COA5

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





Description: This gene encodes an ortholog of yeast Pet191, which in yeast is a subunit of a large oligomeric complex associated with the mitochondrial inner membrane, and required for the assembly of the cytochrome c oxidase complex. Mutations in this gene are associated with mitochondrial complex IV deficiency, a disorder of the mitochondrial respiratory chain with heterogeneous clinical manifestations, ranging from isolated myopathy to a severe disease affecting several tissues and organs. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1establishment of protein localization to mitochondrial membrane (GO:0090151)4.76038954
2lysine catabolic process (GO:0006554)4.70911345
3lysine metabolic process (GO:0006553)4.70911345
4valine metabolic process (GO:0006573)4.69886250
5ATP synthesis coupled proton transport (GO:0015986)4.54395309
6energy coupled proton transport, down electrochemical gradient (GO:0015985)4.54395309
7mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.50615929
8antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.40065355
9antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.40065355
10protein complex biogenesis (GO:0070271)4.32063861
11mitochondrial respiratory chain complex I assembly (GO:0032981)4.27845708
12NADH dehydrogenase complex assembly (GO:0010257)4.27845708
13mitochondrial respiratory chain complex I biogenesis (GO:0097031)4.27845708
14mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.18234224
152-oxoglutarate metabolic process (GO:0006103)4.18167994
16tricarboxylic acid cycle (GO:0006099)4.11539720
17antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.09176574
18nonmotile primary cilium assembly (GO:0035058)4.05247972
19chaperone-mediated protein transport (GO:0072321)4.03456912
20fatty acid transmembrane transport (GO:1902001)4.00980911
21antigen processing and presentation of endogenous antigen (GO:0019883)3.99865151
22mitochondrial respiratory chain complex assembly (GO:0033108)3.98454716
23alpha-linolenic acid metabolic process (GO:0036109)3.83786370
24carnitine shuttle (GO:0006853)3.83165990
25tricarboxylic acid metabolic process (GO:0072350)3.78748509
26oxaloacetate metabolic process (GO:0006107)3.72140460
27regulation of sequestering of triglyceride (GO:0010889)3.67302724
28presynaptic membrane assembly (GO:0097105)3.64408122
29water-soluble vitamin biosynthetic process (GO:0042364)3.62726328
30fatty acid beta-oxidation (GO:0006635)3.54480972
31fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.54206042
32response to nitrosative stress (GO:0051409)3.52326840
33cullin deneddylation (GO:0010388)3.52211277
34sequestering of actin monomers (GO:0042989)3.49844590
35low-density lipoprotein particle clearance (GO:0034383)3.46271877
36respiratory electron transport chain (GO:0022904)3.46179921
37intraciliary transport (GO:0042073)3.45427415
38electron transport chain (GO:0022900)3.43021584
39proteasome assembly (GO:0043248)3.40903806
40carnitine metabolic process (GO:0009437)3.39791778
41regulation of cholesterol storage (GO:0010885)3.33335556
42amino-acid betaine metabolic process (GO:0006577)3.29947655
43regulation of cilium movement (GO:0003352)3.28721359
44epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.25796127
45homocysteine metabolic process (GO:0050667)3.22899523
46positive regulation of amino acid transport (GO:0051957)3.21280854
47regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)3.18873257
48nuclear-transcribed mRNA catabolic process, exonucleolytic (GO:0000291)3.18694927
49fatty acid oxidation (GO:0019395)3.18340566
50epithelial cilium movement (GO:0003351)3.17335303
51presynaptic membrane organization (GO:0097090)3.16930458
52intracellular protein transmembrane import (GO:0044743)3.15483248
53positive regulation of fatty acid beta-oxidation (GO:0032000)3.15171331
54lipid oxidation (GO:0034440)3.14319194
55regulation of fatty acid beta-oxidation (GO:0031998)3.12980942
56regulation of triglyceride catabolic process (GO:0010896)3.12666760
57kynurenine metabolic process (GO:0070189)3.11660472
58GPI anchor metabolic process (GO:0006505)3.11354518
59tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)3.10490761
60RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)3.10490761
61regulation of fatty acid oxidation (GO:0046320)3.08620861
62succinate metabolic process (GO:0006105)3.08295630
63exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay 3.07938874
64positive regulation of interferon-alpha production (GO:0032727)3.07369361
65iron-sulfur cluster assembly (GO:0016226)3.07323140
66metallo-sulfur cluster assembly (GO:0031163)3.07323140
67triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.05429270
68polyketide metabolic process (GO:0030638)3.03882752
69doxorubicin metabolic process (GO:0044598)3.03882752
70daunorubicin metabolic process (GO:0044597)3.03882752
71axoneme assembly (GO:0035082)3.03762841
72protein deneddylation (GO:0000338)3.02948492
73organelle disassembly (GO:1903008)3.02324756
74carnitine transmembrane transport (GO:1902603)3.01754887
75aldehyde catabolic process (GO:0046185)3.00359765
76protein-cofactor linkage (GO:0018065)3.00306612
77neural tube formation (GO:0001841)2.99183385
78fatty acid catabolic process (GO:0009062)2.97644300
79pentose-phosphate shunt (GO:0006098)2.97499903
80branched-chain amino acid metabolic process (GO:0009081)2.97102161
81regulation of hexokinase activity (GO:1903299)2.96108836
82regulation of glucokinase activity (GO:0033131)2.96108836
83positive regulation of lipid storage (GO:0010884)2.95938241
84aspartate family amino acid catabolic process (GO:0009068)2.94897753
85NADH metabolic process (GO:0006734)2.94764494
86dicarboxylic acid biosynthetic process (GO:0043650)2.92470203
87glyoxylate metabolic process (GO:0046487)2.91871400
88GPI anchor biosynthetic process (GO:0006506)2.91403420
89detection of calcium ion (GO:0005513)2.90779564
90carnitine transport (GO:0015879)2.89785904
91amino-acid betaine transport (GO:0015838)2.89785904
92cellular response to zinc ion (GO:0071294)2.89239936
93complement activation, alternative pathway (GO:0006957)2.89000237
94positive regulation of lipid catabolic process (GO:0050996)2.88118072
95ribonucleoprotein complex disassembly (GO:0032988)2.88065125
96negative regulation of neurotransmitter transport (GO:0051589)2.87782618
97acetyl-CoA metabolic process (GO:0006084)2.87324196
98regulation of interferon-alpha production (GO:0032647)2.87191988
99ATP biosynthetic process (GO:0006754)2.84186990
100positive regulation of prostaglandin secretion (GO:0032308)2.83761540
101DNA double-strand break processing (GO:0000729)2.82774047
102cilium movement (GO:0003341)2.81719969
103branched-chain amino acid catabolic process (GO:0009083)2.79617594
104positive regulation of mitochondrial fission (GO:0090141)2.79089795
105respiratory chain complex IV assembly (GO:0008535)2.79009217
106cysteine metabolic process (GO:0006534)2.78885652
107protein neddylation (GO:0045116)2.78823372
108positive regulation of fatty acid oxidation (GO:0046321)2.78271769
109termination of RNA polymerase III transcription (GO:0006386)2.78022479
110transcription elongation from RNA polymerase III promoter (GO:0006385)2.78022479
111cilium organization (GO:0044782)2.77146572
112monocarboxylic acid catabolic process (GO:0072329)2.74980443
113plasma lipoprotein particle clearance (GO:0034381)2.74964705
114NADPH regeneration (GO:0006740)2.74602516
115C4-dicarboxylate transport (GO:0015740)2.74496473
116protein polyglutamylation (GO:0018095)2.73550860
117cilium morphogenesis (GO:0060271)2.73543373
118cilium assembly (GO:0042384)2.73174673
119pyrimidine deoxyribonucleotide catabolic process (GO:0009223)2.72727648
120pyrimidine nucleobase catabolic process (GO:0006208)2.69644621
121oxidative phosphorylation (GO:0006119)2.68900482
122mannosylation (GO:0097502)2.67914851
123short-chain fatty acid metabolic process (GO:0046459)2.66685196
124cytochrome complex assembly (GO:0017004)2.66148971
125biotin metabolic process (GO:0006768)2.65733985
126serotonin receptor signaling pathway (GO:0007210)2.65730516
127purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.65622010
128regulation of interferon-beta biosynthetic process (GO:0045357)2.65540337
129purine nucleoside triphosphate biosynthetic process (GO:0009145)2.65127625
130positive regulation of natural killer cell differentiation (GO:0032825)2.64912549
131protein localization to cilium (GO:0061512)2.64885768
132peptidyl-histidine modification (GO:0018202)2.64630879
133L-methionine biosynthetic process from methylthioadenosine (GO:0019509)2.63706774
134ethanol oxidation (GO:0006069)2.61953846
135preassembly of GPI anchor in ER membrane (GO:0016254)2.60974440
136positive regulation of heterotypic cell-cell adhesion (GO:0034116)2.60966179
137sulfur amino acid catabolic process (GO:0000098)2.60346533
138urea cycle (GO:0000050)2.59760144
139urea metabolic process (GO:0019627)2.59760144
140regulation of acyl-CoA biosynthetic process (GO:0050812)2.58567873
141regulation of coenzyme metabolic process (GO:0051196)2.58429908
142regulation of cofactor metabolic process (GO:0051193)2.58429908
143positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.57487173
144chromatin remodeling at centromere (GO:0031055)2.57328611
145CENP-A containing nucleosome assembly (GO:0034080)2.57183277
146indole-containing compound catabolic process (GO:0042436)2.56913037
147indolalkylamine catabolic process (GO:0046218)2.56913037
148tryptophan catabolic process (GO:0006569)2.56913037
149establishment of protein localization to mitochondrion (GO:0072655)2.56879443
150phospholipid homeostasis (GO:0055091)2.56370603
151erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.56198859
152L-phenylalanine metabolic process (GO:0006558)2.56198859
153peptidyl-glutamic acid carboxylation (GO:0017187)2.56073923
154protein carboxylation (GO:0018214)2.56073923
155neuron cell-cell adhesion (GO:0007158)2.55097604
156negative regulation of neurotransmitter secretion (GO:0046929)2.54934725
157neuron fate determination (GO:0048664)2.54589111
158hydrogen ion transmembrane transport (GO:1902600)2.54477639
159negative regulation of response to food (GO:0032096)2.52954072
160negative regulation of appetite (GO:0032099)2.52954072
161protein targeting to mitochondrion (GO:0006626)2.52759282
162regulation of protein activation cascade (GO:2000257)2.51940115
163positive regulation by symbiont of host defense response (GO:0052509)2.51884054
164modulation by symbiont of host defense response (GO:0052031)2.51884054
165modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.51884054
166modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.51884054
167positive regulation by organism of defense response of other organism involved in symbiotic interact2.51884054
168modulation by symbiont of host immune response (GO:0052553)2.51884054
169platelet dense granule organization (GO:0060155)2.50741557
170aromatic amino acid family catabolic process (GO:0009074)2.50445918
171production of molecular mediator involved in inflammatory response (GO:0002532)2.50297432
172tryptophan metabolic process (GO:0006568)2.48751972
173protein localization to mitochondrion (GO:0070585)2.47508720
174DNA integration (GO:0015074)2.47012304
175Arp2/3 complex-mediated actin nucleation (GO:0034314)2.46625225
176positive regulation of organic acid transport (GO:0032892)2.46206919
177response to pheromone (GO:0019236)2.45994010
178regulation of complement activation (GO:0030449)2.45991986
179hydrogen peroxide biosynthetic process (GO:0050665)2.45474142
180proton transport (GO:0015992)2.45136248
181aggressive behavior (GO:0002118)2.44491050
182negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)2.44482051
183positive regulation of triglyceride metabolic process (GO:0090208)2.44444897
184ribosomal small subunit assembly (GO:0000028)2.43425249
185intracellular lipid transport (GO:0032365)2.43178447
186quaternary ammonium group transport (GO:0015697)2.42778022
187hydrogen transport (GO:0006818)2.42174662
188antigen processing and presentation via MHC class Ib (GO:0002475)2.41576162
189intracellular protein transmembrane transport (GO:0065002)2.41159945
190negative regulation of fatty acid biosynthetic process (GO:0045717)2.39987256
191xenobiotic catabolic process (GO:0042178)2.39902930
192inner mitochondrial membrane organization (GO:0007007)2.39687336
193triglyceride catabolic process (GO:0019433)2.39353383
194negative regulation of transcription regulatory region DNA binding (GO:2000678)2.37762494
195pyrimidine nucleotide catabolic process (GO:0006244)2.36711588
196sarcomere organization (GO:0045214)2.36321596
197retinal ganglion cell axon guidance (GO:0031290)2.35883474
198erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.35452464

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.51223535
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse5.10745741
3IRF8_22096565_ChIP-ChIP_GC-B_Human4.08804656
4FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.63431534
5RXR_22158963_ChIP-Seq_LIVER_Mouse3.57296215
6PPARA_22158963_ChIP-Seq_LIVER_Mouse3.52338946
7IGF1R_20145208_ChIP-Seq_DFB_Human3.23415566
8TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse3.06525372
9GATA1_22025678_ChIP-Seq_K562_Human2.95609005
10E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.94582273
11ZNF274_21170338_ChIP-Seq_K562_Hela2.90790047
12GABP_17652178_ChIP-ChIP_JURKAT_Human2.89243328
13KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.87539053
14IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.81247750
15LXR_22158963_ChIP-Seq_LIVER_Mouse2.74177780
16HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.70526760
17POU3F2_20337985_ChIP-ChIP_501MEL_Human2.70278927
18NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.68875301
19EST1_17652178_ChIP-ChIP_JURKAT_Human2.59574248
20EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.50530647
21IRF8_21731497_ChIP-ChIP_J774_Mouse2.50386581
22EGR1_19374776_ChIP-ChIP_THP-1_Human2.45012197
23VDR_22108803_ChIP-Seq_LS180_Human2.43301573
24FUS_26573619_Chip-Seq_HEK293_Human2.41957963
25HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.41284981
26ZFP57_27257070_Chip-Seq_ESCs_Mouse2.34229667
27EWS_26573619_Chip-Seq_HEK293_Human2.31480556
28E2F7_22180533_ChIP-Seq_HELA_Human2.31156806
29TAF15_26573619_Chip-Seq_HEK293_Human2.23606405
30MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.23193186
31GBX2_23144817_ChIP-Seq_PC3_Human2.16718989
32NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.15988479
33CLOCK_20551151_ChIP-Seq_293T_Human2.13035786
34EGR1_23403033_ChIP-Seq_LIVER_Mouse2.12332642
35IRF1_19129219_ChIP-ChIP_H3396_Human2.09052633
36GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.06784380
37FLI1_27457419_Chip-Seq_LIVER_Mouse2.06432331
38RBPJ_22232070_ChIP-Seq_NCS_Mouse2.06381199
39MYB_21317192_ChIP-Seq_ERMYB_Mouse2.04973821
40STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.02091418
41IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.01845486
42BP1_19119308_ChIP-ChIP_Hs578T_Human2.00734096
43MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.00049730
44ELK1_19687146_ChIP-ChIP_HELA_Human1.99443270
45FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.97733927
46VDR_23849224_ChIP-Seq_CD4+_Human1.95703835
47CTBP2_25329375_ChIP-Seq_LNCAP_Human1.94006188
48MYC_22102868_ChIP-Seq_BL_Human1.93049258
49P300_19829295_ChIP-Seq_ESCs_Human1.91247196
50STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.86055719
51IRF8_27001747_Chip-Seq_BMDM_Mouse1.85693131
52CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.82773500
53GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.80173370
54CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.76081247
55SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.74220934
56SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.74217237
57NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.71848187
58EZH2_22144423_ChIP-Seq_EOC_Human1.71254003
59BRD4_27068464_Chip-Seq_AML-cells_Mouse1.69487503
60NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.63869168
61RARG_19884340_ChIP-ChIP_MEFs_Mouse1.63332938
62ETS1_20019798_ChIP-Seq_JURKAT_Human1.61851420
63CTBP1_25329375_ChIP-Seq_LNCAP_Human1.60763891
64NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.60105926
65PCGF2_27294783_Chip-Seq_ESCs_Mouse1.57410148
66MYC_18940864_ChIP-ChIP_HL60_Human1.56432851
67RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.55688607
68FOXP3_21729870_ChIP-Seq_TREG_Human1.54562243
69TP53_22573176_ChIP-Seq_HFKS_Human1.54534228
70MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.54073320
71JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.53307956
72RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.53102339
73SRF_21415370_ChIP-Seq_HL-1_Mouse1.52834523
74CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.51991572
75MAF_26560356_Chip-Seq_TH1_Human1.50629698
76CREB1_15753290_ChIP-ChIP_HEK293T_Human1.50419986
77FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.47592350
78* ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.44315766
79SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.44196152
80ER_23166858_ChIP-Seq_MCF-7_Human1.43609986
81NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.43266776
82CBX2_27304074_Chip-Seq_ESCs_Mouse1.42141072
83SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.41653515
84VDR_21846776_ChIP-Seq_THP-1_Human1.40610076
85POU5F1_16153702_ChIP-ChIP_HESCs_Human1.40459958
86STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.40411295
87Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.39318710
88MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.38459255
89RNF2_27304074_Chip-Seq_NSC_Mouse1.37560487
90FOXP2_21765815_ChIP-ChIP_NEURO2A_Mouse1.35087466
91CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.34807457
92STAT4_19710469_ChIP-ChIP_TH1__Mouse1.34683134
93SCL_19346495_ChIP-Seq_HPC-7_Human1.34405183
94TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.33168236
95CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.32922025
96THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.31381171
97AR_25329375_ChIP-Seq_VCAP_Human1.30968691
98* FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.29219663
99EZH2_27294783_Chip-Seq_NPCs_Mouse1.27954500
100UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.26613110
101HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.25840576
102SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.25694901
103SOX2_19829295_ChIP-Seq_ESCs_Human1.25619026
104NANOG_19829295_ChIP-Seq_ESCs_Human1.25619026
105MYB_26560356_Chip-Seq_TH2_Human1.25515344
106EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.25385045
107RUNX1_22412390_ChIP-Seq_EML_Mouse1.22709857
108ZNF263_19887448_ChIP-Seq_K562_Human1.21260176
109TCF7_22412390_ChIP-Seq_EML_Mouse1.20737721
110* SPI1_23547873_ChIP-Seq_NB4_Human1.20645568
111SUZ12_27294783_Chip-Seq_NPCs_Mouse1.20583494
112NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.19902345
113* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.19319748
114GATA1_22383799_ChIP-Seq_G1ME_Mouse1.19222320
115RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.19213857
116AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.18911270
117SMAD4_21799915_ChIP-Seq_A2780_Human1.18394388
118UTX_26944678_Chip-Seq_JUKART_Human1.18355332
119PADI4_21655091_ChIP-ChIP_MCF-7_Human1.17736389
120TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.17667131
121TOP2B_26459242_ChIP-Seq_MCF-7_Human1.16784445
122ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.15951838
123CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.15703388
124BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.15464265
125MYB_26560356_Chip-Seq_TH1_Human1.14774368
126TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.14733964
127TAL1_26923725_Chip-Seq_HPCs_Mouse1.13884752
128NANOG_18555785_Chip-Seq_ESCs_Mouse1.13591154
129PIAS1_25552417_ChIP-Seq_VCAP_Human1.13498519
130EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.13012797
131FOXA1_21572438_ChIP-Seq_LNCaP_Human1.12739844
132BCAT_22108803_ChIP-Seq_LS180_Human1.11889110
133FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.11579165
134TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.11301434
135KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.11236840
136NFE2_27457419_Chip-Seq_LIVER_Mouse1.11006780
137ELK3_25401928_ChIP-Seq_HUVEC_Human1.10482096
138STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.10000112
139TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.09985663
140STAT3_1855785_ChIP-Seq_MESCs_Mouse1.08806416
141GATA2_22383799_ChIP-Seq_G1ME_Mouse1.07783201
142P53_22387025_ChIP-Seq_ESCs_Mouse1.07765948
143HTT_18923047_ChIP-ChIP_STHdh_Human1.07170785
144KLF5_20875108_ChIP-Seq_MESCs_Mouse1.06903136
145GATA1_19941827_ChIP-Seq_MEL_Mouse1.06699630
146RUNX_20019798_ChIP-Seq_JUKART_Human1.06671210
147SALL1_21062744_ChIP-ChIP_HESCs_Human1.06234569
148PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.05416350
149BMI1_23680149_ChIP-Seq_NPCS_Mouse1.04880771
150TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.04247724
151IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.04186433
152CBP_20019798_ChIP-Seq_JUKART_Human1.04186433
153E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.04180193
154E2F4_17652178_ChIP-ChIP_JURKAT_Human1.04110430
155TBX20_22080862_ChIP-Seq_HEART_Mouse1.04007431
156TBX20_22328084_ChIP-Seq_HEART_Mouse1.04007431
157PU_27001747_Chip-Seq_BMDM_Mouse1.03766208
158PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.03012905
159PCGF2_27294783_Chip-Seq_NPCs_Mouse1.02255153
160SOX2_16153702_ChIP-ChIP_HESCs_Human1.02078114
161TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.02054078
162GATA4_21415370_ChIP-Seq_HL-1_Mouse1.02030072
163SMAD3_21741376_ChIP-Seq_EPCs_Human1.01827330
164ELF1_17652178_ChIP-ChIP_JURKAT_Human1.01553626
165GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.01036098
166SPI1_23127762_ChIP-Seq_K562_Human1.01034574
167SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.00429304
168ETV2_25802403_ChIP-Seq_MESCs_Mouse0.99600938
169THAP11_20581084_ChIP-Seq_MESCs_Mouse0.99355234
170FOXA1_27270436_Chip-Seq_PROSTATE_Human0.99025489
171FOXA1_25329375_ChIP-Seq_VCAP_Human0.99025489
172TFEB_21752829_ChIP-Seq_HELA_Human0.98924222
173CRX_20693478_ChIP-Seq_RETINA_Mouse0.98890660
174REST_21632747_ChIP-Seq_MESCs_Mouse0.98626642
175VDR_24763502_ChIP-Seq_THP-1_Human0.98414101
176FLI1_21867929_ChIP-Seq_TH2_Mouse0.98111879
177SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.97823825
178STAT3_18555785_Chip-Seq_ESCs_Mouse0.97352336
179PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.97202145
180SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.95689991
181LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.95514337
182ZFX_18555785_ChIP-Seq_MESCs_Mouse0.91100820
183PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse0.90175026
184RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.90090536
185FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.89867340
186HOXB4_20404135_ChIP-ChIP_EML_Mouse0.89383427
187KDM2B_26808549_Chip-Seq_DND41_Human0.89217856
188GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.88856414
189NCOR1_26117541_ChIP-Seq_K562_Human0.88761396
190GATA3_27048872_Chip-Seq_THYMUS_Human0.87311946
191AR_21909140_ChIP-Seq_LNCAP_Human0.86934150
192ERG_20887958_ChIP-Seq_HPC-7_Mouse0.86864636
193KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.86091937
194KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.85490208
195CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.85363129
196MAF_26560356_Chip-Seq_TH2_Human0.84202815
197FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.83526765
198LXR_22292898_ChIP-Seq_THP-1_Human0.82019488

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system3.24655124
2MP0005360_urolithiasis3.07166098
3MP0006292_abnormal_olfactory_placode2.99019027
4MP0003880_abnormal_central_pattern2.71766665
5MP0001529_abnormal_vocalization2.67838927
6MP0001984_abnormal_olfaction2.67420276
7MP0003646_muscle_fatigue2.65894555
8MP0005365_abnormal_bile_salt2.62442782
9MP0003806_abnormal_nucleotide_metabolis2.53913689
10MP0008789_abnormal_olfactory_epithelium2.45317146
11MP0001835_abnormal_antigen_presentation2.43586106
12MP0005085_abnormal_gallbladder_physiolo2.43573154
13MP0004130_abnormal_muscle_cell2.32728700
14MP0002102_abnormal_ear_morphology2.26052763
15MP0004084_abnormal_cardiac_muscle2.25220403
16MP0006072_abnormal_retinal_apoptosis2.18020644
17MP0002234_abnormal_pharynx_morphology2.17354635
18MP0005499_abnormal_olfactory_system2.12000452
19MP0005394_taste/olfaction_phenotype2.12000452
20MP0002822_catalepsy2.06390716
21MP0003122_maternal_imprinting2.06143059
22MP0010329_abnormal_lipoprotein_level2.03700074
23MP0004147_increased_porphyrin_level2.00806733
24MP0002638_abnormal_pupillary_reflex1.96076957
25MP0005670_abnormal_white_adipose1.95180573
26MP0009840_abnormal_foam_cell1.94766576
27MP0002837_dystrophic_cardiac_calcinosis1.94212930
28MP0005551_abnormal_eye_electrophysiolog1.93785802
29MP0003436_decreased_susceptibility_to1.89211726
30MP0003705_abnormal_hypodermis_morpholog1.88406670
31MP0008058_abnormal_DNA_repair1.84500162
32MP0003186_abnormal_redox_activity1.81858946
33MP0003191_abnormal_cellular_cholesterol1.80772649
34MP0008995_early_reproductive_senescence1.78627615
35MP0005084_abnormal_gallbladder_morpholo1.78287912
36MP0003252_abnormal_bile_duct1.77478938
37MP0003011_delayed_dark_adaptation1.75321322
38MP0008872_abnormal_physiological_respon1.68960902
39MP0001486_abnormal_startle_reflex1.68872873
40MP0004742_abnormal_vestibular_system1.68394397
41MP0005058_abnormal_lysosome_morphology1.66155928
42MP0004036_abnormal_muscle_relaxation1.65746816
43MP0006276_abnormal_autonomic_nervous1.65581266
44MP0003787_abnormal_imprinting1.65525077
45MP0005253_abnormal_eye_physiology1.65320437
46MP0002735_abnormal_chemical_nociception1.65000789
47MP0002272_abnormal_nervous_system1.64973188
48MP0005319_abnormal_enzyme/_coenzyme1.64568582
49MP0004142_abnormal_muscle_tone1.62304032
50MP0002653_abnormal_ependyma_morphology1.61527562
51MP0008875_abnormal_xenobiotic_pharmacok1.60389239
52MP0003121_genomic_imprinting1.59616040
53MP0009785_altered_susceptibility_to1.59307537
54MP0003300_gastrointestinal_ulcer1.59286794
55MP0009046_muscle_twitch1.57608348
56MP0009745_abnormal_behavioral_response1.56011811
57MP0001485_abnormal_pinna_reflex1.55714633
58MP0000609_abnormal_liver_physiology1.55133345
59MP0001853_heart_inflammation1.54505506
60MP0005332_abnormal_amino_acid1.53811566
61MP0002736_abnormal_nociception_after1.51894785
62MP0009764_decreased_sensitivity_to1.50660605
63MP0002166_altered_tumor_susceptibility1.50265907
64MP0005330_cardiomyopathy1.49587584
65MP0003656_abnormal_erythrocyte_physiolo1.49389640
66MP0005666_abnormal_adipose_tissue1.49311786
67MP0005584_abnormal_enzyme/coenzyme_acti1.49167988
68MP0008775_abnormal_heart_ventricle1.48589637
69MP0008877_abnormal_DNA_methylation1.47740541
70MP0000749_muscle_degeneration1.47121746
71MP0003136_yellow_coat_color1.44632346
72MP0002396_abnormal_hematopoietic_system1.43472379
73MP0010352_gastrointestinal_tract_polyps1.43396101
74MP0001968_abnormal_touch/_nociception1.42952956
75MP0005464_abnormal_platelet_physiology1.42505404
76MP0002938_white_spotting1.42323513
77MP0000343_altered_response_to1.41576979
78MP0004510_myositis1.40840297
79MP0006036_abnormal_mitochondrial_physio1.40338734
80MP0003221_abnormal_cardiomyocyte_apopto1.39156612
81MP0004145_abnormal_muscle_electrophysio1.38116076
82MP0005646_abnormal_pituitary_gland1.35886573
83MP0001293_anophthalmia1.34470460
84MP0000685_abnormal_immune_system1.34034023
85MP0004087_abnormal_muscle_fiber1.32703745
86MP0002734_abnormal_mechanical_nocicepti1.32685584
87MP0002419_abnormal_innate_immunity1.31358092
88MP0004885_abnormal_endolymph1.30260067
89MP0005025_abnormal_response_to1.29548091
90MP0000778_abnormal_nervous_system1.28846835
91MP0000372_irregular_coat_pigmentation1.28427625
92MP0006082_CNS_inflammation1.27668778
93MP0003566_abnormal_cell_adhesion1.27165507
94MP0002118_abnormal_lipid_homeostasis1.27150497
95MP0002064_seizures1.25749510
96MP0002006_tumorigenesis1.25189104
97MP0003635_abnormal_synaptic_transmissio1.24382142
98MP0004270_analgesia1.24323832
99MP0005385_cardiovascular_system_phenoty1.24122954
100MP0001544_abnormal_cardiovascular_syste1.24122954
101MP0010630_abnormal_cardiac_muscle1.23159128
102MP0006054_spinal_hemorrhage1.22886217
103MP0008469_abnormal_protein_level1.22779929
104MP0003075_altered_response_to1.22746522
105MP0002572_abnormal_emotion/affect_behav1.21407985
106MP0002557_abnormal_social/conspecific_i1.21324046
107MP0004859_abnormal_synaptic_plasticity1.21133887
108MP0001790_abnormal_immune_system1.20438921
109MP0005387_immune_system_phenotype1.20438921
110MP0009643_abnormal_urine_homeostasis1.20137617
111MP0005645_abnormal_hypothalamus_physiol1.18870907
112MP0002269_muscular_atrophy1.18596432
113MP0000631_abnormal_neuroendocrine_gland1.18425950
114MP0002972_abnormal_cardiac_muscle1.18420383
115MP0005379_endocrine/exocrine_gland_phen1.18129913
116MP0002148_abnormal_hypersensitivity_rea1.17822583
117MP0005000_abnormal_immune_tolerance1.16686083
118MP0002971_abnormal_brown_adipose1.15345812
119MP0003724_increased_susceptibility_to1.14893811
120MP0003172_abnormal_lysosome_physiology1.14847338
121MP0003303_peritoneal_inflammation1.14788978
122MP0001970_abnormal_pain_threshold1.13334012
123MP0001905_abnormal_dopamine_level1.13238947
124MP0005671_abnormal_response_to1.12251687
125MP0004133_heterotaxia1.11217062
126MP0001800_abnormal_humoral_immune1.11196845
127MP0001666_abnormal_nutrient_absorption1.11064325
128MP0005083_abnormal_biliary_tract1.10613936
129MP0004215_abnormal_myocardial_fiber1.10501228
130MP0000598_abnormal_liver_morphology1.10030993
131MP0002733_abnormal_thermal_nociception1.09991905
132MP0005397_hematopoietic_system_phenotyp1.09267955
133MP0001545_abnormal_hematopoietic_system1.09267955
134MP0002452_abnormal_antigen_presenting1.08956509
135MP0001845_abnormal_inflammatory_respons1.04968356
136MP0002233_abnormal_nose_morphology1.02771093
137MP0008438_abnormal_cutaneous_collagen1.02196417
138MP0006035_abnormal_mitochondrial_morpho1.01770577
139MP0009763_increased_sensitivity_to1.01055866
140MP0000751_myopathy1.01037419
141MP0004185_abnormal_adipocyte_glucose1.00547124
142MP0002063_abnormal_learning/memory/cond1.00137212
143MP0003195_calcinosis0.99650439
144MP0002723_abnormal_immune_serum0.99608523
145MP0003718_maternal_effect0.99174384
146MP0002277_abnormal_respiratory_mucosa0.98777133
147MP0002160_abnormal_reproductive_system0.98696294
148MP0001764_abnormal_homeostasis0.98647723
149MP0002067_abnormal_sensory_capabilities0.98215067
150MP0003890_abnormal_embryonic-extraembry0.96673354
151MP0010155_abnormal_intestine_physiology0.96232602
152MP0001963_abnormal_hearing_physiology0.96077405
153MP0003828_pulmonary_edema0.95359811
154MP0000026_abnormal_inner_ear0.95110126
155MP0001533_abnormal_skeleton_physiology0.94230279
156MP0004924_abnormal_behavior0.93628902
157MP0005386_behavior/neurological_phenoty0.93628902
158MP0005166_decreased_susceptibility_to0.92868518
159MP0003137_abnormal_impulse_conducting0.92654859
160MP0001819_abnormal_immune_cell0.92202965
161MP0002090_abnormal_vision0.91969893
162MP0004947_skin_inflammation0.91008913
163MP0005620_abnormal_muscle_contractility0.90744074
164MP0002420_abnormal_adaptive_immunity0.90557543
165MP0005410_abnormal_fertilization0.90210421
166MP0002138_abnormal_hepatobiliary_system0.89330686
167MP0004808_abnormal_hematopoietic_stem0.88330588
168MP0003786_premature_aging0.88105464
169MP0000383_abnormal_hair_follicle0.87034623
170MP0002398_abnormal_bone_marrow0.86329673
171MP0000858_altered_metastatic_potential0.85958174
172MP0000049_abnormal_middle_ear0.85750562
173MP0010307_abnormal_tumor_latency0.85392230
174MP0005334_abnormal_fat_pad0.85305853
175MP0005195_abnormal_posterior_eye0.85065724
176MP0002106_abnormal_muscle_physiology0.84920381
177MP0000750_abnormal_muscle_regeneration0.84528631
178MP0002752_abnormal_somatic_nervous0.83701679
179MP0009115_abnormal_fat_cell0.83615733
180MP0005423_abnormal_somatic_nervous0.83516638
181MP0003698_abnormal_male_reproductive0.83510926
182MP0000955_abnormal_spinal_cord0.81620386
183MP0001501_abnormal_sleep_pattern0.81445378
184MP0000647_abnormal_sebaceous_gland0.80969240
185MP0005389_reproductive_system_phenotype0.80719359
186MP0002928_abnormal_bile_duct0.80294907
187MP0001324_abnormal_eye_pigmentation0.80284250
188MP0004043_abnormal_pH_regulation0.80257265
189MP0005075_abnormal_melanosome_morpholog0.79964473
190MP0005391_vision/eye_phenotype0.78665622
191MP0008961_abnormal_basal_metabolism0.77417870
192MP0003633_abnormal_nervous_system0.77127621

Predicted human phenotypes

RankGene SetZ-score
1Myoglobinuria (HP:0002913)4.07401570
2Acute necrotizing encephalopathy (HP:0006965)4.02602641
3Hypoglycemic coma (HP:0001325)3.98821122
4Exercise-induced muscle cramps (HP:0003710)3.77688508
5Progressive macrocephaly (HP:0004481)3.70230652
6Medial flaring of the eyebrow (HP:0010747)3.62238460
7* Mitochondrial inheritance (HP:0001427)3.59325944
8Abnormal mitochondria in muscle tissue (HP:0008316)3.56866806
9Acute encephalopathy (HP:0006846)3.55623156
10Hyperammonemia (HP:0001987)3.44166952
11Rhabdomyolysis (HP:0003201)3.43761135
12Abnormality of fatty-acid metabolism (HP:0004359)3.40623003
13Cerebral edema (HP:0002181)3.30490825
14Hepatocellular necrosis (HP:0001404)3.28491721
15Gait imbalance (HP:0002141)3.21826663
16True hermaphroditism (HP:0010459)3.18050665
17Molar tooth sign on MRI (HP:0002419)3.17464647
18Abnormality of midbrain morphology (HP:0002418)3.17464647
19Pancreatic cysts (HP:0001737)3.16663021
20Congenital primary aphakia (HP:0007707)3.16426032
21* Increased CSF lactate (HP:0002490)3.12574624
22Nausea (HP:0002018)3.05090324
23Exercise-induced myalgia (HP:0003738)3.02996804
24Pancreatic fibrosis (HP:0100732)3.02446419
25Hyperglycinuria (HP:0003108)2.99557112
26Nephronophthisis (HP:0000090)2.99282686
27Ketosis (HP:0001946)2.98810624
28Methylmalonic acidemia (HP:0002912)2.98708739
293-Methylglutaconic aciduria (HP:0003535)2.92972570
30Ketoacidosis (HP:0001993)2.90749842
31Recurrent gram-negative bacterial infections (HP:0005420)2.89270888
32Nephrogenic diabetes insipidus (HP:0009806)2.86759845
33Xanthomatosis (HP:0000991)2.76925906
34Abnormality of alanine metabolism (HP:0010916)2.76268943
35Hyperalaninemia (HP:0003348)2.76268943
36Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.76268943
37Dicarboxylic aciduria (HP:0003215)2.72201436
38Abnormality of dicarboxylic acid metabolism (HP:0010995)2.72201436
39Generalized aminoaciduria (HP:0002909)2.72174883
40Deep venous thrombosis (HP:0002625)2.71715906
41Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.70388120
42Leukodystrophy (HP:0002415)2.68786917
43Abnormal respiratory epithelium morphology (HP:0012253)2.66362585
44Abnormal respiratory motile cilium morphology (HP:0005938)2.66362585
45Abnormal ciliary motility (HP:0012262)2.66099040
46Genital tract atresia (HP:0001827)2.64614741
47Abnormality of serine family amino acid metabolism (HP:0010894)2.64377071
48Abnormality of glycine metabolism (HP:0010895)2.64377071
49* Increased hepatocellular lipid droplets (HP:0006565)2.62456788
50Systemic lupus erythematosus (HP:0002725)2.61891151
51Complement deficiency (HP:0004431)2.61081575
52* Lipid accumulation in hepatocytes (HP:0006561)2.60146296
53Autoimmune thrombocytopenia (HP:0001973)2.60002421
54Asymmetric septal hypertrophy (HP:0001670)2.56818931
55Eczematoid dermatitis (HP:0000976)2.55121196
56Vaginal atresia (HP:0000148)2.54708217
57Abnormality of aromatic amino acid family metabolism (HP:0004338)2.50489577
58Hypothermia (HP:0002045)2.47084244
59Abnormality of glutamine family amino acid metabolism (HP:0010902)2.46828344
60Conjunctival hamartoma (HP:0100780)2.45757239
61Absent/shortened dynein arms (HP:0200106)2.44548943
62Dynein arm defect of respiratory motile cilia (HP:0012255)2.44548943
63Hypobetalipoproteinemia (HP:0003563)2.42835045
64* Lactic acidosis (HP:0003128)2.41193938
65Palpitations (HP:0001962)2.38496979
66Abnormality of monocarboxylic acid metabolism (HP:0010996)2.38238345
67Methylmalonic aciduria (HP:0012120)2.36285552
68Abnormal respiratory motile cilium physiology (HP:0012261)2.35718597
69Hyperlipoproteinemia (HP:0010980)2.35649790
70Abnormality of the renal medulla (HP:0100957)2.35611129
71Polycythemia (HP:0001901)2.33331422
72Abnormality of the common coagulation pathway (HP:0010990)2.31905577
73Myocardial infarction (HP:0001658)2.30941661
74Intrahepatic cholestasis (HP:0001406)2.30346820
75Esophageal neoplasm (HP:0100751)2.29881229
76Neoplasm of head and neck (HP:0012288)2.29881229
77Abnormal activity of mitochondrial respiratory chain (HP:0011922)2.28080976
78Decreased activity of mitochondrial respiratory chain (HP:0008972)2.28080976
79Ventricular tachycardia (HP:0004756)2.28050649
80Chronic otitis media (HP:0000389)2.27411474
81Optic disc pallor (HP:0000543)2.26028289
82Increased cerebral lipofuscin (HP:0011813)2.25312020
83Recurrent bacterial skin infections (HP:0005406)2.24954648
84Lipoatrophy (HP:0100578)2.24738741
85Hypoalphalipoproteinemia (HP:0003233)2.24729535
86Hypolipoproteinemia (HP:0010981)2.23816750
87Sudden death (HP:0001699)2.23574463
88Lethargy (HP:0001254)2.22131897
89* Increased serum lactate (HP:0002151)2.21113742
90Rhinitis (HP:0012384)2.20175937
91Abnormality of proline metabolism (HP:0010907)2.19393126
92Hydroxyprolinuria (HP:0003080)2.19393126
93Frequent falls (HP:0002359)2.17843822
94Subaortic stenosis (HP:0001682)2.17808878
95Abnormality of the left ventricular outflow tract (HP:0011103)2.17808878
96Recurrent abscess formation (HP:0002722)2.16200929
97Respiratory failure (HP:0002878)2.16035429
98Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.15608219
99* Renal Fanconi syndrome (HP:0001994)2.12453278
100Hepatocellular carcinoma (HP:0001402)2.11950287
101Hypertriglyceridemia (HP:0002155)2.10213988
102Hematochezia (HP:0002573)2.09812569
103Hyperglycinemia (HP:0002154)2.09762374
104Increased connective tissue (HP:0009025)2.09725193
105Tetraparesis (HP:0002273)2.09172964
106* Increased intramyocellular lipid droplets (HP:0012240)2.09047256
107Skin nodule (HP:0200036)2.08211578
108Oral leukoplakia (HP:0002745)2.07889432
109Multiple enchondromatosis (HP:0005701)2.03097179
110Epidermoid cyst (HP:0200040)2.02841645
111Recurrent viral infections (HP:0004429)2.01620381
112Focal motor seizures (HP:0011153)2.00907885
113Increased neuronal autofluorescent lipopigment (HP:0002074)2.00838943
114Esophageal varix (HP:0002040)2.00537112
115Right ventricular cardiomyopathy (HP:0011663)1.98783827
116Neonatal death (HP:0003811)1.98716500
117Metabolic acidosis (HP:0001942)1.98478779
118Hypercholesterolemia (HP:0003124)1.97506515
119Increased mean platelet volume (HP:0011877)1.97098094
120Abnormality of the renal cortex (HP:0011035)1.97025644
121Abolished electroretinogram (ERG) (HP:0000550)1.96840224
122Polydipsia (HP:0001959)1.96351575
123Abnormal drinking behavior (HP:0030082)1.96351575
124Postaxial foot polydactyly (HP:0001830)1.95380002
125Abnormality of complement system (HP:0005339)1.93054650
126Postaxial hand polydactyly (HP:0001162)1.92907079
127Abnormal rod and cone electroretinograms (HP:0008323)1.92194791
128Gingival bleeding (HP:0000225)1.92005933
129Hyporeflexia of lower limbs (HP:0002600)1.91728390
130Calf muscle hypertrophy (HP:0008981)1.91306763
131Chronic hepatic failure (HP:0100626)1.91275775
132Neoplasm of the adrenal gland (HP:0100631)1.90777432
133* Exercise intolerance (HP:0003546)1.90324533
134Dilated cardiomyopathy (HP:0001644)1.90299034
135Type II lissencephaly (HP:0007260)1.90012801
136Cerebellar dysplasia (HP:0007033)1.89528967
137Mucosal telangiectasiae (HP:0100579)1.89247092
138* Glycosuria (HP:0003076)1.88970620
139* Abnormality of urine glucose concentration (HP:0011016)1.88970620
140Abnormal platelet volume (HP:0011876)1.88707324
141Increased serum ferritin (HP:0003281)1.88639433
142Abnormality of purine metabolism (HP:0004352)1.88170514
143Increased serum pyruvate (HP:0003542)1.86174826
144Abnormality of sulfur amino acid metabolism (HP:0004339)1.86014412
145Specific learning disability (HP:0001328)1.85268620
146Poor coordination (HP:0002370)1.84877843
147Mitral stenosis (HP:0001718)1.83893987
148Proximal tubulopathy (HP:0000114)1.83703514
149Broad foot (HP:0001769)1.83421315
150Absent rod-and cone-mediated responses on ERG (HP:0007688)1.82352311
151Cholelithiasis (HP:0001081)1.82143233
152Mucopolysacchariduria (HP:0008155)1.82136966
153Urinary glycosaminoglycan excretion (HP:0003541)1.82136966
154Polyphagia (HP:0002591)1.81626708
155Lymphangioma (HP:0100764)1.81297960
156Drooling (HP:0002307)1.81230474
157Anencephaly (HP:0002323)1.80803158
158Bile duct proliferation (HP:0001408)1.80771526
159Abnormal biliary tract physiology (HP:0012439)1.80771526
160Renal cortical cysts (HP:0000803)1.80707369
161Tubulointerstitial nephritis (HP:0001970)1.80339866
162Hypoglycemic seizures (HP:0002173)1.80263809
163Urticaria (HP:0001025)1.80079999
164Short tibia (HP:0005736)1.78543702
165Sclerocornea (HP:0000647)1.78176515
166Bilateral sensorineural hearing impairment (HP:0008619)1.77943953
167Attenuation of retinal blood vessels (HP:0007843)1.77929882
168Hyperventilation (HP:0002883)1.77878666
169Abnormality of iron homeostasis (HP:0011031)1.77812049
170* Increased muscle lipid content (HP:0009058)1.76439619
171Abnormality of vitamin B metabolism (HP:0004340)1.76242920
172Abnormality of serum amino acid levels (HP:0003112)1.76106128
173CNS hypomyelination (HP:0003429)1.75424162
174Hyperbilirubinemia (HP:0002904)1.75252646
175Abnormality of macrophages (HP:0004311)1.74788672
176Decreased testicular size (HP:0008734)1.74782079
177Abnormal number of erythroid precursors (HP:0012131)1.73378078
178Abnormal cartilage morphology (HP:0002763)1.72881442
179Spastic diplegia (HP:0001264)1.72826812
180Hepatic necrosis (HP:0002605)1.72217776
181Hypomagnesemia (HP:0002917)1.71929133
182Bone cyst (HP:0012062)1.71284873
183Cystic liver disease (HP:0006706)1.71070019
184Reticulocytosis (HP:0001923)1.70797919
185Aplasia/Hypoplasia of the tibia (HP:0005772)1.70111523
186Occipital encephalocele (HP:0002085)1.69550914
187CNS demyelination (HP:0007305)1.69332256
188Aplasia/Hypoplasia of the tongue (HP:0010295)1.68424573
189Hyperinsulinemic hypoglycemia (HP:0000825)1.68285572
190Poor suck (HP:0002033)1.67466593

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TRIB34.31126907
2PKN24.08964152
3MAP3K43.39107674
4MAP4K23.25450816
5BCKDK3.01102172
6ERN13.00935185
7ZAK2.96607488
8TTN2.63791066
9NEK12.58075655
10BRSK22.47440637
11TLK12.46468157
12TYK22.38190026
13MAP2K72.32726673
14FLT32.30081860
15NEK92.24700658
16EIF2AK32.10529314
17MAP4K12.06607657
18SIK12.06434036
19CASK2.04063364
20VRK12.02178122
21WNK32.01643948
22JAK31.97760852
23WEE11.96846664
24BMPR1B1.89659785
25MAP2K31.85352273
26TBK11.84778668
27TRIM281.83632773
28OBSCN1.79916761
29PBK1.74414640
30FGFR41.68646109
31PDK41.65912591
32PDK31.65912591
33VRK21.62480585
34TGFBR21.60679706
35ERBB31.59369647
36TNIK1.58235478
37MAPK131.57077996
38SRPK11.53849050
39MAP2K41.49615352
40JAK11.45601244
41TGFBR11.45575280
42MKNK11.41291203
43MAP3K101.41045851
44ZAP701.38677568
45LRRK21.37394461
46KIT1.33724399
47STK161.32697792
48RPS6KA41.29244073
49RIPK11.26576491
50BCR1.25498340
51NUAK11.25359589
52MST41.24823240
53TAF11.24284726
54MAP3K141.22203680
55NME21.21203303
56MARK11.16743238
57MKNK21.15817110
58GRK11.15346093
59FGFR31.14086838
60PTK61.13500629
61CSNK1G21.12497643
62ADRBK21.12429419
63CSNK1G31.12093343
64BUB11.11257295
65EEF2K1.09421207
66PLK21.07858368
67CSNK1G11.07162462
68JAK21.06626699
69MAP3K51.05555509
70DYRK21.04231026
71IKBKE1.01045462
72CAMKK21.01005840
73CAMK1D1.00633778
74PLK41.00258433
75CSNK1A1L0.96790767
76MYLK0.96556490
77MAPK110.96551205
78IRAK40.94232432
79BTK0.92899572
80KDR0.91649564
81STK100.90977006
82PIK3CG0.90312583
83STK240.89390202
84EIF2AK10.88978325
85EPHA40.88816299
86PLK30.87408400
87CDK40.87342331
88CDK190.87284761
89WNK40.86688477
90FGFR20.86380685
91STK40.85995593
92STK38L0.85834984
93PNCK0.85434638
94PIM20.84701200
95CSF1R0.84341565
96MAP3K30.83909460
97NME10.82210040
98BRSK10.81894842
99SCYL20.81812003
100TXK0.81758954
101PRKCE0.80707533
102PASK0.80610604
103EIF2AK20.80030486
104LMTK20.79766485
105DMPK0.79272156
106TEC0.78167042
107PKN10.78140155
108PDGFRA0.77310330
109CDK60.77163813
110TAOK30.76346896
111OXSR10.75410944
112MAP3K130.75237764
113STK390.75029335
114PAK30.74937481
115SIK30.74731800
116PRKCG0.74511791
117EPHA30.74250815
118STK30.72978724
119ILK0.72734373
120SYK0.72233935
121NTRK20.71265046
122RPS6KA50.70318878
123MARK30.68845394
124BMPR20.68802400
125MAP3K110.67486746
126IKBKB0.66836540
127FRK0.66659975
128MST1R0.66286269
129CDK30.66252021
130MAPK150.65132951
131BMX0.63189101
132PAK40.62500630
133UHMK10.62284425
134BLK0.60740540
135DYRK1A0.60121530
136PIM10.59861367
137TNK20.58501119
138PDK20.57500433
139DYRK30.57099340
140MAP3K70.56041800
141ITK0.55913294
142PHKG20.54624700
143PHKG10.54624700
144CHUK0.54414136
145LATS10.53873311
146PDK10.53761471
147ABL20.53493067
148PRKAA20.52829888
149CCNB10.52461034
150MAP3K80.51648823
151MINK10.51213664
152PRKCQ0.51073779
153NTRK30.50458749
154CSK0.50361458
155CDK80.50064515
156DAPK20.48090168
157TAOK20.47305357
158RPS6KA60.47230388
159SGK30.46209682
160PRKAA10.45318761
161PIK3CA0.45259800
162HCK0.43363600
163MAPKAPK50.43054360
164RPS6KC10.42801704
165RPS6KL10.42801704
166PINK10.42300903
167PRKD30.42038739
168RET0.41770715
169INSRR0.41484956
170CAMK2A0.40890142
171ACVR1B0.40624365
172CDC70.39823729
173LYN0.39614270
174EGFR0.38023384
175PLK10.37857106
176ALK0.37109426
177MAP2K60.36283302
178CSNK2A10.35894460
179CSNK1A10.34815535
180LCK0.34522794
181PRKACA0.32829128
182ATR0.31234671
183STK110.29063920
184PRKG10.28042678
185GRK70.27800459

Predicted pathways (KEGG)

RankGene SetZ-score
1Citrate cycle (TCA cycle)_Homo sapiens_hsa000203.90304315
2Oxidative phosphorylation_Homo sapiens_hsa001903.80625354
32-Oxocarboxylic acid metabolism_Homo sapiens_hsa012103.46913165
4Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.45219076
5Parkinsons disease_Homo sapiens_hsa050123.29967249
6Fatty acid degradation_Homo sapiens_hsa000713.22993383
7Protein export_Homo sapiens_hsa030602.95831158
8Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.89764129
9Propanoate metabolism_Homo sapiens_hsa006402.75103749
10Ribosome_Homo sapiens_hsa030102.59468967
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.57674650
12Nitrogen metabolism_Homo sapiens_hsa009102.56736931
13Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.40648709
14Carbon metabolism_Homo sapiens_hsa012002.36585352
15Fatty acid metabolism_Homo sapiens_hsa012122.32929039
16Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.26458004
17Primary bile acid biosynthesis_Homo sapiens_hsa001202.26323872
18Huntingtons disease_Homo sapiens_hsa050162.23657530
19Proteasome_Homo sapiens_hsa030502.16722813
20PPAR signaling pathway_Homo sapiens_hsa033202.14728273
21Arginine biosynthesis_Homo sapiens_hsa002202.14305708
22RNA polymerase_Homo sapiens_hsa030202.08487820
23Alzheimers disease_Homo sapiens_hsa050102.08159564
24Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.91602699
25Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.84038536
26Pentose and glucuronate interconversions_Homo sapiens_hsa000401.81688693
27Tryptophan metabolism_Homo sapiens_hsa003801.75791234
28Staphylococcus aureus infection_Homo sapiens_hsa051501.74188482
29Biosynthesis of amino acids_Homo sapiens_hsa012301.69907613
30Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.67215932
31Regulation of autophagy_Homo sapiens_hsa041401.60125794
32Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.56982864
33Fanconi anemia pathway_Homo sapiens_hsa034601.56171718
34Peroxisome_Homo sapiens_hsa041461.55632201
35RNA degradation_Homo sapiens_hsa030181.50643750
36Starch and sucrose metabolism_Homo sapiens_hsa005001.48751724
37Basal transcription factors_Homo sapiens_hsa030221.48590607
38Pyruvate metabolism_Homo sapiens_hsa006201.46095608
39Fatty acid elongation_Homo sapiens_hsa000621.45574625
40Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.43533205
41Complement and coagulation cascades_Homo sapiens_hsa046101.42556391
42Cardiac muscle contraction_Homo sapiens_hsa042601.40172747
43Homologous recombination_Homo sapiens_hsa034401.40041792
44Nicotine addiction_Homo sapiens_hsa050331.38980533
45Maturity onset diabetes of the young_Homo sapiens_hsa049501.34870908
46beta-Alanine metabolism_Homo sapiens_hsa004101.31697598
47Pentose phosphate pathway_Homo sapiens_hsa000301.30765372
48Mismatch repair_Homo sapiens_hsa034301.30361746
49Phototransduction_Homo sapiens_hsa047441.30116475
50Leishmaniasis_Homo sapiens_hsa051401.30023173
51Legionellosis_Homo sapiens_hsa051341.29553566
52Selenocompound metabolism_Homo sapiens_hsa004501.24673232
53Adipocytokine signaling pathway_Homo sapiens_hsa049201.23127865
54Asthma_Homo sapiens_hsa053101.20303966
55Nucleotide excision repair_Homo sapiens_hsa034201.19838754
56Insulin resistance_Homo sapiens_hsa049311.17858062
57Steroid biosynthesis_Homo sapiens_hsa001001.15959403
58Toll-like receptor signaling pathway_Homo sapiens_hsa046201.13604472
59Caffeine metabolism_Homo sapiens_hsa002321.11342136
60Butanoate metabolism_Homo sapiens_hsa006501.05798943
61Spliceosome_Homo sapiens_hsa030401.02575725
62Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.02373280
63Base excision repair_Homo sapiens_hsa034101.01891441
64Fatty acid biosynthesis_Homo sapiens_hsa000611.00641985
65Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.00564921
66Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.99456863
67Purine metabolism_Homo sapiens_hsa002300.97383988
68Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.96612538
69Non-homologous end-joining_Homo sapiens_hsa034500.96412422
70Galactose metabolism_Homo sapiens_hsa000520.96363910
71Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.94730794
72Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.94568763
73Cysteine and methionine metabolism_Homo sapiens_hsa002700.93866828
74One carbon pool by folate_Homo sapiens_hsa006700.93453050
75Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.93353481
76Drug metabolism - other enzymes_Homo sapiens_hsa009830.91470949
77Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.90476515
78Viral myocarditis_Homo sapiens_hsa054160.89476549
79Linoleic acid metabolism_Homo sapiens_hsa005910.88321070
80Glutathione metabolism_Homo sapiens_hsa004800.86550921
81GABAergic synapse_Homo sapiens_hsa047270.86371246
82Phenylalanine metabolism_Homo sapiens_hsa003600.86164920
83Pyrimidine metabolism_Homo sapiens_hsa002400.84915563
84Lysine degradation_Homo sapiens_hsa003100.84446017
85Metabolic pathways_Homo sapiens_hsa011000.81619130
86Measles_Homo sapiens_hsa051620.80446092
87ABC transporters_Homo sapiens_hsa020100.80223584
88alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.79940970
89Type I diabetes mellitus_Homo sapiens_hsa049400.79793560
90Taste transduction_Homo sapiens_hsa047420.78257766
91NF-kappa B signaling pathway_Homo sapiens_hsa040640.76507491
92Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.76463057
93Osteoclast differentiation_Homo sapiens_hsa043800.75813213
94Collecting duct acid secretion_Homo sapiens_hsa049660.75456083
95RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.73913185
96Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.72726745
97Toxoplasmosis_Homo sapiens_hsa051450.72163022
98Fat digestion and absorption_Homo sapiens_hsa049750.71683608
99Antigen processing and presentation_Homo sapiens_hsa046120.71524390
100Systemic lupus erythematosus_Homo sapiens_hsa053220.70192115
101Bile secretion_Homo sapiens_hsa049760.68966629
102Central carbon metabolism in cancer_Homo sapiens_hsa052300.67627554
103Morphine addiction_Homo sapiens_hsa050320.67480803
104Glycerolipid metabolism_Homo sapiens_hsa005610.67215373
105SNARE interactions in vesicular transport_Homo sapiens_hsa041300.66695901
106Circadian entrainment_Homo sapiens_hsa047130.66637880
107Retinol metabolism_Homo sapiens_hsa008300.65784681
108Tuberculosis_Homo sapiens_hsa051520.65705423
109Influenza A_Homo sapiens_hsa051640.65472118
110Pertussis_Homo sapiens_hsa051330.64783721
111Olfactory transduction_Homo sapiens_hsa047400.64508957
112Insulin secretion_Homo sapiens_hsa049110.62804078
113Folate biosynthesis_Homo sapiens_hsa007900.62564915
114Ether lipid metabolism_Homo sapiens_hsa005650.62393766
115Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.61667575
116DNA replication_Homo sapiens_hsa030300.60039050
117Herpes simplex infection_Homo sapiens_hsa051680.59547386
118AMPK signaling pathway_Homo sapiens_hsa041520.58948498
119Lysosome_Homo sapiens_hsa041420.58945143
120Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.56868490
121Glutamatergic synapse_Homo sapiens_hsa047240.56215370
122HIF-1 signaling pathway_Homo sapiens_hsa040660.55883739
123Insulin signaling pathway_Homo sapiens_hsa049100.54929883
124Fructose and mannose metabolism_Homo sapiens_hsa000510.54843280
125Dopaminergic synapse_Homo sapiens_hsa047280.53328797
126Serotonergic synapse_Homo sapiens_hsa047260.52299443
127Apoptosis_Homo sapiens_hsa042100.51531769
128Glucagon signaling pathway_Homo sapiens_hsa049220.51068371
129Chemical carcinogenesis_Homo sapiens_hsa052040.50789563
130Alcoholism_Homo sapiens_hsa050340.49061433
131TNF signaling pathway_Homo sapiens_hsa046680.48033805
132Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.47942622
133Histidine metabolism_Homo sapiens_hsa003400.47170116
134Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.46961969
135Sulfur metabolism_Homo sapiens_hsa009200.46466650
136Chronic myeloid leukemia_Homo sapiens_hsa052200.45975218
137Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.45938238
138Dilated cardiomyopathy_Homo sapiens_hsa054140.45652704
139Tyrosine metabolism_Homo sapiens_hsa003500.45487093
140RNA transport_Homo sapiens_hsa030130.43766819
141Small cell lung cancer_Homo sapiens_hsa052220.43473513
142Arachidonic acid metabolism_Homo sapiens_hsa005900.43015967
143Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.42225352
144Steroid hormone biosynthesis_Homo sapiens_hsa001400.41924820
145B cell receptor signaling pathway_Homo sapiens_hsa046620.41692244
146Amphetamine addiction_Homo sapiens_hsa050310.41506408
147Acute myeloid leukemia_Homo sapiens_hsa052210.40908451
148Oocyte meiosis_Homo sapiens_hsa041140.40099674
149Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.39910096
150Arginine and proline metabolism_Homo sapiens_hsa003300.39630907
151Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.39261867
152Intestinal immune network for IgA production_Homo sapiens_hsa046720.39143704
153Hepatitis B_Homo sapiens_hsa051610.38331817
154Glycosaminoglycan degradation_Homo sapiens_hsa005310.37554369
155Sulfur relay system_Homo sapiens_hsa041220.37483303
156Malaria_Homo sapiens_hsa051440.37261293
157Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.36803478
158mTOR signaling pathway_Homo sapiens_hsa041500.34673061
159Salivary secretion_Homo sapiens_hsa049700.34253453
160Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.33900958
161Autoimmune thyroid disease_Homo sapiens_hsa053200.33849122
162Platelet activation_Homo sapiens_hsa046110.32132697
163Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.31389848
164Graft-versus-host disease_Homo sapiens_hsa053320.30501883
165Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.30447094
166Primary immunodeficiency_Homo sapiens_hsa053400.30030332
167Amoebiasis_Homo sapiens_hsa051460.28413381

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