PTPRQ

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





Description: This locus encodes a member of the type III receptor-like protein-tyrosine phosphatase family. The encoded protein catalyzes the dephosphorylation of phosphotyrosine and phosphatidylinositol and plays roles in cellular proliferation and differentiation. Mutations at this locus have been linked to autosomal recessive deafness. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neurotransmitter catabolic process (GO:0042135)9.05301807
2regulation of dendritic cell antigen processing and presentation (GO:0002604)8.43590839
3NIK/NF-kappaB signaling (GO:0038061)7.28815813
4substrate-independent telencephalic tangential interneuron migration (GO:0021843)6.24889776
5substrate-independent telencephalic tangential migration (GO:0021826)6.24889776
6oxygen transport (GO:0015671)6.15460598
7antigen processing and presentation of endogenous antigen (GO:0019883)6.14569876
8positive regulation of granulocyte chemotaxis (GO:0071624)5.41939058
9positive regulation of antigen processing and presentation (GO:0002579)5.39217395
10asymmetric protein localization (GO:0008105)5.19960248
11bundle of His cell to Purkinje myocyte communication (GO:0086069)5.18061670
12regulation of T-helper 1 cell differentiation (GO:0045625)5.03144075
13positive regulation of natural killer cell differentiation (GO:0032825)4.89737289
14regulation of antigen processing and presentation (GO:0002577)4.89243110
15myofibril assembly (GO:0030239)4.83757687
16muscle filament sliding (GO:0030049)4.83278496
17actin-myosin filament sliding (GO:0033275)4.83278496
18positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.66916789
19regulation of skeletal muscle contraction (GO:0014819)4.61092737
20sarcomere organization (GO:0045214)4.59305266
21actin-mediated cell contraction (GO:0070252)4.54963935
22cilium or flagellum-dependent cell motility (GO:0001539)4.39332519
23cellular response to vitamin D (GO:0071305)4.35051587
24regulation of calcineurin-NFAT signaling cascade (GO:0070884)4.33377610
25imidazole-containing compound metabolic process (GO:0052803)4.33296562
26positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)4.29935482
27response to muscle activity (GO:0014850)4.27618936
28regulation of natural killer cell differentiation (GO:0032823)4.24213482
29negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)4.22554524
30regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)4.20857625
31cardiac myofibril assembly (GO:0055003)4.16217285
32response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.12957496
33proline transport (GO:0015824)4.00692088
34cellular response to ATP (GO:0071318)3.98421852
35positive regulation of Cdc42 GTPase activity (GO:0043089)3.97797647
36positive regulation of DNA-templated transcription, initiation (GO:2000144)3.90817945
37positive regulation of T-helper 1 type immune response (GO:0002827)3.87609429
38cell adhesion mediated by integrin (GO:0033627)3.86245446
39hemidesmosome assembly (GO:0031581)3.85856011
40cellular response to vitamin (GO:0071295)3.82333629
41adhesion of symbiont to host cell (GO:0044650)3.81682670
42virion attachment to host cell (GO:0019062)3.81682670
43positive regulation of T-helper cell differentiation (GO:0045624)3.81229827
44regulation of relaxation of muscle (GO:1901077)3.79117546
45fibroblast migration (GO:0010761)3.77774577
46ganglion development (GO:0061548)3.70904944
47negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class 3.69518906
48regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.63703856
49skeletal muscle adaptation (GO:0043501)3.62697587
50renal absorption (GO:0070293)3.61935878
51single strand break repair (GO:0000012)3.61335195
52myoblast fusion (GO:0007520)3.58042378
53motile cilium assembly (GO:0044458)3.57060545
54erythrocyte maturation (GO:0043249)3.54377391
55regulation of Cdc42 GTPase activity (GO:0043088)3.54331275
56actomyosin structure organization (GO:0031032)3.47108252
57positive regulation of neutrophil migration (GO:1902624)3.45280912
58positive regulation of neutrophil chemotaxis (GO:0090023)3.45280912
59actin filament-based movement (GO:0030048)3.44041276
60myotube cell development (GO:0014904)3.43093484
61diaphragm development (GO:0060539)3.41938361
62axonal fasciculation (GO:0007413)3.40917891
63desmosome organization (GO:0002934)3.38908997
64regulation of granulocyte chemotaxis (GO:0071622)3.38370025
65positive regulation of monocyte chemotaxis (GO:0090026)3.35618950
66striated muscle atrophy (GO:0014891)3.35006596
67gas transport (GO:0015669)3.32246796
68response to inactivity (GO:0014854)3.32184508
69regulation of viral-induced cytoplasmic pattern recognition receptor signaling pathway (GO:0039531)3.31253328
70membrane tubulation (GO:0097320)3.29835815
71regulation of RIG-I signaling pathway (GO:0039535)3.29446540
72skeletal muscle fiber development (GO:0048741)3.27076260
73regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator 3.25869795
74positive regulation of heat generation (GO:0031652)3.24878076
75regulation of secondary heart field cardioblast proliferation (GO:0003266)3.23472306
76regulation of cardioblast proliferation (GO:0003264)3.23472306
77regulation of MHC class II biosynthetic process (GO:0045346)3.21627683
78dendritic cell differentiation (GO:0097028)3.21247942
79planar cell polarity pathway involved in neural tube closure (GO:0090179)3.19420974
80positive regulation of macrophage cytokine production (GO:0060907)3.18165648
81muscle cell cellular homeostasis (GO:0046716)3.17647939
82muscle atrophy (GO:0014889)3.17397364
83cilium movement (GO:0003341)3.16105489
84skeletal muscle organ development (GO:0060538)3.16095646
85collagen fibril organization (GO:0030199)3.14455515
86arginine catabolic process (GO:0006527)3.13242079
87regulation of establishment of planar polarity involved in neural tube closure (GO:0090178)3.11778967
88regulation of fever generation (GO:0031620)3.11096961
89aorta morphogenesis (GO:0035909)3.10173608
90kidney mesenchyme development (GO:0072074)3.10058193
91positive regulation of filopodium assembly (GO:0051491)3.07562170
92peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.06450868
93negative regulation of keratinocyte proliferation (GO:0010839)3.05863470
94myeloid dendritic cell differentiation (GO:0043011)3.05758179
95syncytium formation by plasma membrane fusion (GO:0000768)3.04545032
96positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.04262586
97regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO3.01016416
98skeletal muscle tissue development (GO:0007519)3.00845304
99sarcoplasmic reticulum calcium ion transport (GO:0070296)2.99341369
100syncytium formation (GO:0006949)2.98988071
101auditory receptor cell differentiation (GO:0042491)2.98235355
102peptidyl-lysine dimethylation (GO:0018027)2.97934108
103cardiac muscle hypertrophy (GO:0003300)2.97606378
104positive regulation of glycoprotein biosynthetic process (GO:0010560)2.97289452
105regulation of bile acid biosynthetic process (GO:0070857)2.96761568
106adhesion of symbiont to host (GO:0044406)2.95725591
107skin development (GO:0043588)2.94564807
108regulation of cell communication by electrical coupling (GO:0010649)2.91979182
109gap junction assembly (GO:0016264)2.90847968
110positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.89619069
111muscle cell fate commitment (GO:0042693)2.88595676
112muscle fiber development (GO:0048747)2.87313124
113regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.86861391
114ovulation from ovarian follicle (GO:0001542)2.86139219
115negative regulation of cytosolic calcium ion concentration (GO:0051481)2.85379764
116mesenchymal-epithelial cell signaling (GO:0060638)2.85203266
117striated muscle hypertrophy (GO:0014897)2.84864363
118antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.82960139
119striated muscle adaptation (GO:0014888)2.82218271
120regulation of transcription initiation from RNA polymerase II promoter (GO:0060260)2.81451785
121dentate gyrus development (GO:0021542)2.80894555
122negative regulation of necroptotic process (GO:0060546)2.80455006
123glomerular basement membrane development (GO:0032836)2.80233993
124regulation of cellular extravasation (GO:0002691)2.78106159
125ventricular system development (GO:0021591)2.76615184
126positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)2.76397889
127positive regulation of cardiac muscle hypertrophy (GO:0010613)2.76238325
128positive regulation of muscle hypertrophy (GO:0014742)2.76238325
129regulation of sarcomere organization (GO:0060297)2.75785759
130positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)2.75095395
131negative regulation of catenin import into nucleus (GO:0035414)2.73604562
132response to prostaglandin E (GO:0034695)2.73252177
133metanephric mesenchyme development (GO:0072075)2.72544914
134muscle contraction (GO:0006936)2.71458954
135regulation of T-helper 1 type immune response (GO:0002825)2.70819119
136negative regulation of fatty acid transport (GO:2000192)2.70574348
137axonemal dynein complex assembly (GO:0070286)2.70419778
138skeletal muscle tissue regeneration (GO:0043403)2.70378881
139regulation of phospholipase A2 activity (GO:0032429)2.70024409
140myelin maintenance (GO:0043217)2.69650408
141white fat cell differentiation (GO:0050872)2.69488877
142negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)2.68477660
143regulation of muscle hypertrophy (GO:0014743)2.68170903
144extracellular fibril organization (GO:0043206)2.68043872
145plasma membrane repair (GO:0001778)2.67912129
146protein localization to cell surface (GO:0034394)2.67733463
147negative regulation of complement activation (GO:0045916)2.66664985
148interkinetic nuclear migration (GO:0022027)2.64379132
149regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.64366643
150regulation of neutrophil chemotaxis (GO:0090022)2.64354038
151regulation of neutrophil migration (GO:1902622)2.64354038
152regulation of Golgi to plasma membrane protein transport (GO:0042996)2.64040707
153epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.62851377
154positive regulation of cholesterol efflux (GO:0010875)2.62065761
155glomerular visceral epithelial cell development (GO:0072015)2.62043094
156regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)2.61994144
157pericardium development (GO:0060039)2.60775493
158muscle system process (GO:0003012)2.60713798
159ovulation (GO:0030728)2.59914509
160neuron recognition (GO:0008038)2.59454856
161adult heart development (GO:0007512)2.58865864
162fucose catabolic process (GO:0019317)2.57606183
163L-fucose metabolic process (GO:0042354)2.57606183
164L-fucose catabolic process (GO:0042355)2.57606183
165striated muscle contraction (GO:0006941)2.57488033
166detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)2.55787159
167negative regulation of protein localization to cell surface (GO:2000009)2.55417572
168negative thymic T cell selection (GO:0045060)2.54068061
169coenzyme catabolic process (GO:0009109)2.53275055
170regulation of necroptotic process (GO:0060544)2.53205037
171establishment of planar polarity (GO:0001736)2.53120314
172establishment of tissue polarity (GO:0007164)2.53120314
173dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.53117954
174negative regulation of interleukin-10 production (GO:0032693)2.53060863
175regulation of cardiac muscle hypertrophy (GO:0010611)2.52720432
176muscle hypertrophy (GO:0014896)2.51030008
177sequestering of extracellular ligand from receptor (GO:0035581)2.50456168
178regulation of the force of heart contraction (GO:0002026)2.50063016
179relaxation of muscle (GO:0090075)2.47070546
180retina vasculature morphogenesis in camera-type eye (GO:0061299)2.46647097
181fatty acid transmembrane transport (GO:1902001)2.46352426
182regulation of myoblast differentiation (GO:0045661)2.45911737
183positive regulation of myoblast differentiation (GO:0045663)2.45078080
184regulation of hippo signaling (GO:0035330)2.44819350
185nucleus localization (GO:0051647)2.43478119
186regulation of muscle adaptation (GO:0043502)2.42438604
187skeletal muscle contraction (GO:0003009)2.41785289
188regulation of integrin-mediated signaling pathway (GO:2001044)2.40742328
189negative regulation of protein activation cascade (GO:2000258)2.37719120
190macroautophagy (GO:0016236)2.37612688
191cell migration involved in heart development (GO:0060973)2.36283388
192carnitine shuttle (GO:0006853)2.34966178
193lymphangiogenesis (GO:0001946)2.34212085
194muscle tissue development (GO:0060537)2.32248463
195relaxation of cardiac muscle (GO:0055119)2.31870621
196striated muscle tissue development (GO:0014706)2.30005675
197phospholipid translocation (GO:0045332)2.29315107
198lipid translocation (GO:0034204)2.29315107

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human4.66276319
2TRIM28_21343339_ChIP-Seq_HEK293_Human2.87009767
3EZH2_22144423_ChIP-Seq_EOC_Human2.84944388
4PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.77236755
5ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.73034579
6FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.47279710
7JARID2_20075857_ChIP-Seq_MESCs_Mouse2.13479270
8* EP300_21415370_ChIP-Seq_HL-1_Mouse2.09789970
9SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.06216689
10DROSHA_22980978_ChIP-Seq_HELA_Human2.02840315
11RNF2_18974828_ChIP-Seq_MESCs_Mouse2.02302922
12EZH2_18974828_ChIP-Seq_MESCs_Mouse2.02302922
13HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.01526888
14SUZ12_27294783_Chip-Seq_ESCs_Mouse1.98890787
15ESR1_20079471_ChIP-ChIP_T-47D_Human1.98234097
16SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.93610712
17JARID2_20064375_ChIP-Seq_MESCs_Mouse1.93435567
18SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.91233005
19BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.86494145
20SMAD4_21799915_ChIP-Seq_A2780_Human1.85707844
21POU3F2_20337985_ChIP-ChIP_501MEL_Human1.82223521
22SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.79836782
23GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.78769728
24SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.77803282
25SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.76240893
26SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.76135896
27EZH2_27304074_Chip-Seq_ESCs_Mouse1.74080983
28RNF2_27304074_Chip-Seq_ESCs_Mouse1.70160836
29RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.70155489
30EED_16625203_ChIP-ChIP_MESCs_Mouse1.65891688
31CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.64344143
32FOXO3_23340844_ChIP-Seq_DLD1_Human1.63530251
33MTF2_20144788_ChIP-Seq_MESCs_Mouse1.63393214
34* BRD4_25478319_ChIP-Seq_HGPS_Human1.61901819
35SMAD_19615063_ChIP-ChIP_OVARY_Human1.58989722
36* STAT3_23295773_ChIP-Seq_U87_Human1.56718308
37SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.54545977
38ESR2_21235772_ChIP-Seq_MCF-7_Human1.52500463
39NR3C1_21868756_ChIP-Seq_MCF10A_Human1.51768050
40RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.51763184
41* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.48155525
42EZH2_27294783_Chip-Seq_ESCs_Mouse1.48030770
43ARNT_22903824_ChIP-Seq_MCF-7_Human1.47944826
44TP53_18474530_ChIP-ChIP_U2OS_Human1.46728174
45ERG_21242973_ChIP-ChIP_JURKAT_Human1.46673599
46P300_19829295_ChIP-Seq_ESCs_Human1.46118406
47VDR_24787735_ChIP-Seq_THP-1_Human1.39785345
48GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.39383067
49TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.38990557
50POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.38990557
51AHR_22903824_ChIP-Seq_MCF-7_Human1.38973909
52FUS_26573619_Chip-Seq_HEK293_Human1.38712891
53FLI1_27457419_Chip-Seq_LIVER_Mouse1.38048814
54IGF1R_20145208_ChIP-Seq_DFB_Human1.37832088
55GBX2_23144817_ChIP-Seq_PC3_Human1.37177240
56EGR1_23403033_ChIP-Seq_LIVER_Mouse1.36726130
57TP53_20018659_ChIP-ChIP_R1E_Mouse1.36031682
58FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.33442861
59TCF4_23295773_ChIP-Seq_U87_Human1.31926247
60CJUN_26792858_Chip-Seq_BT549_Human1.31219957
61TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.30322390
62SUZ12_27294783_Chip-Seq_NPCs_Mouse1.30118001
63TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.30042381
64FOXM1_26456572_ChIP-Seq_MCF-7_Human1.29931496
65NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.29716973
66NR3C1_23031785_ChIP-Seq_PC12_Mouse1.28826191
67ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.28136695
68EZH2_27294783_Chip-Seq_NPCs_Mouse1.28001674
69ZNF274_21170338_ChIP-Seq_K562_Hela1.27984041
70ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.27207114
71PIAS1_25552417_ChIP-Seq_VCAP_Human1.26791233
72PCGF2_27294783_Chip-Seq_ESCs_Mouse1.26411863
73OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.25168681
74NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.24971647
75* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.24847860
76VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.24570855
77TOP2B_26459242_ChIP-Seq_MCF-7_Human1.23946931
78TP53_16413492_ChIP-PET_HCT116_Human1.22342677
79RING1B_27294783_Chip-Seq_NPCs_Mouse1.21174360
80TCF4_18268006_ChIP-ChIP_LS174T_Human1.20659189
81NANOG_18555785_Chip-Seq_ESCs_Mouse1.20593541
82PCGF2_27294783_Chip-Seq_NPCs_Mouse1.20286256
83SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.18656966
84RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.17932932
85PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.17367496
86TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.16728227
87CBX2_27304074_Chip-Seq_ESCs_Mouse1.16667914
88RING1B_27294783_Chip-Seq_ESCs_Mouse1.16648020
89ESR1_21235772_ChIP-Seq_MCF-7_Human1.16377180
90SOX2_21211035_ChIP-Seq_LN229_Gbm1.16092889
91MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.15836749
92NFE2_27457419_Chip-Seq_LIVER_Mouse1.15824724
93SOX9_24532713_ChIP-Seq_HFSC_Mouse1.15356278
94NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.14954845
95NRF2_20460467_ChIP-Seq_MEFs_Mouse1.14954845
96TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.14655874
97WT1_19549856_ChIP-ChIP_CCG9911_Human1.13101196
98TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.12834454
99EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.12659985
100GATA2_21666600_ChIP-Seq_HMVEC_Human1.12237366
101UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.11044291
102TAF15_26573619_Chip-Seq_HEK293_Human1.10505555
103CLOCK_20551151_ChIP-Seq_293T_Human1.10295755
104BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.09771308
105E2F1_18555785_Chip-Seq_ESCs_Mouse1.09720555
106* IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.09359472
107* CBP_20019798_ChIP-Seq_JUKART_Human1.09359472
108ER_23166858_ChIP-Seq_MCF-7_Human1.09265120
109EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.09079054
110PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.08740253
111TBL1_22424771_ChIP-Seq_293T_Human1.08170475
112HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.08150858
113SMAD3_21741376_ChIP-Seq_EPCs_Human1.08017764
114CDX2_19796622_ChIP-Seq_MESCs_Mouse1.07777535
115STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.06537317
116IKZF1_21737484_ChIP-ChIP_HCT116_Human1.04930052
117EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.04400668
118CDX2_22108803_ChIP-Seq_LS180_Human1.02971057
119LXR_22158963_ChIP-Seq_LIVER_Mouse1.02896034
120RXR_22108803_ChIP-Seq_LS180_Human1.02249008
121TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.01397174
122SMAD3_21741376_ChIP-Seq_HESCs_Human1.00698443
123LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.00343962
124KDM2B_26808549_Chip-Seq_REH_Human1.00016641
125P53_22387025_ChIP-Seq_ESCs_Mouse0.99258998
126PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.98665654
127CRX_20693478_ChIP-Seq_RETINA_Mouse0.98163678
128TCF4_22108803_ChIP-Seq_LS180_Human0.97987234
129* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.97024548
130PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.96885537
131SOX2_20726797_ChIP-Seq_SW620_Human0.96462910
132KLF5_20875108_ChIP-Seq_MESCs_Mouse0.95612972
133WT1_25993318_ChIP-Seq_PODOCYTE_Human0.95273333
134SMAD2_18955504_ChIP-ChIP_HaCaT_Human0.93741774
135SMAD3_18955504_ChIP-ChIP_HaCaT_Human0.93741774
136AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.92855100
137BCAT_22108803_ChIP-Seq_LS180_Human0.91003231
138STAT6_20620947_ChIP-Seq_CD4_POS_T_Human0.90445214
139TP63_23658742_ChIP-Seq_EP156T_Human0.88734674
140VDR_22108803_ChIP-Seq_LS180_Human0.88671267
141* P63_26484246_Chip-Seq_KERATINOCYTES_Human0.88368451
142CTBP2_25329375_ChIP-Seq_LNCAP_Human0.88025739
143WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.87932587
144* CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.87766106
145RARG_19884340_ChIP-ChIP_MEFs_Mouse0.86693863
146TBX20_22328084_ChIP-Seq_HEART_Mouse0.86453191
147TBX20_22080862_ChIP-Seq_HEART_Mouse0.86453191
148AR_25329375_ChIP-Seq_VCAP_Human0.86130747
149ZFP57_27257070_Chip-Seq_ESCs_Mouse0.86085405
150TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.85474297
151BMI1_23680149_ChIP-Seq_NPCS_Mouse0.85255114
152RUNX1_27514584_Chip-Seq_MCF-7_Human0.84626891
153CTNNB1_20460455_ChIP-Seq_HCT116_Human0.84465592
154KLF5_25053715_ChIP-Seq_YYC3_Human0.83528808
155KDM2B_26808549_Chip-Seq_K562_Human0.83401120
156IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.83019056
157NFIB_24661679_ChIP-Seq_LUNG_Mouse0.82617482
158AR_21572438_ChIP-Seq_LNCaP_Human0.81440062
159MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.81360477

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0001346_abnormal_lacrimal_gland5.68684727
2MP0001348_abnormal_lacrimal_gland5.51818262
3MP0008438_abnormal_cutaneous_collagen5.18082588
4MP0002876_abnormal_thyroid_physiology4.61070064
5MP0003950_abnormal_plasma_membrane4.18770702
6MP0000749_muscle_degeneration3.89956586
7MP0000685_abnormal_immune_system3.79297658
8MP0000751_myopathy3.41247346
9MP0005310_abnormal_salivary_gland3.27299157
10MP0001873_stomach_inflammation3.22539052
11MP0004145_abnormal_muscle_electrophysio3.20715483
12MP0005645_abnormal_hypothalamus_physiol3.20455753
13MP0004036_abnormal_muscle_relaxation2.86289144
14MP0004084_abnormal_cardiac_muscle2.84693881
15* MP0003879_abnormal_hair_cell2.80448988
16MP0001958_emphysema2.55116802
17MP0010368_abnormal_lymphatic_system2.53856767
18MP0003705_abnormal_hypodermis_morpholog2.44572395
19MP0003646_muscle_fatigue2.44039127
20MP0000013_abnormal_adipose_tissue2.40321884
21MP0004510_myositis2.39931405
22MP0003878_abnormal_ear_physiology2.25493146
23MP0005377_hearing/vestibular/ear_phenot2.25493146
24MP0001661_extended_life_span2.17432392
25MP0006082_CNS_inflammation2.14164727
26MP0009780_abnormal_chondrocyte_physiolo2.08840825
27MP0000747_muscle_weakness2.08397666
28MP0004087_abnormal_muscle_fiber2.07001459
29MP0002254_reproductive_system_inflammat12.2749004
30MP0000759_abnormal_skeletal_muscle1.99957143
31MP0005620_abnormal_muscle_contractility1.99225542
32MP0001835_abnormal_antigen_presentation1.97033774
33MP0004130_abnormal_muscle_cell1.94458629
34MP0002269_muscular_atrophy1.87471627
35MP0002138_abnormal_hepatobiliary_system1.80561133
36MP0002877_abnormal_melanocyte_morpholog1.76311230
37MP0005647_abnormal_sex_gland1.75067648
38MP0004215_abnormal_myocardial_fiber1.74289471
39MP0005670_abnormal_white_adipose1.66994273
40MP0005360_urolithiasis1.65457612
41MP0003868_abnormal_feces_composition1.60500999
42MP0002332_abnormal_exercise_endurance1.58431006
43* MP0001485_abnormal_pinna_reflex1.58011492
44MP0003279_aneurysm1.57679020
45MP0010386_abnormal_urinary_bladder1.55277603
46MP0010234_abnormal_vibrissa_follicle1.54734417
47MP0000613_abnormal_salivary_gland1.54564245
48MP0005369_muscle_phenotype1.53183355
49MP0009697_abnormal_copulation1.51963098
50MP0005595_abnormal_vascular_smooth1.48803018
51MP0002106_abnormal_muscle_physiology1.47368506
52MP0000750_abnormal_muscle_regeneration1.45962118
53MP0004233_abnormal_muscle_weight1.42675042
54MP0000383_abnormal_hair_follicle1.42242034
55MP0006054_spinal_hemorrhage1.41343879
56MP0010678_abnormal_skin_adnexa1.40751358
57MP0000003_abnormal_adipose_tissue1.40735753
58MP0005330_cardiomyopathy1.31180196
59MP0003045_fibrosis1.29546631
60MP0002277_abnormal_respiratory_mucosa1.26648178
61MP0000767_abnormal_smooth_muscle1.23841840
62MP0000579_abnormal_nail_morphology1.21380289
63MP0003252_abnormal_bile_duct1.19402288
64MP0003453_abnormal_keratinocyte_physiol1.18117431
65MP0002837_dystrophic_cardiac_calcinosis1.17909823
66MP0010352_gastrointestinal_tract_polyps1.15788965
67MP0005171_absent_coat_pigmentation1.14460379
68MP0002972_abnormal_cardiac_muscle1.10223506
69MP0009250_abnormal_appendicular_skeleto1.07663979
70MP0005623_abnormal_meninges_morphology1.07464261
71MP0005503_abnormal_tendon_morphology1.07046673
72MP0002295_abnormal_pulmonary_circulatio1.05289593
73MP0002971_abnormal_brown_adipose1.03889301
74MP0008775_abnormal_heart_ventricle1.03520637
75MP0005367_renal/urinary_system_phenotyp1.02922425
76MP0000516_abnormal_urinary_system1.02922425
77MP0005387_immune_system_phenotype1.02203798
78MP0001790_abnormal_immune_system1.02203798
79MP0000230_abnormal_systemic_arterial0.99994762
80MP0000470_abnormal_stomach_morphology0.99244036
81MP0001851_eye_inflammation0.98632351
82MP0005275_abnormal_skin_tensile0.98272877
83MP0006138_congestive_heart_failure0.98105710
84MP0000569_abnormal_digit_pigmentation0.96619405
85MP0002127_abnormal_cardiovascular_syste0.95140219
86MP0001542_abnormal_bone_strength0.94853788
87MP0010630_abnormal_cardiac_muscle0.93612198
88* MP0000026_abnormal_inner_ear0.92147597
89MP0004484_altered_response_of0.90533866
90MP0001849_ear_inflammation0.89163709
91MP0003385_abnormal_body_wall0.88984344
92MP0002128_abnormal_blood_circulation0.88184905
93MP0003566_abnormal_cell_adhesion0.87119370
94MP0004272_abnormal_basement_membrane0.85903782
95MP0005375_adipose_tissue_phenotype0.85001556
96MP0005671_abnormal_response_to0.83060595
97MP0000733_abnormal_muscle_development0.82963915
98MP0003300_gastrointestinal_ulcer0.82271411
99MP0005076_abnormal_cell_differentiation0.81539723
100MP0003828_pulmonary_edema0.81332102
101MP0008004_abnormal_stomach_pH0.81250608
102MP0004085_abnormal_heartbeat0.80406388
103MP0004185_abnormal_adipocyte_glucose0.79473313
104MP0004270_analgesia0.79079500
105MP0003959_abnormal_lean_body0.78915853
106MP0005023_abnormal_wound_healing0.77859297
107MP0005085_abnormal_gallbladder_physiolo0.77763936
108MP0005187_abnormal_penis_morphology0.77139142
109MP0009384_cardiac_valve_regurgitation0.76942238
110MP0003763_abnormal_thymus_physiology0.76454223
111MP0003091_abnormal_cell_migration0.75801976
112MP0005266_abnormal_metabolism0.74923728
113MP0002133_abnormal_respiratory_system0.74515871
114MP0005388_respiratory_system_phenotype0.74515871
115MP0001879_abnormal_lymphatic_vessel0.74070786
116MP0000566_synostosis0.73862103
117MP0004134_abnormal_chest_morphology0.72788194
118MP0005197_abnormal_uvea_morphology0.72274534
119MP0005508_abnormal_skeleton_morphology0.71900650
120MP0010030_abnormal_orbit_morphology0.71107932
121MP0001299_abnormal_eye_distance/0.71080864
122MP0005385_cardiovascular_system_phenoty0.70843066
123MP0001544_abnormal_cardiovascular_syste0.70843066
124MP0002735_abnormal_chemical_nociception0.69894448
125* MP0001963_abnormal_hearing_physiology0.68812866
126MP0003448_altered_tumor_morphology0.68690846
127MP0001881_abnormal_mammary_gland0.68397958
128MP0002928_abnormal_bile_duct0.67996279
129MP0000538_abnormal_urinary_bladder0.63782499
130MP0009115_abnormal_fat_cell0.61973391
131MP0004742_abnormal_vestibular_system0.61435311
132MP0004782_abnormal_surfactant_physiolog0.60876548
133MP0006276_abnormal_autonomic_nervous0.60696453
134MP0003806_abnormal_nucleotide_metabolis0.60498224
135MP0001756_abnormal_urination0.60021192
136MP0004858_abnormal_nervous_system0.59087839
137MP0003195_calcinosis0.58951485
138MP0005248_abnormal_Harderian_gland0.58680014
139MP0005332_abnormal_amino_acid0.58159006
140MP0005253_abnormal_eye_physiology0.56553552
141MP0002405_respiratory_system_inflammati0.54394635
142MP0002796_impaired_skin_barrier0.52425484
143MP0003638_abnormal_response/metabolism_0.50570425
144MP0002693_abnormal_pancreas_physiology0.50272375
145MP0010155_abnormal_intestine_physiology0.48501409
146MP0004947_skin_inflammation0.47957066
147MP0002168_other_aberrant_phenotype0.47697710
148MP0002160_abnormal_reproductive_system0.47636321
149MP0002282_abnormal_trachea_morphology0.47281857
150MP0000627_abnormal_mammary_gland0.46695001
151MP0000778_abnormal_nervous_system0.46207013
152MP0003755_abnormal_palate_morphology0.45664755
153MP0001502_abnormal_circadian_rhythm0.43791628
154MP0002060_abnormal_skin_morphology0.43475496
155MP0008569_lethality_at_weaning0.41725898
156MP0008789_abnormal_olfactory_epithelium0.40041972
157MP0003941_abnormal_skin_development0.39244154
158MP0002733_abnormal_thermal_nociception0.39143856
159MP0002009_preneoplasia0.38273697
160MP0002233_abnormal_nose_morphology0.38163313
161MP0002184_abnormal_innervation0.36928872
162MP0005000_abnormal_immune_tolerance0.36082947
163MP0000467_abnormal_esophagus_morphology0.35972216
164MP0002653_abnormal_ependyma_morphology0.35912240
165MP0002166_altered_tumor_susceptibility0.35678655
166MP0002148_abnormal_hypersensitivity_rea0.35110429
167MP0001486_abnormal_startle_reflex0.34496748
168MP0000534_abnormal_ureter_morphology0.34440448
169MP0002932_abnormal_joint_morphology0.34322842
170MP0001845_abnormal_inflammatory_respons0.34200713
171MP0002896_abnormal_bone_mineralization0.33750410
172MP0002970_abnormal_white_adipose0.33687760
173MP0002089_abnormal_postnatal_growth/wei0.33591744
174MP0001853_heart_inflammation0.33385192
175MP0003075_altered_response_to0.32879353
176MP0002108_abnormal_muscle_morphology0.32858532
177MP0003942_abnormal_urinary_system0.32700429
178MP0005448_abnormal_energy_balance0.32310593

Predicted human phenotypes

RankGene SetZ-score
1Recurrent cutaneous fungal infections (HP:0011370)7.09149204
2Chronic mucocutaneous candidiasis (HP:0002728)7.09149204
3Nemaline bodies (HP:0003798)7.06076051
4Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)7.01645390
5Muscle fiber inclusion bodies (HP:0100299)6.75245813
6Keratoconjunctivitis (HP:0001096)6.54322921
7Type 1 muscle fiber predominance (HP:0003803)6.05197136
8Aplasia/Hypoplasia of the spleen (HP:0010451)6.04392997
9Type 2 muscle fiber atrophy (HP:0003554)6.01840928
10Asplenia (HP:0001746)5.48983605
11Muscle fiber atrophy (HP:0100295)5.44027924
12Abnormality of calcium-phosphate metabolism (HP:0100530)5.19719615
13Type I diabetes mellitus (HP:0100651)5.18370233
14Right ventricular cardiomyopathy (HP:0011663)5.00174713
15Abnormality of the neuromuscular junction (HP:0003398)4.94400243
16Fatigable weakness (HP:0003473)4.94400243
17Aortic aneurysm (HP:0004942)4.84607158
18Respiratory insufficiency due to defective ciliary clearance (HP:0200073)4.66707970
19Abnormality of the gastric mucosa (HP:0004295)4.63200841
20Hypercortisolism (HP:0001578)4.54974299
21Lip pit (HP:0100267)4.37560164
22Abnormal auditory evoked potentials (HP:0006958)4.36285328
23Abnormality of proline metabolism (HP:0010907)4.34589679
24Hydroxyprolinuria (HP:0003080)4.34589679
25Weak cry (HP:0001612)4.29375149
26Exercise-induced myalgia (HP:0003738)4.22662514
27Aortic dissection (HP:0002647)4.01486248
28Tongue fasciculations (HP:0001308)3.99725137
29Hyporeflexia of lower limbs (HP:0002600)3.84172730
30Abnormality of the calf musculature (HP:0001430)3.82601350
31Unilateral renal agenesis (HP:0000122)3.78515974
32Eczematoid dermatitis (HP:0000976)3.74601996
33Muscle fibrillation (HP:0010546)3.67858190
34Easy fatigability (HP:0003388)3.59108965
35Hypoparathyroidism (HP:0000829)3.58386197
36Calf muscle hypertrophy (HP:0008981)3.55959677
37Protrusio acetabuli (HP:0003179)3.52655829
38Hypoplasia of dental enamel (HP:0006297)3.50752074
39Distal arthrogryposis (HP:0005684)3.49100728
40Upper limb muscle weakness (HP:0003484)3.46357665
41Bell-shaped thorax (HP:0001591)3.46244128
42Muscle hypertrophy of the lower extremities (HP:0008968)3.43453683
43Recurrent fungal infections (HP:0002841)3.42154863
44Recurrent skin infections (HP:0001581)3.35647633
45Neck muscle weakness (HP:0000467)3.32107226
46Onycholysis (HP:0001806)3.30529266
47Atrophic scars (HP:0001075)3.29772755
48Increased IgE level (HP:0003212)3.29616083
49Spinal rigidity (HP:0003306)3.27462799
50Increased variability in muscle fiber diameter (HP:0003557)3.24442925
51Milia (HP:0001056)3.21984423
52Plantar hyperkeratosis (HP:0007556)3.17402958
53Chronic hepatic failure (HP:0100626)3.12590171
54Abnormal ciliary motility (HP:0012262)3.11804498
55Focal motor seizures (HP:0011153)3.10138721
56Abnormal pupillary function (HP:0007686)3.03005624
57Round ear (HP:0100830)2.94550676
58Exercise-induced muscle cramps (HP:0003710)2.93485695
59Rimmed vacuoles (HP:0003805)2.92268512
60EMG: myopathic abnormalities (HP:0003458)2.90781620
61Decreased muscle mass (HP:0003199)2.90523817
62Abnormality of skeletal muscle fiber size (HP:0012084)2.88200677
63Soft skin (HP:0000977)2.81541703
64Difficulty running (HP:0009046)2.81312180
65Cholelithiasis (HP:0001081)2.80421667
66Abnormal respiratory motile cilium physiology (HP:0012261)2.75182930
67Nasal polyposis (HP:0100582)2.73222172
68Muscle fiber splitting (HP:0003555)2.70635530
69Hepatitis (HP:0012115)2.70302096
70Increased connective tissue (HP:0009025)2.67751294
71Palmoplantar hyperkeratosis (HP:0000972)2.67323849
72Pterygium (HP:0001059)2.67277134
73Fragile skin (HP:0001030)2.66620830
74Abnormality of the ischium (HP:0003174)2.66514749
75Tubular atrophy (HP:0000092)2.65664177
76Lipoatrophy (HP:0100578)2.57032166
77Interstitial pulmonary disease (HP:0006530)2.55987959
78Broad metatarsal (HP:0001783)2.54695873
79Keratitis (HP:0000491)2.54302596
80Pili torti (HP:0003777)2.51968133
81Abnormal gallbladder morphology (HP:0012437)2.47147737
82Hypoplasia of the iris (HP:0007676)2.46920535
83Palmar hyperkeratosis (HP:0010765)2.46233334
84Gowers sign (HP:0003391)2.43608848
85Decreased number of large peripheral myelinated nerve fibers (HP:0003387)2.43599840
86Vascular tortuosity (HP:0004948)2.40557647
87Mildly elevated creatine phosphokinase (HP:0008180)2.39944179
88Absence seizures (HP:0002121)2.38749750
89Hypoplastic ischia (HP:0003175)2.38695329
90Popliteal pterygium (HP:0009756)2.37962293
91Cerebral aneurysm (HP:0004944)2.37473798
92Fetal akinesia sequence (HP:0001989)2.37087350
93Centrally nucleated skeletal muscle fibers (HP:0003687)2.36734471
94Occipital encephalocele (HP:0002085)2.36040245
95Malignant hyperthermia (HP:0002047)2.34409730
96Bundle branch block (HP:0011710)2.33990498
97Scapular winging (HP:0003691)2.32369791
98Frequent falls (HP:0002359)2.31247044
99Visual hallucinations (HP:0002367)2.29494969
100Ulnar deviation of the wrist (HP:0003049)2.26162231
101Rhinitis (HP:0012384)2.24301808
102Slender build (HP:0001533)2.21259103
103Abnormality of glutamine family amino acid metabolism (HP:0010902)2.21031079
104Sudden death (HP:0001699)2.20358254
105Areflexia of lower limbs (HP:0002522)2.18415848
106Muscular dystrophy (HP:0003560)2.16279426
107Hypoalphalipoproteinemia (HP:0003233)2.15304090
108Rhabdomyolysis (HP:0003201)2.11404714
109Amniotic constriction ring (HP:0009775)2.10875529
110Abnormality of placental membranes (HP:0011409)2.10875529
111Epiphyseal dysplasia (HP:0002656)2.10170671
112Vertebral compression fractures (HP:0002953)2.08720995
113Abnormality of the nasal mucosa (HP:0000433)2.04346606
114Amelogenesis imperfecta (HP:0000705)2.03560631
115Decreased subcutaneous fat (HP:0001002)2.03203618
116Arterial tortuosity (HP:0005116)2.02654912
117Myoglobinuria (HP:0002913)2.02199161
118Distal lower limb muscle weakness (HP:0009053)2.01868163
119Colitis (HP:0002583)2.01704299
120Limited hip movement (HP:0008800)1.99793466
121Overgrowth (HP:0001548)1.97675774
122Bladder diverticulum (HP:0000015)1.96699568
123Hip contracture (HP:0003273)1.92391576
124Natal tooth (HP:0000695)1.92008338
125Mixed hearing impairment (HP:0000410)1.91620999
126Mesomelia (HP:0003027)1.91611803
127Gingivitis (HP:0000230)1.91305699
128Adrenal overactivity (HP:0002717)1.89261451
129Ridged nail (HP:0001807)1.88712219
130Mitral valve prolapse (HP:0001634)1.86667028
131Osteolytic defects of the phalanges of the hand (HP:0009771)1.86578443
132Osteolytic defects of the hand bones (HP:0009699)1.86578443
133Asymmetric septal hypertrophy (HP:0001670)1.85239248
134Abnormal delayed hypersensitivity skin test (HP:0002963)1.85178999
135Abnormality of the renal cortex (HP:0011035)1.84713532
136Pustule (HP:0200039)1.84658814
137Focal seizures (HP:0007359)1.82807120
138Reduced subcutaneous adipose tissue (HP:0003758)1.82450003
139Onion bulb formation (HP:0003383)1.82151788
140Ventricular tachycardia (HP:0004756)1.81814778
141Knee flexion contracture (HP:0006380)1.81117386
142Absent phalangeal crease (HP:0006109)1.81044366
143Bulbar palsy (HP:0001283)1.80917595
144Inflammation of the large intestine (HP:0002037)1.80424403
145Aortic regurgitation (HP:0001659)1.80192448
146Potter facies (HP:0002009)1.79848919
147Facial shape deformation (HP:0011334)1.79848919
148Septo-optic dysplasia (HP:0100842)1.79830542
149Hypergammaglobulinemia (HP:0010702)1.79773637
150Dilatation of the ascending aorta (HP:0005111)1.79534788
151Xerostomia (HP:0000217)1.79500871
152Abnormality of small intestinal villus morphology (HP:0011472)1.77792690
153Villous atrophy (HP:0011473)1.77792690
154Dilated cardiomyopathy (HP:0001644)1.77624410
155Aplasia cutis congenita (HP:0001057)1.77435517
156Mitral stenosis (HP:0001718)1.75867337
157Nonprogressive disorder (HP:0003680)1.75753344
158Wrist flexion contracture (HP:0001239)1.75422291
159Proximal amyotrophy (HP:0007126)1.74956570
160Steppage gait (HP:0003376)1.74039422
161Increased corneal curvature (HP:0100692)1.73576101
162Keratoconus (HP:0000563)1.73576101
163Abnormal hair laboratory examination (HP:0003328)1.72435322
164Dynein arm defect of respiratory motile cilia (HP:0012255)1.71895774
165Absent/shortened dynein arms (HP:0200106)1.71895774
166Tetraparesis (HP:0002273)1.71790960
167Atrial fibrillation (HP:0005110)1.71536567
168Wormian bones (HP:0002645)1.70965694
169Hyperkalemia (HP:0002153)1.70278104
170Abnormal biliary tract physiology (HP:0012439)1.69364468
171Premature rupture of membranes (HP:0001788)1.63542439
172Generalized muscle weakness (HP:0003324)1.63235297
173Hyperphosphatemia (HP:0002905)1.57995231
174Premature loss of primary teeth (HP:0006323)1.56169850
175Nail dystrophy (HP:0008404)1.56081697
176Trismus (HP:0000211)1.54399045
177Ureteral stenosis (HP:0000071)1.53356578
178Shallow orbits (HP:0000586)1.52617687
179Gastrointestinal inflammation (HP:0004386)1.52144703
180Elevated circulating parathyroid hormone (PTH) level (HP:0003165)1.50469591
181Dialeptic seizures (HP:0011146)1.50379092
182Hyperglycemia (HP:0003074)1.49572546
183Hypoplasia of the uterus (HP:0000013)1.48566004
184Myopathic facies (HP:0002058)1.48484184
185Truncus arteriosus (HP:0001660)1.47637662
186Fibular aplasia (HP:0002990)1.46860532
187Short nail (HP:0001799)1.46497944
188Hematochezia (HP:0002573)1.45715864
189Esophageal atresia (HP:0002032)1.43261755
190Neurofibrillary tangles (HP:0002185)1.39396984

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN7.50071858
2EPHB15.04803722
3MAP3K144.68067187
4EPHA34.48868387
5MUSK4.17382137
6FGFR43.59679199
7DYRK1B3.29411753
8MYLK3.26502273
9NME12.95104665
10PINK12.94752974
11DYRK32.91430791
12DDR22.85096439
13EPHA22.67754610
14STK38L2.21080985
15FGFR32.20303849
16ERBB32.19405990
17NEK92.14926332
18RIPK12.11207650
19MAP3K122.11105538
20PHKG12.10202808
21PHKG22.10202808
22FER1.94650996
23FRK1.83157785
24FGFR21.82908113
25CHUK1.73482316
26BCR1.69898403
27MET1.66298796
28MAP3K131.65334324
29MAPK151.63034024
30LIMK11.59775483
31TGFBR21.58366836
32PTK61.51533490
33DAPK21.50828599
34CDK81.50728106
35CDC42BPA1.45530821
36NLK1.38024998
37SIK31.36263270
38PTK21.35160795
39MAP3K71.33602158
40PAK31.32413118
41IRAK11.30398013
42STK381.29964028
43PDGFRA1.29230486
44BMPR1B1.26827779
45PIK3CA1.22920857
46STK31.18280884
47ROCK11.11646100
48LATS11.09953201
49SGK21.06871081
50GRK51.06346198
51PIK3CG1.05390273
52TYRO31.05359644
53MST41.04016691
54JAK10.98671262
55TBK10.96299645
56TGFBR10.95373923
57TIE10.95040730
58MOS0.94937781
59JAK30.92994705
60AKT30.89274832
61IKBKB0.88959681
62TYK20.88114866
63MAPK120.88058471
64ERBB20.87297296
65SGK30.85907179
66EPHB20.85789161
67IRAK40.85562703
68ITK0.85535859
69MARK30.79961644
70PAK60.79390572
71DMPK0.79231692
72MAP3K100.77399374
73PRKAA10.77193541
74CAMK2G0.75968419
75MAPK70.74793044
76NTRK20.72332652
77SGK2230.71641648
78SGK4940.71641648
79ILK0.70666648
80EEF2K0.70225102
81MTOR0.67683593
82WNK10.66623546
83BMPR20.66372310
84CAMK40.64838205
85JAK20.63778406
86MELK0.63767744
87TTN0.62887232
88ROCK20.62535867
89BTK0.62409403
90PRKG10.60144970
91TESK10.59172758
92CAMK2D0.57536017
93ADRBK10.57502636
94PRKG20.57462318
95CCNB10.56793454
96PAK20.56200802
97MAPKAPK50.54454979
98PKN20.54205748
99INSRR0.53655361
100RET0.53501855
101GRK70.53062211
102PKN10.52705330
103MAPKAPK30.52285281
104PRKD20.51464990
105LRRK20.51280591
106DYRK1A0.50112362
107DYRK20.49225954
108LATS20.48980950
109EIF2AK20.48607987
110AKT20.47588233
111CDK90.47455699
112BMX0.46185654
113KSR10.46088086
114IKBKE0.46030482
115OXSR10.45070284
116PTK2B0.44915216
117RPS6KB10.44394085
118STK100.43277794
119MARK10.43220552
120MKNK10.43037970
121TAOK10.42571823
122TRIB30.41332900
123NTRK10.41168307
124CAMK10.40856375
125PRKD30.40711374
126PRKDC0.39774069
127CAMK2B0.39716468
128PDK20.39364119
129MAP3K10.38251669
130SRC0.38005320
131TLK10.36872091
132PRKAA20.36254644
133CAMK1G0.36239264
134TRPM70.35973646
135STK110.35953394
136MAP3K60.35460469
137PDGFRB0.35094611
138MATK0.34670362
139PRKACB0.34300061
140FLT30.34235856
141STK390.33152466
142CAMK2A0.32884093
143PRKCQ0.32770962
144MAP2K40.31833184
145DAPK30.31465706
146ZAK0.31309150
147SCYL20.30220329
148PRKD10.30137040
149CLK10.29370328
150PRKCE0.28611875
151RPS6KA30.28536137
152GSK3A0.27959471
153WNK30.27229102
154ERN10.26864352
155RPS6KA20.26803262
156MAPKAPK20.26462528
157MAPK40.26149293
158MAP2K10.25074924
159SYK0.24856665
160LMTK20.24717404
161SIK10.24636327
162EGFR0.24440909
163CAMK1D0.23832360
164CDK180.23579853
165ALK0.23525010
166HIPK20.22127540

Predicted pathways (KEGG)

RankGene SetZ-score
1Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004004.87182940
2Cyanoamino acid metabolism_Homo sapiens_hsa004603.22618783
3Histidine metabolism_Homo sapiens_hsa003402.97041781
4Primary bile acid biosynthesis_Homo sapiens_hsa001202.61237657
5Primary immunodeficiency_Homo sapiens_hsa053402.54442992
6Antigen processing and presentation_Homo sapiens_hsa046122.53669380
7Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005342.33135204
8Intestinal immune network for IgA production_Homo sapiens_hsa046722.27118175
9NF-kappa B signaling pathway_Homo sapiens_hsa040642.25675223
10Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.21905741
11Phenylalanine metabolism_Homo sapiens_hsa003602.08601451
12Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.03601456
13Circadian rhythm_Homo sapiens_hsa047101.92499593
14Complement and coagulation cascades_Homo sapiens_hsa046101.92018383
15Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.90184149
16Tryptophan metabolism_Homo sapiens_hsa003801.88770812
17Steroid hormone biosynthesis_Homo sapiens_hsa001401.82427517
18alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.79533441
19Leishmaniasis_Homo sapiens_hsa051401.77641714
20Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.77420563
21ABC transporters_Homo sapiens_hsa020101.75817171
22Linoleic acid metabolism_Homo sapiens_hsa005911.72907638
23Small cell lung cancer_Homo sapiens_hsa052221.70113267
24Vascular smooth muscle contraction_Homo sapiens_hsa042701.66273878
25Toxoplasmosis_Homo sapiens_hsa051451.62984053
26Retinol metabolism_Homo sapiens_hsa008301.60858594
27Fatty acid degradation_Homo sapiens_hsa000711.59013951
28Chemical carcinogenesis_Homo sapiens_hsa052041.49053003
29PPAR signaling pathway_Homo sapiens_hsa033201.48914925
30Propanoate metabolism_Homo sapiens_hsa006401.45656799
31Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.45271031
32ECM-receptor interaction_Homo sapiens_hsa045121.39506793
33Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.39068512
34cGMP-PKG signaling pathway_Homo sapiens_hsa040221.37590946
35Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.36497608
36TNF signaling pathway_Homo sapiens_hsa046681.34211688
37Protein digestion and absorption_Homo sapiens_hsa049741.30551927
38Lysine degradation_Homo sapiens_hsa003101.30271924
39NOD-like receptor signaling pathway_Homo sapiens_hsa046211.30203353
40Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.25733520
41Butanoate metabolism_Homo sapiens_hsa006501.25664245
42African trypanosomiasis_Homo sapiens_hsa051431.25611069
43Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.24439935
44Bile secretion_Homo sapiens_hsa049761.24401269
45Hippo signaling pathway_Homo sapiens_hsa043901.23729578
46Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.23567889
47Adherens junction_Homo sapiens_hsa045201.20904711
48Osteoclast differentiation_Homo sapiens_hsa043801.18781663
49Pentose and glucuronate interconversions_Homo sapiens_hsa000401.17433028
50Arachidonic acid metabolism_Homo sapiens_hsa005901.14932861
51Starch and sucrose metabolism_Homo sapiens_hsa005001.14076289
52Oxytocin signaling pathway_Homo sapiens_hsa049211.13948201
53beta-Alanine metabolism_Homo sapiens_hsa004101.13530626
54Leukocyte transendothelial migration_Homo sapiens_hsa046701.10209349
55Systemic lupus erythematosus_Homo sapiens_hsa053221.09725892
56Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.07686771
57Renin secretion_Homo sapiens_hsa049241.06615484
58Focal adhesion_Homo sapiens_hsa045101.05393032
59Axon guidance_Homo sapiens_hsa043601.03595525
60Allograft rejection_Homo sapiens_hsa053301.01343636
61Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.01245819
62Hedgehog signaling pathway_Homo sapiens_hsa043401.00586848
63Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.98352934
64Basal cell carcinoma_Homo sapiens_hsa052170.98202090
65Tight junction_Homo sapiens_hsa045300.97466239
66Amoebiasis_Homo sapiens_hsa051460.95718093
67Ether lipid metabolism_Homo sapiens_hsa005650.94783590
68Glucagon signaling pathway_Homo sapiens_hsa049220.94134230
69Insulin resistance_Homo sapiens_hsa049310.92924947
70Viral myocarditis_Homo sapiens_hsa054160.90424491
71Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.89288593
72Pancreatic cancer_Homo sapiens_hsa052120.88246398
73Renin-angiotensin system_Homo sapiens_hsa046140.88188614
74Gastric acid secretion_Homo sapiens_hsa049710.85887370
75Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.84544542
76Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.83203380
77Bladder cancer_Homo sapiens_hsa052190.82278982
78Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.81725099
79Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.81257547
80Platelet activation_Homo sapiens_hsa046110.80922025
81One carbon pool by folate_Homo sapiens_hsa006700.79848430
82Alcoholism_Homo sapiens_hsa050340.79163299
83Pathways in cancer_Homo sapiens_hsa052000.78835600
84Arginine and proline metabolism_Homo sapiens_hsa003300.78658295
85Asthma_Homo sapiens_hsa053100.77918971
86Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.77582096
87Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.77491889
88Proteoglycans in cancer_Homo sapiens_hsa052050.75717358
89Gap junction_Homo sapiens_hsa045400.75319756
90Jak-STAT signaling pathway_Homo sapiens_hsa046300.74899412
91Apoptosis_Homo sapiens_hsa042100.74644593
92Vitamin digestion and absorption_Homo sapiens_hsa049770.74148296
93Prolactin signaling pathway_Homo sapiens_hsa049170.74022267
94Chemokine signaling pathway_Homo sapiens_hsa040620.73985915
95MicroRNAs in cancer_Homo sapiens_hsa052060.73353459
96Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.73164028
97RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.72961489
98Autoimmune thyroid disease_Homo sapiens_hsa053200.72719310
99Dorso-ventral axis formation_Homo sapiens_hsa043200.72690612
100AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.72558984
101AMPK signaling pathway_Homo sapiens_hsa041520.72396144
102Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.69297087
103Pyruvate metabolism_Homo sapiens_hsa006200.68605919
104Insulin signaling pathway_Homo sapiens_hsa049100.67954922
105Melanoma_Homo sapiens_hsa052180.66809771
106Cocaine addiction_Homo sapiens_hsa050300.66786034
107Maturity onset diabetes of the young_Homo sapiens_hsa049500.66781680
108Hepatitis C_Homo sapiens_hsa051600.65574540
109p53 signaling pathway_Homo sapiens_hsa041150.65072223
110Dilated cardiomyopathy_Homo sapiens_hsa054140.64816472
111Arginine biosynthesis_Homo sapiens_hsa002200.64791070
112Adipocytokine signaling pathway_Homo sapiens_hsa049200.64610361
113Toll-like receptor signaling pathway_Homo sapiens_hsa046200.64348414
114Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.64123929
115HTLV-I infection_Homo sapiens_hsa051660.63823180
116Peroxisome_Homo sapiens_hsa041460.62493004
117Amphetamine addiction_Homo sapiens_hsa050310.62349467
118VEGF signaling pathway_Homo sapiens_hsa043700.62169381
119Glycerolipid metabolism_Homo sapiens_hsa005610.61992092
120Circadian entrainment_Homo sapiens_hsa047130.61976557
121MAPK signaling pathway_Homo sapiens_hsa040100.61809080
122Tyrosine metabolism_Homo sapiens_hsa003500.61242746
123Tuberculosis_Homo sapiens_hsa051520.59958197
124Regulation of actin cytoskeleton_Homo sapiens_hsa048100.59025103
125Sulfur metabolism_Homo sapiens_hsa009200.58425833
126Ovarian steroidogenesis_Homo sapiens_hsa049130.58248612
127Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.58212640
128Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.58047297
129GABAergic synapse_Homo sapiens_hsa047270.57853280
130Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.56831459
131Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.55046107
132Cardiac muscle contraction_Homo sapiens_hsa042600.55010348
133Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.54678409
134Ras signaling pathway_Homo sapiens_hsa040140.54567402
135Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.53080256
136Nitrogen metabolism_Homo sapiens_hsa009100.51132972
137Fatty acid biosynthesis_Homo sapiens_hsa000610.51057012
138Mineral absorption_Homo sapiens_hsa049780.49523854
139TGF-beta signaling pathway_Homo sapiens_hsa043500.48830696
140Serotonergic synapse_Homo sapiens_hsa047260.47292701
141Rap1 signaling pathway_Homo sapiens_hsa040150.46703379
142cAMP signaling pathway_Homo sapiens_hsa040240.45672635
143Choline metabolism in cancer_Homo sapiens_hsa052310.45051164
144Longevity regulating pathway - mammal_Homo sapiens_hsa042110.44045996
145GnRH signaling pathway_Homo sapiens_hsa049120.43995983
146Olfactory transduction_Homo sapiens_hsa047400.42964216
147Acute myeloid leukemia_Homo sapiens_hsa052210.42584795
148Aldosterone synthesis and secretion_Homo sapiens_hsa049250.42487180
149Nicotine addiction_Homo sapiens_hsa050330.42131126
150B cell receptor signaling pathway_Homo sapiens_hsa046620.42123703
151Influenza A_Homo sapiens_hsa051640.40979931
152Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.40222677
153Hepatitis B_Homo sapiens_hsa051610.39400306
154Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.38473424
155Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.38180158
156Phospholipase D signaling pathway_Homo sapiens_hsa040720.37174392
157Glutamatergic synapse_Homo sapiens_hsa047240.36799484
158Rheumatoid arthritis_Homo sapiens_hsa053230.36624376
159Pertussis_Homo sapiens_hsa051330.36583898
160Sphingolipid signaling pathway_Homo sapiens_hsa040710.36559150
161Calcium signaling pathway_Homo sapiens_hsa040200.36338337
162PI3K-Akt signaling pathway_Homo sapiens_hsa041510.36120578
163Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.36089102
164Salivary secretion_Homo sapiens_hsa049700.34477525
165Malaria_Homo sapiens_hsa051440.33899305
166Thyroid hormone synthesis_Homo sapiens_hsa049180.33587359
167Fatty acid metabolism_Homo sapiens_hsa012120.32836755
168Pancreatic secretion_Homo sapiens_hsa049720.31664765
169Thyroid hormone signaling pathway_Homo sapiens_hsa049190.31184165

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