P2RY11

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 is coupled to the stimulation of the phosphoinositide and adenylyl cyclase pathways and behaves as a selective purinoceptor. Naturally occuring read-through transcripts, resulting from intergenic splicing between this gene and an immediately upstream gene (PPAN, encoding peter pan homolog), have been found. The PPAN-P2RY11 read-through mRNA is ubiquitously expressed and encodes a fusion protein that shares identity with each individual gene product. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1GDP-mannose metabolic process (GO:0019673)8.11482577
2DNA strand renaturation (GO:0000733)7.77987003
3negative regulation of cell aging (GO:0090344)7.13458768
4rRNA methylation (GO:0031167)6.39411917
5regulation of skeletal muscle contraction (GO:0014819)6.31122228
6meiotic chromosome segregation (GO:0045132)5.84347767
7rRNA modification (GO:0000154)5.79468710
8lens fiber cell differentiation (GO:0070306)5.45075181
9negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)5.38819737
10regulation of synapse structural plasticity (GO:0051823)5.29035867
11positive regulation of protein kinase C signaling (GO:0090037)5.21890668
12adenine nucleotide transport (GO:0051503)5.03799167
13ribosomal small subunit biogenesis (GO:0042274)4.99348325
14purine ribonucleotide transport (GO:0015868)4.85849336
15mitotic cell cycle arrest (GO:0071850)4.82440349
16UV protection (GO:0009650)4.77554722
17nucleoside transmembrane transport (GO:1901642)4.69801111
18peptidyl-glutamic acid carboxylation (GO:0017187)4.54470972
19protein carboxylation (GO:0018214)4.54470972
20sensory perception of taste (GO:0050909)4.45017577
21DNA replication checkpoint (GO:0000076)4.32874796
22regulation of cytokine production involved in inflammatory response (GO:1900015)4.32126170
23regulation of cell aging (GO:0090342)4.06762939
24nucleotide transmembrane transport (GO:1901679)4.02604566
25mannose metabolic process (GO:0006013)4.01147711
26behavioral response to nicotine (GO:0035095)3.97558901
27positive regulation of heat generation (GO:0031652)3.95608481
28tRNA modification (GO:0006400)3.93929790
29interferon-gamma production (GO:0032609)3.80419680
30purine nucleotide transport (GO:0015865)3.73803770
31oligosaccharide catabolic process (GO:0009313)3.68650897
32positive regulation of type I interferon-mediated signaling pathway (GO:0060340)3.66856192
33phosphatidylglycerol biosynthetic process (GO:0006655)3.66723162
34urinary tract smooth muscle contraction (GO:0014848)3.63416515
35regulation of interferon-beta biosynthetic process (GO:0045357)3.57755967
36protein insertion into membrane (GO:0051205)3.55886994
37transepithelial transport (GO:0070633)3.51239659
38grooming behavior (GO:0007625)3.43172210
39nucleoside transport (GO:0015858)3.43100058
40regulation of protein kinase A signaling (GO:0010738)3.41377470
41pseudouridine synthesis (GO:0001522)3.39206845
42regulation of nuclear cell cycle DNA replication (GO:0033262)3.34701583
43negative regulation of tumor necrosis factor production (GO:0032720)3.34416834
44diol metabolic process (GO:0034311)3.25683328
45melanin biosynthetic process (GO:0042438)3.25251546
46detection of light stimulus involved in visual perception (GO:0050908)3.23175836
47detection of light stimulus involved in sensory perception (GO:0050962)3.23175836
48amino sugar catabolic process (GO:0046348)3.23146559
49granulocyte differentiation (GO:0030851)3.22930103
50negative regulation of tumor necrosis factor superfamily cytokine production (GO:1903556)3.22029585
51metallo-sulfur cluster assembly (GO:0031163)3.18849207
52iron-sulfur cluster assembly (GO:0016226)3.18849207
53sulfur amino acid catabolic process (GO:0000098)3.15964536
54folic acid metabolic process (GO:0046655)3.14726340
55positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.12750623
56purine deoxyribonucleotide catabolic process (GO:0009155)3.11686019
57response to peptidoglycan (GO:0032494)3.09837773
58CD4-positive or CD8-positive, alpha-beta T cell lineage commitment (GO:0043369)3.07289315
59base-excision repair, AP site formation (GO:0006285)3.06623822
60sex determination (GO:0007530)3.05999674
61nucleotide salvage (GO:0043173)3.05864800
62sphingosine metabolic process (GO:0006670)3.04856134
63melanin metabolic process (GO:0006582)3.04378695
64cytochrome complex assembly (GO:0017004)2.97897298
65folic acid transport (GO:0015884)2.96843221
66sphingomyelin metabolic process (GO:0006684)2.96527095
67modulation by virus of host process (GO:0019054)2.94496488
68histone phosphorylation (GO:0016572)2.93478113
69peptidyl-histidine modification (GO:0018202)2.93455499
70nucleotide-sugar biosynthetic process (GO:0009226)2.92621486
71* purinergic nucleotide receptor signaling pathway (GO:0035590)2.86993758
72peristalsis (GO:0030432)2.85262443
73regulation of hydrogen peroxide metabolic process (GO:0010310)2.83001933
74respiratory chain complex IV assembly (GO:0008535)2.82925608
75positive thymic T cell selection (GO:0045059)2.80510152
76sialylation (GO:0097503)2.80111057
77cellular anion homeostasis (GO:0030002)2.78046665
78dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.75054522
79gonadal mesoderm development (GO:0007506)2.73698113
80RNA modification (GO:0009451)2.70923631
81regulation of phospholipid biosynthetic process (GO:0071071)2.68370006
82DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.67398413
83regulation of heat generation (GO:0031650)2.66588810
84negative regulation of interleukin-8 production (GO:0032717)2.66045196
85positive regulation of calcium-mediated signaling (GO:0050850)2.65980696
86regulation of tumor necrosis factor-mediated signaling pathway (GO:0010803)2.64000658
87water-soluble vitamin biosynthetic process (GO:0042364)2.62116062
88negative regulation of innate immune response (GO:0045824)2.61226510
89estrogen biosynthetic process (GO:0006703)2.60967234
90pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.60307814
91deoxyribonucleotide catabolic process (GO:0009264)2.60146154
92tolerance induction (GO:0002507)2.59325111
93cellular response to exogenous dsRNA (GO:0071360)2.59163916
94secondary metabolite biosynthetic process (GO:0044550)2.57415599
95tooth mineralization (GO:0034505)2.57018931
96positive regulation of defense response to virus by host (GO:0002230)2.55363836
97negative regulation of toll-like receptor signaling pathway (GO:0034122)2.54153049
98sphingoid metabolic process (GO:0046519)2.53774028
99termination of RNA polymerase III transcription (GO:0006386)2.53412327
100transcription elongation from RNA polymerase III promoter (GO:0006385)2.53412327

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1VDR_21846776_ChIP-Seq_THP-1_Human4.23132693
2* LXR_22292898_ChIP-Seq_THP-1_Human2.84179610
3TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse2.81674554
4* P68_20966046_ChIP-Seq_HELA_Human2.63496654
5XRN2_22483619_ChIP-Seq_HELA_Human2.55712083
6MAF_26560356_Chip-Seq_TH2_Human2.51222199
7SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.32341080
8CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human2.30821918
9* BCL6_27268052_Chip-Seq_Bcells_Human2.29605949
10VDR_24763502_ChIP-Seq_THP-1_Human2.23980663
11JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.23395033
12TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.22116852
13MYC_22102868_ChIP-Seq_BL_Human2.16778382
14* BCOR_27268052_Chip-Seq_Bcells_Human2.13507902
15TET1_21451524_ChIP-Seq_MESCs_Mouse2.12046472
16DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.07480649
17* MAF_26560356_Chip-Seq_TH1_Human2.02315652
18CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.00894624
19CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.97833225
20* E2F1_20622854_ChIP-Seq_HELA_Human1.95773664
21ELF1_20517297_ChIP-Seq_JURKAT_Human1.85060627
22* PHF8_20622854_ChIP-Seq_HELA_Human1.82378368
23ERG_21242973_ChIP-ChIP_JURKAT_Human1.77451126
24SRY_22984422_ChIP-ChIP_TESTIS_Rat1.74775393
25SA1_27219007_Chip-Seq_ERYTHROID_Human1.73025596
26* CTCF_27219007_Chip-Seq_Bcells_Human1.72282119
27IKZF1_21737484_ChIP-ChIP_HCT116_Human1.71913547
28* CTCF_27219007_Chip-Seq_ERYTHROID_Human1.71907395
29RARG_19884340_ChIP-ChIP_MEFs_Mouse1.70842888
30* RACK7_27058665_Chip-Seq_MCF-7_Human1.70712124
31KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.68491612
32SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.68035973
33* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.66954094
34HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.65338114
35RARB_24833708_ChIP-Seq_LIVER_Mouse1.65147890
36FOXP1_21924763_ChIP-Seq_HESCs_Human1.65069431
37E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.64182232
38* MYCN_27167114_Chip-Seq_NEUROBLASTOMA_Human1.62504917
39RARA_24833708_ChIP-Seq_LIVER_Mouse1.59908954
40EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.57896454
41* UTX_26944678_Chip-Seq_JUKART_Human1.56911181
42KDM2B_26808549_Chip-Seq_DND41_Human1.56427731
43SMC4_20622854_ChIP-Seq_HELA_Human1.54312756
44CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.51811150
45* CTCF_21964334_Chip-Seq_Bcells_Human1.51700314
46SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.50669697
47YY1_22570637_ChIP-Seq_MALME-3M_Human1.50510917
48SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.48438076
49RXRA_24833708_ChIP-Seq_LIVER_Mouse1.48211827
50ETS1_20019798_ChIP-Seq_JURKAT_Human1.47403901
51PU.1_20513432_ChIP-Seq_Bcells_Mouse1.45044932
52BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.44852000
53SPI1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.44129240
54ELK3_25401928_ChIP-Seq_HUVEC_Human1.44017167
55* CTCF_20526341_ChIP-Seq_ESCs_Human1.43578734
56DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.42674722
57CTCF_21964334_ChIP-Seq_BJAB-B_Human1.41958973
58DCP1A_22483619_ChIP-Seq_HELA_Human1.41186952
59PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.39568520
60* EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.37599847
61SA1_27219007_Chip-Seq_Bcells_Human1.37394844
62CTCF_26484167_Chip-Seq_Bcells_Mouse1.37199535
63GABP_19822575_ChIP-Seq_HepG2_Human1.35815375
64MYC_18358816_ChIP-ChIP_MESCs_Mouse1.34883905
65* RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.32990695
66IRF8_22096565_ChIP-ChIP_GC-B_Human1.32698493
67SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.29606066
68CIITA_25753668_ChIP-Seq_RAJI_Human1.28962892
69THAP11_20581084_ChIP-Seq_MESCs_Mouse1.28688735
70TCF7_22412390_ChIP-Seq_EML_Mouse1.28235767
71FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.26752492
72NOTCH1_21737748_ChIP-Seq_TLL_Human1.26247818
73CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.24561343
74TP63_19390658_ChIP-ChIP_HaCaT_Human1.23859096
75ETS1_21867929_ChIP-Seq_TH2_Mouse1.23685157
76FLI1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.23509940
77CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.22935377
78ERA_21632823_ChIP-Seq_H3396_Human1.22070289
79SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.20095941
80TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.19852036
81CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.19487118
82P300_27268052_Chip-Seq_Bcells_Human1.17846239
83NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.16559346
84CREB1_26743006_Chip-Seq_LNCaP_Human1.16218616
85RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.15708897
86IRF8_21731497_ChIP-ChIP_J774_Mouse1.15664481
87PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.15561249
88MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.14874712
89E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human1.14217226
90EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.13387622
91NCOR1_26117541_ChIP-Seq_K562_Human1.12101418
92TP53_22127205_ChIP-Seq_IMR90_Human1.11771074
93E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.08714138
94DNAJC2_21179169_ChIP-ChIP_NT2_Human1.07661762
95SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.06796300
96VDR_23849224_ChIP-Seq_CD4+_Human1.05579758
97UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.05069424
98RUNX1_22412390_ChIP-Seq_EML_Mouse1.04557763
99NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.01702567
100PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.00506122

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001986_abnormal_taste_sensitivity6.25126370
2MP0005171_absent_coat_pigmentation6.01319833
3MP0005174_abnormal_tail_pigmentation5.87470059
4MP0003136_yellow_coat_color5.27814801
5MP0005423_abnormal_somatic_nervous4.77069687
6MP0001188_hyperpigmentation3.31517563
7MP0005058_abnormal_lysosome_morphology2.61300271
8MP0000015_abnormal_ear_pigmentation2.49976702
9MP0001968_abnormal_touch/_nociception2.32382513
10MP0004381_abnormal_hair_follicle2.26925956
11MP0005409_darkened_coat_color2.26641235
12MP0003806_abnormal_nucleotide_metabolis2.10868652
13MP0001756_abnormal_urination2.04692053
14MP0005083_abnormal_biliary_tract1.99940012
15MP0008875_abnormal_xenobiotic_pharmacok1.97492792
16MP0003453_abnormal_keratinocyte_physiol1.84747726
17MP0001873_stomach_inflammation1.77798187
18MP0003303_peritoneal_inflammation1.69617647
19MP0001502_abnormal_circadian_rhythm1.69500836
20MP0002638_abnormal_pupillary_reflex1.65129882
21MP0003436_decreased_susceptibility_to1.61459821
22MP0003111_abnormal_nucleus_morphology1.58747270
23MP0002736_abnormal_nociception_after1.54769710
24MP0000685_abnormal_immune_system1.50015623
25MP0005671_abnormal_response_to1.48673016
26MP0009333_abnormal_splenocyte_physiolog1.46535447
27MP0002148_abnormal_hypersensitivity_rea1.46378533
28MP0003172_abnormal_lysosome_physiology1.40804425
29MP0002254_reproductive_system_inflammat1.38008376
30MP0000750_abnormal_muscle_regeneration1.36162764
31MP0000538_abnormal_urinary_bladder1.33222038
32MP0003693_abnormal_embryo_hatching1.26576294
33MP0009840_abnormal_foam_cell1.25927563
34MP0002723_abnormal_immune_serum1.20088106
35MP0001661_extended_life_span1.20057061
36MP0005332_abnormal_amino_acid1.20010419
37MP0002277_abnormal_respiratory_mucosa1.14131378
38MP0002452_abnormal_antigen_presenting1.13952431
39MP0005330_cardiomyopathy1.12478138
40MP0005025_abnormal_response_to1.12392723
41MP0001800_abnormal_humoral_immune1.11913965
42MP0004130_abnormal_muscle_cell1.11244222
43MP0000751_myopathy1.10956273
44MP0005365_abnormal_bile_salt1.10830821
45MP0005387_immune_system_phenotype1.08104024
46MP0001790_abnormal_immune_system1.08104024
47MP0009278_abnormal_bone_marrow1.06553371
48MP0003448_altered_tumor_morphology1.05545545
49MP0001835_abnormal_antigen_presentation1.04539111
50MP0006082_CNS_inflammation1.03005957
51MP0005584_abnormal_enzyme/coenzyme_acti1.02257912
52MP0005000_abnormal_immune_tolerance1.01132748
53MP0002419_abnormal_innate_immunity0.98807705
54MP0004019_abnormal_vitamin_homeostasis0.96905973
55MP0001819_abnormal_immune_cell0.96441495
56MP0000678_abnormal_parathyroid_gland0.96222132
57MP0000013_abnormal_adipose_tissue0.96101268
58MP0002420_abnormal_adaptive_immunity0.96041097
59MP0005084_abnormal_gallbladder_morpholo0.95861346
60MP0002735_abnormal_chemical_nociception0.95776433
61MP0001919_abnormal_reproductive_system0.91208756
62MP0004043_abnormal_pH_regulation0.90503484
63MP0005501_abnormal_skin_physiology0.89215453
64MP0006036_abnormal_mitochondrial_physio0.86612609
65MP0002933_joint_inflammation0.85961644
66MP0002160_abnormal_reproductive_system0.85935625
67MP0005410_abnormal_fertilization0.85728016
68MP0002405_respiratory_system_inflammati0.84242889
69MP0002398_abnormal_bone_marrow0.83611446
70MP0000716_abnormal_immune_system0.81934871
71MP0002019_abnormal_tumor_incidence0.80738864
72MP0002429_abnormal_blood_cell0.80401329
73MP0000003_abnormal_adipose_tissue0.79522271
74MP0001845_abnormal_inflammatory_respons0.79323965
75MP0008469_abnormal_protein_level0.79323313
76MP0001765_abnormal_ion_homeostasis0.78585624
77MP0010386_abnormal_urinary_bladder0.77414372
78MP0003763_abnormal_thymus_physiology0.75751170
79MP0004957_abnormal_blastocyst_morpholog0.75089320
80MP0003137_abnormal_impulse_conducting0.74961551
81MP0000470_abnormal_stomach_morphology0.73006391
82MP0000689_abnormal_spleen_morphology0.72968209
83MP0000367_abnormal_coat/_hair0.72909865
84MP0009643_abnormal_urine_homeostasis0.68827916
85MP0002722_abnormal_immune_system0.67017915
86MP0005076_abnormal_cell_differentiation0.66357597
87MP0005551_abnormal_eye_electrophysiolog0.66007165
88MP0009785_altered_susceptibility_to0.65003098
89MP0002138_abnormal_hepatobiliary_system0.64346074
90MP0000358_abnormal_cell_content/0.63810435
91MP0002136_abnormal_kidney_physiology0.63170150
92MP0010155_abnormal_intestine_physiology0.62766278
93MP0000703_abnormal_thymus_morphology0.62537883
94MP0009931_abnormal_skin_appearance0.62330685
95MP0001664_abnormal_digestion0.60690416
96MP0003077_abnormal_cell_cycle0.60024627
97MP0002075_abnormal_coat/hair_pigmentati0.58676789
98MP0000747_muscle_weakness0.58394346
99MP0001905_abnormal_dopamine_level0.57659996
100MP0005377_hearing/vestibular/ear_phenot0.57318867

Predicted human phenotypes

RankGene SetZ-score
1Rib fusion (HP:0000902)5.85117876
2Testicular atrophy (HP:0000029)5.66421243
3Rectal fistula (HP:0100590)4.94762475
4Rectovaginal fistula (HP:0000143)4.94762475
5Poikiloderma (HP:0001029)4.65298614
6Intestinal fistula (HP:0100819)4.61940328
7Vaginal fistula (HP:0004320)4.54018029
8Annular pancreas (HP:0001734)4.47671987
9Attenuation of retinal blood vessels (HP:0007843)4.35186313
10Thin bony cortex (HP:0002753)4.32150104
11Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)4.10604419
12Congenital stationary night blindness (HP:0007642)4.07988361
13Aplasia/Hypoplasia involving the carpal bones (HP:0006502)3.90324100
14Turricephaly (HP:0000262)3.85879258
15Dyschromatopsia (HP:0007641)3.84441021
16Facial hemangioma (HP:0000329)3.77882888
17Renal Fanconi syndrome (HP:0001994)3.65643739
18Ulnar bowing (HP:0003031)3.62297737
19Squamous cell carcinoma (HP:0002860)3.57591669
20Mesangial abnormality (HP:0001966)3.54452634
21Abnormality of the intrinsic pathway (HP:0010989)3.28829155
22Increased hepatocellular lipid droplets (HP:0006565)3.24649853
23Facial diplegia (HP:0001349)3.22352190
24Akinesia (HP:0002304)3.22349962
25Delayed epiphyseal ossification (HP:0002663)3.21871878
26Lipid accumulation in hepatocytes (HP:0006561)3.15467206
27Bony spicule pigmentary retinopathy (HP:0007737)3.15266890
28Popliteal pterygium (HP:0009756)3.09462160
29Patellar aplasia (HP:0006443)3.04951236
30Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.04891273
31Coronal craniosynostosis (HP:0004440)3.03197837
32Aplasia of the musculature (HP:0100854)2.99355370
33Joint hemorrhage (HP:0005261)2.94959067
34Abnormal albumin level (HP:0012116)2.94880074
35Hypoalbuminemia (HP:0003073)2.94880074
36Aplasia/Hypoplasia of the patella (HP:0006498)2.90388344
37Anteriorly placed anus (HP:0001545)2.89178181
38Abnormality of the costochondral junction (HP:0000919)2.85598459
39Hemorrhage of the eye (HP:0011885)2.84880106
40Prolonged partial thromboplastin time (HP:0003645)2.81905437
41Chorioretinal atrophy (HP:0000533)2.81113221
42Fetal akinesia sequence (HP:0001989)2.79512443
43Joint stiffness (HP:0001387)2.77436091
44Amniotic constriction ring (HP:0009775)2.76787417
45Abnormality of placental membranes (HP:0011409)2.76787417
46Increased intramyocellular lipid droplets (HP:0012240)2.71777943
47Absent thumb (HP:0009777)2.70614441
48Enlarged epiphyses (HP:0010580)2.67679260
49Increased muscle lipid content (HP:0009058)2.66917414
50Decreased electroretinogram (ERG) amplitude (HP:0000654)2.66509985
51Short chin (HP:0000331)2.61188386
52Birth length less than 3rd percentile (HP:0003561)2.53160288
53Male infertility (HP:0003251)2.51216732
54Hypophosphatemic rickets (HP:0004912)2.48710826
55Abnormal drinking behavior (HP:0030082)2.46090734
56Polydipsia (HP:0001959)2.46090734
57Flat occiput (HP:0005469)2.45630296
58Abnormality of glycolipid metabolism (HP:0010969)2.33855408
59Abnormality of liposaccharide metabolism (HP:0010968)2.33855408
60Abnormality of glycosphingolipid metabolism (HP:0004343)2.33855408
61Premature graying of hair (HP:0002216)2.33699318
62Exertional dyspnea (HP:0002875)2.28944332
63Basal cell carcinoma (HP:0002671)2.26884059
64Capillary hemangiomas (HP:0005306)2.25860601
65Choanal stenosis (HP:0000452)2.20886481
66Respiratory difficulties (HP:0002880)2.20736548
67Widely patent fontanelles and sutures (HP:0004492)2.20207075
68Bowed forearm bones (HP:0003956)2.19834781
69Bowing of the arm (HP:0006488)2.19834781
70Atrioventricular block (HP:0001678)2.16978664
71Pendular nystagmus (HP:0012043)2.16234626
72Decreased central vision (HP:0007663)2.13977545
73Choroideremia (HP:0001139)2.12044479
74Abnormality of polysaccharide metabolism (HP:0011012)2.08665680
75Abnormality of glycosaminoglycan metabolism (HP:0004371)2.08665680
76Abnormality of mucopolysaccharide metabolism (HP:0011020)2.08665680
77Abnormal number of erythroid precursors (HP:0012131)2.04964818
78Pustule (HP:0200039)2.04469997
79Reduced antithrombin III activity (HP:0001976)2.03590604
80Abnormality of renal resorption (HP:0011038)2.02150290
81Muscle fiber atrophy (HP:0100295)2.00177159
82Cheilitis (HP:0100825)1.99965258
83Hypoplasia of the pons (HP:0012110)1.99708858
84Type 2 muscle fiber atrophy (HP:0003554)1.98700760
85Increased cerebral lipofuscin (HP:0011813)1.98142244
86Breast hypoplasia (HP:0003187)1.97646651
87Recurrent cutaneous fungal infections (HP:0011370)1.96560428
88Chronic mucocutaneous candidiasis (HP:0002728)1.96560428
89Aplasia/Hypoplasia involving the musculature (HP:0001460)1.95840284
90Increased neuronal autofluorescent lipopigment (HP:0002074)1.95555994
91Zonular cataract (HP:0010920)1.91967610
92Myotonia (HP:0002486)1.90914072
93Metaphyseal irregularity (HP:0003025)1.89542520
94Urinary glycosaminoglycan excretion (HP:0003541)1.88656643
95Mucopolysacchariduria (HP:0008155)1.88656643
96Rectal prolapse (HP:0002035)1.87934347
97Dysostosis multiplex (HP:0000943)1.87842689
98Abnormal trabecular bone morphology (HP:0100671)1.86086778
99Polyuria (HP:0000103)1.84267540
100Abnormality of the pons (HP:0007361)1.83743568

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAPK157.01596193
2TLK14.31117015
3BLK3.50971041
4WNK43.27414962
5STK163.03180089
6TESK22.82986109
7SMG12.65884046
8GRK62.60816865
9NME22.38153067
10VRK22.28810599
11SIK21.89770326
12MAP4K11.85784979
13MUSK1.85452212
14ERN11.82066094
15TBK11.61163262
16IRAK21.54569272
17MAP2K31.54475341
18TRIB31.49926479
19TAF11.49918985
20IRAK31.47622808
21ACVR1B1.46372705
22IKBKB1.43776425
23ADRBK21.37958402
24MAP2K61.35790419
25ZAP701.35413663
26CDK41.33368983
27CSK1.30316645
28BCKDK1.22420501
29ZAK1.18230568
30IKBKE1.03999067
31MAPK111.02484263
32PRKD21.02058470
33CAMKK20.99383195
34IRAK40.97561176
35TXK0.97560670
36SIK10.95245041
37PDPK10.93441815
38MELK0.90966475
39MAPK120.89137521
40BUB10.88432229
41PIM20.87834165
42MAP3K110.87293184
43NUAK10.86218917
44SYK0.85609606
45MAP3K140.82063301
46TAOK20.80957296
47ADRBK10.79867537
48CCNB10.79246873
49CDK11A0.73887129
50ABL20.73166217
51RPS6KA60.72112371
52CDK150.71697283
53PRKD30.71063205
54RIPK40.69974433
55PRPF4B0.69748553
56DAPK20.68322973
57RPS6KC10.67114758
58RPS6KL10.67114758
59NEK20.66191038
60MATK0.66124707
61AURKA0.65583441
62TGFBR10.64786605
63LYN0.64627514
64CDK180.62245089
65RPS6KA20.61718031
66MAPKAPK50.60833053
67PDK20.60104002
68STK110.59136401
69CAMKK10.57063932
70DYRK1B0.57037416
71WNK10.54853683
72CDC42BPA0.54313541
73CHEK20.54296691
74TNK20.51320782
75ARAF0.50635328
76DAPK10.49015266
77BTK0.48093523
78HIPK20.47224400
79VRK10.46715124
80CHUK0.45856625
81PRKCQ0.45071124
82RPS6KA50.43394829
83CDK140.42234282
84CSNK1G30.40114079
85CDK60.40108312
86PRKD10.38439032
87TYK20.33982386
88MAPK80.33331885
89CSNK1D0.32535677
90DAPK30.32440390
91EEF2K0.31618861
92CAMK1D0.30503562
93ATR0.29883551
94BMX0.29738424
95JAK30.29606107
96DYRK20.28708567
97KIT0.28091202
98DYRK30.28034689
99MAP2K20.25946403
100FES0.25766570

Predicted pathways (KEGG)

RankGene SetZ-score
1Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006047.00711443
2Sulfur relay system_Homo sapiens_hsa041226.68614107
3Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001304.59566802
4Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006033.44843966
5Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005333.27665785
6Other glycan degradation_Homo sapiens_hsa005112.71788527
7Glycosaminoglycan degradation_Homo sapiens_hsa005312.64021349
8Fructose and mannose metabolism_Homo sapiens_hsa000512.28843558
9Lysosome_Homo sapiens_hsa041421.93706524
10Ribosome_Homo sapiens_hsa030101.93645144
11Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.92071003
12Sphingolipid metabolism_Homo sapiens_hsa006001.72736738
13Fanconi anemia pathway_Homo sapiens_hsa034601.59871535
14Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.59546985
15Intestinal immune network for IgA production_Homo sapiens_hsa046721.56970475
16RNA polymerase_Homo sapiens_hsa030201.56805508
17Primary immunodeficiency_Homo sapiens_hsa053401.56537658
18Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.50985212
19Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.48150083
20Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.23821898
21Oxidative phosphorylation_Homo sapiens_hsa001901.19411728
22Base excision repair_Homo sapiens_hsa034101.03033622
23Homologous recombination_Homo sapiens_hsa034401.02893500
24Vitamin digestion and absorption_Homo sapiens_hsa049771.01246492
25Allograft rejection_Homo sapiens_hsa053300.97874896
26NF-kappa B signaling pathway_Homo sapiens_hsa040640.96883486
27Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.94490006
28Pyrimidine metabolism_Homo sapiens_hsa002400.89165099
29RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.88776167
30* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.85755009
31Graft-versus-host disease_Homo sapiens_hsa053320.85710664
32Autoimmune thyroid disease_Homo sapiens_hsa053200.84927092
33Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.84741863
34Osteoclast differentiation_Homo sapiens_hsa043800.84264768
35Toll-like receptor signaling pathway_Homo sapiens_hsa046200.82498849
36Sulfur metabolism_Homo sapiens_hsa009200.80942237
37Staphylococcus aureus infection_Homo sapiens_hsa051500.78879520
38Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.78269669
39Asthma_Homo sapiens_hsa053100.78069536
40Hematopoietic cell lineage_Homo sapiens_hsa046400.76987058
41Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.75613110
42Hedgehog signaling pathway_Homo sapiens_hsa043400.74682834
43Parkinsons disease_Homo sapiens_hsa050120.70899364
44Tuberculosis_Homo sapiens_hsa051520.68972862
45NOD-like receptor signaling pathway_Homo sapiens_hsa046210.68189216
46Bladder cancer_Homo sapiens_hsa052190.67308514
47Rheumatoid arthritis_Homo sapiens_hsa053230.67179223
48Leishmaniasis_Homo sapiens_hsa051400.63726756
49B cell receptor signaling pathway_Homo sapiens_hsa046620.61147628
50Taste transduction_Homo sapiens_hsa047420.61112381
51Circadian rhythm_Homo sapiens_hsa047100.59547657
52Huntingtons disease_Homo sapiens_hsa050160.58009252
53Antigen processing and presentation_Homo sapiens_hsa046120.57914365
54Carbohydrate digestion and absorption_Homo sapiens_hsa049730.54885999
55Basal transcription factors_Homo sapiens_hsa030220.53031727
56Herpes simplex infection_Homo sapiens_hsa051680.49662532
57Type I diabetes mellitus_Homo sapiens_hsa049400.49310693
58Alzheimers disease_Homo sapiens_hsa050100.48064725
59Notch signaling pathway_Homo sapiens_hsa043300.44668799
60Epstein-Barr virus infection_Homo sapiens_hsa051690.43365843
61Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.42739990
62Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.40861551
63Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.40603605
64mTOR signaling pathway_Homo sapiens_hsa041500.39195496
65T cell receptor signaling pathway_Homo sapiens_hsa046600.38895136
66TNF signaling pathway_Homo sapiens_hsa046680.37139985
67Endocytosis_Homo sapiens_hsa041440.36140949
68Metabolic pathways_Homo sapiens_hsa011000.35346374
69Hepatitis C_Homo sapiens_hsa051600.35208773
70Collecting duct acid secretion_Homo sapiens_hsa049660.33206150
71Apoptosis_Homo sapiens_hsa042100.32934273
72Glycerophospholipid metabolism_Homo sapiens_hsa005640.31303061
73Inositol phosphate metabolism_Homo sapiens_hsa005620.31077164
74Pertussis_Homo sapiens_hsa051330.30004051
75Influenza A_Homo sapiens_hsa051640.29480317
76HTLV-I infection_Homo sapiens_hsa051660.29201394
77Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.28986484
78One carbon pool by folate_Homo sapiens_hsa006700.28408003
79DNA replication_Homo sapiens_hsa030300.28094624
80VEGF signaling pathway_Homo sapiens_hsa043700.27852473
81Purine metabolism_Homo sapiens_hsa002300.26294336
82Ovarian steroidogenesis_Homo sapiens_hsa049130.26122521
83Measles_Homo sapiens_hsa051620.25807441
84Toxoplasmosis_Homo sapiens_hsa051450.24980868
85Cyanoamino acid metabolism_Homo sapiens_hsa004600.24310974
86Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.24208333
87Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.21757544
88Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.21059018
89Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.20250703
90Glutathione metabolism_Homo sapiens_hsa004800.19811780
91Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.18227902
92Jak-STAT signaling pathway_Homo sapiens_hsa046300.17391931
93Basal cell carcinoma_Homo sapiens_hsa052170.17387543
94Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.17142079
95N-Glycan biosynthesis_Homo sapiens_hsa005100.17081542
96Acute myeloid leukemia_Homo sapiens_hsa052210.16794047
97Glycerolipid metabolism_Homo sapiens_hsa005610.16246194
98Mineral absorption_Homo sapiens_hsa049780.15790463
99Maturity onset diabetes of the young_Homo sapiens_hsa049500.15665161
100Pyruvate metabolism_Homo sapiens_hsa006200.15401961

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