NLRP12

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 CATERPILLER family of cytoplasmic proteins. The encoded protein, which contains an N-terminal pyrin domain, a NACHT domain, a NACHT-associated domain, and a C-terminus leucine-rich repeat region, functions as an attenuating factor of inflammation by suppressing inflammatory responses in activated monocytes. Mutations in this gene cause familial cold autoinflammatory syndrome type 2. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of cell killing (GO:0031342)6.25339081
2negative regulation of leukocyte mediated cytotoxicity (GO:0001911)6.25339081
3antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G6.11856322
4positive regulation by organism of defense response of other organism involved in symbiotic interact6.06758383
5modulation by symbiont of host immune response (GO:0052553)6.06758383
6positive regulation by symbiont of host defense response (GO:0052509)6.06758383
7modulation by symbiont of host defense response (GO:0052031)6.06758383
8modulation by organism of immune response of other organism involved in symbiotic interaction (GO:006.06758383
9modulation by organism of defense response of other organism involved in symbiotic interaction (GO:06.06758383
10positive regulation of gamma-delta T cell activation (GO:0046645)5.77540506
11neutrophil activation involved in immune response (GO:0002283)5.55615018
12regulation of posttranscriptional gene silencing (GO:0060147)5.25255592
13regulation of gene silencing by miRNA (GO:0060964)5.25255592
14regulation of gene silencing by RNA (GO:0060966)5.25255592
15negative regulation of retinoic acid receptor signaling pathway (GO:0048387)5.21990279
16detection of other organism (GO:0098543)5.14727212
17DNA replication-dependent nucleosome assembly (GO:0006335)5.02458665
18DNA replication-dependent nucleosome organization (GO:0034723)5.02458665
19regulation of B cell receptor signaling pathway (GO:0050855)4.95682328
20macrophage activation involved in immune response (GO:0002281)4.93823046
21antigen processing and presentation of endogenous antigen (GO:0019883)4.80655339
22leukocyte migration involved in inflammatory response (GO:0002523)4.77588468
23cellular extravasation (GO:0045123)4.77207003
24detection of bacterium (GO:0016045)4.77105252
25glycine metabolic process (GO:0006544)4.76589795
26neutrophil activation (GO:0042119)4.76281547
27antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.75902486
28leukocyte aggregation (GO:0070486)4.65052383
29detection of molecule of bacterial origin (GO:0032490)4.64967236
30microglial cell activation (GO:0001774)4.57273503
31regulation of interferon-beta biosynthetic process (GO:0045357)4.54942769
32response to peptidoglycan (GO:0032494)4.53184733
33negative regulation of interleukin-12 production (GO:0032695)4.48528217
34detection of external biotic stimulus (GO:0098581)4.47904719
35neutrophil mediated immunity (GO:0002446)4.47874566
36negative regulation of lymphocyte mediated immunity (GO:0002707)4.46020490
37respiratory burst (GO:0045730)4.40699808
38serine family amino acid catabolic process (GO:0009071)4.37020906
39positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)4.30515841
40regulation of gamma-delta T cell activation (GO:0046643)4.29348125
41positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.21580478
42response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.17249988
43response to host immune response (GO:0052572)4.17249988
44response to interleukin-15 (GO:0070672)4.17232845
45granulocyte activation (GO:0036230)4.16013501
46antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.14654564
47tetrahydrofolate metabolic process (GO:0046653)4.14340516
48nuclear pore organization (GO:0006999)4.12808632
49erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.07641082
50L-phenylalanine catabolic process (GO:0006559)4.07641082
51serine family amino acid biosynthetic process (GO:0009070)4.06817696
52aromatic amino acid family catabolic process (GO:0009074)4.06277284
53urea metabolic process (GO:0019627)4.05803457
54urea cycle (GO:0000050)4.05803457
55cellular response to interleukin-15 (GO:0071350)4.04318721
56protein K6-linked ubiquitination (GO:0085020)4.03869396
57macrophage activation (GO:0042116)4.02995272
58detection of biotic stimulus (GO:0009595)4.02853382
59imidazole-containing compound metabolic process (GO:0052803)4.00667454
60tryptophan catabolic process (GO:0006569)4.00250900
61indole-containing compound catabolic process (GO:0042436)4.00250900
62indolalkylamine catabolic process (GO:0046218)4.00250900
63regulation of helicase activity (GO:0051095)4.00115195
64L-phenylalanine metabolic process (GO:0006558)3.99685495
65erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.99685495
66positive regulation of mast cell activation (GO:0033005)3.98836403
67folic acid-containing compound biosynthetic process (GO:0009396)3.98159268
68negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.91252289
69negative regulation of T cell mediated immunity (GO:0002710)3.91238999
70serine family amino acid metabolic process (GO:0009069)3.90809927
71regulation of retinoic acid receptor signaling pathway (GO:0048385)3.90730434
72nuclear pore complex assembly (GO:0051292)3.90060825
73myeloid cell activation involved in immune response (GO:0002275)3.86696939
74mitotic metaphase plate congression (GO:0007080)3.84370347
75tryptophan metabolic process (GO:0006568)3.81983387
76homocysteine metabolic process (GO:0050667)3.79489047
77myeloid leukocyte mediated immunity (GO:0002444)3.77164522
78regulation of mast cell activation (GO:0033003)3.76573872
79production of molecular mediator involved in inflammatory response (GO:0002532)3.71446365
80negative regulation of leukocyte mediated immunity (GO:0002704)3.68651257
81regulation of histone H3-K9 methylation (GO:0051570)3.68331210
82regulation of gamma-delta T cell differentiation (GO:0045586)3.67810879
83immunoglobulin mediated immune response (GO:0016064)3.67628565
84activated T cell proliferation (GO:0050798)3.67576655
85nucleobase biosynthetic process (GO:0046112)3.67371891
86DNA replication initiation (GO:0006270)3.66286506
87response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.65179451
88response to host (GO:0075136)3.65179451
89response to host defenses (GO:0052200)3.65179451
90cysteine metabolic process (GO:0006534)3.64593079
91kynurenine metabolic process (GO:0070189)3.64393588
92nitrogen cycle metabolic process (GO:0071941)3.63669460
93leukocyte degranulation (GO:0043299)3.60570574
94somatic diversification of immune receptors via somatic mutation (GO:0002566)3.59779735
95somatic hypermutation of immunoglobulin genes (GO:0016446)3.59779735
96regulation of mast cell degranulation (GO:0043304)3.59201169
97purine nucleobase biosynthetic process (GO:0009113)3.57486005
98triglyceride-rich lipoprotein particle remodeling (GO:0034370)3.57430718
99IMP biosynthetic process (GO:0006188)3.49842035
100positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)3.45207139
101regulation of mast cell activation involved in immune response (GO:0033006)3.44122315
102negative regulation of fatty acid biosynthetic process (GO:0045717)3.42118470
103bile acid biosynthetic process (GO:0006699)3.42082247
104folic acid-containing compound metabolic process (GO:0006760)3.38980587
105regulation of gene silencing (GO:0060968)3.35003282
106regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.34227002
107regulation of nuclear cell cycle DNA replication (GO:0033262)3.32910259
108folic acid metabolic process (GO:0046655)3.32212538
109regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)3.31405704
110antigen processing and presentation via MHC class Ib (GO:0002475)3.30943875
111defense response to protozoan (GO:0042832)3.28175787
112glyoxylate metabolic process (GO:0046487)3.28126690
113regulation of protein activation cascade (GO:2000257)3.26726619
114positive regulation of mast cell activation involved in immune response (GO:0033008)3.26242306
115positive regulation of mast cell degranulation (GO:0043306)3.26242306
116regulation of T cell mediated cytotoxicity (GO:0001914)3.25943186
117positive regulation of T cell mediated cytotoxicity (GO:0001916)3.25628392
118paraxial mesoderm development (GO:0048339)3.22736851
119regulation of myeloid leukocyte mediated immunity (GO:0002886)3.21609555
120negative regulation of adaptive immune response based on somatic recombination of immune receptors b3.21596547
121L-serine metabolic process (GO:0006563)3.20988189
122negative regulation of amyloid precursor protein catabolic process (GO:1902992)3.20047299
123chromatin remodeling at centromere (GO:0031055)3.19973996
124regulation of B cell differentiation (GO:0045577)3.18776212
125complement activation, alternative pathway (GO:0006957)3.18746548
126positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.18202302
127high-density lipoprotein particle remodeling (GO:0034375)3.17864500
128negative regulation of fibrinolysis (GO:0051918)3.17850581
129B cell receptor signaling pathway (GO:0050853)3.16698237
130negative regulation of telomere maintenance (GO:0032205)3.16327484
131negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)3.15361536
132negative regulation of T-helper cell differentiation (GO:0045623)3.15361536
133negative regulation of histone methylation (GO:0031061)3.15219676
134metaphase plate congression (GO:0051310)3.13229803
135alpha-amino acid catabolic process (GO:1901606)3.11958536
136sulfur amino acid catabolic process (GO:0000098)3.11566465
137NAD biosynthetic process (GO:0009435)3.09139768
138resolution of meiotic recombination intermediates (GO:0000712)3.08919339
139negative regulation of interleukin-1 beta production (GO:0032691)3.07938943
140regulation of tolerance induction (GO:0002643)3.07527717
141one-carbon metabolic process (GO:0006730)3.07158331
142aromatic amino acid family metabolic process (GO:0009072)3.07095904
143negative regulation of phagocytosis (GO:0050765)3.06287863
144tolerance induction (GO:0002507)3.05675675
145regulation of nitric-oxide synthase biosynthetic process (GO:0051769)3.05610346
146negative regulation of adaptive immune response (GO:0002820)3.03725845
147determination of adult lifespan (GO:0008340)3.03443176
148IMP metabolic process (GO:0046040)3.03436494
149regulation of fibrinolysis (GO:0051917)3.02747969
150regulation of T cell tolerance induction (GO:0002664)3.02350143
151regulation of complement activation (GO:0030449)3.01143064
152pore complex assembly (GO:0046931)3.00796938
153response to type I interferon (GO:0034340)3.00666343
154mast cell activation (GO:0045576)2.99997826
155type I interferon signaling pathway (GO:0060337)2.99391794
156cellular response to type I interferon (GO:0071357)2.99391794
157positive regulation of interferon-alpha production (GO:0032727)2.98550673
158neutrophil chemotaxis (GO:0030593)2.96768049
159negative regulation of alpha-beta T cell activation (GO:0046636)2.96655055
160regulation of alpha-beta T cell proliferation (GO:0046640)2.96621339
161regulation of telomere maintenance via telomerase (GO:0032210)2.96255663
162myeloid leukocyte activation (GO:0002274)2.95671069
163amino-acid betaine metabolic process (GO:0006577)2.95545812
164regulation of gene expression by genetic imprinting (GO:0006349)2.94319995
165regulation of leukocyte degranulation (GO:0043300)2.94011832
166regulation of regulatory T cell differentiation (GO:0045589)2.93987749
167meiotic chromosome segregation (GO:0045132)2.93523394
168superoxide anion generation (GO:0042554)2.92841159
169bile acid metabolic process (GO:0008206)2.91707392
170B cell mediated immunity (GO:0019724)2.91047967
171kinetochore assembly (GO:0051382)2.90659427
172interferon-gamma production (GO:0032609)2.89901134
173CENP-A containing nucleosome assembly (GO:0034080)2.89740689
174neutrophil migration (GO:1990266)2.89251717
175regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.88880433
176negative regulation of cAMP-mediated signaling (GO:0043951)2.88372274
177regulation of natural killer cell mediated immunity (GO:0002715)2.88051444
178regulation of natural killer cell mediated cytotoxicity (GO:0042269)2.88051444
179reciprocal meiotic recombination (GO:0007131)2.86929768
180reciprocal DNA recombination (GO:0035825)2.86929768
181pyrimidine nucleoside monophosphate biosynthetic process (GO:0009130)2.86632501
182nicotinamide nucleotide biosynthetic process (GO:0019359)2.84383427
183pyridine nucleotide biosynthetic process (GO:0019363)2.84383427
184arginine metabolic process (GO:0006525)2.84161200
185protein localization to kinetochore (GO:0034501)2.84056897
186kinetochore organization (GO:0051383)2.81510782
187pteridine-containing compound metabolic process (GO:0042558)2.80498748
188cellular amino acid catabolic process (GO:0009063)2.80317086
189chromatin assembly (GO:0031497)2.79931595
190tyrosine metabolic process (GO:0006570)2.79078728
191peptidyl-glutamic acid carboxylation (GO:0017187)2.78128018
192protein carboxylation (GO:0018214)2.78128018
193regulation of cholesterol esterification (GO:0010872)2.78124468
194indolalkylamine metabolic process (GO:0006586)2.77856009
195regulation of triglyceride catabolic process (GO:0010896)2.77167715
196cellular biogenic amine catabolic process (GO:0042402)2.76807253
197amine catabolic process (GO:0009310)2.76807253
198mismatch repair (GO:0006298)2.72672349
199urate metabolic process (GO:0046415)2.72290748
200ribosome biogenesis (GO:0042254)2.71593449

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1E2F7_22180533_ChIP-Seq_HELA_Human8.40619034
2IRF8_22096565_ChIP-ChIP_GC-B_Human5.62170771
3IRF8_21731497_ChIP-ChIP_J774_Mouse4.49335540
4FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse4.36270440
5STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.12774847
6E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.09309924
7BP1_19119308_ChIP-ChIP_Hs578T_Human3.89687686
8ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.62937351
9SMAD1_18555785_ChIP-Seq_MESCs_Mouse3.59059731
10EGR1_23403033_ChIP-Seq_LIVER_Mouse3.54701195
11MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.53875128
12SALL1_21062744_ChIP-ChIP_HESCs_Human3.37542892
13POU5F1_18700969_ChIP-ChIP_MESCs_Mouse3.32772661
14FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.31959440
15NACC1_18358816_ChIP-ChIP_MESCs_Mouse3.11776818
16IRF8_27001747_Chip-Seq_BMDM_Mouse3.11203353
17NANOG_18555785_ChIP-Seq_MESCs_Mouse3.06280504
18E2F4_17652178_ChIP-ChIP_JURKAT_Human2.95892276
19IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.90742145
20RUNX_20019798_ChIP-Seq_JUKART_Human2.82562452
21SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.81420387
22NANOG_18700969_ChIP-ChIP_MESCs_Mouse2.79996048
23FOXM1_23109430_ChIP-Seq_U2OS_Human2.78645286
24MYC_18555785_ChIP-Seq_MESCs_Mouse2.77465085
25IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.76489270
26KLF5_18264089_ChIP-ChIP_MESCs_Mouse2.75921904
27KLF4_18264089_ChIP-ChIP_MESCs_Mouse2.75921904
28KLF2_18264089_ChIP-ChIP_MESCs_Mouse2.75921904
29* SPI1_23547873_ChIP-Seq_NB4_Human2.71130730
30TCF3_18692474_ChIP-Seq_MESCs_Mouse2.53807031
31TCF3_18692474_ChIP-Seq_MEFs_Mouse2.47549564
32POU5F1_18358816_ChIP-ChIP_MESCs_Mouse2.39055077
33SPI1_23127762_ChIP-Seq_K562_Human2.37954008
34STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.33872607
35RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.32498836
36MYB_26560356_Chip-Seq_TH2_Human2.30554287
37MYC_19079543_ChIP-ChIP_MESCs_Mouse2.29132892
38* CEBPA_23403033_ChIP-Seq_LIVER_Mouse2.23729067
39MYBL2_22936984_ChIP-ChIP_MESCs_Mouse2.22740801
40RXR_22158963_ChIP-Seq_LIVER_Mouse2.21445500
41STAT3_1855785_ChIP-Seq_MESCs_Mouse2.20496967
42SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.17741400
43SMAD3_22036565_ChIP-Seq_ESCs_Mouse2.15777024
44MYB_21317192_ChIP-Seq_ERMYB_Mouse2.15748047
45NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.13139733
46ESR1_15608294_ChIP-ChIP_MCF-7_Human2.08413786
47KDM5B_21448134_ChIP-Seq_MESCs_Mouse2.07743470
48POU5F1_18555785_ChIP-Seq_MESCs_Mouse2.07716053
49MYC_19030024_ChIP-ChIP_MESCs_Mouse2.03171063
50SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.03137207
51FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.02898905
52PPARA_22158963_ChIP-Seq_LIVER_Mouse2.01804180
53SOX2_18555785_ChIP-Seq_MESCs_Mouse2.01415631
54ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.99992851
55SCL_19346495_ChIP-Seq_HPC-7_Human1.98920949
56E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.96928347
57LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.96369497
58NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.95599687
59FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.94614353
60VDR_24763502_ChIP-Seq_THP-1_Human1.92773724
61* CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.91108113
62GATA3_27048872_Chip-Seq_THYMUS_Human1.91105611
63NELFA_20434984_ChIP-Seq_ESCs_Mouse1.90960118
64VDR_24787735_ChIP-Seq_THP-1_Human1.89420334
65GATA3_26560356_Chip-Seq_TH2_Human1.88957957
66SMAD_19615063_ChIP-ChIP_OVARY_Human1.83206881
67VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.81830421
68MYB_26560356_Chip-Seq_TH1_Human1.80492295
69MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.79462415
70RUNX1_22412390_ChIP-Seq_EML_Mouse1.78286023
71Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.76035468
72LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.74845327
73STAT4_19710469_ChIP-ChIP_TH1__Mouse1.73112934
74CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.72792627
75MAF_26560356_Chip-Seq_TH1_Human1.72332381
76MYC_18358816_ChIP-ChIP_MESCs_Mouse1.70729106
77NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.70314916
78SOX2_18692474_ChIP-Seq_MESCs_Mouse1.68118368
79PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.59905390
80KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human1.59660522
81UTX_26944678_Chip-Seq_JUKART_Human1.59629890
82AR_21909140_ChIP-Seq_LNCAP_Human1.58725520
83SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.56949311
84SOX2_18692474_ChIP-Seq_MEFs_Mouse1.54013160
85ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.53375550
86LXR_22158963_ChIP-Seq_LIVER_Mouse1.52478897
87E2F1_18555785_ChIP-Seq_MESCs_Mouse1.51629496
88NANOG_18692474_ChIP-Seq_MESCs_Mouse1.48668329
89KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.47588787
90BRD4_27068464_Chip-Seq_AML-cells_Mouse1.46516781
91E2F1_21310950_ChIP-Seq_MCF-7_Human1.46307477
92NOTCH1_21737748_ChIP-Seq_TLL_Human1.46049788
93ZNF274_21170338_ChIP-Seq_K562_Hela1.45670846
94NANOG_18692474_ChIP-Seq_MEFs_Mouse1.44235614
95KLF4_19030024_ChIP-ChIP_MESCs_Mouse1.43179726
96IKZF1_21737484_ChIP-ChIP_HCT116_Human1.43150874
97CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.42445447
98KAP1_27257070_Chip-Seq_ESCs_Mouse1.40267532
99CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.39798093
100PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.37925672
101VDR_21846776_ChIP-Seq_THP-1_Human1.37837626
102MYCN_18555785_ChIP-Seq_MESCs_Mouse1.37295617
103FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.36696760
104POU5F1_16518401_ChIP-PET_MESCs_Mouse1.34987383
105EGR1_19374776_ChIP-ChIP_THP-1_Human1.34662050
106GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.30427370
107GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.29121434
108POU5F1_18692474_ChIP-Seq_MESCs_Mouse1.27861599
109VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.27068921
110MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.26611185
111SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.25818782
112SMRT_27268052_Chip-Seq_Bcells_Human1.24811605
113NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.22855171
114GATA1_19941827_ChIP-Seq_MEL_Mouse1.22809302
115OCT4_18692474_ChIP-Seq_MEFs_Mouse1.21388668
116KAP1_22055183_ChIP-Seq_ESCs_Mouse1.21077880
117JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.20652081
118ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.20461393
119SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.19507567
120SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.18348385
121MAF_26560356_Chip-Seq_TH2_Human1.18095437
122MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.17999700
123RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.16786438
124EST1_17652178_ChIP-ChIP_JURKAT_Human1.14306334
125PU_27001747_Chip-Seq_BMDM_Mouse1.13769848
126FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.12621048
127ELF1_17652178_ChIP-ChIP_JURKAT_Human1.12367878
128XRN2_22483619_ChIP-Seq_HELA_Human1.11363697
129SOX2_19030024_ChIP-ChIP_MESCs_Mouse1.10909272
130CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.10334191
131HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.10161171
132TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.10106881
133NANOG_16518401_ChIP-PET_MESCs_Mouse1.08665825
134EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.07446250
135RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.06978161
136POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.06669494
137BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.05276736
138CREB1_15753290_ChIP-ChIP_HEK293T_Human1.05103391
139* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.02651112
140GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00799982
141* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.00646289
142GATA2_22383799_ChIP-Seq_G1ME_Mouse1.00000306
143RUNX1_22897851_ChIP-Seq_JUKARTE6-1_Human0.98520395
144GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human0.97013545
145TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.96091241
146ETV2_25802403_ChIP-Seq_MESCs_Mouse0.95914027
147SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.95769463
148STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.95548098
149CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.94947938
150RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.94015831
151GATA3_26560356_Chip-Seq_TH1_Human0.93396172
152ETS1_20019798_ChIP-Seq_JURKAT_Human0.93395265
153* NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.92803013
154YY1_21170310_ChIP-Seq_MESCs_Mouse0.92714733
155ER_23166858_ChIP-Seq_MCF-7_Human0.92582043
156BCL6_27268052_Chip-Seq_Bcells_Human0.92444895
157ASH2L_23239880_ChIP-Seq_MESCs_Mouse0.90920924
158GATA1_19941826_ChIP-Seq_K562_Human0.90496070
159KLF4_18555785_ChIP-Seq_MESCs_Mouse0.88976849
160SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.87350632
161TP63_17297297_ChIP-ChIP_HaCaT_Human0.87320358
162GATA2_21666600_ChIP-Seq_HMVEC_Human0.87166597
163FLI1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.87080915
164YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.86092604
165TCF7_22412390_ChIP-Seq_EML_Mouse0.85918545
166NANOG_21062744_ChIP-ChIP_HESCs_Human0.85681279
167EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.85299304
168GATA3_21878914_ChIP-Seq_MCF-7_Human0.84093189
169FOXP3_21729870_ChIP-Seq_TREG_Human0.84057911
170TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse0.83860150
171PRDM14_20953172_ChIP-Seq_ESCs_Human0.83407676
172VDR_23849224_ChIP-Seq_CD4+_Human0.83281591
173STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse0.83137232
174KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.82887834
175* NANOG_20526341_ChIP-Seq_ESCs_Human0.82163363
176FLI1_27457419_Chip-Seq_LIVER_Mouse0.81733394
177BCL6_25482012_ChIP-Seq_CML-JURL-MK1_Human0.81529228
178GATA2_19941826_ChIP-Seq_K562_Human0.81303817
179EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human0.79943693
180TP53_22573176_ChIP-Seq_HFKS_Human0.79789385
181NANOG_16153702_ChIP-ChIP_HESCs_Human0.79214946
182SPI1_20517297_ChIP-Seq_HL60_Human0.78017048
183EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.77421790
184TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.76029102
185PADI4_21655091_ChIP-ChIP_MCF-7_Human0.75819564
186PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.75758335
187* P300_27268052_Chip-Seq_Bcells_Human0.75418642
188BCOR_27268052_Chip-Seq_Bcells_Human0.75389342
189CNOT3_19339689_ChIP-ChIP_MESCs_Mouse0.74364536
190SOX2_16153702_ChIP-ChIP_HESCs_Human0.74363001
191ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.73753779
192THAP11_20581084_ChIP-Seq_MESCs_Mouse0.71588481
193IRF1_19129219_ChIP-ChIP_H3396_Human0.71449055
194HNF4A_19761587_ChIP-ChIP_CACO-2_Human0.70834811
195HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human0.70263081
196PRDM14_21183938_ChIP-Seq_MESCs_Mouse0.69970600
197ELK1_19687146_ChIP-ChIP_HELA_Human0.68979176
198SALL4_18804426_ChIP-ChIP_XEN_Mouse0.66906325
199DCP1A_22483619_ChIP-Seq_HELA_Human0.66805655

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003806_abnormal_nucleotide_metabolis6.16855785
2MP0003724_increased_susceptibility_to5.53440190
3MP0002139_abnormal_hepatobiliary_system4.59413041
4MP0005085_abnormal_gallbladder_physiolo4.35661151
5MP0005360_urolithiasis4.04652378
6MP0003436_decreased_susceptibility_to3.88182953
7MP0005365_abnormal_bile_salt3.81338550
8MP0001835_abnormal_antigen_presentation3.76809630
9MP0003693_abnormal_embryo_hatching3.74936286
10MP0008057_abnormal_DNA_replication3.35999386
11MP0003111_abnormal_nucleus_morphology3.16452678
12MP0003303_peritoneal_inflammation3.14217793
13* MP0002419_abnormal_innate_immunity3.11477872
14MP0010094_abnormal_chromosome_stability3.10775515
15MP0005671_abnormal_response_to3.04338494
16MP0008058_abnormal_DNA_repair2.97807757
17MP0009785_altered_susceptibility_to2.89407532
18MP0001800_abnormal_humoral_immune2.88479853
19MP0000685_abnormal_immune_system2.85135761
20MP0005025_abnormal_response_to2.77712255
21MP0001790_abnormal_immune_system2.73634540
22MP0005387_immune_system_phenotype2.73634540
23MP0004957_abnormal_blastocyst_morpholog2.63948872
24MP0005000_abnormal_immune_tolerance2.60512106
25MP0008875_abnormal_xenobiotic_pharmacok2.58475377
26MP0002723_abnormal_immune_serum2.57174519
27MP0006082_CNS_inflammation2.51371938
28* MP0002420_abnormal_adaptive_immunity2.48580097
29* MP0001819_abnormal_immune_cell2.45822073
30MP0002452_abnormal_antigen_presenting2.44600367
31MP0003077_abnormal_cell_cycle2.40045972
32MP0004264_abnormal_extraembryonic_tissu2.26807827
33MP0003252_abnormal_bile_duct2.13575816
34MP0003718_maternal_effect2.11380552
35* MP0002148_abnormal_hypersensitivity_rea2.07706659
36MP0002277_abnormal_respiratory_mucosa2.05406567
37MP0010329_abnormal_lipoprotein_level2.04370661
38MP0002405_respiratory_system_inflammati1.98810160
39MP0001533_abnormal_skeleton_physiology1.97515572
40MP0010307_abnormal_tumor_latency1.91882832
41MP0004019_abnormal_vitamin_homeostasis1.84240262
42* MP0000716_abnormal_immune_system1.77779433
43MP0009697_abnormal_copulation1.77502580
44MP0003941_abnormal_skin_development1.76943520
45MP0002398_abnormal_bone_marrow1.75430745
46MP0005464_abnormal_platelet_physiology1.73889610
47MP0003763_abnormal_thymus_physiology1.73114047
48MP0003828_pulmonary_edema1.71944633
49MP0005332_abnormal_amino_acid1.70831308
50MP0003186_abnormal_redox_activity1.70725261
51MP0001845_abnormal_inflammatory_respons1.70550155
52MP0000569_abnormal_digit_pigmentation1.70331769
53MP0004381_abnormal_hair_follicle1.68844168
54MP0003172_abnormal_lysosome_physiology1.67543379
55MP0003787_abnormal_imprinting1.65671024
56MP0008260_abnormal_autophagy1.64301667
57MP0005083_abnormal_biliary_tract1.63872800
58MP0001986_abnormal_taste_sensitivity1.63465104
59MP0003786_premature_aging1.60769859
60MP0000689_abnormal_spleen_morphology1.59061608
61MP0010352_gastrointestinal_tract_polyps1.57506132
62MP0005310_abnormal_salivary_gland1.56625676
63MP0003300_gastrointestinal_ulcer1.56200161
64MP0001764_abnormal_homeostasis1.56069110
65MP0003866_abnormal_defecation1.55881685
66MP0003705_abnormal_hypodermis_morpholog1.54768698
67MP0005647_abnormal_sex_gland1.54523807
68MP0004133_heterotaxia1.53433589
69MP0000465_gastrointestinal_hemorrhage1.52696888
70MP0009840_abnormal_foam_cell1.49957684
71MP0010155_abnormal_intestine_physiology1.47188838
72MP0002722_abnormal_immune_system1.47136636
73MP0009278_abnormal_bone_marrow1.43277932
74MP0008469_abnormal_protein_level1.41815058
75MP0003191_abnormal_cellular_cholesterol1.40347088
76MP0000609_abnormal_liver_physiology1.38308053
77MP0005266_abnormal_metabolism1.36773435
78MP0005075_abnormal_melanosome_morpholog1.36742528
79* MP0002429_abnormal_blood_cell1.36129438
80MP0009333_abnormal_splenocyte_physiolog1.35372080
81MP0004883_abnormal_blood_vessel1.34178058
82MP0003183_abnormal_peptide_metabolism1.32911172
83MP0004197_abnormal_fetal_growth/weight/1.31292500
84MP0008007_abnormal_cellular_replicative1.31275326
85MP0000350_abnormal_cell_proliferation1.28803928
86MP0000703_abnormal_thymus_morphology1.26363634
87MP0001730_embryonic_growth_arrest1.25429544
88MP0003123_paternal_imprinting1.24336066
89MP0000015_abnormal_ear_pigmentation1.21101396
90MP0001666_abnormal_nutrient_absorption1.20580687
91MP0002086_abnormal_extraembryonic_tissu1.19911731
92MP0001672_abnormal_embryogenesis/_devel1.16280877
93MP0005380_embryogenesis_phenotype1.16280877
94MP0003890_abnormal_embryonic-extraembry1.15700768
95MP0002928_abnormal_bile_duct1.15051122
96MP0004947_skin_inflammation1.14437036
97MP0003195_calcinosis1.14303752
98MP0008932_abnormal_embryonic_tissue1.13714406
99MP0005395_other_phenotype1.12595152
100MP0001293_anophthalmia1.11011256
101MP0003119_abnormal_digestive_system1.09029248
102MP0002210_abnormal_sex_determination1.08785648
103MP0003136_yellow_coat_color1.07800403
104MP0003566_abnormal_cell_adhesion1.05361089
105MP0005397_hematopoietic_system_phenotyp1.05165011
106MP0001545_abnormal_hematopoietic_system1.05165011
107MP0003011_delayed_dark_adaptation1.04147563
108MP0002084_abnormal_developmental_patter1.02246529
109MP0005084_abnormal_gallbladder_morpholo1.00690747
110MP0005023_abnormal_wound_healing1.00534840
111MP0005451_abnormal_body_composition0.99536504
112MP0002085_abnormal_embryonic_tissue0.99508508
113MP0005319_abnormal_enzyme/_coenzyme0.98974213
114MP0000427_abnormal_hair_cycle0.98584141
115MP0002118_abnormal_lipid_homeostasis0.98155684
116MP0005164_abnormal_response_to0.96962486
117MP0005376_homeostasis/metabolism_phenot0.96469477
118MP0001119_abnormal_female_reproductive0.96016895
119MP0001851_eye_inflammation0.95775319
120MP0003878_abnormal_ear_physiology0.94139212
121MP0005377_hearing/vestibular/ear_phenot0.94139212
122MP0006292_abnormal_olfactory_placode0.93834521
123MP0003075_altered_response_to0.93262135
124MP0001145_abnormal_male_reproductive0.92257530
125MP0002138_abnormal_hepatobiliary_system0.91792209
126MP0005174_abnormal_tail_pigmentation0.91364044
127MP0009765_abnormal_xenobiotic_induced0.90236511
128MP0001663_abnormal_digestive_system0.90061490
129MP0003984_embryonic_growth_retardation0.89475102
130MP0002166_altered_tumor_susceptibility0.89149603
131MP0002088_abnormal_embryonic_growth/wei0.88858908
132MP0002080_prenatal_lethality0.88392693
133MP0009763_increased_sensitivity_to0.88207591
134MP0005389_reproductive_system_phenotype0.88115702
135MP0005076_abnormal_cell_differentiation0.88086927
136MP0003690_abnormal_glial_cell0.86788356
137MP0001697_abnormal_embryo_size0.84653428
138MP0000598_abnormal_liver_morphology0.84389498
139MP0004130_abnormal_muscle_cell0.83725362
140MP0003121_genomic_imprinting0.83474867
141MP0009672_abnormal_birth_weight0.82749028
142MP0000653_abnormal_sex_gland0.82501721
143MP0000516_abnormal_urinary_system0.79786840
144MP0005367_renal/urinary_system_phenotyp0.79786840
145MP0002998_abnormal_bone_remodeling0.79425622
146MP0003868_abnormal_feces_composition0.79378057
147MP0002132_abnormal_respiratory_system0.78916888
148MP0001929_abnormal_gametogenesis0.78417891
149MP0004484_altered_response_of0.78055471
150MP0000627_abnormal_mammary_gland0.77535944
151MP0002019_abnormal_tumor_incidence0.76982922
152MP0002653_abnormal_ependyma_morphology0.76243766
153MP0005248_abnormal_Harderian_gland0.75504054
154MP0002693_abnormal_pancreas_physiology0.74716555
155MP0003699_abnormal_female_reproductive0.74146477
156MP0000313_abnormal_cell_death0.73269925
157MP0001873_stomach_inflammation0.72934615
158MP0008877_abnormal_DNA_methylation0.72687119
159MP0000858_altered_metastatic_potential0.71669024
160MP0002254_reproductive_system_inflammat0.71071023
161MP0003646_muscle_fatigue0.70980612
162MP0001286_abnormal_eye_development0.70685360
163MP0002396_abnormal_hematopoietic_system0.70109815
164MP0009053_abnormal_anal_canal0.69609835
165MP0005166_decreased_susceptibility_to0.69454258
166MP0001661_extended_life_span0.69188596
167MP0003936_abnormal_reproductive_system0.68505814
168MP0004510_myositis0.67572532
169MP0009703_decreased_birth_body0.66796002
170MP0005390_skeleton_phenotype0.66578801
171MP0002111_abnormal_tail_morphology0.65955038
172MP0003045_fibrosis0.65859141
173MP0009764_decreased_sensitivity_to0.65382992
174MP0003656_abnormal_erythrocyte_physiolo0.64662987
175MP0005670_abnormal_white_adipose0.64552645
176MP0005167_abnormal_blood-brain_barrier0.64517969
177MP0000470_abnormal_stomach_morphology0.59830879
178MP0002332_abnormal_exercise_endurance0.58603386
179MP0002102_abnormal_ear_morphology0.57979432
180MP0008004_abnormal_stomach_pH0.56829650
181MP0002006_tumorigenesis0.56447757

Predicted human phenotypes

RankGene SetZ-score
1Myositis (HP:0100614)6.35995906
2Eczematoid dermatitis (HP:0000976)6.18634062
3Orchitis (HP:0100796)6.07000917
4Recurrent bacterial skin infections (HP:0005406)6.05439002
5Recurrent abscess formation (HP:0002722)6.02380758
6Retrobulbar optic neuritis (HP:0100654)6.00490682
7Optic neuritis (HP:0100653)6.00490682
8Abnormality of the labia minora (HP:0012880)5.73727368
9Elevated erythrocyte sedimentation rate (HP:0003565)5.29467890
10Abnormality of monocarboxylic acid metabolism (HP:0010996)5.23612100
11Abnormality of macrophages (HP:0004311)4.98537678
12Abnormality of pyrimidine metabolism (HP:0004353)4.89192188
13Intrahepatic cholestasis (HP:0001406)4.86995177
14* Stomatitis (HP:0010280)4.66365320
15Birth length less than 3rd percentile (HP:0003561)4.66025542
16Chromosomal breakage induced by crosslinking agents (HP:0003221)4.42727591
17Recurrent fungal infections (HP:0002841)4.40978429
18Gastrointestinal infarctions (HP:0005244)4.29598743
19Abnormal delayed hypersensitivity skin test (HP:0002963)4.27650438
20Keratoconjunctivitis sicca (HP:0001097)4.22198125
21Hypobetalipoproteinemia (HP:0003563)4.20115899
22Keratoconjunctivitis (HP:0001096)4.12726522
23Encephalitis (HP:0002383)4.06859946
24Chromsome breakage (HP:0040012)4.06334520
25Recurrent skin infections (HP:0001581)4.05306451
26Hypochromic anemia (HP:0001931)3.87224812
27Mediastinal lymphadenopathy (HP:0100721)3.85461991
28Chronic mucocutaneous candidiasis (HP:0002728)3.83719071
29Recurrent cutaneous fungal infections (HP:0011370)3.83719071
30Chronic obstructive pulmonary disease (HP:0006510)3.72861985
31Obstructive lung disease (HP:0006536)3.72861985
32Meningitis (HP:0001287)3.69973709
33Abnormality of aromatic amino acid family metabolism (HP:0004338)3.69246456
34Breast hypoplasia (HP:0003187)3.61444187
35Prolonged partial thromboplastin time (HP:0003645)3.50791916
36Abnormality of methionine metabolism (HP:0010901)3.49015023
37Spastic diplegia (HP:0001264)3.43117471
38Hypochromic microcytic anemia (HP:0004840)3.42883211
39Hyperglycinemia (HP:0002154)3.40258232
40Deep venous thrombosis (HP:0002625)3.35646919
41Abnormality of sulfur amino acid metabolism (HP:0004339)3.34054617
42Aplasia/Hypoplasia of the uvula (HP:0010293)3.33823225
43Vasculitis (HP:0002633)3.33681419
44Abnormality of chromosome stability (HP:0003220)3.26614267
45Hemoptysis (HP:0002105)3.25673054
46Meckel diverticulum (HP:0002245)3.25384531
47Xanthomatosis (HP:0000991)3.23553113
48Abnormality of the preputium (HP:0100587)3.20609546
49Spontaneous hematomas (HP:0007420)3.18833878
50Prolonged bleeding time (HP:0003010)3.17363122
51Ependymoma (HP:0002888)3.16040366
52Gingivitis (HP:0000230)3.15767710
53Hyperglycinuria (HP:0003108)3.15475610
54Anorexia (HP:0002039)3.13603785
55Hypolipoproteinemia (HP:0010981)3.13575541
56Long foot (HP:0001833)3.08798573
57Chest pain (HP:0100749)3.07350908
58Abnormality of the ileum (HP:0001549)3.07018711
59Hyperlipoproteinemia (HP:0010980)3.05281289
60Esophageal atresia (HP:0002032)3.04949195
61Leukocytosis (HP:0001974)3.03661212
62Abnormality of T cell number (HP:0011839)3.03209786
63Abnormality of lateral ventricle (HP:0030047)3.02789936
64T lymphocytopenia (HP:0005403)2.99354560
65Pulmonary infiltrates (HP:0002113)2.98590689
66* Urticaria (HP:0001025)2.97410013
67Complement deficiency (HP:0004431)2.96484409
68Impulsivity (HP:0100710)2.96032589
69Abnormality of aspartate family amino acid metabolism (HP:0010899)2.95968137
70Abnormality of the level of lipoprotein cholesterol (HP:0010979)2.88648613
71Arterial thrombosis (HP:0004420)2.87431832
72Cortical dysplasia (HP:0002539)2.84532041
73Abnormality of T cells (HP:0002843)2.81182107
74Increased IgE level (HP:0003212)2.80515111
75Agnosia (HP:0010524)2.75322256
76Peritonitis (HP:0002586)2.72564709
77Microcytic anemia (HP:0001935)2.72502926
78Supernumerary spleens (HP:0009799)2.71667256
79* Episodic fever (HP:0001954)2.70682988
80Hypoalphalipoproteinemia (HP:0003233)2.70406659
81Pustule (HP:0200039)2.69951106
82Neoplasm of the oral cavity (HP:0100649)2.69459411
83Pulmonary embolism (HP:0002204)2.67004797
84Abnormality of nucleobase metabolism (HP:0010932)2.65800969
85Panhypogammaglobulinemia (HP:0003139)2.63454392
86Abnormality of serine family amino acid metabolism (HP:0010894)2.63304630
87Abnormality of glycine metabolism (HP:0010895)2.63304630
88Epidermoid cyst (HP:0200040)2.62780368
89Gingival bleeding (HP:0000225)2.62357779
90Hyperammonemia (HP:0001987)2.59865016
91Abnormality of T cell physiology (HP:0011840)2.51548335
92Joint hemorrhage (HP:0005261)2.50562671
93Absent radius (HP:0003974)2.49386865
94Medulloblastoma (HP:0002885)2.46303405
95Increased IgM level (HP:0003496)2.46185389
96Patellar aplasia (HP:0006443)2.45157878
97Absent thumb (HP:0009777)2.43915476
98Abnormality of the pleura (HP:0002103)2.43096562
99Gangrene (HP:0100758)2.41367078
100Abnormality of serum amino acid levels (HP:0003112)2.39593154
101Keratitis (HP:0000491)2.39081096
102Absent rod-and cone-mediated responses on ERG (HP:0007688)2.34457106
103Abnormality of DNA repair (HP:0003254)2.34285186
104Stomach cancer (HP:0012126)2.33919810
105Granulocytopenia (HP:0001913)2.33416891
106Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.30950161
107Clubbing of toes (HP:0100760)2.30303322
108Aplasia involving forearm bones (HP:0009822)2.29684490
109Absent forearm bone (HP:0003953)2.29684490
110Abnormality of glutamine family amino acid metabolism (HP:0010902)2.29291909
111Recurrent viral infections (HP:0004429)2.27921438
112Abnormality of complement system (HP:0005339)2.27453378
113Epistaxis (HP:0000421)2.27070368
114Amyloidosis (HP:0011034)2.26285092
115Breast aplasia (HP:0100783)2.25789748
116Eosinophilia (HP:0001880)2.24771013
117Fat malabsorption (HP:0002630)2.23669795
118Abnormality of the heme biosynthetic pathway (HP:0010472)2.22352252
119Inflammation of the large intestine (HP:0002037)2.20367711
120Lymphopenia (HP:0001888)2.20202949
121Small intestinal stenosis (HP:0012848)2.19760035
122Duodenal stenosis (HP:0100867)2.19760035
123Aplasia/Hypoplasia of the patella (HP:0006498)2.17037645
124Petechiae (HP:0000967)2.15895244
125Shawl scrotum (HP:0000049)2.14988148
126Abnormality of the endocardium (HP:0004306)2.14726067
127Myelodysplasia (HP:0002863)2.13835616
128Bone marrow hypocellularity (HP:0005528)2.13419598
129Rib fusion (HP:0000902)2.13159872
130Abnormal biliary tract morphology (HP:0012440)2.12645945
131Cellulitis (HP:0100658)2.11856537
132Abnormality of the clitoris (HP:0000056)2.10559639
133Clitoromegaly (HP:0000057)2.10529133
134Osteomyelitis (HP:0002754)2.08420207
135Rhabdomyosarcoma (HP:0002859)2.08383318
136Vertigo (HP:0002321)2.07847891
137Abnormality of the common coagulation pathway (HP:0010990)2.06451968
138Sepsis (HP:0100806)2.06173635
139Abnormality of eosinophils (HP:0001879)2.05568650
140Abnormality of the duodenum (HP:0002246)2.01894052
141Toxemia of pregnancy (HP:0100603)2.01320755
142Gastrointestinal atresia (HP:0002589)2.01305267
143Abnormality of cells of the lymphoid lineage (HP:0012140)2.01138395
144Increased cerebral lipofuscin (HP:0011813)2.00456217
145Abnormality of the pericardium (HP:0001697)2.00078344
146Gastrointestinal inflammation (HP:0004386)1.99119201
147Abnormality of the carotid arteries (HP:0005344)1.99103709
148Acne (HP:0001061)1.98907843
149Hemivertebrae (HP:0002937)1.98720251
150Acute hepatic failure (HP:0006554)1.97816665
151Delayed CNS myelination (HP:0002188)1.97724635
152Biliary tract neoplasm (HP:0100574)1.96282625
153Hematochezia (HP:0002573)1.95550905
154Cheilitis (HP:0100825)1.95457821
155Pseudobulbar signs (HP:0002200)1.94038011
156Aplasia/Hypoplasia of the breasts (HP:0010311)1.93737630
157Sloping forehead (HP:0000340)1.92464303
158Triphalangeal thumb (HP:0001199)1.92454408
159Chronic otitis media (HP:0000389)1.91847105
160Spontaneous abortion (HP:0005268)1.91212082
161Increased neuronal autofluorescent lipopigment (HP:0002074)1.90801475
162Abnormality of cochlea (HP:0000375)1.90335681
163Abnormal rod and cone electroretinograms (HP:0008323)1.90308198
164Abnormality of the astrocytes (HP:0100707)1.89669328
165Astrocytoma (HP:0009592)1.89669328
166Duplicated collecting system (HP:0000081)1.89668757
167Prostate neoplasm (HP:0100787)1.89191650
168Polyneuropathy (HP:0001271)1.88584961
169Abnormality of iron homeostasis (HP:0011031)1.88101759
170Limb hypertonia (HP:0002509)1.86013670
171Steatorrhea (HP:0002570)1.85678529
172Vaginal fistula (HP:0004320)1.85415906
173Oral leukoplakia (HP:0002745)1.85174414
174Hypercholesterolemia (HP:0003124)1.84880116
175Aplasia/hypoplasia of the humerus (HP:0006507)1.84677014
176Abnormality of transition element cation homeostasis (HP:0011030)1.83596656
177Recurrent gram-negative bacterial infections (HP:0005420)1.82438518
178Carpal bone hypoplasia (HP:0001498)1.81901581
179Abnormality of the peritoneum (HP:0002585)1.81256234
180Rectovaginal fistula (HP:0000143)1.81189032
181Rectal fistula (HP:0100590)1.81189032
182Abnormality of the labia (HP:0000058)1.80737413
183Upper motor neuron abnormality (HP:0002127)1.79437586
184Hypergammaglobulinemia (HP:0010702)1.78923362
185Selective tooth agenesis (HP:0001592)1.78813490
186Amaurosis fugax (HP:0100576)1.77918741
187Tetany (HP:0001281)1.77369756
188Glomerulopathy (HP:0100820)1.75726604
189IgM deficiency (HP:0002850)1.73950715
190IgG deficiency (HP:0004315)1.72553801
191Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.72386162
192Neoplasm of the tracheobronchial system (HP:0100552)1.70479282
193Recurrent pneumonia (HP:0006532)1.70253611
194Alveolar cell carcinoma (HP:0006519)1.69851919
195Increased serum ferritin (HP:0003281)1.68960876
196Constricted visual fields (HP:0001133)1.67038618
197Autoimmune thrombocytopenia (HP:0001973)1.65002506
198Progressive inability to walk (HP:0002505)1.64804726

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA27.10100164
2RIPK44.69584389
3CDK124.28658593
4TLK13.71150785
5ZAK3.46017983
6WEE13.39738402
7IRAK43.35450793
8MAP4K13.32729714
9AKT33.18002612
10BLK3.10583828
11TNK22.75182290
12FES2.54706522
13GRK62.52572240
14TXK2.43310384
15SRPK12.42699908
16FRK2.37748183
17TAOK32.24126536
18CDC72.21453915
19TSSK62.17360131
20BRD42.12402920
21STK42.05363589
22BUB12.03872299
23TTK2.03609099
24ZAP701.87316046
25ERBB41.86533684
26BTK1.81669026
27TAOK11.79201305
28EPHB11.77965735
29HCK1.77549792
30SYK1.77302905
31FGR1.75580377
32PASK1.72414046
33CDK71.67549997
34NEK21.65152686
35BCKDK1.64268738
36CHEK21.61656391
37RPS6KA41.57179970
38IKBKE1.57035464
39PLK11.56620533
40IRAK31.54846558
41JAK31.54657016
42MAP3K31.51080363
43VRK11.50486003
44MAP3K111.50055462
45DYRK31.45566476
46LYN1.44851721
47STK38L1.43947940
48ATR1.41438353
49EIF2AK31.39774699
50IRAK11.37909260
51EIF2AK21.35398681
52JAK21.34171684
53NEK11.32752870
54FLT31.30807978
55PNCK1.26602821
56CDK191.26306790
57SIK31.26266087
58PTK2B1.21979468
59TEC1.21476882
60MARK31.20933753
61LCK1.17765539
62RPS6KA51.16263444
63DAPK21.16055155
64KIT1.15299669
65AURKB1.13053860
66PLK31.13027027
67PDK21.12522844
68ITK1.12148278
69EIF2AK11.11602821
70MAP3K141.09476778
71RPS6KB21.08140635
72CSF1R1.06100597
73CDK41.05450889
74PIM11.04419989
75CHEK11.04104345
76MKNK21.03087390
77JAK11.00788899
78IKBKB0.99269611
79OXSR10.99156296
80ALK0.97616562
81ATM0.97263763
82BRAF0.96784789
83AURKA0.96515851
84MAP3K10.96252228
85PDK30.94739512
86PDK40.94739512
87STK110.94342485
88MATK0.93361510
89PRKCI0.90254319
90TBK10.89481225
91MAP2K40.88471899
92PRKD20.87476209
93LATS10.87314625
94MET0.86074305
95MAP3K80.86048259
96PDK10.85204688
97CSNK1D0.84665868
98STK380.80301444
99MARK20.79579782
100KSR20.78448267
101NLK0.78280751
102PBK0.76167592
103IRAK20.75295188
104PRKCQ0.75256551
105SIK20.74955898
106CDK20.74697169
107MAP2K60.74564781
108CAMKK20.72991849
109PINK10.72604569
110PIK3CG0.72486693
111PTK60.72461557
112YES10.71835132
113MAP3K20.71498668
114LATS20.71004318
115EPHA30.70746079
116MAP4K20.69779065
117BMPR20.69147678
118ACVR1B0.68121891
119MAP3K70.66691662
120PLK40.66431042
121CSNK2A20.64741661
122MAP3K130.64524981
123CDK30.64298917
124ADRBK10.59228617
125MAP3K60.57569827
126BRSK20.56707868
127BMPR1B0.55933897
128PDPK10.55699056
129NEK60.54266715
130CDK10.53884323
131FYN0.53097282
132MAPK130.52888033
133NUAK10.51302560
134PRKCZ0.50782037
135FGFR40.50705984
136MKNK10.50561347
137ERN10.50243670
138MAP3K50.49136677
139MAPK110.48970291
140CSNK2A10.47200441
141PAK30.46452476
142PRKDC0.46327064
143MTOR0.45935443
144KSR10.44154799
145MAPK120.42432402
146TGFBR20.42003722
147SGK20.40933660
148RPS6KA60.40619589
149WNK30.40022551
150WNK10.39324583
151MAPK70.38524203
152PRPF4B0.37968080
153ADRBK20.37959065
154FGFR30.37063223
155MAP2K30.36624924
156RAF10.36226129
157STK30.35435641
158PKN20.35135628
159DYRK20.34323437
160LRRK20.34157107
161CSNK1E0.32902290
162TYK20.32650648
163AKT20.32533812
164HIPK20.32521712
165MAPK10.32032960
166ABL10.30399711
167GRK70.29920888
168PAK10.29384482
169CAMK40.29319077
170MAPK140.28489812
171GSK3B0.28295928
172FGFR10.27705082
173CDK60.27344086
174TESK20.26329755
175ABL20.25971061
176CSK0.25502669
177STK100.23938576
178STK160.23868536
179GRK10.21699005
180AKT10.20914933
181CDK90.20261881
182MAPK100.20033029
183GSK3A0.17587249
184MELK0.17580729
185SGK30.16325843
186MAP3K90.14588144

Predicted pathways (KEGG)

RankGene SetZ-score
1One carbon pool by folate_Homo sapiens_hsa006703.29219476
2Primary bile acid biosynthesis_Homo sapiens_hsa001203.19308469
3Osteoclast differentiation_Homo sapiens_hsa043803.07523833
4Leishmaniasis_Homo sapiens_hsa051403.05100727
5Arginine biosynthesis_Homo sapiens_hsa002202.79058983
6Nitrogen metabolism_Homo sapiens_hsa009102.67253278
7Mismatch repair_Homo sapiens_hsa034302.62013350
8Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004002.60221197
9Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.58983022
10Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046502.51135233
11Systemic lupus erythematosus_Homo sapiens_hsa053222.51102262
12Graft-versus-host disease_Homo sapiens_hsa053322.41626207
13Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030082.38987099
14Primary immunodeficiency_Homo sapiens_hsa053402.32073363
15Allograft rejection_Homo sapiens_hsa053302.30904700
16NOD-like receptor signaling pathway_Homo sapiens_hsa046212.28829564
17Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002502.26185197
18Tuberculosis_Homo sapiens_hsa051522.25828220
19Pantothenate and CoA biosynthesis_Homo sapiens_hsa007702.24150918
20Autoimmune thyroid disease_Homo sapiens_hsa053202.13153819
21Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.11628729
22Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.09300971
23Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046662.06291733
24DNA replication_Homo sapiens_hsa030302.04494994
25Inflammatory bowel disease (IBD)_Homo sapiens_hsa053212.04458880
26Malaria_Homo sapiens_hsa051442.01922440
27B cell receptor signaling pathway_Homo sapiens_hsa046622.01881538
28Selenocompound metabolism_Homo sapiens_hsa004502.00803506
29Complement and coagulation cascades_Homo sapiens_hsa046101.95486970
30Type I diabetes mellitus_Homo sapiens_hsa049401.91449606
31Tryptophan metabolism_Homo sapiens_hsa003801.89027253
32Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009701.87876223
33Cysteine and methionine metabolism_Homo sapiens_hsa002701.85595666
34Toll-like receptor signaling pathway_Homo sapiens_hsa046201.85167835
35Chemokine signaling pathway_Homo sapiens_hsa040621.81674297
36Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.80055466
37Fanconi anemia pathway_Homo sapiens_hsa034601.79697260
38Hematopoietic cell lineage_Homo sapiens_hsa046401.78165561
39Measles_Homo sapiens_hsa051621.76697730
40Biosynthesis of amino acids_Homo sapiens_hsa012301.75415590
412-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.74337050
42Legionellosis_Homo sapiens_hsa051341.68847353
43T cell receptor signaling pathway_Homo sapiens_hsa046601.66611365
44Drug metabolism - other enzymes_Homo sapiens_hsa009831.66064937
45Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.63277374
46Nucleotide excision repair_Homo sapiens_hsa034201.59900581
47Homologous recombination_Homo sapiens_hsa034401.58985591
48Non-homologous end-joining_Homo sapiens_hsa034501.58910480
49NF-kappa B signaling pathway_Homo sapiens_hsa040641.56153983
50Intestinal immune network for IgA production_Homo sapiens_hsa046721.53286968
51African trypanosomiasis_Homo sapiens_hsa051431.52920694
52Antigen processing and presentation_Homo sapiens_hsa046121.49854241
53Jak-STAT signaling pathway_Homo sapiens_hsa046301.49727744
54Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.48210174
55Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.45843818
56Peroxisome_Homo sapiens_hsa041461.45512865
57Pentose and glucuronate interconversions_Homo sapiens_hsa000401.45465504
58Folate biosynthesis_Homo sapiens_hsa007901.42574866
59Fatty acid degradation_Homo sapiens_hsa000711.41009316
60Histidine metabolism_Homo sapiens_hsa003401.40671000
61Regulation of autophagy_Homo sapiens_hsa041401.40331944
62RNA transport_Homo sapiens_hsa030131.39280074
63Phagosome_Homo sapiens_hsa041451.37590951
64Staphylococcus aureus infection_Homo sapiens_hsa051501.35601582
65Phenylalanine metabolism_Homo sapiens_hsa003601.35422154
66RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.34217395
67Chemical carcinogenesis_Homo sapiens_hsa052041.33859329
68Cyanoamino acid metabolism_Homo sapiens_hsa004601.30872370
69Toxoplasmosis_Homo sapiens_hsa051451.30289532
70Steroid hormone biosynthesis_Homo sapiens_hsa001401.28900521
71Influenza A_Homo sapiens_hsa051641.27901042
72beta-Alanine metabolism_Homo sapiens_hsa004101.27506207
73Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.24101025
74Asthma_Homo sapiens_hsa053101.22940971
75Retinol metabolism_Homo sapiens_hsa008301.21688068
76Acute myeloid leukemia_Homo sapiens_hsa052211.21206894
77Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.21036892
78Lysine degradation_Homo sapiens_hsa003101.19138733
79Tyrosine metabolism_Homo sapiens_hsa003501.18349872
80Platelet activation_Homo sapiens_hsa046111.17385428
81Herpes simplex infection_Homo sapiens_hsa051681.17375549
82Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.16992902
83Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.15035234
84SNARE interactions in vesicular transport_Homo sapiens_hsa041301.14758594
85TNF signaling pathway_Homo sapiens_hsa046681.14132552
86RNA polymerase_Homo sapiens_hsa030201.13499774
87Viral myocarditis_Homo sapiens_hsa054161.11698430
88Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.11693944
89Pyrimidine metabolism_Homo sapiens_hsa002401.08849614
90Carbon metabolism_Homo sapiens_hsa012001.07882287
91Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.05701699
92Propanoate metabolism_Homo sapiens_hsa006401.04027216
93Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.03719780
94Arginine and proline metabolism_Homo sapiens_hsa003301.01899417
95Leukocyte transendothelial migration_Homo sapiens_hsa046701.01578956
96Butanoate metabolism_Homo sapiens_hsa006501.00891254
97Dorso-ventral axis formation_Homo sapiens_hsa043200.99741624
98Rheumatoid arthritis_Homo sapiens_hsa053230.99029219
99Spliceosome_Homo sapiens_hsa030400.98233810
100Vitamin B6 metabolism_Homo sapiens_hsa007500.97155650
101Cell cycle_Homo sapiens_hsa041100.96360220
102Base excision repair_Homo sapiens_hsa034100.93871102
103PPAR signaling pathway_Homo sapiens_hsa033200.93642966
104Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.90075264
105Hepatitis B_Homo sapiens_hsa051610.88247962
106alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.87721430
107Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.87088299
108Hepatitis C_Homo sapiens_hsa051600.86965631
109Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.86756364
110Carbohydrate digestion and absorption_Homo sapiens_hsa049730.86703993
111Caffeine metabolism_Homo sapiens_hsa002320.85998488
112Glutathione metabolism_Homo sapiens_hsa004800.85167944
113Pyruvate metabolism_Homo sapiens_hsa006200.84273102
114Vitamin digestion and absorption_Homo sapiens_hsa049770.82665697
115Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.80935728
116Basal transcription factors_Homo sapiens_hsa030220.80471782
117Non-small cell lung cancer_Homo sapiens_hsa052230.79712053
118Fatty acid metabolism_Homo sapiens_hsa012120.78204700
119Collecting duct acid secretion_Homo sapiens_hsa049660.77859857
120Pentose phosphate pathway_Homo sapiens_hsa000300.77747809
121Pertussis_Homo sapiens_hsa051330.77379043
122Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.74878863
123Starch and sucrose metabolism_Homo sapiens_hsa005000.74083369
124Alcoholism_Homo sapiens_hsa050340.73147356
125Shigellosis_Homo sapiens_hsa051310.70495470
126Salmonella infection_Homo sapiens_hsa051320.69089963
127p53 signaling pathway_Homo sapiens_hsa041150.68843552
128Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.68813640
129Glycerophospholipid metabolism_Homo sapiens_hsa005640.67278883
130FoxO signaling pathway_Homo sapiens_hsa040680.66898300
131Linoleic acid metabolism_Homo sapiens_hsa005910.63885297
132Prolactin signaling pathway_Homo sapiens_hsa049170.63372226
133Bile secretion_Homo sapiens_hsa049760.62965181
134Apoptosis_Homo sapiens_hsa042100.62549350
135Ether lipid metabolism_Homo sapiens_hsa005650.62504058
136mRNA surveillance pathway_Homo sapiens_hsa030150.61297422
137VEGF signaling pathway_Homo sapiens_hsa043700.60864784
138Sphingolipid signaling pathway_Homo sapiens_hsa040710.60332928
139Arachidonic acid metabolism_Homo sapiens_hsa005900.58622950
140Endocytosis_Homo sapiens_hsa041440.58286512
141Proteasome_Homo sapiens_hsa030500.58144617
142Viral carcinogenesis_Homo sapiens_hsa052030.56785889
143Lysosome_Homo sapiens_hsa041420.56566125
144Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.55658285
145Fructose and mannose metabolism_Homo sapiens_hsa000510.54093080
146ABC transporters_Homo sapiens_hsa020100.53840312
147Steroid biosynthesis_Homo sapiens_hsa001000.53073272
148Maturity onset diabetes of the young_Homo sapiens_hsa049500.52293825
149Type II diabetes mellitus_Homo sapiens_hsa049300.51673014
150RNA degradation_Homo sapiens_hsa030180.50790772
151Fat digestion and absorption_Homo sapiens_hsa049750.50751404
152Morphine addiction_Homo sapiens_hsa050320.49996008
153MAPK signaling pathway_Homo sapiens_hsa040100.49715253
154Phospholipase D signaling pathway_Homo sapiens_hsa040720.49278419
155Adipocytokine signaling pathway_Homo sapiens_hsa049200.49143619
156Phosphatidylinositol signaling system_Homo sapiens_hsa040700.47735549
157Choline metabolism in cancer_Homo sapiens_hsa052310.47453584
158Neurotrophin signaling pathway_Homo sapiens_hsa047220.47369115
159Metabolic pathways_Homo sapiens_hsa011000.47202085
160Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.47079043
161Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.46790663
162Inositol phosphate metabolism_Homo sapiens_hsa005620.46756205
163Olfactory transduction_Homo sapiens_hsa047400.46368482
164Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.46032494
165Fatty acid elongation_Homo sapiens_hsa000620.44865504
166Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.44740119
167Renal cell carcinoma_Homo sapiens_hsa052110.43940320
168Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.41980533
169GnRH signaling pathway_Homo sapiens_hsa049120.41980067
170Insulin resistance_Homo sapiens_hsa049310.41156856
171Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.40952855
172Pancreatic cancer_Homo sapiens_hsa052120.40100455
173Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.39711671
174Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.39623508
175Sulfur relay system_Homo sapiens_hsa041220.39556067
176Phototransduction_Homo sapiens_hsa047440.37559192
177Rap1 signaling pathway_Homo sapiens_hsa040150.37274326
178Purine metabolism_Homo sapiens_hsa002300.37167529
179Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.36336526
180Prion diseases_Homo sapiens_hsa050200.34853641
181HIF-1 signaling pathway_Homo sapiens_hsa040660.34640079
182Galactose metabolism_Homo sapiens_hsa000520.31331361
183Glycerolipid metabolism_Homo sapiens_hsa005610.25287051
184Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.21702661
185Ribosome_Homo sapiens_hsa030100.20703084
186Transcriptional misregulation in cancer_Homo sapiens_hsa052020.19397850
187Bladder cancer_Homo sapiens_hsa052190.16460071
188Basal cell carcinoma_Homo sapiens_hsa052170.12234516
189Sulfur metabolism_Homo sapiens_hsa009200.09310937
190Epstein-Barr virus infection_Homo sapiens_hsa051690.06567841

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