GTF2IRD2

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 is one of several closely related genes on chromosome 7 encoding proteins containing helix-loop-helix motifs. These proteins may function as regulators of transcription. The encoded protein is unique in that its C-terminus is derived from CHARLIE8 transposable element sequence. This gene is located in a region of chromosome 7 that is deleted in Williams-Beuren syndrome, and loss of this locus may contribute to the cognitive phenotypes observed in this disease. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1behavioral response to nicotine (GO:0035095)5.84916434
2positive regulation of gamma-delta T cell activation (GO:0046645)5.63382996
3antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.36306964
4modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.81728308
5positive regulation by organism of defense response of other organism involved in symbiotic interact4.81728308
6modulation by symbiont of host immune response (GO:0052553)4.81728308
7positive regulation by symbiont of host defense response (GO:0052509)4.81728308
8modulation by symbiont of host defense response (GO:0052031)4.81728308
9modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.81728308
10neutrophil activation involved in immune response (GO:0002283)4.74267474
11neutrophil mediated immunity (GO:0002446)4.62578776
12positive regulation of B cell differentiation (GO:0045579)4.59476770
13fucose catabolic process (GO:0019317)4.52399927
14L-fucose metabolic process (GO:0042354)4.52399927
15L-fucose catabolic process (GO:0042355)4.52399927
16response to peptidoglycan (GO:0032494)4.46011561
17response to muramyl dipeptide (GO:0032495)4.44581321
18macrophage activation involved in immune response (GO:0002281)4.35241938
19regulation of interleukin-12 biosynthetic process (GO:0045075)4.30080480
20indolalkylamine metabolic process (GO:0006586)4.16699191
21regulation of interferon-beta biosynthetic process (GO:0045357)4.10898180
22epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.08657806
23negative regulation of cell killing (GO:0031342)4.06269136
24negative regulation of leukocyte mediated cytotoxicity (GO:0001911)4.06269136
25tryptophan metabolic process (GO:0006568)3.99962161
26indolalkylamine catabolic process (GO:0046218)3.87266267
27tryptophan catabolic process (GO:0006569)3.87266267
28indole-containing compound catabolic process (GO:0042436)3.87266267
29NIK/NF-kappaB signaling (GO:0038061)3.82209959
30positive regulation of cellular amide metabolic process (GO:0034250)3.81559230
31regulation of B cell differentiation (GO:0045577)3.80817245
32regulation of B cell receptor signaling pathway (GO:0050855)3.78160006
33kynurenine metabolic process (GO:0070189)3.77257359
34regulation of gamma-delta T cell activation (GO:0046643)3.75450797
35positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.66266698
36respiratory burst (GO:0045730)3.65129905
37neutrophil activation (GO:0042119)3.64628655
38myeloid leukocyte mediated immunity (GO:0002444)3.62922012
39immunoglobulin mediated immune response (GO:0016064)3.60384458
40response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.57377806
41response to host immune response (GO:0052572)3.57377806
42defense response to protozoan (GO:0042832)3.55386413
43B cell homeostasis (GO:0001782)3.52980584
44epithelial cilium movement (GO:0003351)3.52220598
45germinal center formation (GO:0002467)3.51503240
46myeloid cell activation involved in immune response (GO:0002275)3.49195604
47positive regulation of interleukin-1 beta secretion (GO:0050718)3.47784642
48regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.46946602
49microglial cell activation (GO:0001774)3.46756883
50B cell receptor signaling pathway (GO:0050853)3.45258957
51antigen processing and presentation via MHC class Ib (GO:0002475)3.42189457
52response to pheromone (GO:0019236)3.40956747
53negative regulation of interleukin-17 production (GO:0032700)3.40846130
54negative regulation of interleukin-1 beta production (GO:0032691)3.40367697
55leukocyte aggregation (GO:0070486)3.39658469
56regulation of gamma-delta T cell differentiation (GO:0045586)3.38558692
57detection of other organism (GO:0098543)3.38519821
58granulocyte activation (GO:0036230)3.37892036
59axoneme assembly (GO:0035082)3.34260820
60mature B cell differentiation (GO:0002335)3.30448053
61DNA deamination (GO:0045006)3.30388498
62positive thymic T cell selection (GO:0045059)3.29270016
63response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.25757293
64response to host (GO:0075136)3.25757293
65response to host defenses (GO:0052200)3.25757293
66cellular ketone body metabolic process (GO:0046950)3.25440422
67T-helper 1 type immune response (GO:0042088)3.24616525
68mitochondrial respiratory chain complex I assembly (GO:0032981)3.20685721
69NADH dehydrogenase complex assembly (GO:0010257)3.20685721
70mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.20685721
71leukocyte mediated cytotoxicity (GO:0001909)3.18977518
72I-kappaB phosphorylation (GO:0007252)3.17861616
73positive regulation of interleukin-1 secretion (GO:0050716)3.17759509
74myeloid dendritic cell activation (GO:0001773)3.16204340
75cilium movement (GO:0003341)3.13789449
76positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)3.12850957
77cellular extravasation (GO:0045123)3.11915862
78detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.11605305
79indole-containing compound metabolic process (GO:0042430)3.11163693
80regulation of interleukin-1 beta secretion (GO:0050706)3.10857214
81neuronal action potential (GO:0019228)3.10348669
82cilium or flagellum-dependent cell motility (GO:0001539)3.10098337
83myeloid dendritic cell differentiation (GO:0043011)3.09820493
84detection of biotic stimulus (GO:0009595)3.09672272
85detection of light stimulus involved in visual perception (GO:0050908)3.06970470
86detection of light stimulus involved in sensory perception (GO:0050962)3.06970470
87interferon-gamma-mediated signaling pathway (GO:0060333)3.05812945
88response to protozoan (GO:0001562)3.04920414
89interferon-gamma production (GO:0032609)3.02469366
90regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.01599278
91lipopolysaccharide-mediated signaling pathway (GO:0031663)3.00667844
92detection of bacterium (GO:0016045)3.00394438
93protein complex biogenesis (GO:0070271)3.00146855
94positive regulation of fatty acid transport (GO:2000193)2.99117590
95developmental pigmentation (GO:0048066)2.97957107
96negative regulation of systemic arterial blood pressure (GO:0003085)2.97566157
97modulation by symbiont of host cellular process (GO:0044068)2.96512168
98negative regulation of granulocyte differentiation (GO:0030853)2.95609981
99primary amino compound metabolic process (GO:1901160)2.94689944
100regulation of interleukin-8 biosynthetic process (GO:0045414)2.94149022
101response to type I interferon (GO:0034340)2.93392816
102negative regulation of cytosolic calcium ion concentration (GO:0051481)2.92878129
103sulfation (GO:0051923)2.91858196
104negative regulation of mast cell activation (GO:0033004)2.91136097
105negative regulation of interleukin-12 production (GO:0032695)2.90976271
106regulation of action potential (GO:0098900)2.90511293
107type I interferon signaling pathway (GO:0060337)2.89096018
108cellular response to type I interferon (GO:0071357)2.89096018
109ketone body metabolic process (GO:1902224)2.88597640
110pyrimidine nucleobase catabolic process (GO:0006208)2.87945227
111negative regulation of telomere maintenance (GO:0032205)2.85812710
112nonmotile primary cilium assembly (GO:0035058)2.85353593
113superoxide anion generation (GO:0042554)2.84773523
114positive regulation of mast cell degranulation (GO:0043306)2.84773212
115positive regulation of mast cell activation involved in immune response (GO:0033008)2.84773212
116serotonin metabolic process (GO:0042428)2.81918082
117macrophage activation (GO:0042116)2.81223197
118neural tube formation (GO:0001841)2.80901803
119regulation of syncytium formation by plasma membrane fusion (GO:0060142)2.80844188
120positive regulation of interleukin-1 beta production (GO:0032731)2.80570896
121positive regulation of antigen processing and presentation (GO:0002579)2.80565821
122cytokine secretion (GO:0050663)2.80458656
123regulation of mast cell degranulation (GO:0043304)2.79474267
124positive regulation of heat generation (GO:0031652)2.78811931
125positive regulation of mast cell activation (GO:0033005)2.78337872
126protein import into peroxisome matrix (GO:0016558)2.75991742
127protein polyglutamylation (GO:0018095)2.75283844
128behavioral response to ethanol (GO:0048149)2.75005127
129cornea development in camera-type eye (GO:0061303)2.74270009
130cellular biogenic amine catabolic process (GO:0042402)2.73375224
131amine catabolic process (GO:0009310)2.73375224
132positive regulation of interleukin-12 production (GO:0032735)2.73013676
133negative regulation of synaptic transmission, GABAergic (GO:0032229)2.71723814
134platelet dense granule organization (GO:0060155)2.71213437
135lymphocyte homeostasis (GO:0002260)2.71021032
136natural killer cell mediated cytotoxicity (GO:0042267)2.70903993
137natural killer cell mediated immunity (GO:0002228)2.70903993
138histone H3-K4 trimethylation (GO:0080182)2.70694177
139cilium organization (GO:0044782)2.70651460
140membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.70602267
141gamma-aminobutyric acid transport (GO:0015812)2.70220448
142water-soluble vitamin biosynthetic process (GO:0042364)2.69762751
143protein localization to cilium (GO:0061512)2.69268947
144positive regulation of sodium ion transmembrane transporter activity (GO:2000651)2.69131358
145adaptive immune response based on somatic recombination of immune receptors built from immunoglobuli2.68591249
146synaptic transmission, cholinergic (GO:0007271)2.68066979
147cytidine deamination (GO:0009972)2.67939076
148cytidine metabolic process (GO:0046087)2.67939076
149cytidine catabolic process (GO:0006216)2.67939076
150preassembly of GPI anchor in ER membrane (GO:0016254)2.67614882
151mitochondrial respiratory chain complex assembly (GO:0033108)2.67505897
152cilium morphogenesis (GO:0060271)2.66512983
153positive regulation of prostaglandin secretion (GO:0032308)2.66127513
154positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)2.66127410
155positive regulation of humoral immune response (GO:0002922)2.65316885
156regulation of hippo signaling (GO:0035330)2.65040958
157positive regulation of interferon-alpha production (GO:0032727)2.64755411
158myeloid leukocyte activation (GO:0002274)2.64559667
159regulation of interleukin-1 secretion (GO:0050704)2.64324098
160positive regulation of icosanoid secretion (GO:0032305)2.64056806
161negative regulation of multicellular organism growth (GO:0040015)2.63767214
162regulation of mast cell activation involved in immune response (GO:0033006)2.63306032
163T cell homeostasis (GO:0043029)2.62892232
164nephron epithelium morphogenesis (GO:0072088)2.62782799
165nephron tubule morphogenesis (GO:0072078)2.62782799
166cilium assembly (GO:0042384)2.62385487
167fucosylation (GO:0036065)2.60332913
168positive regulation of interleukin-1 production (GO:0032732)2.60316318
169regulation of necroptotic process (GO:0060544)2.59381210
170mast cell activation (GO:0045576)2.59352576
171positive regulation of sodium ion transmembrane transport (GO:1902307)2.58361918
172regulation of cilium movement (GO:0003352)2.56042673
173nucleobase catabolic process (GO:0046113)2.54622850
174kidney morphogenesis (GO:0060993)2.53591725
175auditory receptor cell stereocilium organization (GO:0060088)2.52157169
176phosphatidylinositol acyl-chain remodeling (GO:0036149)2.51771169
177reflex (GO:0060004)2.51389338
178positive regulation of fatty acid oxidation (GO:0046321)2.50772222
179piRNA metabolic process (GO:0034587)2.50408148
180regulation of neurotransmitter uptake (GO:0051580)2.50164221
181respiratory chain complex IV assembly (GO:0008535)2.46386839
182axonemal dynein complex assembly (GO:0070286)2.45847024
183cAMP catabolic process (GO:0006198)2.45635195
184NAD biosynthetic process (GO:0009435)2.45360427
185somite development (GO:0061053)2.44917783
186pyrimidine ribonucleoside catabolic process (GO:0046133)2.43621873
187benzene-containing compound metabolic process (GO:0042537)2.42574434
188positive regulation of digestive system process (GO:0060456)2.42573727
189oxidative demethylation (GO:0070989)2.42457955
190DNA demethylation (GO:0080111)2.42293690
191protein-cofactor linkage (GO:0018065)2.40416774
192photoreceptor cell maintenance (GO:0045494)2.39694562
193negative regulation of transcription regulatory region DNA binding (GO:2000678)2.38842142
194ubiquinone biosynthetic process (GO:0006744)2.38763860
195drug catabolic process (GO:0042737)2.37836873
196inner ear receptor stereocilium organization (GO:0060122)2.36233048
197neurotransmitter metabolic process (GO:0042133)2.36171541
198membrane depolarization during action potential (GO:0086010)2.35456749
199mannosylation (GO:0097502)2.34687888
200exogenous drug catabolic process (GO:0042738)2.33494132

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1BP1_19119308_ChIP-ChIP_Hs578T_Human5.05369161
2IRF8_22096565_ChIP-ChIP_GC-B_Human4.95785178
3IRF8_21731497_ChIP-ChIP_J774_Mouse4.60565207
4ZNF274_21170338_ChIP-Seq_K562_Hela3.94367329
5STAT6_20620947_ChIP-Seq_CD4_POS_T_Human3.66351369
6SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.65495622
7SCL_19346495_ChIP-Seq_HPC-7_Human3.55180606
8MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.44928562
9IRF8_27001747_Chip-Seq_BMDM_Mouse3.41153853
10IRF8_22096565_ChIP-ChIP_GC-B_Mouse3.31673269
11VDR_22108803_ChIP-Seq_LS180_Human3.16240131
12Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.94365246
13GBX2_23144817_ChIP-Seq_PC3_Human2.85189928
14MYB_21317192_ChIP-Seq_ERMYB_Mouse2.82043049
15FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse2.81383206
16FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.78751275
17NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.77365874
18GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.66268114
19STAT3_20064451_ChIP-Seq_CD4+T_Mouse2.47878889
20* RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.41813319
21IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.38608847
22SPI1_23127762_ChIP-Seq_K562_Human2.38519888
23VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human2.29846632
24ZFP57_27257070_Chip-Seq_ESCs_Mouse2.27491848
25SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.20520649
26VDR_24763502_ChIP-Seq_THP-1_Human2.15760298
27* FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.07633507
28CTBP2_25329375_ChIP-Seq_LNCAP_Human2.05637810
29IKZF1_21737484_ChIP-ChIP_HCT116_Human2.05315475
30VDR_21846776_ChIP-Seq_THP-1_Human1.94947946
31RUNX_20019798_ChIP-Seq_JUKART_Human1.93062231
32BRD4_27068464_Chip-Seq_AML-cells_Mouse1.88599607
33STAT4_19710469_ChIP-ChIP_TH1__Mouse1.88077431
34ER_23166858_ChIP-Seq_MCF-7_Human1.87591003
35SPI1_23547873_ChIP-Seq_NB4_Human1.85852538
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.85088444
37MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.83903177
38POU3F2_20337985_ChIP-ChIP_501MEL_Human1.80975695
39PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.79905707
40HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.78990332
41* RUNX1_22412390_ChIP-Seq_EML_Mouse1.75003005
42PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.73222338
43* LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.73117777
44FLI1_27457419_Chip-Seq_LIVER_Mouse1.72801322
45MYB_26560356_Chip-Seq_TH2_Human1.70051855
46CBX2_27304074_Chip-Seq_ESCs_Mouse1.68408229
47PU_27001747_Chip-Seq_BMDM_Mouse1.68213999
48EGR1_19374776_ChIP-ChIP_THP-1_Human1.67695250
49VDR_24787735_ChIP-Seq_THP-1_Human1.67358964
50EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.66576676
51P300_19829295_ChIP-Seq_ESCs_Human1.65148917
52* LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.64409605
53FUS_26573619_Chip-Seq_HEK293_Human1.63983375
54TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.62874698
55RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.61713972
56* TCF7_22412390_ChIP-Seq_EML_Mouse1.58731602
57EWS_26573619_Chip-Seq_HEK293_Human1.58148834
58TAF15_26573619_Chip-Seq_HEK293_Human1.57519179
59IRF1_19129219_ChIP-ChIP_H3396_Human1.56758884
60STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.55509144
61HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.53977439
62E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.53495799
63TP53_22573176_ChIP-Seq_HFKS_Human1.50689709
64RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.48712169
65BCAT_22108803_ChIP-Seq_LS180_Human1.47960862
66BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.47587461
67GATA2_21666600_ChIP-Seq_HMVEC_Human1.46023079
68BMI1_23680149_ChIP-Seq_NPCS_Mouse1.45432818
69PIAS1_25552417_ChIP-Seq_VCAP_Human1.45373806
70POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.45001942
71TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.45001942
72AR_21572438_ChIP-Seq_LNCaP_Human1.44757866
73PCGF2_27294783_Chip-Seq_ESCs_Mouse1.43280501
74MAF_26560356_Chip-Seq_TH1_Human1.42962721
75MYB_26560356_Chip-Seq_TH1_Human1.42424733
76STAT3_23295773_ChIP-Seq_U87_Human1.42054817
77AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.41755317
78CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.41500779
79AR_25329375_ChIP-Seq_VCAP_Human1.41010934
80UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.35511233
81CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.35241557
82MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.34528283
83SMAD4_21799915_ChIP-Seq_A2780_Human1.34177183
84NR3C1_21868756_ChIP-Seq_MCF10A_Human1.33096495
85GATA1_19941827_ChIP-Seq_MEL_Mouse1.32099797
86TCF4_23295773_ChIP-Seq_U87_Human1.31056312
87SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.30891979
88NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.29075191
89EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.28757177
90KDM2B_26808549_Chip-Seq_SUP-B15_Human1.27560401
91ETV2_25802403_ChIP-Seq_MESCs_Mouse1.26629145
92UTX_26944678_Chip-Seq_JUKART_Human1.26536838
93GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.26222364
94SMAD_19615063_ChIP-ChIP_OVARY_Human1.26113681
95DROSHA_22980978_ChIP-Seq_HELA_Human1.25497886
96NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.25134624
97GATA3_21878914_ChIP-Seq_MCF-7_Human1.22914199
98SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.22289161
99SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.21776656
100FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.21722152
101IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.21655236
102CBP_20019798_ChIP-Seq_JUKART_Human1.21655236
103EZH2_27294783_Chip-Seq_ESCs_Mouse1.21485682
104JARID2_20064375_ChIP-Seq_MESCs_Mouse1.20839561
105EZH2_22144423_ChIP-Seq_EOC_Human1.20322766
106FOXA1_27270436_Chip-Seq_PROSTATE_Human1.20216177
107FOXA1_25329375_ChIP-Seq_VCAP_Human1.20216177
108* GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.19909744
109NANOG_19829295_ChIP-Seq_ESCs_Human1.19328290
110SOX2_19829295_ChIP-Seq_ESCs_Human1.19328290
111EED_16625203_ChIP-ChIP_MESCs_Mouse1.18901253
112MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.18192384
113EGR1_23403033_ChIP-Seq_LIVER_Mouse1.18014170
114NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.17933485
115EZH2_27304074_Chip-Seq_ESCs_Mouse1.17852585
116TOP2B_26459242_ChIP-Seq_MCF-7_Human1.17043419
117JARID2_20075857_ChIP-Seq_MESCs_Mouse1.15194569
118TP53_16413492_ChIP-PET_HCT116_Human1.13842335
119TCF4_22108803_ChIP-Seq_LS180_Human1.12753154
120RUNX2_22187159_ChIP-Seq_PCA_Human1.11776818
121GATA3_26560356_Chip-Seq_TH2_Human1.11325602
122SUZ12_27294783_Chip-Seq_ESCs_Mouse1.10994293
123NOTCH1_21737748_ChIP-Seq_TLL_Human1.10692475
124THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.10391092
125HOXB7_26014856_ChIP-Seq_BT474_Human1.10020711
126REST_18959480_ChIP-ChIP_MESCs_Mouse1.09834440
127SMAD3_21741376_ChIP-Seq_EPCs_Human1.09678320
128ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.09252275
129GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.08964353
130IGF1R_20145208_ChIP-Seq_DFB_Human1.08692281
131NCOR_22424771_ChIP-Seq_293T_Human1.08383516
132PRDM14_20953172_ChIP-Seq_ESCs_Human1.07929780
133CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.07087573
134CDX2_19796622_ChIP-Seq_MESCs_Mouse1.07037905
135* RNF2_27304074_Chip-Seq_NSC_Mouse1.06646169
136GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.06635824
137GATA2_22383799_ChIP-Seq_G1ME_Mouse1.05656483
138SUZ12_27294783_Chip-Seq_NPCs_Mouse1.05580996
139MYC_18940864_ChIP-ChIP_HL60_Human1.05360779
140SMAD4_21741376_ChIP-Seq_EPCs_Human1.05280756
141AR_20517297_ChIP-Seq_VCAP_Human1.05038160
142FOXA1_21572438_ChIP-Seq_LNCaP_Human1.04225709
143KLF5_20875108_ChIP-Seq_MESCs_Mouse1.03726622
144FLI1_21867929_ChIP-Seq_TH2_Mouse1.02912748
145MYC_22102868_ChIP-Seq_BL_Human1.02444226
146ERA_21632823_ChIP-Seq_H3396_Human1.02383301
147TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.02073401
148ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.01799246
149MYC_19829295_ChIP-Seq_ESCs_Human1.01712155
150SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.01659464
151GATA3_27048872_Chip-Seq_THYMUS_Human1.01633395
152PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.01196174
153NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.00940205
154TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.00641683
155PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.00520061
156PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.00192737
157NFE2_27457419_Chip-Seq_LIVER_Mouse0.99744167
158CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons0.98355897
159CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.98177475
160BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.97226200
161KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.96822850
162CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.96751593
163SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.96152265
164SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.95912751
165CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.94156407
166KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.93984507
167RNF2_27304074_Chip-Seq_ESCs_Mouse0.93616050
168SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.92995295
169PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.92941522
170GATA1_22383799_ChIP-Seq_G1ME_Mouse0.89856371
171KDM2B_26808549_Chip-Seq_DND41_Human0.89460255
172GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.85718529
173GATA2_19941826_ChIP-Seq_K562_Human0.82474715
174RUNX1_17652178_ChIP-ChIP_JURKAT_Human0.78551088
175* SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.77847896
176MAF_26560356_Chip-Seq_TH2_Human0.77619591
177ETS1_22383799_ChIP-Seq_G1ME_Mouse0.76151117
178EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.72612444
179SMRT_27268052_Chip-Seq_Bcells_Human0.71322900
180SOX11_23321250_ChIP-ChIP_Z138-A519-JVM2_Human0.70587467
181NFIB_24661679_ChIP-Seq_LUNG_Mouse0.70088525
182SPI1_20517297_ChIP-Seq_HL60_Human0.68872510
183RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.68676228
184REST_21632747_ChIP-Seq_MESCs_Mouse0.65487494
185TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.65044070
186KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.64590390
187PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.63610069
188PCGF2_27294783_Chip-Seq_NPCs_Mouse0.62957509
189GATA1_19941826_ChIP-Seq_K562_Human0.61456695
190SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.61249706

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation5.69381148
2MP0001835_abnormal_antigen_presentation4.08907154
3MP0005174_abnormal_tail_pigmentation3.44613282
4MP0003303_peritoneal_inflammation2.95097871
5MP0005387_immune_system_phenotype2.93821945
6MP0001790_abnormal_immune_system2.93821945
7MP0009278_abnormal_bone_marrow2.88487113
8MP0009785_altered_susceptibility_to2.86999736
9MP0002419_abnormal_innate_immunity2.84556153
10MP0000685_abnormal_immune_system2.79922489
11MP0003436_decreased_susceptibility_to2.75670918
12MP0003172_abnormal_lysosome_physiology2.73930863
13MP0001800_abnormal_humoral_immune2.72545523
14MP0003183_abnormal_peptide_metabolism2.68237963
15MP0005025_abnormal_response_to2.66173774
16MP0005671_abnormal_response_to2.57639276
17MP0005000_abnormal_immune_tolerance2.55828796
18MP0003646_muscle_fatigue2.55789946
19MP0002452_abnormal_antigen_presenting2.54999354
20MP0003195_calcinosis2.54818997
21MP0002148_abnormal_hypersensitivity_rea2.50455053
22MP0002723_abnormal_immune_serum2.49133142
23MP0004043_abnormal_pH_regulation2.42958462
24MP0008872_abnormal_physiological_respon2.38996736
25MP0005551_abnormal_eye_electrophysiolog2.31898162
26MP0004510_myositis2.27063785
27MP0001819_abnormal_immune_cell2.26096989
28MP0002420_abnormal_adaptive_immunity2.25226640
29MP0005464_abnormal_platelet_physiology2.24905508
30MP0002876_abnormal_thyroid_physiology2.14087733
31MP0003787_abnormal_imprinting2.12065161
32MP0002653_abnormal_ependyma_morphology2.10248346
33MP0002166_altered_tumor_susceptibility2.07363259
34MP0008877_abnormal_DNA_methylation2.06447030
35MP0003724_increased_susceptibility_to2.02234410
36MP0000015_abnormal_ear_pigmentation1.99850536
37MP0005397_hematopoietic_system_phenotyp1.96582152
38MP0001545_abnormal_hematopoietic_system1.96582152
39MP0004133_heterotaxia1.92373672
40MP0008875_abnormal_xenobiotic_pharmacok1.89927894
41MP0000372_irregular_coat_pigmentation1.88140023
42MP0009745_abnormal_behavioral_response1.87216255
43MP0002638_abnormal_pupillary_reflex1.86109031
44MP0004947_skin_inflammation1.83891338
45MP0002837_dystrophic_cardiac_calcinosis1.83768588
46MP0004145_abnormal_muscle_electrophysio1.79494602
47MP0001873_stomach_inflammation1.79435315
48MP0006292_abnormal_olfactory_placode1.76900913
49MP0005058_abnormal_lysosome_morphology1.76636223
50MP0002102_abnormal_ear_morphology1.76521847
51MP0002398_abnormal_bone_marrow1.76379378
52MP0002006_tumorigenesis1.76085995
53MP0004885_abnormal_endolymph1.74136873
54MP0006276_abnormal_autonomic_nervous1.73685115
55MP0002405_respiratory_system_inflammati1.71734733
56MP0002272_abnormal_nervous_system1.71411812
57MP0001501_abnormal_sleep_pattern1.70973275
58MP0005646_abnormal_pituitary_gland1.70859851
59MP0000716_abnormal_immune_system1.68528106
60MP0003136_yellow_coat_color1.68515895
61MP0010155_abnormal_intestine_physiology1.61298035
62MP0003011_delayed_dark_adaptation1.61148398
63MP0002396_abnormal_hematopoietic_system1.60982222
64MP0001845_abnormal_inflammatory_respons1.58460773
65MP0001485_abnormal_pinna_reflex1.55894299
66MP0004147_increased_porphyrin_level1.55809819
67MP0002138_abnormal_hepatobiliary_system1.55099156
68MP0006072_abnormal_retinal_apoptosis1.54827244
69MP0000631_abnormal_neuroendocrine_gland1.50706523
70MP0006082_CNS_inflammation1.50611242
71MP0005253_abnormal_eye_physiology1.48586492
72MP0003880_abnormal_central_pattern1.47887268
73MP0000427_abnormal_hair_cycle1.47219365
74MP0000689_abnormal_spleen_morphology1.46161459
75MP0001853_heart_inflammation1.43963015
76MP0001486_abnormal_startle_reflex1.43887575
77MP0003763_abnormal_thymus_physiology1.42736215
78MP0003300_gastrointestinal_ulcer1.41919680
79MP0002572_abnormal_emotion/affect_behav1.40158124
80MP0002064_seizures1.38355713
81MP0005171_absent_coat_pigmentation1.37591724
82MP0003866_abnormal_defecation1.36621976
83MP0002557_abnormal_social/conspecific_i1.36543876
84MP0002722_abnormal_immune_system1.34939328
85MP0002429_abnormal_blood_cell1.30459339
86MP0005083_abnormal_biliary_tract1.29465032
87MP0001984_abnormal_olfaction1.28363636
88MP0001502_abnormal_circadian_rhythm1.28245879
89MP0001970_abnormal_pain_threshold1.27344611
90MP0005084_abnormal_gallbladder_morpholo1.25285365
91MP0001986_abnormal_taste_sensitivity1.24520412
92MP0004130_abnormal_muscle_cell1.24256811
93MP0000465_gastrointestinal_hemorrhage1.23462424
94MP0008469_abnormal_protein_level1.22818056
95MP0010386_abnormal_urinary_bladder1.22526828
96MP0005075_abnormal_melanosome_morpholog1.22196897
97MP0002733_abnormal_thermal_nociception1.20763436
98MP0002067_abnormal_sensory_capabilities1.20622645
99MP0008260_abnormal_autophagy1.17668286
100MP0005310_abnormal_salivary_gland1.17141607
101MP0002938_white_spotting1.17091284
102MP0001905_abnormal_dopamine_level1.14686749
103MP0002163_abnormal_gland_morphology1.13662991
104MP0001533_abnormal_skeleton_physiology1.13232220
105MP0002063_abnormal_learning/memory/cond1.13190000
106MP0000371_diluted_coat_color1.12884042
107MP0003878_abnormal_ear_physiology1.12516902
108MP0005377_hearing/vestibular/ear_phenot1.12516902
109MP0005386_behavior/neurological_phenoty1.12417096
110MP0004924_abnormal_behavior1.12417096
111MP0003635_abnormal_synaptic_transmissio1.12412353
112MP0002254_reproductive_system_inflammat1.09857433
113MP0000383_abnormal_hair_follicle1.09141089
114MP0000703_abnormal_thymus_morphology1.08932772
115MP0003252_abnormal_bile_duct1.08029366
116MP0002822_catalepsy1.07133002
117MP0003191_abnormal_cellular_cholesterol1.05319302
118MP0004808_abnormal_hematopoietic_stem1.02983044
119MP0002095_abnormal_skin_pigmentation1.01335539
120MP0005195_abnormal_posterior_eye1.00913079
121MP0009764_decreased_sensitivity_to1.00367423
122MP0009333_abnormal_splenocyte_physiolog1.00290142
123MP0000230_abnormal_systemic_arterial1.00209684
124MP0001851_eye_inflammation0.99843574
125MP0004381_abnormal_hair_follicle0.99375917
126MP0000026_abnormal_inner_ear0.98943759
127MP0005389_reproductive_system_phenotype0.96200737
128MP0002998_abnormal_bone_remodeling0.96183252
129MP0003448_altered_tumor_morphology0.95782050
130MP0008961_abnormal_basal_metabolism0.95635097
131MP0002752_abnormal_somatic_nervous0.93817413
132MP0001529_abnormal_vocalization0.93634751
133MP0000778_abnormal_nervous_system0.92252012
134MP0002928_abnormal_bile_duct0.92000222
135MP0002160_abnormal_reproductive_system0.91057607
136MP0000538_abnormal_urinary_bladder0.89871069
137MP0000858_altered_metastatic_potential0.88338253
138MP0005379_endocrine/exocrine_gland_phen0.88216605
139MP0004859_abnormal_synaptic_plasticity0.87595269
140MP0002933_joint_inflammation0.87177331
141MP0002909_abnormal_adrenal_gland0.87022090
142MP0003075_altered_response_to0.86942211
143MP0005167_abnormal_blood-brain_barrier0.86193270
144MP0001919_abnormal_reproductive_system0.85735406
145MP0002734_abnormal_mechanical_nocicepti0.85282767
146MP0008995_early_reproductive_senescence0.85094338
147MP0003137_abnormal_impulse_conducting0.84345448
148MP0010329_abnormal_lipoprotein_level0.82440943
149MP0001963_abnormal_hearing_physiology0.81708304
150MP0002184_abnormal_innervation0.81636531
151MP0001664_abnormal_digestion0.79268311
152MP0002277_abnormal_respiratory_mucosa0.79266701
153MP0002229_neurodegeneration0.78660974
154MP0005085_abnormal_gallbladder_physiolo0.78335478
155MP0001324_abnormal_eye_pigmentation0.76750225
156MP0000604_amyloidosis0.76747534
157MP0009763_increased_sensitivity_to0.76560488
158MP0004215_abnormal_myocardial_fiber0.76357464
159MP0009046_muscle_twitch0.74853981
160MP0002009_preneoplasia0.74262413
161MP0002735_abnormal_chemical_nociception0.73790506
162MP0001968_abnormal_touch/_nociception0.72926055
163MP0002693_abnormal_pancreas_physiology0.71409718
164MP0002736_abnormal_nociception_after0.70665003
165MP0005257_abnormal_intraocular_pressure0.70287244
166MP0001188_hyperpigmentation0.70264108
167MP0001663_abnormal_digestive_system0.69632936
168MP0005423_abnormal_somatic_nervous0.68547815
169MP0005409_darkened_coat_color0.68003200
170MP0003828_pulmonary_edema0.67767213
171MP0005645_abnormal_hypothalamus_physiol0.65928589
172MP0002075_abnormal_coat/hair_pigmentati0.64987173
173MP0000490_abnormal_crypts_of0.59537694
174MP0005166_decreased_susceptibility_to0.58670588
175MP0001958_emphysema0.53963150
176MP0000343_altered_response_to0.51767821
177MP0003656_abnormal_erythrocyte_physiolo0.50486994
178MP0004142_abnormal_muscle_tone0.50142852
179MP0004742_abnormal_vestibular_system0.50008364
180MP0008874_decreased_physiological_sensi0.49702310
181MP0005076_abnormal_cell_differentiation0.48081070
182MP0001186_pigmentation_phenotype0.47708460
183MP0003566_abnormal_cell_adhesion0.46353653
184MP0000249_abnormal_blood_vessel0.45544112

Predicted human phenotypes

RankGene SetZ-score
1Recurrent abscess formation (HP:0002722)6.85093885
2Recurrent bacterial skin infections (HP:0005406)6.66645766
3Elevated erythrocyte sedimentation rate (HP:0003565)5.84883856
4Eczematoid dermatitis (HP:0000976)5.57336368
5Stomatitis (HP:0010280)5.17146237
6Pancreatic cysts (HP:0001737)4.84411676
7Chronic mucocutaneous candidiasis (HP:0002728)4.76872462
8Recurrent cutaneous fungal infections (HP:0011370)4.76872462
9Recurrent skin infections (HP:0001581)4.73498678
10Recurrent fungal infections (HP:0002841)4.67343701
11Mediastinal lymphadenopathy (HP:0100721)4.56789184
12Recurrent gram-negative bacterial infections (HP:0005420)4.53047682
13Molar tooth sign on MRI (HP:0002419)4.47181148
14Abnormality of midbrain morphology (HP:0002418)4.47181148
15Pancreatic fibrosis (HP:0100732)4.36687897
16Myositis (HP:0100614)4.31581833
17True hermaphroditism (HP:0010459)4.15823911
18Nephronophthisis (HP:0000090)4.13863359
19Type II lissencephaly (HP:0007260)3.99387789
20Panhypogammaglobulinemia (HP:0003139)3.93276442
21Congenital stationary night blindness (HP:0007642)3.91802726
22Abnormal delayed hypersensitivity skin test (HP:0002963)3.90713859
23Gingivitis (HP:0000230)3.90131257
24Recurrent viral infections (HP:0004429)3.77769147
25Colitis (HP:0002583)3.75563964
26Retrobulbar optic neuritis (HP:0100654)3.70872945
27Optic neuritis (HP:0100653)3.70872945
28Abnormality of macrophages (HP:0004311)3.65521810
29Abnormality of the renal cortex (HP:0011035)3.64726538
30Abnormality of the renal medulla (HP:0100957)3.61556494
31Hyperventilation (HP:0002883)3.54182625
32Vasculitis (HP:0002633)3.50234107
33Orchitis (HP:0100796)3.36522303
34Meningitis (HP:0001287)3.34723600
35Tubular atrophy (HP:0000092)3.30345754
36Inflammation of the large intestine (HP:0002037)3.25634065
37Cystic liver disease (HP:0006706)3.21179723
38Periodontitis (HP:0000704)3.20796316
39Prostate neoplasm (HP:0100787)3.13084514
40Dynein arm defect of respiratory motile cilia (HP:0012255)3.12133865
41Absent/shortened dynein arms (HP:0200106)3.12133865
42Chronic obstructive pulmonary disease (HP:0006510)3.08000737
43Obstructive lung disease (HP:0006536)3.08000737
44Medial flaring of the eyebrow (HP:0010747)3.07298220
45Agammaglobulinemia (HP:0004432)3.04005310
46Abolished electroretinogram (ERG) (HP:0000550)3.01114155
47Abnormal drinking behavior (HP:0030082)3.00614437
48Polydipsia (HP:0001959)3.00614437
49Chronic hepatic failure (HP:0100626)3.00420452
50Gastrointestinal inflammation (HP:0004386)2.99127266
51Cerebellar dysplasia (HP:0007033)2.91038510
52Amyloidosis (HP:0011034)2.81436855
53Vacuolated lymphocytes (HP:0001922)2.81328768
54Leukocytosis (HP:0001974)2.78071919
55Cellulitis (HP:0100658)2.76448169
56Genetic anticipation (HP:0003743)2.76335724
57Attenuation of retinal blood vessels (HP:0007843)2.74301431
58Pustule (HP:0200039)2.69388493
59Abnormal respiratory epithelium morphology (HP:0012253)2.69229286
60Abnormal respiratory motile cilium morphology (HP:0005938)2.69229286
61Hemoptysis (HP:0002105)2.65174234
62Progressive cerebellar ataxia (HP:0002073)2.64332116
63Pendular nystagmus (HP:0012043)2.63252074
64Prolonged bleeding time (HP:0003010)2.62323240
65Inability to walk (HP:0002540)2.60669651
66Gastrointestinal stroma tumor (HP:0100723)2.59157769
67Lissencephaly (HP:0001339)2.55152866
68Hypothermia (HP:0002045)2.55082544
69Decreased circulating renin level (HP:0003351)2.54525476
70Large for gestational age (HP:0001520)2.53061202
71Abnormality of alanine metabolism (HP:0010916)2.52610949
72Hyperalaninemia (HP:0003348)2.52610949
73Abnormality of pyruvate family amino acid metabolism (HP:0010915)2.52610949
74Abnormal ciliary motility (HP:0012262)2.51016228
75Abnormal rod and cone electroretinograms (HP:0008323)2.50269486
76Thyroiditis (HP:0100646)2.44818340
77Concave nail (HP:0001598)2.44746637
78Abnormality of the prostate (HP:0008775)2.44030941
79Congenital hepatic fibrosis (HP:0002612)2.43825858
80Renal cortical cysts (HP:0000803)2.39340180
81Arterial thrombosis (HP:0004420)2.39169544
82Keratoconus (HP:0000563)2.39007235
83Increased corneal curvature (HP:0100692)2.39007235
84Gait imbalance (HP:0002141)2.38105495
85Thrombocytosis (HP:0001894)2.37899087
86Pulmonary infiltrates (HP:0002113)2.37365599
87Epistaxis (HP:0000421)2.37333003
88Polyuria (HP:0000103)2.35975206
89Recurrent pneumonia (HP:0006532)2.35581214
90Broad-based gait (HP:0002136)2.34965788
91Eosinophilia (HP:0001880)2.34172879
92Sclerocornea (HP:0000647)2.34099195
93Premature loss of primary teeth (HP:0006323)2.33109016
94Restrictive lung disease (HP:0002091)2.31914436
953-Methylglutaconic aciduria (HP:0003535)2.31323451
96Gaze-evoked nystagmus (HP:0000640)2.30698609
97Hematochezia (HP:0002573)2.30591239
98Abnormality of the pons (HP:0007361)2.27952906
99Osteomyelitis (HP:0002754)2.27464929
100Absent rod-and cone-mediated responses on ERG (HP:0007688)2.26502932
101Anencephaly (HP:0002323)2.25964724
102Hypoplasia of the pons (HP:0012110)2.25714294
103Urticaria (HP:0001025)2.24346748
104Increased cerebral lipofuscin (HP:0011813)2.23531443
105Increased neuronal autofluorescent lipopigment (HP:0002074)2.23339687
106Thoracic kyphosis (HP:0002942)2.22540946
107IgM deficiency (HP:0002850)2.21892759
108Autoimmune thrombocytopenia (HP:0001973)2.21167619
109Congenital primary aphakia (HP:0007707)2.20703679
110Severe muscular hypotonia (HP:0006829)2.20549875
111Furrowed tongue (HP:0000221)2.18986526
112Aplasia/Hypoplasia of the tongue (HP:0010295)2.18237106
113Abnormality of the fingertips (HP:0001211)2.17047976
114Progressive inability to walk (HP:0002505)2.16895304
115Chorioretinal atrophy (HP:0000533)2.16491346
116Gingival bleeding (HP:0000225)2.16211119
117Clumsiness (HP:0002312)2.16170862
118Recurrent lower respiratory tract infections (HP:0002783)2.15416565
119Nephrogenic diabetes insipidus (HP:0009806)2.12631984
120Cheilitis (HP:0100825)2.11056018
121Decreased central vision (HP:0007663)2.10821618
122Abnormal respiratory motile cilium physiology (HP:0012261)2.10068297
123Bony spicule pigmentary retinopathy (HP:0007737)2.09790866
124Pachygyria (HP:0001302)2.09237861
125Interstitial pulmonary disease (HP:0006530)2.08578931
126Encephalitis (HP:0002383)2.07422947
127Abnormal biliary tract physiology (HP:0012439)2.05848790
128Bile duct proliferation (HP:0001408)2.05848790
129Tachypnea (HP:0002789)2.05812814
130Thick nail (HP:0001805)2.05116019
131Male pseudohermaphroditism (HP:0000037)2.04554488
132Systemic lupus erythematosus (HP:0002725)2.03298433
133Patellar aplasia (HP:0006443)2.02678153
134Aplasia/Hypoplasia of the patella (HP:0006498)2.02250923
135Aplasia/Hypoplasia of the tibia (HP:0005772)2.00667049
136Lymphopenia (HP:0001888)2.00073277
137Absent speech (HP:0001344)2.00001451
138Abnormality of the columella (HP:0009929)1.99351862
139Severe visual impairment (HP:0001141)1.97200745
140Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)1.95433391
141Abnormality of cells of the lymphoid lineage (HP:0012140)1.93960451
142Long toe (HP:0010511)1.93938702
143Abnormality of eosinophils (HP:0001879)1.93816467
144Mitochondrial inheritance (HP:0001427)1.93451776
145Decreased electroretinogram (ERG) amplitude (HP:0000654)1.92494428
146Impaired platelet aggregation (HP:0003540)1.92016238
147Abnormal platelet function (HP:0011869)1.92016238
148Occipital encephalocele (HP:0002085)1.91904148
149Leukopenia (HP:0001882)1.90581709
150Postaxial foot polydactyly (HP:0001830)1.88720385
151Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.88242579
152Abnormality of T cell physiology (HP:0011840)1.87664823
153Abnormality of the thoracic spine (HP:0100711)1.87484895
154Abnormal urine output (HP:0012590)1.86592168
155Genital tract atresia (HP:0001827)1.86446103
156Congenital sensorineural hearing impairment (HP:0008527)1.86195966
157Congenital, generalized hypertrichosis (HP:0004540)1.85991217
158Granulocytopenia (HP:0001913)1.85714917
159Keratoconjunctivitis sicca (HP:0001097)1.84326607
160Petechiae (HP:0000967)1.83450482
161Generalized hypopigmentation (HP:0007513)1.83342747
162Abnormality of the endocardium (HP:0004306)1.82585739
163Ketosis (HP:0001946)1.81738035
164Vaginal atresia (HP:0000148)1.81434918
165Retinal dysplasia (HP:0007973)1.81106027
166Chest pain (HP:0100749)1.80721920
167Recurrent bronchitis (HP:0002837)1.79380194
168Hypoplasia of the thymus (HP:0000778)1.79008586
169Keratoconjunctivitis (HP:0001096)1.78935189
170Arthralgia (HP:0002829)1.78050114
171Stomach cancer (HP:0012126)1.77055017
172Gastrointestinal infarctions (HP:0005244)1.76867533
173Increased CSF lactate (HP:0002490)1.76686004
174Recurrent sinusitis (HP:0011108)1.76359266
175Febrile seizures (HP:0002373)1.75474475
176Nasal polyposis (HP:0100582)1.75356564
177Increased IgE level (HP:0003212)1.74735311
178Ketoacidosis (HP:0001993)1.73735546
179Abnormality of the nasal mucosa (HP:0000433)1.73678873
180Ocular albinism (HP:0001107)1.72471714
181Progressive hearing impairment (HP:0001730)1.71431378
182Calf muscle hypertrophy (HP:0008981)1.71245408
183Protruding tongue (HP:0010808)1.71072590
184Agitation (HP:0000713)1.70964779
185Hepatocellular necrosis (HP:0001404)1.70392542
186Progressive sensorineural hearing impairment (HP:0000408)1.70335924
187Aplasia/Hypoplasia of the spleen (HP:0010451)1.69263706
188Abnormality of renal excretion (HP:0011036)1.69221316
189Abnormality of DNA repair (HP:0003254)1.68773805
190Acute necrotizing encephalopathy (HP:0006965)1.68432557
191Sepsis (HP:0100806)1.68374032
192Optic nerve hypoplasia (HP:0000609)1.68123846
193Optic disc pallor (HP:0000543)1.68081735
194Spontaneous hematomas (HP:0007420)1.67803544
195Amelogenesis imperfecta (HP:0000705)1.66235389
196Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.66068558
197Fair hair (HP:0002286)1.65082627
198Hyperglycinuria (HP:0003108)1.64790151

Predicted kinase interactions (KEA)

RankGene SetZ-score
1FRK5.11235698
2RIPK44.74447212
3MAP3K143.32236957
4MAP4K13.23030924
5IRAK43.13203621
6TAOK33.05879962
7KIT3.00636387
8BMPR1B3.00559241
9IRAK32.99265398
10TLK12.81828150
11GRK12.75019604
12TYK22.60908214
13SIK22.57372701
14ZAK2.55008354
15MAP3K42.51742047
16ACVR1B2.49595993
17WNK42.41233863
18TXK2.39992106
19TBK12.39733463
20WNK32.33137617
21PINK12.28134534
22IKBKE2.27036674
23MAP3K132.23402184
24MAPK132.12227066
25BLK2.11330999
26MAP4K22.05992943
27FES1.98962235
28NUAK11.82528485
29CSF1R1.80151566
30JAK11.78382436
31SYK1.78312790
32IKBKB1.76199532
33JAK31.73131012
34DAPK21.67142929
35MAPK151.64627532
36ZAP701.61380059
37TGFBR21.57677981
38HCK1.55946870
39MARK11.50819681
40BTK1.50564247
41GRK71.37012208
42PHKG11.31863241
43PHKG21.31863241
44OXSR11.30174106
45SIK31.28520216
46ADRBK11.27728927
47TEC1.24194980
48MAP2K41.20709921
49DYRK21.20490307
50CAMK1G1.18471331
51LCK1.17766365
52MAP2K31.17598071
53RIPK11.16435886
54MAPKAPK31.14333360
55LYN1.13482175
56OBSCN1.12699597
57CHUK1.12167430
58STK391.08381673
59PAK31.07603933
60MAP3K101.03180673
61BCKDK1.00396825
62BRD40.94727197
63PTK2B0.93289469
64PRKCG0.92563989
65TGFBR10.91579175
66HIPK20.91165037
67PIK3CA0.89245373
68CAMKK20.88669035
69PRKCE0.87800724
70CAMK1D0.87131037
71AKT30.85569632
72PKN10.82386122
73MAP3K120.82081695
74VRK10.81249976
75JAK20.81237892
76YES10.80176356
77ITK0.79678361
78RPS6KA50.79433743
79NTRK20.78549935
80EPHA30.77842814
81MARK30.76073544
82MAP3K20.74971597
83CSK0.74639234
84FGR0.74484375
85EIF2AK20.74052852
86PRKCI0.73348940
87CASK0.72868695
88MKNK20.71563446
89MAP2K70.70058713
90ADRBK20.69254152
91PIM20.68971993
92FGFR40.66966397
93TTN0.66733468
94MAPK110.66712614
95DAPK10.66704393
96PIM10.64768616
97CDC42BPA0.64682935
98EPHB10.64629075
99MAPK120.62393000
100MAPKAPK50.62367178
101RPS6KA20.61639901
102GRK50.61564295
103FGFR20.61117560
104TNIK0.59667087
105CAMK10.59535569
106CSNK1G20.58398463
107MUSK0.58123860
108PRKAA10.57524537
109MAP3K70.57360122
110PNCK0.57335143
111STK38L0.57207221
112NEK20.56869845
113PRKCH0.56206218
114FGFR30.55761665
115FLT30.55015027
116PRKCZ0.54480584
117MATK0.53893973
118CLK10.53511111
119CAMKK10.53422684
120PRKACA0.53336820
121EEF2K0.53289545
122TIE10.52968162
123PIK3CG0.52767611
124NME10.52286631
125PTK60.51945637
126CAMK2A0.51067024
127PDK10.49465093
128PRKAA20.49276703
129STK110.48356163
130GRK60.47867753
131SGK20.46991232
132CSNK1G30.46438073
133EGFR0.46432912
134CSNK1G10.46025146
135NTRK30.45929820
136CAMK40.45321471
137PRKCQ0.44069665
138ERN10.43114690
139FYN0.43005775
140SGK2230.42776574
141SGK4940.42776574
142CSNK1A1L0.41686083
143MAPK40.41547603
144EPHA40.41388699
145DYRK1B0.40824375
146CDK60.40270756
147DAPK30.39676892
148ERBB20.39446684
149TAOK20.39321131
150DYRK1A0.39186314
151PRKCD0.39003973
152CSNK1A10.37813839
153ABL10.35909063
154MARK20.35301872
155ERBB30.34772714
156PRKCA0.34592859
157BCR0.34396858
158RPS6KA60.33865043
159IRAK10.33630193
160PRKG10.33538688
161INSRR0.33148951
162MAP3K90.33095466
163MAP2K60.32704461
164RPS6KC10.31896352
165RPS6KL10.31896352
166TRPM70.31222610
167TNK20.29060773
168CSNK1D0.28038503
169SIK10.27049485

Predicted pathways (KEGG)

RankGene SetZ-score
1Linoleic acid metabolism_Homo sapiens_hsa005913.01145826
2alpha-Linolenic acid metabolism_Homo sapiens_hsa005923.01085571
3Leishmaniasis_Homo sapiens_hsa051402.81726969
4Phototransduction_Homo sapiens_hsa047442.75061989
5NOD-like receptor signaling pathway_Homo sapiens_hsa046212.61958361
6Osteoclast differentiation_Homo sapiens_hsa043802.59608963
7Nitrogen metabolism_Homo sapiens_hsa009102.57436776
8NF-kappa B signaling pathway_Homo sapiens_hsa040642.52712300
9B cell receptor signaling pathway_Homo sapiens_hsa046622.52592387
10Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.49590186
11Toll-like receptor signaling pathway_Homo sapiens_hsa046202.39583760
12Butanoate metabolism_Homo sapiens_hsa006502.34748284
13Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.20119690
14Primary immunodeficiency_Homo sapiens_hsa053402.15127025
15Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006032.13586585
16Selenocompound metabolism_Homo sapiens_hsa004502.10443372
17Maturity onset diabetes of the young_Homo sapiens_hsa049502.05806434
18Oxidative phosphorylation_Homo sapiens_hsa001902.03578523
19Tryptophan metabolism_Homo sapiens_hsa003802.00345673
20Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.96915687
21Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.95357482
22Pertussis_Homo sapiens_hsa051331.93439402
23Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.92917559
24RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.92489660
25Tuberculosis_Homo sapiens_hsa051521.92058816
26Ether lipid metabolism_Homo sapiens_hsa005651.90572920
27Measles_Homo sapiens_hsa051621.84559020
28Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.82149126
29Staphylococcus aureus infection_Homo sapiens_hsa051501.81857482
30Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.69897300
31Allograft rejection_Homo sapiens_hsa053301.69806576
32Influenza A_Homo sapiens_hsa051641.67920688
33Hematopoietic cell lineage_Homo sapiens_hsa046401.66814381
34Rheumatoid arthritis_Homo sapiens_hsa053231.61502022
35TNF signaling pathway_Homo sapiens_hsa046681.56175074
36Asthma_Homo sapiens_hsa053101.51536337
37Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.51389010
38Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.50793020
39Parkinsons disease_Homo sapiens_hsa050121.48385244
40Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.43578552
41Intestinal immune network for IgA production_Homo sapiens_hsa046721.43406506
42Toxoplasmosis_Homo sapiens_hsa051451.43203726
43T cell receptor signaling pathway_Homo sapiens_hsa046601.41656210
44Malaria_Homo sapiens_hsa051441.41426062
45Graft-versus-host disease_Homo sapiens_hsa053321.36785963
46Chemokine signaling pathway_Homo sapiens_hsa040621.35979490
47Insulin secretion_Homo sapiens_hsa049111.32436885
48African trypanosomiasis_Homo sapiens_hsa051431.29269752
49Jak-STAT signaling pathway_Homo sapiens_hsa046301.29051197
50Legionellosis_Homo sapiens_hsa051341.26462421
51Type II diabetes mellitus_Homo sapiens_hsa049301.26243113
52Peroxisome_Homo sapiens_hsa041461.25737493
53Taste transduction_Homo sapiens_hsa047421.24556671
54Cardiac muscle contraction_Homo sapiens_hsa042601.24169444
55Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.22737440
56Acute myeloid leukemia_Homo sapiens_hsa052211.22190325
57Type I diabetes mellitus_Homo sapiens_hsa049401.21991114
58Collecting duct acid secretion_Homo sapiens_hsa049661.19685645
59Arachidonic acid metabolism_Homo sapiens_hsa005901.18945969
60Chemical carcinogenesis_Homo sapiens_hsa052041.16194852
61Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.16135647
62Glycosaminoglycan degradation_Homo sapiens_hsa005311.15296011
63Phagosome_Homo sapiens_hsa041451.15178670
64RNA polymerase_Homo sapiens_hsa030201.14072873
65Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.13703956
66Ascorbate and aldarate metabolism_Homo sapiens_hsa000531.12955880
67Basal transcription factors_Homo sapiens_hsa030221.12680113
68Steroid hormone biosynthesis_Homo sapiens_hsa001401.10427035
69Herpes simplex infection_Homo sapiens_hsa051681.10269093
70Serotonergic synapse_Homo sapiens_hsa047261.10247433
71Other glycan degradation_Homo sapiens_hsa005111.08767244
72Apoptosis_Homo sapiens_hsa042101.08202691
73Ovarian steroidogenesis_Homo sapiens_hsa049131.08136569
74Hepatitis B_Homo sapiens_hsa051611.06152316
75Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.05131787
76Homologous recombination_Homo sapiens_hsa034401.05110733
77Huntingtons disease_Homo sapiens_hsa050161.04137687
78Lysosome_Homo sapiens_hsa041421.02914073
79GABAergic synapse_Homo sapiens_hsa047271.01925049
80Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.01686410
81Histidine metabolism_Homo sapiens_hsa003401.00565418
82Salmonella infection_Homo sapiens_hsa051320.99967324
83Primary bile acid biosynthesis_Homo sapiens_hsa001200.99654822
84Alzheimers disease_Homo sapiens_hsa050100.99340935
85Platelet activation_Homo sapiens_hsa046110.95821463
86Regulation of autophagy_Homo sapiens_hsa041400.95433431
87Propanoate metabolism_Homo sapiens_hsa006400.94823798
88Salivary secretion_Homo sapiens_hsa049700.94220891
89Neurotrophin signaling pathway_Homo sapiens_hsa047220.93850020
90Synaptic vesicle cycle_Homo sapiens_hsa047210.93567570
91AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.93509972
92Fanconi anemia pathway_Homo sapiens_hsa034600.93423652
93Retinol metabolism_Homo sapiens_hsa008300.93299357
94Carbohydrate digestion and absorption_Homo sapiens_hsa049730.91186265
95Caffeine metabolism_Homo sapiens_hsa002320.90343695
96Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.90247087
97Shigellosis_Homo sapiens_hsa051310.90107650
98Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.89100771
99Protein export_Homo sapiens_hsa030600.88675910
100Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.88566250
101Hepatitis C_Homo sapiens_hsa051600.87989348
102Chronic myeloid leukemia_Homo sapiens_hsa052200.87504860
103Glycerolipid metabolism_Homo sapiens_hsa005610.84868887
104Transcriptional misregulation in cancer_Homo sapiens_hsa052020.84461292
105Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.84207535
106beta-Alanine metabolism_Homo sapiens_hsa004100.83529646
107Vascular smooth muscle contraction_Homo sapiens_hsa042700.82578616
108Prolactin signaling pathway_Homo sapiens_hsa049170.82223267
109Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.82132698
110Antigen processing and presentation_Homo sapiens_hsa046120.79235303
111Phosphatidylinositol signaling system_Homo sapiens_hsa040700.78547692
112Morphine addiction_Homo sapiens_hsa050320.78048355
113Fat digestion and absorption_Homo sapiens_hsa049750.76576850
114Dopaminergic synapse_Homo sapiens_hsa047280.74015535
115VEGF signaling pathway_Homo sapiens_hsa043700.73986298
116Leukocyte transendothelial migration_Homo sapiens_hsa046700.71894353
117ABC transporters_Homo sapiens_hsa020100.71464100
118Circadian rhythm_Homo sapiens_hsa047100.67828521
119Sulfur relay system_Homo sapiens_hsa041220.67408420
120Nicotine addiction_Homo sapiens_hsa050330.66067183
121Mineral absorption_Homo sapiens_hsa049780.65366475
122Systemic lupus erythematosus_Homo sapiens_hsa053220.65183697
123SNARE interactions in vesicular transport_Homo sapiens_hsa041300.62412055
124Sulfur metabolism_Homo sapiens_hsa009200.61291661
125Cocaine addiction_Homo sapiens_hsa050300.60525115
126Olfactory transduction_Homo sapiens_hsa047400.59409304
127Inositol phosphate metabolism_Homo sapiens_hsa005620.57432742
128Fatty acid degradation_Homo sapiens_hsa000710.56658040
129Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.55561206
130cAMP signaling pathway_Homo sapiens_hsa040240.55118222
131Glycerophospholipid metabolism_Homo sapiens_hsa005640.54487710
132Long-term depression_Homo sapiens_hsa047300.54378058
133Alcoholism_Homo sapiens_hsa050340.54152558
134Pancreatic cancer_Homo sapiens_hsa052120.54046249
135Calcium signaling pathway_Homo sapiens_hsa040200.53496219
136Non-small cell lung cancer_Homo sapiens_hsa052230.53455807
137MAPK signaling pathway_Homo sapiens_hsa040100.53064237
138Viral myocarditis_Homo sapiens_hsa054160.52089601
139Amphetamine addiction_Homo sapiens_hsa050310.51707294
140Sphingolipid signaling pathway_Homo sapiens_hsa040710.51691680
141Insulin resistance_Homo sapiens_hsa049310.51549638
142Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.51395950
143Adipocytokine signaling pathway_Homo sapiens_hsa049200.51347853
144Renin secretion_Homo sapiens_hsa049240.49633376
145Epstein-Barr virus infection_Homo sapiens_hsa051690.49511290
146Amoebiasis_Homo sapiens_hsa051460.49430946
147Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.48979468
148Autoimmune thyroid disease_Homo sapiens_hsa053200.48831390
149GnRH signaling pathway_Homo sapiens_hsa049120.48769128
150Cholinergic synapse_Homo sapiens_hsa047250.48014381
151RNA degradation_Homo sapiens_hsa030180.47790823
152Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.47759368
153Dorso-ventral axis formation_Homo sapiens_hsa043200.47111571
154Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.46963265
155Aldosterone synthesis and secretion_Homo sapiens_hsa049250.46535596
156Metabolic pathways_Homo sapiens_hsa011000.46297771
157Glutamatergic synapse_Homo sapiens_hsa047240.45569736
158Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.45529391
159Gastric acid secretion_Homo sapiens_hsa049710.44985838
160FoxO signaling pathway_Homo sapiens_hsa040680.44913035
161Basal cell carcinoma_Homo sapiens_hsa052170.44754308
162Phospholipase D signaling pathway_Homo sapiens_hsa040720.44322527
163Oxytocin signaling pathway_Homo sapiens_hsa049210.44074822
164Hedgehog signaling pathway_Homo sapiens_hsa043400.43677060
165Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.41941890
166Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.40904095
167Vibrio cholerae infection_Homo sapiens_hsa051100.40693905
168Notch signaling pathway_Homo sapiens_hsa043300.40112488
169Pancreatic secretion_Homo sapiens_hsa049720.39186345
170Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.39052497
171Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.36618603
172Circadian entrainment_Homo sapiens_hsa047130.36438019
173Pentose and glucuronate interconversions_Homo sapiens_hsa000400.36407586
174Fatty acid biosynthesis_Homo sapiens_hsa000610.35396887

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