ISCU

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





Description: This gene encodes a component of the iron-sulfur (Fe-S) cluster scaffold. Fe-S clusters are cofactors that play a role in the function of a diverse set of enzymes, including those that regulate metabolism, iron homeostasis, and oxidative stress response. Alternative splicing results in transcript variants encoding different protein isoforms that localize either to the cytosol or to the mitochondrion. Mutations in this gene have been found in patients with hereditary myopathy with lactic acidosis. A disease-associated mutation in an intron may activate a cryptic splice site, resulting in the production of a splice variant encoding a putatively non-functional protein. A pseudogene of this gene is present on chromosome 1. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine metabolic process (GO:0006558)5.28528211
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)5.28528211
3L-phenylalanine catabolic process (GO:0006559)5.21312047
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)5.21312047
5mitochondrial ATP synthesis coupled proton transport (GO:0042776)5.12173850
6ATP synthesis coupled proton transport (GO:0015986)5.05619909
7energy coupled proton transport, down electrochemical gradient (GO:0015985)5.05619909
8mitochondrial electron transport, NADH to ubiquinone (GO:0006120)5.00595152
9glyoxylate metabolic process (GO:0046487)4.86942248
10respiratory electron transport chain (GO:0022904)4.60804338
11cysteine metabolic process (GO:0006534)4.51793647
12electron transport chain (GO:0022900)4.48522139
13aromatic amino acid family catabolic process (GO:0009074)4.27674422
14antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G4.27133126
15fatty acid beta-oxidation (GO:0006635)4.19387031
16regulation of B cell receptor signaling pathway (GO:0050855)4.19026212
17cytidine deamination (GO:0009972)4.18237444
18cytidine metabolic process (GO:0046087)4.18237444
19cytidine catabolic process (GO:0006216)4.18237444
20lysine metabolic process (GO:0006553)4.12718975
21lysine catabolic process (GO:0006554)4.12718975
22branched-chain amino acid catabolic process (GO:0009083)4.08726826
23sulfur amino acid catabolic process (GO:0000098)4.03485022
24positive thymic T cell selection (GO:0045059)3.99470638
25negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.98875271
26negative regulation of cell killing (GO:0031342)3.98875271
27short-chain fatty acid metabolic process (GO:0046459)3.95902205
28pyrimidine ribonucleoside catabolic process (GO:0046133)3.92792642
29positive regulation of gamma-delta T cell activation (GO:0046645)3.91879655
30branched-chain amino acid metabolic process (GO:0009081)3.87728994
31positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.85053432
32fatty acid catabolic process (GO:0009062)3.84938169
33aldehyde catabolic process (GO:0046185)3.84363075
34fatty acid oxidation (GO:0019395)3.78703874
35regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.77618516
36nucleoside diphosphate catabolic process (GO:0009134)3.74465910
37acetyl-CoA metabolic process (GO:0006084)3.73430811
38bile acid biosynthetic process (GO:0006699)3.73226928
39aspartate family amino acid catabolic process (GO:0009068)3.72737291
40lipid oxidation (GO:0034440)3.71900002
41proline metabolic process (GO:0006560)3.69956144
42antigen processing and presentation of endogenous antigen (GO:0019883)3.65633912
43valine metabolic process (GO:0006573)3.63395375
44cellular ketone body metabolic process (GO:0046950)3.63172990
45fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.62697986
46amino-acid betaine metabolic process (GO:0006577)3.52751925
47ethanol oxidation (GO:0006069)3.52170764
48monocarboxylic acid catabolic process (GO:0072329)3.50773574
49positive T cell selection (GO:0043368)3.48657726
502-oxoglutarate metabolic process (GO:0006103)3.45230826
51aromatic amino acid family metabolic process (GO:0009072)3.44021553
52B cell receptor signaling pathway (GO:0050853)3.43250717
53nonribosomal peptide biosynthetic process (GO:0019184)3.40411367
54drug transmembrane transport (GO:0006855)3.40084914
55DNA deamination (GO:0045006)3.40030971
56T cell migration (GO:0072678)3.39906159
57glutathione biosynthetic process (GO:0006750)3.39702306
58indole-containing compound catabolic process (GO:0042436)3.37277758
59indolalkylamine catabolic process (GO:0046218)3.37277758
60tryptophan catabolic process (GO:0006569)3.37277758
61response to mercury ion (GO:0046689)3.33076318
62oxidative phosphorylation (GO:0006119)3.30017862
63immunoglobulin mediated immune response (GO:0016064)3.29462922
64negative T cell selection (GO:0043383)3.29350914
65organic acid catabolic process (GO:0016054)3.29287770
66carboxylic acid catabolic process (GO:0046395)3.29287770
67cellular amino acid catabolic process (GO:0009063)3.28609253
68antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.28268789
69alpha-amino acid catabolic process (GO:1901606)3.27726924
70kynurenine metabolic process (GO:0070189)3.27639790
71heme transport (GO:0015886)3.26097096
72sarcoplasmic reticulum calcium ion transport (GO:0070296)3.24288508
73carnitine metabolic process (GO:0009437)3.24210406
74thymic T cell selection (GO:0045061)3.23747012
75tryptophan metabolic process (GO:0006568)3.23162569
76serine family amino acid metabolic process (GO:0009069)3.19550871
77creatine metabolic process (GO:0006600)3.17373315
78negative thymic T cell selection (GO:0045060)3.14661767
79serine family amino acid catabolic process (GO:0009071)3.13140205
80Arp2/3 complex-mediated actin nucleation (GO:0034314)3.12825768
81alpha-linolenic acid metabolic process (GO:0036109)3.09845256
82coenzyme catabolic process (GO:0009109)3.09820557
83chaperone-mediated protein transport (GO:0072321)3.09092590
84serine family amino acid biosynthetic process (GO:0009070)3.08114265
85biotin metabolic process (GO:0006768)3.07368835
86ketone body metabolic process (GO:1902224)3.06076472
87ATP biosynthetic process (GO:0006754)3.05596475
88glutathione metabolic process (GO:0006749)3.05585965
89negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.05567634
90tyrosine metabolic process (GO:0006570)3.05528781
91urate metabolic process (GO:0046415)3.05334579
92NADH metabolic process (GO:0006734)3.02794111
93T cell selection (GO:0045058)3.02324293
94alkaloid metabolic process (GO:0009820)3.02127655
95regulation of oxidative phosphorylation (GO:0002082)3.01479132
96bile acid metabolic process (GO:0008206)3.00793886
97cellular response to interleukin-15 (GO:0071350)2.97799358
98regulation of regulatory T cell differentiation (GO:0045589)2.96773996
99triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.91976870
100glutathione derivative metabolic process (GO:1901685)2.91178537
101glutathione derivative biosynthetic process (GO:1901687)2.91178537
102establishment of protein localization to mitochondrial membrane (GO:0090151)2.90114297
103pyridine nucleotide biosynthetic process (GO:0019363)2.88944269
104nicotinamide nucleotide biosynthetic process (GO:0019359)2.88944269
105acyl-CoA metabolic process (GO:0006637)2.88094319
106thioester metabolic process (GO:0035383)2.88094319
107drug transport (GO:0015893)2.87514047
108small molecule catabolic process (GO:0044282)2.86031062
109cofactor catabolic process (GO:0051187)2.85981332
110tricarboxylic acid cycle (GO:0006099)2.85004346
111homocysteine metabolic process (GO:0050667)2.85003300
112T cell costimulation (GO:0031295)2.84626205
113antigen receptor-mediated signaling pathway (GO:0050851)2.84599047
114regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.83980509
115succinate metabolic process (GO:0006105)2.83538207
116positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.82986885
117NADP metabolic process (GO:0006739)2.81741607
118pentose metabolic process (GO:0019321)2.81668369
119lymphocyte costimulation (GO:0031294)2.81635218
120regulation of triglyceride catabolic process (GO:0010896)2.81272155
121interferon-gamma-mediated signaling pathway (GO:0060333)2.81145347
122tricarboxylic acid metabolic process (GO:0072350)2.81112938
123ribonucleoside diphosphate metabolic process (GO:0009185)2.80004852
124antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.79137784
125purine nucleoside triphosphate biosynthetic process (GO:0009145)2.79055454
126NAD biosynthetic process (GO:0009435)2.78861707
127NAD metabolic process (GO:0019674)2.78374176
128peptide biosynthetic process (GO:0043043)2.78271865
129regulation of antigen processing and presentation (GO:0002577)2.77521278
130benzene-containing compound metabolic process (GO:0042537)2.76958188
131purine ribonucleoside triphosphate biosynthetic process (GO:0009206)2.75742829
132cellular modified amino acid catabolic process (GO:0042219)2.75450215
133positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.75076838
134heme biosynthetic process (GO:0006783)2.74971722
135indolalkylamine metabolic process (GO:0006586)2.74851218
136glutamate metabolic process (GO:0006536)2.73950230
137purine nucleoside diphosphate metabolic process (GO:0009135)2.73836510
138oxygen transport (GO:0015671)2.73704243
139pyrimidine nucleoside catabolic process (GO:0046135)2.72658803
140B cell mediated immunity (GO:0019724)2.71170821
141regulation of relaxation of muscle (GO:1901077)2.70000366
142regulation of gamma-delta T cell activation (GO:0046643)2.66989074
143negative regulation of antigen receptor-mediated signaling pathway (GO:0050858)2.66711635
144NIK/NF-kappaB signaling (GO:0038061)2.66257280
145regulation of germinal center formation (GO:0002634)2.65777426
146response to interleukin-15 (GO:0070672)2.65428590
147regulation of gamma-delta T cell differentiation (GO:0045586)2.63791380
148actin-myosin filament sliding (GO:0033275)2.62751091
149muscle filament sliding (GO:0030049)2.62751091
150regulation of alpha-beta T cell proliferation (GO:0046640)2.62418286
151neutrophil activation involved in immune response (GO:0002283)2.60439113
152T cell receptor signaling pathway (GO:0050852)2.58446444
153regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.54527214
154actin nucleation (GO:0045010)2.54413899
155regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.54409288
156regulation of natural killer cell mediated immunity (GO:0002715)2.54258203
157regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.54258203
158positive regulation of B cell differentiation (GO:0045579)2.53136634
159lymphocyte chemotaxis (GO:0048247)2.52037634
160negative regulation of calcium ion transmembrane transport (GO:1903170)2.50483708
161negative regulation of calcium ion transmembrane transporter activity (GO:1901020)2.50483708
162regulation of T cell receptor signaling pathway (GO:0050856)2.50393369
163regulation of dendritic cell antigen processing and presentation (GO:0002604)2.50197549
164positive regulation of interleukin-4 production (GO:0032753)2.47760750
165regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.46686583
166negative regulation of leukocyte mediated immunity (GO:0002704)2.46569661
167positive regulation of calcium-mediated signaling (GO:0050850)2.45903714
168regulation of interleukin-4 production (GO:0032673)2.43891462
169granulocyte activation (GO:0036230)2.43155814
170positive regulation of lymphocyte migration (GO:2000403)2.43149306
171gas transport (GO:0015669)2.42631488
172tolerance induction (GO:0002507)2.42022315
173regulation of T cell mediated cytotoxicity (GO:0001914)2.42018070
174regulation of cell communication by electrical coupling (GO:0010649)2.41478939
175negative regulation of phosphoprotein phosphatase activity (GO:0032515)2.40701760
176regulation of B cell differentiation (GO:0045577)2.40542905
177regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.40021473
178negative regulation of T cell apoptotic process (GO:0070233)2.39018452
179regulation of lymphocyte chemotaxis (GO:1901623)2.38822607
180mature B cell differentiation involved in immune response (GO:0002313)2.37655208
181positive regulation of natural killer cell mediated immunity (GO:0002717)2.37589178
182mast cell activation (GO:0045576)2.37347910
183positive regulation of monocyte chemotaxis (GO:0090026)2.36586930
184detection of bacterium (GO:0016045)2.35402061
185type I interferon signaling pathway (GO:0060337)2.33068822
186cellular response to type I interferon (GO:0071357)2.33068822
187B cell homeostasis (GO:0001782)2.32305227
188defense response to protozoan (GO:0042832)2.32280905
189regulation of platelet aggregation (GO:0090330)2.31821933
190regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.31440033
191negative regulation of T cell receptor signaling pathway (GO:0050860)2.30670892
192positive regulation of antigen processing and presentation (GO:0002579)2.30187942
193regulation of lymphocyte migration (GO:2000401)2.30011910
194negative regulation of lymphocyte mediated immunity (GO:0002707)2.28973738
195response to type I interferon (GO:0034340)2.26898076
196regulation of isotype switching to IgG isotypes (GO:0048302)2.26815728
197positive regulation of T cell mediated cytotoxicity (GO:0001916)2.26026999
198positive regulation of alpha-beta T cell proliferation (GO:0046641)2.24897990
199lymphocyte migration (GO:0072676)2.24847590

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human6.63453055
2ESR1_17901129_ChIP-ChIP_LIVER_Mouse6.55874063
3PPARG_19300518_ChIP-PET_3T3-L1_Mouse5.70306402
4IRF8_22096565_ChIP-ChIP_GC-B_Human4.90146390
5RXR_22158963_ChIP-Seq_LIVER_Mouse4.38091776
6PPARA_22158963_ChIP-Seq_LIVER_Mouse3.75149579
7STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.38091931
8EGR1_23403033_ChIP-Seq_LIVER_Mouse3.34897169
9FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.31471121
10CEBPA_23403033_ChIP-Seq_LIVER_Mouse3.22001329
11LXR_22158963_ChIP-Seq_LIVER_Mouse3.20298413
12IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.18779654
13NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.14101349
14FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.89215784
15SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.86726907
16KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.77727058
17ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.76271222
18CEBPB_23403033_ChIP-Seq_LIVER_Mouse2.76155817
19TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.71268363
20EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse2.70524368
21MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.61872457
22GABP_17652178_ChIP-ChIP_JURKAT_Human2.43988208
23* JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.42935960
24IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.42712040
25RUNX_20019798_ChIP-Seq_JUKART_Human2.29702152
26* MYB_26560356_Chip-Seq_TH2_Human2.24196211
27SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.19010993
28STAT4_19710469_ChIP-ChIP_TH1__Mouse2.18885742
29* IRF8_21731497_ChIP-ChIP_J774_Mouse2.18175205
30E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.07407529
31* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.06428717
32* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.06035260
33ETS1_20019798_ChIP-Seq_JURKAT_Human2.05025952
34LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.95489188
35ZNF263_19887448_ChIP-Seq_K562_Human1.92322119
36* IRF8_27001747_Chip-Seq_BMDM_Mouse1.92001632
37MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.91752783
38SRF_21415370_ChIP-Seq_HL-1_Mouse1.91730574
39PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.86373041
40MAF_26560356_Chip-Seq_TH1_Human1.85914014
41CREB1_15753290_ChIP-ChIP_HEK293T_Human1.80339837
42* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.78062866
43NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.77505029
44ELF1_17652178_ChIP-ChIP_JURKAT_Human1.77135159
45HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.75478873
46EST1_17652178_ChIP-ChIP_JURKAT_Human1.74792215
47* CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.74416357
48* UTX_26944678_Chip-Seq_JUKART_Human1.73228933
49HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.71042732
50MAF_26560356_Chip-Seq_TH2_Human1.66263649
51PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.64459408
52RUNX1_22412390_ChIP-Seq_EML_Mouse1.64171522
53CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.58719753
54MYC_18358816_ChIP-ChIP_MESCs_Mouse1.56916856
55GATA3_27048872_Chip-Seq_THYMUS_Human1.56622955
56GATA1_19941827_ChIP-Seq_MEL_Mouse1.55476228
57RARG_19884340_ChIP-ChIP_MEFs_Mouse1.53543779
58SPI1_23127762_ChIP-Seq_K562_Human1.52602215
59SPI1_23547873_ChIP-Seq_NB4_Human1.52378365
60* MYB_26560356_Chip-Seq_TH1_Human1.51979277
61SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.51737897
62E2F1_18555785_ChIP-Seq_MESCs_Mouse1.51471081
63CTCF_18555785_ChIP-Seq_MESCs_Mouse1.47950631
64SCL_19346495_ChIP-Seq_HPC-7_Human1.46488391
65THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.46203609
66STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.42641678
67MYC_18555785_ChIP-Seq_MESCs_Mouse1.40177059
68MYB_21317192_ChIP-Seq_ERMYB_Mouse1.40058480
69TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.36616247
70IKZF1_21737484_ChIP-ChIP_HCT116_Human1.35893152
71BRD4_27068464_Chip-Seq_AML-cells_Mouse1.35166629
72VDR_21846776_ChIP-Seq_THP-1_Human1.35067063
73NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.32986354
74LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.32746283
75TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.31761864
76ELF1_20517297_ChIP-Seq_JURKAT_Human1.30386365
77HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.29760872
78GATA2_22383799_ChIP-Seq_G1ME_Mouse1.28969682
79* RAD21_21589869_ChIP-Seq_MESCs_Mouse1.27817138
80VDR_24763502_ChIP-Seq_THP-1_Human1.27505269
81SREBP1_19666523_ChIP-Seq_LIVER_Mouse1.27277961
82GATA1_19941826_ChIP-Seq_K562_Human1.25506444
83MYC_22102868_ChIP-Seq_BL_Human1.25401892
84KDM2B_26808549_Chip-Seq_SUP-B15_Human1.24492038
85NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.23262278
86YY1_22570637_ChIP-Seq_MALME-3M_Human1.22880700
87* SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.22074854
88* TET1_21451524_ChIP-Seq_MESCs_Mouse1.20791653
89NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.20776723
90TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.20415242
91YY1_21170310_ChIP-Seq_MESCs_Mouse1.20253921
92GATA3_26560356_Chip-Seq_TH2_Human1.19619794
93SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.19492267
94PU.1_20513432_ChIP-Seq_Bcells_Mouse1.19287160
95STAT3_1855785_ChIP-Seq_MESCs_Mouse1.18381398
96DCP1A_22483619_ChIP-Seq_HELA_Human1.15685504
97KDM2B_26808549_Chip-Seq_DND41_Human1.15561268
98* BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.14773524
99PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.14363048
100SRY_22984422_ChIP-ChIP_TESTIS_Rat1.13221749
101* TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.12703738
102STAT1_20625510_ChIP-Seq_HELA_Human1.12652473
103* CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.10351418
104CTCF_27219007_Chip-Seq_ERYTHROID_Human1.09307358
105Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.08467763
106THAP11_20581084_ChIP-Seq_MESCs_Mouse1.07472180
107SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.06476823
108HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.05386000
109RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.04705583
110CTCF_26484167_Chip-Seq_Bcells_Mouse1.04428523
111SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.01671956
112STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.01519984
113LXR_22292898_ChIP-Seq_THP-1_Human1.01245291
114* SA1_27219007_Chip-Seq_Bcells_Human1.00688076
115CTCF_20526341_ChIP-Seq_ESCs_Human1.00292863
116GATA1_22025678_ChIP-Seq_K562_Human0.99500034
117PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.98910708
118EGR1_19032775_ChIP-ChIP_M12_Human0.98328337
119TCF7_22412390_ChIP-Seq_EML_Mouse0.98256654
120SPI1_20517297_ChIP-Seq_HL60_Human0.97846221
121SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.96391142
122* CIITA_25753668_ChIP-Seq_RAJI_Human0.96336735
123ZFP42_18358816_ChIP-ChIP_MESCs_Mouse0.96202100
124BCL6_27268052_Chip-Seq_Bcells_Human0.95940742
125CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse0.95093526
126SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.94757584
127* ELK3_25401928_ChIP-Seq_HUVEC_Human0.94309682
128RXRA_24833708_ChIP-Seq_LIVER_Mouse0.93721662
129KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.92930016
130* EOMES_21245162_ChIP-Seq_HESCs_Human0.92771808
131VDR_23849224_ChIP-Seq_CD4+_Human0.90630433
132XRN2_22483619_ChIP-Seq_HELA_Human0.90434429
133TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.90187676
134CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.89567540
135BCOR_27268052_Chip-Seq_Bcells_Human0.89551694
136GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88670357
137NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.88616224
138* OCT4_18692474_ChIP-Seq_MEFs_Mouse0.88586619
139HTT_18923047_ChIP-ChIP_STHdh_Human0.88452508
140GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88422327
141CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.87931848
142SOX2_18692474_ChIP-Seq_MEFs_Mouse0.87657967
143P300_27268052_Chip-Seq_Bcells_Human0.87140916
144NANOG_20526341_ChIP-Seq_ESCs_Human0.86884617
145PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.86736639
146DNAJC2_21179169_ChIP-ChIP_NT2_Human0.86568159
147CSB_26484114_Chip-Seq_FIBROBLAST_Human0.86566510
148GATA2_21666600_ChIP-Seq_HMVEC_Human0.86496388
149GATA2_19941826_ChIP-Seq_K562_Human0.86441990
150EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.86352902
151TCF7L2_21901280_ChIP-Seq_H4IIE_Rat0.83651084
152FOXP1_21924763_ChIP-Seq_HESCs_Human0.82634722
153* FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.82201328
154* MYC_19030024_ChIP-ChIP_MESCs_Mouse0.82198612
155ELK1_22589737_ChIP-Seq_MCF10A_Human0.80886550
156* SMC3_22415368_ChIP-Seq_MEFs_Mouse0.80413529
157ETV2_25802403_ChIP-Seq_MESCs_Mouse0.79974425
158CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.79440799
159GATA1_22383799_ChIP-Seq_G1ME_Mouse0.78286928
160RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.77689276
161GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.77042126
162POU5F1_18700969_ChIP-ChIP_MESCs_Mouse0.76777440
163SOX2_21211035_ChIP-Seq_LN229_Human0.76164821
164BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.75554935
165TBX5_21415370_ChIP-Seq_HL-1_Mouse0.75548975
166SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.75528048
167OCT4_20526341_ChIP-Seq_ESCs_Human0.75464429
168P68_20966046_ChIP-Seq_HELA_Human0.75445405
169* CTCF_21964334_ChIP-Seq_BJAB-B_Human0.75099869
170PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.74350970

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system5.22115494
2MP0005360_urolithiasis4.72088227
3MP0003806_abnormal_nucleotide_metabolis4.60793326
4MP0005365_abnormal_bile_salt3.98764041
5MP0005085_abnormal_gallbladder_physiolo3.88752209
6MP0005671_abnormal_response_to3.71130736
7MP0008875_abnormal_xenobiotic_pharmacok3.50295537
8MP0001835_abnormal_antigen_presentation3.17722449
9MP0005332_abnormal_amino_acid3.03919485
10MP0003195_calcinosis2.96378241
11MP0006036_abnormal_mitochondrial_physio2.70842780
12MP0000685_abnormal_immune_system2.70137357
13MP0005083_abnormal_biliary_tract2.65230909
14MP0005464_abnormal_platelet_physiology2.64934278
15MP0002837_dystrophic_cardiac_calcinosis2.63664667
16MP0009840_abnormal_foam_cell2.63556270
17MP0005387_immune_system_phenotype2.62750551
18MP0001790_abnormal_immune_system2.62750551
19MP0003186_abnormal_redox_activity2.58629832
20MP0005000_abnormal_immune_tolerance2.53633508
21MP0001800_abnormal_humoral_immune2.49382582
22MP0003763_abnormal_thymus_physiology2.43679020
23MP0002148_abnormal_hypersensitivity_rea2.36457754
24MP0009785_altered_susceptibility_to2.28936294
25MP0001986_abnormal_taste_sensitivity2.28753900
26MP0003436_decreased_susceptibility_to2.28032303
27MP0009333_abnormal_splenocyte_physiolog2.19020478
28MP0002138_abnormal_hepatobiliary_system2.18317258
29MP0002723_abnormal_immune_serum2.17341374
30MP0003303_peritoneal_inflammation2.16351617
31MP0005025_abnormal_response_to2.07812068
32MP0009643_abnormal_urine_homeostasis2.07180508
33MP0002420_abnormal_adaptive_immunity2.06406231
34MP0001819_abnormal_immune_cell2.02866641
35MP0004019_abnormal_vitamin_homeostasis2.00789472
36MP0005451_abnormal_body_composition2.00760543
37MP0010329_abnormal_lipoprotein_level2.00059059
38MP0002452_abnormal_antigen_presenting2.00049552
39MP0004145_abnormal_muscle_electrophysio1.96475500
40MP0004510_myositis1.96466042
41MP0003646_muscle_fatigue1.89056823
42MP0005584_abnormal_enzyme/coenzyme_acti1.86501508
43MP0003191_abnormal_cellular_cholesterol1.85094298
44MP0003252_abnormal_bile_duct1.84448148
45MP0002118_abnormal_lipid_homeostasis1.82134109
46MP0004043_abnormal_pH_regulation1.80614084
47MP0003656_abnormal_erythrocyte_physiolo1.79164126
48MP0006082_CNS_inflammation1.73179982
49MP0006035_abnormal_mitochondrial_morpho1.72174257
50MP0005636_abnormal_mineral_homeostasis1.72091586
51MP0001666_abnormal_nutrient_absorption1.71428535
52MP0002419_abnormal_innate_immunity1.69519106
53MP0005319_abnormal_enzyme/_coenzyme1.66437662
54MP0002398_abnormal_bone_marrow1.64722993
55MP0005670_abnormal_white_adipose1.62455401
56MP0010155_abnormal_intestine_physiology1.61034234
57MP0000716_abnormal_immune_system1.57388320
58MP0003866_abnormal_defecation1.54250247
59MP0004130_abnormal_muscle_cell1.52132195
60MP0005330_cardiomyopathy1.50607670
61MP0000609_abnormal_liver_physiology1.49995218
62MP0000465_gastrointestinal_hemorrhage1.48123190
63MP0005535_abnormal_body_temperature1.46123319
64MP0004084_abnormal_cardiac_muscle1.42295853
65MP0001756_abnormal_urination1.41180290
66MP0001845_abnormal_inflammatory_respons1.40314912
67MP0009379_abnormal_foot_pigmentation1.39532484
68MP0001764_abnormal_homeostasis1.38620077
69MP0000920_abnormal_myelination1.36157533
70MP0000689_abnormal_spleen_morphology1.36023201
71MP0003724_increased_susceptibility_to1.35549778
72MP0001765_abnormal_ion_homeostasis1.33405237
73MP0004147_increased_porphyrin_level1.31713425
74MP0005423_abnormal_somatic_nervous1.26851099
75MP0003329_amyloid_beta_deposits1.26729273
76MP0002429_abnormal_blood_cell1.26263799
77MP0003172_abnormal_lysosome_physiology1.25578300
78MP0002166_altered_tumor_susceptibility1.25310308
79MP0005666_abnormal_adipose_tissue1.24055811
80MP0004484_altered_response_of1.23707864
81MP0002722_abnormal_immune_system1.22478143
82MP0003879_abnormal_hair_cell1.21919994
83MP0001905_abnormal_dopamine_level1.18981031
84MP0001533_abnormal_skeleton_physiology1.18014851
85MP0002405_respiratory_system_inflammati1.17737209
86MP0004142_abnormal_muscle_tone1.16446736
87MP0001661_extended_life_span1.15520277
88MP0000749_muscle_degeneration1.14662007
89MP0002972_abnormal_cardiac_muscle1.14621315
90MP0000747_muscle_weakness1.14428040
91MP0000751_myopathy1.12326314
92MP0003183_abnormal_peptide_metabolism1.11999138
93MP0004215_abnormal_myocardial_fiber1.11634238
94MP0006276_abnormal_autonomic_nervous1.11186159
95MP0004947_skin_inflammation1.09782330
96MP0005058_abnormal_lysosome_morphology1.09496366
97MP0008004_abnormal_stomach_pH1.09328765
98MP0005165_increased_susceptibility_to1.07463980
99MP0005166_decreased_susceptibility_to1.05981455
100MP0000230_abnormal_systemic_arterial1.05151449
101MP0004859_abnormal_synaptic_plasticity1.04877447
102MP0000604_amyloidosis1.03770507
103MP0008569_lethality_at_weaning1.02834734
104MP0000703_abnormal_thymus_morphology0.99158039
105MP0008469_abnormal_protein_level0.98945257
106MP0005084_abnormal_gallbladder_morpholo0.98689160
107MP0005310_abnormal_salivary_gland0.97552410
108MP0002078_abnormal_glucose_homeostasis0.97261090
109MP0005266_abnormal_metabolism0.95900566
110MP0002132_abnormal_respiratory_system0.95677688
111MP0001348_abnormal_lacrimal_gland0.95538611
112MP0003045_fibrosis0.95121319
113MP0001873_stomach_inflammation0.92577883
114MP0002971_abnormal_brown_adipose0.92099456
115MP0002106_abnormal_muscle_physiology0.90765336
116MP0005385_cardiovascular_system_phenoty0.90666768
117MP0001544_abnormal_cardiovascular_syste0.90666768
118MP0002876_abnormal_thyroid_physiology0.89581707
119MP0003075_altered_response_to0.89302054
120MP0003638_abnormal_response/metabolism_0.89132174
121MP0000013_abnormal_adipose_tissue0.87789665
122MP0009764_decreased_sensitivity_to0.87083652
123MP0000343_altered_response_to0.85782056
124MP0002136_abnormal_kidney_physiology0.85280326
125MP0005334_abnormal_fat_pad0.85219140
126MP0009642_abnormal_blood_homeostasis0.84788625
127MP0000759_abnormal_skeletal_muscle0.84230180
128MP0005379_endocrine/exocrine_gland_phen0.83902884
129MP0001727_abnormal_embryo_implantation0.83851531
130MP0005376_homeostasis/metabolism_phenot0.83338043
131MP0000858_altered_metastatic_potential0.82989858
132MP0002269_muscular_atrophy0.82780282
133MP0004185_abnormal_adipocyte_glucose0.82409217
134MP0004087_abnormal_muscle_fiber0.81644492
135MP0001851_eye_inflammation0.81148939
136MP0001529_abnormal_vocalization0.80700459
137MP0004036_abnormal_muscle_relaxation0.79795032
138MP0002998_abnormal_bone_remodeling0.78831885
139MP0009697_abnormal_copulation0.78397849
140MP0003300_gastrointestinal_ulcer0.77566736
141MP0002933_joint_inflammation0.76504029
142MP0001853_heart_inflammation0.76354320
143MP0001501_abnormal_sleep_pattern0.74905460
144MP0002006_tumorigenesis0.73903967
145MP0003221_abnormal_cardiomyocyte_apopto0.73827894
146MP0003137_abnormal_impulse_conducting0.73781117
147MP0000358_abnormal_cell_content/0.73261475
148MP0002064_seizures0.72050245
149MP0008775_abnormal_heart_ventricle0.71942193
150MP0003868_abnormal_feces_composition0.71805847
151MP0009763_increased_sensitivity_to0.70292773
152MP0002332_abnormal_exercise_endurance0.69502606
153MP0003718_maternal_effect0.69309111
154MP0000598_abnormal_liver_morphology0.68614762
155MP0003690_abnormal_glial_cell0.67556333
156MP0005395_other_phenotype0.66420719
157MP0005408_hypopigmentation0.66385076
158MP0008874_decreased_physiological_sensi0.65125890
159MP0000750_abnormal_muscle_regeneration0.64127350
160MP0000639_abnormal_adrenal_gland0.63119636
161MP0008260_abnormal_autophagy0.62402933
162MP0002295_abnormal_pulmonary_circulatio0.61600353
163MP0003136_yellow_coat_color0.61507392
164MP0003953_abnormal_hormone_level0.60714641
165MP0005620_abnormal_muscle_contractility0.59727005

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)4.40995943
2Acute encephalopathy (HP:0006846)3.98791523
3Hepatic necrosis (HP:0002605)3.90246767
4Acute necrotizing encephalopathy (HP:0006965)3.71391428
5Hyperglycinuria (HP:0003108)3.64834558
6* Increased muscle lipid content (HP:0009058)3.61946397
7Cerebral edema (HP:0002181)3.60969226
8Abnormal mitochondria in muscle tissue (HP:0008316)3.57725187
9Lipid accumulation in hepatocytes (HP:0006561)3.57599263
10* Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.55310742
11* Decreased activity of mitochondrial respiratory chain (HP:0008972)3.55310742
12Hepatocellular necrosis (HP:0001404)3.51752720
13Agammaglobulinemia (HP:0004432)3.48789562
14Mitochondrial inheritance (HP:0001427)3.48753509
15Abnormality of fatty-acid metabolism (HP:0004359)3.47628981
16* Increased intramyocellular lipid droplets (HP:0012240)3.44884393
17Generalized aminoaciduria (HP:0002909)3.38049480
18Increased hepatocellular lipid droplets (HP:0006565)3.37564687
19Dicarboxylic aciduria (HP:0003215)3.34901424
20Abnormality of dicarboxylic acid metabolism (HP:0010995)3.34901424
21Renal Fanconi syndrome (HP:0001994)3.32215519
22Ketosis (HP:0001946)3.31967147
23Abnormality of glycine metabolism (HP:0010895)3.31566191
24Abnormality of serine family amino acid metabolism (HP:0010894)3.31566191
25Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)3.31052860
26Hyperammonemia (HP:0001987)3.21640936
27Nemaline bodies (HP:0003798)3.20886149
28Exercise-induced myalgia (HP:0003738)3.18901610
29Hypoglycemic coma (HP:0001325)3.18197986
30Muscle fiber inclusion bodies (HP:0100299)3.18049746
31Abnormality of urine glucose concentration (HP:0011016)3.13102481
32Glycosuria (HP:0003076)3.13102481
33Ketoacidosis (HP:0001993)3.10196079
34Bundle branch block (HP:0011710)3.09180777
35Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)3.09102498
36Lethargy (HP:0001254)3.07237408
37* Lactic acidosis (HP:0003128)3.03428296
38* Muscle abnormality related to mitochondrial dysfunction (HP:0003800)3.02567925
39Increased CSF lactate (HP:0002490)3.00566435
40Proximal tubulopathy (HP:0000114)2.99892372
41T lymphocytopenia (HP:0005403)2.98940523
42Stomatitis (HP:0010280)2.98162423
43Gastrointestinal stroma tumor (HP:0100723)2.93924713
44Intrahepatic cholestasis (HP:0001406)2.92479487
45Progressive macrocephaly (HP:0004481)2.91517643
46Large for gestational age (HP:0001520)2.91381980
47Hyperglycinemia (HP:0002154)2.91095022
48Xanthomatosis (HP:0000991)2.89790725
49Gout (HP:0001997)2.86078923
50Abnormality of T cell number (HP:0011839)2.85691963
51Sudden death (HP:0001699)2.83745981
52Meningitis (HP:0001287)2.83568747
53Delayed CNS myelination (HP:0002188)2.79319606
54Abnormality of macrophages (HP:0004311)2.78291710
55Eczematoid dermatitis (HP:0000976)2.77815987
56Purpura (HP:0000979)2.73583808
57Prolonged bleeding time (HP:0003010)2.73101742
58Long foot (HP:0001833)2.72191529
59Chronic obstructive pulmonary disease (HP:0006510)2.72182320
60Obstructive lung disease (HP:0006536)2.72182320
61Hyporeflexia of lower limbs (HP:0002600)2.70007519
62Asymmetric septal hypertrophy (HP:0001670)2.67270318
63IgG deficiency (HP:0004315)2.65671783
64Vomiting (HP:0002013)2.65370057
65Abnormality of monocarboxylic acid metabolism (HP:0010996)2.64035862
66Petechiae (HP:0000967)2.63784426
67Increased IgM level (HP:0003496)2.62226412
68Mediastinal lymphadenopathy (HP:0100721)2.60935042
69Type 1 muscle fiber predominance (HP:0003803)2.59490571
70Distal lower limb muscle weakness (HP:0009053)2.59317195
71Respiratory failure (HP:0002878)2.59117496
72Elevated erythrocyte sedimentation rate (HP:0003565)2.58937451
73Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.55795884
74Metabolic acidosis (HP:0001942)2.55315435
75Exertional dyspnea (HP:0002875)2.53502737
76Deep venous thrombosis (HP:0002625)2.53216998
773-Methylglutaconic aciduria (HP:0003535)2.52844371
78Hyperlipoproteinemia (HP:0010980)2.51573742
79Recurrent bronchitis (HP:0002837)2.51557581
80Hyperphosphaturia (HP:0003109)2.51079598
81Abnormality of glutamine family amino acid metabolism (HP:0010902)2.50934063
82Abnormality of renal resorption (HP:0011038)2.49116906
83Vasculitis (HP:0002633)2.48033308
84Chest pain (HP:0100749)2.46827724
85EMG: myopathic abnormalities (HP:0003458)2.44771633
86Epistaxis (HP:0000421)2.44477211
87Abnormality of skeletal muscle fiber size (HP:0012084)2.43594693
88* Exercise intolerance (HP:0003546)2.42363434
89Nausea (HP:0002018)2.42144188
90Gastrointestinal infarctions (HP:0005244)2.38911676
91* Increased serum lactate (HP:0002151)2.37427360
92Abnormality of purine metabolism (HP:0004352)2.36041243
93Recurrent bacterial skin infections (HP:0005406)2.34649476
94Abnormality of the heme biosynthetic pathway (HP:0010472)2.33111444
95Increased serum pyruvate (HP:0003542)2.32084055
96Abnormality of glycolysis (HP:0004366)2.32084055
97Autoimmune hemolytic anemia (HP:0001890)2.31932171
98Renal salt wasting (HP:0000127)2.31674452
99Spastic paraparesis (HP:0002313)2.30588400
100Chronic diarrhea (HP:0002028)2.30255267
101Centrally nucleated skeletal muscle fibers (HP:0003687)2.30168231
102Abnormality of aspartate family amino acid metabolism (HP:0010899)2.30028750
103Abnormal delayed hypersensitivity skin test (HP:0002963)2.29795425
104* Myoglobinuria (HP:0002913)2.29394049
105Recurrent abscess formation (HP:0002722)2.28240719
106Prolonged partial thromboplastin time (HP:0003645)2.27757357
107Recurrent sinusitis (HP:0011108)2.27610783
108Increased circulating renin level (HP:0000848)2.26976857
109Leukodystrophy (HP:0002415)2.26508597
110Alkalosis (HP:0001948)2.24095128
111Ragged-red muscle fibers (HP:0003200)2.23391376
112Cellulitis (HP:0100658)2.23359169
113Cerebral hemorrhage (HP:0001342)2.22430631
114Recurrent fungal infections (HP:0002841)2.21171527
115Abnormality of T cells (HP:0002843)2.20927899
116Pulmonary infiltrates (HP:0002113)2.20599966
117Methylmalonic aciduria (HP:0012120)2.20538053
118Hypobetalipoproteinemia (HP:0003563)2.20448934
119Hypokalemic alkalosis (HP:0001949)2.20004205
120Abnormal urine phosphate concentration (HP:0012599)2.19851509
121Abnormality of liposaccharide metabolism (HP:0010968)2.18798626
122Abnormality of glycosphingolipid metabolism (HP:0004343)2.18798626
123Abnormality of glycolipid metabolism (HP:0010969)2.18798626
124Abnormality of serum amino acid levels (HP:0003112)2.18531281
125Hypomagnesemia (HP:0002917)2.18333532
126Heart block (HP:0012722)2.18144100
127Duplicated collecting system (HP:0000081)2.17862680
128Increased variability in muscle fiber diameter (HP:0003557)2.17466947
129Hyperuricemia (HP:0002149)2.16511865
130Increased purine levels (HP:0004368)2.16511865
131Myositis (HP:0100614)2.16134807
132Lymphopenia (HP:0001888)2.15904978
133Neuroendocrine neoplasm (HP:0100634)2.15870422
134Abnormality of magnesium homeostasis (HP:0004921)2.15684648
135Neck muscle weakness (HP:0000467)2.13914423
136Inflammation of the large intestine (HP:0002037)2.13415196
137Progressive external ophthalmoplegia (HP:0000590)2.12263075
138Dysostosis multiplex (HP:0000943)2.11773083
139Pustule (HP:0200039)2.11676117
140IgM deficiency (HP:0002850)2.09482059
141Encephalitis (HP:0002383)2.08540848
142CNS demyelination (HP:0007305)2.08020150
143Pheochromocytoma (HP:0002666)2.06288591
144Gingival bleeding (HP:0000225)2.06170585
145Hyperbilirubinemia (HP:0002904)2.05984671
146Complement deficiency (HP:0004431)2.05980398
147Diplopia (HP:0000651)2.05181310
148Abnormality of binocular vision (HP:0011514)2.05181310
149Abnormal atrioventricular conduction (HP:0005150)2.05128294
150Verrucae (HP:0200043)2.03991828
151Papilloma (HP:0012740)2.03991828
152* Rhabdomyolysis (HP:0003201)2.03950910
153Spontaneous hematomas (HP:0007420)2.03105353
154Muscle fiber splitting (HP:0003555)2.00986899
155Recurrent viral infections (HP:0004429)2.00488424
156Areflexia of lower limbs (HP:0002522)1.98712290
157Chronic mucocutaneous candidiasis (HP:0002728)1.97856284
158Recurrent cutaneous fungal infections (HP:0011370)1.97856284
159Joint swelling (HP:0001386)1.97846472
160Gastrointestinal inflammation (HP:0004386)1.97675508
161Abnormality of cells of the lymphoid lineage (HP:0012140)1.96105407
162Visual hallucinations (HP:0002367)1.94848607
163Ventricular tachycardia (HP:0004756)1.94120534
164Abnormality of nucleobase metabolism (HP:0010932)1.94021590
165Hepatosplenomegaly (HP:0001433)1.93428633
166Ventricular fibrillation (HP:0001663)1.92935732
167Metabolic alkalosis (HP:0200114)1.91995902
168Hemorrhage of the eye (HP:0011885)1.91168504
169Axonal loss (HP:0003447)1.91126183
170Restrictive lung disease (HP:0002091)1.91096549
171Colitis (HP:0002583)1.91006714
172Papilledema (HP:0001085)1.90358014
173Myopathic facies (HP:0002058)1.89686827
174Ventricular arrhythmia (HP:0004308)1.89572351
175Oligomenorrhea (HP:0000876)1.89475794
176Urticaria (HP:0001025)1.89255220
177Hyperaldosteronism (HP:0000859)1.88774358
178Late onset (HP:0003584)1.88377507
179Pancreatitis (HP:0001733)1.87800268
180Acute hepatic failure (HP:0006554)1.87391546
181Recurrent gram-negative bacterial infections (HP:0005420)1.87198548
182Vacuolated lymphocytes (HP:0001922)1.87084026
183Abnormality of sulfur amino acid metabolism (HP:0004339)1.86965285
184Myokymia (HP:0002411)1.86125555
185Abnormality of the prostate (HP:0008775)1.85806604
186Progressive muscle weakness (HP:0003323)1.85802892
187Recurrent skin infections (HP:0001581)1.84390329
188Muscle hypertrophy of the lower extremities (HP:0008968)1.83587070
189Hyperactive renin-angiotensin system (HP:0000841)1.83517735
190Fat malabsorption (HP:0002630)1.83248157
191Neonatal onset (HP:0003623)1.83226116
192Abnormality of the left ventricular outflow tract (HP:0011103)1.82809636
193Subaortic stenosis (HP:0001682)1.82809636
194Systemic lupus erythematosus (HP:0002725)1.81907291

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.08157323
2NME23.70563527
3RIPK43.67448561
4MAP4K13.10061975
5TXK3.05658618
6WNK42.80991538
7STK162.64962300
8MAPK152.60612466
9PINK12.41049151
10IRAK32.40487101
11OXSR12.27381854
12STK392.20045282
13ARAF2.15493998
14MAPKAPK32.11346402
15IRAK12.10391768
16WNK32.00899574
17SCYL21.97403635
18IRAK21.95145261
19CDC42BPA1.93704483
20SYK1.92659054
21BMPR21.90549142
22TESK21.81281558
23GRK61.80480196
24LIMK11.78481715
25KDR1.77342192
26PRPF4B1.73463802
27EIF2AK11.69694597
28ITK1.69132209
29TAOK31.63079530
30ICK1.62391458
31ABL21.61262048
32EPHB11.55685273
33IKBKE1.49993052
34TESK11.49083890
35PIM21.48535520
36MYLK1.47204729
37MAPKAPK51.45466745
38EIF2AK31.40907122
39BTK1.40496383
40MAP3K111.33597982
41GRK51.33188837
42CSF1R1.29593687
43TIE11.27920853
44ZAP701.25576675
45LMTK21.23813851
46CAMKK21.23335069
47PHKG11.22516544
48PHKG21.22516544
49ERN11.20653114
50CDK191.17514274
51MAP3K121.13056602
52PDK41.11461941
53PDK31.11461941
54DAPK21.11291878
55CAMKK11.09835604
56TEC1.08924086
57JAK11.07915085
58PKN11.07682614
59IKBKB1.07327169
60MAP3K141.06248807
61MAP2K21.05800999
62CSNK1G31.04012387
63PDK21.03976661
64MAP3K51.02349302
65JAK30.99590086
66ROCK20.99349997
67LYN0.98768097
68MAP3K10.97441600
69INSRR0.96668270
70KIT0.95544754
71CAMK2G0.94931148
72LCK0.94873565
73BLK0.93514054
74VRK10.93196117
75HCK0.93017911
76UHMK10.87245132
77NME10.84838113
78RPS6KA50.82664529
79PDK10.80474246
80MUSK0.80042096
81PIK3CG0.78975880
82BUB10.77753483
83FGFR40.76657188
84SIK30.76655256
85CAMK2D0.76038868
86JAK20.75563357
87DAPK10.74442799
88OBSCN0.74224437
89SIK20.73602314
90DYRK20.71292251
91CSNK1G10.70293080
92TNK20.69782221
93NTRK10.68962527
94PIM10.68343460
95PAK60.67578621
96MAP2K30.67149906
97TAOK20.66720744
98DAPK30.63527432
99PAK30.61854678
100CAMK10.61610715
101TLK10.61358496
102DYRK1B0.60296638
103MARK30.58529026
104FGR0.56656082
105FYN0.55886567
106ROCK10.55349485
107DYRK30.55083889
108PDPK10.55082070
109MST40.54909881
110IRAK40.51935949
111FLT30.51795429
112MAPK70.51516475
113PRKD20.50998862
114DMPK0.50302492
115TBK10.50245225
116PAK10.50171639
117MAPK40.49325319
118PIK3CA0.49305354
119PRKAA20.49018049
120MAP2K10.48762730
121BMX0.48745338
122TYK20.48706600
123CAMK2B0.48595884
124CSNK1G20.47923489
125PRKCD0.47190442
126FES0.47085448
127KSR20.46316048
128DYRK1A0.46302365
129SIK10.45677731
130TTN0.45397512
131ILK0.45317334
132MAPK110.44925443
133TRPM70.44619137
134MAP3K70.44485966
135PRKD10.44444348
136BCR0.44095827
137GRK70.43998558
138AURKA0.43450628
139PBK0.43382018
140PRKACA0.42496020
141ACVR1B0.42318843
142TRIB30.41414766
143EPHA40.39525564
144MAP2K60.39303813
145CAMK2A0.38766549
146MAPK120.38612009
147RAF10.38533823
148BRAF0.37914338
149PRKACG0.36525508
150CSK0.34966081
151CSNK1A1L0.33080309
152PRKCZ0.31708533
153NEK90.30435084
154WNK10.28760569
155MAP3K130.28238731
156PRKCQ0.27511816

Predicted pathways (KEGG)

RankGene SetZ-score
1Allograft rejection_Homo sapiens_hsa053304.07189288
2Autoimmune thyroid disease_Homo sapiens_hsa053203.98722972
3Graft-versus-host disease_Homo sapiens_hsa053323.74764270
4Primary immunodeficiency_Homo sapiens_hsa053403.58624656
5Oxidative phosphorylation_Homo sapiens_hsa001903.28222190
6Type I diabetes mellitus_Homo sapiens_hsa049403.19597114
7Asthma_Homo sapiens_hsa053103.09705636
8Valine, leucine and isoleucine degradation_Homo sapiens_hsa002803.01901206
9Intestinal immune network for IgA production_Homo sapiens_hsa046722.97587152
10Parkinsons disease_Homo sapiens_hsa050122.84876057
11Propanoate metabolism_Homo sapiens_hsa006402.76580579
12Primary bile acid biosynthesis_Homo sapiens_hsa001202.55259175
13Fatty acid degradation_Homo sapiens_hsa000712.51812020
14Antigen processing and presentation_Homo sapiens_hsa046122.45647577
15Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.42367439
16Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.38143368
17Viral myocarditis_Homo sapiens_hsa054162.36330664
18Butanoate metabolism_Homo sapiens_hsa006502.33989322
19Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.30914390
202-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.24807201
21Fatty acid elongation_Homo sapiens_hsa000622.16001244
22Peroxisome_Homo sapiens_hsa041462.11701671
23Rheumatoid arthritis_Homo sapiens_hsa053232.10002247
24Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.08995620
25Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.08958994
26Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.05791469
27Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049322.02499517
28Pyruvate metabolism_Homo sapiens_hsa006201.99367447
29Tryptophan metabolism_Homo sapiens_hsa003801.99127127
30Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.98591831
31Fatty acid metabolism_Homo sapiens_hsa012121.98335355
32Alzheimers disease_Homo sapiens_hsa050101.96021723
33Hematopoietic cell lineage_Homo sapiens_hsa046401.90536163
34Leishmaniasis_Homo sapiens_hsa051401.86313118
35Folate biosynthesis_Homo sapiens_hsa007901.86068562
36Ribosome_Homo sapiens_hsa030101.85588532
37Sulfur metabolism_Homo sapiens_hsa009201.83163135
38Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.82519920
39Huntingtons disease_Homo sapiens_hsa050161.73972190
40Pentose and glucuronate interconversions_Homo sapiens_hsa000401.71340693
41Proteasome_Homo sapiens_hsa030501.64111140
42Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.63400711
43beta-Alanine metabolism_Homo sapiens_hsa004101.60854167
44Phenylalanine metabolism_Homo sapiens_hsa003601.58188652
45Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.57199853
46Carbon metabolism_Homo sapiens_hsa012001.55461536
47B cell receptor signaling pathway_Homo sapiens_hsa046621.55064722
48Arginine biosynthesis_Homo sapiens_hsa002201.54342808
49Arginine and proline metabolism_Homo sapiens_hsa003301.51101352
50Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.49087575
51PPAR signaling pathway_Homo sapiens_hsa033201.46189774
52Sulfur relay system_Homo sapiens_hsa041221.43062770
53T cell receptor signaling pathway_Homo sapiens_hsa046601.42354383
54Glutathione metabolism_Homo sapiens_hsa004801.42045191
55Tyrosine metabolism_Homo sapiens_hsa003501.41050970
56Histidine metabolism_Homo sapiens_hsa003401.40180640
57Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.33868396
58Osteoclast differentiation_Homo sapiens_hsa043801.32214605
59Protein export_Homo sapiens_hsa030601.29978655
60Chemical carcinogenesis_Homo sapiens_hsa052041.28976490
61Tuberculosis_Homo sapiens_hsa051521.28877672
62NF-kappa B signaling pathway_Homo sapiens_hsa040641.27754394
63Toll-like receptor signaling pathway_Homo sapiens_hsa046201.26173837
64Cardiac muscle contraction_Homo sapiens_hsa042601.25122956
65Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.24144408
66Cysteine and methionine metabolism_Homo sapiens_hsa002701.20313611
67Cyanoamino acid metabolism_Homo sapiens_hsa004601.19395028
68Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.18202946
69Synaptic vesicle cycle_Homo sapiens_hsa047211.17033609
70Drug metabolism - other enzymes_Homo sapiens_hsa009831.15790802
71Biosynthesis of amino acids_Homo sapiens_hsa012301.13036120
72Steroid hormone biosynthesis_Homo sapiens_hsa001401.12521749
73Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.08876586
74Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.08469539
75Nitrogen metabolism_Homo sapiens_hsa009101.07201618
76Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.05839800
77Complement and coagulation cascades_Homo sapiens_hsa046101.05482485
78Measles_Homo sapiens_hsa051621.02355370
79Chemokine signaling pathway_Homo sapiens_hsa040621.01370812
80Phagosome_Homo sapiens_hsa041451.00077152
81Toxoplasmosis_Homo sapiens_hsa051450.99528203
82Vitamin B6 metabolism_Homo sapiens_hsa007500.95428113
83RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.95375453
84Herpes simplex infection_Homo sapiens_hsa051680.94824059
85Metabolic pathways_Homo sapiens_hsa011000.93940709
86Starch and sucrose metabolism_Homo sapiens_hsa005000.92826089
87Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.92084799
88Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.90073797
89Maturity onset diabetes of the young_Homo sapiens_hsa049500.89467615
90Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.86201703
91Platelet activation_Homo sapiens_hsa046110.86009728
92Caffeine metabolism_Homo sapiens_hsa002320.85604868
93Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.85544657
94Pentose phosphate pathway_Homo sapiens_hsa000300.85017215
95Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.84953558
96Long-term potentiation_Homo sapiens_hsa047200.84372972
97Influenza A_Homo sapiens_hsa051640.84350954
98Retinol metabolism_Homo sapiens_hsa008300.81039352
99Fat digestion and absorption_Homo sapiens_hsa049750.80695629
100Glycerolipid metabolism_Homo sapiens_hsa005610.79241908
101Salmonella infection_Homo sapiens_hsa051320.75939484
102Selenocompound metabolism_Homo sapiens_hsa004500.75481336
103Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.73249535
104Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.73053953
105RNA polymerase_Homo sapiens_hsa030200.72314827
106Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.71000803
107Malaria_Homo sapiens_hsa051440.69542850
108Pyrimidine metabolism_Homo sapiens_hsa002400.69464031
109Bile secretion_Homo sapiens_hsa049760.69444180
110Collecting duct acid secretion_Homo sapiens_hsa049660.67842358
111Dilated cardiomyopathy_Homo sapiens_hsa054140.66552626
112Endocytosis_Homo sapiens_hsa041440.64779119
113Linoleic acid metabolism_Homo sapiens_hsa005910.62563263
114Apoptosis_Homo sapiens_hsa042100.62220384
115alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.62012664
116Renin secretion_Homo sapiens_hsa049240.61989761
117Shigellosis_Homo sapiens_hsa051310.61920458
118Jak-STAT signaling pathway_Homo sapiens_hsa046300.61165154
119Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.60826680
120Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.60295719
121Staphylococcus aureus infection_Homo sapiens_hsa051500.59440784
122Steroid biosynthesis_Homo sapiens_hsa001000.59270428
123Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.58484727
124Vitamin digestion and absorption_Homo sapiens_hsa049770.56260616
125Oxytocin signaling pathway_Homo sapiens_hsa049210.56072373
126Amphetamine addiction_Homo sapiens_hsa050310.55159238
127ABC transporters_Homo sapiens_hsa020100.54940025
128Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.53001028
129Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.47730417
130Fructose and mannose metabolism_Homo sapiens_hsa000510.46107804
131VEGF signaling pathway_Homo sapiens_hsa043700.46070507
132Calcium signaling pathway_Homo sapiens_hsa040200.45836272
133Epstein-Barr virus infection_Homo sapiens_hsa051690.45816377
134Aldosterone synthesis and secretion_Homo sapiens_hsa049250.45720941
135Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.44873092
136Fatty acid biosynthesis_Homo sapiens_hsa000610.44732861
137Vascular smooth muscle contraction_Homo sapiens_hsa042700.44411857
138Legionellosis_Homo sapiens_hsa051340.42970034
139African trypanosomiasis_Homo sapiens_hsa051430.42689898
140Circadian rhythm_Homo sapiens_hsa047100.42435473
141Pertussis_Homo sapiens_hsa051330.41945156
142Morphine addiction_Homo sapiens_hsa050320.40483231
143Arachidonic acid metabolism_Homo sapiens_hsa005900.40380951
144TNF signaling pathway_Homo sapiens_hsa046680.40343005
145Leukocyte transendothelial migration_Homo sapiens_hsa046700.38345224
146Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.37491465
147cGMP-PKG signaling pathway_Homo sapiens_hsa040220.37429983
148GABAergic synapse_Homo sapiens_hsa047270.36878863
149Gastric acid secretion_Homo sapiens_hsa049710.36341795
150Other glycan degradation_Homo sapiens_hsa005110.32917212
151Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.31752865
152Prion diseases_Homo sapiens_hsa050200.31698093
153Salivary secretion_Homo sapiens_hsa049700.30241307
154NOD-like receptor signaling pathway_Homo sapiens_hsa046210.30157680
155Insulin secretion_Homo sapiens_hsa049110.29040441
156Ether lipid metabolism_Homo sapiens_hsa005650.28186816
157HTLV-I infection_Homo sapiens_hsa051660.27832412
158Adipocytokine signaling pathway_Homo sapiens_hsa049200.26020993
159Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.25890781
160Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.25373195
161Lysosome_Homo sapiens_hsa041420.23032996
162Glycerophospholipid metabolism_Homo sapiens_hsa005640.20037831
163Purine metabolism_Homo sapiens_hsa002300.19072063
164SNARE interactions in vesicular transport_Homo sapiens_hsa041300.17289466
165Galactose metabolism_Homo sapiens_hsa000520.15178290
166Regulation of autophagy_Homo sapiens_hsa041400.14905572
167Vibrio cholerae infection_Homo sapiens_hsa051100.08596714
168Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.07417284
169Systemic lupus erythematosus_Homo sapiens_hsa053220.05058168
170One carbon pool by folate_Homo sapiens_hsa006700.03858289
171Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.02626807
172Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.02409427

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