ChIP_CD34+_Human1.23856382
60JARID2_20075857_ChIP-Seq_MESCs_Mouse1.23747321
61MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.22680371
62TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.20801498
63PIAS1_25552417_ChIP-Seq_VCAP_Human1.20780710
64SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.20729896
65SOX2_27498859_Chip-Seq_STOMACH_Mouse1.20717520
66PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.20172085
67SOX2_20726797_ChIP-Seq_SW620_Human1.18596560
68TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.18533419
69KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.18127201
70GATA1_19941826_ChIP-Seq_K562_Human1.17303832
71* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.16863482
72TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.16767098
73* AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.16418331
74REST_21632747_ChIP-Seq_MESCs_Mouse1.14965529
75VDR_22108803_ChIP-Seq_LS180_Human1.14554985
76MYCN_18555785_ChIP-Seq_MESCs_Mouse1.14396806
77SOX2_16153702_ChIP-ChIP_HESCs_Human1.13892495
78CDX2_22108803_ChIP-Seq_LS180_Human1.13600086
79NANOG_16153702_ChIP-ChIP_HESCs_Human1.13104865
80* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.12702776
81MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.12273654
82YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.11736273
83TCF3_18692474_ChIP-Seq_MESCs_Mouse1.11727457
84PADI4_21655091_ChIP-ChIP_MCF-7_Human1.10986203
85WT1_19549856_ChIP-ChIP_CCG9911_Human1.10619861
86OLIG2_26023283_ChIP-Seq_AINV15_Mouse1.09665869
87EZH2_27294783_Chip-Seq_ESCs_Mouse1.09645081
88FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.08784173
89BP1_19119308_ChIP-ChIP_Hs578T_Human1.07921545
90* PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.07813687
91NCOR1_26117541_ChIP-Seq_K562_Human1.07753284
92* KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.07256538
93Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.06131599
94GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.06087697
95REST_18959480_ChIP-ChIP_MESCs_Mouse1.03813160
96IRF8_22096565_ChIP-ChIP_GC-B_Human1.02766466
97FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.01935252
98E2F1_18555785_Chip-Seq_ESCs_Mouse1.01765374
99* MYB_21317192_ChIP-Seq_ERMYB_Mouse1.01614619
100* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.01446991
101GATA2_19941826_ChIP-Seq_K562_Human1.01417364
102* SMAD4_21799915_ChIP-Seq_A2780_Human1.01237647
103CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.00518253
104* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.00285660
105OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.00196310
106GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.00167578
107TCF3_18692474_ChIP-Seq_MEFs_Mouse1.00119012
108ER_23166858_ChIP-Seq_MCF-7_Human1.00005293
109NFYB_21822215_ChIP-Seq_K562_Human0.99290855
110TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.98580775
111TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse0.98450648
112UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.98323091
113* SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.97833958
114SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.97816739
115CREM_20920259_ChIP-Seq_GC1-SPG_Mouse0.97566238
116FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.97421648
117TFEB_21752829_ChIP-Seq_HELA_Human0.94939833
118TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.94866099
119OCT4_21477851_ChIP-Seq_ESCs_Mouse0.94467145
120FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human0.93764106
121GBX2_23144817_ChIP-Seq_PC3_Human0.92975523
122AR_20517297_ChIP-Seq_VCAP_Human0.92933466
123LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.92758963
124CHD1_26751641_Chip-Seq_LNCaP_Human0.92637454
125* TP63_23658742_ChIP-Seq_EP156T_Human0.92297199
126ETV1_20927104_ChIP-Seq_GIST48_Human0.92222891
127REST_19997604_ChIP-ChIP_NEURONS_Mouse0.91707705
128ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.91555041
129FOXA1_25552417_ChIP-Seq_VCAP_Human0.91134661
130PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.91047287
131* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90942234
132ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.90730615
133TCF4_22108803_ChIP-Seq_LS180_Human0.90364565
134CMYC_18555785_Chip-Seq_ESCs_Mouse0.90351726
135NACC1_18358816_ChIP-ChIP_MESCs_Mouse0.89834195
136POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.89034321
137TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89034321
138GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88585759
139POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.88573652
140HNFA_21074721_ChIP-Seq_CACO-2_Human0.88520784
141TCF4_18268006_ChIP-ChIP_LS174T_Human0.88469804
142* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88446266
143STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.88107495
144TBL1_22424771_ChIP-Seq_293T_Human0.87793137
145P53_22387025_ChIP-Seq_ESCs_Mouse0.87726851
146PHF8_20622853_ChIP-Seq_HELA_Human0.87534818
147ETS1_22383799_ChIP-Seq_G1ME_Mouse0.87520249
148* P300_19829295_ChIP-Seq_ESCs_Human0.87422928
149FOXA2_19822575_ChIP-Seq_HepG2_Human0.86740669
150FLI1_21867929_ChIP-Seq_TH2_Mouse0.86389993
151GATA3_24758297_ChIP-Seq_MCF-7_Human0.85739834
152ESR2_21235772_ChIP-Seq_MCF-7_Human0.85672774
153SMAD3_21741376_ChIP-Seq_ESCs_Human0.84564429
154STAT3_23295773_ChIP-Seq_U87_Human0.83924673
155* AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.83249603
156RBPJ_22232070_ChIP-Seq_NCS_Mouse0.83060807
157ESR1_21235772_ChIP-Seq_MCF-7_Human0.82654923
158ETV2_25802403_ChIP-Seq_MESCs_Mouse0.81828079
159ZNF274_21170338_ChIP-Seq_K562_Hela0.81752823
160ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.81622234
161ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.80887770
162* GATA4_25053715_ChIP-Seq_YYC3_Human0.80441999
163SOX2_19829295_ChIP-Seq_ESCs_Human0.79559378
164NANOG_19829295_ChIP-Seq_ESCs_Human0.79559378
165HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.79016171
166SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.79002516
167STAT3_18555785_Chip-Seq_ESCs_Mouse0.78627097
168NANOG_18555785_Chip-Seq_ESCs_Mouse0.78260680
169ERG_20517297_ChIP-Seq_VCAP_Human0.77567307
170EZH2_27304074_Chip-Seq_ESCs_Mouse0.77459639
171OCT4_20526341_ChIP-Seq_ESCs_Human0.77389978
172NRF2_20460467_ChIP-Seq_MEFs_Mouse0.76961949
173NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.76961949
174SUZ12_27294783_Chip-Seq_ESCs_Mouse0.76804654
175GATA1_19941827_ChIP-Seq_MEL_Mouse0.75407733

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002877_abnormal_melanocyte_morpholog4.77402839
2MP0008057_abnormal_DNA_replication4.46020655
3MP0009780_abnormal_chondrocyte_physiolo4.09022594
4MP0002837_dystrophic_cardiac_calcinosis3.67389235
5MP0002693_abnormal_pancreas_physiology3.62283027
6MP0002139_abnormal_hepatobiliary_system3.55381137
7MP0003183_abnormal_peptide_metabolism3.53326452
8MP0003283_abnormal_digestive_organ3.50601947
9MP0004043_abnormal_pH_regulation3.39578751
10MP0004147_increased_porphyrin_level3.34842330
11MP0005365_abnormal_bile_salt3.08061598
12MP0001944_abnormal_pancreas_morphology3.07217294
13MP0002909_abnormal_adrenal_gland2.91805357
14MP0005464_abnormal_platelet_physiology2.89175980
15MP0003195_calcinosis2.88109106
16MP0005379_endocrine/exocrine_gland_phen2.84589324
17MP0010352_gastrointestinal_tract_polyps2.75786743
18MP0002009_preneoplasia2.73461650
19MP0005085_abnormal_gallbladder_physiolo2.68045980
20MP0004957_abnormal_blastocyst_morpholog2.64682902
21MP0002796_impaired_skin_barrier2.55871763
22MP0010386_abnormal_urinary_bladder2.46392523
23MP0000013_abnormal_adipose_tissue2.46239670
24MP0005083_abnormal_biliary_tract2.45378105
25MP0001986_abnormal_taste_sensitivity2.42006153
26MP0010234_abnormal_vibrissa_follicle2.40273980
27MP0003890_abnormal_embryonic-extraembry2.39361879
28MP0010094_abnormal_chromosome_stability2.38119264
29MP0005646_abnormal_pituitary_gland2.35057254
30MP0002078_abnormal_glucose_homeostasis2.31276696
31MP0003111_abnormal_nucleus_morphology2.29335696
32MP0002638_abnormal_pupillary_reflex2.29137959
33MP0001188_hyperpigmentation2.23310071
34MP0004084_abnormal_cardiac_muscle2.17884467
35MP0005220_abnormal_exocrine_pancreas2.16363737
36MP0003941_abnormal_skin_development2.15994617
37MP0000465_gastrointestinal_hemorrhage2.14484782
38MP0003718_maternal_effect2.11099580
39MP0008058_abnormal_DNA_repair2.07011707
40MP0001730_embryonic_growth_arrest1.96252819
41MP0002396_abnormal_hematopoietic_system1.95780866
42MP0001666_abnormal_nutrient_absorption1.86990871
43MP0000678_abnormal_parathyroid_gland1.86579376
44MP0002928_abnormal_bile_duct1.83098258
45MP0003693_abnormal_embryo_hatching1.82933176
46MP0003252_abnormal_bile_duct1.81315287
47MP0005397_hematopoietic_system_phenotyp1.78646918
48MP0001545_abnormal_hematopoietic_system1.78646918
49MP0002138_abnormal_hepatobiliary_system1.71539983
50MP0005360_urolithiasis1.71361494
51MP0008961_abnormal_basal_metabolism1.67757763
52MP0003077_abnormal_cell_cycle1.64796436
53MP0009672_abnormal_birth_weight1.62206163
54MP0001270_distended_abdomen1.61283524
55MP0003300_gastrointestinal_ulcer1.58203976
56MP0005501_abnormal_skin_physiology1.57998423
57MP0005380_embryogenesis_phenotype1.57264460
58MP0001672_abnormal_embryogenesis/_devel1.57264460
59MP0002086_abnormal_extraembryonic_tissu1.53406436
60MP0003984_embryonic_growth_retardation1.52972992
61MP0008932_abnormal_embryonic_tissue1.52272371
62MP0005058_abnormal_lysosome_morphology1.51661467
63MP0000462_abnormal_digestive_system1.49148330
64MP0002088_abnormal_embryonic_growth/wei1.47607510
65MP0008875_abnormal_xenobiotic_pharmacok1.45738234
66MP0005535_abnormal_body_temperature1.44729723
67MP0009840_abnormal_foam_cell1.44189412
68MP0010678_abnormal_skin_adnexa1.43351364
69MP0009643_abnormal_urine_homeostasis1.43328915
70MP0002084_abnormal_developmental_patter1.41649436
71MP0010307_abnormal_tumor_latency1.41404830
72MP0003221_abnormal_cardiomyocyte_apopto1.40136471
73MP0001697_abnormal_embryo_size1.36875156
74MP0002118_abnormal_lipid_homeostasis1.36482303
75MP0005187_abnormal_penis_morphology1.35493476
76MP0003567_abnormal_fetal_cardiomyocyte1.34616355
77MP0010329_abnormal_lipoprotein_level1.34366298
78MP0003868_abnormal_feces_composition1.34353841
79MP0005636_abnormal_mineral_homeostasis1.33765998
80MP0002733_abnormal_thermal_nociception1.31938441
81MP0005647_abnormal_sex_gland1.30035922
82MP0000383_abnormal_hair_follicle1.27418563
83MP0002163_abnormal_gland_morphology1.27345597
84MP0003953_abnormal_hormone_level1.26694563
85MP0002735_abnormal_chemical_nociception1.26219727
86MP0008775_abnormal_heart_ventricle1.26022723
87MP0009703_decreased_birth_body1.25593693
88MP0003656_abnormal_erythrocyte_physiolo1.25107509
89MP0004808_abnormal_hematopoietic_stem1.23672639
90MP0000613_abnormal_salivary_gland1.23029057
91MP0000350_abnormal_cell_proliferation1.21647583
92MP0004264_abnormal_extraembryonic_tissu1.21149575
93MP0003866_abnormal_defecation1.20297247
94MP0006036_abnormal_mitochondrial_physio1.17060704
95MP0004484_altered_response_of1.15947811
96MP0008007_abnormal_cellular_replicative1.13569943
97MP0002080_prenatal_lethality1.13568785
98MP0001727_abnormal_embryo_implantation1.12021421
99MP0003828_pulmonary_edema1.11217192
100MP0008877_abnormal_DNA_methylation1.11207287
101MP0001765_abnormal_ion_homeostasis1.10986945
102MP0010630_abnormal_cardiac_muscle1.10972641
103MP0002876_abnormal_thyroid_physiology1.10911391
104MP0008995_early_reproductive_senescence1.10560278
105MP0006072_abnormal_retinal_apoptosis1.09856996
106MP0000230_abnormal_systemic_arterial1.09377962
107MP0000609_abnormal_liver_physiology1.06977969
108MP0004145_abnormal_muscle_electrophysio1.06521048
109MP0004270_analgesia1.05892889
110MP0003123_paternal_imprinting1.05803585
111MP0000681_abnormal_thyroid_gland1.05259573
112MP0001544_abnormal_cardiovascular_syste1.04893157
113MP0005385_cardiovascular_system_phenoty1.04893157
114MP0000003_abnormal_adipose_tissue1.04719885
115MP0004885_abnormal_endolymph1.03699984
116MP0001879_abnormal_lymphatic_vessel1.02401469
117MP0000579_abnormal_nail_morphology1.01945049
118MP0001784_abnormal_fluid_regulation1.01634853
119MP0005448_abnormal_energy_balance1.01412073
120MP0004197_abnormal_fetal_growth/weight/1.00498120
121MP0002896_abnormal_bone_mineralization1.00239168
122MP0001915_intracranial_hemorrhage0.99095002
123MP0001970_abnormal_pain_threshold0.98536294
124MP0006138_congestive_heart_failure0.98221619
125MP0000537_abnormal_urethra_morphology0.98171644
126MP0004185_abnormal_adipocyte_glucose0.97808691
127MP0004036_abnormal_muscle_relaxation0.96810838
128MP0002085_abnormal_embryonic_tissue0.96640763
129MP0002234_abnormal_pharynx_morphology0.96524115
130MP0005334_abnormal_fat_pad0.95729916
131MP0005167_abnormal_blood-brain_barrier0.94359503
132MP0000313_abnormal_cell_death0.93731000
133MP0003453_abnormal_keratinocyte_physiol0.92546807
134MP0005310_abnormal_salivary_gland0.91878608
135MP0003136_yellow_coat_color0.91712177
136MP0005620_abnormal_muscle_contractility0.91196479
137MP0009697_abnormal_copulation0.90842589
138MP0006054_spinal_hemorrhage0.90521382
139MP0004130_abnormal_muscle_cell0.89000217
140MP0008004_abnormal_stomach_pH0.88993320
141MP0000647_abnormal_sebaceous_gland0.88345788
142MP0000538_abnormal_urinary_bladder0.88246649
143MP0000266_abnormal_heart_morphology0.87986704
144MP0000749_muscle_degeneration0.87692803
145MP0009642_abnormal_blood_homeostasis0.87417874
146MP0005408_hypopigmentation0.86986066
147MP0000428_abnormal_craniofacial_morphol0.86129714
148MP0002090_abnormal_vision0.85537105
149MP0003172_abnormal_lysosome_physiology0.85429793
150MP0006035_abnormal_mitochondrial_morpho0.85172130
151MP0001191_abnormal_skin_condition0.84534679
152MP0001346_abnormal_lacrimal_gland0.84149562
153MP0003045_fibrosis0.83228897
154MP0005645_abnormal_hypothalamus_physiol0.82942996
155MP0003943_abnormal_hepatobiliary_system0.82796767
156MP0001502_abnormal_circadian_rhythm0.82540598
157MP0002095_abnormal_skin_pigmentation0.80362759
158MP0004215_abnormal_myocardial_fiber0.80254762
159MP0002925_abnormal_cardiovascular_devel0.79965659
160MP0002102_abnormal_ear_morphology0.79346897
161MP0001661_extended_life_span0.79336777
162MP0003879_abnormal_hair_cell0.78797351
163MP0001984_abnormal_olfaction0.78710573
164MP0002111_abnormal_tail_morphology0.78363859
165MP0003806_abnormal_nucleotide_metabolis0.77210522
166MP0001756_abnormal_urination0.77045699
167MP0005084_abnormal_gallbladder_morpholo0.75171276
168MP0004272_abnormal_basement_membrane0.75027955
169MP0003191_abnormal_cellular_cholesterol0.74833297
170MP0003937_abnormal_limbs/digits/tail_de0.74354608
171MP0001664_abnormal_digestion0.73169725
172MP0002734_abnormal_mechanical_nocicepti0.72664466
173MP0004858_abnormal_nervous_system0.72229184
174MP0000015_abnormal_ear_pigmentation0.70696215
175MP0003119_abnormal_digestive_system0.70271945
176MP0006276_abnormal_autonomic_nervous0.70063224
177MP0000377_abnormal_hair_follicle0.69696265
178MP0003959_abnormal_lean_body0.69544860
179MP0004085_abnormal_heartbeat0.69145567
180MP0004782_abnormal_surfactant_physiolog0.65890191
181MP0002971_abnormal_brown_adipose0.64540483
182MP0003724_increased_susceptibility_to0.61982005
183MP0002972_abnormal_cardiac_muscle0.61309282
184MP0005257_abnormal_intraocular_pressure0.57422319
185MP0000470_abnormal_stomach_morphology0.57243204
186MP0005319_abnormal_enzyme/_coenzyme0.57238991
187MP0005332_abnormal_amino_acid0.56074540
188MP0002751_abnormal_autonomic_nervous0.56017567
189MP0000639_abnormal_adrenal_gland0.55346944

Predicted human phenotypes

RankGene SetZ-score
1Hypoglycemic coma (HP:0001325)6.92386113
2Hyperinsulinemic hypoglycemia (HP:0000825)6.74487965
3Hypoglycemic seizures (HP:0002173)6.73861037
4Symptomatic seizures (HP:0011145)5.90070689
5Elevated circulating parathyroid hormone (PTH) level (HP:0003165)4.83907606
6Ketoacidosis (HP:0001993)4.70532935
7Cholecystitis (HP:0001082)4.14971203
8Abnormal gallbladder physiology (HP:0012438)4.14971203
9Late onset (HP:0003584)4.14250980
10Hyperglycemia (HP:0003074)4.01634284
11Thoracolumbar scoliosis (HP:0002944)3.95034004
12Insulin-resistant diabetes mellitus (HP:0000831)3.82147278
13Generalized aminoaciduria (HP:0002909)3.81938624
14Prolonged bleeding time (HP:0003010)3.77918684
15Short middle phalanx of the 5th finger (HP:0004220)3.76955351
16Abnormality of aromatic amino acid family metabolism (HP:0004338)3.67721357
17Poikilocytosis (HP:0004447)3.62754245
18Popliteal pterygium (HP:0009756)3.57589215
19Abnormality of calcium-phosphate metabolism (HP:0100530)3.55814418
20Abnormality of the pancreatic islet cells (HP:0006476)3.55712560
21Abnormality of endocrine pancreas physiology (HP:0012093)3.55712560
22Papillary thyroid carcinoma (HP:0002895)3.48080873
23Acute myeloid leukemia (HP:0004808)3.46824567
24Pheochromocytoma (HP:0002666)3.45416096
25Pancreatic islet-cell hyperplasia (HP:0004510)3.42110933
26Ketosis (HP:0001946)3.38816119
27Conjugated hyperbilirubinemia (HP:0002908)3.29002271
28Peripheral hypomyelination (HP:0007182)3.28585009
29Abnormality of the heme biosynthetic pathway (HP:0010472)3.20957865
30Abnormal gallbladder morphology (HP:0012437)3.17099263
31Increased mean platelet volume (HP:0011877)3.16951384
32Petechiae (HP:0000967)3.12200250
33Neuroendocrine neoplasm (HP:0100634)3.11218093
34Large for gestational age (HP:0001520)3.10591795
35Hypothermia (HP:0002045)2.97829170
36Hyperbilirubinemia (HP:0002904)2.96297717
37Cholelithiasis (HP:0001081)2.91211494
38Thyroid carcinoma (HP:0002890)2.88922964
39Absent eyebrow (HP:0002223)2.86938984
40Neoplasm of the adrenal cortex (HP:0100641)2.86431941
41Exercise-induced muscle cramps (HP:0003710)2.85699788
42Birth length less than 3rd percentile (HP:0003561)2.84490404
43Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.83692651
44Biliary tract neoplasm (HP:0100574)2.81011580
45Cortical dysplasia (HP:0002539)2.78538497
46Abnormal platelet volume (HP:0011876)2.75599905
47Curly hair (HP:0002212)2.75321318
48Tetraparesis (HP:0002273)2.73183320
49Cutaneous finger syndactyly (HP:0010554)2.72254864
50Mucopolysacchariduria (HP:0008155)2.71286974
51Urinary glycosaminoglycan excretion (HP:0003541)2.71286974
52Long clavicles (HP:0000890)2.67207896
53Abnormal pancreas size (HP:0012094)2.65150807
54Abnormality of the intrinsic pathway (HP:0010989)2.64588181
55Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.62517399
56Submucous cleft hard palate (HP:0000176)2.61235123
57Dysostosis multiplex (HP:0000943)2.59660607
58Insulin resistance (HP:0000855)2.56549340
59Nemaline bodies (HP:0003798)2.54833679
60Decreased circulating renin level (HP:0003351)2.54383848
61Neoplasm of the small intestine (HP:0100833)2.53725220
62Abnormality of polysaccharide metabolism (HP:0011012)2.50932166
63Abnormality of glycosaminoglycan metabolism (HP:0004371)2.50932166
64Abnormality of mucopolysaccharide metabolism (HP:0011020)2.50932166
65Difficulty running (HP:0009046)2.50396234
66Muscle fiber inclusion bodies (HP:0100299)2.50076540
67Agitation (HP:0000713)2.44067985
68Intrahepatic cholestasis (HP:0001406)2.43257008
69Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.36044690
70Neoplasm of the adrenal gland (HP:0100631)2.34734370
71Capillary hemangiomas (HP:0005306)2.34565027
72Impaired platelet aggregation (HP:0003540)2.33115210
73Abnormal platelet function (HP:0011869)2.33115210
74Rimmed vacuoles (HP:0003805)2.32971441
75Reticulocytosis (HP:0001923)2.30025857
76Abnormal large intestine physiology (HP:0012700)2.29280008
77Hyperkalemia (HP:0002153)2.27965886
78Abnormality of urine glucose concentration (HP:0011016)2.27820975
79Glycosuria (HP:0003076)2.27820975
80Myoglobinuria (HP:0002913)2.27260662
81Palpitations (HP:0001962)2.26204914
82Osteomalacia (HP:0002749)2.24913243
83Global brain atrophy (HP:0002283)2.24823631
84Absent eyelashes (HP:0000561)2.23988061
85Abnormality of the labia minora (HP:0012880)2.23738272
86Hypercortisolism (HP:0001578)2.22758646
87Cutaneous syndactyly (HP:0012725)2.22596046
88Spastic diplegia (HP:0001264)2.21061841
89Abnormality of the common coagulation pathway (HP:0010990)2.20603417
90Bowel incontinence (HP:0002607)2.20005528
91Gout (HP:0001997)2.19424207
92Acanthocytosis (HP:0001927)2.19087629
93Xanthomatosis (HP:0000991)2.18908397
94Increased density of long bones (HP:0006392)2.18652578
95Polycythemia (HP:0001901)2.16421099
96Hypobetalipoproteinemia (HP:0003563)2.15407305
97Areflexia of lower limbs (HP:0002522)2.14319635
98Multiple enchondromatosis (HP:0005701)2.14128874
99Visual hallucinations (HP:0002367)2.12096651
100Rhabdomyosarcoma (HP:0002859)2.11900558
101Abnormality of the gallbladder (HP:0005264)2.11754780
102Limb hypertonia (HP:0002509)2.11208785
103Hepatic necrosis (HP:0002605)2.11129302
104Muscle hypertrophy of the lower extremities (HP:0008968)2.10335996
105Hypokalemia (HP:0002900)2.09921694
106Bifid tongue (HP:0010297)2.09098168
107Homocystinuria (HP:0002156)2.08869406
108Abnormality of homocysteine metabolism (HP:0010919)2.08869406
109Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.07681536
110Calf muscle hypertrophy (HP:0008981)2.05676422
111Abnormality of fatty-acid metabolism (HP:0004359)2.05128351
112Palmar hyperkeratosis (HP:0010765)2.04507256
113Hyperparathyroidism (HP:0000843)2.03482354
114Acute necrotizing encephalopathy (HP:0006965)2.02537603
115Septate vagina (HP:0001153)2.02394020
116Distal arthrogryposis (HP:0005684)2.02039194
117Acute lymphatic leukemia (HP:0006721)2.01859586
118Erythroderma (HP:0001019)2.01493367
119Gastrointestinal carcinoma (HP:0002672)2.00741792
120Malignant gastrointestinal tract tumors (HP:0006749)2.00741792
121Abnormal mitochondria in muscle tissue (HP:0008316)1.98771876
122Asymmetric septal hypertrophy (HP:0001670)1.98684628
123Vacuolated lymphocytes (HP:0001922)1.97568667
124Postural tremor (HP:0002174)1.97145218
125Exercise-induced myalgia (HP:0003738)1.96729091
126Acute encephalopathy (HP:0006846)1.96440485
127Abnormality of magnesium homeostasis (HP:0004921)1.95871596
128Aplasia/Hypoplasia of the middle phalanx of the 5th finger (HP:0009161)1.93334691
129Selective tooth agenesis (HP:0001592)1.93238405
130Long nose (HP:0003189)1.93217551
131Paralysis (HP:0003470)1.92973187
132Hypoplastic labia majora (HP:0000059)1.92669194
133Abnormality of potassium homeostasis (HP:0011042)1.92293695
134Abnormality of the left ventricular outflow tract (HP:0011103)1.92128264
135Subaortic stenosis (HP:0001682)1.92128264
136Dysautonomia (HP:0002459)1.91700613
137Prolonged partial thromboplastin time (HP:0003645)1.91700509
138Shoulder girdle muscle weakness (HP:0003547)1.90448604
139Hypomagnesemia (HP:0002917)1.89268757
140Abnormality of dicarboxylic acid metabolism (HP:0010995)1.88612090
141Dicarboxylic aciduria (HP:0003215)1.88612090
142Hyperphosphaturia (HP:0003109)1.87971459
143White forelock (HP:0002211)1.87317613
144Ovarian neoplasm (HP:0100615)1.86498519
145Right ventricular cardiomyopathy (HP:0011663)1.85970656
146Abnormality of nail color (HP:0100643)1.85894067
147Ventricular fibrillation (HP:0001663)1.85692866
148Abnormal protein glycosylation (HP:0012346)1.85390753
149Abnormal glycosylation (HP:0012345)1.85390753
150Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.85390753
151Abnormal protein N-linked glycosylation (HP:0012347)1.85390753
152Neoplasm of the thyroid gland (HP:0100031)1.83396874
153Abdominal distention (HP:0003270)1.82996631
154Abnormal hair whorl (HP:0010721)1.82003162
155Abnormality of purine metabolism (HP:0004352)1.81508628
156Exocrine pancreatic insufficiency (HP:0001738)1.80806621
157Neoplasm of the colon (HP:0100273)1.80742434
158Retinal atrophy (HP:0001105)1.80146409
159Palmoplantar hyperkeratosis (HP:0000972)1.79971443
160Hypophosphatemia (HP:0002148)1.79054690
161Transitional cell carcinoma of the bladder (HP:0006740)1.79017938
162Abnormality of monocarboxylic acid metabolism (HP:0010996)1.78192470
163Pelvic girdle muscle weakness (HP:0003749)1.77850510
164Abnormality of lateral ventricle (HP:0030047)1.77767744
165Patchy hypopigmentation of hair (HP:0011365)1.75580836
166Bladder carcinoma (HP:0002862)1.74963288
167Bladder neoplasm (HP:0009725)1.74963288
168Menstrual irregularities (HP:0000858)1.74869010
169Atrioventricular block (HP:0001678)1.74601354
170Neoplasm of the rectum (HP:0100743)1.74522658
171Progressive macrocephaly (HP:0004481)1.74275914
172Abnormality of the vasculature of the conjunctiva (HP:0008054)1.74219952
173Abnormality of secondary sexual hair (HP:0009888)1.73833090
174Abnormality of the axillary hair (HP:0100134)1.73833090
175Abnormal biliary tract morphology (HP:0012440)1.73420724
176Mask-like facies (HP:0000298)1.72901990
177Hepatoblastoma (HP:0002884)1.72784484
178Skin nodule (HP:0200036)1.72532990
179Conjunctival telangiectasia (HP:0000524)1.72120400
180Abnormality of the labia majora (HP:0012881)1.70136574
181Chromsome breakage (HP:0040012)1.69447392
182Medulloblastoma (HP:0002885)1.69032716
183Nephroblastoma (Wilms tumor) (HP:0002667)1.67992426
184Ankyloglossia (HP:0010296)1.67968181
185Spontaneous hematomas (HP:0007420)1.67672196
186Abnormality of the columella (HP:0009929)1.67332414
187Aplasia/Hypoplasia of the phalanges of the 5th finger (HP:0009376)1.67017667
188Myelodysplasia (HP:0002863)1.66771620

Predicted kinase interactions (KEA)

RankGene SetZ-score
1INSRR5.71125759
2MAP3K24.51005552
3PASK4.40513043
4MAPK153.14006399
5KDR3.13531057
6TAOK33.08628946
7HIPK22.95463744
8MKNK22.76215235
9STK242.73578684
10EPHA32.63731210
11MKNK12.61568587
12FRK2.44311979
13BMPR1B2.42282055
14CDC72.36282776
15ACVR1B2.34030296
16TTK2.30512029
17STK32.24909699
18CDK82.22220098
19ERN12.12130429
20EIF2AK12.03102727
21PLK42.02218397
22MAP3K12.00474905
23GRK51.89001958
24MST41.87833345
25FLT31.87568865
26MAP3K41.86964173
27TRIM281.83004160
28EEF2K1.77180688
29IRAK11.71505732
30BLK1.67384926
31CAMKK21.65484110
32WNK41.64405396
33BCKDK1.63253351
34PBK1.55921868
35RET1.55863130
36ZAK1.52687329
37PLK31.45651173
38NUAK11.44390602
39PRKD31.43590975
40MAPKAPK51.40935031
41YES11.39859175
42KSR21.37360544
43BRD41.34217263
44SCYL21.33869759
45EIF2AK31.33278229
46LMTK21.29104353
47NTRK11.25363082
48TSSK61.21965286
49MAP2K21.21144490
50WEE11.21113747
51PTK2B1.20394235
52ERBB31.19775000
53BMPR21.19085694
54BMX1.17125328
55MUSK1.15792638
56PINK11.14402124
57UHMK11.12722341
58RIPK41.11712049
59PIM11.10199586
60FGFR41.05924263
61JAK21.05568322
62DMPK1.04785683
63RAF11.04336169
64CAMK1G1.03791409
65PTK61.00731696
66TLK10.98690802
67EPHB10.98593585
68TRIB30.97839495
69PIK3CG0.97629466
70PIM20.96912847
71CDK60.96820556
72SIK10.95944432
73NTRK30.95865636
74STK38L0.95391591
75NLK0.91907376
76PTK20.90084005
77MAP2K70.90059318
78BRSK20.89881728
79ATM0.89780253
80MAP3K100.89121963
81CSNK1G10.89070990
82PLK20.88810031
83TESK10.88220604
84TRPM70.87557879
85PLK10.86773436
86MAP3K110.86000158
87FGFR30.84763463
88RPS6KA40.83457820
89LATS10.80276497
90KSR10.79857136
91MAP3K30.79623296
92ATR0.75623320
93PRKCE0.74246180
94ARAF0.73884759
95PDGFRA0.73720752
96TAF10.72498490
97SGK20.71456105
98RPS6KA20.71193870
99PNCK0.70277420
100RPS6KB10.70142008
101PAK30.69007282
102FGFR20.68018610
103ERBB40.67979794
104PRKD10.67459068
105TGFBR10.67158043
106SRPK10.66367739
107CDC42BPA0.64809332
108RPS6KB20.62122226
109PRKCH0.61234191
110MAPK110.60834713
111CDK30.60356731
112PRKACG0.59560258
113TEC0.59082172
114DYRK30.59012814
115PRKAA10.58921605
116PHKG10.58369139
117PHKG20.58369139
118DYRK1B0.56299482
119MAP2K10.55552014
120MAP3K60.55483475
121TNIK0.54510834
122TESK20.53895995
123JAK10.53742831
124CHEK20.53351582
125CHEK10.53066917
126NEK20.52550575
127FER0.51860298
128CAMK2D0.51636032
129IRAK30.50313283
130STK40.49971130
131IRAK20.49587353
132MAPK130.48189537
133BRAF0.46959644
134BUB10.46865907
135MAPK100.46470156
136PRKG20.46450578
137ALK0.46228502
138TIE10.45744090
139CLK10.45445824
140CAMK1D0.44825595
141SGK30.44649013
142TYK20.44403135
143MARK30.43991930
144MAPK120.43797992
145SGK4940.42876666
146SGK2230.42876666
147MET0.42715074
148CSNK1G20.42588101
149FES0.41826692
150CDK20.41640213
151ZAP700.41201962
152PRKAA20.40775144
153PRKACA0.40442133
154CDK10.39819739
155SIK30.39090115
156CSNK1E0.38869528
157WNK10.38761550
158MAPKAPK30.38444226
159ITK0.38189150
160GSK3A0.35136637
161CAMKK10.34334553
162EIF2AK20.33452539
163MST1R0.33156513
164NEK10.32981681
165JAK30.32686614
166MAPK70.31852897
167PRKDC0.31755322
168LIMK10.30350752
169TBK10.29848683
170IGF1R0.28597200
171OBSCN0.28569849
172CDK50.28243056
173STK160.26439887
174CAMK2G0.23190236
175MAP4K10.22111018
176RIPK10.21286929

Predicted pathways (KEGG)

RankGene SetZ-score
1Maturity onset diabetes of the young_Homo sapiens_hsa049506.82283866
2Butirosin and neomycin biosynthesis_Homo sapiens_hsa005246.69726526
3Protein export_Homo sapiens_hsa030603.85289898
4Sulfur metabolism_Homo sapiens_hsa009203.47867848
5Mismatch repair_Homo sapiens_hsa034303.14672107
6Carbohydrate digestion and absorption_Homo sapiens_hsa049732.67527950
7Insulin secretion_Homo sapiens_hsa049112.32748460
8Type II diabetes mellitus_Homo sapiens_hsa049302.19307696
9Non-homologous end-joining_Homo sapiens_hsa034502.06531621
10Cell cycle_Homo sapiens_hsa041102.00622117
11DNA replication_Homo sapiens_hsa030302.00456989
12* Platelet activation_Homo sapiens_hsa046111.99681373
13Starch and sucrose metabolism_Homo sapiens_hsa005001.94742449
14Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.92841806
15Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.83662800
16Galactose metabolism_Homo sapiens_hsa000521.78996286
17Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.77109929
18Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.76769094
19Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.71455394
20RNA transport_Homo sapiens_hsa030131.56610287
21Cysteine and methionine metabolism_Homo sapiens_hsa002701.53480425
22Tryptophan metabolism_Homo sapiens_hsa003801.51518409
23Oocyte meiosis_Homo sapiens_hsa041141.49601903
24One carbon pool by folate_Homo sapiens_hsa006701.40388135
25Vibrio cholerae infection_Homo sapiens_hsa051101.39818859
26Steroid biosynthesis_Homo sapiens_hsa001001.36824480
27mRNA surveillance pathway_Homo sapiens_hsa030151.35309791
28Butanoate metabolism_Homo sapiens_hsa006501.34185793
29Fatty acid degradation_Homo sapiens_hsa000711.32418164
30Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.30965426
31Long-term depression_Homo sapiens_hsa047301.30007301
32ABC transporters_Homo sapiens_hsa020101.28550627
33Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.28077508
34Selenocompound metabolism_Homo sapiens_hsa004501.26801893
35Fanconi anemia pathway_Homo sapiens_hsa034601.24558045
36Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.22247613
37Progesterone-mediated oocyte maturation_Homo sapiens_hsa049141.21479420
38Homologous recombination_Homo sapiens_hsa034401.17240542
39Fatty acid elongation_Homo sapiens_hsa000621.16026118
402-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.12696371
41Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.12635365
42Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.12421286
43Basal transcription factors_Homo sapiens_hsa030221.09428118
44Spliceosome_Homo sapiens_hsa030401.08430234
45Lysosome_Homo sapiens_hsa041421.08204869
46Primary bile acid biosynthesis_Homo sapiens_hsa001201.08039668
47Regulation of autophagy_Homo sapiens_hsa041401.07966309
48Histidine metabolism_Homo sapiens_hsa003401.06672462
49Transcriptional misregulation in cancer_Homo sapiens_hsa052021.05905770
50N-Glycan biosynthesis_Homo sapiens_hsa005101.05124242
51Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.04444144
52Insulin resistance_Homo sapiens_hsa049311.02073924
53Phenylalanine metabolism_Homo sapiens_hsa003601.01760143
54RNA degradation_Homo sapiens_hsa030181.01467915
55Oxidative phosphorylation_Homo sapiens_hsa001901.01128890
56Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.00065577
57Adherens junction_Homo sapiens_hsa045200.99487878
58Other glycan degradation_Homo sapiens_hsa005110.98004826
59Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.96240086
60Long-term potentiation_Homo sapiens_hsa047200.91578801
61Fructose and mannose metabolism_Homo sapiens_hsa000510.90827890
62Vascular smooth muscle contraction_Homo sapiens_hsa042700.90716864
63Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.88502583
64Parkinsons disease_Homo sapiens_hsa050120.88011298
65Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.87785902
66Folate biosynthesis_Homo sapiens_hsa007900.87760391
67Circadian rhythm_Homo sapiens_hsa047100.87082969
68Glycosaminoglycan degradation_Homo sapiens_hsa005310.85930503
69Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.85237513
70Cocaine addiction_Homo sapiens_hsa050300.85097220
71Gap junction_Homo sapiens_hsa045400.84256609
72Tyrosine metabolism_Homo sapiens_hsa003500.83368262
73Type I diabetes mellitus_Homo sapiens_hsa049400.83359502
74Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.82814819
75Bile secretion_Homo sapiens_hsa049760.82126427
76SNARE interactions in vesicular transport_Homo sapiens_hsa041300.80360370
77Peroxisome_Homo sapiens_hsa041460.79622324
78Chronic myeloid leukemia_Homo sapiens_hsa052200.79040129
79Prolactin signaling pathway_Homo sapiens_hsa049170.78661947
80Collecting duct acid secretion_Homo sapiens_hsa049660.78241419
81Renin secretion_Homo sapiens_hsa049240.77430820
82Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.75775768
83Prostate cancer_Homo sapiens_hsa052150.75435995
84Alzheimers disease_Homo sapiens_hsa050100.74585384
85Arginine and proline metabolism_Homo sapiens_hsa003300.73860826
86Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.73534669
87Pancreatic secretion_Homo sapiens_hsa049720.73027694
88Fat digestion and absorption_Homo sapiens_hsa049750.71885352
89Olfactory transduction_Homo sapiens_hsa047400.71865183
90mTOR signaling pathway_Homo sapiens_hsa041500.71631537
91Insulin signaling pathway_Homo sapiens_hsa049100.71204493
92alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.70901862
93MicroRNAs in cancer_Homo sapiens_hsa052060.68977527
94Fatty acid metabolism_Homo sapiens_hsa012120.67304925
95Propanoate metabolism_Homo sapiens_hsa006400.67218693
96p53 signaling pathway_Homo sapiens_hsa041150.65395544
97Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.65344885
98AMPK signaling pathway_Homo sapiens_hsa041520.65222397
99Pentose phosphate pathway_Homo sapiens_hsa000300.64063904
100Glucagon signaling pathway_Homo sapiens_hsa049220.61133533
101Cardiac muscle contraction_Homo sapiens_hsa042600.60218099
102Nucleotide excision repair_Homo sapiens_hsa034200.60138714
103* Taste transduction_Homo sapiens_hsa047420.59813043
104Thyroid hormone synthesis_Homo sapiens_hsa049180.58968984
105Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.58645260
106Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.58130503
107Ether lipid metabolism_Homo sapiens_hsa005650.58019595
108Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.57885125
109Synaptic vesicle cycle_Homo sapiens_hsa047210.57716094
110Renal cell carcinoma_Homo sapiens_hsa052110.56492139
111Prion diseases_Homo sapiens_hsa050200.55539383
112Purine metabolism_Homo sapiens_hsa002300.55153031
113Colorectal cancer_Homo sapiens_hsa052100.55033367
114Thyroid cancer_Homo sapiens_hsa052160.54962606
115Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.54331075
116Glycerophospholipid metabolism_Homo sapiens_hsa005640.53951954
117Inositol phosphate metabolism_Homo sapiens_hsa005620.53067225
118Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.52745107
119Pancreatic cancer_Homo sapiens_hsa052120.50112031
120Biosynthesis of amino acids_Homo sapiens_hsa012300.48801464
121Sphingolipid metabolism_Homo sapiens_hsa006000.48638839
122Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.48117394
123Alcoholism_Homo sapiens_hsa050340.48007350
124Thyroid hormone signaling pathway_Homo sapiens_hsa049190.45391617
125Arachidonic acid metabolism_Homo sapiens_hsa005900.44961241
126Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.44885002
127Tight junction_Homo sapiens_hsa045300.44844671
128Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.43869042
129Vitamin digestion and absorption_Homo sapiens_hsa049770.43607493
130TGF-beta signaling pathway_Homo sapiens_hsa043500.43108193
131Ras signaling pathway_Homo sapiens_hsa040140.42798993
132Pentose and glucuronate interconversions_Homo sapiens_hsa000400.41892084
133Lysine degradation_Homo sapiens_hsa003100.40961227
134Mineral absorption_Homo sapiens_hsa049780.39930943
135beta-Alanine metabolism_Homo sapiens_hsa004100.39646098
136Nitrogen metabolism_Homo sapiens_hsa009100.39048163
137Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.36433309
138Central carbon metabolism in cancer_Homo sapiens_hsa052300.36198714
139Serotonergic synapse_Homo sapiens_hsa047260.35116965
140PPAR signaling pathway_Homo sapiens_hsa033200.33844448
141Dorso-ventral axis formation_Homo sapiens_hsa043200.32398666
142Amphetamine addiction_Homo sapiens_hsa050310.32153766
143Adipocytokine signaling pathway_Homo sapiens_hsa049200.31965556
144Phagosome_Homo sapiens_hsa041450.29377032
145Dopaminergic synapse_Homo sapiens_hsa047280.28341730
146Complement and coagulation cascades_Homo sapiens_hsa046100.28173270
147Cholinergic synapse_Homo sapiens_hsa047250.27464921
148Metabolic pathways_Homo sapiens_hsa011000.25270479
149Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.24383669
150cGMP-PKG signaling pathway_Homo sapiens_hsa040220.23542303
151Carbon metabolism_Homo sapiens_hsa012000.22886982
152Arginine biosynthesis_Homo sapiens_hsa002200.22358086
153Pyruvate metabolism_Homo sapiens_hsa006200.19981388
154Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.19802153
155Aldosterone synthesis and secretion_Homo sapiens_hsa049250.19327873
156Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.18162397
157Drug metabolism - other enzymes_Homo sapiens_hsa009830.18141409
158Protein digestion and absorption_Homo sapiens_hsa049740.18081388
159Circadian entrainment_Homo sapiens_hsa047130.17414824
160Renin-angiotensin system_Homo sapiens_hsa046140.17389390
161Huntingtons disease_Homo sapiens_hsa050160.17213322
162Linoleic acid metabolism_Homo sapiens_hsa005910.14721607

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