SORL1

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 mosaic protein that belongs to at least two families: the vacuolar protein sorting 10 (VPS10) domain-containing receptor family, and the low density lipoprotein receptor (LDLR) family. The encoded protein also contains fibronectin type III repeats and an epidermal growth factor repeat. The encoded preproprotein is proteolytically processed to generate the mature receptor, which likely plays roles in endocytosis and sorting. Mutations in this gene may be associated with Alzheimer's disease. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1positive regulation of gamma-delta T cell activation (GO:0046645)6.70774451
2negative regulation of cell killing (GO:0031342)6.47701215
3negative regulation of leukocyte mediated cytotoxicity (GO:0001911)6.47701215
4positive regulation by symbiont of host defense response (GO:0052509)6.01949426
5modulation by symbiont of host defense response (GO:0052031)6.01949426
6modulation by organism of immune response of other organism involved in symbiotic interaction (GO:006.01949426
7modulation by organism of defense response of other organism involved in symbiotic interaction (GO:06.01949426
8positive regulation by organism of defense response of other organism involved in symbiotic interact6.01949426
9modulation by symbiont of host immune response (GO:0052553)6.01949426
10antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G5.95024261
11regulation of B cell receptor signaling pathway (GO:0050855)5.68795521
12locomotory exploration behavior (GO:0035641)5.62698885
13detection of molecule of bacterial origin (GO:0032490)5.41702147
14regulation of short-term neuronal synaptic plasticity (GO:0048172)5.28624669
15neuronal action potential propagation (GO:0019227)5.27474160
16macrophage activation involved in immune response (GO:0002281)5.15496929
17microglial cell activation (GO:0001774)5.15263821
18ionotropic glutamate receptor signaling pathway (GO:0035235)5.10650038
19positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.07725945
20vocalization behavior (GO:0071625)4.98278092
21regulation of gamma-delta T cell activation (GO:0046643)4.97194313
22synaptic vesicle exocytosis (GO:0016079)4.92163676
23synaptic vesicle maturation (GO:0016188)4.90454143
24cellular potassium ion homeostasis (GO:0030007)4.88175101
25regulation of gamma-delta T cell differentiation (GO:0045586)4.84251892
26glutamate receptor signaling pathway (GO:0007215)4.74799046
27positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.73959997
28glutamate secretion (GO:0014047)4.67025120
29cellular extravasation (GO:0045123)4.66868441
30positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)4.65934983
31antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.65926402
32regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.57199489
33regulation of synaptic vesicle exocytosis (GO:2000300)4.55626460
34positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)4.53497167
35antigen processing and presentation of endogenous antigen (GO:0019883)4.53036949
36detection of other organism (GO:0098543)4.49467140
37sodium ion export (GO:0071436)4.49275406
38detection of external biotic stimulus (GO:0098581)4.49259226
39regulation of interferon-beta biosynthetic process (GO:0045357)4.47014218
40synaptic transmission, glutamatergic (GO:0035249)4.38209792
41response to interleukin-15 (GO:0070672)4.35355483
42negative regulation of lymphocyte mediated immunity (GO:0002707)4.32290968
43cerebellar granule cell differentiation (GO:0021707)4.26288172
44macrophage activation (GO:0042116)4.25418588
45B cell receptor signaling pathway (GO:0050853)4.24257690
46response to immune response of other organism involved in symbiotic interaction (GO:0052564)4.20952649
47response to host immune response (GO:0052572)4.20952649
48negative thymic T cell selection (GO:0045060)4.15596354
49gamma-aminobutyric acid signaling pathway (GO:0007214)4.15396776
50gamma-aminobutyric acid transport (GO:0015812)4.15323058
51regulation of glutamate receptor signaling pathway (GO:1900449)4.15067754
52exploration behavior (GO:0035640)4.14777643
53negative T cell selection (GO:0043383)4.13903122
54antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.12882651
55cerebellar Purkinje cell differentiation (GO:0021702)4.09538728
56neuron-neuron synaptic transmission (GO:0007270)4.09458438
57positive thymic T cell selection (GO:0045059)4.05954269
58neurotransmitter secretion (GO:0007269)4.05197506
59G-protein coupled glutamate receptor signaling pathway (GO:0007216)4.03777083
60regulation of synaptic vesicle transport (GO:1902803)4.02226143
61neutrophil activation involved in immune response (GO:0002283)4.01814353
62positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)4.00724431
63negative regulation of T cell mediated immunity (GO:0002710)4.00298026
64regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)3.98409205
65synaptic vesicle docking involved in exocytosis (GO:0016081)3.97453679
66long-term memory (GO:0007616)3.93121493
67detection of bacterium (GO:0016045)3.92610149
68detection of biotic stimulus (GO:0009595)3.91484431
69leukocyte aggregation (GO:0070486)3.91147361
70positive T cell selection (GO:0043368)3.89515509
71response to host (GO:0075136)3.89130103
72response to host defenses (GO:0052200)3.89130103
73response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.89130103
74neuron cell-cell adhesion (GO:0007158)3.88871686
75protein localization to synapse (GO:0035418)3.88645584
76cellular response to interleukin-15 (GO:0071350)3.88188797
77regulation of long-term neuronal synaptic plasticity (GO:0048169)3.87506278
78neutrophil mediated immunity (GO:0002446)3.85883325
79membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.82622781
80negative regulation of synaptic transmission, GABAergic (GO:0032229)3.80890725
81regulation of excitatory postsynaptic membrane potential (GO:0060079)3.80865435
82positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.80058023
83negative regulation of interleukin-12 production (GO:0032695)3.78354188
84regulation of neuronal synaptic plasticity (GO:0048168)3.77078802
85negative regulation of leukocyte mediated immunity (GO:0002704)3.74185384
86respiratory burst (GO:0045730)3.73534677
87response to peptidoglycan (GO:0032494)3.72839280
88myeloid cell activation involved in immune response (GO:0002275)3.66755976
89regulation of postsynaptic membrane potential (GO:0060078)3.60858024
90positive regulation of synapse maturation (GO:0090129)3.60773247
91regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)3.58351089
92regulation of B cell differentiation (GO:0045577)3.57159629
93potassium ion import (GO:0010107)3.54868361
94neutrophil activation (GO:0042119)3.54000163
95myeloid leukocyte mediated immunity (GO:0002444)3.53897110
96cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.52940343
97layer formation in cerebral cortex (GO:0021819)3.51587352
98long-term synaptic potentiation (GO:0060291)3.49419555
99transmission of nerve impulse (GO:0019226)3.47089831
100positive regulation of B cell differentiation (GO:0045579)3.44935170
101positive regulation of membrane potential (GO:0045838)3.44767374
102activated T cell proliferation (GO:0050798)3.41680040
103L-amino acid import (GO:0043092)3.38798676
104regulation of synaptic plasticity (GO:0048167)3.38619642
105neurotransmitter transport (GO:0006836)3.36290358
106neurotransmitter-gated ion channel clustering (GO:0072578)3.32627096
107proline transport (GO:0015824)3.32116975
108T cell selection (GO:0045058)3.29448819
109membrane depolarization during action potential (GO:0086010)3.28972244
110regulation of dendritic spine morphogenesis (GO:0061001)3.26893652
111negative regulation of adaptive immune response based on somatic recombination of immune receptors b3.25814285
112antigen processing and presentation via MHC class Ib (GO:0002475)3.25211598
113regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.25016180
114cellular sodium ion homeostasis (GO:0006883)3.24581199
115positive regulation of interleukin-8 biosynthetic process (GO:0045416)3.24237760
116neuromuscular process controlling balance (GO:0050885)3.24085086
117production of molecular mediator involved in inflammatory response (GO:0002532)3.23839028
118synaptic vesicle endocytosis (GO:0048488)3.23484098
119leukocyte migration involved in inflammatory response (GO:0002523)3.23407367
120negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)3.22554691
121regulation of synaptic transmission, glutamatergic (GO:0051966)3.20053547
122membrane depolarization (GO:0051899)3.19608364
123regulation of synapse structural plasticity (GO:0051823)3.19170706
124T cell migration (GO:0072678)3.18855335
125cell differentiation in hindbrain (GO:0021533)3.17551082
126response to muramyl dipeptide (GO:0032495)3.17001241
127negative regulation of B cell proliferation (GO:0030889)3.16712847
128regulation of ARF protein signal transduction (GO:0032012)3.16146672
129neuromuscular process controlling posture (GO:0050884)3.14703395
130presynaptic membrane organization (GO:0097090)3.14580636
131neuron recognition (GO:0008038)3.13612671
132long term synaptic depression (GO:0060292)3.13331972
133potassium ion homeostasis (GO:0055075)3.11504868
134dendritic spine morphogenesis (GO:0060997)3.11389097
135cell communication by electrical coupling (GO:0010644)3.11329123
136regulation of neurotransmitter secretion (GO:0046928)3.11313608
137regulation of neurotransmitter levels (GO:0001505)3.11275084
138immunoglobulin mediated immune response (GO:0016064)3.10904259
139hepatocyte apoptotic process (GO:0097284)3.10828416
140granulocyte activation (GO:0036230)3.10444985
141adult walking behavior (GO:0007628)3.10189237
142regulation of myeloid leukocyte mediated immunity (GO:0002886)3.09301258
143negative regulation of B cell mediated immunity (GO:0002713)3.09135086
144negative regulation of immunoglobulin mediated immune response (GO:0002890)3.09135086
145regulation of vesicle fusion (GO:0031338)3.07308189
146presynaptic membrane assembly (GO:0097105)3.07194370
147histone H3-K36 demethylation (GO:0070544)3.07185323
148positive regulation of interferon-alpha production (GO:0032727)3.07002322
149positive regulation of granulocyte differentiation (GO:0030854)3.06778191
150activation of protein kinase A activity (GO:0034199)3.06525811
151positive regulation of mast cell activation (GO:0033005)3.06407332
152thymic T cell selection (GO:0045061)3.05844937
153phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)3.05006268
154membrane hyperpolarization (GO:0060081)3.04959259
155positive regulation of cellular amide metabolic process (GO:0034250)3.03805343
156regulation of voltage-gated calcium channel activity (GO:1901385)3.03110306
157glycine transport (GO:0015816)3.02677736
158regulation of mast cell degranulation (GO:0043304)3.02158048
159negative regulation of adaptive immune response (GO:0002820)3.01190033
160axonal fasciculation (GO:0007413)2.99534114
161response to histamine (GO:0034776)2.98576031
162regulation of nitric-oxide synthase biosynthetic process (GO:0051769)2.97768787
163negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.97493556
164negative regulation of T-helper cell differentiation (GO:0045623)2.97493556
165regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.96189206
166regulation of alpha-beta T cell proliferation (GO:0046640)2.95340498
167regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.95185381
168dendritic cell migration (GO:0036336)2.94730719
169germinal center formation (GO:0002467)2.90884725
170positive regulation of potassium ion transmembrane transport (GO:1901381)2.90251186
171regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.86587260
172defense response to protozoan (GO:0042832)2.86080368
173vesicle transport along microtubule (GO:0047496)2.84564687
174regulation of neurotransmitter transport (GO:0051588)2.84220871
175interferon-gamma production (GO:0032609)2.83984211
176establishment of nucleus localization (GO:0040023)2.83679313
177regulation of synaptic transmission (GO:0050804)2.82968347
178leukocyte degranulation (GO:0043299)2.82145189
179cellular response to ethanol (GO:0071361)2.81691912
180regulation of antigen receptor-mediated signaling pathway (GO:0050854)2.81541417
181chemosensory behavior (GO:0007635)2.81408806
182myeloid leukocyte activation (GO:0002274)2.81387152
183regulation of interferon-alpha production (GO:0032647)2.81368362
184regulation of leukocyte degranulation (GO:0043300)2.80867034
185regulation of mast cell activation involved in immune response (GO:0033006)2.80713194
186learning (GO:0007612)2.80279413
187synaptic transmission (GO:0007268)2.80278685
188regulation of mast cell activation (GO:0033003)2.80249134
189regulation of dendritic spine development (GO:0060998)2.80155997
190negative regulation of erythrocyte differentiation (GO:0045647)2.79765505
191synapse assembly (GO:0007416)2.79701511
192innervation (GO:0060384)2.78103026
193dendrite morphogenesis (GO:0048813)2.76538542
194mechanosensory behavior (GO:0007638)2.75293076
195behavioral fear response (GO:0001662)2.74846920
196behavioral defense response (GO:0002209)2.74846920
197neuromuscular process (GO:0050905)2.74685828
198G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.73918299
199fear response (GO:0042596)2.73807855
200mating behavior (GO:0007617)2.73611321

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human5.69139718
2IRF8_22096565_ChIP-ChIP_GC-B_Human5.33512455
3FOXP3_17237761_ChIP-ChIP_TREG_Mouse4.84029677
4* STAT6_20620947_ChIP-Seq_CD4_POS_T_Human4.63809910
5IRF8_21731497_ChIP-ChIP_J774_Mouse3.77535352
6MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.61286065
7BP1_19119308_ChIP-ChIP_Hs578T_Human3.32831697
8RUNX_20019798_ChIP-Seq_JUKART_Human3.32669322
9GBX2_23144817_ChIP-Seq_PC3_Human3.30167857
10* SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.25504754
11IRF8_27001747_Chip-Seq_BMDM_Mouse3.21205727
12STAT3_20064451_ChIP-Seq_CD4+T_Mouse3.12237931
13SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.03805327
14SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.94930350
15IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.88865027
16MYB_21317192_ChIP-Seq_ERMYB_Mouse2.86259762
17JARID2_20064375_ChIP-Seq_MESCs_Mouse2.84654030
18DROSHA_22980978_ChIP-Seq_HELA_Human2.72822317
19FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse2.70467496
20SCL_19346495_ChIP-Seq_HPC-7_Human2.70124943
21NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.67987929
22IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.67281902
23EZH2_18974828_ChIP-Seq_MESCs_Mouse2.57328899
24RNF2_18974828_ChIP-Seq_MESCs_Mouse2.57328899
25MYB_26560356_Chip-Seq_TH2_Human2.52758045
26SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.48422678
27SPI1_23127762_ChIP-Seq_K562_Human2.48298349
28IKZF1_21737484_ChIP-ChIP_HCT116_Human2.47812449
29REST_21632747_ChIP-Seq_MESCs_Mouse2.47036173
30MTF2_20144788_ChIP-Seq_MESCs_Mouse2.46198877
31RARB_27405468_Chip-Seq_BRAIN_Mouse2.44523720
32JARID2_20075857_ChIP-Seq_MESCs_Mouse2.37801267
33SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.37319157
34SPI1_23547873_ChIP-Seq_NB4_Human2.35603316
35SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.34201333
36SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.27893010
37* Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.26668546
38VDR_24763502_ChIP-Seq_THP-1_Human2.13024622
39SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.10731916
40* MYB_26560356_Chip-Seq_TH1_Human2.08710696
41NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.05616045
42* E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human2.04226921
43SUZ12_27294783_Chip-Seq_ESCs_Mouse2.03765676
44RNF2_27304074_Chip-Seq_ESCs_Mouse2.02441446
45EZH2_27304074_Chip-Seq_ESCs_Mouse2.00943944
46EZH2_27294783_Chip-Seq_ESCs_Mouse2.00830399
47EED_16625203_ChIP-ChIP_MESCs_Mouse1.99191379
48* MAF_26560356_Chip-Seq_TH1_Human1.98851110
49* BRD4_27068464_Chip-Seq_AML-cells_Mouse1.98164355
50* REST_18959480_ChIP-ChIP_MESCs_Mouse1.96744199
51VDR_24787735_ChIP-Seq_THP-1_Human1.96461939
52MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.96045585
53* GATA3_27048872_Chip-Seq_THYMUS_Human1.90703125
54ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.90187040
55EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.81924824
56RUNX1_22412390_ChIP-Seq_EML_Mouse1.79433868
57STAT4_19710469_ChIP-ChIP_TH1__Mouse1.77361651
58VDR_21846776_ChIP-Seq_THP-1_Human1.76660725
59AR_21572438_ChIP-Seq_LNCaP_Human1.76178139
60RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.74735318
61SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.72194052
62GATA1_22025678_ChIP-Seq_K562_Human1.70309456
63MYC_22102868_ChIP-Seq_BL_Human1.69936294
64GATA1_19941827_ChIP-Seq_MEL_Mouse1.69673686
65TCF7_22412390_ChIP-Seq_EML_Mouse1.69339271
66UTX_26944678_Chip-Seq_JUKART_Human1.67510088
67SMAD4_21799915_ChIP-Seq_A2780_Human1.66060372
68TAF15_26573619_Chip-Seq_HEK293_Human1.61150809
69SMAD_19615063_ChIP-ChIP_OVARY_Human1.56970392
70PU_27001747_Chip-Seq_BMDM_Mouse1.53372384
71TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.53218653
72CTBP1_25329375_ChIP-Seq_LNCAP_Human1.52718910
73* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.51546245
74EGR1_19374776_ChIP-ChIP_THP-1_Human1.49827687
75* PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse1.49451837
76* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.48037126
77GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.47160503
78* GATA3_26560356_Chip-Seq_TH2_Human1.45226619
79STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.42829233
80KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.40654320
81PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.40276276
82GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.39979583
83VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.38952135
84* NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.36355650
85MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.32065789
86ERG_21242973_ChIP-ChIP_JURKAT_Human1.31416071
87GATA1_19941826_ChIP-Seq_K562_Human1.31319428
88TP53_16413492_ChIP-PET_HCT116_Human1.31252221
89KDM2B_26808549_Chip-Seq_DND41_Human1.29597927
90ZNF217_24962896_ChIP-Seq_MCF-7_Human1.29595079
91TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.29510050
92STAT3_23295773_ChIP-Seq_U87_Human1.28314069
93SOX2_21211035_ChIP-Seq_LN229_Gbm1.27779947
94P300_19829295_ChIP-Seq_ESCs_Human1.27323843
95PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.27054357
96RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.26547336
97AR_25329375_ChIP-Seq_VCAP_Human1.26471755
98RUNX1_17652178_ChIP-ChIP_JURKAT_Human1.26334287
99* ARNT_22903824_ChIP-Seq_MCF-7_Human1.26270522
100SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.24526791
101* NR3C1_23031785_ChIP-Seq_PC12_Mouse1.24476917
102GATA2_22383799_ChIP-Seq_G1ME_Mouse1.23684569
103GATA2_19941826_ChIP-Seq_K562_Human1.22071826
104* AR_19668381_ChIP-Seq_PC3_Human1.22026303
105CDX2_19796622_ChIP-Seq_MESCs_Mouse1.21910430
106* MAF_26560356_Chip-Seq_TH2_Human1.21847183
107CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.21809124
108WT1_25993318_ChIP-Seq_PODOCYTE_Human1.21669989
109CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.21610364
110* PIAS1_25552417_ChIP-Seq_VCAP_Human1.21604036
111* AHR_22903824_ChIP-Seq_MCF-7_Human1.20637377
112* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.20598909
113SMAD3_21741376_ChIP-Seq_EPCs_Human1.20272948
114ZNF274_21170338_ChIP-Seq_K562_Hela1.19449941
115* ZFP57_27257070_Chip-Seq_ESCs_Mouse1.17485015
116LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.17331447
117DNAJC2_21179169_ChIP-ChIP_NT2_Human1.16708254
118KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.15770556
119CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.15429736
120SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.15258235
121NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.14747630
122RXR_22108803_ChIP-Seq_LS180_Human1.14685920
123KDM2B_26808549_Chip-Seq_K562_Human1.13388748
124TCF4_23295773_ChIP-Seq_U87_Human1.13171409
125TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.12739737
126RING1B_27294783_Chip-Seq_ESCs_Mouse1.12370366
127GATA2_21666600_ChIP-Seq_HMVEC_Human1.10661377
128GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.09771898
129ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.09258047
130TOP2B_26459242_ChIP-Seq_MCF-7_Human1.08547412
131RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.06016682
132P53_22127205_ChIP-Seq_FIBROBLAST_Human1.05773489
133PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.05359876
134WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.05296499
135AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.04546412
136LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.04339980
137NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.03412290
138PRDM14_20953172_ChIP-Seq_ESCs_Human1.02683047
139KDM2B_26808549_Chip-Seq_JURKAT_Human1.02330303
140RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.00009838
141YAP1_20516196_ChIP-Seq_MESCs_Mouse0.99215076
142CTNNB1_20460455_ChIP-Seq_HCT116_Human0.98916379
143GATA1_22383799_ChIP-Seq_G1ME_Mouse0.98373329
144SMAD3_21741376_ChIP-Seq_HESCs_Human0.98276274
145POU3F2_20337985_ChIP-ChIP_501MEL_Human0.97880867
146GATA1_19941827_ChIP-Seq_MEL86_Mouse0.97773979
147* CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse0.97107747
148TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.96864508
149SMRT_27268052_Chip-Seq_Bcells_Human0.96046603
150* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.95666547
151SMAD3_21741376_ChIP-Seq_ESCs_Human0.95604950
152RUNX2_22187159_ChIP-Seq_PCA_Human0.95331115
153CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse0.93649676
154* SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.93095867
155* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.92451545
156* RING1B_27294783_Chip-Seq_NPCs_Mouse0.92279495
157SMAD4_21741376_ChIP-Seq_HESCs_Human0.91811748
158* PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.91716391
159CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.91347933
160PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.90874331
161VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.90838104
162* NR3C1_21868756_ChIP-Seq_MCF10A_Human0.90478694
163TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.90093323
164POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.90093323
165TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.89841999
166BCAT_22108803_ChIP-Seq_LS180_Human0.89034738
167UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human0.88291965
168TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.88260601
169* FOXO3_23340844_ChIP-Seq_DLD1_Human0.88136920
170CBX2_27304074_Chip-Seq_ESCs_Mouse0.87454524
171BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.87224351
172GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.85905297
173BMI1_23680149_ChIP-Seq_NPCS_Mouse0.85579929
174TP53_18474530_ChIP-ChIP_U2OS_Human0.84797775
175GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.83633570
176SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse0.83330119
177STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.82866484
178KLF1_20508144_ChIP-Seq_FETAL-LIVER-ERYTHROID_Mouse0.82715743
179BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.81909816
180CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.81661230
181* PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.75349223
182* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.74058662
183PU.1_20513432_ChIP-Seq_Bcells_Mouse0.73825894
184ESR1_20079471_ChIP-ChIP_T-47D_Human0.71678043
185FLI1_20887958_ChIP-Seq_HPC-7_Mouse0.70773329
186SFPI1_20887958_ChIP-Seq_HPC-7_Mouse0.70244387
187SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse0.70220266
188* FOXA2_19822575_ChIP-Seq_HepG2_Human0.68179315
189THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.66118396
190LXR_22158963_ChIP-Seq_LIVER_Mouse0.65463123
191GATA3_26560356_Chip-Seq_TH1_Human0.62964638

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004859_abnormal_synaptic_plasticity6.36852199
2MP0003880_abnormal_central_pattern4.69574804
3MP0003724_increased_susceptibility_to4.64307155
4MP0003635_abnormal_synaptic_transmissio4.19213912
5MP0004270_analgesia3.73929341
6MP0009046_muscle_twitch3.72540681
7MP0001835_abnormal_antigen_presentation3.63189594
8MP0009745_abnormal_behavioral_response3.49114107
9MP0003436_decreased_susceptibility_to3.47656700
10MP0002064_seizures3.32682168
11MP0002063_abnormal_learning/memory/cond3.20863193
12MP0001968_abnormal_touch/_nociception3.00820215
13MP0008260_abnormal_autophagy2.97559051
14MP0002272_abnormal_nervous_system2.94699145
15MP0001800_abnormal_humoral_immune2.94439720
16MP0000685_abnormal_immune_system2.83889476
17MP0005671_abnormal_response_to2.81649569
18MP0002572_abnormal_emotion/affect_behav2.79720750
19MP0002419_abnormal_innate_immunity2.77641997
20MP0003763_abnormal_thymus_physiology2.74512087
21MP0001486_abnormal_startle_reflex2.60369918
22MP0002734_abnormal_mechanical_nocicepti2.59278919
23MP0008569_lethality_at_weaning2.59083418
24MP0002735_abnormal_chemical_nociception2.55224816
25MP0005025_abnormal_response_to2.53485862
26MP0005000_abnormal_immune_tolerance2.53456236
27MP0005423_abnormal_somatic_nervous2.51915549
28MP0002736_abnormal_nociception_after2.51768082
29MP0002723_abnormal_immune_serum2.45547871
30MP0001501_abnormal_sleep_pattern2.45522667
31MP0001440_abnormal_grooming_behavior2.41822498
32MP0002420_abnormal_adaptive_immunity2.39940447
33MP0005387_immune_system_phenotype2.39847465
34MP0001790_abnormal_immune_system2.39847465
35MP0001819_abnormal_immune_cell2.37168147
36MP0002452_abnormal_antigen_presenting2.34075396
37MP0003300_gastrointestinal_ulcer2.29291351
38MP0009785_altered_susceptibility_to2.27094479
39MP0002067_abnormal_sensory_capabilities2.22512320
40MP0004381_abnormal_hair_follicle2.15074343
41MP0005464_abnormal_platelet_physiology2.13984527
42MP0005451_abnormal_body_composition2.03667253
43MP0001970_abnormal_pain_threshold2.01444076
44MP0002398_abnormal_bone_marrow2.00544900
45MP0002733_abnormal_thermal_nociception1.98838089
46MP0006082_CNS_inflammation1.98085064
47MP0003191_abnormal_cellular_cholesterol1.92678248
48MP0000716_abnormal_immune_system1.90554142
49MP0002396_abnormal_hematopoietic_system1.89071074
50MP0002405_respiratory_system_inflammati1.86261508
51MP0002166_altered_tumor_susceptibility1.86062738
52MP0004885_abnormal_endolymph1.82384052
53MP0003866_abnormal_defecation1.81957647
54MP0009780_abnormal_chondrocyte_physiolo1.78615735
55MP0002184_abnormal_innervation1.77243879
56MP0004858_abnormal_nervous_system1.76442412
57MP0003828_pulmonary_edema1.71998839
58MP0002909_abnormal_adrenal_gland1.69586860
59MP0000689_abnormal_spleen_morphology1.69338981
60MP0001533_abnormal_skeleton_physiology1.68881105
61MP0002148_abnormal_hypersensitivity_rea1.65772963
62MP0002722_abnormal_immune_system1.65513021
63MP0004924_abnormal_behavior1.65008245
64MP0005386_behavior/neurological_phenoty1.65008245
65MP0003633_abnormal_nervous_system1.64039258
66MP0003656_abnormal_erythrocyte_physiolo1.63410874
67MP0000703_abnormal_thymus_morphology1.63022338
68MP0002557_abnormal_social/conspecific_i1.59836891
69MP0002822_catalepsy1.59643328
70MP0000920_abnormal_myelination1.58941223
71* MP0003329_amyloid_beta_deposits1.58209941
72MP0000778_abnormal_nervous_system1.58189638
73MP0001845_abnormal_inflammatory_respons1.57787730
74MP0003879_abnormal_hair_cell1.52813565
75MP0002132_abnormal_respiratory_system1.52508569
76MP0004145_abnormal_muscle_electrophysio1.52469315
77MP0004947_skin_inflammation1.52262931
78MP0004811_abnormal_neuron_physiology1.49774890
79MP0000955_abnormal_spinal_cord1.48275498
80MP0002429_abnormal_blood_cell1.47299711
81MP0002066_abnormal_motor_capabilities/c1.44919510
82MP0010155_abnormal_intestine_physiology1.43985943
83MP0004142_abnormal_muscle_tone1.41713083
84MP0003690_abnormal_glial_cell1.39115573
85MP0005075_abnormal_melanosome_morpholog1.37345667
86MP0009278_abnormal_bone_marrow1.36067728
87MP0000465_gastrointestinal_hemorrhage1.35041065
88* MP0004883_abnormal_blood_vessel1.34569745
89* MP0003631_nervous_system_phenotype1.33898974
90MP0004742_abnormal_vestibular_system1.32063606
91MP0002882_abnormal_neuron_morphology1.31943716
92MP0003787_abnormal_imprinting1.31602981
93MP0000015_abnormal_ear_pigmentation1.30831441
94MP0002837_dystrophic_cardiac_calcinosis1.28674917
95MP0001851_eye_inflammation1.26163495
96MP0001502_abnormal_circadian_rhythm1.24479772
97MP0009333_abnormal_splenocyte_physiolog1.24078320
98MP0000858_altered_metastatic_potential1.23105173
99MP0002277_abnormal_respiratory_mucosa1.22230251
100MP0008057_abnormal_DNA_replication1.22062669
101MP0001545_abnormal_hematopoietic_system1.18909698
102MP0005397_hematopoietic_system_phenotyp1.18909698
103MP0002006_tumorigenesis1.17066390
104MP0001984_abnormal_olfaction1.16764030
105MP0003183_abnormal_peptide_metabolism1.16551023
106MP0008469_abnormal_protein_level1.16022991
107MP0004510_myositis1.15708271
108MP0002229_neurodegeneration1.11542701
109MP0008874_decreased_physiological_sensi1.10936321
110MP0004043_abnormal_pH_regulation1.09677086
111MP0002998_abnormal_bone_remodeling1.08712359
112MP0009764_decreased_sensitivity_to1.08503234
113MP0004130_abnormal_muscle_cell1.05939478
114MP0001485_abnormal_pinna_reflex1.04406870
115MP0004808_abnormal_hematopoietic_stem1.04287585
116MP0008872_abnormal_physiological_respon1.03604184
117MP0003075_altered_response_to1.03532551
118* MP0003632_abnormal_nervous_system1.02751906
119MP0002009_preneoplasia1.02347128
120MP0002152_abnormal_brain_morphology1.01759535
121MP0006276_abnormal_autonomic_nervous1.01677953
122MP0003634_abnormal_glial_cell1.00740810
123MP0010234_abnormal_vibrissa_follicle0.99892782
124MP0005646_abnormal_pituitary_gland0.99589896
125MP0001905_abnormal_dopamine_level0.98966602
126MP0005174_abnormal_tail_pigmentation0.97045410
127* MP0005164_abnormal_response_to0.94149647
128MP0004484_altered_response_of0.94003926
129MP0005645_abnormal_hypothalamus_physiol0.93854458
130MP0003045_fibrosis0.93340203
131MP0008961_abnormal_basal_metabolism0.91214345
132MP0003221_abnormal_cardiomyocyte_apopto0.91033636
133MP0001963_abnormal_hearing_physiology0.89668142
134MP0000569_abnormal_digit_pigmentation0.88761683
135MP0005167_abnormal_blood-brain_barrier0.87859879
136MP0001177_atelectasis0.87614032
137MP0002069_abnormal_eating/drinking_beha0.81617809
138MP0001986_abnormal_taste_sensitivity0.81306263
139MP0001529_abnormal_vocalization0.79721192
140MP0002332_abnormal_exercise_endurance0.79457363
141MP0003091_abnormal_cell_migration0.78347120
142MP0004215_abnormal_myocardial_fiber0.77225794
143MP0005535_abnormal_body_temperature0.76969593
144MP0005551_abnormal_eye_electrophysiolog0.75892939
145MP0003195_calcinosis0.75860633
146MP0009763_increased_sensitivity_to0.75631905
147MP0008877_abnormal_DNA_methylation0.74717164
148MP0001853_heart_inflammation0.74143809
149MP0003172_abnormal_lysosome_physiology0.72704357
150MP0000751_myopathy0.71087541
151MP0001765_abnormal_ion_homeostasis0.70041400
152* MP0000604_amyloidosis0.69735939
153MP0004085_abnormal_heartbeat0.68671366
154MP0005310_abnormal_salivary_gland0.68489299
155MP0003252_abnormal_bile_duct0.66917128
156MP0003448_altered_tumor_morphology0.66740368
157MP0000013_abnormal_adipose_tissue0.66429848
158MP0001663_abnormal_digestive_system0.65845570
159MP0003303_peritoneal_inflammation0.64985381
160MP0002928_abnormal_bile_duct0.64480754
161MP0002752_abnormal_somatic_nervous0.61884148
162MP0001188_hyperpigmentation0.61225359
163MP0001664_abnormal_digestion0.60966105
164MP0001943_abnormal_respiration0.60520665
165MP0010386_abnormal_urinary_bladder0.60473112
166MP0005388_respiratory_system_phenotype0.60460621
167MP0002133_abnormal_respiratory_system0.60460621
168MP0005058_abnormal_lysosome_morphology0.59917875
169MP0003137_abnormal_impulse_conducting0.59826096
170MP0002693_abnormal_pancreas_physiology0.58270274
171MP0000747_muscle_weakness0.56790689
172MP0009765_abnormal_xenobiotic_induced0.56279439
173* MP0000249_abnormal_blood_vessel0.55829580
174MP0000371_diluted_coat_color0.55219489
175MP0004264_abnormal_extraembryonic_tissu0.54485291
176MP0002019_abnormal_tumor_incidence0.54040062
177MP0005409_darkened_coat_color0.53076729
178MP0005166_decreased_susceptibility_to0.51236794
179MP0001299_abnormal_eye_distance/0.50589761
180MP0010769_abnormal_survival0.50277190
181* MP0005376_homeostasis/metabolism_phenot0.49752584
182MP0005499_abnormal_olfactory_system0.49041518
183MP0005394_taste/olfaction_phenotype0.49041518
184MP0010768_mortality/aging0.46977006
185MP0002876_abnormal_thyroid_physiology0.45887171

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.92544664
2Eczematoid dermatitis (HP:0000976)6.03852718
3Recurrent bacterial skin infections (HP:0005406)5.98239377
4Myokymia (HP:0002411)5.91363948
5Focal seizures (HP:0007359)5.81361722
6Recurrent abscess formation (HP:0002722)5.60140872
7Action tremor (HP:0002345)5.22763045
8Visual hallucinations (HP:0002367)5.20575363
9Atonic seizures (HP:0010819)5.18397966
10Myositis (HP:0100614)5.10457915
11Progressive cerebellar ataxia (HP:0002073)5.07811948
12Optic neuritis (HP:0100653)5.02865920
13Retrobulbar optic neuritis (HP:0100654)5.02865920
14Orchitis (HP:0100796)5.02566102
15Epileptic encephalopathy (HP:0200134)4.83480108
16Febrile seizures (HP:0002373)4.68532528
17T lymphocytopenia (HP:0005403)4.64154388
18Recurrent gram-negative bacterial infections (HP:0005420)4.46166901
19Recurrent fungal infections (HP:0002841)4.43757305
20Parkinsonism with favorable response to dopaminergic medication (HP:0002548)4.39944840
21Abnormality of T cell number (HP:0011839)4.32315498
22Absence seizures (HP:0002121)4.31149637
23Gaze-evoked nystagmus (HP:0000640)4.30450695
24Gastrointestinal infarctions (HP:0005244)4.17194674
25Recurrent skin infections (HP:0001581)4.07248141
26Abnormality of macrophages (HP:0004311)4.03715779
27Stomatitis (HP:0010280)3.99145812
28Dialeptic seizures (HP:0011146)3.97478992
29Scanning speech (HP:0002168)3.89575414
30Elevated erythrocyte sedimentation rate (HP:0003565)3.87305891
31Abnormal delayed hypersensitivity skin test (HP:0002963)3.86812651
32Supranuclear gaze palsy (HP:0000605)3.86072933
33Recurrent cutaneous fungal infections (HP:0011370)3.84580258
34Chronic mucocutaneous candidiasis (HP:0002728)3.84580258
35Dysmetria (HP:0001310)3.83577101
36Broad-based gait (HP:0002136)3.78375862
37Meningitis (HP:0001287)3.77088405
38Mediastinal lymphadenopathy (HP:0100721)3.76706292
39Dysdiadochokinesis (HP:0002075)3.73913844
40Generalized tonic-clonic seizures (HP:0002069)3.73505728
41Gingivitis (HP:0000230)3.69069999
42Keratoconjunctivitis sicca (HP:0001097)3.68822860
43Truncal ataxia (HP:0002078)3.61939835
44Abnormality of binocular vision (HP:0011514)3.61208002
45Diplopia (HP:0000651)3.61208002
46Encephalitis (HP:0002383)3.50185568
47Impaired smooth pursuit (HP:0007772)3.49113814
48Spontaneous hematomas (HP:0007420)3.48965128
49Hemiplegia (HP:0002301)3.47170635
50Intention tremor (HP:0002080)3.44038361
51Gingival bleeding (HP:0000225)3.40777208
52Keratoconjunctivitis (HP:0001096)3.39100213
53Vasculitis (HP:0002633)3.31849752
54Hyperventilation (HP:0002883)3.30049336
55Neurofibrillary tangles (HP:0002185)3.28406245
56Dysmetric saccades (HP:0000641)3.27465621
57Poor eye contact (HP:0000817)3.17545152
58Chronic obstructive pulmonary disease (HP:0006510)3.17441580
59Obstructive lung disease (HP:0006536)3.17441580
60Cerebral inclusion bodies (HP:0100314)3.16857467
61Abnormality of T cells (HP:0002843)3.14842540
62Recurrent viral infections (HP:0004429)3.12028887
63Arterial thrombosis (HP:0004420)3.10923315
64Chest pain (HP:0100749)3.08349980
65Abnormality of ocular smooth pursuit (HP:0000617)3.04832826
66Cellulitis (HP:0100658)3.04177184
67Impaired social interactions (HP:0000735)3.02971706
68Abnormal social behavior (HP:0012433)3.02971706
69Genetic anticipation (HP:0003743)3.00447667
70Depression (HP:0000716)2.97529650
71Postural instability (HP:0002172)2.94838541
72Urticaria (HP:0001025)2.92328754
73Prolonged bleeding time (HP:0003010)2.91991071
74Hemoptysis (HP:0002105)2.91859736
75Leukocytosis (HP:0001974)2.91011433
76Hemiparesis (HP:0001269)2.89435338
77Impaired vibration sensation in the lower limbs (HP:0002166)2.87937796
78Peritonitis (HP:0002586)2.84526212
79Inflammation of the large intestine (HP:0002037)2.83505705
80Pulmonary infiltrates (HP:0002113)2.80684941
81Urinary bladder sphincter dysfunction (HP:0002839)2.79006858
82Subacute progressive viral hepatitis (HP:0006572)2.78825589
83Spastic gait (HP:0002064)2.77044990
84Epistaxis (HP:0000421)2.75525329
85Papilledema (HP:0001085)2.74883502
86Slow saccadic eye movements (HP:0000514)2.74380904
87Abnormality of the corticospinal tract (HP:0002492)2.72417415
88Abnormal eating behavior (HP:0100738)2.71285511
89Pulmonary embolism (HP:0002204)2.71172877
90Gastrointestinal inflammation (HP:0004386)2.68088401
91Amblyopia (HP:0000646)2.66922290
92Colitis (HP:0002583)2.65775545
93Viral hepatitis (HP:0006562)2.65018799
94Anxiety (HP:0000739)2.64377914
95Ankle clonus (HP:0011448)2.63078494
96Urinary urgency (HP:0000012)2.62331727
97Panhypogammaglobulinemia (HP:0003139)2.57661307
98Pustule (HP:0200039)2.57004122
99Status epilepticus (HP:0002133)2.54541494
100Increased IgE level (HP:0003212)2.52367293
101Osteomyelitis (HP:0002754)2.48691981
102Drooling (HP:0002307)2.47316668
103Excessive salivation (HP:0003781)2.47316668
104Anorexia (HP:0002039)2.45719045
105Stereotypic behavior (HP:0000733)2.45000623
106Granulocytopenia (HP:0001913)2.43222516
107Recurrent bronchitis (HP:0002837)2.43129093
108Episodic fever (HP:0001954)2.42842302
109Insidious onset (HP:0003587)2.39208600
110Termporal pattern (HP:0011008)2.39208600
111Abnormality of the lower motor neuron (HP:0002366)2.37540131
112Hypochromic microcytic anemia (HP:0004840)2.35000264
113Eosinophilia (HP:0001880)2.34590264
114Abnormality of saccadic eye movements (HP:0000570)2.33696471
115Neuronal loss in central nervous system (HP:0002529)2.30653147
116Acute hepatic failure (HP:0006554)2.25803148
117Hypochromic anemia (HP:0001931)2.25771986
118Absent speech (HP:0001344)2.24645884
119Abnormality of the peritoneum (HP:0002585)2.23642813
120Progressive inability to walk (HP:0002505)2.23318862
121Annular pancreas (HP:0001734)2.22986748
122Lymphopenia (HP:0001888)2.22859600
123Bradykinesia (HP:0002067)2.21676199
124IgM deficiency (HP:0002850)2.18811037
125Epileptiform EEG discharges (HP:0011182)2.17993107
126Gait ataxia (HP:0002066)2.17840171
127Gangrene (HP:0100758)2.17532974
128Ventricular fibrillation (HP:0001663)2.16963580
129Mutism (HP:0002300)2.16132888
130Megalencephaly (HP:0001355)2.15728559
131Degeneration of the lateral corticospinal tracts (HP:0002314)2.15726837
132Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.15726837
133Abnormality of T cell physiology (HP:0011840)2.14822659
134Sepsis (HP:0100806)2.14572627
135Periodontitis (HP:0000704)2.14164642
136Abnormality of eosinophils (HP:0001879)2.14064338
137Increased circulating renin level (HP:0000848)2.13723943
138Agammaglobulinemia (HP:0004432)2.13382096
139Amyloidosis (HP:0011034)2.13114782
140Psychosis (HP:0000709)2.12729953
141Aqueductal stenosis (HP:0002410)2.11399846
142Abnormality of cells of the lymphoid lineage (HP:0012140)2.10986886
143Abnormality of the pleura (HP:0002103)2.10661472
144Abnormality of the endocardium (HP:0004306)2.09748386
145Abnormality of the fingertips (HP:0001211)2.07576947
146Lower limb asymmetry (HP:0100559)2.07097246
147Postural tremor (HP:0002174)2.07033812
148Peripheral hypomyelination (HP:0007182)2.05002736
149Papilloma (HP:0012740)2.04528465
150Verrucae (HP:0200043)2.04528465
151Limb ataxia (HP:0002070)1.99727678
152Autoimmune hemolytic anemia (HP:0001890)1.99341291
153Resting tremor (HP:0002322)1.99226679
154Impaired vibratory sensation (HP:0002495)1.98880991
155Microcytic anemia (HP:0001935)1.98326583
156EEG with generalized epileptiform discharges (HP:0011198)1.97650498
157Lower limb muscle weakness (HP:0007340)1.94601626
158Pheochromocytoma (HP:0002666)1.93748468
159Cheilitis (HP:0100825)1.93407527
160Hypoplasia of the thymus (HP:0000778)1.91061874
161Glomerulopathy (HP:0100820)1.90084377
162Amyotrophic lateral sclerosis (HP:0007354)1.89639203
163Difficulty running (HP:0009046)1.89535530
164Neoplasm of the tracheobronchial system (HP:0100552)1.89454959
165Vertigo (HP:0002321)1.89261509
166Metabolic alkalosis (HP:0200114)1.89026849
167Incomplete penetrance (HP:0003829)1.87541451
168Stomach cancer (HP:0012126)1.86020664
169Skin ulcer (HP:0200042)1.84948386
170Rapidly progressive (HP:0003678)1.84675745
171Generalized myoclonic seizures (HP:0002123)1.84141694
172Abnormality of salivation (HP:0100755)1.83886975
173Thickened helices (HP:0000391)1.83079495
174Hypsarrhythmia (HP:0002521)1.82720185
175Keratitis (HP:0000491)1.80123097
176Thrombophlebitis (HP:0004418)1.79726449
177Abnormal platelet volume (HP:0011876)1.79057246
178Rigidity (HP:0002063)1.78366989
179Chronic diarrhea (HP:0002028)1.78002772
180Horizontal nystagmus (HP:0000666)1.75382896
181Clumsiness (HP:0002312)1.73990212
182Widely spaced teeth (HP:0000687)1.71713709
183Acne (HP:0001061)1.70443285
184Inability to walk (HP:0002540)1.68946272
185Chronic otitis media (HP:0000389)1.68945499
186Fetal akinesia sequence (HP:0001989)1.68663228
187Inappropriate behavior (HP:0000719)1.68615423
188Pointed chin (HP:0000307)1.68279570
189Papillary thyroid carcinoma (HP:0002895)1.68230064
190Tetraplegia (HP:0002445)1.67115217
191Slow progression (HP:0003677)1.66810261
192Onion bulb formation (HP:0003383)1.65014577
193Aplasia involving bones of the extremities (HP:0009825)1.65003487
194Aplasia involving bones of the upper limbs (HP:0009823)1.65003487
195Aplasia of the phalanges of the hand (HP:0009802)1.65003487

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK34.29277669
2MAP3K93.86911470
3EPHA43.81417382
4RIPK43.34095207
5BLK3.05869592
6MAP4K13.02935998
7MAP3K42.74076916
8IRAK42.58463294
9TYK22.52609472
10CSK2.48424913
11MAP2K32.46580977
12DAPK22.32338526
13MINK12.17814891
14KSR22.06018887
15PNCK1.97538896
16MAP2K71.97291958
17JAK31.91473573
18PAK61.89306525
19IKBKE1.88572482
20TXK1.87124886
21TAOK31.82031386
22BTK1.81555063
23NTRK11.81480562
24OXSR11.81292237
25MAP2K41.75880229
26MAP3K141.73618382
27JAK11.72198037
28MAP3K131.72179131
29CDK191.71547181
30CAMKK11.70790349
31CAMKK21.70760701
32NTRK21.68666078
33MAP3K121.68194465
34ZAP701.66439613
35FGFR31.64139507
36HCK1.55873816
37WNK11.55625460
38CASK1.54795037
39FES1.53577550
40ERN11.49991418
41JAK21.46916428
42ITK1.44235158
43YES11.44111981
44CDK51.40530164
45DAPK11.36378520
46STK381.34979117
47SIK21.34917132
48IRAK11.30520725
49GRK51.29739671
50LYN1.27605474
51PRPF4B1.26630099
52STK391.24345165
53MARK11.24250217
54CAMK1G1.21534280
55MAP3K31.20983750
56CSF1R1.20277578
57PIK3CG1.19649167
58KSR11.19108498
59SGK2231.17465123
60SGK4941.17465123
61TEC1.16357232
62MAP3K21.16053917
63FGFR41.14345557
64PLK21.13392725
65LCK1.11809913
66CAMK2B1.10512013
67IRAK21.09477262
68TYRO31.09190804
69PRKD31.08139420
70PRKCH1.07759458
71FGR1.07485446
72NLK1.06491472
73STK111.05973834
74PRKCG1.05143901
75BMPR21.04006307
76SGK21.03012705
77PTK2B1.00797631
78ARAF1.00639019
79RIPK10.99855201
80SGK30.99336370
81CAMK2A0.95942809
82TNIK0.95451587
83GRK60.94890794
84LMTK20.94882636
85FRK0.93459326
86CAMK10.90938359
87PDK10.90878216
88MAP3K110.84855080
89MATK0.83677052
90PDPK10.83151762
91TNK20.82970646
92MARK30.82381752
93UHMK10.82347903
94SGK10.82331016
95RET0.80395463
96TBK10.79718348
97KIT0.78889912
98TGFBR20.76785471
99EPHB10.76768704
100ALK0.74791904
101PTK60.74548441
102PIM10.73818889
103FGFR20.73766758
104MAPK130.73408337
105LRRK20.73326443
106STK100.73248738
107CDK150.71402132
108CDK180.70829362
109MAP3K100.70022172
110STK40.68925405
111RAF10.68883113
112FYN0.67562867
113CDK120.66779186
114PHKG10.66248605
115PHKG20.66248605
116CDK140.63724328
117IKBKB0.63592483
118HIPK20.63153244
119CAMK2D0.62771668
120MARK20.62140204
121CAMK2G0.61752219
122DYRK1A0.60645756
123CDK11A0.60401752
124CDC42BPA0.60101760
125MAP3K50.59752761
126MAP3K70.59530715
127MAPK120.58419961
128EPHA30.57334491
129DMPK0.56945891
130MAPK70.54161830
131MAP3K10.53589747
132PRKCQ0.51652890
133ERBB20.50892060
134CAMK40.48802760
135TAOK10.47985797
136CSNK1G20.47593411
137RPS6KA30.47004963
138PRKCE0.46384549
139MAPKAPK50.46366106
140TRPM70.45737162
141WNK40.44618745
142NEK60.44489103
143PAK30.43937186
144MAPK100.41610574
145DYRK1B0.41482050
146CDK60.39627943
147MAP2K60.38690933
148PRKCZ0.35914574
149MAP3K60.35796366
150PINK10.35579822
151PRKG10.35276821
152FER0.34674512
153AKT30.34059963
154SYK0.33308494
155PKN10.31979146

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050333.63729071
2Long-term potentiation_Homo sapiens_hsa047202.87992578
3Leishmaniasis_Homo sapiens_hsa051402.82804880
4Synaptic vesicle cycle_Homo sapiens_hsa047212.65846703
5Glutamatergic synapse_Homo sapiens_hsa047242.63062059
6Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.61525853
7Circadian entrainment_Homo sapiens_hsa047132.54427836
8Staphylococcus aureus infection_Homo sapiens_hsa051502.48118562
9GABAergic synapse_Homo sapiens_hsa047272.39408182
10Salivary secretion_Homo sapiens_hsa049702.38065276
11Morphine addiction_Homo sapiens_hsa050322.31344004
12Amphetamine addiction_Homo sapiens_hsa050312.22215232
13Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.13713630
14Olfactory transduction_Homo sapiens_hsa047402.11657782
15Gastric acid secretion_Homo sapiens_hsa049712.07656192
16Long-term depression_Homo sapiens_hsa047301.99015946
17Tuberculosis_Homo sapiens_hsa051521.96603412
18Primary immunodeficiency_Homo sapiens_hsa053401.94063261
19Taste transduction_Homo sapiens_hsa047421.91666714
20Toll-like receptor signaling pathway_Homo sapiens_hsa046201.90615319
21Dopaminergic synapse_Homo sapiens_hsa047281.90535622
22Graft-versus-host disease_Homo sapiens_hsa053321.80173573
23Insulin secretion_Homo sapiens_hsa049111.79404401
24NOD-like receptor signaling pathway_Homo sapiens_hsa046211.74706609
25Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.73987981
26Allograft rejection_Homo sapiens_hsa053301.73949292
27Aldosterone synthesis and secretion_Homo sapiens_hsa049251.73632399
28Measles_Homo sapiens_hsa051621.72920989
29Cholinergic synapse_Homo sapiens_hsa047251.65405735
30Autoimmune thyroid disease_Homo sapiens_hsa053201.64832803
31Renin secretion_Homo sapiens_hsa049241.63198193
32NF-kappa B signaling pathway_Homo sapiens_hsa040641.62655671
33Acute myeloid leukemia_Homo sapiens_hsa052211.60793218
34Calcium signaling pathway_Homo sapiens_hsa040201.57446153
35Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.56525539
36Oxytocin signaling pathway_Homo sapiens_hsa049211.55916188
37Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.55338291
38Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.54582712
39Phosphatidylinositol signaling system_Homo sapiens_hsa040701.53527233
40Serotonergic synapse_Homo sapiens_hsa047261.48389787
41Toxoplasmosis_Homo sapiens_hsa051451.43139395
42Type I diabetes mellitus_Homo sapiens_hsa049401.41913353
43Jak-STAT signaling pathway_Homo sapiens_hsa046301.39978752
44GnRH signaling pathway_Homo sapiens_hsa049121.39812018
45Hematopoietic cell lineage_Homo sapiens_hsa046401.37070854
46Influenza A_Homo sapiens_hsa051641.35743682
47Legionellosis_Homo sapiens_hsa051341.34037930
48Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.33753953
49Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.32373519
50cAMP signaling pathway_Homo sapiens_hsa040241.31013739
51Malaria_Homo sapiens_hsa051441.30554895
52Collecting duct acid secretion_Homo sapiens_hsa049661.29056201
53Type II diabetes mellitus_Homo sapiens_hsa049301.27230830
54RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.24918765
55Pancreatic secretion_Homo sapiens_hsa049721.24774059
56Cocaine addiction_Homo sapiens_hsa050301.23950862
57Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.23611906
58Hepatitis B_Homo sapiens_hsa051611.21798835
59Estrogen signaling pathway_Homo sapiens_hsa049151.20014552
60Leukocyte transendothelial migration_Homo sapiens_hsa046701.19863569
61Antigen processing and presentation_Homo sapiens_hsa046121.17624402
62Gap junction_Homo sapiens_hsa045401.17508004
63Prolactin signaling pathway_Homo sapiens_hsa049171.16594594
64Pancreatic cancer_Homo sapiens_hsa052121.16533811
65Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.12130205
66TNF signaling pathway_Homo sapiens_hsa046681.11452637
67cGMP-PKG signaling pathway_Homo sapiens_hsa040221.10972413
68Chronic myeloid leukemia_Homo sapiens_hsa052201.09511085
69Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.05851162
70Hepatitis C_Homo sapiens_hsa051601.05771594
71Herpes simplex infection_Homo sapiens_hsa051681.03102562
72FoxO signaling pathway_Homo sapiens_hsa040681.02984874
73Thyroid hormone synthesis_Homo sapiens_hsa049181.02874644
74Dorso-ventral axis formation_Homo sapiens_hsa043201.01863693
75Intestinal immune network for IgA production_Homo sapiens_hsa046721.01741457
76Glioma_Homo sapiens_hsa052140.97221722
77Phospholipase D signaling pathway_Homo sapiens_hsa040720.95957639
78Apoptosis_Homo sapiens_hsa042100.94884539
79Phagosome_Homo sapiens_hsa041450.94524886
80Viral myocarditis_Homo sapiens_hsa054160.93619089
81Vascular smooth muscle contraction_Homo sapiens_hsa042700.92846858
82ErbB signaling pathway_Homo sapiens_hsa040120.92253380
83Carbohydrate digestion and absorption_Homo sapiens_hsa049730.90371098
84Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.90138988
85Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.90078294
86Axon guidance_Homo sapiens_hsa043600.88467610
87Inositol phosphate metabolism_Homo sapiens_hsa005620.86544694
88Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.86410682
89Melanogenesis_Homo sapiens_hsa049160.86324407
90Nitrogen metabolism_Homo sapiens_hsa009100.85963888
91Choline metabolism in cancer_Homo sapiens_hsa052310.84819130
92AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.84007571
93VEGF signaling pathway_Homo sapiens_hsa043700.82238865
94Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.80284517
95Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.78718685
96Cardiac muscle contraction_Homo sapiens_hsa042600.78015805
97Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.77773718
98MAPK signaling pathway_Homo sapiens_hsa040100.77092033
99Vibrio cholerae infection_Homo sapiens_hsa051100.75519800
100Asthma_Homo sapiens_hsa053100.74901394
101Pertussis_Homo sapiens_hsa051330.73285265
102HIF-1 signaling pathway_Homo sapiens_hsa040660.72084369
103Neurotrophin signaling pathway_Homo sapiens_hsa047220.69903694
104Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.69251085
105Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.68098867
106Sphingolipid signaling pathway_Homo sapiens_hsa040710.67369510
107Notch signaling pathway_Homo sapiens_hsa043300.67136830
108Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.66620560
109Adipocytokine signaling pathway_Homo sapiens_hsa049200.66442099
110Insulin resistance_Homo sapiens_hsa049310.65385897
111Colorectal cancer_Homo sapiens_hsa052100.62394770
112Chemokine signaling pathway_Homo sapiens_hsa040620.61688347
113Prostate cancer_Homo sapiens_hsa052150.61598893
114Oocyte meiosis_Homo sapiens_hsa041140.61158952
115Dilated cardiomyopathy_Homo sapiens_hsa054140.61157078
116Viral carcinogenesis_Homo sapiens_hsa052030.60809751
117Rap1 signaling pathway_Homo sapiens_hsa040150.60542901
118Other glycan degradation_Homo sapiens_hsa005110.57847477
119Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.57332083
120B cell receptor signaling pathway_Homo sapiens_hsa046620.56836341
121Endocytosis_Homo sapiens_hsa041440.55759585
122Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.55295838
123Thyroid hormone signaling pathway_Homo sapiens_hsa049190.54370064
124African trypanosomiasis_Homo sapiens_hsa051430.54198226
125Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.51221430
126mTOR signaling pathway_Homo sapiens_hsa041500.51018742
127Ras signaling pathway_Homo sapiens_hsa040140.50050165
128Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.49659545
129Mineral absorption_Homo sapiens_hsa049780.49469561
130Salmonella infection_Homo sapiens_hsa051320.49022278
131Bile secretion_Homo sapiens_hsa049760.48490843
132Non-small cell lung cancer_Homo sapiens_hsa052230.48206417
133Shigellosis_Homo sapiens_hsa051310.47875340
134Circadian rhythm_Homo sapiens_hsa047100.47371301
135Glucagon signaling pathway_Homo sapiens_hsa049220.46969154
136Epstein-Barr virus infection_Homo sapiens_hsa051690.46789238
137SNARE interactions in vesicular transport_Homo sapiens_hsa041300.46072046
138Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.45812143
139Renal cell carcinoma_Homo sapiens_hsa052110.44848251
140Amoebiasis_Homo sapiens_hsa051460.43335679
141Platelet activation_Homo sapiens_hsa046110.43322089
142Regulation of autophagy_Homo sapiens_hsa041400.41748482
143Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.37670401
144T cell receptor signaling pathway_Homo sapiens_hsa046600.36758776
145Phototransduction_Homo sapiens_hsa047440.35998483
146Regulation of actin cytoskeleton_Homo sapiens_hsa048100.34701672
147Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.34249729
148Longevity regulating pathway - mammal_Homo sapiens_hsa042110.34187368
149Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.30747865
150Glycerophospholipid metabolism_Homo sapiens_hsa005640.30386459
151Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.30119017
152Insulin signaling pathway_Homo sapiens_hsa049100.29154440
153Wnt signaling pathway_Homo sapiens_hsa043100.29109265
154Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.28593774
155Alzheimers disease_Homo sapiens_hsa050100.28072815
156Osteoclast differentiation_Homo sapiens_hsa043800.27932518
157Endometrial cancer_Homo sapiens_hsa052130.27483068

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