MCOLN1

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 memberof the transient receptor potential (TRP) cation channel gene family. The transmembrane protein localizes to intracellular vesicular membranes including lysosomes, and functions in the late endocytic pathway and in the regulation of lysosomal exocytosis. The channel is permeable to Ca(2+), Fe(2+), Na(+), K(+), and H(+), and is modulated by changes in Ca(2+) concentration. Mutations in this gene result in mucolipidosis type IV. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1negative regulation of interleukin-12 production (GO:0032695)4.79593926
2response to peptidoglycan (GO:0032494)4.56382779
3response to pheromone (GO:0019236)4.54754269
4neutrophil activation involved in immune response (GO:0002283)4.20368288
5amino sugar catabolic process (GO:0046348)4.08514862
6macrophage activation involved in immune response (GO:0002281)3.91163281
7immunoglobulin mediated immune response (GO:0016064)3.73422821
8regulation of short-term neuronal synaptic plasticity (GO:0048172)3.67874017
9cerebellar Purkinje cell differentiation (GO:0021702)3.59734340
10negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.53430626
11negative regulation of cell killing (GO:0031342)3.53430626
12lipopolysaccharide-mediated signaling pathway (GO:0031663)3.52036764
13regulation of mast cell degranulation (GO:0043304)3.44868300
14granulocyte activation (GO:0036230)3.44692950
15G-protein coupled receptor internalization (GO:0002031)3.42343743
16N-acetylneuraminate metabolic process (GO:0006054)3.38340236
17glycosphingolipid catabolic process (GO:0046479)3.35584126
18synaptic vesicle endocytosis (GO:0048488)3.30605123
19regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act3.28430684
20phagosome maturation (GO:0090382)3.24577260
21regulation of mast cell activation involved in immune response (GO:0033006)3.24054878
22positive regulation of mast cell degranulation (GO:0043306)3.20106126
23positive regulation of mast cell activation involved in immune response (GO:0033008)3.20106126
24positive regulation of antigen processing and presentation (GO:0002579)3.19413929
25histone H3-K4 trimethylation (GO:0080182)3.18774146
26positive regulation of mast cell activation (GO:0033005)3.18395808
27neutrophil activation (GO:0042119)3.17710864
28positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.15450037
29regulation of mononuclear cell migration (GO:0071675)3.15278158
30positive regulation of gamma-delta T cell activation (GO:0046645)3.15198670
31regulation of mast cell activation (GO:0033003)3.11019255
32regulation of interferon-beta biosynthetic process (GO:0045357)3.09997427
33macrophage activation (GO:0042116)3.06902774
34cellular extravasation (GO:0045123)3.06321875
35negative regulation of cytokine production involved in immune response (GO:0002719)3.05338606
36NIK/NF-kappaB signaling (GO:0038061)3.04993769
37negative regulation of nitric oxide biosynthetic process (GO:0045019)3.03724645
38oligosaccharide catabolic process (GO:0009313)2.98811335
39ionotropic glutamate receptor signaling pathway (GO:0035235)2.97749023
40positive regulation of chemokine biosynthetic process (GO:0045080)2.97031841
41regulation of leukocyte degranulation (GO:0043300)2.95680723
42glycolipid catabolic process (GO:0019377)2.95283022
43ceramide catabolic process (GO:0046514)2.91936738
44regulation of myeloid leukocyte mediated immunity (GO:0002886)2.91665389
45myeloid cell activation involved in immune response (GO:0002275)2.90851471
46detection of other organism (GO:0098543)2.86869780
47regulation of antigen processing and presentation (GO:0002577)2.86361341
48negative regulation of interleukin-6 production (GO:0032715)2.85773134
49positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.85543378
50germinal center formation (GO:0002467)2.84736110
51regulation of ARF protein signal transduction (GO:0032012)2.84606269
52macroautophagy (GO:0016236)2.83389622
53negative regulation of interleukin-1 production (GO:0032692)2.82798852
54phosphatidylglycerol biosynthetic process (GO:0006655)2.82477147
55negative regulation of tumor necrosis factor production (GO:0032720)2.80832984
56regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.80552777
57histone H3-K4 methylation (GO:0051568)2.80342050
58regulation of glutamate receptor signaling pathway (GO:1900449)2.79891355
59regulation of tumor necrosis factor biosynthetic process (GO:0042534)2.77937273
60adhesion of symbiont to host cell (GO:0044650)2.77529775
61virion attachment to host cell (GO:0019062)2.77529775
62glutamate secretion (GO:0014047)2.75044245
63lysosome organization (GO:0007040)2.74630212
64lytic vacuole organization (GO:0080171)2.74630212
65negative regulation of tumor necrosis factor superfamily cytokine production (GO:1903556)2.73007874
66regulation of chemokine biosynthetic process (GO:0045073)2.72689797
67positive regulation of leukocyte degranulation (GO:0043302)2.72459258
68modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.71311528
69modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.71311528
70positive regulation by organism of defense response of other organism involved in symbiotic interact2.71311528
71modulation by symbiont of host immune response (GO:0052553)2.71311528
72positive regulation by symbiont of host defense response (GO:0052509)2.71311528
73modulation by symbiont of host defense response (GO:0052031)2.71311528
74vocalization behavior (GO:0071625)2.70452436
75detection of bacterium (GO:0016045)2.69107746
76detection of external biotic stimulus (GO:0098581)2.68255031
77microglial cell activation (GO:0001774)2.67749223
78T-helper 1 type immune response (GO:0042088)2.67458966
79negative regulation of interleukin-1 beta production (GO:0032691)2.67386725
80defense response to protozoan (GO:0042832)2.66314722
81positive regulation of monocyte chemotaxis (GO:0090026)2.66111558
82locomotory exploration behavior (GO:0035641)2.65523166
83positive regulation of myeloid leukocyte mediated immunity (GO:0002888)2.64093979
84righting reflex (GO:0060013)2.64043717
85synaptic vesicle maturation (GO:0016188)2.63374648
86regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.63302078
87glutamate receptor signaling pathway (GO:0007215)2.62872032
88G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.61412430
89interferon-gamma-mediated signaling pathway (GO:0060333)2.61282889
90negative regulation of hormone biosynthetic process (GO:0032353)2.60569168
91negative regulation of hormone metabolic process (GO:0032351)2.60569168
92response to protozoan (GO:0001562)2.59451269
93mannose metabolic process (GO:0006013)2.58034451
94hydrogen peroxide biosynthetic process (GO:0050665)2.57794301
95sphingolipid catabolic process (GO:0030149)2.56322919
96cellular response to type I interferon (GO:0071357)2.54947565
97type I interferon signaling pathway (GO:0060337)2.54947565
98B cell mediated immunity (GO:0019724)2.54191862
99regulation of regulated secretory pathway (GO:1903305)2.54069395
100negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.53541152
101positive regulation of NF-kappaB import into nucleus (GO:0042346)2.53346059
102negative regulation of innate immune response (GO:0045824)2.53283935
103negative regulation of translation involved in gene silencing by miRNA (GO:0035278)2.53214602
104negative regulation of translation, ncRNA-mediated (GO:0040033)2.53214602
105regulation of translation, ncRNA-mediated (GO:0045974)2.53214602
106regulation of synapse maturation (GO:0090128)2.53187287
107glycine transport (GO:0015816)2.53133063
108response to type I interferon (GO:0034340)2.52629949
109fibroblast migration (GO:0010761)2.52560696
110cellular potassium ion homeostasis (GO:0030007)2.52412800
111membrane lipid catabolic process (GO:0046466)2.51851780
112cellular response to thyroid hormone stimulus (GO:0097067)2.47965589
113regulation of tumor necrosis factor superfamily cytokine production (GO:1903555)2.47038124
114positive regulation of interleukin-17 production (GO:0032740)2.46385680
115antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.46111354
116positive regulation of heat generation (GO:0031652)2.45649616
117L-amino acid import (GO:0043092)2.44625792
118regulation of interleukin-6 production (GO:0032675)2.43331592
119synaptic vesicle docking involved in exocytosis (GO:0016081)2.43265850
120membrane depolarization during action potential (GO:0086010)2.42954435
121respiratory burst (GO:0045730)2.42720631
122detection of biotic stimulus (GO:0009595)2.41979547
123synaptic transmission, glutamatergic (GO:0035249)2.41864771
124negative regulation of myeloid cell apoptotic process (GO:0033033)2.41584049
125negative regulation of production of molecular mediator of immune response (GO:0002701)2.41536578
126lymphocyte chemotaxis (GO:0048247)2.41481686
127female gonad development (GO:0008585)2.41008695
128antigen processing and presentation of endogenous antigen (GO:0019883)2.40594849
129positive regulation of cellular amide metabolic process (GO:0034250)2.40419554
130regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.40349260
131cellular anion homeostasis (GO:0030002)2.38927841
132membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.38716885
133peptidyl-lysine trimethylation (GO:0018023)2.38506559
134neutrophil mediated immunity (GO:0002446)2.38350506
135myeloid leukocyte activation (GO:0002274)2.38237064
136regulation of tumor necrosis factor production (GO:0032680)2.38181126
137regulation of dendritic cell antigen processing and presentation (GO:0002604)2.38065410
138regulation of T-helper 2 cell differentiation (GO:0045628)2.37547649
139response to muramyl dipeptide (GO:0032495)2.37363211
140synaptic vesicle exocytosis (GO:0016079)2.32205870
141alanine transport (GO:0032328)2.31758772
142regulation of clathrin-mediated endocytosis (GO:2000369)2.30799529
143histone lysine demethylation (GO:0070076)2.30673768
144proline transport (GO:0015824)2.28398574
145modulation by virus of host process (GO:0019054)2.26710921
146dendrite morphogenesis (GO:0048813)2.24838489
147negative regulation of granulocyte differentiation (GO:0030853)2.24252271
148detection of molecule of bacterial origin (GO:0032490)2.24119600
149response to auditory stimulus (GO:0010996)2.21596362
150response to host immune response (GO:0052572)2.20552663
151response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.20552663
152prostate gland growth (GO:0060736)2.19128927
153histone lysine methylation (GO:0034968)2.18637449
154regulation of synaptic transmission, glutamatergic (GO:0051966)2.18323677
155positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.18177382
156neurotransmitter-gated ion channel clustering (GO:0072578)2.17645967
157Golgi to endosome transport (GO:0006895)2.17451206
158protein localization to synapse (GO:0035418)2.16613326
159positive regulation of CREB transcription factor activity (GO:0032793)2.16142590
160negative regulation of keratinocyte proliferation (GO:0010839)2.16032627
161adult walking behavior (GO:0007628)2.15946114
162glycerophospholipid catabolic process (GO:0046475)2.15933774
163histone H3-K36 demethylation (GO:0070544)2.15519544
164regulation of excitatory postsynaptic membrane potential (GO:0060079)2.15227441
165positive regulation of fibroblast migration (GO:0010763)2.14535324
166membrane hyperpolarization (GO:0060081)2.13789958
167histone demethylation (GO:0016577)2.12587066
168cAMP-mediated signaling (GO:0019933)2.10687668
169positive regulation of protein dephosphorylation (GO:0035307)2.09818252
170negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.09324501
171positive regulation of synapse maturation (GO:0090129)2.08776679
172regulation of postsynaptic membrane potential (GO:0060078)2.08435296
173central nervous system projection neuron axonogenesis (GO:0021952)2.08225809
174long-term memory (GO:0007616)2.07966287
175stress granule assembly (GO:0034063)2.07341785
176gamma-aminobutyric acid signaling pathway (GO:0007214)2.06969459
177sphingosine metabolic process (GO:0006670)2.06315147
178regulation of synaptic vesicle transport (GO:1902803)2.06223498
179gamma-aminobutyric acid transport (GO:0015812)2.05097999
180modulation by symbiont of host cellular process (GO:0044068)2.04845843
181neuron-neuron synaptic transmission (GO:0007270)2.04481163
182cell differentiation in hindbrain (GO:0021533)2.04427390
183membrane depolarization (GO:0051899)2.03831897
184striatum development (GO:0021756)2.02322076
185protein demethylation (GO:0006482)2.02192954
186protein dealkylation (GO:0008214)2.02192954
187regulation of neuronal synaptic plasticity (GO:0048168)2.01537244
188regulation of synapse structural plasticity (GO:0051823)2.01396195
189response to host (GO:0075136)1.99557690
190response to host defenses (GO:0052200)1.99557690
191response to defenses of other organism involved in symbiotic interaction (GO:0052173)1.99557690

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human4.94950918
2BP1_19119308_ChIP-ChIP_Hs578T_Human4.28395991
3IRF8_21731497_ChIP-ChIP_J774_Mouse3.88213452
4GBX2_23144817_ChIP-Seq_PC3_Human3.40786318
5EZH2_22144423_ChIP-Seq_EOC_Human3.22023766
6NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.99390499
7IRF8_27001747_Chip-Seq_BMDM_Mouse2.87893287
8SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.74116355
9MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.66410221
10RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.65922440
11ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.56988644
12DROSHA_22980978_ChIP-Seq_HELA_Human2.54649873
13LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.29379410
14NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.28894961
15VDR_21846776_ChIP-Seq_THP-1_Human2.26882174
16SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.21820538
17MEIS1_20887958_ChIP-Seq_HPC-7_Mouse2.18019348
18IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.16898142
19VDR_24763502_ChIP-Seq_THP-1_Human2.13328416
20STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.11386117
21RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.09254148
22LXR_22292898_ChIP-Seq_THP-1_Human2.07749782
23SPI1_23127762_ChIP-Seq_K562_Human2.05319445
24LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.94179332
25EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.89171270
26GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.87575844
27BCL6_27268052_Chip-Seq_Bcells_Human1.87486821
28E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.86104558
29* SPI1_23547873_ChIP-Seq_NB4_Human1.81293725
30JARID2_20064375_ChIP-Seq_MESCs_Mouse1.76446144
31VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.76299937
32EZH2_18974828_ChIP-Seq_MESCs_Mouse1.76134827
33RNF2_18974828_ChIP-Seq_MESCs_Mouse1.76134827
34SMAD_19615063_ChIP-ChIP_OVARY_Human1.75723986
35SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.75213295
36STAT4_19710469_ChIP-ChIP_TH1__Mouse1.74976282
37BCOR_27268052_Chip-Seq_Bcells_Human1.74176612
38SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.73201310
39ELK3_25401928_ChIP-Seq_HUVEC_Human1.72777737
40IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.71258856
41THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.71251910
42MYB_21317192_ChIP-Seq_ERMYB_Mouse1.69773438
43ELF1_20517297_ChIP-Seq_JURKAT_Human1.69668308
44CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.66926578
45RUNX1_22412390_ChIP-Seq_EML_Mouse1.65458796
46GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.64601284
47* SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.64486857
48VDR_24787735_ChIP-Seq_THP-1_Human1.63750218
49KDM2B_26808549_Chip-Seq_SUP-B15_Human1.61512195
50SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.61321913
51GATA1_19941827_ChIP-Seq_MEL_Mouse1.60041851
52BRD4_27068464_Chip-Seq_AML-cells_Mouse1.59993757
53REST_21632747_ChIP-Seq_MESCs_Mouse1.59712294
54* MTF2_20144788_ChIP-Seq_MESCs_Mouse1.59386733
55BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.58793709
56SCL_19346495_ChIP-Seq_HPC-7_Human1.56240265
57PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.55699612
58SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.54505893
59CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.54413445
60SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.53285885
61FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.53043888
62EZH2_27294783_Chip-Seq_ESCs_Mouse1.52883348
63JARID2_20075857_ChIP-Seq_MESCs_Mouse1.52378152
64CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.49571198
65GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.47037244
66RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.46954577
67RNF2_27304074_Chip-Seq_ESCs_Mouse1.45132158
68STAT3_23295773_ChIP-Seq_U87_Human1.45002713
69PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.43641673
70TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.43276097
71CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.42772410
72* P68_20966046_ChIP-Seq_HELA_Human1.42020217
73SUZ12_27294783_Chip-Seq_ESCs_Mouse1.41329138
74RARG_19884340_ChIP-ChIP_MEFs_Mouse1.40364598
75AR_21572438_ChIP-Seq_LNCaP_Human1.38926358
76EED_16625203_ChIP-ChIP_MESCs_Mouse1.38876710
77PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.38538441
78CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.38508880
79CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.37830061
80ZNF217_24962896_ChIP-Seq_MCF-7_Human1.37710527
81AHR_22903824_ChIP-Seq_MCF-7_Human1.37105393
82CDX2_19796622_ChIP-Seq_MESCs_Mouse1.37086635
83MAF_26560356_Chip-Seq_TH2_Human1.37057162
84SMAD4_21799915_ChIP-Seq_A2780_Human1.36657645
85ZFP57_27257070_Chip-Seq_ESCs_Mouse1.36582961
86TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.36187740
87MAF_26560356_Chip-Seq_TH1_Human1.35059274
88AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.35013269
89SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.33531091
90PIAS1_25552417_ChIP-Seq_VCAP_Human1.33209543
91POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.33153312
92TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.33153312
93CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.33135774
94NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.32638120
95UTX_26944678_Chip-Seq_JUKART_Human1.32064940
96SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.31208114
97EZH2_27304074_Chip-Seq_ESCs_Mouse1.30913943
98KDM2B_26808549_Chip-Seq_DND41_Human1.30592165
99IGF1R_20145208_ChIP-Seq_DFB_Human1.30209362
100IKZF1_21737484_ChIP-ChIP_HCT116_Human1.29670644
101RARB_27405468_Chip-Seq_BRAIN_Mouse1.28753804
102* TFEB_21752829_ChIP-Seq_HELA_Human1.25632803
103TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.24872077
104PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.23980210
105ARNT_22903824_ChIP-Seq_MCF-7_Human1.23530941
106STAT1_20625510_ChIP-Seq_HELA_Human1.23221080
107SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.22920078
108SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.22155158
109EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.21874032
110GATA1_19941826_ChIP-Seq_K562_Human1.20755378
111NANOG_18555785_Chip-Seq_ESCs_Mouse1.20739291
112SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.20614915
113SUZ12_27294783_Chip-Seq_NPCs_Mouse1.20251458
114E2F1_20622854_ChIP-Seq_HELA_Human1.20172929
115CTCF_27219007_Chip-Seq_ERYTHROID_Human1.19750445
116* AR_19668381_ChIP-Seq_PC3_Human1.19572120
117GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.17894576
118TCF4_23295773_ChIP-Seq_U87_Human1.17845303
119WT1_25993318_ChIP-Seq_PODOCYTE_Human1.17058047
120SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.16710353
121GATA1_26923725_Chip-Seq_HPCs_Mouse1.16407430
122P300_19829295_ChIP-Seq_ESCs_Human1.16350868
123SA1_27219007_Chip-Seq_Bcells_Human1.15555449
124CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.15532662
125SOX2_21211035_ChIP-Seq_LN229_Gbm1.15359232
126CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.14874853
127KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.14843867
128FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.14694807
129MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.13930151
130SA1_27219007_Chip-Seq_ERYTHROID_Human1.13495424
131PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.11588431
132Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.11504729
133CTCF_20526341_ChIP-Seq_ESCs_Human1.10806455
134PU.1_20513432_ChIP-Seq_Bcells_Mouse1.10398630
135CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.10361441
136P53_22127205_ChIP-Seq_FIBROBLAST_Human1.10012227
137TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.09982937
138SPI1_20517297_ChIP-Seq_HL60_Human1.09018041
139PCGF2_27294783_Chip-Seq_ESCs_Mouse1.08847192
140PHF8_20622854_ChIP-Seq_HELA_Human1.08819660
141AR_25329375_ChIP-Seq_VCAP_Human1.08734394
142NFE2_27457419_Chip-Seq_LIVER_Mouse1.08205823
143KDM2B_26808549_Chip-Seq_K562_Human1.07718434
144NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.07526961
145VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.07200517
146ELK4_26923725_Chip-Seq_MESODERM_Mouse1.06837886
147STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.06691495
148SMAD4_21741376_ChIP-Seq_HESCs_Human1.06438573
149REST_18959480_ChIP-ChIP_MESCs_Mouse1.06416261
150CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.05546858
151GATA1_22383799_ChIP-Seq_G1ME_Mouse1.05281442
152PPARA_22158963_ChIP-Seq_LIVER_Mouse1.05264644
153EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.05251266
154SRY_22984422_ChIP-ChIP_TESTIS_Rat1.05210555
155PCGF2_27294783_Chip-Seq_NPCs_Mouse1.05184852
156DNAJC2_21179169_ChIP-ChIP_NT2_Human1.04628698
157CTCF_26484167_Chip-Seq_Bcells_Mouse1.04132414
158SMAD3_21741376_ChIP-Seq_HESCs_Human1.03961627
159YAP1_20516196_ChIP-Seq_MESCs_Mouse1.03934160
160STAT6_21828071_ChIP-Seq_BEAS2B_Human1.03790072
161RUNX_20019798_ChIP-Seq_JUKART_Human1.02333908
162E2F1_18555785_Chip-Seq_ESCs_Mouse1.02293282
163* TET1_21451524_ChIP-Seq_MESCs_Mouse1.01402325
164SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.00881715
165STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.00484847
166RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.99137213
167RXR_22108803_ChIP-Seq_LS180_Human0.99006069
168GATA2_22383799_ChIP-Seq_G1ME_Mouse0.98574158
169SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.98539097
170NR3C1_21868756_ChIP-Seq_MCF10A_Human0.98468787
171SMC4_20622854_ChIP-Seq_HELA_Human0.98310742
172RXR_22158963_ChIP-Seq_LIVER_Mouse0.98005963
173MYB_26560356_Chip-Seq_TH2_Human0.97462193
174TAF15_26573619_Chip-Seq_HEK293_Human0.96697850
175CMYC_18555785_Chip-Seq_ESCs_Mouse0.96624648
176NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.96608925
177TP53_16413492_ChIP-PET_HCT116_Human0.96498064
178P53_22387025_ChIP-Seq_ESCs_Mouse0.96482855
179P300_27268052_Chip-Seq_Bcells_Human0.96374638
180BMI1_23680149_ChIP-Seq_NPCS_Mouse0.95861145
181TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.95731736
182CTNNB1_20460455_ChIP-Seq_HCT116_Human0.95018714
183CTBP2_25329375_ChIP-Seq_LNCAP_Human0.94148168
184RNF2_16625203_ChIP-ChIP_MESCs_Mouse0.93698682
185SMAD2/3_21741376_ChIP-Seq_EPCs_Human0.93046452
186SUZ12_18555785_Chip-Seq_ESCs_Mouse0.92454749
187LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse0.92317934
188POU3F2_20337985_ChIP-ChIP_501MEL_Human0.91928090
189CTBP1_25329375_ChIP-Seq_LNCAP_Human0.91511715
190GATA2_21666600_ChIP-Seq_HMVEC_Human0.91311533
191EZH2_27294783_Chip-Seq_NPCs_Mouse0.90948431
192SMAD3_21741376_ChIP-Seq_ESCs_Human0.90797797
193FLI1_27457419_Chip-Seq_LIVER_Mouse0.90764962
194STAT3_18555785_Chip-Seq_ESCs_Mouse0.90745826
195MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse0.90000721

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation6.42801808
2MP0004859_abnormal_synaptic_plasticity4.42609103
3MP0003303_peritoneal_inflammation3.87212485
4MP0006082_CNS_inflammation3.46020833
5MP0009840_abnormal_foam_cell3.33089188
6MP0003724_increased_susceptibility_to3.26927884
7MP0003436_decreased_susceptibility_to3.19511885
8MP0002148_abnormal_hypersensitivity_rea2.93992036
9MP0003172_abnormal_lysosome_physiology2.91529990
10MP0003787_abnormal_imprinting2.79442928
11MP0002419_abnormal_innate_immunity2.73181581
12MP0005646_abnormal_pituitary_gland2.68135119
13MP0009785_altered_susceptibility_to2.65764780
14MP0001835_abnormal_antigen_presentation2.56636740
15MP0008961_abnormal_basal_metabolism2.53315202
16MP0001486_abnormal_startle_reflex2.45567481
17MP0003283_abnormal_digestive_organ2.43382630
18MP0002102_abnormal_ear_morphology2.43303245
19MP0005025_abnormal_response_to2.37601016
20MP0003635_abnormal_synaptic_transmissio2.35072098
21MP0005671_abnormal_response_to2.30801827
22MP0009046_muscle_twitch2.30636503
23MP0005000_abnormal_immune_tolerance2.28309739
24MP0005645_abnormal_hypothalamus_physiol2.28101192
25MP0005387_immune_system_phenotype2.26078653
26MP0001790_abnormal_immune_system2.26078653
27MP0001984_abnormal_olfaction2.20156444
28MP0000566_synostosis2.19068857
29MP0005423_abnormal_somatic_nervous2.15092645
30MP0009764_decreased_sensitivity_to2.14262512
31MP0000604_amyloidosis2.08992259
32MP0003075_altered_response_to2.07590816
33MP0000343_altered_response_to2.04764179
34MP0001533_abnormal_skeleton_physiology2.03591539
35MP0001502_abnormal_circadian_rhythm1.98833683
36MP0006292_abnormal_olfactory_placode1.98219857
37MP0003191_abnormal_cellular_cholesterol1.94743180
38MP0005167_abnormal_blood-brain_barrier1.94361291
39MP0000685_abnormal_immune_system1.93712711
40MP0002452_abnormal_antigen_presenting1.93214870
41MP0002723_abnormal_immune_serum1.92207964
42MP0005451_abnormal_body_composition1.82358813
43MP0002063_abnormal_learning/memory/cond1.81976368
44MP0009278_abnormal_bone_marrow1.81473212
45MP0002064_seizures1.76351735
46MP0002653_abnormal_ependyma_morphology1.75278351
47MP0005670_abnormal_white_adipose1.74973811
48MP0002254_reproductive_system_inflammat1.74398576
49MP0001800_abnormal_humoral_immune1.73198359
50MP0002420_abnormal_adaptive_immunity1.69812228
51MP0001819_abnormal_immune_cell1.68577740
52MP0002572_abnormal_emotion/affect_behav1.68017531
53MP0003300_gastrointestinal_ulcer1.67503482
54MP0000778_abnormal_nervous_system1.67348872
55MP0002735_abnormal_chemical_nociception1.66406070
56MP0009745_abnormal_behavioral_response1.65489007
57MP0003806_abnormal_nucleotide_metabolis1.64026327
58MP0001845_abnormal_inflammatory_respons1.56270960
59MP0005058_abnormal_lysosome_morphology1.53777936
60MP0005551_abnormal_eye_electrophysiolog1.53656362
61MP0008469_abnormal_protein_level1.51154598
62MP0003656_abnormal_erythrocyte_physiolo1.50692649
63MP0002998_abnormal_bone_remodeling1.49120271
64MP0002557_abnormal_social/conspecific_i1.48840719
65MP0003880_abnormal_central_pattern1.48367962
66MP0006054_spinal_hemorrhage1.47838071
67MP0001968_abnormal_touch/_nociception1.47793182
68MP0005464_abnormal_platelet_physiology1.46355523
69* MP0002067_abnormal_sensory_capabilities1.44140426
70MP0000015_abnormal_ear_pigmentation1.43460911
71MP0003183_abnormal_peptide_metabolism1.42818333
72MP0002405_respiratory_system_inflammati1.42158595
73MP0009333_abnormal_splenocyte_physiolog1.41833108
74MP0002184_abnormal_innervation1.41216003
75MP0001501_abnormal_sleep_pattern1.40474538
76MP0003329_amyloid_beta_deposits1.38718012
77MP0002734_abnormal_mechanical_nocicepti1.37107248
78MP0005365_abnormal_bile_salt1.36534422
79MP0003879_abnormal_hair_cell1.36524667
80MP0006276_abnormal_autonomic_nervous1.36250376
81MP0001545_abnormal_hematopoietic_system1.35636462
82MP0005397_hematopoietic_system_phenotyp1.35636462
83MP0004510_myositis1.34846583
84MP0003045_fibrosis1.34536806
85MP0008569_lethality_at_weaning1.34444010
86MP0004742_abnormal_vestibular_system1.31135855
87MP0003868_abnormal_feces_composition1.30744021
88MP0002736_abnormal_nociception_after1.29947971
89MP0001440_abnormal_grooming_behavior1.29668048
90MP0008260_abnormal_autophagy1.29580015
91MP0002272_abnormal_nervous_system1.28876494
92MP0004270_analgesia1.27972619
93MP0004947_skin_inflammation1.26764816
94MP0002139_abnormal_hepatobiliary_system1.26619939
95MP0002837_dystrophic_cardiac_calcinosis1.20481484
96MP0000579_abnormal_nail_morphology1.19208611
97MP0000955_abnormal_spinal_cord1.14940572
98MP0003122_maternal_imprinting1.14713817
99MP0010386_abnormal_urinary_bladder1.14185487
100MP0000716_abnormal_immune_system1.13895020
101MP0003121_genomic_imprinting1.12028501
102MP0001188_hyperpigmentation1.11879528
103MP0005166_decreased_susceptibility_to1.11639026
104MP0002882_abnormal_neuron_morphology1.11467816
105MP0002332_abnormal_exercise_endurance1.10996061
106MP0002138_abnormal_hepatobiliary_system1.08854359
107MP0005257_abnormal_intraocular_pressure1.06832976
108MP0003252_abnormal_bile_duct1.06171042
109MP0010155_abnormal_intestine_physiology1.05306208
110MP0001853_heart_inflammation1.05161663
111MP0004381_abnormal_hair_follicle1.04950956
112MP0000371_diluted_coat_color1.04811443
113MP0004858_abnormal_nervous_system1.03644729
114MP0003195_calcinosis1.02176903
115MP0002928_abnormal_bile_duct1.00609644
116MP0005390_skeleton_phenotype0.99745111
117MP0005386_behavior/neurological_phenoty0.99163727
118MP0004924_abnormal_behavior0.99163727
119MP0000858_altered_metastatic_potential0.98932929
120MP0008995_early_reproductive_senescence0.96912795
121MP0002733_abnormal_thermal_nociception0.96371368
122MP0001542_abnormal_bone_strength0.95309982
123MP0003828_pulmonary_edema0.94985237
124MP0005174_abnormal_tail_pigmentation0.94948026
125MP0003279_aneurysm0.93443750
126MP0000383_abnormal_hair_follicle0.93365254
127MP0003448_altered_tumor_morphology0.93099928
128MP0000920_abnormal_myelination0.90507560
129MP0002229_neurodegeneration0.90300431
130MP0003646_muscle_fatigue0.90035451
131MP0003186_abnormal_redox_activity0.89614476
132MP0003091_abnormal_cell_migration0.89137292
133MP0002429_abnormal_blood_cell0.87458424
134MP0008004_abnormal_stomach_pH0.87240172
135MP0001970_abnormal_pain_threshold0.86839354
136MP0002398_abnormal_bone_marrow0.86250348
137MP0005075_abnormal_melanosome_morpholog0.86069681
138MP0000689_abnormal_spleen_morphology0.85256678
139MP0001529_abnormal_vocalization0.84068790
140MP0005164_abnormal_response_to0.83965984
141* MP0002066_abnormal_motor_capabilities/c0.83495705
142MP0000462_abnormal_digestive_system0.82395749
143MP0004142_abnormal_muscle_tone0.82321053
144* MP0002752_abnormal_somatic_nervous0.82099769
145MP0004885_abnormal_endolymph0.81982742
146MP0001324_abnormal_eye_pigmentation0.81773532
147MP0002234_abnormal_pharynx_morphology0.80578650
148* MP0002152_abnormal_brain_morphology0.80512334
149MP0004811_abnormal_neuron_physiology0.80276595
150MP0002069_abnormal_eating/drinking_beha0.79256917
151MP0009763_increased_sensitivity_to0.78782803
152MP0001299_abnormal_eye_distance/0.78446868
153MP0003699_abnormal_female_reproductive0.77183978
154MP0002933_joint_inflammation0.75105223
155MP0005319_abnormal_enzyme/_coenzyme0.73926098
156MP0005394_taste/olfaction_phenotype0.73694680
157MP0005499_abnormal_olfactory_system0.73694680
158MP0001963_abnormal_hearing_physiology0.72774070
159MP0003795_abnormal_bone_structure0.72019129
160MP0005197_abnormal_uvea_morphology0.71333645
161MP0000026_abnormal_inner_ear0.71206995
162MP0002722_abnormal_immune_system0.70443777
163MP0008874_decreased_physiological_sensi0.70271555
164MP0001663_abnormal_digestive_system0.69556321
165MP0002168_other_aberrant_phenotype0.69355218
166MP0005595_abnormal_vascular_smooth0.68935234
167MP0005165_increased_susceptibility_to0.68480928
168MP0004145_abnormal_muscle_electrophysio0.67059701
169MP0003690_abnormal_glial_cell0.66977409
170MP0002090_abnormal_vision0.66621135
171MP0005310_abnormal_salivary_gland0.66573698
172MP0000249_abnormal_blood_vessel0.66507022
173MP0003453_abnormal_keratinocyte_physiol0.65594271
174MP0002089_abnormal_postnatal_growth/wei0.65292506
175MP0004883_abnormal_blood_vessel0.65190742
176* MP0003632_abnormal_nervous_system0.65134969
177MP0005360_urolithiasis0.64614457
178MP0005535_abnormal_body_temperature0.63888298
179MP0001764_abnormal_homeostasis0.60102556
180MP0001986_abnormal_taste_sensitivity0.59997068
181MP0009765_abnormal_xenobiotic_induced0.59300518
182MP0002693_abnormal_pancreas_physiology0.58872762

Predicted human phenotypes

RankGene SetZ-score
1* Abnormality of glycolipid metabolism (HP:0010969)6.83037941
2* Abnormality of liposaccharide metabolism (HP:0010968)6.83037941
3* Abnormality of glycosphingolipid metabolism (HP:0004343)6.83037941
4Increased cerebral lipofuscin (HP:0011813)5.37397470
5Vacuolated lymphocytes (HP:0001922)5.22673364
6Dysostosis multiplex (HP:0000943)4.86255786
7Increased neuronal autofluorescent lipopigment (HP:0002074)4.74689353
8Abnormality of macrophages (HP:0004311)4.68327279
9Febrile seizures (HP:0002373)4.67230967
10Chromosomal breakage induced by crosslinking agents (HP:0003221)4.39087591
11Loss of speech (HP:0002371)4.30571469
12Systemic lupus erythematosus (HP:0002725)4.09632928
13Stomatitis (HP:0010280)3.96819000
14Recurrent bacterial skin infections (HP:0005406)3.94343535
15Myositis (HP:0100614)3.94231576
16Recurrent abscess formation (HP:0002722)3.93662729
17Orchitis (HP:0100796)3.86203418
18Mucopolysacchariduria (HP:0008155)3.82167414
19* Abnormality of mucopolysaccharide metabolism (HP:0011020)3.82167414
20Urinary glycosaminoglycan excretion (HP:0003541)3.82167414
21* Abnormality of polysaccharide metabolism (HP:0011012)3.82167414
22* Abnormality of glycosaminoglycan metabolism (HP:0004371)3.82167414
23Chromsome breakage (HP:0040012)3.62044024
24Retrobulbar optic neuritis (HP:0100654)3.61544563
25Optic neuritis (HP:0100653)3.61544563
26Focal motor seizures (HP:0011153)3.46925041
27Disinhibition (HP:0000734)3.36682773
28Prostate neoplasm (HP:0100787)3.34010708
29Eczematoid dermatitis (HP:0000976)3.26190642
30Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)3.08143301
31Elevated erythrocyte sedimentation rate (HP:0003565)3.04657088
32Focal seizures (HP:0007359)3.04339382
33Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)3.03343431
34Recurrent gram-negative bacterial infections (HP:0005420)2.96102351
35Mediastinal lymphadenopathy (HP:0100721)2.93380961
36Progressive neurologic deterioration (HP:0002344)2.85991819
37Congenital stationary night blindness (HP:0007642)2.83877535
38Hematochezia (HP:0002573)2.81691865
39Autoimmune thrombocytopenia (HP:0001973)2.78628707
40Abnormality of the fingertips (HP:0001211)2.78013428
41Increased serum ferritin (HP:0003281)2.77807422
42Progressive cerebellar ataxia (HP:0002073)2.76894522
43Amyloidosis (HP:0011034)2.74572916
44Anosmia (HP:0000458)2.73035325
45Petechiae (HP:0000967)2.70883209
46Nuclear cataract (HP:0100018)2.68893882
47Chronic obstructive pulmonary disease (HP:0006510)2.67944241
48Obstructive lung disease (HP:0006536)2.67944241
49Genetic anticipation (HP:0003743)2.66978960
50Neurofibrillary tangles (HP:0002185)2.66429396
51Axonal loss (HP:0003447)2.57912726
52Albinism (HP:0001022)2.56403967
53Pulmonary infiltrates (HP:0002113)2.53846688
54Recurrent skin infections (HP:0001581)2.49732532
55Purpura (HP:0000979)2.49607017
56Epileptic encephalopathy (HP:0200134)2.49045195
57Recurrent fungal infections (HP:0002841)2.47943400
58Hemoptysis (HP:0002105)2.46749787
59Prolonged neonatal jaundice (HP:0006579)2.46641421
60Diminished motivation (HP:0000745)2.46160836
61Keratoconjunctivitis sicca (HP:0001097)2.45234941
62Keratoconjunctivitis (HP:0001096)2.41735001
63Abnormality of iron homeostasis (HP:0011031)2.41063715
64Hepatosplenomegaly (HP:0001433)2.37841452
65Apathy (HP:0000741)2.37752908
66J-shaped sella turcica (HP:0002680)2.37543781
67Heterotopia (HP:0002282)2.32894685
68Drooling (HP:0002307)2.19959277
69Excessive salivation (HP:0003781)2.19959277
70Abnormality of lateral ventricle (HP:0030047)2.19795701
71Supranuclear gaze palsy (HP:0000605)2.19583782
72Episodic fever (HP:0001954)2.18571853
73Gaze-evoked nystagmus (HP:0000640)2.17902725
74Elfin facies (HP:0004428)2.17403919
75Increased CSF protein (HP:0002922)2.15013503
76Spontaneous hematomas (HP:0007420)2.14268514
77Urticaria (HP:0001025)2.13538955
78Lower limb amyotrophy (HP:0007210)2.13353078
79Abnormality of transition element cation homeostasis (HP:0011030)2.13166033
80Mask-like facies (HP:0000298)2.12997529
81Distal lower limb amyotrophy (HP:0008944)2.11180612
82Increased IgM level (HP:0003496)2.10029320
83Vasculitis (HP:0002633)2.09382453
84Lip pit (HP:0100267)2.09020734
85Action tremor (HP:0002345)2.08723970
86Generalized hypopigmentation of hair (HP:0011358)2.08659086
87Pustule (HP:0200039)2.08578794
88Postural instability (HP:0002172)2.08505647
89Upper motor neuron abnormality (HP:0002127)2.07361323
90Mesangial abnormality (HP:0001966)2.06749422
91Recurrent cutaneous fungal infections (HP:0011370)2.03987502
92Chronic mucocutaneous candidiasis (HP:0002728)2.03987502
93Abnormal delayed hypersensitivity skin test (HP:0002963)2.03239783
94Turricephaly (HP:0000262)2.03200468
95Meningitis (HP:0001287)2.03191939
96Glomerulonephritis (HP:0000099)2.03074688
97Polyphagia (HP:0002591)2.03027386
98Dementia (HP:0000726)2.02603757
99Asymmetric septal hypertrophy (HP:0001670)2.02469192
100Encephalitis (HP:0002383)1.99379998
101Urinary bladder sphincter dysfunction (HP:0002839)1.98398955
102Aplasia/Hypoplasia of the macula (HP:0008059)1.96611291
103Cardiomegaly (HP:0001640)1.96470429
104Generalized tonic-clonic seizures (HP:0002069)1.94610292
105Ectopic kidney (HP:0000086)1.94411374
106Hip dysplasia (HP:0001385)1.94267186
107Global brain atrophy (HP:0002283)1.93925481
108Narrow nasal bridge (HP:0000446)1.93886557
109Severe visual impairment (HP:0001141)1.91623363
110Polyneuropathy (HP:0001271)1.91102744
111Decreased central vision (HP:0007663)1.90973528
112Abnormality of the pericardium (HP:0001697)1.90626601
113Inappropriate behavior (HP:0000719)1.89638882
114Conjugated hyperbilirubinemia (HP:0002908)1.89044775
115Tetany (HP:0001281)1.88403982
116Hypoplasia of the fovea (HP:0007750)1.86394026
117Aplasia/Hypoplasia of the fovea (HP:0008060)1.86394026
118Anal stenosis (HP:0002025)1.86251347
119Papillary thyroid carcinoma (HP:0002895)1.86082103
120Urethral obstruction (HP:0000796)1.85852378
121Cerebral inclusion bodies (HP:0100314)1.85673821
122Abnormality of macular pigmentation (HP:0008002)1.85512204
123Anorexia (HP:0002039)1.84956886
124Vertebral compression fractures (HP:0002953)1.84168055
125Hemiplegia (HP:0002301)1.83955760
126Renovascular hypertension (HP:0100817)1.83147364
127Oligodactyly (hands) (HP:0001180)1.82588931
128Myokymia (HP:0002411)1.82552319
129Narrow palate (HP:0000189)1.81934267
130Growth hormone deficiency (HP:0000824)1.79430289
131Acne (HP:0001061)1.78769875
132Gastrointestinal infarctions (HP:0005244)1.77409845
133Abnormality of the periventricular white matter (HP:0002518)1.76970082
134Joint stiffness (HP:0001387)1.76963072
135Onion bulb formation (HP:0003383)1.76872252
136Oligodontia (HP:0000677)1.76838474
137Fair hair (HP:0002286)1.76790309
138Generalized hypopigmentation (HP:0007513)1.76166701
139Myocardial infarction (HP:0001658)1.75976186
140Chronic hepatic failure (HP:0100626)1.75524212
141Abnormality of the pleura (HP:0002103)1.75266911
142Protruding tongue (HP:0010808)1.74693542
143Pathologic fracture (HP:0002756)1.74482618
144Aplasia/Hypoplasia affecting the retina (HP:0008061)1.73993637
145Atonic seizures (HP:0010819)1.73543634
146Iris hypopigmentation (HP:0007730)1.72720622
147Status epilepticus (HP:0002133)1.70839927
148Tented upper lip vermilion (HP:0010804)1.70802430
149Dysmetria (HP:0001310)1.70586019
150Slow saccadic eye movements (HP:0000514)1.70354712
151Upper limb muscle weakness (HP:0003484)1.70125183
152Leukocytosis (HP:0001974)1.68157436
153Aplasia/Hypoplasia of the uvula (HP:0010293)1.68037590
154Septo-optic dysplasia (HP:0100842)1.67962614
155Neuronal loss in central nervous system (HP:0002529)1.67804782
156Sleep apnea (HP:0010535)1.67324665
157Ankle clonus (HP:0011448)1.67183422
158Chest pain (HP:0100749)1.66513340
159Mutism (HP:0002300)1.66286035
160Abnormality of the renal collecting system (HP:0004742)1.65599915
161Impaired social interactions (HP:0000735)1.65588585
162Abnormal social behavior (HP:0012433)1.65588585
163Agitation (HP:0000713)1.65355917
164Vertigo (HP:0002321)1.64734188
165Dyschromatopsia (HP:0007641)1.64555004
166Epistaxis (HP:0000421)1.64480963
167Abnormality of the carotid arteries (HP:0005344)1.64344307
168Macroorchidism (HP:0000053)1.62877711
169Abnormality of the fovea (HP:0000493)1.61721930
170Abnormal eating behavior (HP:0100738)1.61100473
171Retinal atrophy (HP:0001105)1.61099918
172Ocular albinism (HP:0001107)1.60582171
173Abolished electroretinogram (ERG) (HP:0000550)1.59072920
174Abnormality of salivation (HP:0100755)1.58470045
175Failure to thrive in infancy (HP:0001531)1.57954260
176Spinal canal stenosis (HP:0003416)1.57839804
177Long eyelashes (HP:0000527)1.56813389
178Small hand (HP:0200055)1.56337487
179Arterial tortuosity (HP:0005116)1.55756544
180Long toe (HP:0010511)1.55483684
181Trigonocephaly (HP:0000243)1.55220027
182Broad-based gait (HP:0002136)1.55089092
183Confusion (HP:0001289)1.54661915
184Poor eye contact (HP:0000817)1.54603952
185Gingivitis (HP:0000230)1.54512343
186Acute lymphatic leukemia (HP:0006721)1.54274532
187Dysdiadochokinesis (HP:0002075)1.53636523
188Abnormality of DNA repair (HP:0003254)1.52129393
189Exotropia (HP:0000577)1.52068012
190Depressed nasal tip (HP:0000437)1.50842929
191Abnormal hair whorl (HP:0010721)1.50665397
192Central scotoma (HP:0000603)1.50147129
193Hypogonadotrophic hypogonadism (HP:0000044)1.49537012
194Duplicated collecting system (HP:0000081)1.48505012

Predicted kinase interactions (KEA)

RankGene SetZ-score
1SIK33.47043106
2MAP3K113.14505357
3MAP3K132.98330929
4SIK22.83481247
5CDK122.77537269
6CAMK1D2.76701206
7MAP3K92.73967352
8LATS12.59736910
9MAP4K12.57892513
10CAMK1G2.53972654
11PRPF4B2.52383407
12BLK2.47323480
13TAOK32.46966295
14MAP2K32.37396142
15TBK12.26767205
16NTRK32.18871464
17MAP3K32.17771437
18TESK22.13952918
19TGFBR22.07210624
20GRK72.07011203
21ADRBK22.01395375
22BRD41.99758232
23STK381.97207773
24TXK1.83862504
25IKBKB1.77136055
26NME21.75209510
27INSRR1.74768121
28MAP3K41.63208445
29PAK61.61981107
30EPHA41.60489489
31MATK1.59783095
32CSK1.59143948
33FGR1.58373202
34MAP3K61.53847957
35SGK21.49230770
36BCKDK1.45911177
37ZAP701.42651975
38MAP2K71.41825303
39KSR11.40300615
40MARK21.38479674
41LATS21.37702580
42TNIK1.32951985
43ERBB41.32904139
44MAP2K61.29696691
45SGK4941.27996283
46SGK2231.27996283
47TAOK21.27913528
48ABL21.26922908
49NTRK21.26682084
50RIPK41.25856821
51SIK11.25552587
52SGK31.22712729
53DAPK21.21991635
54TESK11.21930219
55PIM21.19999040
56RIPK11.18464895
57ACVR1B1.14718603
58GRK61.12680216
59FRK1.09674088
60SYK1.07961987
61IRAK31.07709489
62STK38L1.02755884
63KDR1.02138750
64CSF1R1.01556219
65LYN0.99905843
66MAP2K40.99860703
67CAMKK20.97933283
68DDR20.96867057
69TAOK10.96444722
70MAPK130.95773821
71ERN10.90842878
72JAK10.89011947
73IRAK20.87442084
74EPHB10.85329775
75CAMK40.84181730
76PTK2B0.82620091
77MUSK0.82241822
78SGK10.82196036
79PRKAA20.80690309
80ICK0.78978294
81NEK60.77075643
82CDK30.76730256
83PINK10.76090119
84LIMK10.75910551
85GRK10.75556930
86MINK10.75548982
87MARK10.75037479
88MAP3K70.74181958
89IRAK40.73184200
90LCK0.72904508
91PRKCH0.72598185
92MAP4K20.71613824
93PRKG20.71489228
94MAPKAPK30.70995411
95CDC42BPA0.69761865
96CAMK10.69759696
97PRKD20.69006529
98KSR20.67382587
99PDPK10.66686818
100TNK20.66281468
101MAPK70.65571231
102PRKAA10.65294797
103JAK20.63419972
104TYRO30.63328906
105HIPK20.60542076
106CDK50.59896992
107HCK0.59852745
108ADRBK10.59577318
109BTK0.58540215
110IKBKE0.57604563
111FES0.57093030
112EPHB20.56606984
113* MAPK100.55000505
114PDK10.54356536
115CAMKK10.54319384
116MAP3K50.54282951
117MOS0.53496447
118RPS6KA20.52637622
119RPS6KA60.51843057
120IRAK10.51823198
121CDK90.51677659
122DMPK0.51073743
123DYRK1A0.48531501
124RPS6KC10.47093044
125RPS6KL10.47093044
126ERBB20.46924524
127CSNK1G30.44871941
128PTK20.43620972
129WNK10.42884598
130ZAK0.42741678
131JAK30.41699017
132KIT0.41050698
133MAPK120.40599907
134CSNK1A1L0.39595514
135PRKCZ0.39512916
136MAP3K10.39431360
137CHUK0.38479181
138CAMK2A0.38034447
139PRKD30.37820512
140STK110.37508060
141TYK20.37390550
142ARAF0.37322946
143TGFBR10.37202083
144MAPK80.36384978
145GRK50.36178189
146ITK0.35648621
147STK100.35051759
148MTOR0.35050768
149FGFR40.34963488
150NUAK10.34866577
151ABL10.34412954
152BMPR20.33823478
153PRKCQ0.33804177
154MARK30.33536926
155GSK3B0.33371494
156MAP3K140.32806891
157PDGFRB0.32056882
158PRKD10.32048986
159AKT20.31750232
160RPS6KA30.31129968

Predicted pathways (KEGG)

RankGene SetZ-score
1Rheumatoid arthritis_Homo sapiens_hsa053232.75692759
2Nicotine addiction_Homo sapiens_hsa050332.54053734
3Leishmaniasis_Homo sapiens_hsa051402.23609590
4Allograft rejection_Homo sapiens_hsa053302.14871743
5Malaria_Homo sapiens_hsa051442.08026363
6Graft-versus-host disease_Homo sapiens_hsa053322.03751828
7Synaptic vesicle cycle_Homo sapiens_hsa047212.02332872
8Asthma_Homo sapiens_hsa053101.99537053
9Pertussis_Homo sapiens_hsa051331.89689173
10NOD-like receptor signaling pathway_Homo sapiens_hsa046211.82521148
11Autoimmune thyroid disease_Homo sapiens_hsa053201.80579421
12Intestinal immune network for IgA production_Homo sapiens_hsa046721.78261419
13Phagosome_Homo sapiens_hsa041451.78155170
14Lysine degradation_Homo sapiens_hsa003101.77749770
15Morphine addiction_Homo sapiens_hsa050321.76004975
16Olfactory transduction_Homo sapiens_hsa047401.75057505
17NF-kappa B signaling pathway_Homo sapiens_hsa040641.69956461
18Glutamatergic synapse_Homo sapiens_hsa047241.68300338
19Phosphatidylinositol signaling system_Homo sapiens_hsa040701.64509306
20Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.63648144
21Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.63464358
22Type I diabetes mellitus_Homo sapiens_hsa049401.60967456
23GABAergic synapse_Homo sapiens_hsa047271.56720516
24Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.55719579
25Legionellosis_Homo sapiens_hsa051341.49894110
26Circadian entrainment_Homo sapiens_hsa047131.49315965
27RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.49224972
28Insulin secretion_Homo sapiens_hsa049111.48925784
29Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.48788753
30Type II diabetes mellitus_Homo sapiens_hsa049301.48526776
31Aldosterone synthesis and secretion_Homo sapiens_hsa049251.43808834
32Other glycan degradation_Homo sapiens_hsa005111.42286734
33Salmonella infection_Homo sapiens_hsa051321.38891609
34Hematopoietic cell lineage_Homo sapiens_hsa046401.38629378
35African trypanosomiasis_Homo sapiens_hsa051431.37190743
36Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.36871443
37Antigen processing and presentation_Homo sapiens_hsa046121.33684057
38Taste transduction_Homo sapiens_hsa047421.28988309
39Toxoplasmosis_Homo sapiens_hsa051451.22722616
40GnRH signaling pathway_Homo sapiens_hsa049121.22017721
41Glycosaminoglycan degradation_Homo sapiens_hsa005311.20678045
42Cholinergic synapse_Homo sapiens_hsa047251.19366512
43Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.17569274
44ABC transporters_Homo sapiens_hsa020101.13795011
45Inositol phosphate metabolism_Homo sapiens_hsa005621.12719749
46Ovarian steroidogenesis_Homo sapiens_hsa049131.12035517
47Choline metabolism in cancer_Homo sapiens_hsa052311.11975376
48Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.11719725
49Phototransduction_Homo sapiens_hsa047441.11677739
50Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.10720292
51Cocaine addiction_Homo sapiens_hsa050301.08068566
52Salivary secretion_Homo sapiens_hsa049701.07377215
53Dorso-ventral axis formation_Homo sapiens_hsa043201.06946366
54Serotonergic synapse_Homo sapiens_hsa047261.06322311
55Circadian rhythm_Homo sapiens_hsa047101.05880514
56SNARE interactions in vesicular transport_Homo sapiens_hsa041301.03901015
57Influenza A_Homo sapiens_hsa051641.03888131
58Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.02417147
59Vibrio cholerae infection_Homo sapiens_hsa051101.02383999
60Phospholipase D signaling pathway_Homo sapiens_hsa040721.02321154
61Primary immunodeficiency_Homo sapiens_hsa053401.00923479
62Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.00578066
63cAMP signaling pathway_Homo sapiens_hsa040241.00437573
64Dopaminergic synapse_Homo sapiens_hsa047280.98632882
65ErbB signaling pathway_Homo sapiens_hsa040120.97807466
66Calcium signaling pathway_Homo sapiens_hsa040200.97543277
67Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.97147143
68Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.93331870
69Bile secretion_Homo sapiens_hsa049760.90350557
70Oxytocin signaling pathway_Homo sapiens_hsa049210.88976569
71Sphingolipid metabolism_Homo sapiens_hsa006000.87707324
72Viral myocarditis_Homo sapiens_hsa054160.86360714
73Caffeine metabolism_Homo sapiens_hsa002320.85404858
74Herpes simplex infection_Homo sapiens_hsa051680.84962158
75Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.84720523
76Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.84314269
77Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.83956950
78Longevity regulating pathway - mammal_Homo sapiens_hsa042110.83653455
79Amphetamine addiction_Homo sapiens_hsa050310.82797392
80B cell receptor signaling pathway_Homo sapiens_hsa046620.81319671
81Shigellosis_Homo sapiens_hsa051310.81122918
82Carbohydrate digestion and absorption_Homo sapiens_hsa049730.81051816
83Axon guidance_Homo sapiens_hsa043600.80414707
84Pancreatic cancer_Homo sapiens_hsa052120.80026478
85Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.79816568
86Thyroid hormone signaling pathway_Homo sapiens_hsa049190.77362231
87Long-term potentiation_Homo sapiens_hsa047200.77073160
88Glycerophospholipid metabolism_Homo sapiens_hsa005640.75715441
89* Lysosome_Homo sapiens_hsa041420.75097903
90Hepatitis C_Homo sapiens_hsa051600.74724961
91Jak-STAT signaling pathway_Homo sapiens_hsa046300.74406495
92Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.74260636
93Gastric acid secretion_Homo sapiens_hsa049710.74084202
94Complement and coagulation cascades_Homo sapiens_hsa046100.73924374
95Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.73232986
96Glioma_Homo sapiens_hsa052140.71659519
97Mineral absorption_Homo sapiens_hsa049780.70940988
98Measles_Homo sapiens_hsa051620.70674092
99Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.70173695
100Prolactin signaling pathway_Homo sapiens_hsa049170.70002734
101Long-term depression_Homo sapiens_hsa047300.68909862
102MAPK signaling pathway_Homo sapiens_hsa040100.68869838
103Notch signaling pathway_Homo sapiens_hsa043300.68860140
104Regulation of autophagy_Homo sapiens_hsa041400.67610281
105Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.67448029
106Bladder cancer_Homo sapiens_hsa052190.67105184
107Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.65369640
108Prion diseases_Homo sapiens_hsa050200.64131689
109Estrogen signaling pathway_Homo sapiens_hsa049150.63762600
110Osteoclast differentiation_Homo sapiens_hsa043800.63731951
111Neurotrophin signaling pathway_Homo sapiens_hsa047220.63216719
112Acute myeloid leukemia_Homo sapiens_hsa052210.62990488
113Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.62857069
114Dilated cardiomyopathy_Homo sapiens_hsa054140.61998980
115Endometrial cancer_Homo sapiens_hsa052130.61619040
116Ras signaling pathway_Homo sapiens_hsa040140.61597232
117Toll-like receptor signaling pathway_Homo sapiens_hsa046200.61324736
118Chemokine signaling pathway_Homo sapiens_hsa040620.61125685
119Adipocytokine signaling pathway_Homo sapiens_hsa049200.60917883
120Apoptosis_Homo sapiens_hsa042100.60901908
121Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.60601470
122Ether lipid metabolism_Homo sapiens_hsa005650.59338885
123Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.59203617
124Collecting duct acid secretion_Homo sapiens_hsa049660.57561715
125cGMP-PKG signaling pathway_Homo sapiens_hsa040220.56929147
126Endocytosis_Homo sapiens_hsa041440.54036968
127Chronic myeloid leukemia_Homo sapiens_hsa052200.53414566
128TNF signaling pathway_Homo sapiens_hsa046680.52742806
129Melanogenesis_Homo sapiens_hsa049160.51475194
130Rap1 signaling pathway_Homo sapiens_hsa040150.51303636
131Primary bile acid biosynthesis_Homo sapiens_hsa001200.50901741
132Hepatitis B_Homo sapiens_hsa051610.50773915
133Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.50694154
134Renin secretion_Homo sapiens_hsa049240.50520959
135Tuberculosis_Homo sapiens_hsa051520.50277730
136Sphingolipid signaling pathway_Homo sapiens_hsa040710.50147064
137Basal cell carcinoma_Homo sapiens_hsa052170.49876696
138Staphylococcus aureus infection_Homo sapiens_hsa051500.49733815
139T cell receptor signaling pathway_Homo sapiens_hsa046600.49605896
140Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.47821373
141FoxO signaling pathway_Homo sapiens_hsa040680.47154461
142Amoebiasis_Homo sapiens_hsa051460.47126623
143mTOR signaling pathway_Homo sapiens_hsa041500.46218268
144Arginine biosynthesis_Homo sapiens_hsa002200.46188345
145Arachidonic acid metabolism_Homo sapiens_hsa005900.44098619
146Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.43729141
147Glucagon signaling pathway_Homo sapiens_hsa049220.43615105
148Gap junction_Homo sapiens_hsa045400.43439797
149Sulfur metabolism_Homo sapiens_hsa009200.42592420
150Galactose metabolism_Homo sapiens_hsa000520.42017220
151Vitamin digestion and absorption_Homo sapiens_hsa049770.41766747
152MicroRNAs in cancer_Homo sapiens_hsa052060.41177856
153VEGF signaling pathway_Homo sapiens_hsa043700.40611231
154Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.40598047
155Renal cell carcinoma_Homo sapiens_hsa052110.40299533
156Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.39632178
157Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.39304495
158Insulin signaling pathway_Homo sapiens_hsa049100.38779633
159Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.35060273
160PPAR signaling pathway_Homo sapiens_hsa033200.34983277
161Fructose and mannose metabolism_Homo sapiens_hsa000510.31034604
162alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.30911531
163Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.30842980
164Leukocyte transendothelial migration_Homo sapiens_hsa046700.30423433
165Platelet activation_Homo sapiens_hsa046110.25755993
166Epstein-Barr virus infection_Homo sapiens_hsa051690.25165867
167Tryptophan metabolism_Homo sapiens_hsa003800.23680004
168AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.18771246

Most similar genes based on co-expression Upload to Enrichr

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