TOR1AIP2

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: One of the two protein isoforms encoded by this gene is a type II integral membrane protein found in the endoplasmic reticulum (ER). The encoded protein is a cofactor for the ATPase TorsinA, regulating the amount of TorsinA present in the ER compared to that found in the nuclear envelope. Defects in this protein are a cause of early onset primary dystonia, a neuromuscular disease. The other isoform encoded by this gene is an interferon alpha responsive protein whose cellular role has yet to be determined. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1response to pheromone (GO:0019236)4.14534222
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)3.92275025
3L-phenylalanine catabolic process (GO:0006559)3.92275025
4L-phenylalanine metabolic process (GO:0006558)3.78264486
5erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.78264486
6cellular ketone body metabolic process (GO:0046950)3.77535220
7regulation of glucokinase activity (GO:0033131)3.76751804
8regulation of hexokinase activity (GO:1903299)3.76751804
9L-fucose catabolic process (GO:0042355)3.74297009
10fucose catabolic process (GO:0019317)3.74297009
11L-fucose metabolic process (GO:0042354)3.74297009
12respiratory chain complex IV assembly (GO:0008535)3.71236450
13water-soluble vitamin biosynthetic process (GO:0042364)3.67973331
14ketone body metabolic process (GO:1902224)3.64291685
15low-density lipoprotein particle clearance (GO:0034383)3.60538907
16signal peptide processing (GO:0006465)3.58717829
17triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.57549877
18peptidyl-glutamic acid carboxylation (GO:0017187)3.49120924
19protein carboxylation (GO:0018214)3.49120924
20plasma lipoprotein particle clearance (GO:0034381)3.46568800
21platelet dense granule organization (GO:0060155)3.45372127
22keratinocyte development (GO:0003334)3.43178266
23aromatic amino acid family catabolic process (GO:0009074)3.42932366
24intestinal cholesterol absorption (GO:0030299)3.41679371
25urea cycle (GO:0000050)3.34133177
26urea metabolic process (GO:0019627)3.34133177
27high-density lipoprotein particle remodeling (GO:0034375)3.32187475
28UDP-N-acetylglucosamine metabolic process (GO:0006047)3.30836486
29positive regulation of interferon-alpha production (GO:0032727)3.26642786
30negative regulation of fibrinolysis (GO:0051918)3.26409383
31alpha-linolenic acid metabolic process (GO:0036109)3.24882383
32prenylation (GO:0097354)3.24380087
33protein prenylation (GO:0018342)3.24380087
34cysteine metabolic process (GO:0006534)3.22717239
35replication fork processing (GO:0031297)3.18676122
36regulation of protein activation cascade (GO:2000257)3.17944641
37reverse cholesterol transport (GO:0043691)3.17874289
38detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.17519001
39homocysteine metabolic process (GO:0050667)3.16913060
40positive regulation of glycoprotein biosynthetic process (GO:0010560)3.14756500
41cytochrome complex assembly (GO:0017004)3.13627699
42indolalkylamine metabolic process (GO:0006586)3.12346316
43lactate metabolic process (GO:0006089)3.07316767
44regulation of complement activation (GO:0030449)3.04830673
45regulation of interferon-alpha production (GO:0032647)3.04804616
46negative regulation of DNA-dependent DNA replication (GO:2000104)3.04736518
47phospholipid efflux (GO:0033700)3.03242499
48bile acid biosynthetic process (GO:0006699)3.02340379
49cholesterol efflux (GO:0033344)3.02015184
50complement activation, alternative pathway (GO:0006957)3.01046154
51protein K6-linked ubiquitination (GO:0085020)3.00493110
52lipoprotein metabolic process (GO:0042157)3.00171212
53tryptophan metabolic process (GO:0006568)2.99954449
54tryptophan catabolic process (GO:0006569)2.99292475
55indole-containing compound catabolic process (GO:0042436)2.99292475
56indolalkylamine catabolic process (GO:0046218)2.99292475
57protein K11-linked deubiquitination (GO:0035871)2.98926160
58behavioral response to nicotine (GO:0035095)2.98589155
59nitrogen cycle metabolic process (GO:0071941)2.97803379
60kynurenine metabolic process (GO:0070189)2.96765019
61regulation of hippo signaling (GO:0035330)2.96374379
62antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.96094725
63antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.96094725
64glyoxylate metabolic process (GO:0046487)2.95521114
65intestinal absorption (GO:0050892)2.94781844
66plasma lipoprotein particle assembly (GO:0034377)2.92991627
67regulation of cholesterol homeostasis (GO:2000188)2.91913053
68regulation of fibrinolysis (GO:0051917)2.89303654
69protein-lipid complex assembly (GO:0065005)2.89256388
70positive regulation of protein autophosphorylation (GO:0031954)2.86909615
71sulfur amino acid catabolic process (GO:0000098)2.86588665
72regulation of cholesterol esterification (GO:0010872)2.86273341
73regulation of cholesterol storage (GO:0010885)2.86240064
74regulation of triglyceride catabolic process (GO:0010896)2.84361132
75negative regulation of sterol transport (GO:0032372)2.84280676
76negative regulation of cholesterol transport (GO:0032375)2.84280676
77cholesterol homeostasis (GO:0042632)2.82811135
78macromolecular complex remodeling (GO:0034367)2.82260892
79plasma lipoprotein particle remodeling (GO:0034369)2.82260892
80protein-lipid complex remodeling (GO:0034368)2.82260892
81phospholipid homeostasis (GO:0055091)2.81016551
82sterol homeostasis (GO:0055092)2.80922628
83fibrinolysis (GO:0042730)2.80837654
84aldehyde catabolic process (GO:0046185)2.80272282
85polyol catabolic process (GO:0046174)2.78920463
86positive regulation of lipoprotein lipase activity (GO:0051006)2.78399351
87positive regulation of triglyceride lipase activity (GO:0061365)2.78399351
88cellular glucuronidation (GO:0052695)2.77554453
89kidney morphogenesis (GO:0060993)2.75658160
90very-low-density lipoprotein particle assembly (GO:0034379)2.75499181
91heme transport (GO:0015886)2.75114854
923-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.74476976
93purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.74476976
94S-adenosylmethionine metabolic process (GO:0046500)2.74473859
95triglyceride homeostasis (GO:0070328)2.73445121
96acylglycerol homeostasis (GO:0055090)2.73445121
97antigen processing and presentation of endogenous antigen (GO:0019883)2.73107614
98positive regulation of heterotypic cell-cell adhesion (GO:0034116)2.71789178
99proteasome assembly (GO:0043248)2.70446340
100cellular response to interferon-alpha (GO:0035457)2.69227851
101tyrosine metabolic process (GO:0006570)2.68212965
102DNA double-strand break processing (GO:0000729)2.68205974
103negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.66986475
104negative regulation of translation, ncRNA-mediated (GO:0040033)2.66986475
105regulation of translation, ncRNA-mediated (GO:0045974)2.66986475
106double-strand break repair via homologous recombination (GO:0000724)2.66867472
107dorsal/ventral axis specification (GO:0009950)2.66290134
108bile acid metabolic process (GO:0008206)2.66288228
109positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.65782505
110recombinational repair (GO:0000725)2.65051992
111positive regulation of glycolytic process (GO:0045821)2.62804396
112fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)2.62567433
113glucuronate metabolic process (GO:0019585)2.62263483
114uronic acid metabolic process (GO:0006063)2.62263483
115RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)2.60711357
116negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.57811352
117lysine catabolic process (GO:0006554)2.56266346
118lysine metabolic process (GO:0006553)2.56266346
119cell adhesion mediated by integrin (GO:0033627)2.54008731
120COPI coating of Golgi vesicle (GO:0048205)2.51128190
121Golgi transport vesicle coating (GO:0048200)2.51128190
122DNA deamination (GO:0045006)2.50257957
123cholesterol transport (GO:0030301)2.50093414
124sterol transport (GO:0015918)2.50093414
125detection of light stimulus involved in sensory perception (GO:0050962)2.48917587
126detection of light stimulus involved in visual perception (GO:0050908)2.48917587
127protein-lipid complex subunit organization (GO:0071825)2.48654462
128plasma lipoprotein particle organization (GO:0071827)2.47915150
129inositol phosphate catabolic process (GO:0071545)2.47534361
130regulation of nuclear cell cycle DNA replication (GO:0033262)2.47367242
131aromatic amino acid family metabolic process (GO:0009072)2.46945822
132atrial cardiac muscle cell action potential (GO:0086014)2.46659868
133benzene-containing compound metabolic process (GO:0042537)2.46561671
134epoxygenase P450 pathway (GO:0019373)2.46234805
135amino-acid betaine metabolic process (GO:0006577)2.44664578
136growth hormone receptor signaling pathway (GO:0060396)2.44395218
137bile acid and bile salt transport (GO:0015721)2.44287155
138prostate gland growth (GO:0060736)2.43880981
139amine catabolic process (GO:0009310)2.43046311
140cellular biogenic amine catabolic process (GO:0042402)2.43046311
141endosome to melanosome transport (GO:0035646)2.42923425
142endosome to pigment granule transport (GO:0043485)2.42923425
143serine family amino acid catabolic process (GO:0009071)2.42717852
144oxidative demethylation (GO:0070989)2.42577307
145negative regulation of lipid storage (GO:0010888)2.42495309
146synapsis (GO:0007129)2.42379185
147negative regulation of fatty acid biosynthetic process (GO:0045717)2.42302822
148response to interferon-alpha (GO:0035455)2.42122405
149acute-phase response (GO:0006953)2.41974902
150glycine metabolic process (GO:0006544)2.41770317
151phasic smooth muscle contraction (GO:0014821)2.41739182
152positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.41280335
153COPII vesicle coating (GO:0048208)2.40787054
154positive regulation of lipid catabolic process (GO:0050996)2.39426137
155pancreas development (GO:0031016)2.38990271
156sulfation (GO:0051923)2.37690104
157dopamine transport (GO:0015872)2.37537844
158drug catabolic process (GO:0042737)2.37523395
159regulation of bile acid biosynthetic process (GO:0070857)2.37144736
160serine family amino acid biosynthetic process (GO:0009070)2.35928132
161serine family amino acid metabolic process (GO:0009069)2.35919835
162mannosylation (GO:0097502)2.35331358
163regulation of plasminogen activation (GO:0010755)2.34687224
164reciprocal DNA recombination (GO:0035825)2.34671076
165reciprocal meiotic recombination (GO:0007131)2.34671076
166modulation by symbiont of host immune response (GO:0052553)2.34622952
167modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.34622952
168protein complex biogenesis (GO:0070271)2.34227403
169regulation of ER to Golgi vesicle-mediated transport (GO:0060628)2.33903979
170transepithelial transport (GO:0070633)2.32461274
171peptidyl-histidine modification (GO:0018202)2.32347810
172zinc ion transport (GO:0006829)2.31664941
173preassembly of GPI anchor in ER membrane (GO:0016254)2.31239266
174L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.31129410
175regulation of sulfur metabolic process (GO:0042762)2.30812643
176regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)2.30561069
177regulation of acrosome reaction (GO:0060046)2.29395908
178cornea development in camera-type eye (GO:0061303)2.29046893
179reflex (GO:0060004)2.28460245
180maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.27746187
181photoreceptor cell maintenance (GO:0045494)2.27745953
182genitalia morphogenesis (GO:0035112)2.27285298
183embryonic axis specification (GO:0000578)2.26452720
184regulation of centriole replication (GO:0046599)2.26087531
185thyroid hormone metabolic process (GO:0042403)2.25861370
186neural tube formation (GO:0001841)2.25523082
187inositol phosphate-mediated signaling (GO:0048016)2.25374637
188regulation of acyl-CoA biosynthetic process (GO:0050812)2.24291592
189positive regulation of glycoprotein metabolic process (GO:1903020)2.23692218
190regulation of protein autophosphorylation (GO:0031952)2.23230461
191indole-containing compound metabolic process (GO:0042430)2.23185497
192mitochondrial respiratory chain complex assembly (GO:0033108)2.23149247
193regulation of DNA endoreduplication (GO:0032875)2.22454488
194proline transport (GO:0015824)2.21788888

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse5.81303612
2TP63_17297297_ChIP-ChIP_HaCaT_Human4.33562834
3RXR_22158963_ChIP-Seq_LIVER_Mouse4.18538312
4PPARA_22158963_ChIP-Seq_LIVER_Mouse3.90079767
5* IRF8_22096565_ChIP-ChIP_GC-B_Human3.85236975
6EGR1_23403033_ChIP-Seq_LIVER_Mouse3.59441092
7LXR_22158963_ChIP-Seq_LIVER_Mouse3.50266861
8SALL1_21062744_ChIP-ChIP_HESCs_Human3.17020950
9ZNF274_21170338_ChIP-Seq_K562_Hela3.12802577
10IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.96403174
11PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.85882147
12* POU3F2_20337985_ChIP-ChIP_501MEL_Human2.79927188
13VDR_22108803_ChIP-Seq_LS180_Human2.71807562
14CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.71260820
15TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.66784703
16IRF8_21731497_ChIP-ChIP_J774_Mouse2.65597808
17ZFP57_27257070_Chip-Seq_ESCs_Mouse2.61066190
18GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.59795797
19GBX2_23144817_ChIP-Seq_PC3_Human2.55792381
20NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.51924104
21CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.49768466
22EGR1_19374776_ChIP-ChIP_THP-1_Human2.42074777
23CLOCK_20551151_ChIP-Seq_293T_Human2.39266819
24RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.35576054
25FUS_26573619_Chip-Seq_HEK293_Human2.35251677
26GATA1_22025678_ChIP-Seq_K562_Human2.35019456
27EWS_26573619_Chip-Seq_HEK293_Human2.32810555
28FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.29670032
29GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.23861838
30AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human2.22852641
31STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.22094578
32STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse2.19478593
33FLI1_27457419_Chip-Seq_LIVER_Mouse2.18867789
34P300_19829295_ChIP-Seq_ESCs_Human2.16311704
35TRIM28_21343339_ChIP-Seq_HEK293_Human2.11176392
36CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.04535041
37TAF15_26573619_Chip-Seq_HEK293_Human1.99837338
38IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.98732841
39IGF1R_20145208_ChIP-Seq_DFB_Human1.98238321
40FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.95530062
41KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.89189592
42ER_23166858_ChIP-Seq_MCF-7_Human1.85321406
43BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.84100406
44* NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.81384044
45PIAS1_25552417_ChIP-Seq_VCAP_Human1.79354151
46CTBP2_25329375_ChIP-Seq_LNCAP_Human1.79064285
47NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.78128626
48ELK1_19687146_ChIP-ChIP_HELA_Human1.74551517
49RARG_19884340_ChIP-ChIP_MEFs_Mouse1.71716986
50Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.70350945
51PCGF2_27294783_Chip-Seq_ESCs_Mouse1.70293620
52* IRF8_27001747_Chip-Seq_BMDM_Mouse1.69398049
53TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.69369161
54CTBP1_25329375_ChIP-Seq_LNCAP_Human1.64083237
55SMAD4_21799915_ChIP-Seq_A2780_Human1.63585476
56HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.63254243
57SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.61958851
58E2F7_22180533_ChIP-Seq_HELA_Human1.61741457
59HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.61562393
60CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.61415792
61SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.61327241
62SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.60435287
63STAT3_23295773_ChIP-Seq_U87_Human1.59453538
64SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.57896887
65MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.57730159
66* EZH2_27294783_Chip-Seq_NPCs_Mouse1.57350974
67BCAT_22108803_ChIP-Seq_LS180_Human1.56171471
68AR_21909140_ChIP-Seq_LNCAP_Human1.55692943
69GABP_17652178_ChIP-ChIP_JURKAT_Human1.55553180
70SUZ12_27294783_Chip-Seq_NPCs_Mouse1.55102345
71* SALL4_18804426_ChIP-ChIP_XEN_Mouse1.54459590
72SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.54204563
73UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.53001677
74SOX2_27498859_Chip-Seq_STOMACH_Mouse1.51751658
75MYB_21317192_ChIP-Seq_ERMYB_Mouse1.47593860
76* NFE2_27457419_Chip-Seq_LIVER_Mouse1.45294777
77IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.45210891
78CBP_20019798_ChIP-Seq_JUKART_Human1.45210891
79SMAD3_21741376_ChIP-Seq_EPCs_Human1.45029759
80FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.43852763
81EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.43663435
82SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.43488050
83GATA4_25053715_ChIP-Seq_YYC3_Human1.43284125
84OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.43188225
85AR_25329375_ChIP-Seq_VCAP_Human1.42970683
86FOXO3_23340844_ChIP-Seq_DLD1_Human1.42733668
87TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.41102955
88NR3C1_21868756_ChIP-Seq_MCF10A_Human1.40623705
89* TCF4_22108803_ChIP-Seq_LS180_Human1.40162443
90CDX2_22108803_ChIP-Seq_LS180_Human1.38490250
91MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.38170184
92FOXM1_26456572_ChIP-Seq_MCF-7_Human1.36790632
93TCF4_23295773_ChIP-Seq_U87_Human1.36408327
94SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.35797351
95SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.35797351
96NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.35019546
97* NANOG_18555785_Chip-Seq_ESCs_Mouse1.34574396
98* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.34458423
99NOTCH1_21737748_ChIP-Seq_TLL_Human1.33987858
100* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.33736259
101PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.32972771
102KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.32157576
103MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.31419845
104SOX2_20726797_ChIP-Seq_SW620_Human1.31400063
105TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.30151663
106* NANOG_19829295_ChIP-Seq_ESCs_Human1.30107209
107* SOX2_19829295_ChIP-Seq_ESCs_Human1.30107209
108EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.28839549
109GATA6_25053715_ChIP-Seq_YYC3_Human1.25900410
110* CRX_20693478_ChIP-Seq_RETINA_Mouse1.25798875
111ZNF217_24962896_ChIP-Seq_MCF-7_Human1.25646345
112PCGF2_27294783_Chip-Seq_NPCs_Mouse1.25330608
113RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.23245481
114* P53_22387025_ChIP-Seq_ESCs_Mouse1.23122515
115EST1_17652178_ChIP-ChIP_JURKAT_Human1.22377252
116ESR1_21235772_ChIP-Seq_MCF-7_Human1.22117792
117PPAR_26484153_Chip-Seq_NCI-H1993_Human1.22055089
118EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.21128474
119HIF1A_21447827_ChIP-Seq_MCF-7_Human1.21041597
120TP53_22573176_ChIP-Seq_HFKS_Human1.19645178
121BRD4_27068464_Chip-Seq_AML-cells_Mouse1.19517215
122TP53_16413492_ChIP-PET_HCT116_Human1.19155257
123SMAD_19615063_ChIP-ChIP_OVARY_Human1.18786005
124KLF5_20875108_ChIP-Seq_MESCs_Mouse1.18646527
125CDX2_19796622_ChIP-Seq_MESCs_Mouse1.18102056
126* E2F1_18555785_Chip-Seq_ESCs_Mouse1.17766117
127STAT3_1855785_ChIP-Seq_MESCs_Mouse1.17754179
128MYC_18940864_ChIP-ChIP_HL60_Human1.15240756
129TOP2B_26459242_ChIP-Seq_MCF-7_Human1.14937247
130SMAD4_21741376_ChIP-Seq_EPCs_Human1.14226649
131* SUZ12_18555785_Chip-Seq_ESCs_Mouse1.13610293
132* STAT3_18555785_Chip-Seq_ESCs_Mouse1.13549756
133FOXA1_21572438_ChIP-Seq_LNCaP_Human1.11879983
134FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.11550674
135* CMYC_18555785_Chip-Seq_ESCs_Mouse1.10319567
136FLI1_21867929_ChIP-Seq_TH2_Mouse1.10275997
137FOXA1_27270436_Chip-Seq_PROSTATE_Human1.10260227
138FOXA1_25329375_ChIP-Seq_VCAP_Human1.10260227
139PADI4_21655091_ChIP-ChIP_MCF-7_Human1.09729677
140* P300_18555785_Chip-Seq_ESCs_Mouse1.08616437
141STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.07755703
142* RUNX2_22187159_ChIP-Seq_PCA_Human1.07674866
143* OCT4_21477851_ChIP-Seq_ESCs_Mouse1.05636084
144* SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.04145099
145AHR_22903824_ChIP-Seq_MCF-7_Human1.03465816
146TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.03174914
147* SOX2_18555785_Chip-Seq_ESCs_Mouse1.02861785
148E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.02631626
149E2F4_17652178_ChIP-ChIP_JURKAT_Human1.02349648
150* ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.02313064
151CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.01282911
152ARNT_22903824_ChIP-Seq_MCF-7_Human1.01222227
153GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse0.99977230
154KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.99795511
155ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.99451540
156STAT4_19710469_ChIP-ChIP_TH1__Mouse0.99375706
157* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.98160525
158TFEB_21752829_ChIP-Seq_HELA_Human0.96780851
159FOXA2_19822575_ChIP-Seq_HepG2_Human0.95248704
160ESR1_15608294_ChIP-ChIP_MCF-7_Human0.92251801
161CJUN_26792858_Chip-Seq_BT549_Human0.91215553
162TCF3_18692474_ChIP-Seq_MEFs_Mouse0.91093927
163* ATF3_27146783_Chip-Seq_COLON_Human0.90711369
164EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.89988850
165ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.89783741
166NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.89167766
167NRF2_20460467_ChIP-Seq_MEFs_Mouse0.89167766
168ESR2_21235772_ChIP-Seq_MCF-7_Human0.86701659
169ZNF263_19887448_ChIP-Seq_K562_Human0.86131013
170GATA3_24758297_ChIP-Seq_MCF-7_Human0.85585493
171NANOG_18700969_ChIP-ChIP_MESCs_Mouse0.84721425
172JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.83772656
173* HNF4A_19822575_ChIP-Seq_HepG2_Human0.83606407
174SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.83604383
175POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.83487025
176* PU_27001747_Chip-Seq_BMDM_Mouse0.82546294
177UBF1/2_26484160_Chip-Seq_HMECs_Human0.82307171
178MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.81838335
179PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.81360663
180TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.81112300
181P63_26484246_Chip-Seq_KERATINOCYTES_Human0.80777922
182ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.80194291
183MYB_26560356_Chip-Seq_TH1_Human0.79772727
184GATA2_21666600_ChIP-Seq_HMVEC_Human0.79324469
185* ELK3_25401928_ChIP-Seq_HUVEC_Human0.79245561
186NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.78833518
187CDX2_20551321_ChIP-Seq_CACO-2_Human0.78739299
188BRD4_25478319_ChIP-Seq_HGPS_Human0.78404668
189PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.78342655
190JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.77224420
191FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.76688695
192MYB_26560356_Chip-Seq_TH2_Human0.73347806
193FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.72905631

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis4.35602294
2MP0002139_abnormal_hepatobiliary_system4.32706409
3MP0000569_abnormal_digit_pigmentation3.57640815
4MP0005085_abnormal_gallbladder_physiolo2.92835227
5MP0005365_abnormal_bile_salt2.85958083
6MP0003806_abnormal_nucleotide_metabolis2.72455376
7MP0002837_dystrophic_cardiac_calcinosis2.59579810
8MP0009840_abnormal_foam_cell2.59098037
9MP0000372_irregular_coat_pigmentation2.54392807
10MP0003705_abnormal_hypodermis_morpholog2.50576301
11MP0002938_white_spotting2.42003498
12MP0008438_abnormal_cutaneous_collagen2.41174179
13MP0005174_abnormal_tail_pigmentation2.40588665
14MP0003252_abnormal_bile_duct2.40172438
15MP0008875_abnormal_xenobiotic_pharmacok2.32160045
16MP0000427_abnormal_hair_cycle2.18938272
17MP0002102_abnormal_ear_morphology2.15341601
18MP0008877_abnormal_DNA_methylation2.14939054
19MP0008057_abnormal_DNA_replication2.11640004
20MP0003136_yellow_coat_color2.05135828
21MP0002138_abnormal_hepatobiliary_system1.98771487
22MP0001666_abnormal_nutrient_absorption1.95540644
23MP0002876_abnormal_thyroid_physiology1.88684063
24MP0005551_abnormal_eye_electrophysiolog1.88675877
25MP0005171_absent_coat_pigmentation1.86168756
26MP0010329_abnormal_lipoprotein_level1.83649284
27MP0003195_calcinosis1.82170569
28MP0003950_abnormal_plasma_membrane1.81975500
29MP0009780_abnormal_chondrocyte_physiolo1.75908877
30MP0010352_gastrointestinal_tract_polyps1.74710623
31MP0003718_maternal_effect1.73254104
32MP0003191_abnormal_cellular_cholesterol1.71148193
33MP0010234_abnormal_vibrissa_follicle1.68933822
34MP0006072_abnormal_retinal_apoptosis1.65995936
35MP0005083_abnormal_biliary_tract1.64472488
36MP0002254_reproductive_system_inflammat1.63165037
37MP0000015_abnormal_ear_pigmentation1.61603037
38MP0003436_decreased_susceptibility_to1.59508614
39MP0000516_abnormal_urinary_system1.59380672
40MP0005367_renal/urinary_system_phenotyp1.59380672
41MP0005253_abnormal_eye_physiology1.59257823
42MP0004043_abnormal_pH_regulation1.57247749
43MP0004147_increased_porphyrin_level1.56040771
44MP0006054_spinal_hemorrhage1.55343602
45MP0003646_muscle_fatigue1.54911789
46MP0003566_abnormal_cell_adhesion1.54356612
47MP0003890_abnormal_embryonic-extraembry1.50706311
48MP0000609_abnormal_liver_physiology1.49211316
49MP0003453_abnormal_keratinocyte_physiol1.48627623
50MP0002638_abnormal_pupillary_reflex1.48071380
51MP0000647_abnormal_sebaceous_gland1.44234473
52MP0009046_muscle_twitch1.44232673
53MP0003724_increased_susceptibility_to1.41635145
54MP0005275_abnormal_skin_tensile1.41187282
55MP0004264_abnormal_extraembryonic_tissu1.39958234
56MP0002160_abnormal_reproductive_system1.39123022
57MP0003300_gastrointestinal_ulcer1.38855298
58MP0002095_abnormal_skin_pigmentation1.36710556
59MP0009785_altered_susceptibility_to1.35766904
60MP0002877_abnormal_melanocyte_morpholog1.35752924
61MP0001485_abnormal_pinna_reflex1.35461634
62MP0003786_premature_aging1.34609064
63MP0005023_abnormal_wound_healing1.34297484
64MP0003186_abnormal_redox_activity1.33598230
65MP0008058_abnormal_DNA_repair1.31812260
66MP0005187_abnormal_penis_morphology1.31704182
67MP0005058_abnormal_lysosome_morphology1.30683359
68MP0005332_abnormal_amino_acid1.29467228
69MP0001835_abnormal_antigen_presentation1.28509247
70MP0004947_skin_inflammation1.26583445
71MP0005379_endocrine/exocrine_gland_phen1.24314377
72MP0005075_abnormal_melanosome_morpholog1.23634552
73MP0006082_CNS_inflammation1.23262572
74MP0000538_abnormal_urinary_bladder1.22727736
75MP0005646_abnormal_pituitary_gland1.21776580
76MP0005076_abnormal_cell_differentiation1.21341421
77MP0005408_hypopigmentation1.21258496
78MP0000685_abnormal_immune_system1.19881124
79MP0005395_other_phenotype1.19163693
80MP0004019_abnormal_vitamin_homeostasis1.19048730
81MP0003787_abnormal_imprinting1.18837157
82MP0003937_abnormal_limbs/digits/tail_de1.18342931
83MP0010386_abnormal_urinary_bladder1.16008278
84MP0001324_abnormal_eye_pigmentation1.14202274
85MP0009053_abnormal_anal_canal1.13458326
86MP0005319_abnormal_enzyme/_coenzyme1.12341830
87MP0008872_abnormal_physiological_respon1.12329016
88MP0004215_abnormal_myocardial_fiber1.09667432
89MP0002060_abnormal_skin_morphology1.09187618
90MP0010678_abnormal_skin_adnexa1.08591038
91MP0009643_abnormal_urine_homeostasis1.08487486
92MP0004272_abnormal_basement_membrane1.08129512
93MP0001533_abnormal_skeleton_physiology1.08008749
94MP0000371_diluted_coat_color1.07399770
95MP0002928_abnormal_bile_duct1.06990612
96MP0005645_abnormal_hypothalamus_physiol1.06870598
97MP0002118_abnormal_lipid_homeostasis1.05505057
98MP0000598_abnormal_liver_morphology1.04904374
99MP0008469_abnormal_protein_level1.04322538
100MP0002909_abnormal_adrenal_gland1.01723903
101MP0002090_abnormal_vision1.01132164
102MP0008775_abnormal_heart_ventricle1.01125484
103MP0005084_abnormal_gallbladder_morpholo1.00775397
104MP0002148_abnormal_hypersensitivity_rea0.99280930
105MP0003283_abnormal_digestive_organ0.99246429
106MP0002168_other_aberrant_phenotype0.99063988
107MP0005389_reproductive_system_phenotype0.98815749
108MP0010307_abnormal_tumor_latency0.98083638
109MP0005220_abnormal_exocrine_pancreas0.97476570
110MP0009764_decreased_sensitivity_to0.96492585
111MP0003091_abnormal_cell_migration0.95586606
112MP0009384_cardiac_valve_regurgitation0.95438309
113MP0001661_extended_life_span0.95425837
114MP0001790_abnormal_immune_system0.94620308
115MP0005387_immune_system_phenotype0.94620308
116MP0005025_abnormal_response_to0.94588217
117MP0009763_increased_sensitivity_to0.93848408
118MP0000383_abnormal_hair_follicle0.93563417
119MP0010094_abnormal_chromosome_stability0.93405969
120MP0002751_abnormal_autonomic_nervous0.93187650
121MP0001853_heart_inflammation0.93068678
122MP0004142_abnormal_muscle_tone0.93033373
123MP0000631_abnormal_neuroendocrine_gland0.92952892
124MP0001944_abnormal_pancreas_morphology0.92807879
125MP0002234_abnormal_pharynx_morphology0.91798693
126MP0002419_abnormal_innate_immunity0.91752926
127MP0010155_abnormal_intestine_physiology0.91226980
128MP0001243_abnormal_dermal_layer0.88720042
129MP0002166_altered_tumor_susceptibility0.87797560
130MP0001501_abnormal_sleep_pattern0.86748919
131MP0004185_abnormal_adipocyte_glucose0.86724261
132MP0005386_behavior/neurological_phenoty0.84858894
133MP0004924_abnormal_behavior0.84858894
134MP0002163_abnormal_gland_morphology0.84355814
135MP0001881_abnormal_mammary_gland0.84238442
136MP0001756_abnormal_urination0.83855261
137MP0001845_abnormal_inflammatory_respons0.83221580
138MP0009697_abnormal_copulation0.83048156
139MP0003303_peritoneal_inflammation0.82558463
140MP0008995_early_reproductive_senescence0.82227999
141MP0002796_impaired_skin_barrier0.82205384
142MP0001216_abnormal_epidermal_layer0.81605932
143MP0005000_abnormal_immune_tolerance0.80779076
144MP0000613_abnormal_salivary_gland0.79861635
145MP0003011_delayed_dark_adaptation0.79429548
146MP0003119_abnormal_digestive_system0.78458014
147MP0003943_abnormal_hepatobiliary_system0.78312601
148MP0003448_altered_tumor_morphology0.78024588
149MP0004133_heterotaxia0.75344109
150MP0003656_abnormal_erythrocyte_physiolo0.74983009
151MP0002693_abnormal_pancreas_physiology0.74674568
152MP0001929_abnormal_gametogenesis0.72693525
153MP0001984_abnormal_olfaction0.72618804
154MP0002098_abnormal_vibrissa_morphology0.72097502
155MP0001915_intracranial_hemorrhage0.72028664
156MP0002006_tumorigenesis0.71472878
157MP0005164_abnormal_response_to0.71176467
158MP0005584_abnormal_enzyme/coenzyme_acti0.70882456
159MP0000627_abnormal_mammary_gland0.70790187
160MP0000858_altered_metastatic_potential0.69925548
161MP0009745_abnormal_behavioral_response0.69013037
162MP0002136_abnormal_kidney_physiology0.68867695
163MP0005257_abnormal_intraocular_pressure0.67577961
164MP0008961_abnormal_basal_metabolism0.67298506
165MP0004782_abnormal_surfactant_physiolog0.67170494
166MP0005195_abnormal_posterior_eye0.67153007
167MP0000604_amyloidosis0.67095041
168MP0005464_abnormal_platelet_physiology0.66581201
169MP0005390_skeleton_phenotype0.65854039
170MP0002452_abnormal_antigen_presenting0.65655687
171MP0000377_abnormal_hair_follicle0.65596818
172MP0002723_abnormal_immune_serum0.63999303
173MP0003941_abnormal_skin_development0.63835020
174MP0005503_abnormal_tendon_morphology0.62443648
175MP0001958_emphysema0.61973927
176MP0003868_abnormal_feces_composition0.61047432
177MP0001800_abnormal_humoral_immune0.60068072
178MP0000249_abnormal_blood_vessel0.60037907
179MP0002896_abnormal_bone_mineralization0.60023631
180MP0005248_abnormal_Harderian_gland0.59645963

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)4.77748640
2Abnormality of monocarboxylic acid metabolism (HP:0010996)4.49660953
3Hypobetalipoproteinemia (HP:0003563)4.41728698
4Xanthomatosis (HP:0000991)4.20330475
5Deep venous thrombosis (HP:0002625)4.15537335
6Pancreatic cysts (HP:0001737)3.99076987
7Abnormality of aromatic amino acid family metabolism (HP:0004338)3.86182603
8Abnormality of glutamine family amino acid metabolism (HP:0010902)3.76503244
9Autoimmune thrombocytopenia (HP:0001973)3.55999868
10Pancreatic fibrosis (HP:0100732)3.45935470
11Hypolipoproteinemia (HP:0010981)3.40233563
12Molar tooth sign on MRI (HP:0002419)3.35621551
13Abnormality of midbrain morphology (HP:0002418)3.35621551
14Myocardial infarction (HP:0001658)3.32339533
15True hermaphroditism (HP:0010459)3.28101652
16Large for gestational age (HP:0001520)3.26892967
17Hypothermia (HP:0002045)3.26765781
18Abnormality of the common coagulation pathway (HP:0010990)3.23322744
19Epidermoid cyst (HP:0200040)3.22350842
20Prolonged partial thromboplastin time (HP:0003645)3.17525529
21Complement deficiency (HP:0004431)3.15609179
22Fat malabsorption (HP:0002630)3.08563096
23Systemic lupus erythematosus (HP:0002725)3.07904902
24Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.05143525
25Hydroxyprolinuria (HP:0003080)3.03823433
26Abnormality of proline metabolism (HP:0010907)3.03823433
27Hypoglycemic coma (HP:0001325)3.03030096
28Abnormality of the renal cortex (HP:0011035)2.98556369
29Congenital stationary night blindness (HP:0007642)2.92477403
30Esophageal varix (HP:0002040)2.91690692
31Fair hair (HP:0002286)2.88957337
32Abnormality of the intrinsic pathway (HP:0010989)2.86901193
33Abnormality of sulfur amino acid metabolism (HP:0004339)2.84398870
34Nephronophthisis (HP:0000090)2.80786586
35Hyperventilation (HP:0002883)2.80150010
36Hypoalphalipoproteinemia (HP:0003233)2.79758389
37Osteolytic defects of the hand bones (HP:0009699)2.78542374
38Osteolytic defects of the phalanges of the hand (HP:0009771)2.78542374
39Furrowed tongue (HP:0000221)2.61205999
40Premature rupture of membranes (HP:0001788)2.60360729
41Abnormality of the renal medulla (HP:0100957)2.59126045
42Hamartoma of the eye (HP:0010568)2.59113731
43Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.58174857
44Abnormality of alanine metabolism (HP:0010916)2.58174857
45Hyperalaninemia (HP:0003348)2.58174857
46Abnormality of complement system (HP:0005339)2.57935616
47Ketoacidosis (HP:0001993)2.55529099
48Peritonitis (HP:0002586)2.53751065
49Gaze-evoked nystagmus (HP:0000640)2.51301281
50Joint hemorrhage (HP:0005261)2.48517122
51Hyperlipoproteinemia (HP:0010980)2.47447905
52Neoplasm of the adrenal cortex (HP:0100641)2.45916831
53Hypercholesterolemia (HP:0003124)2.45852433
54Hepatocellular carcinoma (HP:0001402)2.45216465
55Spastic diplegia (HP:0001264)2.44125192
56Hyperammonemia (HP:0001987)2.44011973
57Recurrent gram-negative bacterial infections (HP:0005420)2.41439235
58Birth length less than 3rd percentile (HP:0003561)2.40946499
59Tetraparesis (HP:0002273)2.37529406
60Abnormality of aspartate family amino acid metabolism (HP:0010899)2.37234377
61Generalized hypopigmentation of hair (HP:0011358)2.36899387
62Tubular atrophy (HP:0000092)2.36896092
63Aplasia/Hypoplasia of the tibia (HP:0005772)2.35060724
64Congenital sensorineural hearing impairment (HP:0008527)2.32922715
65Hemorrhage of the eye (HP:0011885)2.31285930
66Right ventricular cardiomyopathy (HP:0011663)2.30928812
67Congenital, generalized hypertrichosis (HP:0004540)2.29933028
68Abnormality of purine metabolism (HP:0004352)2.29814037
69Conjugated hyperbilirubinemia (HP:0002908)2.28842407
70Cardiovascular calcification (HP:0011915)2.27887790
71Hypoplasia of the fovea (HP:0007750)2.27276111
72Aplasia/Hypoplasia of the fovea (HP:0008060)2.27276111
73Chronic hepatic failure (HP:0100626)2.27188646
74Vacuolated lymphocytes (HP:0001922)2.26204869
75Progressive inability to walk (HP:0002505)2.26118486
76Gingival bleeding (HP:0000225)2.23324952
77Abnormality of nucleobase metabolism (HP:0010932)2.22958760
78Skin nodule (HP:0200036)2.22638232
79Abnormality of methionine metabolism (HP:0010901)2.21550217
80Medial flaring of the eyebrow (HP:0010747)2.20927458
81Acanthocytosis (HP:0001927)2.20456020
82Vascular calcification (HP:0004934)2.19913315
83Steatorrhea (HP:0002570)2.19394609
84Abnormality of vitamin B metabolism (HP:0004340)2.19136329
85Attenuation of retinal blood vessels (HP:0007843)2.19057846
86Aplasia/Hypoplasia of the tongue (HP:0010295)2.18030919
87Type II lissencephaly (HP:0007260)2.16216664
88Renal cortical cysts (HP:0000803)2.16155006
89Aplasia/Hypoplasia of the uvula (HP:0010293)2.15676132
90Intestinal atresia (HP:0011100)2.13052182
91Methylmalonic acidemia (HP:0002912)2.12507701
92Pheochromocytoma (HP:0002666)2.10439248
93Disproportionate short-trunk short stature (HP:0003521)2.10066833
94Hypoglycemic seizures (HP:0002173)2.10043703
95Abnormality of pyrimidine metabolism (HP:0004353)2.09248205
96Conjunctival hamartoma (HP:0100780)2.08885610
97Abnormal cartilage morphology (HP:0002763)2.08737384
98Abnormality of glycine metabolism (HP:0010895)2.08552910
99Abnormality of serine family amino acid metabolism (HP:0010894)2.08552910
100Cervical subluxation (HP:0003308)2.07169062
101Neoplasm of the adrenal gland (HP:0100631)2.06931827
102Protrusio acetabuli (HP:0003179)2.06487352
103Hyperglycinuria (HP:0003108)2.06391356
104Albinism (HP:0001022)2.05007886
105Abnormality of chromosome stability (HP:0003220)2.04895393
106Cystic liver disease (HP:0006706)2.03465489
107Hypoplastic labia majora (HP:0000059)2.02109242
108Nephritis (HP:0000123)2.01612403
109Abnormality of transition element cation homeostasis (HP:0011030)2.00201062
110Abnormality of the pons (HP:0007361)1.99164431
111Thyroiditis (HP:0100646)1.98915563
112Increased mean platelet volume (HP:0011877)1.98856579
113Hematochezia (HP:0002573)1.98530932
114Sclerocornea (HP:0000647)1.98264574
115Neuroendocrine neoplasm (HP:0100634)1.97837714
116Nausea (HP:0002018)1.97562515
117Meningioma (HP:0002858)1.97352977
118Hyperglycinemia (HP:0002154)1.97085694
119Chorioretinal atrophy (HP:0000533)1.96209628
120Abnormal enzyme/coenzyme activity (HP:0012379)1.94666025
121Ketosis (HP:0001946)1.94567327
122Chromosomal breakage induced by crosslinking agents (HP:0003221)1.92967989
123Eczematoid dermatitis (HP:0000976)1.92487861
124Glioma (HP:0009733)1.92373672
125Cerebellar dysplasia (HP:0007033)1.91764845
126Polydipsia (HP:0001959)1.91744034
127Abnormal drinking behavior (HP:0030082)1.91744034
128Bile duct proliferation (HP:0001408)1.91669197
129Abnormal biliary tract physiology (HP:0012439)1.91669197
130Abnormality of the fovea (HP:0000493)1.89963133
131Inability to walk (HP:0002540)1.89887722
132Abolished electroretinogram (ERG) (HP:0000550)1.88030916
133Abnormality of iron homeostasis (HP:0011031)1.87480633
134Abnormality of the labia majora (HP:0012881)1.87373819
135Cupped ribs (HP:0000887)1.87340296
136Methylmalonic aciduria (HP:0012120)1.87133789
137Chromsome breakage (HP:0040012)1.86963260
138Mitral stenosis (HP:0001718)1.86829571
139Increased corneal curvature (HP:0100692)1.85833028
140Keratoconus (HP:0000563)1.85833028
141Axonal loss (HP:0003447)1.85599805
142Male pseudohermaphroditism (HP:0000037)1.84984486
143Vertebral compression fractures (HP:0002953)1.83764304
144Progressive macrocephaly (HP:0004481)1.82330643
145Glomerulonephritis (HP:0000099)1.82103762
146Abnormality of the ileum (HP:0001549)1.81869766
147Abnormality of fatty-acid metabolism (HP:0004359)1.81265695
148Meckel diverticulum (HP:0002245)1.81217269
149Abnormality of alkaline phosphatase activity (HP:0004379)1.79870045
150Hypoplasia of the pons (HP:0012110)1.78292368
151Elevated alkaline phosphatase (HP:0003155)1.78131153
152Astrocytoma (HP:0009592)1.77920665
153Abnormality of the astrocytes (HP:0100707)1.77920665
154Protruding tongue (HP:0010808)1.76795162
155Breast carcinoma (HP:0003002)1.76730812
156Congenital hepatic fibrosis (HP:0002612)1.76432272
157Hyperbilirubinemia (HP:0002904)1.76022403
158Hypomagnesemia (HP:0002917)1.75888306
159Patchy hypopigmentation of hair (HP:0011365)1.75781922
160Abnormality of macrophages (HP:0004311)1.75485903
161Thrombophlebitis (HP:0004418)1.74566657
162Abnormality of the vasculature of the conjunctiva (HP:0008054)1.74560787
163Malnutrition (HP:0004395)1.74544578
164Abnormality of the vitamin B12 metabolism (HP:0004341)1.74075886
165Pancreatic islet-cell hyperplasia (HP:0004510)1.73520650
166Metaphyseal cupping (HP:0003021)1.73452961
167Protuberant abdomen (HP:0001538)1.73191544
168Abnormal pancreas size (HP:0012094)1.73046898
169Spontaneous abortion (HP:0005268)1.72721862
170Sloping forehead (HP:0000340)1.71916841
171Hyperglycemia (HP:0003074)1.71856867
172Increased CSF lactate (HP:0002490)1.71501294
173Increased serum ferritin (HP:0003281)1.70936734
174Abnormal platelet volume (HP:0011876)1.70400952
175Clubbing of toes (HP:0100760)1.70330047
176Hyperinsulinemic hypoglycemia (HP:0000825)1.69824977
177Hemiparesis (HP:0001269)1.69493168
178Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.69293563
179Micronodular cirrhosis (HP:0001413)1.69292129
180Colon cancer (HP:0003003)1.68939673
181Small hand (HP:0200055)1.68741770
182Abdominal distention (HP:0003270)1.68739391
183Acute encephalopathy (HP:0006846)1.68000222
184Pathologic fracture (HP:0002756)1.67301880
185Nonimmune hydrops fetalis (HP:0001790)1.66686429
186Back pain (HP:0003418)1.65387132
187Autoimmune hemolytic anemia (HP:0001890)1.61055539
188Ileus (HP:0002595)1.60528520
189Reticulocytosis (HP:0001923)1.59779003
190Ectopia lentis (HP:0001083)1.59612662
191Interstitial pulmonary disease (HP:0006530)1.59560775

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BMPR1B3.65233614
2ERN12.82896687
3FGFR42.66465523
4TYK22.49309466
5MAP3K142.46026831
6MKNK22.37112861
7TBK12.34187133
8LATS12.22266124
9PBK2.21616510
10WNK32.20546644
11TRIM282.13763583
12ZAK2.13669874
13GRK12.01554023
14TNIK2.01159164
15EPHA22.00230670
16PTK61.99705664
17EIF2AK31.99286594
18MET1.93285544
19EPHB11.92280954
20STK391.90673127
21JAK31.90504763
22NEK91.90284214
23EPHA31.80807613
24ADRBK21.80758854
25MST41.79587487
26FRK1.78681920
27TRIB31.73672952
28WEE11.69384352
29SIK11.67694851
30MST1R1.67255203
31AKT31.58997124
32PLK21.56496823
33OXSR11.55391329
34PKN21.52931402
35BCKDK1.51754598
36MAP3K31.51535106
37JAK11.43209514
38IKBKE1.43117332
39STK101.42638262
40FLT31.41274328
41TAOK31.40876833
42RPS6KA41.40864727
43ERBB41.39893141
44MAP4K21.38950016
45STK31.36662485
46PLK31.35592695
47IKBKB1.33704403
48CASK1.33678497
49CHUK1.29298162
50CDK121.28460046
51WNK41.27708731
52PDGFRA1.26853015
53PAK31.26238876
54CDK61.25885048
55PNCK1.23840293
56BMX1.23775858
57MAP3K101.23493221
58MKNK11.21679180
59NLK1.17586042
60PINK11.17439352
61DDR21.16907250
62LRRK21.15963195
63FGFR31.11118995
64EIF2AK11.10218829
65PIM21.07081881
66TSSK61.06488897
67BUB11.04928836
68PDK21.03364281
69BRSK21.02523031
70TESK11.01528273
71TRPM71.00695583
72ADRBK11.00359789
73SCYL21.00029401
74MAP2K30.98750138
75IRAK30.98038443
76CSNK1G10.94639211
77PRKCE0.91358720
78PLK40.90695238
79PTK20.90576917
80TTN0.90146651
81TGFBR20.88666756
82DYRK1B0.87414844
83TGFBR10.85428352
84CSK0.84229108
85MAP3K120.83734135
86ABL20.81481089
87MAPK130.81258732
88PASK0.81232538
89TLK10.80922240
90RIPK10.80258460
91JAK20.79983553
92NUAK10.79913389
93MAP3K20.79857394
94MAP3K80.79199750
95BCR0.78668289
96PIM10.78651128
97MAP3K40.77689684
98FER0.74449394
99RPS6KB20.74307063
100CSNK1A1L0.73527145
101IRAK40.72585977
102INSRR0.71848721
103PDGFRB0.71543646
104PAK40.71053719
105STK40.70862032
106NEK10.70521178
107TIE10.70349234
108CAMKK20.69431826
109PTK2B0.69341461
110TAF10.68687289
111ACVR1B0.67227523
112CSNK1G20.67205929
113MELK0.66692091
114STK240.66382145
115MTOR0.66178128
116MAP3K50.65210822
117PLK10.62113948
118MAPK110.62011634
119CSNK1G30.61931055
120VRK10.61385547
121GSK3A0.61072848
122FGFR10.60026154
123KIT0.59864784
124PHKG20.58663309
125PHKG10.58663309
126CDK40.58310998
127PRKAA20.57891236
128IRAK10.56847562
129STK38L0.56800139
130PRKCI0.56122069
131KDR0.55685207
132ERBB20.54575616
133MAP2K20.54344684
134EGFR0.53961482
135FGFR20.52452326
136PIK3CG0.52356003
137PRKCG0.51525293
138PIK3CA0.51117568
139TESK20.50655993
140DAPK20.50321635
141CAMK1D0.49776885
142CAMK1G0.49607737
143TTK0.49244715
144ZAP700.49017526
145MUSK0.47726847
146NTRK30.47231054
147MAP2K10.47142897
148LIMK10.46937342
149ERBB30.46436975
150PAK20.44974003
151MAPKAPK50.43868488
152ABL10.43456297
153MARK30.42211734
154EIF2AK20.41511096
155ATM0.40680123
156EPHB20.39255160
157BRSK10.39214309
158MAPKAPK30.38852094
159RPS6KA50.38724787
160TEC0.38366956
161BLK0.37083707
162MAPKAPK20.36604369
163NME20.35448741
164PRKAA10.35374148
165CHEK20.34242355
166CSNK1D0.31125365
167CAMK2A0.27356118
168CSNK1A10.27189488
169STK160.26051143
170BRD40.24982879
171ATR0.24815325

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001202.90670766
2Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.63287602
3Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.58168397
4Nitrogen metabolism_Homo sapiens_hsa009102.52303972
5Protein export_Homo sapiens_hsa030602.49594023
6Caffeine metabolism_Homo sapiens_hsa002322.32684887
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.31641767
8Complement and coagulation cascades_Homo sapiens_hsa046102.19427213
9Tryptophan metabolism_Homo sapiens_hsa003802.04128809
10Pentose and glucuronate interconversions_Homo sapiens_hsa000402.03159255
11Homologous recombination_Homo sapiens_hsa034402.02091143
12Arginine biosynthesis_Homo sapiens_hsa002202.01741949
13Staphylococcus aureus infection_Homo sapiens_hsa051501.89158195
14Linoleic acid metabolism_Homo sapiens_hsa005911.83706799
15Histidine metabolism_Homo sapiens_hsa003401.78692065
16Selenocompound metabolism_Homo sapiens_hsa004501.76573847
17Fatty acid degradation_Homo sapiens_hsa000711.75369957
18Non-homologous end-joining_Homo sapiens_hsa034501.75339926
19Fanconi anemia pathway_Homo sapiens_hsa034601.74551138
20Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.74425985
21Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.73824648
22Vitamin B6 metabolism_Homo sapiens_hsa007501.73676588
23Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.73227270
24Basal transcription factors_Homo sapiens_hsa030221.66422495
25Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.64887681
26RNA polymerase_Homo sapiens_hsa030201.61723957
27alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.60710236
28Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.60100057
29Phototransduction_Homo sapiens_hsa047441.58064299
30Fat digestion and absorption_Homo sapiens_hsa049751.56026583
31Sulfur metabolism_Homo sapiens_hsa009201.55242856
32Folate biosynthesis_Homo sapiens_hsa007901.52378738
33Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.52108447
34PPAR signaling pathway_Homo sapiens_hsa033201.48764934
35Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.48398238
36Chemical carcinogenesis_Homo sapiens_hsa052041.48357415
37Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.47822856
38Steroid biosynthesis_Homo sapiens_hsa001001.47214288
39Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.46839481
40Ether lipid metabolism_Homo sapiens_hsa005651.42864831
41Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.42562528
42Peroxisome_Homo sapiens_hsa041461.37683306
43Maturity onset diabetes of the young_Homo sapiens_hsa049501.37238816
44Proteasome_Homo sapiens_hsa030501.35964276
45Vitamin digestion and absorption_Homo sapiens_hsa049771.30245554
46Drug metabolism - other enzymes_Homo sapiens_hsa009831.29493571
47One carbon pool by folate_Homo sapiens_hsa006701.29181950
48Phenylalanine metabolism_Homo sapiens_hsa003601.26668341
49Steroid hormone biosynthesis_Homo sapiens_hsa001401.26618365
50Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.26585426
51Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.25514158
52Oxidative phosphorylation_Homo sapiens_hsa001901.24032273
53Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.22049814
54Starch and sucrose metabolism_Homo sapiens_hsa005001.20439559
55Retinol metabolism_Homo sapiens_hsa008301.17153273
56Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.13640724
57RNA degradation_Homo sapiens_hsa030181.11598073
58Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.08098710
59Tyrosine metabolism_Homo sapiens_hsa003501.07506555
60Legionellosis_Homo sapiens_hsa051341.06873428
61Fatty acid metabolism_Homo sapiens_hsa012121.06265427
62Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.00618510
63Toll-like receptor signaling pathway_Homo sapiens_hsa046200.99303892
64Sphingolipid metabolism_Homo sapiens_hsa006000.99146941
65beta-Alanine metabolism_Homo sapiens_hsa004100.97992659
66NF-kappa B signaling pathway_Homo sapiens_hsa040640.97666591
67Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.94638438
68Glutathione metabolism_Homo sapiens_hsa004800.94351021
69Circadian rhythm_Homo sapiens_hsa047100.89004498
70Leishmaniasis_Homo sapiens_hsa051400.88856294
71Propanoate metabolism_Homo sapiens_hsa006400.87713806
72Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.86701055
73Arginine and proline metabolism_Homo sapiens_hsa003300.86206732
74ABC transporters_Homo sapiens_hsa020100.85329644
75Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.85315076
76RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.85309842
77Malaria_Homo sapiens_hsa051440.83822529
78Bile secretion_Homo sapiens_hsa049760.80907574
79Regulation of autophagy_Homo sapiens_hsa041400.80074640
80Antigen processing and presentation_Homo sapiens_hsa046120.79384180
81Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.77458275
82Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.77367315
83Insulin secretion_Homo sapiens_hsa049110.74905689
84Graft-versus-host disease_Homo sapiens_hsa053320.74840721
85Allograft rejection_Homo sapiens_hsa053300.74686590
86Metabolic pathways_Homo sapiens_hsa011000.73950275
87Measles_Homo sapiens_hsa051620.72919659
88Parkinsons disease_Homo sapiens_hsa050120.72811757
89Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.72552951
90Biosynthesis of amino acids_Homo sapiens_hsa012300.72403559
91TNF signaling pathway_Homo sapiens_hsa046680.72029839
92Pertussis_Homo sapiens_hsa051330.71575021
93Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.71490677
94Influenza A_Homo sapiens_hsa051640.71244413
95Carbon metabolism_Homo sapiens_hsa012000.70813524
96Renin-angiotensin system_Homo sapiens_hsa046140.70645338
97Hepatitis C_Homo sapiens_hsa051600.69690522
982-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.69689332
99Toxoplasmosis_Homo sapiens_hsa051450.69086737
100TGF-beta signaling pathway_Homo sapiens_hsa043500.68893396
101Ovarian steroidogenesis_Homo sapiens_hsa049130.68421450
102Herpes simplex infection_Homo sapiens_hsa051680.68284270
103Butanoate metabolism_Homo sapiens_hsa006500.67897095
104Lysine degradation_Homo sapiens_hsa003100.67665178
105Intestinal immune network for IgA production_Homo sapiens_hsa046720.67486577
106Arachidonic acid metabolism_Homo sapiens_hsa005900.67417878
107Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.67375431
108NOD-like receptor signaling pathway_Homo sapiens_hsa046210.67334599
109Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.66322082
110Fatty acid elongation_Homo sapiens_hsa000620.65980040
111Purine metabolism_Homo sapiens_hsa002300.65592758
112Small cell lung cancer_Homo sapiens_hsa052220.65540014
113Pentose phosphate pathway_Homo sapiens_hsa000300.65207827
114Galactose metabolism_Homo sapiens_hsa000520.65155408
115Lysosome_Homo sapiens_hsa041420.64937928
116Cysteine and methionine metabolism_Homo sapiens_hsa002700.64792146
117Glycerolipid metabolism_Homo sapiens_hsa005610.64292065
118p53 signaling pathway_Homo sapiens_hsa041150.63745504
119Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.58560148
120ECM-receptor interaction_Homo sapiens_hsa045120.58458828
121Dorso-ventral axis formation_Homo sapiens_hsa043200.58070766
122Pyruvate metabolism_Homo sapiens_hsa006200.55936042
123Apoptosis_Homo sapiens_hsa042100.55562136
124Huntingtons disease_Homo sapiens_hsa050160.55174535
125Adipocytokine signaling pathway_Homo sapiens_hsa049200.53584119
126Collecting duct acid secretion_Homo sapiens_hsa049660.53071033
127Amoebiasis_Homo sapiens_hsa051460.52713661
128Insulin resistance_Homo sapiens_hsa049310.52598883
129Taste transduction_Homo sapiens_hsa047420.52219129
130Glycosaminoglycan degradation_Homo sapiens_hsa005310.51228983
131Mismatch repair_Homo sapiens_hsa034300.49350611
132RNA transport_Homo sapiens_hsa030130.48755006
133Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.48700881
134Serotonergic synapse_Homo sapiens_hsa047260.48570057
135Nucleotide excision repair_Homo sapiens_hsa034200.48557572
136Alzheimers disease_Homo sapiens_hsa050100.46871521
137Prion diseases_Homo sapiens_hsa050200.46104876
138Pyrimidine metabolism_Homo sapiens_hsa002400.45748495
139Adherens junction_Homo sapiens_hsa045200.45601899
140Hippo signaling pathway_Homo sapiens_hsa043900.45563168
141Mineral absorption_Homo sapiens_hsa049780.43771146
142Olfactory transduction_Homo sapiens_hsa047400.43458798
143Nicotine addiction_Homo sapiens_hsa050330.43180276
144N-Glycan biosynthesis_Homo sapiens_hsa005100.42634157
145Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.42595799
146Bladder cancer_Homo sapiens_hsa052190.42266575
147Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.40597295
148Osteoclast differentiation_Homo sapiens_hsa043800.40563895
149Shigellosis_Homo sapiens_hsa051310.40226951
150Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.39638941
151Proteoglycans in cancer_Homo sapiens_hsa052050.39502165
152Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.39415854
153Leukocyte transendothelial migration_Homo sapiens_hsa046700.36564627

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