CACNA2D4

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a member of the alpha-2/delta subunit family, a protein in the voltage-dependent calcium channel complex. Calcium channels mediate the influx of calcium ions into the cell upon membrane polarization and consist of a complex of alpha-1, alpha-2/delta, beta, and gamma subunits in a 1:1:1:1 ratio. Various versions of each of these subunits exist, either expressed from similar genes or the result of alternative splicing. Research on a highly similar protein in rabbit suggests the protein described in this record is cleaved into alpha-2 and delta subunits. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1retinal rod cell development (GO:0046548)9.50426696
2* detection of light stimulus involved in visual perception (GO:0050908)9.33421276
3* detection of light stimulus involved in sensory perception (GO:0050962)9.33421276
4retinal cone cell development (GO:0046549)7.78978344
5rhodopsin mediated signaling pathway (GO:0016056)7.22751590
6photoreceptor cell maintenance (GO:0045494)7.18538666
7photoreceptor cell development (GO:0042461)7.06006718
8eye photoreceptor cell development (GO:0042462)7.01786192
9regulation of rhodopsin mediated signaling pathway (GO:0022400)6.88223365
10negative regulation of cytosolic calcium ion concentration (GO:0051481)6.50948206
11cellular potassium ion homeostasis (GO:0030007)6.10444442
12regulation of inhibitory postsynaptic membrane potential (GO:0060080)6.07629193
13G-protein coupled glutamate receptor signaling pathway (GO:0007216)5.80679880
14response to peptidoglycan (GO:0032494)5.52084844
15protein-chromophore linkage (GO:0018298)5.33007405
16potassium ion homeostasis (GO:0055075)5.17327998
17relaxation of smooth muscle (GO:0044557)5.13997133
18sodium ion export (GO:0071436)5.07750711
19neutrophil activation involved in immune response (GO:0002283)5.06646063
20sensory perception of light stimulus (GO:0050953)5.05690125
21visual perception (GO:0007601)5.05358693
22gamma-aminobutyric acid signaling pathway (GO:0007214)5.04952299
23positive regulation of gamma-delta T cell activation (GO:0046645)4.94890594
24protein localization to synapse (GO:0035418)4.94059230
25synaptic vesicle endocytosis (GO:0048488)4.91549330
26synaptic vesicle exocytosis (GO:0016079)4.61892702
27negative regulation of interleukin-12 production (GO:0032695)4.59474702
28positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.52455603
29* detection of visible light (GO:0009584)4.45907473
30* detection of light stimulus (GO:0009583)4.45283012
31membrane hyperpolarization (GO:0060081)4.31845575
32nonmotile primary cilium assembly (GO:0035058)4.29908708
33positive regulation by organism of defense response of other organism involved in symbiotic interact4.26110994
34modulation by symbiont of host immune response (GO:0052553)4.26110994
35positive regulation by symbiont of host defense response (GO:0052509)4.26110994
36modulation by symbiont of host defense response (GO:0052031)4.26110994
37modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.26110994
38modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.26110994
39cellular extravasation (GO:0045123)4.19531065
40positive regulation of synapse maturation (GO:0090129)4.17056964
41GMP metabolic process (GO:0046037)4.15333584
42phototransduction (GO:0007602)4.04289328
43eye photoreceptor cell differentiation (GO:0001754)4.02144904
44photoreceptor cell differentiation (GO:0046530)4.02144904
45retina development in camera-type eye (GO:0060041)4.02118261
46negative regulation of erythrocyte differentiation (GO:0045647)4.01998615
47innervation (GO:0060384)3.98578984
48cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.92428594
49response to muramyl dipeptide (GO:0032495)3.92216726
50macrophage activation involved in immune response (GO:0002281)3.92123211
51regulation of short-term neuronal synaptic plasticity (GO:0048172)3.92033257
52urinary tract smooth muscle contraction (GO:0014848)3.91482804
53regulation of synaptic vesicle exocytosis (GO:2000300)3.90975676
54phototransduction, visible light (GO:0007603)3.89213072
55immunoglobulin mediated immune response (GO:0016064)3.89015184
56negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.81077692
57negative regulation of cell killing (GO:0031342)3.81077692
58calcium ion import (GO:0070509)3.78103819
59regulation of mast cell degranulation (GO:0043304)3.77064091
60positive regulation of uterine smooth muscle contraction (GO:0070474)3.72803898
61peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)3.72411832
62pinocytosis (GO:0006907)3.71175729
63mannose metabolic process (GO:0006013)3.67759237
64regulation of chemokine-mediated signaling pathway (GO:0070099)3.66062908
65regulation of synapse maturation (GO:0090128)3.65340489
66cellular response to light stimulus (GO:0071482)3.63495139
67lipopolysaccharide-mediated signaling pathway (GO:0031663)3.61782361
68regulation of myeloid leukocyte mediated immunity (GO:0002886)3.59671112
69oligosaccharide catabolic process (GO:0009313)3.56008960
70positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.55369078
71regulation of voltage-gated calcium channel activity (GO:1901385)3.55134059
72detection of molecule of bacterial origin (GO:0032490)3.52429972
73cellular sodium ion homeostasis (GO:0006883)3.50664653
74mating behavior (GO:0007617)3.50066238
75detection of other organism (GO:0098543)3.49661010
76positive regulation of cGMP biosynthetic process (GO:0030828)3.45462298
77regulation of gamma-delta T cell activation (GO:0046643)3.45071583
78regulation of mast cell activation involved in immune response (GO:0033006)3.43446991
79tachykinin receptor signaling pathway (GO:0007217)3.42724800
80regulation of leukocyte degranulation (GO:0043300)3.41929183
81granulocyte activation (GO:0036230)3.38487671
82positive regulation of mast cell activation (GO:0033005)3.34503354
83synaptic vesicle docking involved in exocytosis (GO:0016081)3.34267156
84regulation of cGMP metabolic process (GO:0030823)3.33812512
85behavioral response to ethanol (GO:0048149)3.33558112
86myeloid cell activation involved in immune response (GO:0002275)3.33309053
87neutrophil activation (GO:0042119)3.33071578
88antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.32846299
89striatum development (GO:0021756)3.31656936
90positive regulation of gastrulation (GO:2000543)3.31603644
91negative regulation of cytokine production involved in immune response (GO:0002719)3.30677873
92* detection of external stimulus (GO:0009581)3.29227340
93* detection of abiotic stimulus (GO:0009582)3.28659396
94detection of bacterium (GO:0016045)3.27449455
95cell communication by electrical coupling (GO:0010644)3.24984577
96glycosphingolipid catabolic process (GO:0046479)3.24567652
97mature B cell differentiation involved in immune response (GO:0002313)3.23655235
98regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.23402999
99synaptic vesicle maturation (GO:0016188)3.23096484
100myeloid dendritic cell differentiation (GO:0043011)3.22846574
101myeloid dendritic cell activation (GO:0001773)3.22324946
102detection of external biotic stimulus (GO:0098581)3.20738831
103negative regulation of myeloid cell apoptotic process (GO:0033033)3.20145225
104regulation of cGMP biosynthetic process (GO:0030826)3.18933266
105regulation of mast cell activation (GO:0033003)3.18230689
106positive regulation of mast cell degranulation (GO:0043306)3.17332378
107positive regulation of mast cell activation involved in immune response (GO:0033008)3.17332378
108establishment of synaptic vesicle localization (GO:0097480)3.14920950
109synaptic vesicle transport (GO:0048489)3.14920950
110positive regulation of myeloid leukocyte mediated immunity (GO:0002888)3.14119977
111cellular response to thyroid hormone stimulus (GO:0097067)3.13973964
112regulation of synaptic vesicle transport (GO:1902803)3.12678707
113righting reflex (GO:0060013)3.11688418
114positive regulation of B cell differentiation (GO:0045579)3.09919313
115antigen processing and presentation of endogenous antigen (GO:0019883)3.09131598
116positive regulation of cGMP metabolic process (GO:0030825)3.07195986
117regulation of catecholamine metabolic process (GO:0042069)3.04993267
118regulation of dopamine metabolic process (GO:0042053)3.04993267
119regulation of B cell receptor signaling pathway (GO:0050855)3.04800685
120estrogen biosynthetic process (GO:0006703)3.04691860
121glutamate receptor signaling pathway (GO:0007215)3.04245418
122detection of biotic stimulus (GO:0009595)3.02415986
123pyrimidine dimer repair (GO:0006290)3.01485750
124macrophage activation (GO:0042116)2.99627370
125macrophage differentiation (GO:0030225)2.98269104
126potassium ion export (GO:0071435)2.98263935
127regulation of superoxide anion generation (GO:0032928)2.97382941
128T cell migration (GO:0072678)2.97138876
129regulation of hypersensitivity (GO:0002883)2.96831129
130sialylation (GO:0097503)2.95638657
131regulation of macrophage chemotaxis (GO:0010758)2.94222411
132response to histamine (GO:0034776)2.93238040
133atrial cardiac muscle cell action potential (GO:0086014)2.91980103
134regulation of T-helper 2 cell differentiation (GO:0045628)2.90764365
135regulation of neurotransmitter secretion (GO:0046928)2.90421825
136B cell mediated immunity (GO:0019724)2.90204329
137positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.90200754
138germinal center formation (GO:0002467)2.89952193
139positive regulation of guanylate cyclase activity (GO:0031284)2.89810195
140glycolipid catabolic process (GO:0019377)2.89715525
141NIK/NF-kappaB signaling (GO:0038061)2.89298003
142positive regulation of cellular amide metabolic process (GO:0034250)2.88527270
143response to protozoan (GO:0001562)2.88410195
144lactate metabolic process (GO:0006089)2.88262734
145response to thyroid hormone (GO:0097066)2.86630702
146regulation of uterine smooth muscle contraction (GO:0070472)2.86293478
147response to defenses of other organism involved in symbiotic interaction (GO:0052173)2.85883366
148response to host (GO:0075136)2.85883366
149response to host defenses (GO:0052200)2.85883366
150positive regulation of synaptic transmission, GABAergic (GO:0032230)2.85713360
151neutrophil mediated immunity (GO:0002446)2.85504115
152membrane depolarization during action potential (GO:0086010)2.85200135
153positive regulation of interleukin-2 biosynthetic process (GO:0045086)2.83289400
154nitric oxide mediated signal transduction (GO:0007263)2.83161105
155regulation of tolerance induction (GO:0002643)2.82620580
156defense response to protozoan (GO:0042832)2.82535263
157neuron-neuron synaptic transmission (GO:0007270)2.81171567
158regulation of gamma-delta T cell differentiation (GO:0045586)2.80226294
159response to host immune response (GO:0052572)2.80174620
160response to immune response of other organism involved in symbiotic interaction (GO:0052564)2.80174620
161antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.79506403
162respiratory burst (GO:0045730)2.79162942
163regulation of vitamin D biosynthetic process (GO:0060556)2.78817312
164positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)2.78449852
165auditory receptor cell stereocilium organization (GO:0060088)2.78363679
166positive regulation of leukocyte degranulation (GO:0043302)2.77157625
167negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.76955674
168long term synaptic depression (GO:0060292)2.76566115
169regulation of T cell tolerance induction (GO:0002664)2.76376365
170negative regulation of T cell mediated immunity (GO:0002710)2.75946519
171retinal ganglion cell axon guidance (GO:0031290)2.75469117
172microglial cell activation (GO:0001774)2.75252619
173dentate gyrus development (GO:0021542)2.74719985
174potassium ion transmembrane transport (GO:0071805)2.74221055
175cellular potassium ion transport (GO:0071804)2.74221055
176regulation of interleukin-8 biosynthetic process (GO:0045414)2.74000368
177potassium ion import (GO:0010107)2.73764003
178interferon-gamma-mediated signaling pathway (GO:0060333)2.73459878
179regulation of interferon-beta biosynthetic process (GO:0045357)2.73430073
180low-density lipoprotein particle clearance (GO:0034383)2.73296538
181positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)2.73272533
182negative regulation of granulocyte differentiation (GO:0030853)2.71923765
183leukocyte aggregation (GO:0070486)2.70970412
184regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)2.70883900
185regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.70883900
186myeloid leukocyte activation (GO:0002274)2.68727853
187positive regulation of tumor necrosis factor superfamily cytokine production (GO:1903557)2.65800094
188regulation of regulated secretory pathway (GO:1903305)2.65381427
189leukocyte degranulation (GO:0043299)2.64979669
190antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.63205715
191plasma lipoprotein particle assembly (GO:0034377)2.62685969
192positive regulation of phagocytosis (GO:0050766)2.61657995
193T-helper 1 type immune response (GO:0042088)2.60739617
194B cell receptor signaling pathway (GO:0050853)2.60167104
195positive regulation of extracellular matrix organization (GO:1903055)2.59717779
196negative regulation of lymphocyte mediated immunity (GO:0002707)2.58000728
197mature B cell differentiation (GO:0002335)2.57338418
198response to pheromone (GO:0019236)12.5649318

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human4.73339857
2GBX2_23144817_ChIP-Seq_PC3_Human4.50332530
3GLI1_17442700_ChIP-ChIP_MESCs_Mouse4.22388362
4BP1_19119308_ChIP-ChIP_Hs578T_Human4.20994004
5VDR_21846776_ChIP-Seq_THP-1_Human3.87475299
6IRF8_21731497_ChIP-ChIP_J774_Mouse3.57385301
7NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human3.44202719
8SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse3.32230071
9VDR_24763502_ChIP-Seq_THP-1_Human3.32187184
10GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse3.25424755
11MECOM_23826213_ChIP-Seq_KASUMI_Mouse3.16301344
12IRF8_27001747_Chip-Seq_BMDM_Mouse3.00165879
13NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.94087750
14MYB_21317192_ChIP-Seq_ERMYB_Mouse2.77222484
15STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.54902319
16MYC_22102868_ChIP-Seq_BL_Human2.53970582
17EGR1_19374776_ChIP-ChIP_THP-1_Human2.53487614
18DROSHA_22980978_ChIP-Seq_HELA_Human2.52937500
19SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.41165972
20SCL_19346495_ChIP-Seq_HPC-7_Human2.40633260
21SPI1_23547873_ChIP-Seq_NB4_Human2.39319498
22BRD4_27068464_Chip-Seq_AML-cells_Mouse2.36446315
23SPI1_22096565_ChIP-ChIP_GC-B_Mouse2.35959373
24RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.34258784
25* SMARCD1_25818293_ChIP-Seq_ESCs_Mouse2.31268426
26JARID2_20075857_ChIP-Seq_MESCs_Mouse2.31095869
27EZH2_27294783_Chip-Seq_ESCs_Mouse2.28986344
28SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.28817768
29JARID2_20064375_ChIP-Seq_MESCs_Mouse2.28637352
30SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.26844551
31EZH2_27304074_Chip-Seq_ESCs_Mouse2.22860530
32STAT4_19710469_ChIP-ChIP_TH1__Mouse2.20460441
33SPI1_23127762_ChIP-Seq_K562_Human2.18506497
34* REST_21632747_ChIP-Seq_MESCs_Mouse2.17346579
35ZFP57_27257070_Chip-Seq_ESCs_Mouse2.13507184
36EED_16625203_ChIP-ChIP_MESCs_Mouse2.13022907
37SUZ12_27294783_Chip-Seq_ESCs_Mouse2.10675280
38RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.09097358
39PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human2.08630310
40ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.06826245
41MAF_26560356_Chip-Seq_TH1_Human2.06419989
42SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.06385970
43AR_21572438_ChIP-Seq_LNCaP_Human2.05622584
44IRF8_22096565_ChIP-ChIP_GC-B_Mouse2.04701199
45VDR_24787735_ChIP-Seq_THP-1_Human2.04359996
46Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.00371824
47NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.99758970
48RUNX1_22412390_ChIP-Seq_EML_Mouse1.99603473
49BMI1_23680149_ChIP-Seq_NPCS_Mouse1.99243036
50RNF2_27304074_Chip-Seq_ESCs_Mouse1.97235199
51RNF2_18974828_ChIP-Seq_MESCs_Mouse1.96448646
52EZH2_18974828_ChIP-Seq_MESCs_Mouse1.96448646
53TCF7_22412390_ChIP-Seq_EML_Mouse1.96181084
54RUNX_20019798_ChIP-Seq_JUKART_Human1.94979463
55E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.93171823
56STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.93108971
57VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.91990451
58MTF2_20144788_ChIP-Seq_MESCs_Mouse1.90471871
59LXR_22292898_ChIP-Seq_THP-1_Human1.90243837
60* P53_22127205_ChIP-Seq_FIBROBLAST_Human1.89492403
61MYB_26560356_Chip-Seq_TH2_Human1.88060749
62* UTX_26944678_Chip-Seq_JUKART_Human1.86434306
63IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.86230071
64IGF1R_20145208_ChIP-Seq_DFB_Human1.84639059
65KDM2B_26808549_Chip-Seq_SUP-B15_Human1.84319068
66POU3F2_20337985_ChIP-ChIP_501MEL_Human1.80661877
67KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.79051755
68RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.78266273
69CTBP1_25329375_ChIP-Seq_LNCAP_Human1.75583320
70CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.74869220
71CTBP2_25329375_ChIP-Seq_LNCAP_Human1.72939824
72THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.72382994
73MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.71115820
74SMAD4_21799915_ChIP-Seq_A2780_Human1.70919663
75MYB_26560356_Chip-Seq_TH1_Human1.70521087
76SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.70159862
77SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.67939977
78TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.67020468
79SMAD_19615063_ChIP-ChIP_OVARY_Human1.65605333
80ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.64459922
81EZH2_22144423_ChIP-Seq_EOC_Human1.64385008
82TAF15_26573619_Chip-Seq_HEK293_Human1.64232348
83P300_19829295_ChIP-Seq_ESCs_Human1.63715028
84ELK3_25401928_ChIP-Seq_HUVEC_Human1.62318499
85CBX2_27304074_Chip-Seq_ESCs_Mouse1.60967530
86REST_18959480_ChIP-ChIP_MESCs_Mouse1.60118016
87FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.59619656
88MAF_26560356_Chip-Seq_TH2_Human1.59383876
89KDM2B_26808549_Chip-Seq_DND41_Human1.57053594
90TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.55441924
91SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.54790226
92PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.53128912
93PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.52903130
94CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.51812859
95FUS_26573619_Chip-Seq_HEK293_Human1.49486305
96VDR_22108803_ChIP-Seq_LS180_Human1.48592587
97RNF2_27304074_Chip-Seq_NSC_Mouse1.48487642
98CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.46586888
99SMAD3_21741376_ChIP-Seq_EPCs_Human1.46137357
100LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.45953152
101PIAS1_25552417_ChIP-Seq_VCAP_Human1.45874272
102CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.45440713
103FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.45221981
104GATA1_19941827_ChIP-Seq_MEL_Mouse1.44825716
105MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.42353371
106TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.41093844
107IKZF1_21737484_ChIP-ChIP_HCT116_Human1.40494562
108KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.40344820
109PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.39660655
110TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.39141501
111PU_27001747_Chip-Seq_BMDM_Mouse1.38051742
112PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.36554243
113TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.36382235
114LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.35893443
115PPARA_22158963_ChIP-Seq_LIVER_Mouse1.34033443
116AR_25329375_ChIP-Seq_VCAP_Human1.33632526
117GATA1_22383799_ChIP-Seq_G1ME_Mouse1.33567580
118ER_23166858_ChIP-Seq_MCF-7_Human1.32767273
119GATA2_22383799_ChIP-Seq_G1ME_Mouse1.32722290
120STAT3_23295773_ChIP-Seq_U87_Human1.32477030
121GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.31981905
122RXR_22158963_ChIP-Seq_LIVER_Mouse1.31595014
123TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.31107385
124CEBPB_20513432_ChIP-Seq_MACROPHAGES_Mouse1.29660834
125CEBPA_20513432_ChIP-Seq_MACROPHAGES_Mouse1.29656573
126CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.29627257
127CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.28454675
128PPARG_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.28354558
129SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.28183774
130ASXL1_24218140_ChIP-Seq_BMDM_Mouse1.26485693
131SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.25829594
132EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.24424033
133TCF4_23295773_ChIP-Seq_U87_Human1.24393127
134NANOG_18555785_Chip-Seq_ESCs_Mouse1.23175678
135CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22260131
136* AR_19668381_ChIP-Seq_PC3_Human1.21996137
137UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.21944340
138RARB_27405468_Chip-Seq_BRAIN_Mouse1.21849744
139PU.1_20513432_ChIP-Seq_Bcells_Mouse1.21628730
140BCL6_27268052_Chip-Seq_Bcells_Human1.20874630
141FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.19006341
142STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.18107031
143SPI1_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.17955760
144BCOR_27268052_Chip-Seq_Bcells_Human1.17117995
145GATA1_19941826_ChIP-Seq_K562_Human1.16144467
146SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.15063272
147* SMAD3_21741376_ChIP-Seq_HESCs_Human1.14952454
148RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.14851975
149GATA3_27048872_Chip-Seq_THYMUS_Human1.14698699
150ELF1_20517297_ChIP-Seq_JURKAT_Human1.14107310
151RING1B_27294783_Chip-Seq_ESCs_Mouse1.14102686
152YAP1_20516196_ChIP-Seq_MESCs_Mouse1.12408286
153SUZ12_27294783_Chip-Seq_NPCs_Mouse1.11549339
154TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.10784304
155SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.09898843
156NCOR1_26117541_ChIP-Seq_K562_Human1.09452231
157TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.09249793
158TOP2B_26459242_ChIP-Seq_MCF-7_Human1.09214568
159AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.09047960
160MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.08998066
161SUZ12_18555785_Chip-Seq_ESCs_Mouse1.08110474
162RING1B_27294783_Chip-Seq_NPCs_Mouse1.06839616
163SOX2_21211035_ChIP-Seq_LN229_Gbm1.06683634
164RARG_19884340_ChIP-ChIP_MEFs_Mouse1.06008460
165CBP_20019798_ChIP-Seq_JUKART_Human1.05617289
166IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.05617289
167E2F1_18555785_Chip-Seq_ESCs_Mouse1.04744726
168FLI1_21867929_ChIP-Seq_TH2_Mouse1.04569956
169PRDM14_20953172_ChIP-Seq_ESCs_Human1.04228514
170EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.03864736
171SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.03073379
172CMYC_18555785_Chip-Seq_ESCs_Mouse1.01707168
173TBL1_22424771_ChIP-Seq_293T_Human1.01680114
174TFEB_21752829_ChIP-Seq_HELA_Human1.01393946
175CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.00328953
176BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse0.99705729
177ELK4_26923725_Chip-Seq_MESODERM_Mouse0.99643807
178TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.99515548
179POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.99515548
180GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.98853702
181KDM2B_26808549_Chip-Seq_REH_Human0.98671438
182OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.97120990
183SOX9_26525672_Chip-Seq_HEART_Mouse0.96589663
184CDX2_19796622_ChIP-Seq_MESCs_Mouse0.95776200
185* SMAD4_21741376_ChIP-Seq_HESCs_Human0.95720272
186* CTCF_27219007_Chip-Seq_ERYTHROID_Human0.95137699
187NFE2_27457419_Chip-Seq_LIVER_Mouse0.94834153
188KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse0.94734463
189LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.94255442
190NR3C1_21868756_ChIP-Seq_MCF10A_Human0.94146735
191FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.92472008
192* KDM2B_26808549_Chip-Seq_JURKAT_Human0.92347730
193* RUNX1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.92318433
194LXR_22158963_ChIP-Seq_LIVER_Mouse0.91770576
195PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.90197988
196P68_20966046_ChIP-Seq_HELA_Human0.88280943
197VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human0.87323359
198NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.85745424

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0005551_abnormal_eye_electrophysiolog7.78666782
2MP0006072_abnormal_retinal_apoptosis5.28916957
3MP0003011_delayed_dark_adaptation4.89291883
4MP0005253_abnormal_eye_physiology4.67984836
5MP0002090_abnormal_vision4.12867769
6MP0005058_abnormal_lysosome_morphology4.05822962
7MP0003436_decreased_susceptibility_to3.85250691
8MP0001984_abnormal_olfaction3.73304530
9MP0003303_peritoneal_inflammation3.66148907
10MP0003950_abnormal_plasma_membrane3.63889829
11MP0001835_abnormal_antigen_presentation3.26865472
12MP0006292_abnormal_olfactory_placode3.20231203
13* MP0005195_abnormal_posterior_eye3.11778250
14MP0002419_abnormal_innate_immunity2.99197125
15MP0006082_CNS_inflammation2.97226588
16MP0001502_abnormal_circadian_rhythm2.96980599
17MP0009840_abnormal_foam_cell2.77697704
18MP0009785_altered_susceptibility_to2.67661400
19MP0002638_abnormal_pupillary_reflex2.67152275
20MP0002148_abnormal_hypersensitivity_rea2.65863810
21MP0003724_increased_susceptibility_to2.63638304
22MP0005025_abnormal_response_to2.63336604
23MP0005671_abnormal_response_to2.54014383
24MP0005000_abnormal_immune_tolerance2.53121117
25MP0001324_abnormal_eye_pigmentation2.52708700
26MP0004782_abnormal_surfactant_physiolog2.44610264
27MP0009278_abnormal_bone_marrow2.39501109
28MP0005423_abnormal_somatic_nervous2.33721402
29MP0003191_abnormal_cellular_cholesterol2.32082512
30MP0005464_abnormal_platelet_physiology2.29681391
31MP0001800_abnormal_humoral_immune2.25705449
32MP0001790_abnormal_immune_system2.24402691
33MP0005387_immune_system_phenotype2.24402691
34MP0000685_abnormal_immune_system2.21611728
35MP0003300_gastrointestinal_ulcer2.21427027
36MP0002452_abnormal_antigen_presenting2.20939986
37MP0002723_abnormal_immune_serum2.19724871
38MP0001486_abnormal_startle_reflex2.18943836
39MP0005391_vision/eye_phenotype2.17497888
40MP0002229_neurodegeneration2.10130188
41MP0005451_abnormal_body_composition2.06327001
42MP0002420_abnormal_adaptive_immunity2.03658840
43MP0004233_abnormal_muscle_weight2.02906538
44MP0001819_abnormal_immune_cell2.01883174
45MP0003880_abnormal_central_pattern2.01117228
46MP0001346_abnormal_lacrimal_gland1.97534157
47MP0001533_abnormal_skeleton_physiology1.95407158
48MP0001853_heart_inflammation1.94025623
49MP0002139_abnormal_hepatobiliary_system1.92426492
50MP0002752_abnormal_somatic_nervous1.88658198
51MP0000604_amyloidosis1.87363862
52MP0001545_abnormal_hematopoietic_system1.80926096
53MP0005397_hematopoietic_system_phenotyp1.80926096
54MP0002405_respiratory_system_inflammati1.80128128
55MP0003075_altered_response_to1.76575930
56MP0005248_abnormal_Harderian_gland1.69364632
57MP0005499_abnormal_olfactory_system1.68866111
58MP0005394_taste/olfaction_phenotype1.68866111
59MP0008789_abnormal_olfactory_epithelium1.68337131
60MP0001845_abnormal_inflammatory_respons1.67484609
61MP0002998_abnormal_bone_remodeling1.66420864
62MP0002272_abnormal_nervous_system1.64600293
63MP0005670_abnormal_white_adipose1.64419292
64MP0008469_abnormal_protein_level1.63831549
65MP0010386_abnormal_urinary_bladder1.62297513
66MP0004947_skin_inflammation1.60692745
67MP0010155_abnormal_intestine_physiology1.60001708
68MP0009333_abnormal_splenocyte_physiolog1.59598158
69MP0003828_pulmonary_edema1.59305532
70MP0004510_myositis1.56030398
71MP0008260_abnormal_autophagy1.55764450
72MP0000716_abnormal_immune_system1.54960048
73MP0009764_decreased_sensitivity_to1.51185236
74MP0000858_altered_metastatic_potential1.47681468
75MP0002398_abnormal_bone_marrow1.47481930
76MP0003635_abnormal_synaptic_transmissio1.44384725
77MP0009046_muscle_twitch1.43879904
78MP0002064_seizures1.43056500
79MP0010030_abnormal_orbit_morphology1.41265577
80MP0000343_altered_response_to1.41205028
81MP0002882_abnormal_neuron_morphology1.40540849
82MP0002067_abnormal_sensory_capabilities1.37909459
83MP0000631_abnormal_neuroendocrine_gland1.37513730
84MP0000689_abnormal_spleen_morphology1.36875831
85MP0003656_abnormal_erythrocyte_physiolo1.36656382
86MP0001188_hyperpigmentation1.35426257
87MP0002734_abnormal_mechanical_nocicepti1.30752194
88MP0002722_abnormal_immune_system1.28011169
89MP0004742_abnormal_vestibular_system1.27790214
90MP0001968_abnormal_touch/_nociception1.27788064
91MP0002429_abnormal_blood_cell1.27208896
92MP0003690_abnormal_glial_cell1.27110640
93MP0004215_abnormal_myocardial_fiber1.25188202
94MP0003763_abnormal_thymus_physiology1.25111845
95MP0005167_abnormal_blood-brain_barrier1.24628198
96MP0002132_abnormal_respiratory_system1.24448105
97MP0002933_joint_inflammation1.24383414
98MP0003806_abnormal_nucleotide_metabolis1.23872309
99MP0005310_abnormal_salivary_gland1.20597018
100MP0002063_abnormal_learning/memory/cond1.18625193
101MP0002184_abnormal_innervation1.18466690
102MP0008775_abnormal_heart_ventricle1.17501346
103MP0009745_abnormal_behavioral_response1.14084155
104MP0005360_urolithiasis1.13861577
105MP0002572_abnormal_emotion/affect_behav1.13609590
106MP0003879_abnormal_hair_cell1.13372288
107MP0006054_spinal_hemorrhage1.13066312
108MP0005365_abnormal_bile_salt1.09868658
109MP0002653_abnormal_ependyma_morphology1.07210256
110MP0005166_decreased_susceptibility_to1.06991335
111MP0002277_abnormal_respiratory_mucosa1.06388192
112MP0003448_altered_tumor_morphology1.04616134
113MP0004859_abnormal_synaptic_plasticity1.02931364
114MP0005076_abnormal_cell_differentiation1.02396687
115MP0005595_abnormal_vascular_smooth1.01965144
116MP0005164_abnormal_response_to1.01783333
117MP0000566_synostosis1.01399609
118MP0001986_abnormal_taste_sensitivity1.01174231
119MP0002736_abnormal_nociception_after0.98886374
120MP0002332_abnormal_exercise_endurance0.98056787
121MP0010368_abnormal_lymphatic_system0.97165642
122MP0008004_abnormal_stomach_pH0.94370286
123MP0002166_altered_tumor_susceptibility0.94246386
124MP0004883_abnormal_blood_vessel0.94150173
125MP0002735_abnormal_chemical_nociception0.94126642
126MP0001851_eye_inflammation0.93806391
127MP0002396_abnormal_hematopoietic_system0.93691409
128MP0004145_abnormal_muscle_electrophysio0.93273086
129MP0002234_abnormal_pharynx_morphology0.92682943
130MP0004142_abnormal_muscle_tone0.91343838
131MP0004885_abnormal_endolymph0.90208439
132MP0009763_increased_sensitivity_to0.89673083
133MP0000465_gastrointestinal_hemorrhage0.89477826
134MP0001963_abnormal_hearing_physiology0.89252465
135MP0009697_abnormal_copulation0.88825195
136MP0003329_amyloid_beta_deposits0.88475458
137MP0003453_abnormal_keratinocyte_physiol0.88396956
138MP0000703_abnormal_thymus_morphology0.87240216
139MP0000609_abnormal_liver_physiology0.87186431
140MP0004808_abnormal_hematopoietic_stem0.85843944
141MP0003634_abnormal_glial_cell0.84399665
142MP0003868_abnormal_feces_composition0.83672489
143MP0003866_abnormal_defecation0.82239169
144MP0002557_abnormal_social/conspecific_i0.81670949
145MP0008569_lethality_at_weaning0.81211194
146MP0001529_abnormal_vocalization0.80937819
147MP0000920_abnormal_myelination0.79721008
148MP0003195_calcinosis0.76826789
149MP0005390_skeleton_phenotype0.76009737
150MP0004036_abnormal_muscle_relaxation0.75814017
151MP0003137_abnormal_impulse_conducting0.75701943
152MP0003890_abnormal_embryonic-extraembry0.75352646
153MP0000534_abnormal_ureter_morphology0.73873573
154MP0001873_stomach_inflammation0.73807969
155MP0003795_abnormal_bone_structure0.72907766
156MP0004043_abnormal_pH_regulation0.72814540
157MP0000249_abnormal_blood_vessel0.71703159
158MP0010329_abnormal_lipoprotein_level0.71672549
159MP0002009_preneoplasia0.70839368
160MP0001501_abnormal_sleep_pattern0.70613656
161MP0005666_abnormal_adipose_tissue0.70092663
162MP0004185_abnormal_adipocyte_glucose0.68896054
163MP0000026_abnormal_inner_ear0.68885242
164MP0005386_behavior/neurological_phenoty0.66528997
165MP0004924_abnormal_behavior0.66528997
166MP0001970_abnormal_pain_threshold0.66267831
167MP0006276_abnormal_autonomic_nervous0.65234590
168MP0005410_abnormal_fertilization0.64582760
169MP0001663_abnormal_digestive_system0.64227707
170MP0002006_tumorigenesis0.63318247
171MP0000955_abnormal_spinal_cord0.62881030
172MP0005646_abnormal_pituitary_gland0.62472080
173MP0004084_abnormal_cardiac_muscle0.62123544
174MP0002138_abnormal_hepatobiliary_system0.61680184
175MP0005197_abnormal_uvea_morphology0.61437574
176MP0009115_abnormal_fat_cell0.60840860
177MP0005319_abnormal_enzyme/_coenzyme0.60481778
178MP0002127_abnormal_cardiovascular_syste0.60414283
179MP0003091_abnormal_cell_migration0.59962573
180MP0001915_intracranial_hemorrhage0.59809344
181MP0002697_abnormal_eye_size0.59247014
182MP0004085_abnormal_heartbeat0.58798554
183MP0002066_abnormal_motor_capabilities/c0.58652409
184MP0000569_abnormal_digit_pigmentation0.58481548
185MP0005584_abnormal_enzyme/coenzyme_acti0.58218959
186MP0004019_abnormal_vitamin_homeostasis0.56989416
187MP0004270_analgesia0.56907557
188MP0002069_abnormal_eating/drinking_beha0.54710536
189MP0002152_abnormal_brain_morphology0.54578437
190MP0003045_fibrosis0.54188227
191MP0001270_distended_abdomen0.52705481
192MP0003172_abnormal_lysosome_physiology0.51862725
193MP0000778_abnormal_nervous_system0.51067801
194MP0005645_abnormal_hypothalamus_physiol0.49907910
195MP0001286_abnormal_eye_development0.48608436
196MP0003183_abnormal_peptide_metabolism0.48593658
197MP0003698_abnormal_male_reproductive0.47461110

Predicted human phenotypes

RankGene SetZ-score
1Central scotoma (HP:0000603)8.73160470
2Abnormal rod and cone electroretinograms (HP:0008323)8.34658954
3Abnormality of macular pigmentation (HP:0008002)8.10970989
4Bony spicule pigmentary retinopathy (HP:0007737)7.50175654
5Severe visual impairment (HP:0001141)7.27030951
6Decreased central vision (HP:0007663)6.84009247
7Scotoma (HP:0000575)6.44945835
8Absent rod-and cone-mediated responses on ERG (HP:0007688)6.08922340
9Septo-optic dysplasia (HP:0100842)5.35925556
10Attenuation of retinal blood vessels (HP:0007843)5.23067434
11Abnormality of macrophages (HP:0004311)4.91475928
12Recurrent abscess formation (HP:0002722)4.87483631
13Dyschromatopsia (HP:0007641)4.85194866
14Pendular nystagmus (HP:0012043)4.82274500
15Recurrent bacterial skin infections (HP:0005406)4.76585179
16Abolished electroretinogram (ERG) (HP:0000550)4.74755698
17Keratoconus (HP:0000563)4.73280527
18Increased corneal curvature (HP:0100692)4.73280527
19Abnormality of glycolipid metabolism (HP:0010969)4.64530576
20Abnormality of liposaccharide metabolism (HP:0010968)4.64530576
21Abnormality of glycosphingolipid metabolism (HP:0004343)4.64530576
22Vacuolated lymphocytes (HP:0001922)4.49636037
23Eczematoid dermatitis (HP:0000976)4.36282998
24Myositis (HP:0100614)4.30517428
25Pigmentary retinal degeneration (HP:0001146)4.25755255
26Dysostosis multiplex (HP:0000943)4.25669586
27Systemic lupus erythematosus (HP:0002725)4.13973046
28Recurrent gram-negative bacterial infections (HP:0005420)4.06712631
29Chorioretinal atrophy (HP:0000533)3.98471870
30Stomatitis (HP:0010280)3.97905322
31Amyloidosis (HP:0011034)3.92623904
32Congenital sensorineural hearing impairment (HP:0008527)3.81102663
33Orchitis (HP:0100796)3.76457657
34Elevated erythrocyte sedimentation rate (HP:0003565)3.74012021
35Cone-rod dystrophy (HP:0000548)3.72767940
36Febrile seizures (HP:0002373)3.68414618
37Aplasia/Hypoplasia of the fovea (HP:0008060)3.65884454
38Hypoplasia of the fovea (HP:0007750)3.65884454
39Optic neuritis (HP:0100653)3.63131645
40Retrobulbar optic neuritis (HP:0100654)3.63131645
41* Photophobia (HP:0000613)3.56532218
42Epileptic encephalopathy (HP:0200134)3.50901619
43Mediastinal lymphadenopathy (HP:0100721)3.48177791
44Purpura (HP:0000979)3.47516531
45Type II diabetes mellitus (HP:0005978)3.42933979
46Recurrent skin infections (HP:0001581)3.36148158
47Obstructive lung disease (HP:0006536)3.29979807
48Chronic obstructive pulmonary disease (HP:0006510)3.29979807
49Recurrent fungal infections (HP:0002841)3.23238010
50Deep venous thrombosis (HP:0002625)3.22752860
51Albinism (HP:0001022)3.16337164
52Retinitis pigmentosa (HP:0000510)3.12486512
53Loss of speech (HP:0002371)3.12042703
54Glomerulonephritis (HP:0000099)3.11549405
55Abnormality of the fovea (HP:0000493)3.08065612
56Abnormality of mucopolysaccharide metabolism (HP:0011020)3.03671825
57Abnormality of polysaccharide metabolism (HP:0011012)3.03671825
58Abnormality of glycosaminoglycan metabolism (HP:0004371)3.03671825
59Mucopolysacchariduria (HP:0008155)3.03345451
60Urinary glycosaminoglycan excretion (HP:0003541)3.03345451
61Recurrent cutaneous fungal infections (HP:0011370)2.94138900
62Chronic mucocutaneous candidiasis (HP:0002728)2.94138900
63Disinhibition (HP:0000734)2.89924797
64Absent septum pellucidum (HP:0001331)2.89749065
65Macular degeneration (HP:0000608)2.89575128
66Increased serum ferritin (HP:0003281)2.78389260
67Meningitis (HP:0001287)2.76850203
68Constricted visual fields (HP:0001133)2.72494991
69Complement deficiency (HP:0004431)2.71707686
70Choroideremia (HP:0001139)2.68815524
71Gingival bleeding (HP:0000225)2.66860126
72Epistaxis (HP:0000421)2.66751163
73Gastrointestinal infarctions (HP:0005244)2.66727277
74Vasculitis (HP:0002633)2.66218845
75Gingivitis (HP:0000230)2.65454446
76Gait imbalance (HP:0002141)2.64714071
77Prolonged bleeding time (HP:0003010)2.62667440
78Optic nerve hypoplasia (HP:0000609)2.61775531
79Recurrent viral infections (HP:0004429)2.60788032
80Keratoconjunctivitis sicca (HP:0001097)2.60377480
81Congenital primary aphakia (HP:0007707)2.58267393
82Autoimmune thrombocytopenia (HP:0001973)2.57348110
83Petechiae (HP:0000967)2.54395059
84Posterior subcapsular cataract (HP:0007787)2.53696749
85Nephrogenic diabetes insipidus (HP:0009806)2.53135931
86Medial flaring of the eyebrow (HP:0010747)2.52178466
87Myocardial infarction (HP:0001658)2.51753328
88Pulmonary infiltrates (HP:0002113)2.49122647
89Primitive reflexes (palmomental, snout, glabellar) (HP:0002476)2.48465483
90Colitis (HP:0002583)2.48166737
91Hemoptysis (HP:0002105)2.47380073
92Aplasia/Hypoplasia of the macula (HP:0008059)2.46956992
93Abnormality of the septum pellucidum (HP:0007375)2.46170741
94Pustule (HP:0200039)2.44867081
95Episodic fever (HP:0001954)2.42576235
96Hepatosplenomegaly (HP:0001433)2.41125536
97Joint hemorrhage (HP:0005261)2.40472789
98Increased IgE level (HP:0003212)2.39699787
99Thrombocytosis (HP:0001894)2.38889125
100Abnormality of complement system (HP:0005339)2.37623012
101Keratoconjunctivitis (HP:0001096)2.36898322
102Abnormality of the lumbar spine (HP:0100712)2.34524222
103Encephalitis (HP:0002383)2.33007717
104Absence seizures (HP:0002121)2.31891578
105Spontaneous hematomas (HP:0007420)2.29567185
106Arterial thrombosis (HP:0004420)2.28881588
107Abnormality of iron homeostasis (HP:0011031)2.28752776
108Hemorrhage of the eye (HP:0011885)2.28489589
109True hermaphroditism (HP:0010459)2.25258259
110Urticaria (HP:0001025)2.24799366
111Thoracic kyphosis (HP:0002942)2.23988904
112Pulmonary embolism (HP:0002204)2.23375918
113Aplasia/Hypoplasia affecting the fundus (HP:0008057)2.23187220
114Inflammation of the large intestine (HP:0002037)2.21968195
115Aplasia/Hypoplasia affecting the retina (HP:0008061)2.20845922
116Gastrointestinal inflammation (HP:0004386)2.19829290
117Abnormality of the common coagulation pathway (HP:0010990)2.18524971
118Polyneuropathy (HP:0001271)2.16433192
119Abnormality of the vasculature of the conjunctiva (HP:0008054)2.14393057
120Progressive cerebellar ataxia (HP:0002073)2.13774461
121Cholecystitis (HP:0001082)2.13201817
122Abnormal gallbladder physiology (HP:0012438)2.13201817
123Cellulitis (HP:0100658)2.11533711
124Spondylolisthesis (HP:0003302)2.10609336
125Progressive visual loss (HP:0000529)2.10336118
126Upper motor neuron abnormality (HP:0002127)2.10102719
127Neuronal loss in central nervous system (HP:0002529)2.07811816
128Vitreoretinal degeneration (HP:0000655)2.05071246
129Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.03301530
130Abnormal delayed hypersensitivity skin test (HP:0002963)2.02596457
131Poor coordination (HP:0002370)2.02056468
132Metaphyseal irregularity (HP:0003025)2.00795911
133Thrombophlebitis (HP:0004418)2.00290713
134Gangrene (HP:0100758)2.00076242
135Pancreatic fibrosis (HP:0100732)2.00035984
136Congenital stationary night blindness (HP:0007642)15.3258293
137Astigmatism (HP:0000483)1.99313722
138Growth hormone deficiency (HP:0000824)1.98819922
139Neurofibrillary tangles (HP:0002185)1.96208250
140Dialeptic seizures (HP:0011146)1.95104907
141Severe Myopia (HP:0011003)1.95095829
142Personality changes (HP:0000751)1.95026887
143Chest pain (HP:0100749)1.94463341
144Hemiparesis (HP:0001269)1.91211451
145Glomerulopathy (HP:0100820)1.90784295
146Abnormality of transition element cation homeostasis (HP:0011030)1.88869670
147Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.86325349
148Abnormality of the pleura (HP:0002103)1.85456295
149Vaginal atresia (HP:0000148)1.85341104
150Xanthomatosis (HP:0000991)1.84448906
151Decreased electroretinogram (ERG) amplitude (HP:0000654)1.83566609
152Abnormal pupillary function (HP:0007686)1.83305550
153Axonal loss (HP:0003447)1.82757155
154Genital tract atresia (HP:0001827)1.82475806
155Progressive neurologic deterioration (HP:0002344)1.82359116
156Leukocytosis (HP:0001974)1.81486224
157Chorioretinal coloboma (HP:0000567)1.81367186
158Granulocytopenia (HP:0001913)1.81119416
159Aplasia/Hypoplasia of the lens (HP:0008063)1.80606686
160Subcapsular cataract (HP:0000523)1.80269918
161T lymphocytopenia (HP:0005403)1.79266860
162Abnormality of the thoracic spine (HP:0100711)1.78991696
163Optic disc pallor (HP:0000543)1.76036132
164Aplasia/Hypoplasia of the tongue (HP:0010295)1.74349408
165Abnormality of abdominal situs (HP:0011620)1.74141851
166Abdominal situs inversus (HP:0003363)1.74141851
167Generalized hypopigmentation (HP:0007513)1.73403262
168Prolonged QT interval (HP:0001657)1.72430482
169Abnormality of dental color (HP:0011073)1.70500913
170Pancreatic cysts (HP:0001737)1.66407227
171Wide nasal bridge (HP:0000431)1.56762935
172Dysdiadochokinesis (HP:0002075)1.55246144
173Increased neuronal autofluorescent lipopigment (HP:0002074)1.52927469
174Abnormality of the sella turcica (HP:0002679)1.52298669
175Mutism (HP:0002300)1.49197156
176Focal motor seizures (HP:0011153)1.46756081
177Visual hallucinations (HP:0002367)1.44029177
178Abnormality of midbrain morphology (HP:0002418)1.42558960
179Molar tooth sign on MRI (HP:0002419)1.42558960
180Cystic liver disease (HP:0006706)1.37865736
181Neoplasm of the heart (HP:0100544)1.35677701
182EEG with generalized epileptiform discharges (HP:0011198)1.35182245
183Genetic anticipation (HP:0003743)1.33674159
184Partial agenesis of the corpus callosum (HP:0001338)1.32197658
185Epileptiform EEG discharges (HP:0011182)1.30482404
186Nephronophthisis (HP:0000090)1.29829623
187Optic atrophy (HP:0000648)1.26483874
188Generalized tonic-clonic seizures (HP:0002069)1.24882650
189Widely spaced teeth (HP:0000687)1.23140625
190Atrial fibrillation (HP:0005110)1.22862009
191Abnormality of the renal medulla (HP:0100957)1.21552039
192Decreased testicular size (HP:0008734)1.21516728
193Left ventricular hypertrophy (HP:0001712)1.21513619
194Increased cerebral lipofuscin (HP:0011813)1.19072358
195Abnormality of the parathyroid morphology (HP:0011766)1.17979261
196Primary adrenal insufficiency (HP:0008207)1.17133850

Predicted kinase interactions (KEA)

RankGene SetZ-score
1PBK4.49244377
2RIPK44.01046441
3PRPF4B3.47248333
4GRK13.38499873
5BLK3.02915525
6INSRR2.90824667
7IRAK32.80843592
8MAP2K32.78193497
9PAK62.75813514
10EPHA32.67342437
11MAP4K12.65584919
12TAOK22.62223524
13MAP3K142.58831210
14TYK22.58785736
15ERN12.52179280
16NEK12.50050811
17STK382.28862676
18SIK32.26836081
19DYRK1A2.22850820
20STK38L2.18429363
21ZAP702.09864543
22TBK12.08874480
23CDK32.08099000
24MARK12.07922687
25CSK2.00289964
26CSF1R2.00115532
27PINK11.92640422
28TGFBR21.91686973
29IRAK41.91118657
30KIT1.90622165
31NME21.90284922
32CDK81.86276359
33PHKG11.86036175
34PHKG21.86036175
35TNIK1.85759132
36FGR1.84913136
37SIK21.83861268
38SYK1.73162850
39MATK1.63167093
40MAP3K31.61498880
41TNK21.58259751
42MAP3K111.57075926
43BTK1.48796230
44RIPK11.47626346
45TRIB31.43452368
46MAP3K131.43280761
47FES1.43051285
48IKBKB1.40855852
49GRK61.38430729
50LYN1.38020681
51PKN11.34505873
52GRK71.33350825
53IKBKE1.32292536
54SGK4941.32060714
55SGK2231.32060714
56CLK11.31925970
57DDR21.30860020
58CAMK1D1.30362861
59SIK11.29864597
60CASK1.27003008
61BRD41.26066411
62HCK1.25057819
63MAP3K71.24480659
64JAK31.24299677
65CDK61.23751384
66IRAK21.23330355
67NME11.21671705
68ICK1.20946025
69TESK21.20609741
70CAMK2D1.19573160
71MAP3K41.19036686
72TAOK11.17543843
73PRKAA11.08734263
74PDPK11.08661637
75MAP2K71.08215386
76CAMK1G1.07318988
77LCK1.06357520
78MINK11.06224636
79JAK11.06206624
80CAMK11.04396541
81FGFR41.04079689
82MAP3K11.03102313
83PDK11.02716459
84FGFR31.01560769
85MARK20.97283138
86WNK10.95892215
87PRKD20.94071263
88ITK0.94003793
89JAK20.91347744
90TEC0.89806996
91BMPR20.89449490
92MOS0.89378089
93TXK0.88701695
94AKT30.88208853
95CDK40.83452692
96SGK20.79100739
97PRKG10.76000423
98EPHA40.75626252
99TAOK30.74535863
100MAPK100.74519580
101FER0.73913101
102MAPK130.73273717
103RPS6KA50.72061103
104PRKCE0.71307545
105CAMKK20.71010285
106MAP2K60.70440472
107DYRK1B0.67461888
108PRKAA20.66805400
109TYRO30.66556278
110MAPK110.65859079
111CDK90.62945531
112EEF2K0.62071845
113MAPK70.62020437
114NEK60.61833291
115MAP3K50.61799046
116RPS6KC10.61673489
117RPS6KL10.61673489
118ERBB30.61140713
119CAMK40.60942899
120MAP3K60.60466530
121ZAK0.60429241
122MARK30.60226988
123STK100.59986917
124FLT30.59497313
125PKN20.59105316
126CAMK2A0.58091187
127ADRBK20.57197164
128CDK140.56530472
129PRKCA0.56296216
130GSK3B0.56077812
131CDK50.55842284
132SGK10.55392393
133YES10.54318958
134ERBB20.54148763
135CDK120.53312044
136IRAK10.53275468
137PIK3CG0.52225825
138BMPR1B0.51206248
139KSR20.50441022
140CSNK1D0.50109588
141PRKCB0.49215443
142PRKCG0.49096262
143PRKACA0.49087889
144RPS6KA30.48799161
145RPS6KA60.48676621
146CHUK0.47353450
147PRKCZ0.47101740
148HIPK20.46950635
149NTRK30.46593553
150SGK30.46358109
151MAPK40.46112968
152MAPK140.45280108
153CDK150.44883615
154MAPK90.44588386
155CHEK20.43193374
156ABL20.42796855
157CDC42BPA0.41902907
158CDK180.41773839
159PAK30.41412320
160PIM10.40821859
161NEK90.40638596
162SMG10.40001553
163FYN0.38693624
164ROCK20.38447649
165CDK11A0.38149923
166PRKCQ0.37198427
167MAPKAPK20.37150597
168PLK30.36723810
169RET0.36174441
170PIM20.35939911
171MAPK80.35564825
172MAPK120.34443589
173AKT20.33933800
174NTRK20.33838844
175MAPK30.29301736

Predicted pathways (KEGG)

RankGene SetZ-score
1Phototransduction_Homo sapiens_hsa047447.92631532
2Nicotine addiction_Homo sapiens_hsa050334.72726399
3Other glycan degradation_Homo sapiens_hsa005114.35120205
4GABAergic synapse_Homo sapiens_hsa047273.64350639
5Synaptic vesicle cycle_Homo sapiens_hsa047213.53132497
6Staphylococcus aureus infection_Homo sapiens_hsa051503.32055508
7Morphine addiction_Homo sapiens_hsa050323.24501060
8Retrograde endocannabinoid signaling_Homo sapiens_hsa047233.09039784
9Osteoclast differentiation_Homo sapiens_hsa043802.88859669
10Leishmaniasis_Homo sapiens_hsa051402.81894415
11Circadian rhythm_Homo sapiens_hsa047102.64116249
12Glycosaminoglycan degradation_Homo sapiens_hsa005312.30237045
13Circadian entrainment_Homo sapiens_hsa047132.28073443
14Allograft rejection_Homo sapiens_hsa053302.24412163
15Toll-like receptor signaling pathway_Homo sapiens_hsa046202.23667838
16Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.18960055
17Olfactory transduction_Homo sapiens_hsa047402.18618594
18Graft-versus-host disease_Homo sapiens_hsa053322.12408062
19Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006042.11231341
20Asthma_Homo sapiens_hsa053102.09413616
21Tuberculosis_Homo sapiens_hsa051522.09009916
22NOD-like receptor signaling pathway_Homo sapiens_hsa046211.99385656
23Insulin secretion_Homo sapiens_hsa049111.93418631
24B cell receptor signaling pathway_Homo sapiens_hsa046621.88265710
25NF-kappa B signaling pathway_Homo sapiens_hsa040641.87916139
26Pertussis_Homo sapiens_hsa051331.85228578
27Cholinergic synapse_Homo sapiens_hsa047251.83825315
28Renin secretion_Homo sapiens_hsa049241.74784415
29Malaria_Homo sapiens_hsa051441.72078656
30Legionellosis_Homo sapiens_hsa051341.69870272
31Intestinal immune network for IgA production_Homo sapiens_hsa046721.68702424
32Glutamatergic synapse_Homo sapiens_hsa047241.67504646
33Antigen processing and presentation_Homo sapiens_hsa046121.65940652
34Serotonergic synapse_Homo sapiens_hsa047261.65550478
35Hematopoietic cell lineage_Homo sapiens_hsa046401.64305062
36Complement and coagulation cascades_Homo sapiens_hsa046101.63955389
37Type I diabetes mellitus_Homo sapiens_hsa049401.60015173
38TNF signaling pathway_Homo sapiens_hsa046681.58752658
39Fructose and mannose metabolism_Homo sapiens_hsa000511.57770191
40Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.54930410
41Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.54186010
42Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.52565050
43Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.52063387
44Influenza A_Homo sapiens_hsa051641.51280777
45Acute myeloid leukemia_Homo sapiens_hsa052211.50497352
46Toxoplasmosis_Homo sapiens_hsa051451.49128394
47Salivary secretion_Homo sapiens_hsa049701.48040308
48Fc epsilon RI signaling pathway_Homo sapiens_hsa046641.44955549
49RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.44842367
50Taste transduction_Homo sapiens_hsa047421.43306056
51Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.39037521
52Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.38450575
53Primary immunodeficiency_Homo sapiens_hsa053401.36334030
54Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.29699198
55Phagosome_Homo sapiens_hsa041451.25815142
56T cell receptor signaling pathway_Homo sapiens_hsa046601.23007043
57Herpes simplex infection_Homo sapiens_hsa051681.21359289
58Measles_Homo sapiens_hsa051621.20737032
59Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.19971113
60Salmonella infection_Homo sapiens_hsa051321.18844726
61Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.18825382
62Calcium signaling pathway_Homo sapiens_hsa040201.18812030
63Mineral absorption_Homo sapiens_hsa049781.16951403
64cGMP-PKG signaling pathway_Homo sapiens_hsa040221.16811943
65Collecting duct acid secretion_Homo sapiens_hsa049661.11485137
66Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.10907347
67Dopaminergic synapse_Homo sapiens_hsa047281.09410722
68* Oxytocin signaling pathway_Homo sapiens_hsa049211.08728463
69Jak-STAT signaling pathway_Homo sapiens_hsa046301.08224686
70African trypanosomiasis_Homo sapiens_hsa051431.08002494
71Viral myocarditis_Homo sapiens_hsa054161.07486364
72Aldosterone synthesis and secretion_Homo sapiens_hsa049251.07014407
73Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.01204453
74Hepatitis B_Homo sapiens_hsa051610.99840980
75Carbohydrate digestion and absorption_Homo sapiens_hsa049730.97230391
76Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.97221511
77Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.94730084
78Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.92325007
79Adipocytokine signaling pathway_Homo sapiens_hsa049200.91693932
80Type II diabetes mellitus_Homo sapiens_hsa049300.91511718
81Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.89771499
82VEGF signaling pathway_Homo sapiens_hsa043700.87554295
83Platelet activation_Homo sapiens_hsa046110.86814919
84cAMP signaling pathway_Homo sapiens_hsa040240.82970588
85Non-small cell lung cancer_Homo sapiens_hsa052230.82342774
86* Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.81755598
87ABC transporters_Homo sapiens_hsa020100.80826622
88Hepatitis C_Homo sapiens_hsa051600.79855727
89Shigellosis_Homo sapiens_hsa051310.79352970
90Apoptosis_Homo sapiens_hsa042100.77203911
91Vascular smooth muscle contraction_Homo sapiens_hsa042700.76750406
92* Dilated cardiomyopathy_Homo sapiens_hsa054140.75949213
93Prion diseases_Homo sapiens_hsa050200.75836130
94* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.75068559
95AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.74840099
96Central carbon metabolism in cancer_Homo sapiens_hsa052300.74643146
97Inositol phosphate metabolism_Homo sapiens_hsa005620.73935247
98Bladder cancer_Homo sapiens_hsa052190.72879812
99* Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.71602234
100Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.70490846
101Chronic myeloid leukemia_Homo sapiens_hsa052200.70191478
102Pancreatic cancer_Homo sapiens_hsa052120.69836246
103Phosphatidylinositol signaling system_Homo sapiens_hsa040700.69666787
104Amoebiasis_Homo sapiens_hsa051460.69276752
105Leukocyte transendothelial migration_Homo sapiens_hsa046700.66913670
106Neurotrophin signaling pathway_Homo sapiens_hsa047220.66639402
107* Cardiac muscle contraction_Homo sapiens_hsa042600.66005779
108PPAR signaling pathway_Homo sapiens_hsa033200.63563207
109Epstein-Barr virus infection_Homo sapiens_hsa051690.62022143
110Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.61777533
111SNARE interactions in vesicular transport_Homo sapiens_hsa041300.61108590
112Galactose metabolism_Homo sapiens_hsa000520.60831876
113Sphingolipid signaling pathway_Homo sapiens_hsa040710.60780106
114Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.60639447
115Renin-angiotensin system_Homo sapiens_hsa046140.58546527
116Transcriptional misregulation in cancer_Homo sapiens_hsa052020.57984335
117Biosynthesis of amino acids_Homo sapiens_hsa012300.55941274
118Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.55623696
119Thyroid hormone signaling pathway_Homo sapiens_hsa049190.54412632
120Insulin resistance_Homo sapiens_hsa049310.54364562
121Pentose phosphate pathway_Homo sapiens_hsa000300.53466523
122Axon guidance_Homo sapiens_hsa043600.53173231
123Prolactin signaling pathway_Homo sapiens_hsa049170.51036431
124Long-term depression_Homo sapiens_hsa047300.50678283
125Rheumatoid arthritis_Homo sapiens_hsa053230.48253949
126Sphingolipid metabolism_Homo sapiens_hsa006000.47063563
127Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.47019974
128mTOR signaling pathway_Homo sapiens_hsa041500.46922890
129Gap junction_Homo sapiens_hsa045400.46805466
130HTLV-I infection_Homo sapiens_hsa051660.45675760
131Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.44005852
132Pancreatic secretion_Homo sapiens_hsa049720.43232634
133Retinol metabolism_Homo sapiens_hsa008300.42207346
134HIF-1 signaling pathway_Homo sapiens_hsa040660.40611581
135Viral carcinogenesis_Homo sapiens_hsa052030.40318321
136Alcoholism_Homo sapiens_hsa050340.39977422
137Purine metabolism_Homo sapiens_hsa002300.38093819
138Gastric acid secretion_Homo sapiens_hsa049710.37748299
139Fanconi anemia pathway_Homo sapiens_hsa034600.37302990
140Renal cell carcinoma_Homo sapiens_hsa052110.36796865
141Cocaine addiction_Homo sapiens_hsa050300.36009379
142Vibrio cholerae infection_Homo sapiens_hsa051100.33403002
143Fatty acid biosynthesis_Homo sapiens_hsa000610.33249420
144Notch signaling pathway_Homo sapiens_hsa043300.32858206
145Phospholipase D signaling pathway_Homo sapiens_hsa040720.32647247
146Lysine degradation_Homo sapiens_hsa003100.32139312
147GnRH signaling pathway_Homo sapiens_hsa049120.31575298
148Ovarian steroidogenesis_Homo sapiens_hsa049130.31002580
149FoxO signaling pathway_Homo sapiens_hsa040680.30871103
150Ras signaling pathway_Homo sapiens_hsa040140.29679577
151Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.28932958
152Systemic lupus erythematosus_Homo sapiens_hsa053220.28449937
153Choline metabolism in cancer_Homo sapiens_hsa052310.27989706
154Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.26408727
155Amphetamine addiction_Homo sapiens_hsa050310.25308035
156Melanoma_Homo sapiens_hsa052180.24839299
157Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.24817956
158* MAPK signaling pathway_Homo sapiens_hsa040100.23636523
159Autoimmune thyroid disease_Homo sapiens_hsa053200.23485725
160Chemokine signaling pathway_Homo sapiens_hsa040620.22807117
161AMPK signaling pathway_Homo sapiens_hsa041520.21100815
162Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.20227941
163Glycerophospholipid metabolism_Homo sapiens_hsa005640.20021040
164Longevity regulating pathway - mammal_Homo sapiens_hsa042110.19783217
165Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.19141854
166Lysosome_Homo sapiens_hsa041420.17386359
167ErbB signaling pathway_Homo sapiens_hsa040120.17353041
168Colorectal cancer_Homo sapiens_hsa052100.16489812
169Regulation of autophagy_Homo sapiens_hsa041400.15497097
170Protein digestion and absorption_Homo sapiens_hsa049740.13657659
171Bile secretion_Homo sapiens_hsa049760.12964459
172Wnt signaling pathway_Homo sapiens_hsa043100.12922124
173Vitamin digestion and absorption_Homo sapiens_hsa049770.12413285
174Endocytosis_Homo sapiens_hsa041440.11378320
175Glucagon signaling pathway_Homo sapiens_hsa049220.10025973

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