HRH1

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: Histamine is a ubiquitous messenger molecule released from mast cells, enterochromaffin-like cells, and neurons. Its various actions are mediated by histamine receptors H1, H2, H3 and H4. The protein encoded by this gene is an integral membrane protein and belongs to the G protein-coupled receptor superfamily. It mediates the contraction of smooth muscles, the increase in capillary permeability due to contraction of terminal venules, the release of catecholamine from adrenal medulla, and neurotransmission in the central nervous system. It has been associated with multiple processes, including memory and learning, circadian rhythm, and thermoregulation. It is also known to contribute to the pathophysiology of allergic diseases such as atopic dermatitis, asthma, anaphylaxis and allergic rhinitis. Multiple alternatively spliced variants, encoding the same protein, have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1neurotransmitter-gated ion channel clustering (GO:0072578)6.03397242
2synaptic vesicle docking involved in exocytosis (GO:0016081)5.51692335
3cell adhesion mediated by integrin (GO:0033627)5.35572899
4synaptic vesicle exocytosis (GO:0016079)5.18185160
5adhesion of symbiont to host cell (GO:0044650)5.17666056
6virion attachment to host cell (GO:0019062)5.17666056
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.12542814
8presynaptic membrane assembly (GO:0097105)5.09363243
9glutamate secretion (GO:0014047)5.08934769
10neuron cell-cell adhesion (GO:0007158)4.95218946
11proline transport (GO:0015824)4.94809109
12skin morphogenesis (GO:0043589)4.87308161
13regulation of short-term neuronal synaptic plasticity (GO:0048172)4.81633072
14locomotory exploration behavior (GO:0035641)4.76785891
15vocalization behavior (GO:0071625)4.70758916
16negative regulation of synaptic transmission, GABAergic (GO:0032229)4.64613267
17postsynaptic membrane organization (GO:0001941)4.63056646
18positive regulation of excitatory postsynaptic membrane potential (GO:2000463)4.61607495
19adhesion of symbiont to host (GO:0044406)4.59514068
20presynaptic membrane organization (GO:0097090)4.55091786
21wound healing, spreading of epidermal cells (GO:0035313)4.52530544
22regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.51787067
23positive regulation of cellular amide metabolic process (GO:0034250)4.50319382
24protein localization to synapse (GO:0035418)4.45018841
25regulation of glutamate receptor signaling pathway (GO:1900449)4.42042930
26alanine transport (GO:0032328)4.40454223
27regulation of synaptic vesicle exocytosis (GO:2000300)4.36222059
28regulation of beta-amyloid formation (GO:1902003)4.30896154
29cerebellar granule cell differentiation (GO:0021707)4.29209719
30ionotropic glutamate receptor signaling pathway (GO:0035235)4.28804280
31glutamate receptor signaling pathway (GO:0007215)4.26832229
32synaptic transmission, glutamatergic (GO:0035249)4.26310308
33negative regulation of amyloid precursor protein catabolic process (GO:1902992)4.24974538
34barbed-end actin filament capping (GO:0051016)4.19952291
35neurotransmitter uptake (GO:0001504)4.17992082
36L-amino acid import (GO:0043092)4.02026475
37substrate-dependent cell migration (GO:0006929)3.97358225
38regulation of integrin-mediated signaling pathway (GO:2001044)3.96015829
39G-protein coupled glutamate receptor signaling pathway (GO:0007216)3.95007498
40cellular potassium ion homeostasis (GO:0030007)3.94894984
41hemidesmosome assembly (GO:0031581)3.94155123
42type B pancreatic cell proliferation (GO:0044342)3.89614618
43C4-dicarboxylate transport (GO:0015740)3.86589070
44auditory behavior (GO:0031223)3.86257308
45membrane raft organization (GO:0031579)3.82883836
46neurotransmitter secretion (GO:0007269)3.82735462
47gamma-aminobutyric acid transport (GO:0015812)3.82150951
48neuronal action potential propagation (GO:0019227)3.81624041
49neuron-neuron synaptic transmission (GO:0007270)3.78854466
50negative regulation of astrocyte differentiation (GO:0048712)3.77430200
51protein localization to endosome (GO:0036010)3.75088973
52amino acid import (GO:0043090)3.70822594
53L-serine transport (GO:0015825)3.69471211
54regulation of synaptic vesicle transport (GO:1902803)3.67135616
55keratan sulfate catabolic process (GO:0042340)3.64627362
56endodermal cell differentiation (GO:0035987)3.62594483
57synaptic vesicle maturation (GO:0016188)3.61495435
58gamma-aminobutyric acid signaling pathway (GO:0007214)3.60129970
59positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)3.58565551
60regulation of amyloid precursor protein catabolic process (GO:1902991)3.57568077
61response to auditory stimulus (GO:0010996)3.57437249
62retina vasculature morphogenesis in camera-type eye (GO:0061299)3.56544364
63regulation of metalloenzyme activity (GO:0048552)3.50394654
64positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.50069657
65regulation of synaptic transmission, glutamatergic (GO:0051966)3.49792059
66positive regulation of synapse assembly (GO:0051965)3.48463545
67positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.48065142
68mechanosensory behavior (GO:0007638)3.47943647
69positive regulation of calcium ion-dependent exocytosis (GO:0045956)3.47340176
70regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.45040488
71long-term synaptic potentiation (GO:0060291)3.43152283
72regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.43052710
73transmission of nerve impulse (GO:0019226)3.40947060
74regulation of excitatory postsynaptic membrane potential (GO:0060079)3.38320980
75wound healing, spreading of cells (GO:0044319)3.34020415
76negative regulation of nitric oxide biosynthetic process (GO:0045019)3.31557637
77neurotransmitter transport (GO:0006836)3.29366593
78negative regulation of dendrite development (GO:2000171)3.28726619
79serine transport (GO:0032329)3.27398953
80regulation of postsynaptic membrane potential (GO:0060078)3.24856591
81membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.23590100
82collagen fibril organization (GO:0030199)3.23542880
83* eosinophil chemotaxis (GO:0048245)3.20414407
84regulation of neuronal synaptic plasticity (GO:0048168)3.20176329
85extracellular fibril organization (GO:0043206)3.19814832
86sodium ion export (GO:0071436)3.19386195
87UDP-N-acetylglucosamine metabolic process (GO:0006047)3.16080154
88exploration behavior (GO:0035640)3.15640116
89regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.13841568
90cellular response to vitamin (GO:0071295)3.11154971
91positive regulation of neurotransmitter secretion (GO:0001956)3.11146930
92regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.09724916
93chondrocyte proliferation (GO:0035988)3.09649762
94lung vasculature development (GO:0060426)3.07758775
95fibril organization (GO:0097435)3.05618922
96* response to histamine (GO:0034776)3.04933559
97regulation of membrane protein ectodomain proteolysis (GO:0051043)3.02610424
98regulation of neurotransmitter levels (GO:0001505)3.02552494
99acidic amino acid transport (GO:0015800)3.02413088
100cellular response to vitamin D (GO:0071305)3.00616212
101positive regulation of membrane potential (GO:0045838)3.00517335
102regulation of glutamate secretion (GO:0014048)3.00100775
103regulation of neurotransmitter secretion (GO:0046928)2.99463431
104positive regulation of synapse maturation (GO:0090129)2.98664716
105regulation of cellular amide metabolic process (GO:0034248)2.98294952
106protein hydroxylation (GO:0018126)2.97809115
107synaptic vesicle endocytosis (GO:0048488)2.94766461
108apoptotic cell clearance (GO:0043277)2.94413127
109negative regulation of nitric-oxide synthase activity (GO:0051001)2.94245286
110layer formation in cerebral cortex (GO:0021819)2.92846450
111peptidyl-proline hydroxylation (GO:0019511)2.92840013
112regulation of vitamin D biosynthetic process (GO:0060556)2.92377029
113regulation of vesicle fusion (GO:0031338)2.91129993
114low-density lipoprotein particle remodeling (GO:0034374)2.88996997
115positive regulation of synaptic transmission (GO:0050806)2.87345965
116maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.86428051
117* regulation of synaptic plasticity (GO:0048167)2.84890353
118regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.84775980
119negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)2.84145180
120kidney mesenchyme development (GO:0072074)2.83934906
121regulation of apoptotic process involved in morphogenesis (GO:1902337)2.83755884
122vascular endothelial growth factor signaling pathway (GO:0038084)2.82213828
123startle response (GO:0001964)2.82139141
124female mating behavior (GO:0060180)2.81933683
125synapse assembly (GO:0007416)2.81685870
126regulation of transforming growth factor beta1 production (GO:0032908)2.81677016
127cell communication by electrical coupling (GO:0010644)2.80433027
128pinocytosis (GO:0006907)2.79005748
129lipopolysaccharide biosynthetic process (GO:0009103)2.77723587
130negative regulation of dendrite morphogenesis (GO:0050774)2.76884341
131COPI coating of Golgi vesicle (GO:0048205)2.76753273
132Golgi transport vesicle coating (GO:0048200)2.76753273
133regulation of long-term neuronal synaptic plasticity (GO:0048169)2.76733839
134endothelial cell chemotaxis (GO:0035767)2.76729902
135mesodermal cell differentiation (GO:0048333)2.74914084
136ATP hydrolysis coupled proton transport (GO:0015991)2.74859477
137energy coupled proton transmembrane transport, against electrochemical gradient (GO:0015988)2.74859477
138regulation of female receptivity (GO:0045924)2.74297023
139dermatan sulfate biosynthetic process (GO:0030208)2.74285838
140L-glutamate transport (GO:0015813)2.73948544
141mesenchymal-epithelial cell signaling (GO:0060638)2.72131788
142neuron recognition (GO:0008038)2.71283294
143regulation of synapse maturation (GO:0090128)2.71184306
144positive regulation of neurotransmitter transport (GO:0051590)2.71179041
145dicarboxylic acid transport (GO:0006835)2.71012376
146* eosinophil migration (GO:0072677)2.70843502
147decidualization (GO:0046697)2.70044637
148regulation of synapse assembly (GO:0051963)2.69568203
149activation of protein kinase A activity (GO:0034199)2.69539671
150regulation of respiratory system process (GO:0044065)2.69438526
151regulation of smooth muscle cell migration (GO:0014910)2.69315692
152regulation of voltage-gated calcium channel activity (GO:1901385)2.67219154
153cholesterol catabolic process (GO:0006707)2.67115657
154sterol catabolic process (GO:0016127)2.67115657
155positive regulation of smooth muscle cell migration (GO:0014911)2.66470767
156desmosome organization (GO:0002934)2.65977932
157protein retention in ER lumen (GO:0006621)2.63904975
158dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.62951236
159positive regulation of endothelial cell apoptotic process (GO:2000353)2.61815117
160glomerular visceral epithelial cell development (GO:0072015)2.61368124
161oligosaccharide catabolic process (GO:0009313)2.60855029
162sequestering of extracellular ligand from receptor (GO:0035581)2.60180378
163regulation of mononuclear cell migration (GO:0071675)2.59885028
164platelet-derived growth factor receptor signaling pathway (GO:0048008)2.59134713
165hyaluronan catabolic process (GO:0030214)2.58120022
166positive regulation of receptor recycling (GO:0001921)2.57533244
167endothelial cell morphogenesis (GO:0001886)2.55753567
168collagen metabolic process (GO:0032963)2.55249029
169regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.55061165
170negative regulation of axon extension involved in axon guidance (GO:0048843)2.53542603
171response to gravity (GO:0009629)2.53295551
172heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.53223143
173cellular response to zinc ion (GO:0071294)2.52576780
174regulation of vitamin metabolic process (GO:0030656)2.52035962
175regulation of interleukin-8 secretion (GO:2000482)2.51976996
176dermatan sulfate metabolic process (GO:0030205)2.51845428
177regulation of extracellular matrix disassembly (GO:0010715)2.50220872
178positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.49973445
179sprouting angiogenesis (GO:0002040)2.49752652
180cellular copper ion homeostasis (GO:0006878)2.49671353
181protein heterotrimerization (GO:0070208)2.48720523
182regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.48146121
183glycosphingolipid catabolic process (GO:0046479)2.47948028
184iron ion import (GO:0097286)2.47561740
185positive regulation of p38MAPK cascade (GO:1900745)2.46850381
186cell migration involved in heart development (GO:0060973)2.46845560
187smooth muscle tissue development (GO:0048745)2.46804155
188negative regulation of smooth muscle cell migration (GO:0014912)2.44959230
189negative regulation of mast cell activation (GO:0033004)2.44671674
190muscle cell migration (GO:0014812)2.44653083
191extracellular matrix assembly (GO:0085029)2.44353449
192positive regulation of mitochondrial calcium ion concentration (GO:0051561)2.42616710
193negative regulation of protein localization to plasma membrane (GO:1903077)2.42523766
194collagen catabolic process (GO:0030574)2.42386894
195extracellular matrix disassembly (GO:0022617)2.41446318
196regulation of early endosome to late endosome transport (GO:2000641)2.41077606
197substrate adhesion-dependent cell spreading (GO:0034446)2.40787708
198endothelial cell proliferation (GO:0001935)2.40588893
199sphingosine metabolic process (GO:0006670)2.40409604
200multicellular organismal macromolecule metabolic process (GO:0044259)2.40320345

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human5.49268326
2TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.77689203
3EZH2_22144423_ChIP-Seq_EOC_Human4.32707852
4GBX2_23144817_ChIP-Seq_PC3_Human4.18639114
5SMAD4_19686287_ChIP-ChIP_HaCaT_Human3.65932827
6RARG_19884340_ChIP-ChIP_MEFs_Mouse3.41653944
7CJUN_26792858_Chip-Seq_BT549_Human3.19405375
8SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.16098058
9* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.14668368
10TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.86025592
11GATA2_21666600_ChIP-Seq_HMVEC_Human2.78475791
12JARID2_20064375_ChIP-Seq_MESCs_Mouse2.77192860
13SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.74842335
14SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.74842335
15SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.73586085
16BRD4_25478319_ChIP-Seq_HGPS_Human2.72879517
17RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human2.65433280
18JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.64098407
19SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.63190836
20JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.62939845
21HIF1A_21447827_ChIP-Seq_MCF-7_Human2.58333328
22AR_21572438_ChIP-Seq_LNCaP_Human2.54736738
23* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human2.54268871
24SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.53626817
25REST_21632747_ChIP-Seq_MESCs_Mouse2.52945736
26RNF2_18974828_ChIP-Seq_MESCs_Mouse2.46452037
27EZH2_18974828_ChIP-Seq_MESCs_Mouse2.46452037
28EED_16625203_ChIP-ChIP_MESCs_Mouse2.45275809
29* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.40601588
30* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.36868434
31JARID2_20075857_ChIP-Seq_MESCs_Mouse2.33810637
32CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.31478244
33Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse2.31246220
34* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.30126418
35CTBP2_25329375_ChIP-Seq_LNCAP_Human2.29302193
36CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.26952551
37IKZF1_21737484_ChIP-ChIP_HCT116_Human2.25271033
38PPAR_26484153_Chip-Seq_NCI-H1993_Human2.17463781
39EZH2_27304074_Chip-Seq_ESCs_Mouse2.15915749
40GLI1_17442700_ChIP-ChIP_MESCs_Mouse2.14756474
41FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.11712714
42ZFP322A_24550733_ChIP-Seq_MESCs_Mouse2.06434203
43RNF2_27304074_Chip-Seq_ESCs_Mouse2.02007210
44TAF15_26573619_Chip-Seq_HEK293_Human2.01949958
45REST_18959480_ChIP-ChIP_MESCs_Mouse2.00714423
46DROSHA_22980978_ChIP-Seq_HELA_Human2.00467161
47RARB_27405468_Chip-Seq_BRAIN_Mouse1.97965131
48ESR1_21235772_ChIP-Seq_MCF-7_Human1.96573551
49SMAD_19615063_ChIP-ChIP_OVARY_Human1.92216496
50SOX2_20726797_ChIP-Seq_SW620_Human1.91655882
51SUZ12_27294783_Chip-Seq_ESCs_Mouse1.90073980
52NRF2_20460467_ChIP-Seq_MEFs_Mouse1.87721418
53NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.87721418
54EZH2_27294783_Chip-Seq_ESCs_Mouse1.87560891
55GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.87195608
56* ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.86446858
57NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.84922257
58CTBP1_25329375_ChIP-Seq_LNCAP_Human1.82453192
59ZFP57_27257070_Chip-Seq_ESCs_Mouse1.79838106
60SMAD4_21799915_ChIP-Seq_A2780_Human1.79099134
61SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.77985603
62* CLOCK_20551151_ChIP-Seq_293T_Human1.76816862
63P300_19829295_ChIP-Seq_ESCs_Human1.76160730
64PIAS1_25552417_ChIP-Seq_VCAP_Human1.70551371
65NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.69043546
66ESR2_21235772_ChIP-Seq_MCF-7_Human1.68757739
67CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.66469101
68NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.66437467
69MYB_21317192_ChIP-Seq_ERMYB_Mouse1.65782501
70TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.63837937
71SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.63119375
72CBX2_27304074_Chip-Seq_ESCs_Mouse1.53829662
73SMAD3_21741376_ChIP-Seq_EPCs_Human1.53440003
74AR_25329375_ChIP-Seq_VCAP_Human1.53060777
75* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.52914961
76UBF1/2_26484160_Chip-Seq_HMECs_Human1.52149859
77EP300_21415370_ChIP-Seq_HL-1_Mouse1.51385112
78ELK3_25401928_ChIP-Seq_HUVEC_Human1.50846657
79BP1_19119308_ChIP-ChIP_Hs578T_Human1.46080433
80SALL4_18804426_ChIP-ChIP_XEN_Mouse1.45520822
81PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.45011379
82SOX9_24532713_ChIP-Seq_HFSC_Mouse1.44930202
83KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.44209926
84SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41343869
85RXR_22108803_ChIP-Seq_LS180_Human1.40755766
86NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.40748370
87POU3F2_20337985_ChIP-ChIP_501MEL_Human1.38898621
88RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.38651606
89PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.37336697
90THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.37328410
91ATF3_27146783_Chip-Seq_COLON_Human1.37257811
92FUS_26573619_Chip-Seq_HEK293_Human1.37215055
93OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.36142241
94IRF8_22096565_ChIP-ChIP_GC-B_Human1.34050633
95* SOX2_21211035_ChIP-Seq_LN229_Gbm1.33032746
96IRF8_27001747_Chip-Seq_BMDM_Mouse1.31753164
97TOP2B_26459242_ChIP-Seq_MCF-7_Human1.31126185
98CDX2_19796622_ChIP-Seq_MESCs_Mouse1.30939682
99NR3C1_23031785_ChIP-Seq_PC12_Mouse1.30900004
100* TP63_23658742_ChIP-Seq_EP156T_Human1.30062065
101TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.28185280
102* P63_26484246_Chip-Seq_KERATINOCYTES_Human1.28178074
103TP53_22127205_ChIP-Seq_IMR90_Human1.24970154
104VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.24892828
105TP53_18474530_ChIP-ChIP_U2OS_Human1.24275430
106CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22855219
107TP53_16413492_ChIP-PET_HCT116_Human1.22287911
108WT1_19549856_ChIP-ChIP_CCG9911_Human1.22255761
109MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.21304749
110CDX2_20551321_ChIP-Seq_CACO-2_Human1.20924324
111FOXO3_23340844_ChIP-Seq_DLD1_Human1.20425465
112STAT3_23295773_ChIP-Seq_U87_Human1.19226834
113BCAT_22108803_ChIP-Seq_LS180_Human1.17205566
114NR3C1_21868756_ChIP-Seq_MCF10A_Human1.16980738
115BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.16347258
116ERG_21242973_ChIP-ChIP_JURKAT_Human1.16331681
117NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human1.15921107
118SMC1_22415368_ChIP-Seq_MEFs_Mouse1.15728965
119AR_19668381_ChIP-Seq_PC3_Human1.15605523
120PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.15584081
121VDR_24787735_ChIP-Seq_THP-1_Human1.15549861
122AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.15002227
123KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.14975264
124MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.12548729
125FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human1.12278735
126TCF4_23295773_ChIP-Seq_U87_Human1.11495924
127P300_27058665_Chip-Seq_ZR-75-30cells_Human1.10108675
128SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.09966098
129BMI1_23680149_ChIP-Seq_NPCS_Mouse1.09885989
130ELK1_22589737_ChIP-Seq_MCF10A_Human1.09594102
131ARNT_22903824_ChIP-Seq_MCF-7_Human1.09497870
132TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.07315388
133RING1B_27294783_Chip-Seq_ESCs_Mouse1.06995361
134ZNF217_24962896_ChIP-Seq_MCF-7_Human1.06989879
135UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.06779671
136TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.06351336
137RUNX2_22187159_ChIP-Seq_PCA_Human1.05684029
138AHR_22903824_ChIP-Seq_MCF-7_Human1.05030497
139* EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.05018354
140CSB_26484114_Chip-Seq_FIBROBLAST_Human1.04480222
141IRF8_21731497_ChIP-ChIP_J774_Mouse1.04180181
142STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.03917666
143PRDM14_20953172_ChIP-Seq_ESCs_Human1.03455173
144* YAP1_20516196_ChIP-Seq_MESCs_Mouse1.02668737
145ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.02275466
146POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.01661149
147TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.01661149
148NANOG_18555785_Chip-Seq_ESCs_Mouse1.01609157
149PPARG_20887899_ChIP-Seq_3T3-L1_Mouse1.00752084
150PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.99404403
151STAT6_21828071_ChIP-Seq_BEAS2B_Human0.98909094
152* HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse0.98819043
153TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.98521207
154* TP53_23651856_ChIP-Seq_MEFs_Mouse0.98386114
155RNF2_27304074_Chip-Seq_NSC_Mouse0.98314067
156NFIB_24661679_ChIP-Seq_LUNG_Mouse0.97513285
157ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.96988753
158* ER_23166858_ChIP-Seq_MCF-7_Human0.96472647
159TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.96224081
160P53_22127205_ChIP-Seq_FIBROBLAST_Human0.95519207
161EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.95343771
162VDR_22108803_ChIP-Seq_LS180_Human0.94555351
163ZNF274_21170338_ChIP-Seq_K562_Hela0.94095675
164SMAD3_21741376_ChIP-Seq_ESCs_Human0.93900106
165MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.93339510
166JUN_21703547_ChIP-Seq_K562_Human0.93321516
167UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.93081436
168TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.92931612
169GATA4_25053715_ChIP-Seq_YYC3_Human0.92442804
170TBX20_22328084_ChIP-Seq_HEART_Mouse0.91406132
171TBX20_22080862_ChIP-Seq_HEART_Mouse0.91406132
172E2F1_18555785_Chip-Seq_ESCs_Mouse0.91082367
173EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse0.90692382
174MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human0.90564342
175* LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89866001
176TRIM28_21343339_ChIP-Seq_HEK293_Human0.89623545
177STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.89552151
178CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human0.87182175
179NKX2-5_21415370_ChIP-Seq_HL-1_Mouse0.86563158
180SA1_22415368_ChIP-Seq_MEFs_Mouse0.85552308
181PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.84383153
182IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.84001370
183CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.80211141
184RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.79509557
185NR1I2_20693526_ChIP-Seq_LIVER_Mouse0.78700184
186TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.77926305
187SMC3_22415368_ChIP-Seq_MEFs_Mouse0.77288694
188NFI_21473784_ChIP-Seq_ESCs_Mouse0.76513185
189* PPARD_21283829_ChIP-Seq_MYOFIBROBLAST_Human0.75203172
190FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.75154770
191ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.74678811
192PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.74384644

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen6.53677541
2MP0003880_abnormal_central_pattern4.68139308
3MP0004859_abnormal_synaptic_plasticity4.41298158
4MP0003950_abnormal_plasma_membrane4.22069846
5MP0004272_abnormal_basement_membrane3.73841259
6MP0005275_abnormal_skin_tensile3.62308707
7MP0003635_abnormal_synaptic_transmissio3.54641642
8MP0001968_abnormal_touch/_nociception3.41171920
9MP0009046_muscle_twitch3.37243622
10MP0009745_abnormal_behavioral_response3.23544269
11MP0002064_seizures3.12672902
12MP0005646_abnormal_pituitary_gland3.11395824
13MP0004270_analgesia3.11176475
14MP0002736_abnormal_nociception_after3.09045729
15MP0003705_abnormal_hypodermis_morpholog2.84878194
16MP0003279_aneurysm2.84197767
17* MP0002572_abnormal_emotion/affect_behav2.82690815
18MP0001958_emphysema2.78869411
19* MP0002063_abnormal_learning/memory/cond2.78764943
20MP0001486_abnormal_startle_reflex2.76707631
21MP0003329_amyloid_beta_deposits2.75422281
22MP0010368_abnormal_lymphatic_system2.66065631
23MP0006054_spinal_hemorrhage2.65728749
24MP0003566_abnormal_cell_adhesion2.60973947
25MP0001440_abnormal_grooming_behavior2.58893392
26MP0009780_abnormal_chondrocyte_physiolo2.57523625
27MP0005257_abnormal_intraocular_pressure2.57063529
28MP0005023_abnormal_wound_healing2.49622366
29MP0002254_reproductive_system_inflammat2.45790840
30MP0002734_abnormal_mechanical_nocicepti2.32244930
31MP0003690_abnormal_glial_cell2.30697093
32MP0005503_abnormal_tendon_morphology2.26396055
33MP0001542_abnormal_bone_strength2.24290683
34MP0004885_abnormal_endolymph2.21105094
35MP0002877_abnormal_melanocyte_morpholog2.19658908
36MP0002272_abnormal_nervous_system2.17254432
37MP0002060_abnormal_skin_morphology2.14693918
38MP0002067_abnormal_sensory_capabilities2.13508348
39MP0001501_abnormal_sleep_pattern2.13413571
40MP0000343_altered_response_to2.11162747
41MP0002733_abnormal_thermal_nociception2.10673667
42MP0010352_gastrointestinal_tract_polyps2.07569371
43MP0003183_abnormal_peptide_metabolism2.04424039
44MP0001984_abnormal_olfaction2.03040325
45MP0003091_abnormal_cell_migration2.02704842
46MP0002735_abnormal_chemical_nociception1.97602200
47MP0004858_abnormal_nervous_system1.96429384
48MP0005423_abnormal_somatic_nervous1.95440400
49MP0003191_abnormal_cellular_cholesterol1.92971224
50MP0005165_increased_susceptibility_to1.91209499
51MP0002557_abnormal_social/conspecific_i1.85137138
52MP0002295_abnormal_pulmonary_circulatio1.84774202
53MP0005058_abnormal_lysosome_morphology1.81566221
54MP0006082_CNS_inflammation1.79068440
55MP0001970_abnormal_pain_threshold1.75813780
56MP0005645_abnormal_hypothalamus_physiol1.73361007
57MP0008569_lethality_at_weaning1.71920924
58MP0002896_abnormal_bone_mineralization1.69373819
59MP0004142_abnormal_muscle_tone1.68492562
60MP0005164_abnormal_response_to1.64569017
61MP0000604_amyloidosis1.60137867
62MP0005595_abnormal_vascular_smooth1.59565206
63MP0002909_abnormal_adrenal_gland1.58578907
64MP0003787_abnormal_imprinting1.53941256
65MP0003122_maternal_imprinting1.52833387
66MP0001879_abnormal_lymphatic_vessel1.48945964
67MP0000778_abnormal_nervous_system1.43767008
68MP0009384_cardiac_valve_regurgitation1.43513787
69MP0006276_abnormal_autonomic_nervous1.43513475
70* MP0005386_behavior/neurological_phenoty1.42935907
71* MP0004924_abnormal_behavior1.42935907
72* MP0001502_abnormal_circadian_rhythm1.42689270
73MP0000767_abnormal_smooth_muscle1.41210226
74MP0000751_myopathy1.40328267
75MP0003448_altered_tumor_morphology1.39399213
76MP0003633_abnormal_nervous_system1.38932964
77MP0010234_abnormal_vibrissa_follicle1.38785485
78MP0003828_pulmonary_edema1.35307095
79MP0005508_abnormal_skeleton_morphology1.33015039
80MP0003453_abnormal_keratinocyte_physiol1.31308322
81MP0003879_abnormal_hair_cell1.30342064
82MP0001243_abnormal_dermal_layer1.27653764
83MP0003300_gastrointestinal_ulcer1.27622797
84* MP0002066_abnormal_motor_capabilities/c1.27086852
85MP0005379_endocrine/exocrine_gland_phen1.23009801
86MP0003631_nervous_system_phenotype1.22128690
87MP0010386_abnormal_urinary_bladder1.21672701
88MP0002882_abnormal_neuron_morphology1.21586610
89MP0001529_abnormal_vocalization1.21452094
90MP0005197_abnormal_uvea_morphology1.21180957
91MP0001533_abnormal_skeleton_physiology1.20826617
92MP0003634_abnormal_glial_cell1.17128692
93MP0004233_abnormal_muscle_weight1.16663224
94MP0002998_abnormal_bone_remodeling1.16235705
95MP0002332_abnormal_exercise_endurance1.15852273
96MP0004510_myositis1.15662055
97MP0004947_skin_inflammation1.12589744
98MP0005390_skeleton_phenotype1.12157847
99MP0002148_abnormal_hypersensitivity_rea1.11080622
100MP0005551_abnormal_eye_electrophysiolog1.11046646
101MP0001963_abnormal_hearing_physiology1.10983163
102MP0002184_abnormal_innervation1.08936014
103MP0000955_abnormal_spinal_cord1.08130295
104MP0001905_abnormal_dopamine_level1.06605162
105MP0002876_abnormal_thyroid_physiology1.06349373
106MP0001216_abnormal_epidermal_layer1.04657428
107MP0002796_impaired_skin_barrier1.04512895
108MP0003632_abnormal_nervous_system1.04013293
109MP0002933_joint_inflammation1.03229336
110MP0001853_heart_inflammation1.02324373
111MP0004811_abnormal_neuron_physiology1.01914528
112MP0010771_integument_phenotype1.00444074
113MP0002229_neurodegeneration0.99378108
114MP0000858_altered_metastatic_potential0.98397781
115MP0001485_abnormal_pinna_reflex0.98290659
116MP0004742_abnormal_vestibular_system0.97765315
117MP0000762_abnormal_tongue_morphology0.97256185
118MP0004215_abnormal_myocardial_fiber0.96175107
119MP0002127_abnormal_cardiovascular_syste0.95421086
120MP0009697_abnormal_copulation0.94831199
121MP0003646_muscle_fatigue0.94826285
122MP0005166_decreased_susceptibility_to0.94735195
123MP0002152_abnormal_brain_morphology0.94562893
124MP0003045_fibrosis0.94471199
125MP0009764_decreased_sensitivity_to0.93378960
126MP0008874_decreased_physiological_sensi0.91517851
127MP0003075_altered_response_to0.90453920
128MP0000749_muscle_degeneration0.89579257
129MP0001299_abnormal_eye_distance/0.89542461
130MP0010678_abnormal_skin_adnexa0.89406624
131MP0008004_abnormal_stomach_pH0.87936220
132MP0001188_hyperpigmentation0.86951617
133MP0000249_abnormal_blood_vessel0.85012300
134MP0008872_abnormal_physiological_respon0.84089860
135MP0005360_urolithiasis0.84043680
136MP0000566_synostosis0.82366158
137MP0000163_abnormal_cartilage_morphology0.82326704
138MP0005501_abnormal_skin_physiology0.80849459
139MP0002168_other_aberrant_phenotype0.79297665
140MP0000733_abnormal_muscle_development0.78741777
141MP0003795_abnormal_bone_structure0.77480966
142MP0000013_abnormal_adipose_tissue0.75688332
143MP0002837_dystrophic_cardiac_calcinosis0.75654489
144MP0003806_abnormal_nucleotide_metabolis0.75182834
145MP0001986_abnormal_taste_sensitivity0.74814271
146* MP0002069_abnormal_eating/drinking_beha0.74666362
147MP0000631_abnormal_neuroendocrine_gland0.74632912
148MP0005253_abnormal_eye_physiology0.74099127
149MP0003941_abnormal_skin_development0.73183752
150MP0002822_catalepsy0.71872275
151MP0001614_abnormal_blood_vessel0.71695075
152MP0000639_abnormal_adrenal_gland0.71591409
153MP0000920_abnormal_myelination0.71393125
154MP0008775_abnormal_heart_ventricle0.71173051
155MP0002090_abnormal_vision0.70954195
156MP0004043_abnormal_pH_regulation0.70746180
157MP0005171_absent_coat_pigmentation0.70276014
158MP0004130_abnormal_muscle_cell0.70248569
159MP0001851_eye_inflammation0.70121671
160MP0003136_yellow_coat_color0.69970085
161MP0001191_abnormal_skin_condition0.69959956
162MP0009053_abnormal_anal_canal0.69885735
163MP0005623_abnormal_meninges_morphology0.69342696
164MP0005193_abnormal_anterior_eye0.69140818
165MP0009840_abnormal_foam_cell0.68330710
166MP0000750_abnormal_muscle_regeneration0.68126631
167MP0000026_abnormal_inner_ear0.67863209
168MP0001849_ear_inflammation0.66711846
169MP0005535_abnormal_body_temperature0.66269971
170MP0003878_abnormal_ear_physiology0.65711767
171MP0005377_hearing/vestibular/ear_phenot0.65711767
172MP0005167_abnormal_blood-brain_barrier0.65468007
173MP0000627_abnormal_mammary_gland0.65232196
174MP0009250_abnormal_appendicular_skeleto0.64552287
175MP0002115_abnormal_skeleton_extremities0.63663474
176MP0003137_abnormal_impulse_conducting0.62962393
177MP0002113_abnormal_skeleton_development0.62879767
178MP0008260_abnormal_autophagy0.61889761
179MP0002752_abnormal_somatic_nervous0.61432542
180MP0000003_abnormal_adipose_tissue0.60940485
181MP0009785_altered_susceptibility_to0.60910663
182MP0000538_abnormal_urinary_bladder0.60874658
183MP0003172_abnormal_lysosome_physiology0.60066165
184MP0001177_atelectasis0.59597222
185MP0004145_abnormal_muscle_electrophysio0.59455189
186MP0002653_abnormal_ependyma_morphology0.59327769
187MP0001881_abnormal_mammary_gland0.59058501
188MP0003186_abnormal_redox_activity0.58361608
189MP0002419_abnormal_innate_immunity0.58155406
190MP0002133_abnormal_respiratory_system0.55647037

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.68094128
2Premature rupture of membranes (HP:0001788)6.79237715
3Epileptic encephalopathy (HP:0200134)5.81427388
4Hyperventilation (HP:0002883)5.23210474
5Protrusio acetabuli (HP:0003179)4.94017026
6Atonic seizures (HP:0010819)4.91394783
7Focal seizures (HP:0007359)4.82740109
8Neurofibrillary tangles (HP:0002185)4.44814714
9Abnormality of glycolipid metabolism (HP:0010969)4.36722264
10Abnormality of liposaccharide metabolism (HP:0010968)4.36722264
11Abnormality of glycosphingolipid metabolism (HP:0004343)4.36722264
12Aortic dissection (HP:0002647)4.21940402
13Aplasia involving bones of the extremities (HP:0009825)4.18848430
14Aplasia involving bones of the upper limbs (HP:0009823)4.18848430
15Aplasia of the phalanges of the hand (HP:0009802)4.18848430
16Osteolytic defects of the phalanges of the hand (HP:0009771)4.17069596
17Osteolytic defects of the hand bones (HP:0009699)4.17069596
18Vertebral compression fractures (HP:0002953)4.04102893
19Follicular hyperkeratosis (HP:0007502)4.01500622
20Vascular tortuosity (HP:0004948)3.99896995
21Abnormality of binocular vision (HP:0011514)3.94964314
22Diplopia (HP:0000651)3.94964314
23Cerebral inclusion bodies (HP:0100314)3.91453378
24Arterial tortuosity (HP:0005116)3.89926262
25Atrophic scars (HP:0001075)3.82524901
26Febrile seizures (HP:0002373)3.74556352
27Myokymia (HP:0002411)3.72171069
28Generalized tonic-clonic seizures (HP:0002069)3.68438669
29Cervical subluxation (HP:0003308)3.67393025
30Megalencephaly (HP:0001355)3.62772233
31Vacuolated lymphocytes (HP:0001922)3.55125908
32Hemiparesis (HP:0001269)3.52667636
33Dialeptic seizures (HP:0011146)3.52596101
34Absence seizures (HP:0002121)3.48272011
35Spondylolisthesis (HP:0003302)3.45587500
36Visual hallucinations (HP:0002367)3.42985496
37Axonal loss (HP:0003447)3.35604974
38Aortic aneurysm (HP:0004942)3.24354978
39Abnormal hair whorl (HP:0010721)3.21190328
40Broad-based gait (HP:0002136)3.19228165
41Back pain (HP:0003418)3.17763187
42Clumsiness (HP:0002312)3.16673971
43Abnormality of the axillary hair (HP:0100134)3.15584959
44Abnormality of secondary sexual hair (HP:0009888)3.15584959
45Spinal rigidity (HP:0003306)3.14156140
46Thick nail (HP:0001805)3.13293250
47Progressive cerebellar ataxia (HP:0002073)3.12980482
48Short nail (HP:0001799)3.09889448
49Wormian bones (HP:0002645)3.09432569
50Bladder diverticulum (HP:0000015)3.07069530
51Status epilepticus (HP:0002133)3.05520266
52Soft skin (HP:0000977)3.03427690
53Fragile skin (HP:0001030)3.01505761
54Abnormal eating behavior (HP:0100738)2.96798123
55Dysdiadochokinesis (HP:0002075)2.96570111
56Ankle contracture (HP:0006466)2.91661635
57Polyphagia (HP:0002591)2.88876622
58Hemiplegia (HP:0002301)2.88305164
59Supranuclear gaze palsy (HP:0000605)2.84858788
60Tetraparesis (HP:0002273)2.83539000
61Reduced subcutaneous adipose tissue (HP:0003758)2.80168105
62Truncal ataxia (HP:0002078)2.74680239
63Nuclear cataract (HP:0100018)2.73049943
64Hypoplastic left heart (HP:0004383)2.72650161
65Mitral stenosis (HP:0001718)2.71725249
66Abnormality of proline metabolism (HP:0010907)2.70539970
67Hydroxyprolinuria (HP:0003080)2.70539970
68Cardiovascular calcification (HP:0011915)2.70424798
69Dysostosis multiplex (HP:0000943)2.63093592
70Alopecia of scalp (HP:0002293)2.59856811
71Pseudobulbar signs (HP:0002200)2.58126772
72Gaze-evoked nystagmus (HP:0000640)2.57257113
73Blue sclerae (HP:0000592)2.53152608
74Gait imbalance (HP:0002141)2.51228240
75Narrow nasal bridge (HP:0000446)2.50378855
76Urinary bladder sphincter dysfunction (HP:0002839)2.49528721
77Abnormality of dentin (HP:0010299)2.48582640
78Abnormality of polysaccharide metabolism (HP:0011012)2.46834845
79Abnormality of glycosaminoglycan metabolism (HP:0004371)2.46834845
80Abnormality of mucopolysaccharide metabolism (HP:0011020)2.46834845
81Wrist flexion contracture (HP:0001239)2.46312278
82Epileptiform EEG discharges (HP:0011182)2.40083836
83Urinary glycosaminoglycan excretion (HP:0003541)2.37627949
84Mucopolysacchariduria (HP:0008155)2.37627949
85Impaired vibration sensation in the lower limbs (HP:0002166)2.37472209
86Ovoid vertebral bodies (HP:0003300)2.37027182
87Excessive salivation (HP:0003781)2.33194195
88Drooling (HP:0002307)2.33194195
89Periodontitis (HP:0000704)2.32277071
90Congenital primary aphakia (HP:0007707)2.28599148
91Fetal akinesia sequence (HP:0001989)2.26004645
92Tibial bowing (HP:0002982)2.25677036
93Dilatation of the ascending aorta (HP:0005111)2.24883093
94Systemic lupus erythematosus (HP:0002725)2.24169751
95Dysmetria (HP:0001310)2.23760264
96Genu recurvatum (HP:0002816)2.22166737
97Aortic valve stenosis (HP:0001650)2.20799693
98Cerebral aneurysm (HP:0004944)2.20656391
99Poor eye contact (HP:0000817)2.20598034
100Rigidity (HP:0002063)2.20021841
101Entropion (HP:0000621)2.18213289
102Pheochromocytoma (HP:0002666)2.18138889
103Elbow flexion contracture (HP:0002987)2.18075206
104Vascular calcification (HP:0004934)2.17692748
105Distal lower limb muscle weakness (HP:0009053)2.16528281
106Femoral bowing (HP:0002980)2.15692993
107Bradykinesia (HP:0002067)2.15500049
108Corneal dystrophy (HP:0001131)2.14239992
109EEG with generalized epileptiform discharges (HP:0011198)2.14195020
110Bone cyst (HP:0012062)2.13467087
111Impaired social interactions (HP:0000735)2.13323755
112Abnormal social behavior (HP:0012433)2.13323755
113Hypoplastic heart (HP:0001961)2.13251652
114Protruding tongue (HP:0010808)2.13198460
115Nephrogenic diabetes insipidus (HP:0009806)2.10980603
116Medial flaring of the eyebrow (HP:0010747)2.10324706
117Depression (HP:0000716)2.08926561
118Postural instability (HP:0002172)2.08498034
119Generalized myoclonic seizures (HP:0002123)2.07346367
120Amyloidosis (HP:0011034)2.07253657
121Anxiety (HP:0000739)2.06703904
122Joint stiffness (HP:0001387)2.06553307
123Lower limb muscle weakness (HP:0007340)2.06072799
124Shallow orbits (HP:0000586)2.03461662
125Neuroendocrine neoplasm (HP:0100634)2.03391694
126Long nose (HP:0003189)2.02873593
127Poor suck (HP:0002033)2.01629734
128Hypsarrhythmia (HP:0002521)2.01234575
129Action tremor (HP:0002345)2.01136524
130Insidious onset (HP:0003587)1.99558140
131Termporal pattern (HP:0011008)1.99558140
132Myocardial infarction (HP:0001658)1.99391000
133Slender build (HP:0001533)1.99021268
134Upper motor neuron abnormality (HP:0002127)1.98775863
135Thin bony cortex (HP:0002753)1.98525299
136Absent hair (HP:0002298)1.98184927
137Abnormality of the corticospinal tract (HP:0002492)1.97148291
138Abnormality of the distal phalanges of the toes (HP:0010182)1.97069197
139Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.96176851
140Degeneration of the lateral corticospinal tracts (HP:0002314)1.96176851
141Bradycardia (HP:0001662)1.95366356
142Hyperextensible skin (HP:0000974)1.95351427
143Peritonitis (HP:0002586)1.94024739
144Scanning speech (HP:0002168)1.91578093
145Impaired vibratory sensation (HP:0002495)1.91016135
146Specific learning disability (HP:0001328)1.90769595
147Spastic gait (HP:0002064)1.89826068
148Gait ataxia (HP:0002066)1.88442647
149Thickened helices (HP:0000391)1.88363326
150Amblyopia (HP:0000646)1.88345528
151Blue irides (HP:0000635)1.88208317
152Natal tooth (HP:0000695)1.87362913
153Glucose intolerance (HP:0000833)1.87122562
154Failure to thrive in infancy (HP:0001531)1.86320081
155Delayed gross motor development (HP:0002194)1.85892727
156Aortic regurgitation (HP:0001659)1.84880653
157Mitral regurgitation (HP:0001653)1.84588656
158Generalized amyotrophy (HP:0003700)1.84365799
159Inability to walk (HP:0002540)1.83104378
160Fibular aplasia (HP:0002990)1.82895773
161Abnormality of the middle phalanges of the toes (HP:0010183)1.82785696
162Interstitial pulmonary disease (HP:0006530)1.82266097
163Psychosis (HP:0000709)1.82185443
164Upper limb muscle weakness (HP:0003484)1.82098525
165Upper limb amyotrophy (HP:0009129)1.81538332
166Distal upper limb amyotrophy (HP:0007149)1.81538332
167Multiple lipomas (HP:0001012)1.81091202
168Distal lower limb amyotrophy (HP:0008944)1.80978194
169Aneurysm (HP:0002617)1.80499923
170Stereotypic behavior (HP:0000733)1.80495582
171Dementia (HP:0000726)1.78758958
172Limb ataxia (HP:0002070)1.78681955
173Pulmonary artery stenosis (HP:0004415)1.77109125
174Type 1 muscle fiber predominance (HP:0003803)1.76656747
175Adactyly (HP:0009776)1.74819746
176Hematochezia (HP:0002573)1.74685650
177Zonular cataract (HP:0010920)1.74659613
178Palmoplantar hyperkeratosis (HP:0000972)1.74490373
179Spontaneous hematomas (HP:0007420)1.74403073
180Coxa vara (HP:0002812)1.74128801
181Dysmetric saccades (HP:0000641)1.73894927
182Abnormal trabecular bone morphology (HP:0100671)1.73677282
183Increased connective tissue (HP:0009025)1.73429297
184Pustule (HP:0200039)1.73054738
185Onycholysis (HP:0001806)1.72771350
186Neonatal short-limb short stature (HP:0008921)1.71285606
187Abnormality of glutamine family amino acid metabolism (HP:0010902)1.71146459
188Gingival overgrowth (HP:0000212)1.70757777
189Joint laxity (HP:0001388)1.70632609
190Plantar hyperkeratosis (HP:0007556)1.70102547
191Abnormality of the dental pulp (HP:0006479)1.69844469
192Genital tract atresia (HP:0001827)1.69070244
193Generalized hypotonia (HP:0001290)1.68777857
194Absent frontal sinuses (HP:0002688)1.68223955
195Abnormality of the labia minora (HP:0012880)1.65420996
196Abnormality of saccadic eye movements (HP:0000570)1.65013175
197Vaginal atresia (HP:0000148)1.64936225
198Abnormality of salivation (HP:0100755)1.64613412

Predicted kinase interactions (KEA)

RankGene SetZ-score
1CASK6.47336138
2EPHA45.04515112
3IRAK33.84137327
4EPHA23.71909951
5MST1R3.69312343
6NTRK33.37392717
7TGFBR23.01359238
8DAPK23.01248176
9TNIK2.95874611
10CDK192.83793621
11MAP3K42.73215974
12MUSK2.66215895
13MAP2K72.56621215
14LIMK12.55135705
15MET2.53012774
16MAP3K122.48907394
17DDR22.46236473
18ABL22.37230208
19PTK22.32679064
20TESK12.19086045
21MAP3K92.17487598
22PDGFRA2.16429003
23ERBB42.13568481
24EPHB22.10586638
25NTRK22.08239362
26MAP3K32.04124530
27MOS2.03476341
28PAK41.96550736
29CCNB11.84077578
30OXSR11.82646077
31DAPK11.82029507
32PLK21.80189504
33PRPF4B1.79557410
34PIM21.79360682
35ERN11.73814761
36LATS21.71375011
37MINK11.70805537
38MAP2K41.63809701
39LMTK21.52873880
40PHKG21.52763842
41PHKG11.52763842
42AKT31.50289175
43EPHB11.49739225
44MARK11.49734416
45RIPK11.49013276
46NEK91.40576811
47NME21.31676225
48TTN1.31437708
49PBK1.30316706
50PAK21.30077619
51PAK61.28735325
52CDK51.22802114
53MAPK131.18745502
54PDGFRB1.17282658
55CAMKK21.17030382
56TRPM71.16197080
57TIE11.15410402
58MAPK121.14361126
59PRKCG1.11558594
60GRK51.10473885
61SGK21.08260233
62FER1.07754278
63STK101.05809266
64LATS11.03911362
65SGK4941.01906041
66SGK2231.01906041
67TESK21.00029441
68NTRK11.00001958
69FGR0.99432462
70CAMKK10.98709417
71TNK20.98620685
72CDK80.93710054
73TSSK60.93538101
74* CAMK2A0.92657694
75MAP3K130.92269778
76RIPK40.91052169
77STK30.90569711
78TBK10.89007458
79GRK70.86449717
80CDK30.85186201
81FLT30.83880372
82GSK3A0.83646147
83STK38L0.83189840
84MAP3K140.80766369
85SIK30.79850469
86PRKG20.79465968
87GRK60.79187112
88MAPKAPK30.78430250
89PRKCE0.76561338
90PDK20.74599745
91SGK30.74369065
92NME10.72638581
93ROCK10.70432899
94EIF2AK30.70345096
95FES0.70237922
96ILK0.69927124
97CDK180.69708407
98MST40.69570990
99MAPK70.68742808
100DAPK30.68204553
101KSR20.68184583
102CDK150.65958850
103TGFBR10.65720516
104ARAF0.65420884
105SGK10.64060992
106* ADRBK10.62805890
107PTK2B0.61907249
108KSR10.61239760
109CDK140.60232904
110EIF2AK10.59393083
111STK110.58085672
112CAMK2B0.57703072
113NEK10.56966935
114ADRBK20.56331258
115MELK0.55501834
116SCYL20.54750553
117CDK11A0.53064635
118UHMK10.53011990
119SIK20.51672032
120ERBB30.50318674
121PRKD20.49358715
122JAK10.49238043
123CAMK10.48876326
124EPHA30.48097125
125CDC42BPA0.47481420
126STK240.46958451
127TRIM280.46201443
128PAK30.46117017
129PNCK0.45853225
130PAK10.45690730
131PDPK10.44796650
132CSNK1G20.43630740
133PDK40.43617388
134PDK30.43617388
135ABL10.42167911
136MAP3K60.41430996
137DYRK1A0.41262449
138RPS6KA30.40335995
139TAOK20.39681181
140TAOK10.39354110
141PDK10.39181011
142ZAP700.39024046
143BCR0.38991764
144CAMK40.38911305
145CAMK2G0.38870603
146CAMK2D0.38850281
147BRAF0.37746338
148FGFR10.37425123
149PRKD30.36948549
150MAPKAPK20.36893124
151TYRO30.36651919
152* PRKACA0.36517388
153MAP3K20.36438711
154* PRKCA0.36132531
155MAP3K80.35652580
156STK380.35281592
157PKN10.35092183
158BMX0.35012616
159RAF10.34814228
160BMPR1B0.34268365
161DMPK0.33981425
162ROCK20.33829566
163FYN0.33134649
164BLK0.32942090
165MAPK40.32639760
166MYLK0.30945650
167MAP2K10.30382769
168CAMK1G0.29813194
169BMPR20.29397454
170SIK10.29028863
171PRKCB0.28140068

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.18137737
2Synaptic vesicle cycle_Homo sapiens_hsa047213.55340505
3Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005323.14832118
4Glycosaminoglycan degradation_Homo sapiens_hsa005313.01232294
5ECM-receptor interaction_Homo sapiens_hsa045122.90543713
6Other glycan degradation_Homo sapiens_hsa005112.83255910
7Collecting duct acid secretion_Homo sapiens_hsa049662.59131746
8Lysosome_Homo sapiens_hsa041422.55440341
9Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.53607656
10GABAergic synapse_Homo sapiens_hsa047272.52783251
11Glutamatergic synapse_Homo sapiens_hsa047242.43175437
12Morphine addiction_Homo sapiens_hsa050322.35439952
13Circadian entrainment_Homo sapiens_hsa047132.25870525
14Olfactory transduction_Homo sapiens_hsa047402.22674555
15Fatty acid biosynthesis_Homo sapiens_hsa000612.20534446
16Focal adhesion_Homo sapiens_hsa045102.17845506
17Long-term potentiation_Homo sapiens_hsa047202.14909860
18Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049642.04750563
19Salivary secretion_Homo sapiens_hsa049701.97754514
20Insulin secretion_Homo sapiens_hsa049111.97274116
21Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.97270756
22Amphetamine addiction_Homo sapiens_hsa050311.89761829
23Pertussis_Homo sapiens_hsa051331.89487738
24Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.83991592
25Taste transduction_Homo sapiens_hsa047421.72947988
26Amoebiasis_Homo sapiens_hsa051461.72125334
27Proteoglycans in cancer_Homo sapiens_hsa052051.67227700
28Serotonergic synapse_Homo sapiens_hsa047261.63473853
29Gastric acid secretion_Homo sapiens_hsa049711.62527183
30Sphingolipid metabolism_Homo sapiens_hsa006001.62109959
31Galactose metabolism_Homo sapiens_hsa000521.59057402
32Malaria_Homo sapiens_hsa051441.57958875
33Cocaine addiction_Homo sapiens_hsa050301.57581520
34Salmonella infection_Homo sapiens_hsa051321.52197512
35* Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.51664871
36Bladder cancer_Homo sapiens_hsa052191.48092106
37Shigellosis_Homo sapiens_hsa051311.47937926
38Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.46858698
39Renin secretion_Homo sapiens_hsa049241.44261751
40Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.43707748
41Dopaminergic synapse_Homo sapiens_hsa047281.43603682
42Oxidative phosphorylation_Homo sapiens_hsa001901.41478482
43TNF signaling pathway_Homo sapiens_hsa046681.41189738
44Protein digestion and absorption_Homo sapiens_hsa049741.39093538
45Vibrio cholerae infection_Homo sapiens_hsa051101.39092501
46* Calcium signaling pathway_Homo sapiens_hsa040201.38688027
47Long-term depression_Homo sapiens_hsa047301.38664671
48Complement and coagulation cascades_Homo sapiens_hsa046101.38405873
49Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.36689403
50Nitrogen metabolism_Homo sapiens_hsa009101.35169087
51Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.30038247
52Regulation of actin cytoskeleton_Homo sapiens_hsa048101.29490782
53Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.28835625
54AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.25105885
55Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.22617602
56Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.22373441
57Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.22007605
58Cholinergic synapse_Homo sapiens_hsa047251.20362424
59Cardiac muscle contraction_Homo sapiens_hsa042601.20216778
60Oxytocin signaling pathway_Homo sapiens_hsa049211.16762378
61NF-kappa B signaling pathway_Homo sapiens_hsa040641.13797816
62Circadian rhythm_Homo sapiens_hsa047101.12655506
63Legionellosis_Homo sapiens_hsa051341.10462560
64Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.09576954
65Aldosterone synthesis and secretion_Homo sapiens_hsa049251.09236651
66Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006031.08373073
67cAMP signaling pathway_Homo sapiens_hsa040241.06148185
68Toll-like receptor signaling pathway_Homo sapiens_hsa046201.03318558
69Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.02834598
70Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.02361159
71Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.99944517
72Toxoplasmosis_Homo sapiens_hsa051450.98432026
73Small cell lung cancer_Homo sapiens_hsa052220.97197790
74Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.96184491
75* Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.95542646
76Steroid biosynthesis_Homo sapiens_hsa001000.95096763
77Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.93827099
78GnRH signaling pathway_Homo sapiens_hsa049120.93119051
79Alzheimers disease_Homo sapiens_hsa050100.93078047
80Adherens junction_Homo sapiens_hsa045200.92947569
81N-Glycan biosynthesis_Homo sapiens_hsa005100.91772540
82Endocytosis_Homo sapiens_hsa041440.89094459
83Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.88180560
84Hematopoietic cell lineage_Homo sapiens_hsa046400.85709263
85Leukocyte transendothelial migration_Homo sapiens_hsa046700.85670947
86Gap junction_Homo sapiens_hsa045400.85228553
87Fatty acid metabolism_Homo sapiens_hsa012120.85046478
88Axon guidance_Homo sapiens_hsa043600.84063177
89Osteoclast differentiation_Homo sapiens_hsa043800.82123098
90Fructose and mannose metabolism_Homo sapiens_hsa000510.81918236
91Tuberculosis_Homo sapiens_hsa051520.81863926
92RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.81680288
93PI3K-Akt signaling pathway_Homo sapiens_hsa041510.81414473
94Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.80456834
95Rheumatoid arthritis_Homo sapiens_hsa053230.79588137
96Bile secretion_Homo sapiens_hsa049760.78486490
97Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.77453931
98Proteasome_Homo sapiens_hsa030500.76785782
99Phosphatidylinositol signaling system_Homo sapiens_hsa040700.75726301
100Glutathione metabolism_Homo sapiens_hsa004800.75536621
101NOD-like receptor signaling pathway_Homo sapiens_hsa046210.74588214
102Renal cell carcinoma_Homo sapiens_hsa052110.74509184
103Dorso-ventral axis formation_Homo sapiens_hsa043200.72745394
104Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.72390508
105Phospholipase D signaling pathway_Homo sapiens_hsa040720.71727903
106Apoptosis_Homo sapiens_hsa042100.70519659
107Sulfur metabolism_Homo sapiens_hsa009200.70002243
108Estrogen signaling pathway_Homo sapiens_hsa049150.68870920
109Parkinsons disease_Homo sapiens_hsa050120.68382425
110Vascular smooth muscle contraction_Homo sapiens_hsa042700.68045919
111Dilated cardiomyopathy_Homo sapiens_hsa054140.67401256
112Pancreatic secretion_Homo sapiens_hsa049720.66792242
113Renin-angiotensin system_Homo sapiens_hsa046140.66367811
114Melanogenesis_Homo sapiens_hsa049160.65311597
115Ether lipid metabolism_Homo sapiens_hsa005650.64507017
116Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.63745962
117Hippo signaling pathway_Homo sapiens_hsa043900.63595435
118TGF-beta signaling pathway_Homo sapiens_hsa043500.63251978
119Melanoma_Homo sapiens_hsa052180.61898470
120Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.61220323
121Glycerophospholipid metabolism_Homo sapiens_hsa005640.61206730
122ErbB signaling pathway_Homo sapiens_hsa040120.61104285
123Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.59446160
124Pathways in cancer_Homo sapiens_hsa052000.58409566
125Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.57593317
126Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.57466795
127cGMP-PKG signaling pathway_Homo sapiens_hsa040220.56954971
128Glioma_Homo sapiens_hsa052140.56856977
129SNARE interactions in vesicular transport_Homo sapiens_hsa041300.56432451
130p53 signaling pathway_Homo sapiens_hsa041150.56263638
131Hepatitis C_Homo sapiens_hsa051600.54659296
132Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.54595924
133HIF-1 signaling pathway_Homo sapiens_hsa040660.54033281
134Viral myocarditis_Homo sapiens_hsa054160.53626019
135Type II diabetes mellitus_Homo sapiens_hsa049300.53017020
136Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.51619127
137Pyruvate metabolism_Homo sapiens_hsa006200.51159529
138MicroRNAs in cancer_Homo sapiens_hsa052060.51140939
139Leishmaniasis_Homo sapiens_hsa051400.50506420
140Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.49737295
141Staphylococcus aureus infection_Homo sapiens_hsa051500.49729868
142Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.49530265
143Glucagon signaling pathway_Homo sapiens_hsa049220.49468807
144Thyroid hormone synthesis_Homo sapiens_hsa049180.49357304
145Mineral absorption_Homo sapiens_hsa049780.47973339
146MAPK signaling pathway_Homo sapiens_hsa040100.47025477
147African trypanosomiasis_Homo sapiens_hsa051430.46178456
148Influenza A_Homo sapiens_hsa051640.45809792
149Pancreatic cancer_Homo sapiens_hsa052120.45430492
150Type I diabetes mellitus_Homo sapiens_hsa049400.45295421
151Phagosome_Homo sapiens_hsa041450.43927703
152Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.42423902
153Arachidonic acid metabolism_Homo sapiens_hsa005900.42077024
154Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.40245485
155Carbohydrate digestion and absorption_Homo sapiens_hsa049730.39028030
156Ras signaling pathway_Homo sapiens_hsa040140.38957617
157Folate biosynthesis_Homo sapiens_hsa007900.38395427
1582-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.37906376
159Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.37265067
160PPAR signaling pathway_Homo sapiens_hsa033200.37186619
161Hepatitis B_Homo sapiens_hsa051610.36071501
162Prion diseases_Homo sapiens_hsa050200.36063069
163Phototransduction_Homo sapiens_hsa047440.35854306
164Fatty acid elongation_Homo sapiens_hsa000620.35414593
165Central carbon metabolism in cancer_Homo sapiens_hsa052300.34952433
166Ovarian steroidogenesis_Homo sapiens_hsa049130.33184337
167Thyroid hormone signaling pathway_Homo sapiens_hsa049190.32950017
168Rap1 signaling pathway_Homo sapiens_hsa040150.32437685
169Sphingolipid signaling pathway_Homo sapiens_hsa040710.32212740

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