CASP9

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 member of the cysteine-aspartic acid protease (caspase) family. Sequential activation of caspases plays a central role in the execution-phase of cell apoptosis. Caspases exist as inactive proenzymes which undergo proteolytic processing at conserved aspartic residues to produce two subunits, large and small, that dimerize to form the active enzyme. This protein can undergo autoproteolytic processing and activation by the apoptosome, a protein complex of cytochrome c and the apoptotic peptidase activating factor 1; this step is thought to be one of the earliest in the caspase activation cascade. This protein is thought to play a central role in apoptosis and to be a tumor suppressor. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1exocrine pancreas development (GO:0031017)7.70031315
2digestion (GO:0007586)7.25411530
3cholesterol catabolic process (GO:0006707)6.74432295
4sterol catabolic process (GO:0016127)6.74432295
5protein retention in ER lumen (GO:0006621)6.72532121
6maintenance of protein localization in endoplasmic reticulum (GO:0035437)6.07600843
7intestinal absorption (GO:0050892)5.97063270
8cysteine metabolic process (GO:0006534)5.76273154
9transcytosis (GO:0045056)5.73445166
10regulation of antigen processing and presentation of peptide antigen (GO:0002583)5.56145620
11piRNA metabolic process (GO:0034587)5.23386976
12cellular modified amino acid catabolic process (GO:0042219)5.22866395
13DNA methylation involved in gamete generation (GO:0043046)5.16874625
14synapsis (GO:0007129)5.07066294
15valine metabolic process (GO:0006573)4.95681420
16male meiosis I (GO:0007141)4.81274068
17homocysteine metabolic process (GO:0050667)4.73790163
18erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.72118723
19L-phenylalanine catabolic process (GO:0006559)4.72118723
20cellular extravasation (GO:0045123)4.55217379
21male meiosis (GO:0007140)4.54790956
22erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.49773354
23L-phenylalanine metabolic process (GO:0006558)4.49773354
24coenzyme catabolic process (GO:0009109)4.48787264
25branched-chain amino acid catabolic process (GO:0009083)4.34705862
26alpha-linolenic acid metabolic process (GO:0036109)4.27455646
27synaptonemal complex assembly (GO:0007130)4.19284562
28chromosome organization involved in meiosis (GO:0070192)4.14115098
29mitochondrial calcium ion transport (GO:0006851)4.13478851
30cobalamin metabolic process (GO:0009235)4.12893659
31regulation of phospholipase A2 activity (GO:0032429)4.11326640
32lysine catabolic process (GO:0006554)4.07851738
33lysine metabolic process (GO:0006553)4.07851738
34sulfur amino acid catabolic process (GO:0000098)4.05692517
35negative regulation of digestive system process (GO:0060457)4.03602277
36branched-chain amino acid metabolic process (GO:0009081)3.97495261
37meiosis I (GO:0007127)3.97355574
38glycolipid catabolic process (GO:0019377)3.96396167
39synaptonemal complex organization (GO:0070193)3.95876387
40serine family amino acid biosynthetic process (GO:0009070)3.91417890
41steroid catabolic process (GO:0006706)3.90324855
42proline biosynthetic process (GO:0006561)3.89342886
43aromatic amino acid family catabolic process (GO:0009074)3.83958312
44positive regulation of gamma-delta T cell activation (GO:0046645)3.83380572
45aspartate family amino acid catabolic process (GO:0009068)3.76529454
46axoneme assembly (GO:0035082)3.73825986
47neutrophil activation involved in immune response (GO:0002283)3.72447326
48leukotriene biosynthetic process (GO:0019370)3.71076949
49neutrophil mediated immunity (GO:0002446)3.69912301
50membrane lipid catabolic process (GO:0046466)3.59976089
51serine family amino acid metabolic process (GO:0009069)3.59110215
52cilium movement (GO:0003341)3.57151725
53triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.53992167
54histone H4-K12 acetylation (GO:0043983)3.50542953
55cholesterol transport (GO:0030301)3.48350887
56sterol transport (GO:0015918)3.48350887
57glycine metabolic process (GO:0006544)3.39151042
58cellular amino acid catabolic process (GO:0009063)3.36362782
59regulation of regulatory T cell differentiation (GO:0045589)3.32909846
60ceramide catabolic process (GO:0046514)3.32819178
61fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.32379866
62alpha-amino acid catabolic process (GO:1901606)3.29160086
63serine family amino acid catabolic process (GO:0009071)3.28789658
64glyoxylate metabolic process (GO:0046487)3.26712062
65kynurenine metabolic process (GO:0070189)3.26685969
66bile acid biosynthetic process (GO:0006699)3.26661614
67meiotic nuclear division (GO:0007126)3.26646387
68cilium or flagellum-dependent cell motility (GO:0001539)3.25086686
69leukocyte degranulation (GO:0043299)3.25014854
70cofactor catabolic process (GO:0051187)3.23243798
71epithelial cilium movement (GO:0003351)3.21433355
72activation of signaling protein activity involved in unfolded protein response (GO:0006987)3.20850805
73negative regulation of interleukin-1 beta production (GO:0032691)3.20389472
74immunoglobulin mediated immune response (GO:0016064)3.17608510
75tryptophan metabolic process (GO:0006568)3.16722219
76cellular response to follicle-stimulating hormone stimulus (GO:0071372)3.15139881
77mast cell activation involved in immune response (GO:0002279)3.14040380
78mast cell degranulation (GO:0043303)3.14040380
79respiratory burst (GO:0045730)3.13085275
80killing of cells in other organism involved in symbiotic interaction (GO:0051883)3.12592881
81disruption of cells of other organism involved in symbiotic interaction (GO:0051818)3.12592881
82regulation of antigen processing and presentation (GO:0002577)3.12394496
83tryptophan catabolic process (GO:0006569)3.09662968
84indole-containing compound catabolic process (GO:0042436)3.09662968
85indolalkylamine catabolic process (GO:0046218)3.09662968
86multicellular organism reproduction (GO:0032504)3.06631287
87cellular response to interleukin-15 (GO:0071350)3.06606733
88positive regulation of nuclease activity (GO:0032075)3.05544186
89urea metabolic process (GO:0019627)3.05380830
90urea cycle (GO:0000050)3.05380830
91peptidyl-proline hydroxylation (GO:0019511)3.02725208
92regulation of gamma-delta T cell activation (GO:0046643)3.02701504
93one-carbon metabolic process (GO:0006730)3.00475382
94negative regulation of response to biotic stimulus (GO:0002832)3.00145852
95diterpenoid biosynthetic process (GO:0016102)2.99675577
96positive regulation of B cell differentiation (GO:0045579)2.98261652
97Golgi transport vesicle coating (GO:0048200)2.95170019
98COPI coating of Golgi vesicle (GO:0048205)2.95170019
99protein carboxylation (GO:0018214)2.93151717
100peptidyl-glutamic acid carboxylation (GO:0017187)2.93151717
101lysosome localization (GO:0032418)2.92759088
102negative regulation of defense response to virus (GO:0050687)2.91364214
1034-hydroxyproline metabolic process (GO:0019471)2.91356517
104proline metabolic process (GO:0006560)2.91080094
105myeloid leukocyte mediated immunity (GO:0002444)2.89666143
106mast cell activation (GO:0045576)2.89629440
107fusion of sperm to egg plasma membrane (GO:0007342)2.89154662
108endoplasmic reticulum unfolded protein response (GO:0030968)2.87535657
109organic acid catabolic process (GO:0016054)2.83923911
110carboxylic acid catabolic process (GO:0046395)2.83923911
111detection of molecule of bacterial origin (GO:0032490)2.83914032
112glutamine family amino acid biosynthetic process (GO:0009084)2.83896622
113regulation of cholesterol homeostasis (GO:2000188)2.83359475
114high-density lipoprotein particle remodeling (GO:0034375)2.83047371
115positive regulation by symbiont of host defense response (GO:0052509)2.82140736
116modulation by symbiont of host defense response (GO:0052031)2.82140736
117modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.82140736
118modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.82140736
119positive regulation by organism of defense response of other organism involved in symbiotic interact2.82140736
120modulation by symbiont of host immune response (GO:0052553)2.82140736
121antigen processing and presentation of endogenous antigen (GO:0019883)2.81655701
122bile acid metabolic process (GO:0008206)2.81395579
123neutrophil activation (GO:0042119)2.80770278
124response to muramyl dipeptide (GO:0032495)2.80201941
125antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.77872283
126ethanol oxidation (GO:0006069)2.77516580
127regulation of nuclease activity (GO:0032069)2.77275865
128L-alpha-amino acid transmembrane transport (GO:1902475)2.77031042
129complement activation, alternative pathway (GO:0006957)2.76705021
130negative regulation of innate immune response (GO:0045824)2.76226866
131regulation of gamma-delta T cell differentiation (GO:0045586)2.76100445
132reverse cholesterol transport (GO:0043691)2.75944850
133cellular response to unfolded protein (GO:0034620)2.75889279
134aggressive behavior (GO:0002118)2.73682766
135response to endoplasmic reticulum stress (GO:0034976)2.72722634
136leukotriene metabolic process (GO:0006691)2.72577023
137production of molecular mediator involved in inflammatory response (GO:0002532)2.72429579
138nitrogen cycle metabolic process (GO:0071941)2.71896212
139ER-nucleus signaling pathway (GO:0006984)2.71275433
140glutamate metabolic process (GO:0006536)2.71077790
141L-serine metabolic process (GO:0006563)2.71054067
142peptide catabolic process (GO:0043171)2.71043907
143myeloid cell activation involved in immune response (GO:0002275)2.70944703
144regulation of memory T cell differentiation (GO:0043380)2.69720733
145response to interleukin-15 (GO:0070672)2.69172214
146regulation of triglyceride biosynthetic process (GO:0010866)2.68770815
147regulation of interferon-beta production (GO:0032648)2.68168420
148estrogen biosynthetic process (GO:0006703)2.67345919
149behavioral response to nicotine (GO:0035095)2.66282634
150negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)2.66124601
151aromatic amino acid family metabolic process (GO:0009072)2.65575541
152negative regulation of interleukin-1 production (GO:0032692)2.65293537
153regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)2.62228809
154response to interferon-beta (GO:0035456)2.61673441
155epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.60083670
156cellular response to topologically incorrect protein (GO:0035967)2.58961937
157alanine transport (GO:0032328)2.58933730
158metallo-sulfur cluster assembly (GO:0031163)2.58698240
159iron-sulfur cluster assembly (GO:0016226)2.58698240
160establishment of protein localization to mitochondrial membrane (GO:0090151)2.58452355
161granulocyte activation (GO:0036230)2.57823734
162regulation of protein activation cascade (GO:2000257)2.57386550
163regulation of cholesterol storage (GO:0010885)2.57261073
164mitochondrion distribution (GO:0048311)2.56592573
165positive regulation of prostaglandin secretion (GO:0032308)2.56115813
166regulation of microtubule-based movement (GO:0060632)2.55871395
167viral protein processing (GO:0019082)2.55446894
168N-terminal protein amino acid acetylation (GO:0006474)2.55424009
169plasma lipoprotein particle clearance (GO:0034381)2.54991892
170COPII vesicle coating (GO:0048208)2.53246395
171resolution of meiotic recombination intermediates (GO:0000712)2.50964030
172regulation of B cell receptor signaling pathway (GO:0050855)2.50297348
173positive regulation of mast cell activation (GO:0033005)2.50199571
174regulation of B cell differentiation (GO:0045577)2.49714536
175cellular response to exogenous dsRNA (GO:0071360)2.49672927
176sperm-egg recognition (GO:0035036)2.49188655
177cellular response to interferon-beta (GO:0035458)2.48838332
178centriole replication (GO:0007099)2.48493732
179B cell mediated immunity (GO:0019724)2.46771967
180sperm motility (GO:0030317)2.46576560
181response to peptidoglycan (GO:0032494)2.46160358
182regulation of female receptivity (GO:0045924)2.45681538
183regulation of germinal center formation (GO:0002634)2.45660675
184microglial cell activation (GO:0001774)2.45616334
185meiotic chromosome segregation (GO:0045132)2.43628894
186cellular response to gonadotropin stimulus (GO:0071371)2.41665474
187negative regulation of complement activation (GO:0045916)2.41321305
188regulation of interleukin-12 biosynthetic process (GO:0045075)2.40030256
189axonemal dynein complex assembly (GO:0070286)2.39306513
190snRNA transcription (GO:0009301)2.39181334
191positive regulation of triglyceride biosynthetic process (GO:0010867)2.39158192
192protein-cofactor linkage (GO:0018065)2.38741958
193negative regulation of humoral immune response (GO:0002921)2.38521378
194positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.37209330
195regulation of cholesterol efflux (GO:0010874)2.37117697
196centriole assembly (GO:0098534)2.35930848
197intestinal cholesterol absorption (GO:0030299)12.2389797

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse6.21889909
2RXR_22158963_ChIP-Seq_LIVER_Mouse4.42254263
3IRF8_22096565_ChIP-ChIP_GC-B_Human4.41539761
4PPARA_22158963_ChIP-Seq_LIVER_Mouse4.20451818
5LXR_22158963_ChIP-Seq_LIVER_Mouse3.45600885
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.23548174
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.13069765
8ELF1_17652178_ChIP-ChIP_JURKAT_Human3.07070358
9TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.87625268
10BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.71935284
11NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.51228584
12IRF8_21731497_ChIP-ChIP_J774_Mouse2.46709713
13FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.21684982
14MYC_22102868_ChIP-Seq_BL_Human2.17141326
15BP1_19119308_ChIP-ChIP_Hs578T_Human2.05993455
16CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.04671764
17IRF8_27001747_Chip-Seq_BMDM_Mouse2.03798739
18EGR1_23403033_ChIP-Seq_LIVER_Mouse2.02111200
19GATA1_22025678_ChIP-Seq_K562_Human1.99792484
20NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.98856853
21SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.98425824
22MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.96917085
23ZNF274_21170338_ChIP-Seq_K562_Hela1.95863028
24E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.95459918
25EZH2_22144423_ChIP-Seq_EOC_Human1.89755399
26STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.85061701
27EST1_17652178_ChIP-ChIP_JURKAT_Human1.84801970
28LXR_22292898_ChIP-Seq_THP-1_Human1.84256995
29BRD4_27068464_Chip-Seq_AML-cells_Mouse1.81189745
30E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse1.80897898
31KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.76730134
32NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.75401141
33NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.73963910
34TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.72636951
35GABP_17652178_ChIP-ChIP_JURKAT_Human1.70994720
36FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.70606717
37RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.66013682
38TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.62746341
39POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.62746341
40CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.62476258
41SOX2_27498859_Chip-Seq_STOMACH_Mouse1.61440004
42VDR_21846776_ChIP-Seq_THP-1_Human1.60148529
43P300_27268052_Chip-Seq_Bcells_Human1.59227783
44STAT4_19710469_ChIP-ChIP_TH1__Mouse1.59121671
45* GATA6_21074721_ChIP-Seq_CACO-2_Human1.58003144
46GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.57128845
47VDR_23849224_ChIP-Seq_CD4+_Human1.55685433
48MYB_21317192_ChIP-Seq_ERMYB_Mouse1.54703148
49STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.54636704
50SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.53808721
51* GATA3_26560356_Chip-Seq_TH2_Human1.52461050
52ESR2_21235772_ChIP-Seq_MCF-7_Human1.50952289
53CLOCK_20551151_ChIP-Seq_293T_Human1.50206607
54EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.49425043
55GATA1_19941827_ChIP-Seq_MEL_Mouse1.48856319
56THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.44931531
57EGR1_19374776_ChIP-ChIP_THP-1_Human1.44594442
58* TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.44540168
59TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.44422085
60CIITA_25753668_ChIP-Seq_RAJI_Human1.43067203
61* GATA6_21074721_ChIP-Seq_CACO-2_Mouse1.41310003
62MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.41307346
63TCF7_22412390_ChIP-Seq_EML_Mouse1.40639006
64VDR_22108803_ChIP-Seq_LS180_Human1.39114383
65Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.37803864
66SCL_19346495_ChIP-Seq_HPC-7_Human1.36293486
67TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.35534579
68GATA3_27048872_Chip-Seq_THYMUS_Human1.35032662
69GATA4_25053715_ChIP-Seq_YYC3_Human1.34876111
70* KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.34584125
71VDR_24763502_ChIP-Seq_THP-1_Human1.34121631
72KDM2B_26808549_Chip-Seq_SUP-B15_Human1.33430084
73RUNX_20019798_ChIP-Seq_JUKART_Human1.32919082
74GATA6_25053715_ChIP-Seq_YYC3_Human1.32125621
75GATA1_22383799_ChIP-Seq_G1ME_Mouse1.30930293
76* PHF8_20622853_ChIP-Seq_HELA_Human1.30583948
77* RBPJ_21746931_ChIP-Seq_IB4_Human1.29797523
78ELF1_20517297_ChIP-Seq_JURKAT_Human1.29101271
79* YY1_22570637_ChIP-Seq_MALME-3M_Human1.28568707
80* CDX2_21074721_ChIP-Seq_CACO-2_Mouse1.28398409
81FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.28096412
82ERG_21242973_ChIP-ChIP_JURKAT_Human1.27632997
83GATA1_19941826_ChIP-Seq_K562_Human1.26141139
84GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.26064661
85PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.25453357
86HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.24160568
87SMRT_27268052_Chip-Seq_Bcells_Human1.24156625
88* KDM2B_26808549_Chip-Seq_DND41_Human1.23086255
89* HOXB4_20404135_ChIP-ChIP_EML_Mouse1.23004255
90CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.21937433
91MYB_26560356_Chip-Seq_TH1_Human1.21464360
92* HNFA_21074721_ChIP-Seq_CACO-2_Human1.21211530
93ELK3_25401928_ChIP-Seq_HUVEC_Human1.20053592
94HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.19777310
95MYC_19829295_ChIP-Seq_ESCs_Human1.19755048
96FOXP3_21729870_ChIP-Seq_TREG_Human1.19667722
97LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.17660652
98KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.17218924
99FOXA2_19822575_ChIP-Seq_HepG2_Human1.16914799
100FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.16692084
101VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.16407150
102P68_20966046_ChIP-Seq_HELA_Human1.15630042
103RACK7_27058665_Chip-Seq_MCF-7_Human1.15470257
104* MAF_26560356_Chip-Seq_TH1_Human1.15010644
105IKZF1_21737484_ChIP-ChIP_HCT116_Human1.13586933
106NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.11914126
107* GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.11531267
108E2F1_20622854_ChIP-Seq_HELA_Human1.10939286
109KDM2B_26808549_Chip-Seq_K562_Human1.09956385
110GATA3_21878914_ChIP-Seq_MCF-7_Human1.09573860
111ESR1_21235772_ChIP-Seq_MCF-7_Human1.09450754
112POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.08130088
113ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.07348862
114* RUNX1_22412390_ChIP-Seq_EML_Mouse1.06674804
115BCOR_27268052_Chip-Seq_Bcells_Human1.06394685
116ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.05888227
117* IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.05684475
118JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.05307958
119MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.05230133
120* KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.05076376
121TP53_22573176_ChIP-Seq_HFKS_Human1.04266526
122KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse1.03975941
123ERA_21632823_ChIP-Seq_H3396_Human1.02875833
124* SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.02567598
125TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.01690942
126* ETV1_20927104_ChIP-Seq_GIST48_Human1.01665627
127STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.99915987
128CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.99510308
129* NFYB_21822215_ChIP-Seq_K562_Human0.99493422
130PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.99040002
131RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.98289745
132* MYB_26560356_Chip-Seq_TH2_Human0.97710574
133NANOG_20526341_ChIP-Seq_ESCs_Human0.97666336
134PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.96963652
135* SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.96852235
136KDM5A_27292631_Chip-Seq_BREAST_Human0.96554455
137SRF_21415370_ChIP-Seq_HL-1_Mouse0.96120433
138* SPI1_23127762_ChIP-Seq_K562_Human0.94981773
139UTX_26944678_Chip-Seq_JUKART_Human0.94395898
140RARG_19884340_ChIP-ChIP_MEFs_Mouse0.94344517
141VDR_24787735_ChIP-Seq_THP-1_Human0.94080003
142LMO2_20887958_ChIP-Seq_HPC-7_Mouse0.92285387
143IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.92271491
144NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.91105556
145* SA1_27219007_Chip-Seq_ERYTHROID_Human0.90924443
146TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.89497700
147CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.89324257
148SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.88897356
149GATA2_19941826_ChIP-Seq_K562_Human0.88762898
150TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.88652056
151* MAF_26560356_Chip-Seq_TH2_Human0.88248981
152* CREB1_26743006_Chip-Seq_LNCaP_Human0.88241357
153ETS1_21867929_ChIP-Seq_TH2_Mouse0.88214103
154SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.88081626
155BCL6_27268052_Chip-Seq_Bcells_Human0.87091078
156SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.87041843
157ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.85901640
158PHF8_20622854_ChIP-Seq_HELA_Human0.84127157
159* NCOR1_26117541_ChIP-Seq_K562_Human0.82006989
160* HNF4A_19822575_ChIP-Seq_HepG2_Human0.81829051
161CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human0.81718878
162FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human0.81025729
163SPI1_23547873_ChIP-Seq_NB4_Human0.80886445
164SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.80879950

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005083_abnormal_biliary_tract7.63327841
2MP0005365_abnormal_bile_salt6.48443399
3MP0001666_abnormal_nutrient_absorption6.41427777
4MP0005085_abnormal_gallbladder_physiolo4.56938021
5MP0002139_abnormal_hepatobiliary_system4.23627271
6MP0003868_abnormal_feces_composition3.86621692
7MP0005220_abnormal_exocrine_pancreas3.82950141
8MP0002653_abnormal_ependyma_morphology3.75214590
9MP0005360_urolithiasis3.46328812
10MP0008877_abnormal_DNA_methylation2.99101318
11MP0005084_abnormal_gallbladder_morpholo2.88230447
12MP0003724_increased_susceptibility_to2.44440252
13MP0003705_abnormal_hypodermis_morpholog2.41185598
14MP0005410_abnormal_fertilization2.23576639
15MP0010329_abnormal_lipoprotein_level2.19160116
16MP0003786_premature_aging2.05897157
17MP0005397_hematopoietic_system_phenotyp2.03827708
18MP0001545_abnormal_hematopoietic_system2.03827708
19MP0008875_abnormal_xenobiotic_pharmacok2.02099178
20MP0003252_abnormal_bile_duct2.01362515
21MP0005058_abnormal_lysosome_morphology1.97979606
22MP0003191_abnormal_cellular_cholesterol1.92895981
23MP0009840_abnormal_foam_cell1.86051769
24MP0001929_abnormal_gametogenesis1.84789139
25MP0003718_maternal_effect1.84110874
26MP0008058_abnormal_DNA_repair1.77678272
27MP0003656_abnormal_erythrocyte_physiolo1.72609266
28MP0002118_abnormal_lipid_homeostasis1.71944223
29MP0003787_abnormal_imprinting1.69974766
30MP0005332_abnormal_amino_acid1.69652587
31MP0003806_abnormal_nucleotide_metabolis1.68192873
32MP0003959_abnormal_lean_body1.64843646
33MP0001835_abnormal_antigen_presentation1.59569408
34MP0003698_abnormal_male_reproductive1.55798772
35MP0003172_abnormal_lysosome_physiology1.54708291
36MP0006054_spinal_hemorrhage1.53820832
37MP0005448_abnormal_energy_balance1.52078749
38MP0002210_abnormal_sex_determination1.51691655
39MP0003638_abnormal_response/metabolism_1.48996358
40MP0000609_abnormal_liver_physiology1.48800736
41MP0002132_abnormal_respiratory_system1.47525305
42MP0003436_decreased_susceptibility_to1.46043223
43MP0000372_irregular_coat_pigmentation1.45283653
44MP0002398_abnormal_bone_marrow1.43028819
45MP0003303_peritoneal_inflammation1.40623298
46MP0008004_abnormal_stomach_pH1.37234550
47MP0001873_stomach_inflammation1.35550893
48MP0002693_abnormal_pancreas_physiology1.33840411
49MP0003646_muscle_fatigue1.33348176
50MP0000716_abnormal_immune_system1.30188005
51MP0001986_abnormal_taste_sensitivity1.28379845
52MP0003011_delayed_dark_adaptation1.27854543
53MP0009643_abnormal_urine_homeostasis1.25358942
54MP0002722_abnormal_immune_system1.24908219
55MP0008007_abnormal_cellular_replicative1.23583403
56MP0001145_abnormal_male_reproductive1.22397714
57MP0001664_abnormal_digestion1.21351882
58MP0000653_abnormal_sex_gland1.17185092
59MP0005319_abnormal_enzyme/_coenzyme1.15855314
60MP0002429_abnormal_blood_cell1.14624938
61MP0002138_abnormal_hepatobiliary_system1.13723910
62MP0002102_abnormal_ear_morphology1.13410220
63MP0005645_abnormal_hypothalamus_physiol1.13129892
64MP0005464_abnormal_platelet_physiology1.11682922
65MP0000598_abnormal_liver_morphology1.11485882
66* MP0003763_abnormal_thymus_physiology1.10154267
67MP0002837_dystrophic_cardiac_calcinosis1.10119703
68MP0004808_abnormal_hematopoietic_stem1.07519123
69MP0002876_abnormal_thyroid_physiology1.06473977
70MP0001853_heart_inflammation1.06171228
71MP0008961_abnormal_basal_metabolism1.04812552
72MP0001845_abnormal_inflammatory_respons1.03373011
73MP0000703_abnormal_thymus_morphology1.02595244
74MP0003136_yellow_coat_color1.02004488
75MP0009785_altered_susceptibility_to1.01311579
76MP0005551_abnormal_eye_electrophysiolog1.01082208
77MP0001348_abnormal_lacrimal_gland0.98863346
78MP0001790_abnormal_immune_system0.98308436
79MP0005387_immune_system_phenotype0.98308436
80MP0002419_abnormal_innate_immunity0.96900971
81MP0004036_abnormal_muscle_relaxation0.96419324
82MP0003300_gastrointestinal_ulcer0.96242517
83MP0003828_pulmonary_edema0.94679525
84MP0005646_abnormal_pituitary_gland0.93947996
85MP0008469_abnormal_protein_level0.93093322
86MP0005167_abnormal_blood-brain_barrier0.92735923
87MP0004142_abnormal_muscle_tone0.92571929
88MP0001851_eye_inflammation0.92541232
89MP0001533_abnormal_skeleton_physiology0.92433122
90MP0000685_abnormal_immune_system0.90896902
91MP0003186_abnormal_redox_activity0.90580493
92MP0002277_abnormal_respiratory_mucosa0.90190114
93MP0000015_abnormal_ear_pigmentation0.89685245
94MP0006035_abnormal_mitochondrial_morpho0.89590042
95MP0004264_abnormal_extraembryonic_tissu0.85679950
96MP0001119_abnormal_female_reproductive0.84827451
97MP0001968_abnormal_touch/_nociception0.84738902
98MP0009765_abnormal_xenobiotic_induced0.84506361
99MP0001663_abnormal_digestive_system0.84411798
100MP0001800_abnormal_humoral_immune0.84262106
101MP0003075_altered_response_to0.82188428
102MP0000639_abnormal_adrenal_gland0.82036092
103MP0000343_altered_response_to0.81588279
104MP0006292_abnormal_olfactory_placode0.81467499
105* MP0006036_abnormal_mitochondrial_physio0.81059986
106MP0008260_abnormal_autophagy0.80946423
107MP0005584_abnormal_enzyme/coenzyme_acti0.80900486
108MP0005310_abnormal_salivary_gland0.80720709
109MP0005174_abnormal_tail_pigmentation0.79990764
110MP0001765_abnormal_ion_homeostasis0.79534483
111MP0004858_abnormal_nervous_system0.78966376
112MP0004147_increased_porphyrin_level0.78908070
113MP0002161_abnormal_fertility/fecundity0.78594863
114MP0002909_abnormal_adrenal_gland0.78507811
115MP0002078_abnormal_glucose_homeostasis0.78000700
116MP0008438_abnormal_cutaneous_collagen0.76307132
117MP0002006_tumorigenesis0.76267243
118MP0000604_amyloidosis0.75869628
119MP0002452_abnormal_antigen_presenting0.74388705
120MP0001944_abnormal_pancreas_morphology0.74361000
121MP0000490_abnormal_crypts_of0.74114028
122MP0005253_abnormal_eye_physiology0.73789250
123MP0002166_altered_tumor_susceptibility0.73192498
124MP0004133_heterotaxia0.72841993
125MP0009764_decreased_sensitivity_to0.70104542
126MP0005000_abnormal_immune_tolerance0.69194536
127MP0002089_abnormal_postnatal_growth/wei0.67215104
128MP0009763_increased_sensitivity_to0.66560117
129MP0005334_abnormal_fat_pad0.65419685
130MP0006082_CNS_inflammation0.65412193
131MP0009642_abnormal_blood_homeostasis0.65072467
132MP0005165_increased_susceptibility_to0.64305609
133MP0005535_abnormal_body_temperature0.64027943
134MP0002723_abnormal_immune_serum0.63672222
135MP0002254_reproductive_system_inflammat0.62836900
136* MP0002420_abnormal_adaptive_immunity0.62438263
137MP0005025_abnormal_response_to0.60840066
138MP0000689_abnormal_spleen_morphology0.60097036
139MP0004019_abnormal_vitamin_homeostasis0.59774152
140MP0002135_abnormal_kidney_morphology0.59386585
141* MP0001915_intracranial_hemorrhage0.57944892
142* MP0001819_abnormal_immune_cell0.57750921
143MP0001756_abnormal_urination0.57355239
144MP0002136_abnormal_kidney_physiology0.56310143
145MP0004782_abnormal_surfactant_physiolog0.56251133
146MP0003953_abnormal_hormone_level0.55528975
147MP0008995_early_reproductive_senescence0.54840279
148MP0003690_abnormal_glial_cell0.53991016
149MP0002148_abnormal_hypersensitivity_rea0.53806974
150MP0005451_abnormal_body_composition0.53469591
151MP0008872_abnormal_physiological_respon0.52011585
152MP0002405_respiratory_system_inflammati0.51251617
153MP0001764_abnormal_homeostasis0.50871976
154MP0010155_abnormal_intestine_physiology0.50696950
155MP0000371_diluted_coat_color0.49813381
156MP0003566_abnormal_cell_adhesion0.49252169
157MP0000465_gastrointestinal_hemorrhage0.48949420
158MP0009697_abnormal_copulation0.48776701
159MP0005671_abnormal_response_to0.48672085
160MP0009278_abnormal_bone_marrow0.48309503
161MP0004130_abnormal_muscle_cell0.48155425

Predicted human phenotypes

RankGene SetZ-score
1Steatorrhea (HP:0002570)6.48742625
2Fat malabsorption (HP:0002630)5.82835501
3Stomatitis (HP:0010280)5.26341585
4Abnormal ciliary motility (HP:0012262)4.63123198
5Abnormal respiratory motile cilium morphology (HP:0005938)4.55733907
6Abnormal respiratory epithelium morphology (HP:0012253)4.55733907
7Abnormality of aromatic amino acid family metabolism (HP:0004338)4.52868769
8Rhinitis (HP:0012384)3.86203455
9Myocardial infarction (HP:0001658)3.84313644
10Abnormal respiratory motile cilium physiology (HP:0012261)3.83095229
11Deep venous thrombosis (HP:0002625)3.70562157
12Absent/shortened dynein arms (HP:0200106)3.54281598
13Dynein arm defect of respiratory motile cilia (HP:0012255)3.54281598
14Ketosis (HP:0001946)3.49011587
15Abnormality of monocarboxylic acid metabolism (HP:0010996)3.48732045
16Petechiae (HP:0000967)3.45843141
17Vacuolated lymphocytes (HP:0001922)3.43365898
18Gout (HP:0001997)3.41293022
19Abnormality of sulfur amino acid metabolism (HP:0004339)3.38234920
20Obstructive lung disease (HP:0006536)3.38207083
21Chronic obstructive pulmonary disease (HP:0006510)3.38207083
22Chronic sinusitis (HP:0011109)3.36115944
23Abnormality of the intrinsic pathway (HP:0010989)3.27222750
24Intrahepatic cholestasis (HP:0001406)3.20916294
25Hyperglycinuria (HP:0003108)3.15425291
26Abnormality of the common coagulation pathway (HP:0010990)3.11239770
27Spontaneous hematomas (HP:0007420)3.01062935
28Episodic fever (HP:0001954)2.92639105
29Dysostosis multiplex (HP:0000943)2.92421988
30Cortical dysplasia (HP:0002539)2.91125071
31Increased muscle lipid content (HP:0009058)2.90697083
32Severe visual impairment (HP:0001141)2.87781952
33Thoracic kyphosis (HP:0002942)2.86692093
34Tubulointerstitial nephritis (HP:0001970)2.86393971
35Systemic lupus erythematosus (HP:0002725)2.84369797
36Pancreatitis (HP:0001733)2.84369225
37Hyperammonemia (HP:0001987)2.83024748
38Complement deficiency (HP:0004431)2.82623538
39Urinary glycosaminoglycan excretion (HP:0003541)2.82101691
40Mucopolysacchariduria (HP:0008155)2.82101691
41Xanthomatosis (HP:0000991)2.79808964
42Elevated erythrocyte sedimentation rate (HP:0003565)2.77005193
43Renal Fanconi syndrome (HP:0001994)2.73247770
44Exocrine pancreatic insufficiency (HP:0001738)2.72911624
45Hyperglycinemia (HP:0002154)2.71801876
46Abnormal delayed hypersensitivity skin test (HP:0002963)2.69950757
47Abnormal pupillary function (HP:0007686)2.65768439
48Abnormal tarsal ossification (HP:0008369)2.64310319
49Abnormality of serine family amino acid metabolism (HP:0010894)2.63587964
50Abnormality of glycine metabolism (HP:0010895)2.63587964
51Abnormality of the heme biosynthetic pathway (HP:0010472)2.62271475
52Prolonged bleeding time (HP:0003010)2.61739441
53Tinnitus (HP:0000360)2.61189217
54Abnormality of mucopolysaccharide metabolism (HP:0011020)2.60986972
55Abnormality of polysaccharide metabolism (HP:0011012)2.60986972
56Abnormality of glycosaminoglycan metabolism (HP:0004371)2.60986972
57Recurrent gram-negative bacterial infections (HP:0005420)2.59987810
58Increased intramyocellular lipid droplets (HP:0012240)2.58629056
59Esophageal varix (HP:0002040)2.58073384
60Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.56152133
61Recurrent bacterial skin infections (HP:0005406)2.56128673
62Lipid accumulation in hepatocytes (HP:0006561)2.54697649
63Increased cerebral lipofuscin (HP:0011813)2.52176738
64Bronchiectasis (HP:0002110)2.50665077
65Abnormality of the thoracic spine (HP:0100711)2.49250410
66Abnormality of methionine metabolism (HP:0010901)2.48640041
67Abnormality of the renal cortex (HP:0011035)2.48011870
68Hyperthyroidism (HP:0000836)2.47504812
69Mediastinal lymphadenopathy (HP:0100721)2.45178844
70Hyperlipoproteinemia (HP:0010980)2.44657983
71Abnormality of fatty-acid metabolism (HP:0004359)2.44401940
72Recurrent abscess formation (HP:0002722)2.42402075
73Abnormality of glutamine family amino acid metabolism (HP:0010902)2.41861531
74Abnormality of aspartate family amino acid metabolism (HP:0010899)2.41253173
75Hepatocellular carcinoma (HP:0001402)2.36981289
76Nephronophthisis (HP:0000090)2.36050551
77Ketoacidosis (HP:0001993)2.36006991
78Hand muscle atrophy (HP:0009130)2.35304842
79Mitral stenosis (HP:0001718)2.32634815
80Deformed sella turcica (HP:0002681)2.31644770
81Abnormality of the lumbar spine (HP:0100712)2.29742877
82Hypobetalipoproteinemia (HP:0003563)2.29413705
83Amyloidosis (HP:0011034)2.29134483
84Abnormal rod and cone electroretinograms (HP:0008323)2.26782323
85Colitis (HP:0002583)2.26283821
86Tubular atrophy (HP:0000092)2.24824219
87Hypoglycemic coma (HP:0001325)2.23906812
88Fatigue (HP:0012378)2.23380484
89Abnormality of complement system (HP:0005339)2.21016713
90Abnormality of the renal medulla (HP:0100957)2.20759566
91Short chin (HP:0000331)2.20010560
92Joint hemorrhage (HP:0005261)2.17905103
93Encephalitis (HP:0002383)2.17805913
94Abnormal number of erythroid precursors (HP:0012131)2.15950497
95Oligodactyly (hands) (HP:0001180)2.14356100
96Premature skin wrinkling (HP:0100678)2.13489657
97Joint stiffness (HP:0001387)2.12869928
98Panhypogammaglobulinemia (HP:0003139)2.12854723
99Abnormality of endocrine pancreas physiology (HP:0012093)2.12797264
100Abnormality of the pancreatic islet cells (HP:0006476)2.12797264
101Recurrent sinusitis (HP:0011108)2.12406811
102Tubulointerstitial fibrosis (HP:0005576)2.12058767
103Autoimmune thrombocytopenia (HP:0001973)2.11919959
104Optic nerve coloboma (HP:0000588)2.11019501
105Type I diabetes mellitus (HP:0100651)2.10143916
106Lymphangioma (HP:0100764)2.09010708
107Periodontitis (HP:0000704)2.06720856
108Spastic diplegia (HP:0001264)2.06688569
109Increased neuronal autofluorescent lipopigment (HP:0002074)2.06457572
110Attenuation of retinal blood vessels (HP:0007843)2.05603367
111Epidermoid cyst (HP:0200040)2.04590681
112Hypokalemic alkalosis (HP:0001949)2.04168175
113Aplasia/Hypoplasia of the thymus (HP:0010515)2.03074691
114Arterial thrombosis (HP:0004420)2.02560555
115Pancreatic cysts (HP:0001737)2.01801007
116Abnormality of renal resorption (HP:0011038)2.01752061
117Opisthotonus (HP:0002179)2.01474454
118Purpura (HP:0000979)2.01308106
119Hypercholesterolemia (HP:0003124)1.99444061
120Flat acetabular roof (HP:0003180)1.97714818
121Chronic otitis media (HP:0000389)1.97407339
122Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.97000915
123Truncus arteriosus (HP:0001660)1.95803680
124Clumsiness (HP:0002312)1.95761443
125Alkalosis (HP:0001948)1.95549989
126Hyperbilirubinemia (HP:0002904)1.94709639
127Urticaria (HP:0001025)1.94442888
128Abnormality of macrophages (HP:0004311)1.94168882
129Esophageal neoplasm (HP:0100751)1.94003231
130Neoplasm of head and neck (HP:0012288)1.94003231
131Large eyes (HP:0001090)1.93936790
132Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.93149651
133Absent rod-and cone-mediated responses on ERG (HP:0007688)1.93091454
134Prolonged partial thromboplastin time (HP:0003645)1.91818677
135Cardiomegaly (HP:0001640)1.91449567
136Abnormality of the vocal cords (HP:0008777)1.90905851
137Increased hepatocellular lipid droplets (HP:0006565)1.90844517
138Abnormal large intestine physiology (HP:0012700)1.90654616
139Stomach cancer (HP:0012126)1.90421183
140Axonal loss (HP:0003447)1.89797759
141Abnormality of T cell physiology (HP:0011840)1.89262250
142Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.89073437
143Meningitis (HP:0001287)1.88813836
144Hypolipoproteinemia (HP:0010981)1.88081551
145Myositis (HP:0100614)1.88057791
146Vascular calcification (HP:0004934)1.87529212
147Conjugated hyperbilirubinemia (HP:0002908)1.86718807
148Abnormality of T cells (HP:0002843)1.86100867
149Hypoalphalipoproteinemia (HP:0003233)1.85803956
150Polydipsia (HP:0001959)1.84897719
151Abnormal drinking behavior (HP:0030082)1.84897719
152Abnormality of pyrimidine metabolism (HP:0004353)1.84851770
153Abnormal foot bone ossification (HP:0010675)1.84465472
154Renal salt wasting (HP:0000127)1.84337759
155Recurrent cutaneous fungal infections (HP:0011370)1.84188418
156Chronic mucocutaneous candidiasis (HP:0002728)1.84188418
157Gastrointestinal inflammation (HP:0004386)1.83788173
158Late onset (HP:0003584)1.82782677
159Neutropenia (HP:0001875)1.82016619
160Glomerulonephritis (HP:0000099)1.81988187
161Respiratory difficulties (HP:0002880)1.81461468
162Tubulointerstitial abnormality (HP:0001969)1.80829832
163Pulmonary infiltrates (HP:0002113)1.79575945
164Recurrent fungal infections (HP:0002841)1.78717551
165Male infertility (HP:0003251)1.78494989
166Abnormality of nucleobase metabolism (HP:0010932)1.77008057
167Epistaxis (HP:0000421)1.76044821
168Cerebellar dysplasia (HP:0007033)1.75381456
169Inflammation of the large intestine (HP:0002037)1.75342716
170Retrobulbar optic neuritis (HP:0100654)1.75096609
171Optic neuritis (HP:0100653)1.75096609
172Abnormality of dental color (HP:0011073)1.74855509
173Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.74698346
174Polycythemia (HP:0001901)1.73663328
175J-shaped sella turcica (HP:0002680)1.73176358
176Pallor (HP:0000980)1.73129141
177Abnormality of subcutaneous fat tissue (HP:0001001)1.73102767
178Abnormality of purine metabolism (HP:0004352)1.73086201
179Diastasis recti (HP:0001540)1.73007779
180Abnormality of glycosphingolipid metabolism (HP:0004343)1.71699404
181Abnormality of glycolipid metabolism (HP:0010969)1.71699404
182Abnormality of liposaccharide metabolism (HP:0010968)1.71699404
183Hypoproteinemia (HP:0003075)1.71615969
184Atelectasis (HP:0100750)1.70578688
185Hypertensive crisis (HP:0100735)1.69524021
186Aplasia/Hypoplasia of the sacrum (HP:0008517)1.67756422
187Paralysis (HP:0003470)1.67419728
188Bowel incontinence (HP:0002607)1.67229180
189Type I transferrin isoform profile (HP:0003642)1.67227467
190Neuroendocrine neoplasm (HP:0100634)1.66125165
191True hermaphroditism (HP:0010459)1.64833785
192Aplasia/Hypoplasia of the earlobes (HP:0009906)1.63835171

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.30952671
2PDK26.13139496
3ERN15.76891743
4TRIB34.24768312
5PKN23.92826812
6TXK3.91511217
7CAMKK12.78432361
8MAP3K102.61519553
9PASK2.61164920
10PNCK2.56880695
11STK162.49123922
12EIF2AK32.46556790
13MAP4K12.46308046
14SCYL22.42022796
15TNK22.33398823
16NUAK12.10110782
17FRK1.95162502
18OXSR11.81052328
19FLT31.73029142
20ADRBK21.73008868
21PTK61.68505242
22ZAP701.66628183
23TAOK31.59491883
24SIK11.58327317
25TLK11.52751641
26BMPR21.48998858
27MST41.48680960
28MAPK151.44765631
29TEC1.43406880
30EPHB11.35470859
31NME11.34744647
32STK391.32562297
33MATK1.32023103
34KIT1.31839804
35TBK11.28978674
36NEK91.27426858
37IRAK31.26705359
38WNK41.25093942
39IRAK41.23352294
40TGFBR21.23091137
41MAP4K21.17535080
42DAPK21.13444791
43EEF2K1.13222941
44CAMK1D1.12798709
45GRK61.11845794
46YES11.09394401
47RIPK11.09040288
48LRRK21.08279092
49CSF1R1.06056149
50MAPK131.02964001
51WEE11.02374202
52HCK1.02342966
53TYK21.00208786
54ZAK0.95574109
55PAK20.94589490
56FES0.93737349
57BLK0.91440154
58IRAK10.88045868
59CAMKK20.86936525
60JAK20.85743219
61FGR0.85006247
62PRKD20.84676436
63STK110.81118423
64JAK10.80523102
65ITK0.79765543
66PAK40.79715978
67BMPR1B0.79127280
68INSRR0.79051359
69TRIM280.78090635
70NEK60.76807378
71SGK30.76007487
72RIPK40.75950661
73MUSK0.75647531
74NTRK30.74382831
75PRKCQ0.74087063
76BTK0.73514073
77PTK2B0.70321000
78IRAK20.69236962
79EIF2AK10.68803306
80RPS6KA10.68374942
81CSK0.68308206
82LMTK20.68107883
83MAPK110.66139171
84TAOK20.65535204
85PLK40.64935568
86RPS6KA50.64681353
87PIM10.63570663
88RAF10.63448692
89LCK0.63315170
90SYK0.62836738
91RET0.62126099
92EPHB20.61977232
93TESK10.60986667
94MAPK120.60985638
95FGFR40.60864813
96KSR20.60743474
97CASK0.59234274
98PAK60.58836511
99MAP2K30.57405055
100PRKCH0.55889235
101SGK20.54262278
102MKNK20.53844719
103ERBB20.52694660
104MAP2K60.52650988
105VRK10.51782691
106KDR0.50811464
107PINK10.50024968
108SIK20.49720572
109NME20.48889537
110SGK4940.48140722
111SGK2230.48140722
112ERBB30.48096068
113DYRK30.46650823
114MAP3K140.46633715
115MKNK10.46596196
116PDGFRB0.46285801
117CHUK0.46284652
118MTOR0.46196720
119DYRK20.46194226
120IKBKB0.44985827
121PDK10.44747136
122MAP3K20.43426404
123MAPKAPK30.43368149
124CDK60.43261344
125MAP3K40.43042157
126LYN0.43033335
127STK100.42681589
128CAMK1G0.40518489
129MAP3K10.40455989
130* MAPK30.39429394
131FGFR30.39389467
132MAPK40.39358566
133* PRKCZ0.37255183
134JAK30.36683229
135CDK190.36571219
136PDPK10.36149682
137IKBKE0.35801443
138PTK20.34598635
139PIK3CG0.34227720
140NLK0.33763500
141* ABL10.33495206
142RPS6KA60.33329760
143TIE10.32883951
144ACVR1B0.32122806
145CDK40.31927585
146DYRK1B0.31720778
147PRKACG0.31467804
148MARK30.31335392
149MAP3K110.30783630
150MAP3K70.30529435
151BMX0.30508092
152* MAP2K20.30067358
153MAPK70.28862294
154RPS6KB20.27932463
155PRKCD0.27711121
156PDGFRA0.27628700

Predicted pathways (KEGG)

RankGene SetZ-score
1Pancreatic secretion_Homo sapiens_hsa049724.84336803
2Fat digestion and absorption_Homo sapiens_hsa049754.42379318
3Protein digestion and absorption_Homo sapiens_hsa049743.08821894
4Asthma_Homo sapiens_hsa053103.03862458
5Graft-versus-host disease_Homo sapiens_hsa053323.03560039
6Primary bile acid biosynthesis_Homo sapiens_hsa001202.92324866
7Autoimmune thyroid disease_Homo sapiens_hsa053202.81553839
8Allograft rejection_Homo sapiens_hsa053302.70875877
9Primary immunodeficiency_Homo sapiens_hsa053402.65513850
10Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.59247615
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.58199444
12Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.43657673
13Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.42491372
14Glycerolipid metabolism_Homo sapiens_hsa005612.39515467
15Type I diabetes mellitus_Homo sapiens_hsa049402.38957864
16Nitrogen metabolism_Homo sapiens_hsa009102.24466748
17Arginine biosynthesis_Homo sapiens_hsa002202.19588217
18Regulation of autophagy_Homo sapiens_hsa041402.05410849
19Cyanoamino acid metabolism_Homo sapiens_hsa004602.04321726
20Intestinal immune network for IgA production_Homo sapiens_hsa046722.03869532
21Propanoate metabolism_Homo sapiens_hsa006402.01925488
222-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.01217860
23Antigen processing and presentation_Homo sapiens_hsa046121.99499008
24Linoleic acid metabolism_Homo sapiens_hsa005911.90989537
25Fatty acid degradation_Homo sapiens_hsa000711.90673641
26Fatty acid elongation_Homo sapiens_hsa000621.83737990
27Ovarian steroidogenesis_Homo sapiens_hsa049131.80901239
28Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.80756018
29Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.80360836
30Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.78991301
31Tryptophan metabolism_Homo sapiens_hsa003801.76952196
32alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.75584632
33Folate biosynthesis_Homo sapiens_hsa007901.75058259
34Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.73614971
35NOD-like receptor signaling pathway_Homo sapiens_hsa046211.73062750
36Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.70070674
37Steroid biosynthesis_Homo sapiens_hsa001001.65221157
38Vitamin digestion and absorption_Homo sapiens_hsa049771.63076409
39Starch and sucrose metabolism_Homo sapiens_hsa005001.62770005
40Other glycan degradation_Homo sapiens_hsa005111.58277308
41Complement and coagulation cascades_Homo sapiens_hsa046101.53471060
42Glycosaminoglycan degradation_Homo sapiens_hsa005311.53210332
43Hematopoietic cell lineage_Homo sapiens_hsa046401.52453934
44Basal transcription factors_Homo sapiens_hsa030221.48474252
45Staphylococcus aureus infection_Homo sapiens_hsa051501.45246112
46Arachidonic acid metabolism_Homo sapiens_hsa005901.40306798
47Renin-angiotensin system_Homo sapiens_hsa046141.38306804
48Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.37746749
49Ribosome_Homo sapiens_hsa030101.35660900
50Biosynthesis of amino acids_Homo sapiens_hsa012301.35152804
51Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.35125631
52Rheumatoid arthritis_Homo sapiens_hsa053231.34217873
53Selenocompound metabolism_Homo sapiens_hsa004501.33150560
54Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.32294954
55Peroxisome_Homo sapiens_hsa041461.29135611
56Maturity onset diabetes of the young_Homo sapiens_hsa049501.28287765
57Fatty acid metabolism_Homo sapiens_hsa012121.28150428
58Pentose and glucuronate interconversions_Homo sapiens_hsa000401.28026633
59beta-Alanine metabolism_Homo sapiens_hsa004101.26656002
60Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.23548699
61Glycerophospholipid metabolism_Homo sapiens_hsa005641.18875015
62Olfactory transduction_Homo sapiens_hsa047401.18009132
63SNARE interactions in vesicular transport_Homo sapiens_hsa041301.15762454
64Ether lipid metabolism_Homo sapiens_hsa005651.14395739
65Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.13962431
66Caffeine metabolism_Homo sapiens_hsa002321.12266127
67PPAR signaling pathway_Homo sapiens_hsa033201.10227668
68Lysosome_Homo sapiens_hsa041421.02629772
69NF-kappa B signaling pathway_Homo sapiens_hsa040641.01312724
70Cysteine and methionine metabolism_Homo sapiens_hsa002701.00738108
71Bile secretion_Homo sapiens_hsa049761.00214425
72One carbon pool by folate_Homo sapiens_hsa006700.98777978
73Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.96736122
74Homologous recombination_Homo sapiens_hsa034400.95221980
75Notch signaling pathway_Homo sapiens_hsa043300.94933801
76Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.94172823
77Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.93938773
78Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.93383895
79* Legionellosis_Homo sapiens_hsa051340.90060248
80Lysine degradation_Homo sapiens_hsa003100.87749545
81Parkinsons disease_Homo sapiens_hsa050120.87687015
82Drug metabolism - other enzymes_Homo sapiens_hsa009830.86692335
83Chemokine signaling pathway_Homo sapiens_hsa040620.84019543
84* Viral myocarditis_Homo sapiens_hsa054160.83740530
85Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.82404594
86Fanconi anemia pathway_Homo sapiens_hsa034600.82203859
87Pyruvate metabolism_Homo sapiens_hsa006200.81758219
88Butanoate metabolism_Homo sapiens_hsa006500.81247520
89Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.80993674
90Non-homologous end-joining_Homo sapiens_hsa034500.79628505
91Carbohydrate digestion and absorption_Homo sapiens_hsa049730.79500928
92Herpes simplex infection_Homo sapiens_hsa051680.78219956
93Arginine and proline metabolism_Homo sapiens_hsa003300.77700671
94Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.77253325
95Carbon metabolism_Homo sapiens_hsa012000.76932601
96Chemical carcinogenesis_Homo sapiens_hsa052040.76150127
97Measles_Homo sapiens_hsa051620.75761496
98Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.75344560
99Dorso-ventral axis formation_Homo sapiens_hsa043200.73595642
100B cell receptor signaling pathway_Homo sapiens_hsa046620.73482866
101Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.73124395
102Oxidative phosphorylation_Homo sapiens_hsa001900.72328024
103RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.71257199
104Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.70806426
105ABC transporters_Homo sapiens_hsa020100.65685482
106Sphingolipid metabolism_Homo sapiens_hsa006000.65461433
107Systemic lupus erythematosus_Homo sapiens_hsa053220.64402013
108Histidine metabolism_Homo sapiens_hsa003400.63853357
109Jak-STAT signaling pathway_Homo sapiens_hsa046300.63596556
110Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.63290980
111Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.62155551
112* Influenza A_Homo sapiens_hsa051640.61448985
113Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.59408119
114Transcriptional misregulation in cancer_Homo sapiens_hsa052020.58397148
115N-Glycan biosynthesis_Homo sapiens_hsa005100.58093040
116T cell receptor signaling pathway_Homo sapiens_hsa046600.56577079
117Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.56266151
118Huntingtons disease_Homo sapiens_hsa050160.54923579
119Insulin resistance_Homo sapiens_hsa049310.51716871
120Leishmaniasis_Homo sapiens_hsa051400.51703970
121Sulfur relay system_Homo sapiens_hsa041220.51210871
122Phagosome_Homo sapiens_hsa041450.47082351
123Steroid hormone biosynthesis_Homo sapiens_hsa001400.46010704
124Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.43588656
125Retinol metabolism_Homo sapiens_hsa008300.43180500
126Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.42683894
127Collecting duct acid secretion_Homo sapiens_hsa049660.42669947
128Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.42598398
129Phenylalanine metabolism_Homo sapiens_hsa003600.41365513
130Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.40987755
131Fructose and mannose metabolism_Homo sapiens_hsa000510.40336039
132Pentose phosphate pathway_Homo sapiens_hsa000300.37394491
133Central carbon metabolism in cancer_Homo sapiens_hsa052300.37055151
134Mismatch repair_Homo sapiens_hsa034300.36655505
135* Tuberculosis_Homo sapiens_hsa051520.34478436
136Base excision repair_Homo sapiens_hsa034100.33890242
137Toll-like receptor signaling pathway_Homo sapiens_hsa046200.33254999
138Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.33015104
139Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.31883502
140Glutathione metabolism_Homo sapiens_hsa004800.30916183
141* Toxoplasmosis_Homo sapiens_hsa051450.29376549
142Adipocytokine signaling pathway_Homo sapiens_hsa049200.29159457
143Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.28761406
144Neurotrophin signaling pathway_Homo sapiens_hsa047220.26858718
145Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.24971574
146Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.24620973
147Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.24050924
148Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.22225774
149Fatty acid biosynthesis_Homo sapiens_hsa000610.21690950
150mTOR signaling pathway_Homo sapiens_hsa041500.21387199
151Protein export_Homo sapiens_hsa030600.21056584
152Osteoclast differentiation_Homo sapiens_hsa043800.20977642
153* Apoptosis_Homo sapiens_hsa042100.18018305
154Pertussis_Homo sapiens_hsa051330.17732464
155Acute myeloid leukemia_Homo sapiens_hsa052210.17347001
156Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.17277698
157Galactose metabolism_Homo sapiens_hsa000520.17060776
158AMPK signaling pathway_Homo sapiens_hsa041520.15530525
159Metabolic pathways_Homo sapiens_hsa011000.15252051
160Platelet activation_Homo sapiens_hsa046110.14766865
161Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.13112804

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