AIRE

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





Description: This gene encodes a transcriptional regulator that forms nuclear bodies and interacts with the transcriptional coactivator CREB binding protein. The encoded protein plays an important role in immunity by regulating the expression of autoantigens and negative selection of autoreactive T-cells in the thymus. Mutations in this gene cause the rare autosomal-recessive systemic autoimmune disease termed autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of dendritic cell antigen processing and presentation (GO:0002604)9.25401687
2antigen processing and presentation of endogenous antigen (GO:0019883)8.72779147
3oxygen transport (GO:0015671)8.60346922
4NIK/NF-kappaB signaling (GO:0038061)8.57246602
5neurotransmitter catabolic process (GO:0042135)7.98913579
6imidazole-containing compound metabolic process (GO:0052803)7.41638687
7positive regulation of granulocyte chemotaxis (GO:0071624)6.99891724
8substrate-independent telencephalic tangential interneuron migration (GO:0021843)6.79151290
9substrate-independent telencephalic tangential migration (GO:0021826)6.79151290
10positive regulation of antigen processing and presentation (GO:0002579)6.75138289
11regulation of antigen processing and presentation (GO:0002577)5.66589386
12DNA deamination (GO:0045006)5.45541162
13regulation of T-helper 1 cell differentiation (GO:0045625)5.44122159
14cellular response to ATP (GO:0071318)5.43165394
15positive regulation of Cdc42 GTPase activity (GO:0043089)5.40399912
16negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class 5.08507459
17protein import into peroxisome matrix (GO:0016558)5.06199607
18bundle of His cell to Purkinje myocyte communication (GO:0086069)5.02057945
19regulation of bile acid biosynthetic process (GO:0070857)5.01209011
20regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)4.91836413
21maturation of 5.8S rRNA (GO:0000460)4.89384459
22negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)4.79361876
23gas transport (GO:0015669)4.74445712
24regulation of MHC class II biosynthetic process (GO:0045346)4.67492969
25negative regulation of protein oligomerization (GO:0032460)4.67438761
26positive regulation of monocyte chemotaxis (GO:0090026)4.67436864
27regulation of Cdc42 GTPase activity (GO:0043088)4.65406642
28positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)4.65229996
29nucleotide transmembrane transport (GO:1901679)4.56406563
30positive regulation of T-helper cell differentiation (GO:0045624)4.50772833
31regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator 4.49679433
32positive regulation of T-helper 1 type immune response (GO:0002827)4.48423800
33behavioral response to nicotine (GO:0035095)4.40414051
34positive regulation of cholesterol efflux (GO:0010875)4.35577867
35positive regulation of neutrophil chemotaxis (GO:0090023)4.33319100
36positive regulation of neutrophil migration (GO:1902624)4.33319100
37asymmetric protein localization (GO:0008105)4.30652382
38glycerophospholipid catabolic process (GO:0046475)4.25598450
39response to pheromone (GO:0019236)4.18715617
40protein-cofactor linkage (GO:0018065)4.17752799
41regulation of granulocyte chemotaxis (GO:0071622)4.17460594
42regulation of helicase activity (GO:0051095)4.16768864
43single strand break repair (GO:0000012)4.13709816
44positive regulation of natural killer cell differentiation (GO:0032825)4.09122356
45negative regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902254)4.07564851
46proline transport (GO:0015824)4.05769970
47regulation of natural killer cell differentiation (GO:0032823)4.05572757
48positive regulation of DNA-templated transcription, initiation (GO:2000144)4.04460634
49adhesion of symbiont to host cell (GO:0044650)4.00670585
50virion attachment to host cell (GO:0019062)4.00670585
51membrane tubulation (GO:0097320)3.98147143
52positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)3.94494584
53regulation of cellular extravasation (GO:0002691)3.94402226
54positive regulation of sterol transport (GO:0032373)3.93515729
55positive regulation of cholesterol transport (GO:0032376)3.93515729
56antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.85761209
57antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.85761209
58diaphragm development (GO:0060539)3.84418554
59fatty acid homeostasis (GO:0055089)3.82658261
60tongue development (GO:0043586)3.82174454
61myeloid dendritic cell differentiation (GO:0043011)3.78222566
62negative regulation of fatty acid biosynthetic process (GO:0045717)3.78039354
63detection of light stimulus involved in sensory perception (GO:0050962)3.71573610
64detection of light stimulus involved in visual perception (GO:0050908)3.71573610
65adaptation of signaling pathway (GO:0023058)3.68502399
66dendritic cell differentiation (GO:0097028)3.68482258
67rRNA catabolic process (GO:0016075)3.66864776
68protein K11-linked deubiquitination (GO:0035871)3.63687113
69regulation of activation of Janus kinase activity (GO:0010533)3.61408122
70regulation of lipoprotein particle clearance (GO:0010984)3.52780000
71detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)3.51992534
72negative thymic T cell selection (GO:0045060)3.51810917
73positive regulation of heat generation (GO:0031652)3.50418790
74water-soluble vitamin biosynthetic process (GO:0042364)3.47922209
75negative regulation of telomere maintenance (GO:0032205)3.47452384
76axoneme assembly (GO:0035082)3.46150444
77positive regulation of receptor biosynthetic process (GO:0010870)3.45178938
78tryptophan catabolic process (GO:0006569)3.44480289
79indole-containing compound catabolic process (GO:0042436)3.44480289
80indolalkylamine catabolic process (GO:0046218)3.44480289
81regulation of fever generation (GO:0031620)3.42889192
82platelet dense granule organization (GO:0060155)3.40310339
83renal absorption (GO:0070293)3.39803744
84skeletal muscle organ development (GO:0060538)3.39323380
85regulation of granulocyte macrophage colony-stimulating factor production (GO:0032645)3.37768191
86regulation of intrinsic apoptotic signaling pathway by p53 class mediator (GO:1902253)3.37372323
87protein localization to peroxisome (GO:0072662)3.36890423
88protein targeting to peroxisome (GO:0006625)3.36890423
89establishment of protein localization to peroxisome (GO:0072663)3.36890423
90positive regulation of macrophage cytokine production (GO:0060907)3.33433422
91indolalkylamine metabolic process (GO:0006586)3.29610043
92protein polyglutamylation (GO:0018095)3.29189395
93germinal center formation (GO:0002467)3.28186566
94regulation of Golgi to plasma membrane protein transport (GO:0042996)3.28005569
95pyrimidine dimer repair (GO:0006290)3.25379361
96detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.23685461
97regulation of cilium movement (GO:0003352)3.21415667
98ovulation from ovarian follicle (GO:0001542)3.17619431
99L-fucose catabolic process (GO:0042355)3.16931298
100fucose catabolic process (GO:0019317)3.16931298
101L-fucose metabolic process (GO:0042354)3.16931298
102negative T cell selection (GO:0043383)3.16692068
103regulation of T-helper cell differentiation (GO:0045622)3.16320481
104nitric oxide biosynthetic process (GO:0006809)3.15000423
105arginine metabolic process (GO:0006525)3.13006655
106regulation of RIG-I signaling pathway (GO:0039535)3.12782638
107regulation of T-helper 1 type immune response (GO:0002825)3.11853765
108regulation of cholesterol efflux (GO:0010874)3.11673628
109positive regulation of NF-kappaB import into nucleus (GO:0042346)3.11445585
110positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)3.10114237
111kynurenine metabolic process (GO:0070189)3.10068354
112sulfation (GO:0051923)3.09973362
113negative regulation of mast cell activation (GO:0033004)3.08918494
114fibroblast migration (GO:0010761)3.08141493
115negative regulation of interleukin-10 production (GO:0032693)3.07747617
116adhesion of symbiont to host (GO:0044406)3.07467697
117retinal cone cell development (GO:0046549)3.06712267
118regulation of memory T cell differentiation (GO:0043380)3.06174009
119regulation of monocyte chemotaxis (GO:0090025)3.05759134
120regulation of neutrophil migration (GO:1902622)3.05704780
121regulation of neutrophil chemotaxis (GO:0090022)3.05704780
122alkaloid metabolic process (GO:0009820)3.03813936
123myeloid dendritic cell activation (GO:0001773)3.03448347
124myelin maintenance (GO:0043217)3.03287097
125startle response (GO:0001964)3.02824425
126dentate gyrus development (GO:0021542)3.02518632
127mannosylation (GO:0097502)3.02008636
128glycosphingolipid biosynthetic process (GO:0006688)3.01126326
129pericardium development (GO:0060039)3.00843663
130positive regulation of leukocyte mediated cytotoxicity (GO:0001912)3.00825981
131cilium or flagellum-dependent cell motility (GO:0001539)2.97509741
132prostanoid biosynthetic process (GO:0046457)2.97407159
133prostaglandin biosynthetic process (GO:0001516)2.97407159
134embryonic digestive tract development (GO:0048566)2.96694033
135urea metabolic process (GO:0019627)2.95027702
136urea cycle (GO:0000050)2.95027702
137cellular ketone body metabolic process (GO:0046950)2.94774188
138piRNA metabolic process (GO:0034587)2.94599072
139phosphatidylinositol acyl-chain remodeling (GO:0036149)2.91335993
140positive regulation of oligodendrocyte differentiation (GO:0048714)2.90850316
141peroxisomal transport (GO:0043574)2.83108395
142tryptophan metabolic process (GO:0006568)2.78234505
143preassembly of GPI anchor in ER membrane (GO:0016254)2.78226224
144regulation of protein homooligomerization (GO:0032462)2.78029619
145epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.76252281
146epithelial cilium movement (GO:0003351)2.75952344
147sleep (GO:0030431)2.73760252
148positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:003572.73057907
149intracellular protein transmembrane import (GO:0044743)2.68870443
150purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.68507908
1513-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.68507908
152photoreceptor cell maintenance (GO:0045494)2.66979505
153cornea development in camera-type eye (GO:0061303)2.66805914
154indole-containing compound metabolic process (GO:0042430)2.65134319
155positive regulation of defense response to virus by host (GO:0002230)2.64896205
156negative regulation of cytosolic calcium ion concentration (GO:0051481)2.64594975
157inositol phosphate catabolic process (GO:0071545)2.59337676
158ketone body metabolic process (GO:1902224)2.57893496
159regulation of hexokinase activity (GO:1903299)2.57342567
160regulation of glucokinase activity (GO:0033131)2.57342567
161G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.57181698
162cAMP catabolic process (GO:0006198)2.54377566
163regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:00450912.54070990
164alanine transport (GO:0032328)2.51950444
165cytochrome complex assembly (GO:0017004)2.51430324
166regulation of rhodopsin mediated signaling pathway (GO:0022400)2.50693956
167reflex (GO:0060004)2.48747065
168positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.48646313
169mitotic cell cycle arrest (GO:0071850)2.47976765
170neuronal action potential (GO:0019228)2.46387380
171primary amino compound metabolic process (GO:1901160)2.46374901
172phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.45442077
173regulation of telomere maintenance (GO:0032204)2.45045091
174DNA methylation involved in gamete generation (GO:0043046)2.44294691
175respiratory chain complex IV assembly (GO:0008535)2.43059971
176interferon-gamma production (GO:0032609)2.42930071
177negative regulation of transcription regulatory region DNA binding (GO:2000678)2.42540732
178rhodopsin mediated signaling pathway (GO:0016056)2.42506071
179multicellular organism reproduction (GO:0032504)2.41861055
180protein complex biogenesis (GO:0070271)2.41274145
181regulation of mesoderm development (GO:2000380)2.40768635
182regulation of action potential (GO:0098900)2.40312583
183phosphorylated carbohydrate dephosphorylation (GO:0046838)2.38590865
184inositol phosphate dephosphorylation (GO:0046855)2.38590865
185DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.36222641
186DNA double-strand break processing (GO:0000729)2.35261552
187positive regulation of T cell mediated cytotoxicity (GO:0001916)2.34884510
188cyclic nucleotide catabolic process (GO:0009214)2.34713208
189positive regulation of guanylate cyclase activity (GO:0031284)2.34351223
190activated T cell proliferation (GO:0050798)2.33860555
191phosphatidylserine acyl-chain remodeling (GO:0036150)2.33472332
192polyol catabolic process (GO:0046174)2.33369371
193positive regulation of prostaglandin secretion (GO:0032308)2.33368710
194organelle membrane fusion (GO:0090174)2.33097831
195fucosylation (GO:0036065)2.31691352

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human5.72474229
2ZNF274_21170338_ChIP-Seq_K562_Hela3.93124032
3GBX2_23144817_ChIP-Seq_PC3_Human3.42776934
4RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human3.04346556
5ZFP57_27257070_Chip-Seq_ESCs_Mouse2.53399236
6EGR1_19374776_ChIP-ChIP_THP-1_Human2.49202355
7DROSHA_22980978_ChIP-Seq_HELA_Human2.38236393
8POU3F2_20337985_ChIP-ChIP_501MEL_Human2.25318565
9TAF15_26573619_Chip-Seq_HEK293_Human2.24944044
10FLI1_27457419_Chip-Seq_LIVER_Mouse2.24421141
11FOXO3_23340844_ChIP-Seq_DLD1_Human2.23739778
12FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human2.23011788
13IGF1R_20145208_ChIP-Seq_DFB_Human2.22608023
14IRF8_22096565_ChIP-ChIP_GC-B_Human2.19156980
15NOTCH1_21737748_ChIP-Seq_TLL_Human2.12288382
16CTBP1_25329375_ChIP-Seq_LNCAP_Human2.08580950
17SMAD4_19686287_ChIP-ChIP_HaCaT_Human2.07746786
18ESR1_17901129_ChIP-ChIP_LIVER_Mouse2.06997940
19CTBP2_25329375_ChIP-Seq_LNCAP_Human2.04633474
20RXR_22158963_ChIP-Seq_LIVER_Mouse2.04211612
21GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.95525207
22ERG_21242973_ChIP-ChIP_JURKAT_Human1.93457947
23GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.92843121
24ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.86545835
25TCF4_18268006_ChIP-ChIP_LS174T_Human1.86340766
26EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.85639868
27P300_19829295_ChIP-Seq_ESCs_Human1.85569208
28TRIM28_21343339_ChIP-Seq_HEK293_Human1.84871288
29IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.83469607
30PPARA_22158963_ChIP-Seq_LIVER_Mouse1.82895543
31MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.82664067
32JARID2_20075857_ChIP-Seq_MESCs_Mouse1.81402202
33EWS_26573619_Chip-Seq_HEK293_Human1.81208060
34ER_23166858_ChIP-Seq_MCF-7_Human1.80585303
35TP53_22573176_ChIP-Seq_HFKS_Human1.79788869
36FUS_26573619_Chip-Seq_HEK293_Human1.78099354
37SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.70628640
38EZH2_22144423_ChIP-Seq_EOC_Human1.70038939
39ESR2_21235772_ChIP-Seq_MCF-7_Human1.69808356
40STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.69196516
41EGR1_23403033_ChIP-Seq_LIVER_Mouse1.68674564
42LXR_22158963_ChIP-Seq_LIVER_Mouse1.67452608
43SMAD_19615063_ChIP-ChIP_OVARY_Human1.66899063
44VDR_22108803_ChIP-Seq_LS180_Human1.66465372
45AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.66089569
46HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.64315525
47IRF1_19129219_ChIP-ChIP_H3396_Human1.63983180
48UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.58713725
49IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.58160299
50STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.57862082
51PCGF2_27294783_Chip-Seq_ESCs_Mouse1.56791604
52TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.56012631
53IRF8_21731497_ChIP-ChIP_J774_Mouse1.55441815
54STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.53737841
55FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.53470318
56STAT3_23295773_ChIP-Seq_U87_Human1.50167105
57REST_21632747_ChIP-Seq_MESCs_Mouse1.47394203
58SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.47178871
59SUZ12_27294783_Chip-Seq_ESCs_Mouse1.45852516
60IRF8_27001747_Chip-Seq_BMDM_Mouse1.45469456
61MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.45338578
62SMAD4_21799915_ChIP-Seq_A2780_Human1.44148864
63VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.43652049
64ESR1_21235772_ChIP-Seq_MCF-7_Human1.43090967
65PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.42948582
66NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.42682635
67TCF4_23295773_ChIP-Seq_U87_Human1.40779642
68GATA3_21878914_ChIP-Seq_MCF-7_Human1.39801439
69CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.36765823
70NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.36630803
71NANOG_19829295_ChIP-Seq_ESCs_Human1.35713663
72SOX2_19829295_ChIP-Seq_ESCs_Human1.35713663
73* AR_25329375_ChIP-Seq_VCAP_Human1.34175518
74GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.32609641
75FOXA1_27270436_Chip-Seq_PROSTATE_Human1.32518167
76FOXA1_25329375_ChIP-Seq_VCAP_Human1.32518167
77ETV2_25802403_ChIP-Seq_MESCs_Mouse1.30774669
78BCAT_22108803_ChIP-Seq_LS180_Human1.29804061
79MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.29252998
80SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.29094265
81NR3C1_21868756_ChIP-Seq_MCF10A_Human1.28409179
82AHR_22903824_ChIP-Seq_MCF-7_Human1.28314947
83CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.28057355
84VDR_24787735_ChIP-Seq_THP-1_Human1.27958709
85SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.27833205
86BMI1_23680149_ChIP-Seq_NPCS_Mouse1.26485769
87RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.25000488
88AR_21572438_ChIP-Seq_LNCaP_Human1.23331426
89SOX2_27498859_Chip-Seq_STOMACH_Mouse1.23058949
90SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.22516070
91LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.21714885
92TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.20200763
93TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.18928237
94RUNX2_22187159_ChIP-Seq_PCA_Human1.18881159
95SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.18685723
96* FLI1_21867929_ChIP-Seq_TH2_Mouse1.18559290
97CLOCK_20551151_ChIP-Seq_293T_Human1.18202130
98RUNX1_27514584_Chip-Seq_MCF-7_Human1.17927154
99THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.17910129
100AR_20517297_ChIP-Seq_VCAP_Human1.17745940
101MYC_19829295_ChIP-Seq_ESCs_Human1.17091990
102PIAS1_25552417_ChIP-Seq_VCAP_Human1.16134536
103SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.15084905
104SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.14929837
105FOXA1_21572438_ChIP-Seq_LNCaP_Human1.14906484
106NCOR_22424771_ChIP-Seq_293T_Human1.14769036
107KLF5_20875108_ChIP-Seq_MESCs_Mouse1.14164066
108RNF2_27304074_Chip-Seq_NSC_Mouse1.12800909
109CBX2_27304074_Chip-Seq_ESCs_Mouse1.12156542
110SUZ12_27294783_Chip-Seq_NPCs_Mouse1.10885552
111CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.10877555
112TOP2B_26459242_ChIP-Seq_MCF-7_Human1.10299178
113HOXB7_26014856_ChIP-Seq_BT474_Human1.09845758
114CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.09600540
115CBP_20019798_ChIP-Seq_JUKART_Human1.09556695
116IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.09556695
117FOXA2_19822575_ChIP-Seq_HepG2_Human1.09554838
118BP1_19119308_ChIP-ChIP_Hs578T_Human1.08995819
119TP53_20018659_ChIP-ChIP_R1E_Mouse1.08481257
120P63_26484246_Chip-Seq_KERATINOCYTES_Human1.07825726
121STAT1_17558387_ChIP-Seq_HELA_Human1.07773705
122NFE2_27457419_Chip-Seq_LIVER_Mouse1.07555618
123EZH2_27294783_Chip-Seq_NPCs_Mouse1.07539589
124PRDM14_20953172_ChIP-Seq_ESCs_Human1.07488964
125CDX2_22108803_ChIP-Seq_LS180_Human1.07393789
126PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.07355946
127TAF2_19829295_ChIP-Seq_ESCs_Human1.06921511
128ARNT_22903824_ChIP-Seq_MCF-7_Human1.06647101
129ZNF217_24962896_ChIP-Seq_MCF-7_Human1.05937921
130SOX9_24532713_ChIP-Seq_HFSC_Mouse1.05574625
131SMAD4_21741376_ChIP-Seq_EPCs_Human1.05275076
132JARID2_20064375_ChIP-Seq_MESCs_Mouse1.05257646
133NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.04974973
134TCF4_22108803_ChIP-Seq_LS180_Human1.04326208
135EZH2_18974828_ChIP-Seq_MESCs_Mouse1.04180728
136RNF2_18974828_ChIP-Seq_MESCs_Mouse1.04180728
137CEBPA_26348894_ChIP-Seq_LIVER_Mouse1.03937754
138NANOG_20526341_ChIP-Seq_ESCs_Human1.03353215
139NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.02716207
140EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.02264988
141SMAD3_21741376_ChIP-Seq_EPCs_Human1.01600897
142CRX_20693478_ChIP-Seq_RETINA_Mouse1.01445215
143OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.99327297
144EGR1_19032775_ChIP-ChIP_M12_Human0.99044172
145FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.98217311
146MTF2_20144788_ChIP-Seq_MESCs_Mouse0.97885833
147FOXH1_21741376_ChIP-Seq_EPCs_Human0.97734266
148REST_18959480_ChIP-ChIP_MESCs_Mouse0.97223482
149PCGF2_27294783_Chip-Seq_NPCs_Mouse0.97110899
150TP53_16413492_ChIP-PET_HCT116_Human0.97047228
151NANOG_18347094_ChIP-ChIP_MESCs_Mouse0.95985733
152ERA_21632823_ChIP-Seq_H3396_Human0.94998136
153GABP_17652178_ChIP-ChIP_JURKAT_Human0.94901444
154FOXH1_21741376_ChIP-Seq_ESCs_Human0.94394981
155ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.94226508
156TAL1_26923725_Chip-Seq_HPCs_Mouse0.93735447
157RNF2_27304074_Chip-Seq_ESCs_Mouse0.93154243
158SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.92946478
159IKZF1_21737484_ChIP-ChIP_HCT116_Human0.92460435
160SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.91594538
161GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.90589190
162RING1B_27294783_Chip-Seq_NPCs_Mouse0.90320170
163SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.90193472
164SOX2_20726797_ChIP-Seq_SW620_Human0.89519862
165SALL1_21062744_ChIP-ChIP_HESCs_Human0.86615066
166FOXM1_26456572_ChIP-Seq_MCF-7_Human0.86501125
167STAT3_20064451_ChIP-Seq_CD4+T_Mouse0.86471528
168SMRT_27268052_Chip-Seq_Bcells_Human0.85893349
169BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.85462414
170GATA6_25053715_ChIP-Seq_YYC3_Human0.85137048
171NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.84944844
172EZH2_27304074_Chip-Seq_ESCs_Mouse0.84887144
173TP63_23658742_ChIP-Seq_EP156T_Human0.84500303
174PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.83807436
175* ZFP281_18358816_ChIP-ChIP_MESCs_Mouse0.83607125
176GATA4_25053715_ChIP-Seq_YYC3_Human0.83596219
177PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.82982478
178KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.81941715
179KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.81941715
180KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.81941715
181POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.81684399
182TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.81684399
183P53_22127205_ChIP-Seq_FIBROBLAST_Human0.80900348
184STAT3_18555785_ChIP-Seq_MESCs_Mouse0.80276574
185LXR_22292898_ChIP-Seq_THP-1_Human0.80000896

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005645_abnormal_hypothalamus_physiol6.20144544
2* MP0002254_reproductive_system_inflammat4.99793655
3MP0001835_abnormal_antigen_presentation4.83006190
4MP0004510_myositis4.36422602
5* MP0000685_abnormal_immune_system4.15665131
6MP0003879_abnormal_hair_cell4.08440371
7* MP0002876_abnormal_thyroid_physiology3.38653110
8MP0002138_abnormal_hepatobiliary_system3.30686819
9MP0002877_abnormal_melanocyte_morpholog3.19250840
10MP0008057_abnormal_DNA_replication2.92234844
11* MP0005310_abnormal_salivary_gland2.80840300
12MP0002837_dystrophic_cardiac_calcinosis2.79569293
13MP0005671_abnormal_response_to2.71704760
14MP0001968_abnormal_touch/_nociception2.71409655
15MP0008877_abnormal_DNA_methylation2.68450737
16MP0005646_abnormal_pituitary_gland2.52881255
17MP0005551_abnormal_eye_electrophysiolog2.49552438
18MP0002277_abnormal_respiratory_mucosa2.42150736
19MP0000383_abnormal_hair_follicle2.36470890
20MP0005387_immune_system_phenotype2.33619645
21MP0001790_abnormal_immune_system2.33619645
22MP0010352_gastrointestinal_tract_polyps2.31677143
23MP0001986_abnormal_taste_sensitivity2.30315662
24MP0003453_abnormal_keratinocyte_physiol2.25722403
25MP0010678_abnormal_skin_adnexa2.23409430
26MP0009046_muscle_twitch2.20449803
27MP0004043_abnormal_pH_regulation2.13718666
28MP0004133_heterotaxia2.11115121
29MP0002736_abnormal_nociception_after2.11021016
30MP0010234_abnormal_vibrissa_follicle2.06336384
31MP0005253_abnormal_eye_physiology2.02061566
32MP0001485_abnormal_pinna_reflex2.00739154
33MP0006072_abnormal_retinal_apoptosis1.97588698
34MP0002735_abnormal_chemical_nociception1.96043677
35MP0009745_abnormal_behavioral_response1.86139675
36MP0001501_abnormal_sleep_pattern1.78447767
37MP0003646_muscle_fatigue1.77703335
38MP0008875_abnormal_xenobiotic_pharmacok1.76796408
39MP0003787_abnormal_imprinting1.76110398
40MP0004885_abnormal_endolymph1.74225338
41* MP0001346_abnormal_lacrimal_gland1.73834696
42MP0003045_fibrosis1.73359686
43MP0003880_abnormal_central_pattern1.71415842
44MP0002163_abnormal_gland_morphology1.68792951
45MP0002272_abnormal_nervous_system1.68501958
46* MP0006082_CNS_inflammation1.63709147
47MP0005367_renal/urinary_system_phenotyp1.62330216
48MP0000516_abnormal_urinary_system1.62330216
49MP0003195_calcinosis1.55510802
50MP0001919_abnormal_reproductive_system1.54818264
51MP0005174_abnormal_tail_pigmentation1.53959896
52MP0005379_endocrine/exocrine_gland_phen1.53432167
53MP0010386_abnormal_urinary_bladder1.52123329
54MP0003183_abnormal_peptide_metabolism1.49281452
55MP0002638_abnormal_pupillary_reflex1.48445501
56MP0001486_abnormal_startle_reflex1.47676204
57MP0004142_abnormal_muscle_tone1.47453092
58MP0005167_abnormal_blood-brain_barrier1.45349780
59MP0002148_abnormal_hypersensitivity_rea1.45312189
60MP0001881_abnormal_mammary_gland1.44924566
61MP0002064_seizures1.44511757
62MP0010155_abnormal_intestine_physiology1.41696921
63MP0002102_abnormal_ear_morphology1.41222016
64MP0000631_abnormal_neuroendocrine_gland1.40379879
65MP0005410_abnormal_fertilization1.38879620
66MP0005389_reproductive_system_phenotype1.37978521
67MP0001800_abnormal_humoral_immune1.37031211
68MP0001984_abnormal_olfaction1.34646327
69MP0004147_increased_porphyrin_level1.32795652
70MP0001853_heart_inflammation1.32667643
71MP0000569_abnormal_digit_pigmentation1.27656781
72MP0005084_abnormal_gallbladder_morpholo1.26665455
73MP0000579_abnormal_nail_morphology1.25928148
74MP0003011_delayed_dark_adaptation1.25718168
75MP0003638_abnormal_response/metabolism_1.24082871
76MP0003136_yellow_coat_color1.22396600
77* MP0005647_abnormal_sex_gland1.22064607
78MP0002796_impaired_skin_barrier1.20734435
79MP0005025_abnormal_response_to1.20394787
80MP0003448_altered_tumor_morphology1.17593213
81* MP0001873_stomach_inflammation1.15429792
82MP0000230_abnormal_systemic_arterial1.13547579
83MP0006276_abnormal_autonomic_nervous1.13504320
84MP0002909_abnormal_adrenal_gland1.13493465
85MP0000538_abnormal_urinary_bladder1.13359122
86MP0004782_abnormal_surfactant_physiolog1.13265675
87MP0005187_abnormal_penis_morphology1.11575318
88MP0002557_abnormal_social/conspecific_i1.11370442
89MP0009780_abnormal_chondrocyte_physiolo1.11032103
90MP0003300_gastrointestinal_ulcer1.09946741
91MP0009785_altered_susceptibility_to1.09782148
92MP0001970_abnormal_pain_threshold1.09361714
93MP0001764_abnormal_homeostasis1.08031413
94MP0001765_abnormal_ion_homeostasis1.07029580
95* MP0000470_abnormal_stomach_morphology1.06193216
96MP0002572_abnormal_emotion/affect_behav1.04087496
97MP0000566_synostosis1.02821413
98MP0004019_abnormal_vitamin_homeostasis1.02819204
99MP0008872_abnormal_physiological_respon1.02057473
100MP0003635_abnormal_synaptic_transmissio1.01516686
101* MP0005000_abnormal_immune_tolerance1.01183638
102* MP0001845_abnormal_inflammatory_respons1.00392132
103MP0001905_abnormal_dopamine_level0.99848731
104MP0002229_neurodegeneration0.99141929
105MP0002160_abnormal_reproductive_system0.98781669
106MP0000604_amyloidosis0.98490635
107MP0005423_abnormal_somatic_nervous0.98429950
108MP0003724_increased_susceptibility_to0.98060168
109MP0005365_abnormal_bile_salt0.96745739
110MP0005085_abnormal_gallbladder_physiolo0.95755605
111MP0009765_abnormal_xenobiotic_induced0.95745295
112MP0003718_maternal_effect0.95527974
113MP0004924_abnormal_behavior0.94136729
114MP0005386_behavior/neurological_phenoty0.94136729
115MP0004085_abnormal_heartbeat0.94087663
116MP0005076_abnormal_cell_differentiation0.93931763
117MP0005377_hearing/vestibular/ear_phenot0.93916406
118MP0003878_abnormal_ear_physiology0.93916406
119MP0010329_abnormal_lipoprotein_level0.92832380
120MP0003075_altered_response_to0.92711229
121MP0000647_abnormal_sebaceous_gland0.92590813
122MP0003091_abnormal_cell_migration0.91487927
123MP0002733_abnormal_thermal_nociception0.89884809
124MP0008995_early_reproductive_senescence0.89712921
125MP0004215_abnormal_myocardial_fiber0.89578343
126MP0004947_skin_inflammation0.88589848
127MP0000627_abnormal_mammary_gland0.86988464
128MP0002452_abnormal_antigen_presenting0.86750028
129MP0008775_abnormal_heart_ventricle0.86421114
130MP0002063_abnormal_learning/memory/cond0.86284045
131MP0002970_abnormal_white_adipose0.84991179
132MP0010307_abnormal_tumor_latency0.84534794
133MP0002067_abnormal_sensory_capabilities0.84322578
134MP0003283_abnormal_digestive_organ0.84250771
135MP0005332_abnormal_amino_acid0.83575431
136MP0002928_abnormal_bile_duct0.83437002
137MP0005636_abnormal_mineral_homeostasis0.83270635
138MP0002971_abnormal_brown_adipose0.82112095
139* MP0003698_abnormal_male_reproductive0.81724755
140MP0000372_irregular_coat_pigmentation0.81402695
141* MP0001348_abnormal_lacrimal_gland0.81176778
142MP0002723_abnormal_immune_serum0.80300526
143MP0002938_white_spotting0.79592404
144MP0005075_abnormal_melanosome_morpholog0.79469333
145MP0009643_abnormal_urine_homeostasis0.77557541
146MP0003137_abnormal_impulse_conducting0.77416269
147MP0003959_abnormal_lean_body0.76824635
148MP0009333_abnormal_splenocyte_physiolog0.76557882
149MP0001216_abnormal_epidermal_layer0.76169446
150MP0001502_abnormal_circadian_rhythm0.70345679
151MP0003828_pulmonary_edema0.70056140
152* MP0003763_abnormal_thymus_physiology0.69848733
153MP0003329_amyloid_beta_deposits0.69449971
154* MP0002693_abnormal_pancreas_physiology0.68577407
155MP0004858_abnormal_nervous_system0.67819551
156MP0009115_abnormal_fat_cell0.67383953
157MP0005448_abnormal_energy_balance0.67301783
158MP0005535_abnormal_body_temperature0.66088825
159MP0000427_abnormal_hair_cycle0.65938312
160MP0004264_abnormal_extraembryonic_tissu0.65496930
161* MP0000716_abnormal_immune_system0.64363164
162MP0002098_abnormal_vibrissa_morphology0.64045636
163MP0002419_abnormal_innate_immunity0.63786361
164* MP0002405_respiratory_system_inflammati0.62323760
165* MP0001819_abnormal_immune_cell0.61262849
166MP0008004_abnormal_stomach_pH0.60408444
167MP0005334_abnormal_fat_pad0.58706452
168MP0003172_abnormal_lysosome_physiology0.57176844
169* MP0002420_abnormal_adaptive_immunity0.56596588
170MP0002734_abnormal_mechanical_nocicepti0.55719130
171MP0003436_decreased_susceptibility_to0.55293725
172MP0002060_abnormal_skin_morphology0.54109479
173MP0002722_abnormal_immune_system0.54016664
174MP0005023_abnormal_wound_healing0.53852331
175MP0009763_increased_sensitivity_to0.52809568
176MP0000858_altered_metastatic_potential0.52711331
177MP0005451_abnormal_body_composition0.52126493
178MP0008469_abnormal_protein_level0.51714251
179MP0000733_abnormal_muscle_development0.51614657

Predicted human phenotypes

RankGene SetZ-score
1Upper limb muscle weakness (HP:0003484)5.85445684
2Eczematoid dermatitis (HP:0000976)5.81932424
3Increased IgE level (HP:0003212)5.52995957
4Type 2 muscle fiber atrophy (HP:0003554)5.42699447
5Abnormality of proline metabolism (HP:0010907)5.08452516
6Hydroxyprolinuria (HP:0003080)5.08452516
7Right ventricular cardiomyopathy (HP:0011663)5.05333205
8Muscle fiber atrophy (HP:0100295)4.90902581
9Abnormal pupillary function (HP:0007686)4.90351985
10Tongue fasciculations (HP:0001308)4.73729296
11Lip pit (HP:0100267)4.53286998
12Fatigable weakness (HP:0003473)4.29191638
13Abnormality of the neuromuscular junction (HP:0003398)4.29191638
14Abnormal delayed hypersensitivity skin test (HP:0002963)4.22731871
15Decreased number of large peripheral myelinated nerve fibers (HP:0003387)4.21765893
16Muscle fibrillation (HP:0010546)4.20027701
17Congenital stationary night blindness (HP:0007642)4.16871340
18Double outlet right ventricle (HP:0001719)4.12537438
19Congenital malformation of the right heart (HP:0011723)4.12537438
20Plantar hyperkeratosis (HP:0007556)4.09708666
21Unilateral renal agenesis (HP:0000122)4.01382254
22Onycholysis (HP:0001806)3.87302937
23Pustule (HP:0200039)3.85358881
24Attenuation of retinal blood vessels (HP:0007843)3.80572049
25Pancreatic cysts (HP:0001737)3.77034956
26Abnormal drinking behavior (HP:0030082)3.75238981
27Polydipsia (HP:0001959)3.75238981
28Abnormal auditory evoked potentials (HP:0006958)3.71182700
29Palmoplantar hyperkeratosis (HP:0000972)3.70960837
30Abnormality of midbrain morphology (HP:0002418)3.68936069
31Molar tooth sign on MRI (HP:0002419)3.68936069
32Interstitial pulmonary disease (HP:0006530)3.55084938
33* Chronic mucocutaneous candidiasis (HP:0002728)3.53236290
34* Recurrent cutaneous fungal infections (HP:0011370)3.53236290
35Palmar hyperkeratosis (HP:0010765)3.50171125
36Abnormality of glutamine family amino acid metabolism (HP:0010902)3.48248502
37Colitis (HP:0002583)3.48085996
38Weak cry (HP:0001612)3.47758179
39Nephronophthisis (HP:0000090)3.42429129
40Pancreatic fibrosis (HP:0100732)3.37965888
41Type II lissencephaly (HP:0007260)3.31224000
42True hermaphroditism (HP:0010459)3.30658259
43Villous atrophy (HP:0011473)3.28744325
44Abnormality of small intestinal villus morphology (HP:0011472)3.28744325
45Stomatitis (HP:0010280)3.26787149
46Septo-optic dysplasia (HP:0100842)3.20439758
47Xerostomia (HP:0000217)3.13252535
48Inflammation of the large intestine (HP:0002037)3.08774513
49Agammaglobulinemia (HP:0004432)3.06168012
50Amelogenesis imperfecta (HP:0000705)3.02528367
51Milia (HP:0001056)2.95758191
52* Recurrent fungal infections (HP:0002841)2.95511118
53Cerebellar dysplasia (HP:0007033)2.95117102
54Panhypogammaglobulinemia (HP:0003139)2.95070628
55Recurrent gram-negative bacterial infections (HP:0005420)2.94345887
56Hypomagnesemia (HP:0002917)2.93405896
57Premature loss of primary teeth (HP:0006323)2.92380711
58Confusion (HP:0001289)2.91113419
59Tetraparesis (HP:0002273)2.90588660
60Truncus arteriosus (HP:0001660)2.90297995
61Abnormality of the renal medulla (HP:0100957)2.89298056
62Nasal polyposis (HP:0100582)2.88427558
63Onion bulb formation (HP:0003383)2.82280322
64Polyuria (HP:0000103)2.82173450
65Hyperventilation (HP:0002883)2.81681929
66Gingivitis (HP:0000230)2.81043084
67Gastrointestinal inflammation (HP:0004386)2.78203003
68Recurrent bacterial skin infections (HP:0005406)2.76465420
69Methylmalonic acidemia (HP:0002912)2.75787578
70Abnormality of placental membranes (HP:0011409)2.72029985
71Amniotic constriction ring (HP:0009775)2.72029985
72* Recurrent skin infections (HP:0001581)2.71278762
73Easy fatigability (HP:0003388)2.69887303
74Abnormality of the renal cortex (HP:0011035)2.69837396
75Hypoplasia of the uterus (HP:0000013)2.68499842
76Pendular nystagmus (HP:0012043)2.67842798
77Decreased electroretinogram (ERG) amplitude (HP:0000654)2.65179044
78Increased circulating renin level (HP:0000848)2.64262440
79Abnormal rod and cone electroretinograms (HP:0008323)2.63581584
80Abolished electroretinogram (ERG) (HP:0000550)2.63502140
81Urticaria (HP:0001025)2.63246221
82Tetany (HP:0001281)2.57958436
83Aplasia/Hypoplasia of the tibia (HP:0005772)2.57654287
84Prolonged neonatal jaundice (HP:0006579)2.54930547
85Medial flaring of the eyebrow (HP:0010747)2.54044089
86Progressive inability to walk (HP:0002505)2.51047956
87Hypergammaglobulinemia (HP:0010702)2.49759424
88Chronic hepatic failure (HP:0100626)2.49158664
89* Abnormality of the gastric mucosa (HP:0004295)2.47567581
90Stomach cancer (HP:0012126)2.47484031
91Brushfield spots (HP:0001088)2.45939852
92Decreased muscle mass (HP:0003199)2.45490609
93Hyperglycemia (HP:0003074)2.41375526
94Squamous cell carcinoma (HP:0002860)2.39582413
95Abnormal urine output (HP:0012590)2.38807893
96Abnormal albumin level (HP:0012116)2.37534418
97Hypoalbuminemia (HP:0003073)2.37534418
98Absent speech (HP:0001344)2.37276131
99Esophageal varix (HP:0002040)2.36921382
100Renal cortical cysts (HP:0000803)2.36417779
101Mediastinal lymphadenopathy (HP:0100721)2.33941512
102Maternal diabetes (HP:0009800)2.31922936
103Methylmalonic aciduria (HP:0012120)2.31805044
104Intrahepatic cholestasis (HP:0001406)2.31162872
105Decreased central vision (HP:0007663)2.29823457
106Inability to walk (HP:0002540)2.29143383
107Congenital sensorineural hearing impairment (HP:0008527)2.28203018
108Abnormality of macrophages (HP:0004311)2.28122650
109Abnormality of renin-angiotensin system (HP:0000847)2.26545516
110Hypokalemic alkalosis (HP:0001949)2.25973314
111Neurofibrillary tangles (HP:0002185)2.25329343
112Severe muscular hypotonia (HP:0006829)2.23345431
113Chronic otitis media (HP:0000389)2.23327751
114Abnormality of vitamin B metabolism (HP:0004340)2.22531306
115Abnormality of renal excretion (HP:0011036)2.22510825
116Short tibia (HP:0005736)2.21126331
117Bony spicule pigmentary retinopathy (HP:0007737)2.20217786
118Short 1st metacarpal (HP:0010034)2.19220738
119Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)2.19220738
120Tubular atrophy (HP:0000092)2.18794191
121Abnormality of the nasal mucosa (HP:0000433)2.18085162
122Furrowed tongue (HP:0000221)2.16486045
123Transposition of the great arteries (HP:0001669)2.14607154
124Abnormal connection of the cardiac segments (HP:0011545)2.14607154
125Abnormal ventriculo-arterial connection (HP:0011563)2.14607154
126Lissencephaly (HP:0001339)2.14034884
127Cystic liver disease (HP:0006706)2.12388784
128Hypohidrosis (HP:0000966)2.08684881
129Decreased circulating renin level (HP:0003351)2.08155725
130Hemiparesis (HP:0001269)2.06129592
131Woolly hair (HP:0002224)2.03960433
132Viral hepatitis (HP:0006562)2.03043098
133Pili torti (HP:0003777)2.00303644
134Periodontitis (HP:0000704)1.98300694
135Abnormality of magnesium homeostasis (HP:0004921)1.97795079
136Disproportionate short-trunk short stature (HP:0003521)1.96675694
137Absent rod-and cone-mediated responses on ERG (HP:0007688)1.95797448
138Hypoplasia of the pons (HP:0012110)1.95572343
139Nail dystrophy (HP:0008404)1.94868224
140Ventricular tachycardia (HP:0004756)1.93932534
141Concave nail (HP:0001598)1.92477179
142Flat occiput (HP:0005469)1.92243104
143Increased corneal curvature (HP:0100692)1.92113230
144Keratoconus (HP:0000563)1.92113230
145Abnormality of monocarboxylic acid metabolism (HP:0010996)1.90332952
146Optic disc pallor (HP:0000543)1.89784996
147Abnormality of the 1st metacarpal (HP:0010009)1.89756310
148Abnormality of the pons (HP:0007361)1.89046895
149Ketoacidosis (HP:0001993)1.88991600
150Aplasia/hypoplasia of the uterus (HP:0008684)1.88902445
151Myositis (HP:0100614)1.88547891
152Cerebral inclusion bodies (HP:0100314)1.88132894
153Conical tooth (HP:0000698)1.87846941
154Recurrent lower respiratory tract infections (HP:0002783)1.87641213
155Chorioretinal atrophy (HP:0000533)1.87111248
156Lipid accumulation in hepatocytes (HP:0006561)1.86121710
157Ridged nail (HP:0001807)1.85911163
158Sclerocornea (HP:0000647)1.85874097
159Congenital hepatic fibrosis (HP:0002612)1.84562143
160Congenital, generalized hypertrichosis (HP:0004540)1.83080987
161Abnormality of the vitamin B12 metabolism (HP:0004341)1.82855225
162Increased CSF lactate (HP:0002490)1.80949817
163Epidermoid cyst (HP:0200040)1.80409225
164Reticulocytosis (HP:0001923)1.79927437
165Anencephaly (HP:0002323)1.78956067
166Widely spaced teeth (HP:0000687)1.78503968
167Congenital primary aphakia (HP:0007707)1.78412581
168Clumsiness (HP:0002312)1.77757762
169Abnormality of homocysteine metabolism (HP:0010919)1.76811009
170Homocystinuria (HP:0002156)1.76811009
171Focal motor seizures (HP:0011153)1.76563419
172Oligodactyly (hands) (HP:0001180)1.75652651
173Gait imbalance (HP:0002141)1.75456732
174Epiphyseal stippling (HP:0010655)1.75424252
175Peripheral demyelination (HP:0011096)1.74975288
176* Aplasia/Hypoplasia of the spleen (HP:0010451)1.74839593
177Abnormality of dental color (HP:0011073)1.74290630
178Abnormal biliary tract physiology (HP:0012439)1.73592276
179Bile duct proliferation (HP:0001408)1.73592276
180Facial diplegia (HP:0001349)1.72637721
181Recurrent abscess formation (HP:0002722)1.72458813
182Bilateral microphthalmos (HP:0007633)1.72224417
183Atrophic scars (HP:0001075)1.72155459
184Fragile nails (HP:0001808)1.71816549
185Mesangial abnormality (HP:0001966)1.71798122
186Emphysema (HP:0002097)1.71594585
187Patellar aplasia (HP:0006443)1.71439979
188Alopecia of scalp (HP:0002293)1.71271433
189Synostosis of carpal bones (HP:0005048)1.71199584
190Nephrogenic diabetes insipidus (HP:0009806)1.71077156
191Progressive cerebellar ataxia (HP:0002073)1.70356387
192Aplasia/Hypoplasia of the patella (HP:0006498)1.70253146
193* Type I diabetes mellitus (HP:0100651)1.69788054
194Fair hair (HP:0002286)1.68951137
195Natal tooth (HP:0000695)1.68816954
196Focal seizures (HP:0007359)1.68299054
197Gaze-evoked nystagmus (HP:0000640)1.67957838
198Febrile seizures (HP:0002373)1.66875007
199Type II diabetes mellitus (HP:0005978)1.64973343

Predicted kinase interactions (KEA)

RankGene SetZ-score
1MAP3K146.89397407
2EPHA35.35462229
3FRK5.34147187
4WNK45.24885515
5STK394.30076218
6DYRK34.12431415
7NME14.06744987
8EPHB13.65872125
9OXSR13.59494730
10MAP4K23.49431334
11FGFR43.38873527
12EPHA22.97684446
13ADRBK22.88213922
14NLK2.50911917
15IRAK42.42980436
16PINK12.35070895
17WNK32.33998656
18TXK2.28743249
19MAP3K132.26939652
20DYRK1B2.21783115
21CHUK2.21486812
22ZAK1.97409955
23JAK31.82172922
24ACVR1B1.81749612
25PASK1.78211984
26CDC42BPA1.71182485
27FGFR31.66397216
28IKBKB1.64976982
29TYK21.63969072
30PTK61.62774989
31IKBKE1.54583023
32TBK11.53980715
33BMPR1B1.50849481
34MAPK151.49024998
35IRAK11.45440540
36MAPK131.44308578
37GRK51.41621072
38IRAK31.35887175
39TLK11.33961786
40MAP3K71.31313201
41MAP3K41.28994322
42MUSK1.27881092
43CASK1.26651465
44TAOK31.24243088
45MATK1.23918465
46FER1.22021299
47BCR1.21336673
48JAK11.10582202
49JAK21.09103878
50DDR21.08797743
51PHKG21.08689166
52PHKG11.08689166
53TGFBR11.06964706
54INSRR1.06793262
55PAK31.06599681
56ADRBK11.05831826
57PTK21.05192501
58ERBB31.04388227
59MST41.04224190
60ITK1.03282159
61BTK0.99902606
62FGFR20.99261853
63BMPR20.93747648
64PLK20.93415427
65SCYL20.92740632
66TNIK0.92617994
67CDK80.90975938
68MAP2K20.90545220
69CAMKK10.89063089
70PTK2B0.87932595
71CAMKK20.86275681
72TSSK60.86233368
73EPHA40.86039802
74MKNK10.84740290
75DYRK1A0.83328804
76NTRK30.77877885
77EIF2AK20.77129309
78MAP2K60.76501256
79PRKCI0.74523669
80PRKAA20.74260660
81RPS6KB20.73478010
82CSNK1G20.72125565
83MAP2K70.71186916
84PRKCG0.66674468
85STK100.65466670
86MAP3K100.64730853
87CDK90.62748604
88TNK20.57597530
89TEC0.57014400
90ALK0.56885094
91MAPKAPK50.56036698
92NTRK10.55470864
93SYK0.55461250
94PKN10.55074587
95MAP4K10.54719104
96CSNK1G10.53546731
97CDK30.53251630
98CSNK1G30.50673391
99MARK10.50621073
100MELK0.49695572
101DYRK20.47942547
102LRRK20.47558040
103PRKG20.46946046
104STK38L0.46194183
105FES0.45600784
106TIE10.44804504
107CSNK1A1L0.44024204
108CAMK2A0.43511724
109TYRO30.43414534
110PRKACA0.42505819
111PRKCQ0.42062269
112PRKCD0.41905748
113CSNK1A10.41624638
114LYN0.41506561
115HCK0.41297556
116DAPK20.40120876
117RPS6KA50.40018581
118FLT30.39709725
119LMTK20.39179554
120HIPK20.38763661
121NTRK20.38582039
122MKNK20.38088882
123MST1R0.36335662
124MAP2K10.35115865
125GRK70.34929735
126PRKCA0.34914623
127BRSK20.34785013
128SRC0.34756626
129ICK0.34328675
130PDGFRA0.34163279
131CDK120.34148749
132STK110.33882218
133BCKDK0.33853422
134CLK10.33184390
135MTOR0.29360781
136CSF1R0.28804396
137ERBB20.28348382
138CSNK1D0.27739246
139ABL10.27366262
140PNCK0.27285737
141LATS10.26911953
142EIF2AK30.26666456
143PRKG10.26626180
144FGR0.26477495
145MINK10.26102693
146KIT0.26060699
147GRK10.25677426
148MAPKAPK20.25566469
149EGFR0.24552664
150PRKCZ0.23917368
151MAPK30.23535705
152ROCK20.23300658
153AKT30.22457714
154RET0.21848865
155MAPK80.20585810
156CSK0.20374574
157RPS6KA10.20369558
158PRKCE0.19965156
159* PRKDC0.19087553
160GRK60.18997944
161MET0.18895484
162NUAK10.17957052
163SIK30.15198754
164GSK3A0.14514995
165LCK0.14173467

Predicted pathways (KEGG)

RankGene SetZ-score
1Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004007.76425555
2Histidine metabolism_Homo sapiens_hsa003403.99332003
3Antigen processing and presentation_Homo sapiens_hsa046123.21607622
4Arginine biosynthesis_Homo sapiens_hsa002202.98870751
5Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.87270772
6Intestinal immune network for IgA production_Homo sapiens_hsa046722.73025629
7NF-kappa B signaling pathway_Homo sapiens_hsa040642.62085087
8Phenylalanine metabolism_Homo sapiens_hsa003602.53776511
9Phototransduction_Homo sapiens_hsa047442.45774188
10Cyanoamino acid metabolism_Homo sapiens_hsa004602.37513256
11Neuroactive ligand-receptor interaction_Homo sapiens_hsa040802.24426247
12Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.19542425
13Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.19064036
14Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001302.05252079
15Leishmaniasis_Homo sapiens_hsa051402.02004590
16Collecting duct acid secretion_Homo sapiens_hsa049661.99652758
17Linoleic acid metabolism_Homo sapiens_hsa005911.94608446
18Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.88583576
19African trypanosomiasis_Homo sapiens_hsa051431.87584143
20Allograft rejection_Homo sapiens_hsa053301.86873965
21alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.84584340
22Oxidative phosphorylation_Homo sapiens_hsa001901.83985531
23Tryptophan metabolism_Homo sapiens_hsa003801.83011158
24Asthma_Homo sapiens_hsa053101.75407079
25Butanoate metabolism_Homo sapiens_hsa006501.59294128
26NOD-like receptor signaling pathway_Homo sapiens_hsa046211.48322126
27Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.46099807
28Caffeine metabolism_Homo sapiens_hsa002321.43695919
29Olfactory transduction_Homo sapiens_hsa047401.42760322
30Osteoclast differentiation_Homo sapiens_hsa043801.36209135
31Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.35712669
32Toxoplasmosis_Homo sapiens_hsa051451.34774287
33Taste transduction_Homo sapiens_hsa047421.33757569
34Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.30916674
35Protein export_Homo sapiens_hsa030601.28992401
36Tyrosine metabolism_Homo sapiens_hsa003501.27692077
37Basal transcription factors_Homo sapiens_hsa030221.27197688
38Primary bile acid biosynthesis_Homo sapiens_hsa001201.25893602
39Insulin secretion_Homo sapiens_hsa049111.25327292
40Morphine addiction_Homo sapiens_hsa050321.21893383
41Cysteine and methionine metabolism_Homo sapiens_hsa002701.20140631
42Autoimmune thyroid disease_Homo sapiens_hsa053201.19780684
43Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.18650236
44RNA degradation_Homo sapiens_hsa030181.18430068
45Regulation of autophagy_Homo sapiens_hsa041401.17439814
46Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.16741161
47Fanconi anemia pathway_Homo sapiens_hsa034601.16146182
48ABC transporters_Homo sapiens_hsa020101.14291557
49Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.13017079
50Small cell lung cancer_Homo sapiens_hsa052221.11431651
51Maturity onset diabetes of the young_Homo sapiens_hsa049501.10919863
52Vitamin digestion and absorption_Homo sapiens_hsa049771.09470530
53RNA polymerase_Homo sapiens_hsa030201.08522216
54Parkinsons disease_Homo sapiens_hsa050121.08196735
55Arachidonic acid metabolism_Homo sapiens_hsa005901.04949513
56* Primary immunodeficiency_Homo sapiens_hsa053401.04655048
57Circadian rhythm_Homo sapiens_hsa047101.02086018
58Arginine and proline metabolism_Homo sapiens_hsa003301.01257955
59Ether lipid metabolism_Homo sapiens_hsa005651.00889705
60One carbon pool by folate_Homo sapiens_hsa006700.99254508
61Salivary secretion_Homo sapiens_hsa049700.97779696
62RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.97237810
63Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.96711623
64Legionellosis_Homo sapiens_hsa051340.94967534
65Circadian entrainment_Homo sapiens_hsa047130.94658740
66Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.91278838
67TNF signaling pathway_Homo sapiens_hsa046680.91053322
68Cardiac muscle contraction_Homo sapiens_hsa042600.90176753
69Homologous recombination_Homo sapiens_hsa034400.89009509
70Glycosaminoglycan degradation_Homo sapiens_hsa005310.88422751
71Graft-versus-host disease_Homo sapiens_hsa053320.87449907
72Ovarian steroidogenesis_Homo sapiens_hsa049130.85665811
73Mineral absorption_Homo sapiens_hsa049780.85649465
74Staphylococcus aureus infection_Homo sapiens_hsa051500.83408519
75Apoptosis_Homo sapiens_hsa042100.82077992
76Glutamatergic synapse_Homo sapiens_hsa047240.79766495
77Tuberculosis_Homo sapiens_hsa051520.76810173
78Fat digestion and absorption_Homo sapiens_hsa049750.76769887
79Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.76475514
80Chemokine signaling pathway_Homo sapiens_hsa040620.75111496
81Sulfur relay system_Homo sapiens_hsa041220.74605719
82Alzheimers disease_Homo sapiens_hsa050100.73413189
83Calcium signaling pathway_Homo sapiens_hsa040200.73096917
84Retinol metabolism_Homo sapiens_hsa008300.72354774
85Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.72098702
86Jak-STAT signaling pathway_Homo sapiens_hsa046300.72071460
87Glycerolipid metabolism_Homo sapiens_hsa005610.71942124
88Propanoate metabolism_Homo sapiens_hsa006400.71555562
89GABAergic synapse_Homo sapiens_hsa047270.71327039
90Huntingtons disease_Homo sapiens_hsa050160.70168640
91Folate biosynthesis_Homo sapiens_hsa007900.69585222
92Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.68473257
93SNARE interactions in vesicular transport_Homo sapiens_hsa041300.68317266
94Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.68078449
95Pentose and glucuronate interconversions_Homo sapiens_hsa000400.68024225
96Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.67554482
97Pertussis_Homo sapiens_hsa051330.66595639
98Type I diabetes mellitus_Homo sapiens_hsa049400.66186002
99Amphetamine addiction_Homo sapiens_hsa050310.63655816
100Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.61334947
101Prolactin signaling pathway_Homo sapiens_hsa049170.57958912
102Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.57142116
103Toll-like receptor signaling pathway_Homo sapiens_hsa046200.56836371
104Complement and coagulation cascades_Homo sapiens_hsa046100.56696821
105Metabolic pathways_Homo sapiens_hsa011000.56626816
106Measles_Homo sapiens_hsa051620.56124402
107p53 signaling pathway_Homo sapiens_hsa041150.55561733
108cAMP signaling pathway_Homo sapiens_hsa040240.54742098
109Chemical carcinogenesis_Homo sapiens_hsa052040.53112512
110Synaptic vesicle cycle_Homo sapiens_hsa047210.52948550
111Influenza A_Homo sapiens_hsa051640.52599511
112Dorso-ventral axis formation_Homo sapiens_hsa043200.51000790
113Rheumatoid arthritis_Homo sapiens_hsa053230.50493784
114Amoebiasis_Homo sapiens_hsa051460.49173603
115Nicotine addiction_Homo sapiens_hsa050330.46836215
116Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.46454153
117Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.45262762
118Pancreatic cancer_Homo sapiens_hsa052120.44041307
119Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.44016875
120Purine metabolism_Homo sapiens_hsa002300.43666302
121Vascular smooth muscle contraction_Homo sapiens_hsa042700.43663605
122Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.40881694
123beta-Alanine metabolism_Homo sapiens_hsa004100.40673453
124MicroRNAs in cancer_Homo sapiens_hsa052060.39838174
125Sphingolipid metabolism_Homo sapiens_hsa006000.39627849
126Pathways in cancer_Homo sapiens_hsa052000.38414367
127B cell receptor signaling pathway_Homo sapiens_hsa046620.37692793
128Melanoma_Homo sapiens_hsa052180.36382491
129Selenocompound metabolism_Homo sapiens_hsa004500.35855586
130Herpes simplex infection_Homo sapiens_hsa051680.35271539
131Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.34679305
132Dopaminergic synapse_Homo sapiens_hsa047280.34122934
133Glycerophospholipid metabolism_Homo sapiens_hsa005640.33837676
134Leukocyte transendothelial migration_Homo sapiens_hsa046700.33772812
135PPAR signaling pathway_Homo sapiens_hsa033200.33243420
136HTLV-I infection_Homo sapiens_hsa051660.32536949
137Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.31875088
138Nitrogen metabolism_Homo sapiens_hsa009100.31814346
139Malaria_Homo sapiens_hsa051440.31753436
140Basal cell carcinoma_Homo sapiens_hsa052170.30583730
141Hedgehog signaling pathway_Homo sapiens_hsa043400.29573346
142Steroid hormone biosynthesis_Homo sapiens_hsa001400.29392451
143Adipocytokine signaling pathway_Homo sapiens_hsa049200.29221690
144Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.29056584
145Acute myeloid leukemia_Homo sapiens_hsa052210.28830423
146Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.28252752
147Adherens junction_Homo sapiens_hsa045200.27623653
148MAPK signaling pathway_Homo sapiens_hsa040100.26717183
149Pyruvate metabolism_Homo sapiens_hsa006200.25720906
150Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.25500529
151Peroxisome_Homo sapiens_hsa041460.25115262
152Serotonergic synapse_Homo sapiens_hsa047260.25049536
153Ras signaling pathway_Homo sapiens_hsa040140.24235681
154Hepatitis B_Homo sapiens_hsa051610.23756142
155Hepatitis C_Homo sapiens_hsa051600.23074074
156Sulfur metabolism_Homo sapiens_hsa009200.22653479

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