ELOVL5

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





Description: This gene belongs to the ELO family. It is highly expressed in the adrenal gland and testis, and encodes a multi-pass membrane protein that is localized in the endoplasmic reticulum. This protein is involved in the elongation of long-chain polyunsaturated fatty acids. Mutations in this gene have been associated with spinocerebellar ataxia-38 (SCA38). Alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.26103678
2L-phenylalanine catabolic process (GO:0006559)7.26103678
3L-phenylalanine metabolic process (GO:0006558)6.81251282
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)6.81251282
5* alpha-linolenic acid metabolic process (GO:0036109)6.24356100
6triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.18083062
7low-density lipoprotein particle clearance (GO:0034383)6.16032972
8aromatic amino acid family catabolic process (GO:0009074)6.14646824
9nuclear pore complex assembly (GO:0051292)6.06856501
10bile acid biosynthetic process (GO:0006699)5.58219238
11high-density lipoprotein particle remodeling (GO:0034375)5.33989680
12glyoxylate metabolic process (GO:0046487)5.33678284
13tryptophan catabolic process (GO:0006569)5.13479418
14indole-containing compound catabolic process (GO:0042436)5.13479418
15indolalkylamine catabolic process (GO:0046218)5.13479418
16nuclear pore organization (GO:0006999)5.10139694
17kynurenine metabolic process (GO:0070189)5.05689001
18peptidyl-glutamic acid carboxylation (GO:0017187)4.96539929
19protein carboxylation (GO:0018214)4.96539929
20negative regulation of fibrinolysis (GO:0051918)4.95905704
21sulfur amino acid catabolic process (GO:0000098)4.93687979
22reverse cholesterol transport (GO:0043691)4.85803236
23cysteine metabolic process (GO:0006534)4.85711960
24tryptophan metabolic process (GO:0006568)4.84452781
25regulation of cholesterol esterification (GO:0010872)4.77759502
26urea cycle (GO:0000050)4.76967813
27urea metabolic process (GO:0019627)4.76967813
28bile acid metabolic process (GO:0008206)4.75625324
29regulation of fibrinolysis (GO:0051917)4.70852432
30protein-lipid complex remodeling (GO:0034368)4.70406199
31macromolecular complex remodeling (GO:0034367)4.70406199
32plasma lipoprotein particle remodeling (GO:0034369)4.70406199
33complement activation, alternative pathway (GO:0006957)4.64880326
34fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.64615753
35regulation of triglyceride catabolic process (GO:0010896)4.62769120
36regulation of protein activation cascade (GO:2000257)4.62481951
37pore complex assembly (GO:0046931)4.49956857
38tyrosine metabolic process (GO:0006570)4.46892577
39coenzyme catabolic process (GO:0009109)4.44949844
40nitrogen cycle metabolic process (GO:0071941)4.38572291
41aromatic amino acid family metabolic process (GO:0009072)4.38361479
42serine family amino acid catabolic process (GO:0009071)4.37977035
43phospholipid efflux (GO:0033700)4.36959094
44negative regulation of cholesterol transport (GO:0032375)4.35942326
45negative regulation of sterol transport (GO:0032372)4.35942326
46plasma lipoprotein particle clearance (GO:0034381)4.34484222
47ethanol oxidation (GO:0006069)4.34199379
48low-density lipoprotein particle remodeling (GO:0034374)4.31716845
49regulation of complement activation (GO:0030449)4.31149512
50cellular ketone body metabolic process (GO:0046950)4.26036064
51amino-acid betaine metabolic process (GO:0006577)4.24636919
52alpha-amino acid catabolic process (GO:1901606)4.23887201
53acylglycerol homeostasis (GO:0055090)4.23075899
54triglyceride homeostasis (GO:0070328)4.23075899
55cholesterol efflux (GO:0033344)4.21906365
56Golgi transport vesicle coating (GO:0048200)4.17847555
57COPI coating of Golgi vesicle (GO:0048205)4.17847555
58homocysteine metabolic process (GO:0050667)4.16611962
59glutamate metabolic process (GO:0006536)3.98623426
60plasma lipoprotein particle assembly (GO:0034377)3.96080007
61lysine metabolic process (GO:0006553)3.95101672
62lysine catabolic process (GO:0006554)3.95101672
63cellular amino acid catabolic process (GO:0009063)3.94931328
64serine family amino acid biosynthetic process (GO:0009070)3.92225476
65* very long-chain fatty acid metabolic process (GO:0000038)3.91057102
66cellular modified amino acid catabolic process (GO:0042219)3.88506369
67very-low-density lipoprotein particle assembly (GO:0034379)3.87416354
68regulation of cholesterol biosynthetic process (GO:0045540)3.86143983
69acetyl-CoA metabolic process (GO:0006084)3.86079224
70bile acid and bile salt transport (GO:0015721)3.85950306
71cellular glucuronidation (GO:0052695)3.84045649
72mitotic chromosome condensation (GO:0007076)3.83508876
73imidazole-containing compound metabolic process (GO:0052803)3.82270916
74glycine metabolic process (GO:0006544)3.78319795
75serine family amino acid metabolic process (GO:0009069)3.75255588
76NADPH regeneration (GO:0006740)3.74132788
77cholesterol biosynthetic process (GO:0006695)3.71544967
78cofactor catabolic process (GO:0051187)3.71132860
79ketone body metabolic process (GO:1902224)3.70791370
80short-chain fatty acid metabolic process (GO:0046459)3.70727375
81DNA topological change (GO:0006265)3.69850334
82indolalkylamine metabolic process (GO:0006586)3.69488371
83triglyceride catabolic process (GO:0019433)3.68551593
84plasma lipoprotein particle organization (GO:0071827)3.68549382
85amine catabolic process (GO:0009310)3.67731359
86cellular biogenic amine catabolic process (GO:0042402)3.67731359
87dicarboxylic acid biosynthetic process (GO:0043650)3.67713115
88benzene-containing compound metabolic process (GO:0042537)3.67569268
89regulation of cholesterol metabolic process (GO:0090181)3.67323911
90heme transport (GO:0015886)3.66326480
91opsonization (GO:0008228)3.64472976
92positive regulation of triglyceride lipase activity (GO:0061365)3.63636290
93positive regulation of lipoprotein lipase activity (GO:0051006)3.63636290
94aldehyde catabolic process (GO:0046185)3.61808074
95fatty acid homeostasis (GO:0055089)3.60864607
96cholesterol homeostasis (GO:0042632)3.60026866
97* long-chain fatty-acyl-CoA metabolic process (GO:0035336)3.59352895
98pentose-phosphate shunt (GO:0006098)3.59153146
99phospholipid homeostasis (GO:0055091)3.59143760
100regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)3.59136869
101positive regulation of lipid catabolic process (GO:0050996)3.58026363
102protein-lipid complex assembly (GO:0065005)3.57102253
103fibrinolysis (GO:0042730)3.56850701
104regulation of cholesterol homeostasis (GO:2000188)3.56022746
105negative regulation of lipase activity (GO:0060192)3.54675984
106sterol homeostasis (GO:0055092)3.54521364
107biotin metabolic process (GO:0006768)3.53968664
108tricarboxylic acid metabolic process (GO:0072350)3.53634647
109* fatty-acyl-CoA biosynthetic process (GO:0046949)3.52997006
110organic acid catabolic process (GO:0016054)3.51649514
111carboxylic acid catabolic process (GO:0046395)3.51649514
112L-serine metabolic process (GO:0006563)3.49268332
113arginine metabolic process (GO:0006525)3.49230881
114protein-lipid complex subunit organization (GO:0071825)3.47693307
115* long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)3.45616759
116establishment of integrated proviral latency (GO:0075713)3.44266316
117DNA unwinding involved in DNA replication (GO:0006268)3.41864222
118drug catabolic process (GO:0042737)3.41573036
119sister chromatid segregation (GO:0000819)3.39621912
120uronic acid metabolic process (GO:0006063)3.39508467
121glucuronate metabolic process (GO:0019585)3.39508467
122mitotic metaphase plate congression (GO:0007080)3.36552038
123mitotic sister chromatid segregation (GO:0000070)3.35493456
124protein localization to kinetochore (GO:0034501)3.33430206
125* linoleic acid metabolic process (GO:0043651)3.29051205
126mitotic sister chromatid cohesion (GO:0007064)3.26773573
127* fatty-acyl-CoA metabolic process (GO:0035337)3.21423083
128regulation of mitotic spindle organization (GO:0060236)3.20316058
129protein localization to chromosome, centromeric region (GO:0071459)3.18522673
130acylglycerol catabolic process (GO:0046464)3.17336904
131neutral lipid catabolic process (GO:0046461)3.17336904
132* thioester biosynthetic process (GO:0035384)3.13596044
133* acyl-CoA biosynthetic process (GO:0071616)3.13596044
134sterol biosynthetic process (GO:0016126)3.11926829
135establishment of chromosome localization (GO:0051303)3.03475394
136protein export from nucleus (GO:0006611)2.95267464
137COPII vesicle coating (GO:0048208)2.93926912
138* triglyceride biosynthetic process (GO:0019432)2.93789967
139metaphase plate congression (GO:0051310)2.93721345
140regulation of RNA export from nucleus (GO:0046831)2.92650626
141iron ion import (GO:0097286)2.87607268
142regulation of translational fidelity (GO:0006450)2.82860691
143regulation of attachment of spindle microtubules to kinetochore (GO:0051988)2.81248197
144mitotic nuclear envelope disassembly (GO:0007077)2.80594542
145regulation of nucleobase-containing compound transport (GO:0032239)2.78942082
146nuclear envelope disassembly (GO:0051081)2.76768115
147membrane disassembly (GO:0030397)2.76768115
148detection of molecule of bacterial origin (GO:0032490)2.74545207
149establishment of viral latency (GO:0019043)2.73385317
150* acylglycerol biosynthetic process (GO:0046463)2.69077219
151* neutral lipid biosynthetic process (GO:0046460)2.69077219
152regulation of spindle organization (GO:0090224)2.68537945
153regulation of cAMP-dependent protein kinase activity (GO:2000479)2.66079848
154cellular response to follicle-stimulating hormone stimulus (GO:0071372)2.65101988
155pre-miRNA processing (GO:0031054)2.62803098
156formation of translation preinitiation complex (GO:0001731)2.61177830
157vesicle coating (GO:0006901)2.58861182
158protein complex localization (GO:0031503)2.58720882
159purine nucleobase biosynthetic process (GO:0009113)2.57014252
160histone H2B ubiquitination (GO:0033523)2.55829697
161negative regulation of fibroblast apoptotic process (GO:2000270)2.55398202
162maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.54641970
163glucose catabolic process (GO:0006007)2.54045896
164RNA stabilization (GO:0043489)2.52820069
165mRNA stabilization (GO:0048255)2.52820069
166regulation of chromosome segregation (GO:0051983)2.49952449
167DNA strand elongation involved in DNA replication (GO:0006271)2.49696369
168negative regulation of chromosome segregation (GO:0051985)2.48543351
169negative regulation of mitotic sister chromatid separation (GO:2000816)2.45769252
170negative regulation of sister chromatid segregation (GO:0033046)2.45769252
171negative regulation of mitotic metaphase/anaphase transition (GO:0045841)2.45769252
172negative regulation of metaphase/anaphase transition of cell cycle (GO:1902100)2.45769252
173negative regulation of mitotic sister chromatid segregation (GO:0033048)2.45769252
174ribosome assembly (GO:0042255)2.45438660
175protein localization to endosome (GO:0036010)2.44336278
176negative regulation of phagocytosis (GO:0050765)2.44150485
177* thioester metabolic process (GO:0035383)2.43734476
178* acyl-CoA metabolic process (GO:0006637)2.43734476
179cellular protein complex localization (GO:0034629)2.43446305
180response to follicle-stimulating hormone (GO:0032354)2.41991194
181DNA strand elongation (GO:0022616)2.41967740
182DNA ligation (GO:0006266)2.41763577
183stress fiber assembly (GO:0043149)2.40084019
184regulation of mitotic metaphase/anaphase transition (GO:0030071)2.39561604
185regulation of metaphase/anaphase transition of cell cycle (GO:1902099)2.39561604
186lipid storage (GO:0019915)2.39037979
187regulation of histone H3-K27 methylation (GO:0061085)2.38734810
188mitotic spindle checkpoint (GO:0071174)2.38465598
189positive regulation of cellular response to insulin stimulus (GO:1900078)2.38074895
190positive regulation of chromosome segregation (GO:0051984)2.36779130
191negative regulation of DNA recombination (GO:0045910)2.36594746
192spindle checkpoint (GO:0031577)2.36476054
193chromosome condensation (GO:0030261)2.36317427
194mitotic spindle assembly checkpoint (GO:0007094)2.36312254
195paraxial mesoderm development (GO:0048339)2.34897430
196NADP metabolic process (GO:0006739)2.32542826

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* RXR_22158963_ChIP-Seq_LIVER_Mouse7.79146729
2E2F7_22180533_ChIP-Seq_HELA_Human6.97815988
3PPARA_22158963_ChIP-Seq_LIVER_Mouse6.60507215
4EGR1_23403033_ChIP-Seq_LIVER_Mouse6.26991737
5* LXR_22158963_ChIP-Seq_LIVER_Mouse6.24902125
6PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.88418631
7* FOXO1_23066095_ChIP-Seq_LIVER_Mouse4.85123769
8CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.55392428
9FOXM1_23109430_ChIP-Seq_U2OS_Human3.90780582
10CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.69987823
11* NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.63182562
12NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.41464954
13EGR1_19374776_ChIP-ChIP_THP-1_Human3.41426950
14E2F4_17652178_ChIP-ChIP_JURKAT_Human2.87142170
15AR_21909140_ChIP-Seq_LNCAP_Human2.85048398
16EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.77337121
17MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.62059070
18FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.48368796
19MYC_18555785_ChIP-Seq_MESCs_Mouse2.36761728
20KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.29673477
21WT1_19549856_ChIP-ChIP_CCG9911_Human2.20200760
22FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.19815818
23NELFA_20434984_ChIP-Seq_ESCs_Mouse2.17102240
24CLOCK_20551151_ChIP-Seq_293T_Human2.14273543
25PRDM5_23873026_ChIP-Seq_MEFs_Mouse2.12327018
26MYCN_18555785_ChIP-Seq_MESCs_Mouse2.00611743
27ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.0710156
28TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.87058241
29* MYB_21317192_ChIP-Seq_ERMYB_Mouse1.86921756
30ZFX_18555785_ChIP-Seq_MESCs_Mouse1.86724589
31TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.86152974
32ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.77595859
33MYC_19079543_ChIP-ChIP_MESCs_Mouse1.75938883
34CREB1_15753290_ChIP-ChIP_HEK293T_Human1.75689624
35* FOXA2_19822575_ChIP-Seq_HepG2_Human1.73309950
36HTT_18923047_ChIP-ChIP_STHdh_Human1.71642491
37MYC_19030024_ChIP-ChIP_MESCs_Mouse1.70663954
38HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.69977813
39RBPJ_22232070_ChIP-Seq_NCS_Mouse1.67557058
40PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.65758442
41CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.62434393
42SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.61834936
43* CREB1_23762244_ChIP-Seq_HIPPOCAMPUS_Rat1.60833917
44HOXB4_20404135_ChIP-ChIP_EML_Mouse1.55081873
45STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.53684829
46MYC_22102868_ChIP-Seq_BL_Human1.52453605
47GATA1_22025678_ChIP-Seq_K562_Human1.52295579
48PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.52259599
49NANOG_18555785_ChIP-Seq_MESCs_Mouse1.49286034
50HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.46476670
51KLF4_18555785_ChIP-Seq_MESCs_Mouse1.44857887
52POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.44416167
53* CREM_20920259_ChIP-Seq_GC1-SPG_Mouse1.43353078
54TFEB_21752829_ChIP-Seq_HELA_Human1.42665357
55E2F1_21310950_ChIP-Seq_MCF-7_Human1.42212350
56NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.42071594
57E2F1_18555785_ChIP-Seq_MESCs_Mouse1.41823215
58MYC_18358816_ChIP-ChIP_MESCs_Mouse1.40795617
59CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.39559587
60STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.35467420
61CHD1_26751641_Chip-Seq_LNCaP_Human1.35136459
62SALL1_21062744_ChIP-ChIP_HESCs_Human1.33952765
63POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.33104111
64NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.32974458
65ELK1_19687146_ChIP-ChIP_HELA_Human1.27159354
66* HNF4A_19822575_ChIP-Seq_HepG2_Human1.26467393
67KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.25088584
68CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.22794087
69SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.22600590
70NANOG_21062744_ChIP-ChIP_HESCs_Human1.22586386
71* TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.22443175
72SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.22334323
73YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.21861422
74* SOX2_27498859_Chip-Seq_STOMACH_Mouse1.20788277
75* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.19704003
76TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.18815886
77ELF1_17652178_ChIP-ChIP_JURKAT_Human1.16903846
78FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.14878320
79KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.13486579
80STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.13220147
81PADI4_21655091_ChIP-ChIP_MCF-7_Human1.11773833
82STAT3_1855785_ChIP-Seq_MESCs_Mouse1.11565836
83ESR2_21235772_ChIP-Seq_MCF-7_Human1.11289694
84* CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.11037725
85SOX17_20123909_ChIP-Seq_XEN_Mouse1.10954008
86DCP1A_22483619_ChIP-Seq_HELA_Human1.10513205
87THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.09570502
88AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.08346863
89* MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.08198291
90NRF2_20460467_ChIP-Seq_MEFs_Mouse1.07379627
91NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.07379627
92ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.05820485
93* ERG_20887958_ChIP-Seq_HPC-7_Mouse1.05690325
94EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.05248182
95HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.04871592
96BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.04536316
97ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.03834833
98* SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.03694505
99PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.03379335
100MYB_26560356_Chip-Seq_TH1_Human1.01702113
101ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.01647724
102XRN2_22483619_ChIP-Seq_HELA_Human0.99673775
103SOX2_18555785_ChIP-Seq_MESCs_Mouse0.98212833
104GATA4_25053715_ChIP-Seq_YYC3_Human0.96781431
105NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.95177893
106MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.95130462
107* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.94780592
108* NCOR1_26117541_ChIP-Seq_K562_Human0.94749692
109WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.94655916
110* SALL4_18804426_ChIP-ChIP_XEN_Mouse0.94601908
111SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse0.94438079
112ESR1_15608294_ChIP-ChIP_MCF-7_Human0.93048844
113P300_27058665_Chip-Seq_ZR-75-30cells_Human0.92278016
114KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.92216159
115KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.92216159
116KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.92216159
117SOX2_19030024_ChIP-ChIP_MESCs_Mouse0.92022744
118TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.91934872
119E2F4_21247883_ChIP-Seq_LYMPHOBLASTOID_Human0.90748052
120MYB_26560356_Chip-Seq_TH2_Human0.90700643
121RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.90657177
122AUTS2_25519132_ChIP-Seq_293T-REX_Human0.89580952
123RXRA_24833708_ChIP-Seq_LIVER_Mouse0.87412483
124IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.86983389
125* NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.84844072
126FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.84821231
127CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.84541836
128FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.84364667
129Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.82118473
130FOXO3_23340844_ChIP-Seq_DLD1_Human0.80092246
131RARG_19884340_ChIP-ChIP_MEFs_Mouse0.79002195
132ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.78399215
133SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.78006659
134FOXA1_25552417_ChIP-Seq_VCAP_Human0.77023950
135PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.76546250
136ESR1_20079471_ChIP-ChIP_T-47D_Human0.76023860
137ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.75719736
138TRIM28_21343339_ChIP-Seq_HEK293_Human0.72969966
139RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.72875106
140GATA1_19941826_ChIP-Seq_K562_Human0.72832319
141PPAR_26484153_Chip-Seq_NCI-H1993_Human0.71724272
142ESR1_21235772_ChIP-Seq_MCF-7_Human0.70288571
143CBP_21632823_ChIP-Seq_H3396_Human0.62135235
144* SOX2_20726797_ChIP-Seq_SW620_Human0.60779841
145* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.59008220
146* PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.58692287
147SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.57653781
148EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.57451887
149AR_21572438_ChIP-Seq_LNCaP_Human0.57249169
150PIAS1_25552417_ChIP-Seq_VCAP_Human0.56952998
151CEBPB_22108803_ChIP-Seq_LS180_Human0.55943536
152IRF8_22096565_ChIP-ChIP_GC-B_Human0.55654597
153ZNF263_19887448_ChIP-Seq_K562_Human0.55302631
154* GATA2_19941826_ChIP-Seq_K562_Human0.54990398
155RAD21_21589869_ChIP-Seq_MESCs_Mouse0.54045929
156PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.53684290
157AR_20517297_ChIP-Seq_VCAP_Human0.52237260
158EGR1_19032775_ChIP-ChIP_M12_Human0.51542543
159BCAT_22108803_ChIP-Seq_LS180_Human0.51063098
160AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.50583079
161* TP63_23658742_ChIP-Seq_EP156T_Human0.50254488
162TAF15_26573619_Chip-Seq_HEK293_Human0.50043168
163MYC_19915707_ChIP-ChIP_AK7_Human0.49262034
164GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.48452709
165PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.48173203
166TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.47377789
167* GATA3_24758297_ChIP-Seq_MCF-7_Human0.46979578
168ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.46529415
169CDX2_19796622_ChIP-Seq_MESCs_Mouse0.46341647
170ESET_19884257_ChIP-Seq_ESCs_Mouse0.45888216
171RARB_24833708_ChIP-Seq_LIVER_Mouse0.45811180
172NFIB_24661679_ChIP-Seq_LUNG_Mouse0.45294489
173CDX2_22108803_ChIP-Seq_LS180_Human0.44965325
174RARA_24833708_ChIP-Seq_LIVER_Mouse0.44954866
175BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.44855597
176KAP1_22055183_ChIP-Seq_ESCs_Mouse0.44437497
177PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.44412259
178FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.43487403
179* TBX20_22080862_ChIP-Seq_HEART_Mouse0.43036640
180* TBX20_22328084_ChIP-Seq_HEART_Mouse0.43036640
181FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.42537635
182ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.41974847
183CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.41403558
184FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.41242749
185* P53_21459846_ChIP-Seq_SAOS-2_Human0.40761187
186RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse0.39804622
187CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse0.39628629

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.18124229
2MP0005360_urolithiasis6.68785269
3MP0005085_abnormal_gallbladder_physiolo5.86041395
4MP0005365_abnormal_bile_salt5.82570200
5MP0008875_abnormal_xenobiotic_pharmacok4.78943532
6MP0003806_abnormal_nucleotide_metabolis4.48052471
7MP0009840_abnormal_foam_cell3.70335586
8MP0003252_abnormal_bile_duct3.56438175
9MP0010329_abnormal_lipoprotein_level3.46770955
10MP0002877_abnormal_melanocyte_morpholog3.29800617
11MP0005083_abnormal_biliary_tract3.25203499
12MP0003195_calcinosis2.78641898
13MP0004185_abnormal_adipocyte_glucose2.76523336
14MP0005332_abnormal_amino_acid2.72394679
15MP0008057_abnormal_DNA_replication2.63305008
16MP0008260_abnormal_autophagy2.56039358
17MP0001666_abnormal_nutrient_absorption2.46142972
18MP0002009_preneoplasia2.42473824
19MP0003566_abnormal_cell_adhesion2.37032234
20MP0003111_abnormal_nucleus_morphology2.25925366
21MP0002118_abnormal_lipid_homeostasis2.24577812
22MP0004957_abnormal_blastocyst_morpholog2.20560739
23MP0003191_abnormal_cellular_cholesterol2.12011576
24MP0010352_gastrointestinal_tract_polyps2.10821252
25* MP0000609_abnormal_liver_physiology2.06442492
26MP0003221_abnormal_cardiomyocyte_apopto2.05797314
27MP0010094_abnormal_chromosome_stability2.01794288
28MP0003077_abnormal_cell_cycle2.01785818
29MP0004272_abnormal_basement_membrane1.95947428
30MP0009672_abnormal_birth_weight1.87136183
31MP0004019_abnormal_vitamin_homeostasis1.85072228
32MP0008932_abnormal_embryonic_tissue1.79947061
33MP0002138_abnormal_hepatobiliary_system1.79680968
34MP0008007_abnormal_cellular_replicative1.75000241
35MP0003868_abnormal_feces_composition1.74466111
36MP0003693_abnormal_embryo_hatching1.71565169
37MP0001730_embryonic_growth_arrest1.71081673
38MP0005076_abnormal_cell_differentiation1.70806818
39MP0003690_abnormal_glial_cell1.69406935
40MP0002970_abnormal_white_adipose1.66617012
41MP0005584_abnormal_enzyme/coenzyme_acti1.64957207
42MP0005319_abnormal_enzyme/_coenzyme1.62767402
43MP0000604_amyloidosis1.59339846
44MP0000858_altered_metastatic_potential1.58447797
45MP0005375_adipose_tissue_phenotype1.56447038
46MP0001915_intracranial_hemorrhage1.55381709
47MP0002166_altered_tumor_susceptibility1.53995950
48MP0005451_abnormal_body_composition1.48484814
49MP0000350_abnormal_cell_proliferation1.47607235
50MP0003329_amyloid_beta_deposits1.45587838
51MP0003011_delayed_dark_adaptation1.42875325
52MP0003828_pulmonary_edema1.42297380
53MP0003186_abnormal_redox_activity1.40945376
54MP0003091_abnormal_cell_migration1.40153292
55MP0001764_abnormal_homeostasis1.34344813
56MP0002254_reproductive_system_inflammat1.34290678
57MP0005380_embryogenesis_phenotype1.32639974
58MP0001672_abnormal_embryogenesis/_devel1.32639974
59MP0003656_abnormal_erythrocyte_physiolo1.30377287
60MP0003984_embryonic_growth_retardation1.30345544
61MP0009697_abnormal_copulation1.29486724
62MP0002088_abnormal_embryonic_growth/wei1.28839403
63MP0009115_abnormal_fat_cell1.27583126
64MP0005647_abnormal_sex_gland1.25337003
65MP0009643_abnormal_urine_homeostasis1.22711752
66MP0003941_abnormal_skin_development1.22530441
67MP0010307_abnormal_tumor_latency1.20076924
68MP0005621_abnormal_cell_physiology1.18628568
69MP0002080_prenatal_lethality1.18394083
70MP0008058_abnormal_DNA_repair1.18182113
71MP0009703_decreased_birth_body1.17880388
72MP0004233_abnormal_muscle_weight1.13665035
73MP0003448_altered_tumor_morphology1.13422257
74MP0002396_abnormal_hematopoietic_system1.12787476
75MP0002086_abnormal_extraembryonic_tissu1.08723141
76MP0002060_abnormal_skin_morphology1.07887587
77MP0002006_tumorigenesis1.07758587
78MP0000598_abnormal_liver_morphology1.04518239
79MP0001697_abnormal_embryo_size1.04050088
80MP0005248_abnormal_Harderian_gland1.03729174
81MP0004947_skin_inflammation1.03420833
82MP0005384_cellular_phenotype1.02902823
83MP0003959_abnormal_lean_body1.02036363
84MP0005408_hypopigmentation1.01048800
85MP0001851_eye_inflammation0.99243834
86MP0003705_abnormal_hypodermis_morpholog0.99022912
87MP0010368_abnormal_lymphatic_system0.99016193
88MP0009763_increased_sensitivity_to0.98093755
89MP0004197_abnormal_fetal_growth/weight/0.97495112
90MP0006138_congestive_heart_failure0.96886320
91MP0000920_abnormal_myelination0.94861031
92MP0003453_abnormal_keratinocyte_physiol0.92974992
93MP0001727_abnormal_embryo_implantation0.91179515
94MP0009764_decreased_sensitivity_to0.90693965
95MP0001177_atelectasis0.89940626
96MP0001661_extended_life_span0.88623548
97MP0000639_abnormal_adrenal_gland0.88257832
98MP0006054_spinal_hemorrhage0.88191320
99MP0004808_abnormal_hematopoietic_stem0.87815972
100MP0005636_abnormal_mineral_homeostasis0.85856931
101MP0000358_abnormal_cell_content/0.85140295
102MP0000313_abnormal_cell_death0.84123303
103MP0000703_abnormal_thymus_morphology0.83492908
104MP0002085_abnormal_embryonic_tissue0.82427455
105MP0000627_abnormal_mammary_gland0.81495597
106MP0009384_cardiac_valve_regurgitation0.81437293
107MP0008469_abnormal_protein_level0.79875120
108MP0009642_abnormal_blood_homeostasis0.79664067
109MP0002084_abnormal_developmental_patter0.77603392
110MP0005376_homeostasis/metabolism_phenot0.75946171
111MP0005058_abnormal_lysosome_morphology0.75304244
112MP0001849_ear_inflammation0.75238108
113MP0002971_abnormal_brown_adipose0.75141631
114MP0009765_abnormal_xenobiotic_induced0.74714163
115MP0006035_abnormal_mitochondrial_morpho0.74498791
116MP0002078_abnormal_glucose_homeostasis0.73864707
117MP0005501_abnormal_skin_physiology0.73460644
118MP0003075_altered_response_to0.72928584
119MP0002019_abnormal_tumor_incidence0.72192685
120MP0003763_abnormal_thymus_physiology0.71957099
121MP0003303_peritoneal_inflammation0.71171310
122MP0003300_gastrointestinal_ulcer0.70738332
123MP0001881_abnormal_mammary_gland0.67169800
124MP0004130_abnormal_muscle_cell0.66547374
125MP0005334_abnormal_fat_pad0.65514165
126MP0006036_abnormal_mitochondrial_physio0.62487197
127MP0005670_abnormal_white_adipose0.62323903
128MP0005220_abnormal_exocrine_pancreas0.62124284
129MP0005535_abnormal_body_temperature0.60677622
130MP0003724_increased_susceptibility_to0.60255615
131MP0004782_abnormal_surfactant_physiolog0.55257470
132MP0005164_abnormal_response_to0.54673584
133MP0003638_abnormal_response/metabolism_0.54193981
134MP0004883_abnormal_blood_vessel0.53609668
135MP0002295_abnormal_pulmonary_circulatio0.53504189
136MP0001756_abnormal_urination0.53207840
137MP0003632_abnormal_nervous_system0.52286697
138MP0003950_abnormal_plasma_membrane0.52189675
139MP0005395_other_phenotype0.51633743
140MP0005266_abnormal_metabolism0.50786320
141MP0002876_abnormal_thyroid_physiology0.50165510
142MP0006082_CNS_inflammation0.49248053
143MP0005464_abnormal_platelet_physiology0.48596038
144MP0000249_abnormal_blood_vessel0.47179385
145MP0005448_abnormal_energy_balance0.46144756
146MP0004885_abnormal_endolymph0.45985520
147MP0003633_abnormal_nervous_system0.45236744
148MP0008873_increased_physiological_sensi0.44015606
149MP0001853_heart_inflammation0.43965806
150MP0000647_abnormal_sebaceous_gland0.43950086
151MP0005167_abnormal_blood-brain_barrier0.43061767
152MP0002136_abnormal_kidney_physiology0.43001552
153MP0004043_abnormal_pH_regulation0.42587463
154MP0002090_abnormal_vision0.42539582
155MP0004381_abnormal_hair_follicle0.42175241
156MP0002796_impaired_skin_barrier0.41990944
157MP0002168_other_aberrant_phenotype0.41783930
158MP0009053_abnormal_anal_canal0.40290595
159MP0003631_nervous_system_phenotype0.40203484
160MP0000230_abnormal_systemic_arterial0.39718160
161MP0003718_maternal_effect0.39697283
162MP0005166_decreased_susceptibility_to0.39417191
163MP0001243_abnormal_dermal_layer0.39224370
164MP0005666_abnormal_adipose_tissue0.38204513
165MP0008874_decreased_physiological_sensi0.37938007
166MP0008438_abnormal_cutaneous_collagen0.37590288
167MP0005084_abnormal_gallbladder_morpholo0.37409734
168MP0000579_abnormal_nail_morphology0.36713111
169MP0003953_abnormal_hormone_level0.36363259

Predicted human phenotypes

RankGene SetZ-score
1Intrahepatic cholestasis (HP:0001406)7.18023217
2Abnormality of aromatic amino acid family metabolism (HP:0004338)7.15613116
3Deep venous thrombosis (HP:0002625)7.13134356
4Xanthomatosis (HP:0000991)6.35286636
5Hypobetalipoproteinemia (HP:0003563)6.10015105
6Abnormality of monocarboxylic acid metabolism (HP:0010996)6.06730616
7Prolonged partial thromboplastin time (HP:0003645)6.02753433
8Hyperlipoproteinemia (HP:0010980)5.85157786
9Hypolipoproteinemia (HP:0010981)4.58164327
10Complement deficiency (HP:0004431)4.53573714
11Epidermoid cyst (HP:0200040)4.49717995
12Hyperammonemia (HP:0001987)4.36308236
13Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.28863386
14Joint hemorrhage (HP:0005261)4.27173046
15Abnormality of methionine metabolism (HP:0010901)4.24492310
16Abnormality of the common coagulation pathway (HP:0010990)4.21349514
17Cortical dysplasia (HP:0002539)4.17482110
18Ketosis (HP:0001946)4.13385521
19Hyperglycinemia (HP:0002154)4.06705485
20Hypoglycemic coma (HP:0001325)4.06016239
21Hypoalphalipoproteinemia (HP:0003233)4.03476992
22Fat malabsorption (HP:0002630)4.00160132
23Abnormality of sulfur amino acid metabolism (HP:0004339)3.99855254
24Abnormality of aspartate family amino acid metabolism (HP:0010899)3.94600595
25Abnormality of serine family amino acid metabolism (HP:0010894)3.93984131
26Abnormality of glycine metabolism (HP:0010895)3.93984131
27Hyperglycinuria (HP:0003108)3.62960310
28Abnormality of the intrinsic pathway (HP:0010989)3.54697625
29Abnormality of glutamine family amino acid metabolism (HP:0010902)3.50235199
30Hypercholesterolemia (HP:0003124)3.46179154
31Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.39128233
32Conjugated hyperbilirubinemia (HP:0002908)3.29658959
33Abnormality of fatty-acid metabolism (HP:0004359)3.23415759
34Abnormality of complement system (HP:0005339)3.22451987
35Steatorrhea (HP:0002570)3.15641712
36Ketoacidosis (HP:0001993)3.09020011
37Hyperbilirubinemia (HP:0002904)3.08628350
38Delayed CNS myelination (HP:0002188)3.04235222
39Neurofibrillary tangles (HP:0002185)2.97969038
40Deep philtrum (HP:0002002)2.96346302
41Protrusio acetabuli (HP:0003179)2.95902170
42Abnormality of glycolysis (HP:0004366)2.92828740
43Abnormality of pyrimidine metabolism (HP:0004353)2.91991635
44Premature rupture of membranes (HP:0001788)2.91210183
45Hypoglycemic seizures (HP:0002173)2.90424827
46Myocardial infarction (HP:0001658)2.80418908
47Increased serum pyruvate (HP:0003542)2.79530717
48Skin nodule (HP:0200036)2.74420988
49Abnormality of serum amino acid levels (HP:0003112)2.72182701
50Hepatocellular carcinoma (HP:0001402)2.67911261
51Orthostatic hypotension (HP:0001278)2.62129434
52Vascular calcification (HP:0004934)2.61090108
53Abnormality of nucleobase metabolism (HP:0010932)2.59177977
54Amyloidosis (HP:0011034)2.58519505
55Termporal pattern (HP:0011008)2.56960115
56Insidious onset (HP:0003587)2.56960115
57Increased nuchal translucency (HP:0010880)2.52288297
58Acanthocytosis (HP:0001927)2.48956435
59Abnormality of dicarboxylic acid metabolism (HP:0010995)2.48281169
60Dicarboxylic aciduria (HP:0003215)2.48281169
61Metabolic acidosis (HP:0001942)2.48132754
62Irritability (HP:0000737)2.44923664
63Spontaneous abortion (HP:0005268)2.43244092
64Abnormal gallbladder morphology (HP:0012437)2.43106964
65Abnormality of purine metabolism (HP:0004352)2.42771148
66Abnormality of oral frenula (HP:0000190)2.39860777
67Mitral stenosis (HP:0001718)2.38679005
68Ankyloglossia (HP:0010296)2.37859483
69Hypochromic microcytic anemia (HP:0004840)2.37467244
70Hyperinsulinemic hypoglycemia (HP:0000825)2.35195199
71Lethargy (HP:0001254)2.34675209
72Cholecystitis (HP:0001082)2.33742254
73Abnormal gallbladder physiology (HP:0012438)2.33742254
74Cardiovascular calcification (HP:0011915)2.33568868
75Vertebral arch anomaly (HP:0008438)2.32599674
76Systemic lupus erythematosus (HP:0002725)2.31563888
77Cerebral inclusion bodies (HP:0100314)2.31553108
78Spastic diplegia (HP:0001264)2.30168165
79Relative macrocephaly (HP:0004482)2.28290327
80Subacute progressive viral hepatitis (HP:0006572)2.25335695
81Vascular tortuosity (HP:0004948)2.24803460
82Spinal cord lesions (HP:0100561)2.23286690
83Syringomyelia (HP:0003396)2.23286690
84Large earlobe (HP:0009748)2.23135777
85Nephroblastoma (Wilms tumor) (HP:0002667)2.22442815
86Vertebral compression fractures (HP:0002953)2.22179334
87Esophageal varix (HP:0002040)2.21361536
88Papillary thyroid carcinoma (HP:0002895)2.20001170
89Hypertriglyceridemia (HP:0002155)2.19109566
90Cholelithiasis (HP:0001081)2.18751350
91Polycythemia (HP:0001901)2.17595341
92Dilatation of the ascending aorta (HP:0005111)2.17061905
93Gout (HP:0001997)2.15526303
94Rhizomelia (HP:0008905)2.15223502
95Generalized hypotonia (HP:0001290)2.13785576
96Late onset (HP:0003584)2.13677733
97Glomerulonephritis (HP:0000099)2.12591375
98Overlapping toe (HP:0001845)2.12397143
99Brushfield spots (HP:0001088)2.11272415
100Sensorimotor neuropathy (HP:0007141)2.10173688
101Enlarged kidneys (HP:0000105)2.08764843
102Fatigue (HP:0012378)2.07467296
103Rickets (HP:0002748)2.05943707
104Arterial tortuosity (HP:0005116)2.05560060
105Breech presentation (HP:0001623)2.05000982
106Gonadotropin excess (HP:0000837)2.04503616
107Opisthotonus (HP:0002179)2.04066300
108Gingival bleeding (HP:0000225)2.03561770
109Hypophosphatemic rickets (HP:0004912)2.02149064
110Cerebral edema (HP:0002181)2.01103669
111Asymmetry of the thorax (HP:0001555)2.00219682
112Nonimmune hydrops fetalis (HP:0001790)2.00030127
113Osteolytic defects of the phalanges of the hand (HP:0009771)1.99580812
114Osteolytic defects of the hand bones (HP:0009699)1.99580812
115Embryonal renal neoplasm (HP:0011794)1.99405596
116Abnormality of the gallbladder (HP:0005264)1.98522597
117Malnutrition (HP:0004395)1.98199999
118Pancreatitis (HP:0001733)1.98181814
119Metaphyseal cupping (HP:0003021)1.96285184
120Generalized aminoaciduria (HP:0002909)1.95570064
121Biconcave vertebral bodies (HP:0004586)1.95400566
122Tetraparesis (HP:0002273)1.94496133
123Symptomatic seizures (HP:0011145)1.92379596
124Vomiting (HP:0002013)1.92282455
125Abnormal enzyme/coenzyme activity (HP:0012379)1.91032708
126Spastic paraparesis (HP:0002313)1.89679679
127Vertebral hypoplasia (HP:0008417)1.88901917
128Aplasia/Hypoplasia of the vertebrae (HP:0008515)1.88901917
129Acute myeloid leukemia (HP:0004808)1.87938931
130Rhabdomyosarcoma (HP:0002859)1.87752013
131Thrombophlebitis (HP:0004418)1.87369142
132Hemorrhage of the eye (HP:0011885)1.86475868
133Neonatal onset (HP:0003623)1.85384266
134Back pain (HP:0003418)1.85309040
135Abnormal platelet volume (HP:0011876)1.85279301
136Hepatosplenomegaly (HP:0001433)1.84655556
137Pulmonary embolism (HP:0002204)1.83886771
138Hammertoe (HP:0001765)1.83589553
139Renal cortical cysts (HP:0000803)1.82961233
140Deviation of the thumb (HP:0009603)1.82429200
141Pseudobulbar signs (HP:0002200)1.82248376
142Turricephaly (HP:0000262)1.81282089
143Increased mean platelet volume (HP:0011877)1.81205218
144Abnormality of the anterior horn cell (HP:0006802)1.80976843
145Degeneration of anterior horn cells (HP:0002398)1.80976843
146Menorrhagia (HP:0000132)1.79938306
147Capillary hemangiomas (HP:0005306)1.78952244
148Epiphyseal stippling (HP:0010655)1.78389332
149Abnormality of vitamin metabolism (HP:0100508)1.78083790
150Acanthosis nigricans (HP:0000956)1.77658298
151Decreased skull ossification (HP:0004331)1.76638288
152Alkalosis (HP:0001948)1.75815997
153Elevated alkaline phosphatase (HP:0003155)1.75720655
154Ectopia lentis (HP:0001083)1.74316972
155Acute hepatic failure (HP:0006554)1.73931183
156Cerebral hemorrhage (HP:0001342)1.71811047
157Peritonitis (HP:0002586)1.71444375
158Uterine leiomyosarcoma (HP:0002891)1.71057696
159Leiomyosarcoma (HP:0100243)1.71057696
160Abnormality of skull ossification (HP:0002703)1.70801709
161Proximal placement of thumb (HP:0009623)1.68215558
162Thyroid carcinoma (HP:0002890)1.67111872
163Ankle contracture (HP:0006466)1.65655146
164Gastrointestinal carcinoma (HP:0002672)1.62276041
165Malignant gastrointestinal tract tumors (HP:0006749)1.62276041
166Secondary amenorrhea (HP:0000869)1.62265602
167Mitral valve prolapse (HP:0001634)1.61353717
168Pancreatic islet-cell hyperplasia (HP:0004510)1.60813468
169Transitional cell carcinoma of the bladder (HP:0006740)1.60660927
170Absent frontal sinuses (HP:0002688)1.60485657
171Hand muscle atrophy (HP:0009130)1.60028704
172Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.58204368
173Medulloblastoma (HP:0002885)1.57150128
174Hypokinesia (HP:0002375)1.56626300
175Upper motor neuron abnormality (HP:0002127)1.56046601
176Large hands (HP:0001176)1.55630884
177Abnormality of the hip-girdle musculature (HP:0001445)1.54377461
178Abnormality of the musculature of the pelvis (HP:0001469)1.54377461
179Abnormal lung lobation (HP:0002101)1.54247844
180Arnold-Chiari malformation (HP:0002308)1.53765998
181Long palpebral fissure (HP:0000637)1.53538506
182Cervical subluxation (HP:0003308)1.53042490
183Pelvic girdle muscle weakness (HP:0003749)1.52352596
184Abnormal foot bone ossification (HP:0010675)1.51616526
185Disproportionate tall stature (HP:0001519)1.51293937
186Abnormality of the peritoneum (HP:0002585)1.51171717
187Ulnar bowing (HP:0003031)1.50656762
188Wormian bones (HP:0002645)1.50531200

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK5.78872059
2SIK14.75346350
3FGFR43.77647914
4EPHB13.54142935
5ERN13.51668552
6TSSK62.92658479
7FGFR22.72264232
8INSRR2.56676077
9TAOK32.51057062
10TTK2.43767380
11SRPK12.37542177
12TRIB32.19561722
13ERBB42.15176902
14EIF2AK12.13980919
15CDC72.12109749
16PRPF4B2.09157994
17YES12.05313817
18STK392.03618210
19CDK121.97667370
20MET1.93348587
21CLK11.81922284
22SCYL21.80454397
23FLT31.68560167
24PBK1.68259129
25MST1R1.66785440
26MKNK11.64239048
27PIK3CG1.61512927
28PKN21.60105907
29BRD41.58535040
30PTK61.54358010
31SMG11.53144673
32EEF2K1.48122115
33KDR1.47393301
34BUB11.44760721
35SIK31.41664967
36PAK41.40976942
37WEE11.39392783
38NEK11.39340484
39LATS21.35976194
40TIE11.34014709
41PLK31.33850188
42ICK1.32107866
43MAP2K41.30737001
44CAMK1D1.29001369
45BRSK21.27825763
46MAP3K101.26706971
47DYRK31.24666878
48MAPKAPK51.23915202
49TYK21.22574993
50ALK1.21260922
51RPS6KA41.21089695
52RIPK41.13952128
53LATS11.13506920
54JAK21.11118532
55MAPK111.10445630
56KSR11.06886297
57TAOK21.06268252
58GSK3A1.05137178
59MAP3K81.05117425
60MAPK151.04671764
61ABL21.02204390
62NTRK11.01998755
63JAK11.00034709
64PRKAA20.98977922
65PKN10.97607292
66ITK0.97132226
67CDK40.95378227
68TAF10.93992763
69MKNK20.93566737
70FER0.93545142
71MAP3K60.93139638
72CAMK1G0.92908166
73CDK70.92648671
74CSNK1G10.92353174
75EIF2AK30.92073130
76PRKCQ0.90309098
77MST40.89915245
78SGK4940.89369751
79SGK2230.89369751
80TESK20.89155803
81MAPK120.88560481
82MAPK40.88486568
83GRK60.86916677
84TGFBR20.85765021
85FGR0.85090718
86TRIM280.84819244
87CSK0.83979210
88TESK10.83885924
89EPHA30.82463606
90CSNK1G30.81932514
91MAP3K70.80825957
92BMPR20.80598110
93NEK90.80037605
94BRSK10.79752754
95ERBB20.79419728
96RAF10.77404919
97ERBB30.76759525
98IGF1R0.75653532
99CSNK1G20.75638756
100OXSR10.74703313
101CSNK1A1L0.74466953
102PRKACG0.74179792
103NEK20.73518524
104DAPK20.70677303
105PDPK10.70093931
106CAMK2G0.69446549
107PTK20.68795987
108JAK30.67439101
109LRRK20.65733995
110MAP3K140.65338380
111MAP3K30.64932210
112PRKCZ0.63381612
113TBK10.63306736
114STK30.63219775
115FRK0.62856999
116WNK40.62821196
117CHEK10.62181118
118PLK40.61562863
119MAPK70.61327771
120PDK20.60971077
121PRKD10.60148333
122MOS0.60130842
123STK100.58884676
124PASK0.58664897
125RET0.58401854
126EIF2AK20.57396022
127FGFR10.56425038
128DYRK1B0.56148464
129PAK30.54736466
130CSF1R0.53536532
131FGFR30.53293706
132MAP3K130.52870990
133NEK60.52033605
134CDK60.51905771
135CDK140.51711598
136STK40.51335743
137MAP3K50.50888827
138PLK10.50230107
139ATR0.49433760
140MAP2K30.48860260
141MAP3K20.48793265
142EGFR0.47790985
143CDK180.47701174
144PDGFRA0.47480782
145PAK20.46819564
146BCR0.45993921
147AKT30.45663055
148ZAP700.45641513
149SGK30.40854430
150PDK10.40020328
151NLK0.38838228
152PRKCH0.37708448
153MAP2K20.37372046
154GRK10.36034990
155RIPK10.34878728
156BMX0.34845665
157MAP3K10.34421682
158IRAK10.33617101
159PDGFRB0.32612809
160PRKAA10.32212825
161PINK10.32209675
162KSR20.32100570
163PRKACB0.31721556
164PIK3CA0.30824646
165BTK0.29813637

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.08373958
2Nitrogen metabolism_Homo sapiens_hsa009104.00418467
3* Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010403.24002393
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.11080688
5Arginine biosynthesis_Homo sapiens_hsa002202.65755107
6Fatty acid degradation_Homo sapiens_hsa000712.61759857
7Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.57385737
8Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.55169374
9Tryptophan metabolism_Homo sapiens_hsa003802.53116404
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.50065625
11Complement and coagulation cascades_Homo sapiens_hsa046102.46112061
12Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.45307414
13Butanoate metabolism_Homo sapiens_hsa006502.28746806
14Steroid biosynthesis_Homo sapiens_hsa001002.22251742
15* Fatty acid metabolism_Homo sapiens_hsa012122.15546819
16Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.13701340
17Propanoate metabolism_Homo sapiens_hsa006402.10972544
18Histidine metabolism_Homo sapiens_hsa003402.10942982
19Peroxisome_Homo sapiens_hsa041462.10807641
20Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.10773709
21Pentose and glucuronate interconversions_Homo sapiens_hsa000401.99791356
22PPAR signaling pathway_Homo sapiens_hsa033201.96358518
23* Fatty acid elongation_Homo sapiens_hsa000621.93685389
24Steroid hormone biosynthesis_Homo sapiens_hsa001401.91439330
25Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.86000203
26Chemical carcinogenesis_Homo sapiens_hsa052041.85222245
27Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.81812728
28Thyroid cancer_Homo sapiens_hsa052161.80066147
29Mismatch repair_Homo sapiens_hsa034301.75209258
30DNA replication_Homo sapiens_hsa030301.73919399
31Cell cycle_Homo sapiens_hsa041101.71718057
32Caffeine metabolism_Homo sapiens_hsa002321.65752905
33Sulfur metabolism_Homo sapiens_hsa009201.65378181
34beta-Alanine metabolism_Homo sapiens_hsa004101.63612637
35Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.62908838
36Retinol metabolism_Homo sapiens_hsa008301.61783626
37Staphylococcus aureus infection_Homo sapiens_hsa051501.51946588
38Drug metabolism - other enzymes_Homo sapiens_hsa009831.49900866
39Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.48234832
40Bile secretion_Homo sapiens_hsa049761.47523803
41Non-homologous end-joining_Homo sapiens_hsa034501.46792550
42Pyruvate metabolism_Homo sapiens_hsa006201.46299701
43Adherens junction_Homo sapiens_hsa045201.44102321
44Chronic myeloid leukemia_Homo sapiens_hsa052201.40173483
45Spliceosome_Homo sapiens_hsa030401.38392482
46Selenocompound metabolism_Homo sapiens_hsa004501.35507188
47Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.34440104
48Tyrosine metabolism_Homo sapiens_hsa003501.31584375
49Phenylalanine metabolism_Homo sapiens_hsa003601.29858589
50mRNA surveillance pathway_Homo sapiens_hsa030151.28542682
51Fatty acid biosynthesis_Homo sapiens_hsa000611.28523622
52Pancreatic cancer_Homo sapiens_hsa052121.23884906
53RNA transport_Homo sapiens_hsa030131.22434320
542-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.22057297
55Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.19247034
56Prostate cancer_Homo sapiens_hsa052151.17254119
57ABC transporters_Homo sapiens_hsa020101.16896301
58Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.15373614
59Acute myeloid leukemia_Homo sapiens_hsa052211.15069562
60Folate biosynthesis_Homo sapiens_hsa007901.13511991
61Starch and sucrose metabolism_Homo sapiens_hsa005001.12926635
62Cysteine and methionine metabolism_Homo sapiens_hsa002701.12548338
63Fat digestion and absorption_Homo sapiens_hsa049751.12526639
64Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.04747905
65Renal cell carcinoma_Homo sapiens_hsa052111.04604668
66Arginine and proline metabolism_Homo sapiens_hsa003301.04000824
67Biosynthesis of amino acids_Homo sapiens_hsa012301.03877287
68Maturity onset diabetes of the young_Homo sapiens_hsa049501.03038786
69Endometrial cancer_Homo sapiens_hsa052131.02657781
70Carbon metabolism_Homo sapiens_hsa012001.02358157
71Colorectal cancer_Homo sapiens_hsa052101.01944588
72Non-small cell lung cancer_Homo sapiens_hsa052230.99614983
73Vitamin B6 metabolism_Homo sapiens_hsa007500.99409348
74Vitamin digestion and absorption_Homo sapiens_hsa049770.93196419
75Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.92129403
76Base excision repair_Homo sapiens_hsa034100.91871285
77Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.91496656
78MicroRNAs in cancer_Homo sapiens_hsa052060.90630771
79Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.87436261
80Nucleotide excision repair_Homo sapiens_hsa034200.86835294
81Measles_Homo sapiens_hsa051620.83480791
82Hepatitis B_Homo sapiens_hsa051610.81587446
83Proteoglycans in cancer_Homo sapiens_hsa052050.79878381
84Small cell lung cancer_Homo sapiens_hsa052220.79493167
85Shigellosis_Homo sapiens_hsa051310.77579658
86Sulfur relay system_Homo sapiens_hsa041220.74383330
87Cyanoamino acid metabolism_Homo sapiens_hsa004600.73783822
88Glycerolipid metabolism_Homo sapiens_hsa005610.73712789
89Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.73244790
90Legionellosis_Homo sapiens_hsa051340.72294226
91Lysine degradation_Homo sapiens_hsa003100.71751458
92Glutathione metabolism_Homo sapiens_hsa004800.69765425
93AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.67383784
94Viral carcinogenesis_Homo sapiens_hsa052030.65415557
95Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.65216375
96N-Glycan biosynthesis_Homo sapiens_hsa005100.61744069
97Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.60664210
98Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.59273571
99Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.59097706
100HIF-1 signaling pathway_Homo sapiens_hsa040660.59072263
101HTLV-I infection_Homo sapiens_hsa051660.55311634
102Focal adhesion_Homo sapiens_hsa045100.55301997
103One carbon pool by folate_Homo sapiens_hsa006700.54522491
104Pentose phosphate pathway_Homo sapiens_hsa000300.53336741
105alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.52922639
106Oocyte meiosis_Homo sapiens_hsa041140.51628290
107Leukocyte transendothelial migration_Homo sapiens_hsa046700.51204901
108Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.50143756
109Prolactin signaling pathway_Homo sapiens_hsa049170.46832187
110T cell receptor signaling pathway_Homo sapiens_hsa046600.46749276
111Metabolic pathways_Homo sapiens_hsa011000.45896190
112Proteasome_Homo sapiens_hsa030500.45596487
113Basal transcription factors_Homo sapiens_hsa030220.45090047
114Herpes simplex infection_Homo sapiens_hsa051680.44928153
115Apoptosis_Homo sapiens_hsa042100.43839927
116Epstein-Barr virus infection_Homo sapiens_hsa051690.40867126
117Jak-STAT signaling pathway_Homo sapiens_hsa046300.40565092
118Linoleic acid metabolism_Homo sapiens_hsa005910.39824289
119Notch signaling pathway_Homo sapiens_hsa043300.39806756
120Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.39451052
121Longevity regulating pathway - mammal_Homo sapiens_hsa042110.38862349
122p53 signaling pathway_Homo sapiens_hsa041150.38010921
123Thyroid hormone signaling pathway_Homo sapiens_hsa049190.37552030
124B cell receptor signaling pathway_Homo sapiens_hsa046620.37174097
125Glioma_Homo sapiens_hsa052140.36987832
126mTOR signaling pathway_Homo sapiens_hsa041500.35949336
127Osteoclast differentiation_Homo sapiens_hsa043800.35625552
128Pathways in cancer_Homo sapiens_hsa052000.34744362
129Prion diseases_Homo sapiens_hsa050200.29727587
130Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.26848571
131Adipocytokine signaling pathway_Homo sapiens_hsa049200.26560639
132Glycerophospholipid metabolism_Homo sapiens_hsa005640.25007140
133Ether lipid metabolism_Homo sapiens_hsa005650.22034794
134Insulin resistance_Homo sapiens_hsa049310.20011590
135Ovarian steroidogenesis_Homo sapiens_hsa049130.14868390
136Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.13680764
137Galactose metabolism_Homo sapiens_hsa000520.11598188
138Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.06512729
139Fructose and mannose metabolism_Homo sapiens_hsa000510.05190697
140AMPK signaling pathway_Homo sapiens_hsa041520.00575122
141Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.2142205
142Regulation of lipolysis in adipocytes_Homo sapiens_hsa04923-0.1945786
143Insulin signaling pathway_Homo sapiens_hsa04910-0.1879509
144Malaria_Homo sapiens_hsa05144-0.1822943
145Carbohydrate digestion and absorption_Homo sapiens_hsa04973-0.1764292
146Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.1725462
147Mineral absorption_Homo sapiens_hsa04978-0.1657867
148Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1608083
149African trypanosomiasis_Homo sapiens_hsa05143-0.1580373
150Hepatitis C_Homo sapiens_hsa05160-0.1468241
151Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.1316041
152Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1190446
153Arachidonic acid metabolism_Homo sapiens_hsa00590-0.1134063
154Renin-angiotensin system_Homo sapiens_hsa04614-0.0970929
155Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.0683788
156Protein export_Homo sapiens_hsa03060-0.0601719
157Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.0555536
158Lysosome_Homo sapiens_hsa04142-0.0180670
159Glucagon signaling pathway_Homo sapiens_hsa04922-0.0047807

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