DERL2

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: Proteins that are unfolded or misfolded in the endoplasmic reticulum (ER) must be refolded or degraded to maintain the homeostasis of the ER. DERL2 is involved in the degradation of misfolded glycoproteins in the ER (Oda et al., 2006 [PubMed 16449189]). NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine catabolic process (GO:0006559)6.36947829
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)6.36947829
3L-phenylalanine metabolic process (GO:0006558)6.08646204
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.08646204
5proteasome assembly (GO:0043248)5.74272578
6aromatic amino acid family catabolic process (GO:0009074)5.62563653
7indole-containing compound catabolic process (GO:0042436)4.97667787
8indolalkylamine catabolic process (GO:0046218)4.97667787
9tryptophan catabolic process (GO:0006569)4.97667787
10protein neddylation (GO:0045116)4.84001469
11cullin deneddylation (GO:0010388)4.82843494
12tryptophan metabolic process (GO:0006568)4.80863187
13triglyceride-rich lipoprotein particle remodeling (GO:0034370)4.79976323
14bile acid biosynthetic process (GO:0006699)4.67181201
15protein carboxylation (GO:0018214)4.62717658
16peptidyl-glutamic acid carboxylation (GO:0017187)4.62717658
17establishment of protein localization to mitochondrial membrane (GO:0090151)4.57729198
18protein deneddylation (GO:0000338)4.51248937
19kynurenine metabolic process (GO:0070189)4.43682159
20negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)4.42068069
21high-density lipoprotein particle remodeling (GO:0034375)4.40765067
22glyoxylate metabolic process (GO:0046487)4.35852133
23complement activation, alternative pathway (GO:0006957)4.28035626
24platelet dense granule organization (GO:0060155)4.23398914
25regulation of cholesterol esterification (GO:0010872)4.23107561
26alpha-linolenic acid metabolic process (GO:0036109)4.21519537
27regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)4.20421351
28DNA double-strand break processing (GO:0000729)4.19792023
29aldehyde catabolic process (GO:0046185)4.18690151
30aromatic amino acid family metabolic process (GO:0009072)4.16171578
31DNA deamination (GO:0045006)4.16000885
32positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)4.12104171
33sulfur amino acid catabolic process (GO:0000098)4.11115802
34urea cycle (GO:0000050)4.10743903
35urea metabolic process (GO:0019627)4.10743903
36cysteine metabolic process (GO:0006534)4.10680631
37negative regulation of fibrinolysis (GO:0051918)4.07696715
38tyrosine metabolic process (GO:0006570)4.05503998
39reverse cholesterol transport (GO:0043691)4.00458338
40phospholipid efflux (GO:0033700)3.99555964
41bile acid metabolic process (GO:0008206)3.99400611
42regulation of protein activation cascade (GO:2000257)3.99372070
43mitochondrial ATP synthesis coupled proton transport (GO:0042776)3.98832083
44nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.97856953
45regulation of fibrinolysis (GO:0051917)3.97787047
46fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.97604567
47negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.97017321
48negative regulation of ligase activity (GO:0051352)3.97017321
49chromatin remodeling at centromere (GO:0031055)3.96103467
50exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.94508931
51respiratory chain complex IV assembly (GO:0008535)3.93123378
52protein-lipid complex remodeling (GO:0034368)3.92284080
53macromolecular complex remodeling (GO:0034367)3.92284080
54plasma lipoprotein particle remodeling (GO:0034369)3.92284080
55chaperone-mediated protein transport (GO:0072321)3.92272986
56CENP-A containing nucleosome assembly (GO:0034080)3.85994066
57regulation of cellular amino acid metabolic process (GO:0006521)3.84143008
58DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.83290572
59anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.82885341
60regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.82364217
61regulation of mitotic spindle checkpoint (GO:1903504)3.82364217
62nitrogen cycle metabolic process (GO:0071941)3.81258690
63signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.76024139
64signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.76024139
65signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.76024139
66amine catabolic process (GO:0009310)3.74740307
67cellular biogenic amine catabolic process (GO:0042402)3.74740307
68regulation of complement activation (GO:0030449)3.74728221
69low-density lipoprotein particle remodeling (GO:0034374)3.73188704
70signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.72785413
71intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.72785413
72indolalkylamine metabolic process (GO:0006586)3.72673332
73homocysteine metabolic process (GO:0050667)3.70839447
74triglyceride homeostasis (GO:0070328)3.70790129
75acylglycerol homeostasis (GO:0055090)3.70790129
76signal peptide processing (GO:0006465)3.69465718
77cholesterol efflux (GO:0033344)3.68425759
78rRNA modification (GO:0000154)3.65010492
79regulation of triglyceride catabolic process (GO:0010896)3.63684134
80serine family amino acid catabolic process (GO:0009071)3.63223829
81plasma lipoprotein particle clearance (GO:0034381)3.63158490
82negative regulation of DNA-dependent DNA replication (GO:2000104)3.60400981
83signal transduction involved in cell cycle checkpoint (GO:0072395)3.58594790
84coenzyme catabolic process (GO:0009109)3.57731640
85cofactor catabolic process (GO:0051187)3.57197944
86signal transduction involved in DNA integrity checkpoint (GO:0072401)3.55516102
87signal transduction involved in DNA damage checkpoint (GO:0072422)3.55516102
88ribosome assembly (GO:0042255)3.53598488
89positive regulation of ubiquitin-protein transferase activity (GO:0051443)3.49286003
90histone mRNA metabolic process (GO:0008334)3.47116776
91alpha-amino acid catabolic process (GO:1901606)3.46296978
92bile acid and bile salt transport (GO:0015721)3.46022384
93DNA catabolic process, exonucleolytic (GO:0000738)3.44988537
94DNA damage response, detection of DNA damage (GO:0042769)3.43757895
95cytochrome complex assembly (GO:0017004)3.41398610
96maturation of 5.8S rRNA (GO:0000460)3.40742618
97protein complex biogenesis (GO:0070271)3.40056914
98cellular glucuronidation (GO:0052695)3.38259817
99replication fork processing (GO:0031297)3.36441052
100amino-acid betaine metabolic process (GO:0006577)3.35909836
101histone exchange (GO:0043486)3.35894724
102very-low-density lipoprotein particle assembly (GO:0034379)3.35780811
103positive regulation of ligase activity (GO:0051351)3.35327751
104plasma lipoprotein particle assembly (GO:0034377)3.34861338
105glucuronate metabolic process (GO:0019585)3.34576051
106uronic acid metabolic process (GO:0006063)3.34576051
107mitochondrial electron transport, NADH to ubiquinone (GO:0006120)3.34295245
108response to pheromone (GO:0019236)3.30690432
109tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.29607847
110RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.29607847
111imidazole-containing compound metabolic process (GO:0052803)3.28623935
112positive regulation of lipoprotein lipase activity (GO:0051006)3.27149435
113positive regulation of triglyceride lipase activity (GO:0061365)3.27149435
114ATP synthesis coupled proton transport (GO:0015986)3.26872326
115energy coupled proton transport, down electrochemical gradient (GO:0015985)3.26872326
116mitochondrial respiratory chain complex assembly (GO:0033108)3.26391199
117benzene-containing compound metabolic process (GO:0042537)3.26167174
118plasma lipoprotein particle organization (GO:0071827)3.22637590
119negative regulation of cholesterol transport (GO:0032375)3.21652486
120negative regulation of sterol transport (GO:0032372)3.21652486
121short-chain fatty acid metabolic process (GO:0046459)3.21174296
122cellular amino acid catabolic process (GO:0009063)3.20732632
123termination of RNA polymerase III transcription (GO:0006386)3.19371044
124transcription elongation from RNA polymerase III promoter (GO:0006385)3.19371044
125intestinal cholesterol absorption (GO:0030299)3.19308925
126NAD biosynthetic process (GO:0009435)3.19086361
127fibrinolysis (GO:0042730)3.18894637
128mitochondrial respiratory chain complex I assembly (GO:0032981)3.18365381
129NADH dehydrogenase complex assembly (GO:0010257)3.18365381
130mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.18365381
131establishment of integrated proviral latency (GO:0075713)3.17769631
132rRNA methylation (GO:0031167)3.15911736
133regulation of ubiquitin-protein transferase activity (GO:0051438)3.14707716
134complement activation, classical pathway (GO:0006958)3.10505893
135phospholipid homeostasis (GO:0055091)3.10202902
136serine family amino acid metabolic process (GO:0009069)3.09864218
137RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)3.09736369
138lipoprotein metabolic process (GO:0042157)3.09334848
139complement activation (GO:0006956)3.07810154
140water-soluble vitamin biosynthetic process (GO:0042364)3.07599518
141valine metabolic process (GO:0006573)3.06855816
142protein activation cascade (GO:0072376)3.06244538
143Golgi transport vesicle coating (GO:0048200)3.06080521
144COPI coating of Golgi vesicle (GO:0048205)3.06080521
145cholesterol homeostasis (GO:0042632)3.05486336
146glycine metabolic process (GO:0006544)3.04992691
147regulation of ligase activity (GO:0051340)3.04452487
148cellular modified amino acid catabolic process (GO:0042219)3.04127669
149cellular ketone body metabolic process (GO:0046950)3.03982387
150somatic recombination of immunoglobulin genes involved in immune response (GO:0002204)3.02797739
151somatic diversification of immunoglobulins involved in immune response (GO:0002208)3.02797739
152isotype switching (GO:0045190)3.02797739
153dolichol-linked oligosaccharide biosynthetic process (GO:0006488)3.02513403
154metaphase plate congression (GO:0051310)3.02215865
155serine family amino acid biosynthetic process (GO:0009070)3.01982724
156sterol homeostasis (GO:0055092)3.00467116
157carboxylic acid catabolic process (GO:0046395)3.00312090
158organic acid catabolic process (GO:0016054)3.00312090
159DNA ligation (GO:0006266)2.99769363
160pyridine nucleotide biosynthetic process (GO:0019363)2.99383051
161nicotinamide nucleotide biosynthetic process (GO:0019359)2.99383051
162regulation of helicase activity (GO:0051095)2.98908589
163protein-cofactor linkage (GO:0018065)2.98381539
164opsonization (GO:0008228)2.97937920
165fatty acid beta-oxidation (GO:0006635)2.97880302
166protein-lipid complex subunit organization (GO:0071825)2.97721072
167mitotic metaphase plate congression (GO:0007080)2.97542848
168DNA damage response, signal transduction by p53 class mediator (GO:0030330)2.96024354
169nucleotide transmembrane transport (GO:1901679)2.94355635
170blood coagulation, intrinsic pathway (GO:0007597)2.93890063
171drug transmembrane transport (GO:0006855)2.93699582
172response to X-ray (GO:0010165)2.92886959
173fatty acid oxidation (GO:0019395)2.91338894
174spindle checkpoint (GO:0031577)2.90756948
175protein-lipid complex assembly (GO:0065005)2.90591364
176acute-phase response (GO:0006953)2.90133375
177protein K6-linked ubiquitination (GO:0085020)2.89556137
178respiratory electron transport chain (GO:0022904)2.88989803
179negative regulation of protein ubiquitination (GO:0031397)2.88187438
180DNA replication checkpoint (GO:0000076)2.87856398
181protein K11-linked ubiquitination (GO:0070979)2.87321920
182electron transport chain (GO:0022900)2.85947112
183kinetochore assembly (GO:0051382)2.85317511
184recombinational repair (GO:0000725)2.84050849
185kinetochore organization (GO:0051383)2.83205746
186mitotic spindle checkpoint (GO:0071174)2.82019963
187double-strand break repair via homologous recombination (GO:0000724)2.81626392
188antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.79592842
189spliceosomal snRNP assembly (GO:0000387)2.78529053
190pseudouridine synthesis (GO:0001522)2.78291093
191purine nucleobase biosynthetic process (GO:0009113)2.77118991
192positive regulation of cell cycle arrest (GO:0071158)2.75423148
193maintenance of fidelity involved in DNA-dependent DNA replication (GO:0045005)2.75375601
194DNA replication-independent nucleosome organization (GO:0034724)2.74835884
195DNA replication-independent nucleosome assembly (GO:0006336)2.74835884
196DNA replication-dependent nucleosome assembly (GO:0006335)2.74259642
197DNA replication-dependent nucleosome organization (GO:0034723)2.74259642
198regulation of cellular amine metabolic process (GO:0033238)2.73832781
199negative regulation of mitotic sister chromatid segregation (GO:0033048)2.71171259

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse8.45110099
2* RXR_22158963_ChIP-Seq_LIVER_Mouse6.16057188
3EGR1_23403033_ChIP-Seq_LIVER_Mouse5.85421542
4PPARA_22158963_ChIP-Seq_LIVER_Mouse5.29658264
5* LXR_22158963_ChIP-Seq_LIVER_Mouse4.85649131
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.79365307
7IRF8_22096565_ChIP-ChIP_GC-B_Human3.98222217
8CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.95835920
9FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.90975871
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse3.46441883
11PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.25994335
12HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.87359128
13E2F4_17652178_ChIP-ChIP_JURKAT_Human2.81867143
14MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.57054791
15SALL1_21062744_ChIP-ChIP_HESCs_Human2.47753683
16IRF8_21731497_ChIP-ChIP_J774_Mouse2.43670613
17ZNF274_21170338_ChIP-Seq_K562_Hela2.39758615
18NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.37718851
19VDR_23849224_ChIP-Seq_CD4+_Human2.36921116
20FLI1_27457419_Chip-Seq_LIVER_Mouse2.34728701
21IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.32226477
22CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.31580614
23STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse2.27284663
24ELF1_17652178_ChIP-ChIP_JURKAT_Human2.24521815
25VDR_22108803_ChIP-Seq_LS180_Human2.18619877
26FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.17742008
27ETS1_20019798_ChIP-Seq_JURKAT_Human2.17082902
28POU3F2_20337985_ChIP-ChIP_501MEL_Human2.16286073
29EWS_26573619_Chip-Seq_HEK293_Human2.14336061
30HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.04443542
31IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.02589655
32PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse2.01999428
33FUS_26573619_Chip-Seq_HEK293_Human1.98440511
34IGF1R_20145208_ChIP-Seq_DFB_Human1.95885452
35GATA1_22025678_ChIP-Seq_K562_Human1.93521241
36PADI4_21655091_ChIP-ChIP_MCF-7_Human1.92880240
37ZFP57_27257070_Chip-Seq_ESCs_Mouse1.88360651
38PCGF2_27294783_Chip-Seq_ESCs_Mouse1.88031824
39E2F7_22180533_ChIP-Seq_HELA_Human1.87757364
40PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.86404009
41FOXP3_21729870_ChIP-Seq_TREG_Human1.86358474
42GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.84742185
43TAF15_26573619_Chip-Seq_HEK293_Human1.77822526
44FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.74849091
45KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.73854530
46Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.71506534
47P300_19829295_ChIP-Seq_ESCs_Human1.70793624
48CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.62848770
49TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.60586734
50POU5F1_16153702_ChIP-ChIP_HESCs_Human1.57744352
51IRF8_27001747_Chip-Seq_BMDM_Mouse1.56906304
52MYC_18555785_ChIP-Seq_MESCs_Mouse1.56328694
53MYC_18940864_ChIP-ChIP_HL60_Human1.55491798
54SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.54589519
55NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.49519912
56GABP_17652178_ChIP-ChIP_JURKAT_Human1.43024555
57NOTCH1_21737748_ChIP-Seq_TLL_Human1.41171091
58STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.39398215
59SUZ12_27294783_Chip-Seq_NPCs_Mouse1.37570792
60TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.37358765
61PCGF2_27294783_Chip-Seq_NPCs_Mouse1.36523759
62NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.35425290
63RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.32260587
64NFE2_27457419_Chip-Seq_LIVER_Mouse1.30499595
65HTT_18923047_ChIP-ChIP_STHdh_Human1.30436465
66CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.28151335
67* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.28130624
68CTBP2_25329375_ChIP-Seq_LNCAP_Human1.27804144
69SRF_21415370_ChIP-Seq_HL-1_Mouse1.24625275
70GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.24491802
71NANOG_16153702_ChIP-ChIP_HESCs_Human1.22975145
72E2F1_18555785_ChIP-Seq_MESCs_Mouse1.22410333
73NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.22400213
74YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.21062937
75GBX2_23144817_ChIP-Seq_PC3_Human1.20724412
76* KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.20283935
77MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.19649232
78* GABP_19822575_ChIP-Seq_HepG2_Human1.17088424
79SOX2_27498859_Chip-Seq_STOMACH_Mouse1.16169984
80RBPJ_22232070_ChIP-Seq_NCS_Mouse1.14825513
81SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.14559121
82EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.12077740
83* NELFA_20434984_ChIP-Seq_ESCs_Mouse1.11749731
84NANOG_19829295_ChIP-Seq_ESCs_Human1.11297909
85SOX2_19829295_ChIP-Seq_ESCs_Human1.11297909
86UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.11163453
87GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.10270744
88ER_23166858_ChIP-Seq_MCF-7_Human1.09967347
89AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.09642284
90* SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.09223649
91SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09187101
92ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.09103390
93ELK1_22589737_ChIP-Seq_MCF10A_Human1.08864675
94BCAT_22108803_ChIP-Seq_LS180_Human1.08858184
95CLOCK_20551151_ChIP-Seq_293T_Human1.08817320
96ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.08622608
97RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.06979260
98CTBP1_25329375_ChIP-Seq_LNCAP_Human1.05712506
99GATA4_25053715_ChIP-Seq_YYC3_Human1.04425672
100CBP_20019798_ChIP-Seq_JUKART_Human1.03456784
101IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.03456784
102IRF1_19129219_ChIP-ChIP_H3396_Human1.02839004
103* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.01983436
104OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.01640193
105* JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.00922928
106TTF2_22483619_ChIP-Seq_HELA_Human1.00907443
107KAP1_22055183_ChIP-Seq_ESCs_Mouse1.00367160
108CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.99297524
109TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.99265465
110NRF2_20460467_ChIP-Seq_MEFs_Mouse0.98899018
111NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.98899018
112PIAS1_25552417_ChIP-Seq_VCAP_Human0.98344465
113THAP11_20581084_ChIP-Seq_MESCs_Mouse0.98092292
114SOX2_16153702_ChIP-ChIP_HESCs_Human0.97810496
115BP1_19119308_ChIP-ChIP_Hs578T_Human0.97732983
116FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.97116896
117ERG_20887958_ChIP-Seq_HPC-7_Mouse0.96682032
118MECOM_23826213_ChIP-Seq_KASUMI_Mouse0.96495624
119* POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.95700398
120HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse0.95439389
121TCF4_22108803_ChIP-Seq_LS180_Human0.94977000
122SALL4_22934838_ChIP-ChIP_CD34+_Human0.94913904
123CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.94336695
124HNF4A_19822575_ChIP-Seq_HepG2_Human0.94079742
125ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.93929974
126KLF5_20875108_ChIP-Seq_MESCs_Mouse0.93305900
127TP53_22573176_ChIP-Seq_HFKS_Human0.92663833
128FOXA1_25329375_ChIP-Seq_VCAP_Human0.91330205
129FOXA1_27270436_Chip-Seq_PROSTATE_Human0.91330205
130NANOG_18555785_Chip-Seq_ESCs_Mouse0.90972219
131EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.90786229
132FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.90453012
133SOX2_20726797_ChIP-Seq_SW620_Human0.88563669
134PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.86989209
135CREB1_15753290_ChIP-ChIP_HEK293T_Human0.86552385
136STAT4_19710469_ChIP-ChIP_TH1__Mouse0.86544172
137RXRA_24833708_ChIP-Seq_LIVER_Mouse0.85808702
138* CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.85224027
139FOXA2_19822575_ChIP-Seq_HepG2_Human0.84828516
140CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.84082193
141AR_20517297_ChIP-Seq_VCAP_Human0.83399316
142SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.81979473
143PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.81657821
144MYB_21317192_ChIP-Seq_ERMYB_Mouse0.79651493
145FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.79403249
146MEIS1_20887958_ChIP-Seq_HPC-7_Mouse0.79159661
147GATA3_26560356_Chip-Seq_TH2_Human0.79039457
148SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.78716424
149FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.78362873
150CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.78157392
151SALL4_18804426_ChIP-ChIP_XEN_Mouse0.77461105
152TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.76949583
153PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.76253190
154LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.73975809
155FOXA1_25552417_ChIP-Seq_VCAP_Human0.73905734
156* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.73452170
157HOXB4_20404135_ChIP-ChIP_EML_Mouse0.72640844
158SPI1_23547873_ChIP-Seq_NB4_Human0.72586877
159FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse0.72553869
160STAT3_20064451_ChIP-Seq_CD4+T_Mouse0.71479156
161PU_27001747_Chip-Seq_BMDM_Mouse0.71281907
162SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.70354872
163EZH2_27294783_Chip-Seq_NPCs_Mouse0.69660788
164AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.69068266
165BRD4_27068464_Chip-Seq_AML-cells_Mouse0.68713902
166GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.67601823
167ELK1_19687146_ChIP-ChIP_HELA_Human0.67253580
168GATA2_22383799_ChIP-Seq_G1ME_Mouse0.67048867
169EST1_17652178_ChIP-ChIP_JURKAT_Human0.65545810
170DCP1A_22483619_ChIP-Seq_HELA_Human0.65203612
171CRX_20693478_ChIP-Seq_RETINA_Mouse0.64192119
172* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.64074625
173SOX17_20123909_ChIP-Seq_XEN_Mouse0.63752470
174PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.63217568
175ERG_20517297_ChIP-Seq_VCAP_Human0.63018235
176* PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse0.62384424
177PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.61643425
178FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.60873498
179CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.60814664
180SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.59734210

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system6.65249407
2MP0005360_urolithiasis5.33058351
3MP0005365_abnormal_bile_salt4.91054611
4MP0005085_abnormal_gallbladder_physiolo4.86352904
5MP0008058_abnormal_DNA_repair3.92054059
6MP0003806_abnormal_nucleotide_metabolis3.84531863
7MP0008875_abnormal_xenobiotic_pharmacok3.65802559
8MP0003195_calcinosis3.61878674
9MP0003252_abnormal_bile_duct3.22239607
10MP0010094_abnormal_chromosome_stability3.07431827
11MP0002102_abnormal_ear_morphology2.87986327
12MP0009840_abnormal_foam_cell2.85763568
13MP0010329_abnormal_lipoprotein_level2.65322482
14MP0008877_abnormal_DNA_methylation2.64639764
15MP0005083_abnormal_biliary_tract2.55660361
16MP0002138_abnormal_hepatobiliary_system2.46027346
17MP0000372_irregular_coat_pigmentation2.45505912
18MP0002938_white_spotting2.38453406
19MP0003191_abnormal_cellular_cholesterol2.37722608
20MP0005332_abnormal_amino_acid2.32685427
21MP0003693_abnormal_embryo_hatching2.30317409
22MP0004957_abnormal_blastocyst_morpholog2.29707179
23MP0001666_abnormal_nutrient_absorption2.28802644
24MP0008007_abnormal_cellular_replicative2.20744835
25MP0003786_premature_aging2.18612406
26MP0001529_abnormal_vocalization2.18362354
27MP0000516_abnormal_urinary_system2.13077708
28MP0005367_renal/urinary_system_phenotyp2.13077708
29MP0003718_maternal_effect2.08070731
30MP0003880_abnormal_central_pattern2.00749624
31MP0006072_abnormal_retinal_apoptosis1.99571470
32MP0003186_abnormal_redox_activity1.91404814
33MP0000609_abnormal_liver_physiology1.86824469
34MP0003950_abnormal_plasma_membrane1.83041224
35MP0008932_abnormal_embryonic_tissue1.82632371
36MP0000569_abnormal_digit_pigmentation1.82289261
37MP0003111_abnormal_nucleus_morphology1.81701415
38MP0002118_abnormal_lipid_homeostasis1.80792137
39MP0003724_increased_susceptibility_to1.78471446
40MP0008789_abnormal_olfactory_epithelium1.77684740
41MP0002277_abnormal_respiratory_mucosa1.75332444
42MP0003868_abnormal_feces_composition1.74611139
43MP0004019_abnormal_vitamin_homeostasis1.72232934
44MP0005058_abnormal_lysosome_morphology1.71626053
45MP0003077_abnormal_cell_cycle1.69960638
46MP0001764_abnormal_homeostasis1.68630336
47MP0003890_abnormal_embryonic-extraembry1.65863371
48MP0005253_abnormal_eye_physiology1.65376038
49MP0002736_abnormal_nociception_after1.60141141
50MP0003941_abnormal_skin_development1.59294410
51MP0009643_abnormal_urine_homeostasis1.59147839
52MP0006035_abnormal_mitochondrial_morpho1.58988790
53MP0004147_increased_porphyrin_level1.57199428
54MP0005319_abnormal_enzyme/_coenzyme1.56564879
55MP0005220_abnormal_exocrine_pancreas1.53275235
56MP0001835_abnormal_antigen_presentation1.51942162
57MP0006292_abnormal_olfactory_placode1.50400451
58MP0003436_decreased_susceptibility_to1.48792068
59MP0002090_abnormal_vision1.47975585
60MP0004133_heterotaxia1.47609581
61MP0005408_hypopigmentation1.43788001
62MP0005451_abnormal_body_composition1.43409945
63MP0009697_abnormal_copulation1.42055605
64MP0002876_abnormal_thyroid_physiology1.41723022
65MP0005551_abnormal_eye_electrophysiolog1.41521115
66MP0004782_abnormal_surfactant_physiolog1.38487872
67MP0002751_abnormal_autonomic_nervous1.38240733
68MP0001293_anophthalmia1.36826960
69MP0003567_abnormal_fetal_cardiomyocyte1.35106451
70MP0008057_abnormal_DNA_replication1.34079607
71MP0003136_yellow_coat_color1.32879523
72MP0008469_abnormal_protein_level1.32677514
73MP0008872_abnormal_physiological_respon1.29023796
74MP0009785_altered_susceptibility_to1.27984439
75MP0006082_CNS_inflammation1.25933592
76MP0009764_decreased_sensitivity_to1.25420569
77MP0002693_abnormal_pancreas_physiology1.24922794
78MP0004215_abnormal_myocardial_fiber1.24587388
79MP0005584_abnormal_enzyme/coenzyme_acti1.24546618
80MP0001984_abnormal_olfaction1.21712911
81MP0002419_abnormal_innate_immunity1.17065884
82MP0005084_abnormal_gallbladder_morpholo1.14852723
83MP0005636_abnormal_mineral_homeostasis1.11810613
84MP0001485_abnormal_pinna_reflex1.10787053
85MP0005379_endocrine/exocrine_gland_phen1.10601021
86MP0002233_abnormal_nose_morphology1.10535690
87MP0002148_abnormal_hypersensitivity_rea1.09993235
88MP0002282_abnormal_trachea_morphology1.09524368
89MP0004043_abnormal_pH_regulation1.09467947
90MP0003011_delayed_dark_adaptation1.08957244
91MP0000358_abnormal_cell_content/1.08867900
92MP0005025_abnormal_response_to1.08745115
93MP0009763_increased_sensitivity_to1.08661416
94MP0005174_abnormal_tail_pigmentation1.08642585
95MP0003937_abnormal_limbs/digits/tail_de1.08362617
96MP0005387_immune_system_phenotype1.07869838
97MP0001790_abnormal_immune_system1.07869838
98MP0001661_extended_life_span1.07553094
99MP0005075_abnormal_melanosome_morpholog1.06317223
100MP0003656_abnormal_erythrocyte_physiolo1.05233396
101MP0000598_abnormal_liver_morphology1.04342860
102MP0002078_abnormal_glucose_homeostasis1.03929676
103MP0002638_abnormal_pupillary_reflex1.03800803
104MP0002095_abnormal_skin_pigmentation1.03087046
105MP0005671_abnormal_response_to1.02957427
106MP0003121_genomic_imprinting1.02757457
107MP0001944_abnormal_pancreas_morphology1.01368318
108MP0005394_taste/olfaction_phenotype1.00328581
109MP0005499_abnormal_olfactory_system1.00328581
110MP0002837_dystrophic_cardiac_calcinosis0.99807665
111MP0000647_abnormal_sebaceous_gland0.99780059
112MP0001324_abnormal_eye_pigmentation0.98065687
113MP0002877_abnormal_melanocyte_morpholog0.96589912
114MP0001845_abnormal_inflammatory_respons0.95485837
115MP0005000_abnormal_immune_tolerance0.93894019
116MP0009642_abnormal_blood_homeostasis0.92902779
117MP0000427_abnormal_hair_cycle0.92329194
118MP0005464_abnormal_platelet_physiology0.90905215
119MP0002163_abnormal_gland_morphology0.90319017
120MP0001188_hyperpigmentation0.90270219
121MP0001119_abnormal_female_reproductive0.90087435
122MP0000685_abnormal_immune_system0.88138402
123MP0001756_abnormal_urination0.88011901
124MP0000604_amyloidosis0.87587569
125MP0005647_abnormal_sex_gland0.87341484
126MP0002234_abnormal_pharynx_morphology0.87079691
127MP0004381_abnormal_hair_follicle0.84703724
128MP0001286_abnormal_eye_development0.83208422
129MP0001929_abnormal_gametogenesis0.81987573
130MP0001533_abnormal_skeleton_physiology0.81952613
131MP0001177_atelectasis0.79850983
132MP0003755_abnormal_palate_morphology0.79725614
133MP0003183_abnormal_peptide_metabolism0.79267689
134MP0004142_abnormal_muscle_tone0.78726109
135MP0005391_vision/eye_phenotype0.77271940
136MP0009765_abnormal_xenobiotic_induced0.75808558
137MP0002723_abnormal_immune_serum0.75507367
138MP0002254_reproductive_system_inflammat0.75391372
139MP0002928_abnormal_bile_duct0.72780617
140MP0000653_abnormal_sex_gland0.71996950
141MP0005389_reproductive_system_phenotype0.71870199
142MP0010386_abnormal_urinary_bladder0.71467390
143MP0003690_abnormal_glial_cell0.70767003
144MP0001800_abnormal_humoral_immune0.70323098
145MP0001853_heart_inflammation0.69977326
146MP0006036_abnormal_mitochondrial_physio0.69801184
147MP0005171_absent_coat_pigmentation0.69743376
148MP0002210_abnormal_sex_determination0.68583184
149MP0008995_early_reproductive_senescence0.67743447
150MP0005334_abnormal_fat_pad0.67577660
151MP0002295_abnormal_pulmonary_circulatio0.67374705
152MP0005376_homeostasis/metabolism_phenot0.67222077
153MP0008873_increased_physiological_sensi0.66954074
154MP0002452_abnormal_antigen_presenting0.66305564
155MP0005195_abnormal_posterior_eye0.66285448
156MP0002136_abnormal_kidney_physiology0.65511572
157MP0002166_altered_tumor_susceptibility0.64035493
158MP0003119_abnormal_digestive_system0.63739632
159MP0001145_abnormal_male_reproductive0.62445036
160MP0003137_abnormal_impulse_conducting0.61344269
161MP0001542_abnormal_bone_strength0.59755911
162MP0006054_spinal_hemorrhage0.58755106
163MP0005395_other_phenotype0.58581072
164MP0004947_skin_inflammation0.57657235
165MP0003172_abnormal_lysosome_physiology0.57049633
166MP0005535_abnormal_body_temperature0.56021831
167MP0004264_abnormal_extraembryonic_tissu0.55436388
168MP0001243_abnormal_dermal_layer0.54643317
169MP0008260_abnormal_autophagy0.53731162
170MP0000613_abnormal_salivary_gland0.53669259
171MP0001819_abnormal_immune_cell0.52994230
172MP0002132_abnormal_respiratory_system0.52926864
173MP0002420_abnormal_adaptive_immunity0.51961297
174MP0005310_abnormal_salivary_gland0.51691795
175MP0002971_abnormal_brown_adipose0.51335142
176MP0003300_gastrointestinal_ulcer0.50623291
177MP0003953_abnormal_hormone_level0.50503924

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)6.30727011
2Intrahepatic cholestasis (HP:0001406)5.62818504
3Prolonged partial thromboplastin time (HP:0003645)5.59550133
4Abnormality of monocarboxylic acid metabolism (HP:0010996)4.92753978
5Deep venous thrombosis (HP:0002625)4.88485282
6Hypoglycemic coma (HP:0001325)4.83207577
7Xanthomatosis (HP:0000991)4.68466759
8Hypobetalipoproteinemia (HP:0003563)4.46681148
9Joint hemorrhage (HP:0005261)4.18246214
10Abnormality of the common coagulation pathway (HP:0010990)4.06608652
11Complement deficiency (HP:0004431)4.04566903
12Conjugated hyperbilirubinemia (HP:0002908)4.04206038
13Acute necrotizing encephalopathy (HP:0006965)4.01437897
14Abnormality of the intrinsic pathway (HP:0010989)3.98025737
15Hyperlipoproteinemia (HP:0010980)3.92793535
16Hypoglycemic seizures (HP:0002173)3.85516616
17Fat malabsorption (HP:0002630)3.65094868
18Mitochondrial inheritance (HP:0001427)3.62046228
19Hyperglycinemia (HP:0002154)3.59069239
20Acute encephalopathy (HP:0006846)3.50110444
21Increased CSF lactate (HP:0002490)3.48705590
22Generalized aminoaciduria (HP:0002909)3.47255091
23Ketosis (HP:0001946)3.43831546
24Abnormality of methionine metabolism (HP:0010901)3.42928569
25Progressive macrocephaly (HP:0004481)3.41683803
26Abnormal mitochondria in muscle tissue (HP:0008316)3.39281006
27Pancreatic cysts (HP:0001737)3.32785152
28Hypolipoproteinemia (HP:0010981)3.32684796
29Hyperinsulinemic hypoglycemia (HP:0000825)3.32612384
30Epidermoid cyst (HP:0200040)3.24844461
31Methylmalonic acidemia (HP:0002912)3.23653858
32Abnormality of complement system (HP:0005339)3.21735039
33Recurrent gram-negative bacterial infections (HP:0005420)3.21458729
34Symptomatic seizures (HP:0011145)3.18032356
35Hyperammonemia (HP:0001987)3.16759112
36Abnormality of sulfur amino acid metabolism (HP:0004339)3.12241835
37Hepatocellular necrosis (HP:0001404)3.11559697
38Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.10193861
39Abnormality of aspartate family amino acid metabolism (HP:0010899)3.08927779
40Increased hepatocellular lipid droplets (HP:0006565)3.08884321
41True hermaphroditism (HP:0010459)3.07990758
42Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.06301354
43Abnormality of midbrain morphology (HP:0002418)3.06164244
44Molar tooth sign on MRI (HP:0002419)3.06164244
45Systemic lupus erythematosus (HP:0002725)3.05628292
46Vacuolated lymphocytes (HP:0001922)3.05132542
47Abnormality of fatty-acid metabolism (HP:0004359)3.03258396
48Abnormality of glutamine family amino acid metabolism (HP:0010902)3.02417995
49Abnormality of glycine metabolism (HP:0010895)3.01559390
50Abnormality of serine family amino acid metabolism (HP:0010894)3.01559390
51Ketoacidosis (HP:0001993)2.94467372
52Colon cancer (HP:0003003)2.92886690
53Abnormality of the labia minora (HP:0012880)2.92099037
54Steatorrhea (HP:0002570)2.91816872
55Pancreatic fibrosis (HP:0100732)2.90006469
56Hyperglycinuria (HP:0003108)2.88682241
57Type I transferrin isoform profile (HP:0003642)2.87915665
58Meckel diverticulum (HP:0002245)2.86746029
59Hypoalphalipoproteinemia (HP:0003233)2.85589186
60Myocardial infarction (HP:0001658)2.83494657
61Hyperbilirubinemia (HP:0002904)2.83090036
62Aplasia/Hypoplasia of the uvula (HP:0010293)2.80212940
63Abnormality of chromosome stability (HP:0003220)2.78811817
64Hepatic necrosis (HP:0002605)2.77377943
653-Methylglutaconic aciduria (HP:0003535)2.76561499
66Abnormality of the ileum (HP:0001549)2.75843355
67Abnormality of pyrimidine metabolism (HP:0004353)2.73036943
68Glomerulonephritis (HP:0000099)2.70428086
69Dicarboxylic aciduria (HP:0003215)2.66946134
70Abnormality of dicarboxylic acid metabolism (HP:0010995)2.66946134
71Lipid accumulation in hepatocytes (HP:0006561)2.65468754
72Hypercholesterolemia (HP:0003124)2.57231033
73Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.54418353
74Increased serum lactate (HP:0002151)2.51624560
75Abnormality of nucleobase metabolism (HP:0010932)2.51389036
76Renal Fanconi syndrome (HP:0001994)2.47889075
77Abnormality of serum amino acid levels (HP:0003112)2.45981315
78Medial flaring of the eyebrow (HP:0010747)2.42080536
79Decreased activity of mitochondrial respiratory chain (HP:0008972)2.40900828
80Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.40900828
81Abnormality of purine metabolism (HP:0004352)2.40565082
82Abnormality of the preputium (HP:0100587)2.39941675
83Hyperglycemia (HP:0003074)2.39742082
84Bifid tongue (HP:0010297)2.38739934
85Congenital, generalized hypertrichosis (HP:0004540)2.36820617
86Renal cortical cysts (HP:0000803)2.31992251
87Intestinal atresia (HP:0011100)2.31653105
88Lactic acidosis (HP:0003128)2.30736981
89Reduced antithrombin III activity (HP:0001976)2.30557424
90Delayed CNS myelination (HP:0002188)2.29689222
91Lethargy (HP:0001254)2.27548000
92Pancreatitis (HP:0001733)2.27408870
93Abnormality of urine glucose concentration (HP:0011016)2.26410862
94Glycosuria (HP:0003076)2.26410862
95Opisthotonus (HP:0002179)2.25484416
96Late onset (HP:0003584)2.24240127
97Metabolic acidosis (HP:0001942)2.22431678
98Mitral stenosis (HP:0001718)2.22359777
99Progressive inability to walk (HP:0002505)2.21386795
100Hepatocellular carcinoma (HP:0001402)2.20940321
101Vascular calcification (HP:0004934)2.20336373
102Chromosomal breakage induced by crosslinking agents (HP:0003221)2.18434495
103Aplasia/Hypoplasia of the tongue (HP:0010295)2.17606367
104Abnormality of the vitamin B12 metabolism (HP:0004341)2.16573922
105Abnormality of alanine metabolism (HP:0010916)2.16280036
106Hyperalaninemia (HP:0003348)2.16280036
107Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.16280036
108Optic disc pallor (HP:0000543)2.13129732
109Nephronophthisis (HP:0000090)2.12807562
110Elevated alkaline phosphatase (HP:0003155)2.12655859
111Hypoplastic pelvis (HP:0008839)2.12180018
112Abnormal enzyme/coenzyme activity (HP:0012379)2.10633959
113Irritability (HP:0000737)2.09490223
114Abnormal lung lobation (HP:0002101)2.09472341
115Gingival bleeding (HP:0000225)2.08363877
116Recurrent bacterial skin infections (HP:0005406)2.08359647
117Cerebral edema (HP:0002181)2.08122724
118Abnormality of vitamin B metabolism (HP:0004340)2.07761363
119Small intestinal stenosis (HP:0012848)2.06783368
120Duodenal stenosis (HP:0100867)2.06783368
121Nephrogenic diabetes insipidus (HP:0009806)2.06045146
122Skin nodule (HP:0200036)2.05781920
123Exertional dyspnea (HP:0002875)2.05448652
124Stenosis of the external auditory canal (HP:0000402)2.05117054
125Hypothermia (HP:0002045)2.04438232
126Chromsome breakage (HP:0040012)2.04156480
127Sclerocornea (HP:0000647)2.02999362
128Respiratory failure (HP:0002878)2.01385157
129Abnormality of the duodenum (HP:0002246)2.00922173
130Abolished electroretinogram (ERG) (HP:0000550)2.00805311
131Brushfield spots (HP:0001088)2.00590630
132Mucopolysacchariduria (HP:0008155)1.99499578
133Urinary glycosaminoglycan excretion (HP:0003541)1.99499578
134Congenital primary aphakia (HP:0007707)1.99167677
135Proximal tubulopathy (HP:0000114)1.95409681
136Abnormality of alkaline phosphatase activity (HP:0004379)1.95360546
137Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.95261131
138Anencephaly (HP:0002323)1.93609672
139Postaxial foot polydactyly (HP:0001830)1.92785186
140Sloping forehead (HP:0000340)1.92726322
141Menorrhagia (HP:0000132)1.92698407
142Epiphyseal stippling (HP:0010655)1.92159802
143Prolonged neonatal jaundice (HP:0006579)1.91648634
144Cardiovascular calcification (HP:0011915)1.90908408
145Abnormality of the renal cortex (HP:0011035)1.87916078
146Abnormality of endocrine pancreas physiology (HP:0012093)1.87852643
147Abnormality of the pancreatic islet cells (HP:0006476)1.87852643
148Abnormality of placental membranes (HP:0011409)1.87481348
149Amniotic constriction ring (HP:0009775)1.87481348
150Dysostosis multiplex (HP:0000943)1.86922713
151Elevated hepatic transaminases (HP:0002910)1.86847202
152Oligodactyly (hands) (HP:0001180)1.85724414
153Abnormality of mucopolysaccharide metabolism (HP:0011020)1.84914919
154Abnormality of polysaccharide metabolism (HP:0011012)1.84914919
155Abnormality of glycosaminoglycan metabolism (HP:0004371)1.84914919
156Genital tract atresia (HP:0001827)1.84576740
157Acute hepatic failure (HP:0006554)1.84246942
158Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.84223169
159Small hand (HP:0200055)1.82333792
160Vomiting (HP:0002013)1.82220644
161Gait imbalance (HP:0002141)1.81850359
162Leukodystrophy (HP:0002415)1.81610008
163Volvulus (HP:0002580)1.81404123
164Amyloidosis (HP:0011034)1.81003859
165Agnosia (HP:0010524)1.80867742
166Pancreatic islet-cell hyperplasia (HP:0004510)1.80048171
167Methylmalonic aciduria (HP:0012120)1.80027124
168Eczematoid dermatitis (HP:0000976)1.79982688
169CNS demyelination (HP:0007305)1.79971755
170Abnormality of the renal medulla (HP:0100957)1.78888383
171Preaxial hand polydactyly (HP:0001177)1.78262052
172Vaginal atresia (HP:0000148)1.78223966
173Hypoproteinemia (HP:0003075)1.77780784
174Enlarged kidneys (HP:0000105)1.77762273
175Abnormal gallbladder morphology (HP:0012437)1.77006137
176Recurrent abscess formation (HP:0002722)1.76758492
177Postaxial hand polydactyly (HP:0001162)1.76592052
178Abnormal protein N-linked glycosylation (HP:0012347)1.75788925
179Abnormal protein glycosylation (HP:0012346)1.75788925
180Abnormal glycosylation (HP:0012345)1.75788925
181Increased serum pyruvate (HP:0003542)1.75535247
182Thyroiditis (HP:0100646)1.73603817
183Carpal bone hypoplasia (HP:0001498)1.73541064
184Triphalangeal thumb (HP:0001199)1.72382435
185Male pseudohermaphroditism (HP:0000037)1.71919471
186Dandy-Walker malformation (HP:0001305)1.71323892
187Pendular nystagmus (HP:0012043)1.71002464
188Clubbing of toes (HP:0100760)1.70937474

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK4.02477910
2INSRR3.91872228
3BUB13.54474672
4PBK3.43519354
5ERN13.29031786
6TAOK33.12268158
7IRAK33.10358753
8TRIM283.07349711
9MAP3K142.89071557
10VRK22.70152524
11FGFR42.67904398
12WNK32.66649521
13IRAK42.65107184
14MAP4K22.43577037
15MKNK22.36449322
16NEK92.06269330
17TYK22.06097045
18SRPK12.01730763
19NEK11.97716846
20PLK31.97284869
21MKNK11.93992422
22TBK11.90666157
23PLK41.87321458
24FRK1.84071608
25MAPK151.82439831
26PIK3CG1.80922338
27TNIK1.79454156
28WEE11.79336855
29VRK11.78546308
30EIF2AK31.76540346
31FLT31.75233850
32IRAK11.74912988
33TSSK61.69792829
34ERBB31.69695178
35STK161.66465959
36JAK31.63951520
37TXK1.63758174
38SIK11.61836315
39IKBKE1.58038145
40BLK1.55240267
41PDK21.47407411
42TAF11.46768855
43NLK1.44453133
44PASK1.44452809
45MST41.40322764
46EPHA31.39109497
47JAK11.36391247
48MAP3K121.33241125
49TEC1.32942016
50EPHB11.31190815
51NUAK11.25386531
52PLK21.25169983
53ERBB41.23917071
54IRAK21.18402112
55NME21.18063010
56CDC71.18018269
57MAP4K11.17794518
58TTK1.16666999
59PNCK1.15688229
60ZAP701.15093383
61SIK31.11735777
62KDR1.11087114
63CASK1.09257167
64CSK1.08200497
65IKBKB1.06665187
66PLK11.04242061
67ABL21.01551181
68MST1R1.01129468
69BMPR1B0.92491227
70CCNB10.91431146
71MET0.91389092
72EIF2AK10.87268836
73DYRK20.85874986
74ITK0.85498562
75TGFBR10.85232162
76BMPR20.83763521
77OXSR10.83628682
78MAPK130.80879486
79JAK20.80877128
80PAK30.80176832
81WNK40.79784515
82PIM20.79672758
83CSNK1G20.77645423
84CHUK0.77163207
85NME10.75476707
86BTK0.75415231
87LYN0.74403723
88MAPK110.72606725
89YES10.72398628
90PRKCQ0.71666842
91DYRK1B0.71642216
92GRK10.69946979
93EPHA20.69764585
94KIT0.69010538
95MAP2K70.66914298
96NEK60.66157889
97EIF2AK20.65247146
98MAP3K40.64474776
99HIPK20.63719293
100EPHA40.63332941
101BRSK10.63282927
102FGFR20.62731655
103PTK60.59724554
104AURKB0.58493810
105STK30.58373496
106ATR0.58218237
107BCR0.58100339
108TLK10.57635329
109MYLK0.56476887
110FGFR30.55637235
111LCK0.55075759
112STK38L0.54281954
113MAP3K30.52325846
114ACVR1B0.52251665
115SYK0.51905063
116ADRBK20.51196328
117IGF1R0.50721724
118CAMKK20.48016723
119CHEK20.46934054
120ATM0.46805612
121TESK20.46636445
122GRK70.45780024
123CSNK2A10.44741248
124CSF1R0.44535724
125PKN10.43494306
126DAPK10.43041522
127MAP2K20.42763534
128PRKCG0.42696883
129ZAK0.42498603
130LIMK10.41814771
131PRKCD0.41570526
132CSNK1A1L0.41568927
133STK40.41244053
134STK390.39293097
135TIE10.38780435
136FGFR10.38619251
137ABL10.38614621
138ADRBK10.38538679
139CSNK1G10.38187163
140PIK3CA0.36813818
141LATS10.36248843
142PIM10.35235924
143MINK10.34811287
144RPS6KA40.33855208
145CSNK2A20.33631445
146PINK10.33540185
147BRSK20.33442900
148GSK3A0.33339790
149AKT30.32789350
150STK100.32596667
151TGFBR20.32390070
152CSNK1A10.31338739
153CSNK1G30.29806421
154MUSK0.29033784
155EPHB20.29014526
156MAP3K10.27973642
157PRKCE0.27347479
158RPS6KA50.26723713
159STK240.26127494
160MARK30.25945055
161DYRK30.24999967
162FER0.24310265
163CHEK10.23400857
164MELK0.22621876

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001203.73893987
2Maturity onset diabetes of the young_Homo sapiens_hsa049502.97208020
3Oxidative phosphorylation_Homo sapiens_hsa001902.94879844
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.74742398
5Non-homologous end-joining_Homo sapiens_hsa034502.68623749
6Mismatch repair_Homo sapiens_hsa034302.56003350
7Homologous recombination_Homo sapiens_hsa034402.52792989
8Parkinsons disease_Homo sapiens_hsa050122.52711152
9Tryptophan metabolism_Homo sapiens_hsa003802.50784612
10Protein export_Homo sapiens_hsa030602.49457016
11Complement and coagulation cascades_Homo sapiens_hsa046102.45865201
12Sulfur metabolism_Homo sapiens_hsa009202.43816892
13RNA polymerase_Homo sapiens_hsa030202.40838948
14Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.40336688
15Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.39996433
16Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.33028451
17Pentose and glucuronate interconversions_Homo sapiens_hsa000402.29194851
18Peroxisome_Homo sapiens_hsa041462.19194602
19Steroid biosynthesis_Homo sapiens_hsa001002.16393007
20Fatty acid degradation_Homo sapiens_hsa000712.16375041
21Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.15467580
22Fanconi anemia pathway_Homo sapiens_hsa034602.12742674
23Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.09714390
24Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.06936277
25Staphylococcus aureus infection_Homo sapiens_hsa051502.03846974
26Histidine metabolism_Homo sapiens_hsa003402.03321578
27Arginine biosynthesis_Homo sapiens_hsa002201.99054454
28Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.99045546
29Basal transcription factors_Homo sapiens_hsa030221.91430557
30Nitrogen metabolism_Homo sapiens_hsa009101.90833082
31Fatty acid elongation_Homo sapiens_hsa000621.87588071
32Selenocompound metabolism_Homo sapiens_hsa004501.81934871
33Folate biosynthesis_Homo sapiens_hsa007901.80938714
34Butanoate metabolism_Homo sapiens_hsa006501.80405718
35DNA replication_Homo sapiens_hsa030301.78595326
36Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.77147304
37Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.76954407
38Steroid hormone biosynthesis_Homo sapiens_hsa001401.75780795
39RNA degradation_Homo sapiens_hsa030181.73208852
40Chemical carcinogenesis_Homo sapiens_hsa052041.72308016
41Huntingtons disease_Homo sapiens_hsa050161.72088172
42Drug metabolism - other enzymes_Homo sapiens_hsa009831.67618840
43Nucleotide excision repair_Homo sapiens_hsa034201.62775571
44Propanoate metabolism_Homo sapiens_hsa006401.62337720
45Fatty acid metabolism_Homo sapiens_hsa012121.60561879
46Spliceosome_Homo sapiens_hsa030401.58439237
47Retinol metabolism_Homo sapiens_hsa008301.56355743
48beta-Alanine metabolism_Homo sapiens_hsa004101.50721398
49Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.47418041
50Alzheimers disease_Homo sapiens_hsa050101.46692478
51Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.44741416
52PPAR signaling pathway_Homo sapiens_hsa033201.41838686
53RNA transport_Homo sapiens_hsa030131.41656811
54Ribosome_Homo sapiens_hsa030101.37904764
55Phenylalanine metabolism_Homo sapiens_hsa003601.35887923
56Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.35366808
57Base excision repair_Homo sapiens_hsa034101.33358938
58Tyrosine metabolism_Homo sapiens_hsa003501.31783213
59Pyrimidine metabolism_Homo sapiens_hsa002401.27839972
60ABC transporters_Homo sapiens_hsa020101.27045336
61Caffeine metabolism_Homo sapiens_hsa002321.25383409
62Starch and sucrose metabolism_Homo sapiens_hsa005001.24317575
63Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.17206548
64Sulfur relay system_Homo sapiens_hsa041221.08362931
65Fat digestion and absorption_Homo sapiens_hsa049751.04763397
66Arginine and proline metabolism_Homo sapiens_hsa003300.98597779
67Vitamin digestion and absorption_Homo sapiens_hsa049770.97842191
68Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.97551407
69Purine metabolism_Homo sapiens_hsa002300.96354736
70Cell cycle_Homo sapiens_hsa041100.96236709
71Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.94870308
72Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.91042361
73One carbon pool by folate_Homo sapiens_hsa006700.88775583
74Pyruvate metabolism_Homo sapiens_hsa006200.86463885
75Glutathione metabolism_Homo sapiens_hsa004800.85432811
76Vitamin B6 metabolism_Homo sapiens_hsa007500.83818072
77Cysteine and methionine metabolism_Homo sapiens_hsa002700.83604107
78p53 signaling pathway_Homo sapiens_hsa041150.79820829
79* Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.79428160
80Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.77630147
81Lysosome_Homo sapiens_hsa041420.75485540
82Other glycan degradation_Homo sapiens_hsa005110.74584761
83Phototransduction_Homo sapiens_hsa047440.71468134
84Bile secretion_Homo sapiens_hsa049760.69457001
85Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.69320214
86Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.66527259
87Carbon metabolism_Homo sapiens_hsa012000.65926980
88Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.63799124
89Collecting duct acid secretion_Homo sapiens_hsa049660.63062521
90Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.61668898
91Metabolic pathways_Homo sapiens_hsa011000.60531981
92Pentose phosphate pathway_Homo sapiens_hsa000300.58284121
93Glycosaminoglycan degradation_Homo sapiens_hsa005310.58161242
94Cardiac muscle contraction_Homo sapiens_hsa042600.55726885
95Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.53255140
962-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.52384162
97alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.52173991
98Linoleic acid metabolism_Homo sapiens_hsa005910.51373290
99Biosynthesis of amino acids_Homo sapiens_hsa012300.51089828
100Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.50544928
101Proteasome_Homo sapiens_hsa030500.47895220
102Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.47291917
103Galactose metabolism_Homo sapiens_hsa000520.47115946
104Prion diseases_Homo sapiens_hsa050200.46803186
105Primary immunodeficiency_Homo sapiens_hsa053400.46449462
106Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.46405106
107Asthma_Homo sapiens_hsa053100.46238618
108Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.45041865
109Oocyte meiosis_Homo sapiens_hsa041140.42990970
110Glycerolipid metabolism_Homo sapiens_hsa005610.42979840
111Autoimmune thyroid disease_Homo sapiens_hsa053200.42391503
112Lysine degradation_Homo sapiens_hsa003100.42039645
113Graft-versus-host disease_Homo sapiens_hsa053320.41935787
114mRNA surveillance pathway_Homo sapiens_hsa030150.40579994
115Legionellosis_Homo sapiens_hsa051340.40239878
116Intestinal immune network for IgA production_Homo sapiens_hsa046720.36639369
117Allograft rejection_Homo sapiens_hsa053300.36163497
118Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.34821393
119TGF-beta signaling pathway_Homo sapiens_hsa043500.34459128
120SNARE interactions in vesicular transport_Homo sapiens_hsa041300.34080139
121Regulation of autophagy_Homo sapiens_hsa041400.33590333
122Sphingolipid metabolism_Homo sapiens_hsa006000.33575612
123NF-kappa B signaling pathway_Homo sapiens_hsa040640.32962691
124Arachidonic acid metabolism_Homo sapiens_hsa005900.31638668
125N-Glycan biosynthesis_Homo sapiens_hsa005100.31441181
126Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.30482620
127Fructose and mannose metabolism_Homo sapiens_hsa000510.30242380
128RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.29580137
129Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.28682617
130Cyanoamino acid metabolism_Homo sapiens_hsa004600.27398922
131Type I diabetes mellitus_Homo sapiens_hsa049400.25955855
132Phagosome_Homo sapiens_hsa041450.25286327
133Ether lipid metabolism_Homo sapiens_hsa005650.25023141
134Pertussis_Homo sapiens_hsa051330.24770538
135Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.24411870
136Antigen processing and presentation_Homo sapiens_hsa046120.18638664
137Rheumatoid arthritis_Homo sapiens_hsa053230.15510799
138Fatty acid biosynthesis_Homo sapiens_hsa000610.15502911
139Toll-like receptor signaling pathway_Homo sapiens_hsa046200.15165629

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