AVP

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 vasopressin/oxytocin family and preproprotein that is proteolytically processed to generate multiple protein products. These products include the neuropeptide hormone arginine vasopressin, and two other peptides, neurophysin 2 and copeptin. Arginine vasopressin is a posterior pituitary hormone that is synthesized in the supraoptic nucleus and paraventricular nucleus of the hypothalamus. Along with its carrier protein, neurophysin 2, it is packaged into neurosecretory vesicles and transported axonally to the nerve endings in the neurohypophysis where it is either stored or secreted into the bloodstream. The precursor is thought to be activated while it is being transported along the axon to the posterior pituitary. Arginine vasopressin acts as a growth factor by enhancing pH regulation through acid-base transport systems. It has a direct antidiuretic action on the kidney, and also causes vasoconstriction of the peripheral vessels. This hormone can contract smooth muscle during parturition and lactation. It is also involved in cognition, tolerance, adaptation and complex sexual and maternal behaviour, as well as in the regulation of water excretion and cardiovascular functions. Mutations in this gene cause autosomal dominant neurohypophyseal diabetes insipidus (ADNDI). This gene is present in a gene cluster with the related gene oxytocin on chromosome 20. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1mature B cell differentiation involved in immune response (GO:0002313)7.19689192
2positive regulation of growth hormone secretion (GO:0060124)7.13320572
3definitive hemopoiesis (GO:0060216)6.69091376
4* aggressive behavior (GO:0002118)6.55732666
5Peyers patch development (GO:0048541)6.43480599
6mucosal-associated lymphoid tissue development (GO:0048537)6.43480599
7negative regulation of digestive system process (GO:0060457)6.18993357
8positive regulation of synaptic transmission, GABAergic (GO:0032230)6.06483624
9negative regulation of amyloid precursor protein catabolic process (GO:1902992)5.99409431
10synaptic vesicle maturation (GO:0016188)5.88929020
11regulation of short-term neuronal synaptic plasticity (GO:0048172)5.84548942
12regulation of gonadotropin secretion (GO:0032276)5.55587309
13deoxyribonucleoside monophosphate metabolic process (GO:0009162)5.47506224
14mature B cell differentiation (GO:0002335)5.45331192
15negative regulation of necrotic cell death (GO:0060547)5.44639364
16regulation of growth hormone secretion (GO:0060123)5.31922340
17locomotory exploration behavior (GO:0035641)5.24451572
18response to dietary excess (GO:0002021)5.16735616
19positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-5.12796129
20seminiferous tubule development (GO:0072520)5.02373306
21pyrimidine deoxyribonucleotide catabolic process (GO:0009223)4.98787324
22regulation of beta-amyloid formation (GO:1902003)4.92605300
23positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.90182952
24regulation of synaptic vesicle exocytosis (GO:2000300)4.87104255
25regulation of glutamate receptor signaling pathway (GO:1900449)4.82261391
26respiratory system process (GO:0003016)4.82218615
27neurotransmitter secretion (GO:0007269)4.81224718
28neuromuscular process controlling posture (GO:0050884)4.79108236
29regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act4.78343027
30positive regulation of prostaglandin secretion (GO:0032308)4.76682838
31vocalization behavior (GO:0071625)4.70733501
32activation of protein kinase A activity (GO:0034199)4.69051996
33neuron cell-cell adhesion (GO:0007158)4.69020743
34gamma-aminobutyric acid transport (GO:0015812)4.64623977
35mitochondrial calcium ion transport (GO:0006851)4.63845023
36metallo-sulfur cluster assembly (GO:0031163)4.56588301
37iron-sulfur cluster assembly (GO:0016226)4.56588301
38regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.53448321
39regulation of amyloid precursor protein catabolic process (GO:1902991)4.51932800
40endothelium development (GO:0003158)4.45969706
41response to pheromone (GO:0019236)4.39324640
42positive regulation of vascular permeability (GO:0043117)4.25450241
43axonal fasciculation (GO:0007413)4.24612864
44neurotransmitter catabolic process (GO:0042135)4.20219598
45proline transport (GO:0015824)4.15529206
46gamma-aminobutyric acid signaling pathway (GO:0007214)4.12869932
47regulation of synaptic vesicle transport (GO:1902803)4.09578223
48negative regulation of cell size (GO:0045792)4.09111761
49neurotransmitter transport (GO:0006836)4.08204468
50layer formation in cerebral cortex (GO:0021819)4.07321384
51pyrimidine nucleotide catabolic process (GO:0006244)4.03428801
52protein localization to synapse (GO:0035418)4.02922818
53ionotropic glutamate receptor signaling pathway (GO:0035235)4.00424562
54response to interferon-beta (GO:0035456)3.99328316
55positive regulation of excitatory postsynaptic membrane potential (GO:2000463)3.98870051
56regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900151)3.95078946
57positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO3.95078946
58synaptic vesicle docking involved in exocytosis (GO:0016081)3.88905504
59purine nucleotide salvage (GO:0032261)3.87729107
60regulation of prostaglandin secretion (GO:0032306)3.83862220
61negative regulation of B cell apoptotic process (GO:0002903)3.82414013
62cellular response to exogenous dsRNA (GO:0071360)3.82405243
63glutamate secretion (GO:0014047)3.82132521
64* protein kinase C signaling (GO:0070528)3.80964174
65regulation of neurotransmitter levels (GO:0001505)3.80637016
66regulation of necrotic cell death (GO:0010939)3.79643963
67synaptic vesicle exocytosis (GO:0016079)3.79365212
68neuron recognition (GO:0008038)3.76508180
69cerebellar Purkinje cell layer development (GO:0021680)3.76110398
70vesicle transport along microtubule (GO:0047496)3.73716218
71deoxyribonucleotide catabolic process (GO:0009264)3.73457134
72cellular hyperosmotic response (GO:0071474)3.72903008
73post-embryonic morphogenesis (GO:0009886)3.72057217
74exploration behavior (GO:0035640)3.72053317
75regulation of cellular amide metabolic process (GO:0034248)3.70121069
76positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.69707492
77cellular potassium ion homeostasis (GO:0030007)3.69426260
78estrogen biosynthetic process (GO:0006703)3.69317299
79base-excision repair, AP site formation (GO:0006285)3.67174797
80negative regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030948)3.65419254
81regulation of synaptic transmission, GABAergic (GO:0032228)3.63974209
82sodium ion export (GO:0071436)3.61804900
83mating behavior (GO:0007617)3.61487320
84regulation of neuronal synaptic plasticity (GO:0048168)3.60568675
85regulation of penile erection (GO:0060405)3.58827741
86establishment of mitochondrion localization, microtubule-mediated (GO:0034643)3.58693632
87mitochondrion transport along microtubule (GO:0047497)3.58693632
88cellular response to interferon-beta (GO:0035458)3.55342553
89axon cargo transport (GO:0008088)3.54798922
90response to histamine (GO:0034776)3.53231443
91negative regulation of response to food (GO:0032096)3.52350063
92negative regulation of appetite (GO:0032099)3.52350063
93daunorubicin metabolic process (GO:0044597)3.50365447
94polyketide metabolic process (GO:0030638)3.50365447
95doxorubicin metabolic process (GO:0044598)3.50365447
96positive regulation of icosanoid secretion (GO:0032305)3.50007252
97postsynaptic membrane organization (GO:0001941)3.47210031
98cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.45510227
99transmission of nerve impulse (GO:0019226)3.44067670
100nucleotide salvage (GO:0043173)3.43885518
101regulation of antigen processing and presentation of peptide antigen (GO:0002583)3.42854615
102negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)3.38653623
103deoxyribose phosphate catabolic process (GO:0046386)3.38583154
104aerobic respiration (GO:0009060)3.36783789
105sexual reproduction (GO:0019953)3.35022615
106neuronal action potential propagation (GO:0019227)3.34130538
107cell communication by electrical coupling (GO:0010644)3.33768880
108cerebellar Purkinje cell differentiation (GO:0021702)3.30571540
109positive regulation of antigen processing and presentation (GO:0002579)3.30187447
110positive regulation of synaptic transmission (GO:0050806)3.30068810
111pyrimidine deoxyribonucleotide metabolic process (GO:0009219)3.29686808
112dendritic spine morphogenesis (GO:0060997)3.29264987
113immunoglobulin mediated immune response (GO:0016064)3.28888294
114regulation of long-term neuronal synaptic plasticity (GO:0048169)3.28710689
115neuromuscular process controlling balance (GO:0050885)3.28679582
116positive regulation of potassium ion transmembrane transport (GO:1901381)3.28318290
117purine deoxyribonucleotide catabolic process (GO:0009155)3.28246365
118aminoglycoside antibiotic metabolic process (GO:0030647)3.26511200
119positive regulation of potassium ion transmembrane transporter activity (GO:1901018)3.24575958
120cAMP-mediated signaling (GO:0019933)3.24517216
121regulation of dendritic cell antigen processing and presentation (GO:0002604)3.23928487
122response to auditory stimulus (GO:0010996)3.23255885
123potassium ion import (GO:0010107)3.22182619
124long-term memory (GO:0007616)3.21795411
125negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage by p53 class 3.21599455
126glutamate receptor signaling pathway (GO:0007215)3.20868704
127positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.20670131
128glycine transport (GO:0015816)3.20216738
129synaptic transmission, glutamatergic (GO:0035249)3.20149566
130negative regulation of Notch signaling pathway (GO:0045746)3.19391971
131regulation of vesicle fusion (GO:0031338)3.18052156
132dendrite morphogenesis (GO:0048813)3.17056681
133phosphatidylglycerol biosynthetic process (GO:0006655)3.16485518
134positive regulation of fatty acid transport (GO:2000193)3.16033183
135negative regulation of telomere maintenance (GO:0032205)3.15626032
136calcium-mediated signaling using intracellular calcium source (GO:0035584)3.15397467
137positive regulation of B cell differentiation (GO:0045579)3.12606290
138regulation of feeding behavior (GO:0060259)3.12225322
139organelle transport along microtubule (GO:0072384)3.11501947
140mitochondrial calcium ion homeostasis (GO:0051560)3.09728988
141epithelial cell differentiation involved in kidney development (GO:0035850)3.08324029
142phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)3.08237568
143potassium ion homeostasis (GO:0055075)3.06901875
144macrophage differentiation (GO:0030225)3.06094633
145positive regulation of synaptic transmission, dopaminergic (GO:0032226)3.05959663
146* grooming behavior (GO:0007625)3.05466497
147regulation of microtubule-based movement (GO:0060632)3.04813212
148establishment of mitochondrion localization (GO:0051654)2.99608005
149regulation of icosanoid secretion (GO:0032303)2.99298184
150negative regulation of peptide secretion (GO:0002792)2.98201484
151antigen processing and presentation of endogenous antigen (GO:0019883)2.97971888
152thrombin receptor signaling pathway (GO:0070493)2.97452387
153GPI anchor biosynthetic process (GO:0006506)2.95873782
154cell differentiation involved in metanephros development (GO:0072202)2.95645487
155* hyperosmotic salinity response (GO:0042538)2.95628039
156regulation of antigen processing and presentation (GO:0002577)2.94971851
157regulation of respiratory burst (GO:0060263)2.94429322
158pentose metabolic process (GO:0019321)2.93940788
159zinc ion transmembrane transport (GO:0071577)2.91457537
160monoamine transport (GO:0015844)2.90644170
161oxygen transport (GO:0015671)2.89666625
162anterograde axon cargo transport (GO:0008089)2.88652448
163GMP metabolic process (GO:0046037)2.85945847
164synaptic vesicle endocytosis (GO:0048488)2.85409136
165membrane hyperpolarization (GO:0060081)2.85403222
166dosage compensation (GO:0007549)2.85394671
167alanine transport (GO:0032328)2.84614568
168autophagic vacuole fusion (GO:0000046)2.84321432
169* female mating behavior (GO:0060180)2.84027111
170drinking behavior (GO:0042756)2.82927917
171neuron-neuron synaptic transmission (GO:0007270)2.82631686
172regulation of skeletal muscle contraction (GO:0014819)2.82162122
173* intraspecies interaction between organisms (GO:0051703)2.81589630
174* social behavior (GO:0035176)2.81589630
175Arp2/3 complex-mediated actin nucleation (GO:0034314)2.81319865
176positive regulation of uterine smooth muscle contraction (GO:0070474)2.81318647
177membrane depolarization during action potential (GO:0086010)2.81286501
178regulation of synaptic transmission (GO:0050804)2.80869100
179regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)2.80647081
1802-deoxyribonucleotide metabolic process (GO:0009394)2.79432749
181neuronal ion channel clustering (GO:0045161)2.79076752
182regulation of inhibitory postsynaptic membrane potential (GO:0060080)2.78363782
183negative regulation of amino acid transport (GO:0051956)2.76463086
184chaperone mediated protein folding requiring cofactor (GO:0051085)2.75964343
185cellular response to glucagon stimulus (GO:0071377)2.75624832
186positive regulation of mRNA catabolic process (GO:0061014)2.75251993
187regulation of ARF protein signal transduction (GO:0032012)2.74171094
188ubiquinone biosynthetic process (GO:0006744)2.73389696
189sleep (GO:0030431)2.71930381
190neurotransmitter-gated ion channel clustering (GO:0072578)2.71101688
191somatic stem cell division (GO:0048103)2.71038008
192signal release (GO:0023061)2.68979772
193preassembly of GPI anchor in ER membrane (GO:0016254)2.67465304
194negative regulation of nitric oxide biosynthetic process (GO:0045019)2.66095479
195positive regulation of megakaryocyte differentiation (GO:0045654)2.65589383
196regulation of B cell apoptotic process (GO:0002902)2.65058865
197RNA splicing, via endonucleolytic cleavage and ligation (GO:0000394)2.63130527
198tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)2.63130527

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1EZH2_22144423_ChIP-Seq_EOC_Human6.66032060
2TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat5.76640218
3BP1_19119308_ChIP-ChIP_Hs578T_Human5.12590343
4E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse4.38420768
5IRF8_22096565_ChIP-ChIP_GC-B_Human4.29620531
6SCL_19346495_ChIP-Seq_HPC-7_Human3.90800131
7HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse3.84717359
8ELF1_17652178_ChIP-ChIP_JURKAT_Human3.20251118
9* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.01499287
10SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.85163205
11CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons2.83351024
12REST_21632747_ChIP-Seq_MESCs_Mouse2.75881225
13JARID2_20064375_ChIP-Seq_MESCs_Mouse2.73065986
14GBX2_23144817_ChIP-Seq_PC3_Human2.71588913
15NR4A2_19515692_ChIP-ChIP_MN9D_Mouse2.63699703
16IKZF1_21737484_ChIP-ChIP_HCT116_Human2.63279895
17* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.59816218
18* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.58232709
19* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.56470661
20EED_16625203_ChIP-ChIP_MESCs_Mouse2.54871601
21LYL1_20887958_ChIP-Seq_HPC-7_Mouse2.53209622
22ELF1_20517297_ChIP-Seq_JURKAT_Human2.52857640
23DROSHA_22980978_ChIP-Seq_HELA_Human2.45282586
24* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.44559252
25SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.43577380
26REST_18959480_ChIP-ChIP_MESCs_Mouse2.41113645
27EZH2_18974828_ChIP-Seq_MESCs_Mouse2.40374525
28RNF2_18974828_ChIP-Seq_MESCs_Mouse2.40374525
29JARID2_20075857_ChIP-Seq_MESCs_Mouse2.37168034
30GATA1_22025678_ChIP-Seq_K562_Human2.36404867
31VDR_21846776_ChIP-Seq_THP-1_Human2.33772201
32* SUZ12_27294783_Chip-Seq_ESCs_Mouse2.33377770
33RARB_27405468_Chip-Seq_BRAIN_Mouse2.27641165
34TAF15_26573619_Chip-Seq_HEK293_Human2.24778299
35EZH2_27304074_Chip-Seq_ESCs_Mouse2.23661285
36STAT6_21828071_ChIP-Seq_BEAS2B_Human2.22419113
37RUNX1_20887958_ChIP-Seq_HPC-7_Mouse2.19982648
38* EZH2_27294783_Chip-Seq_ESCs_Mouse2.17655626
39PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.16266373
40BCL6_27268052_Chip-Seq_Bcells_Human2.14801030
41E2F7_22180533_ChIP-Seq_HELA_Human1.92184879
42MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.91802342
43EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.90820399
44EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.88786532
45* RNF2_27304074_Chip-Seq_ESCs_Mouse1.86765991
46LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.82019603
47ERG_21242973_ChIP-ChIP_JURKAT_Human1.81642946
48MYC_18358816_ChIP-ChIP_MESCs_Mouse1.81127347
49MYC_18555785_ChIP-Seq_MESCs_Mouse1.80303453
50YY1_22570637_ChIP-Seq_MALME-3M_Human1.77920023
51MYC_22102868_ChIP-Seq_BL_Human1.74487205
52MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.73883548
53CTBP2_25329375_ChIP-Seq_LNCAP_Human1.73050553
54NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.70490750
55ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.70354082
56TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.69415527
57IRF8_21731497_ChIP-ChIP_J774_Mouse1.69411302
58GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.67566942
59ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.67007723
60AR_21572438_ChIP-Seq_LNCaP_Human1.66360329
61GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.64149401
62CIITA_25753668_ChIP-Seq_RAJI_Human1.64033592
63ZFP281_18757296_ChIP-ChIP_E14_Mouse1.63594180
64DNAJC2_21179169_ChIP-ChIP_NT2_Human1.56816320
65JARID1A_20064375_ChIP-Seq_MESCs_Mouse1.54876915
66IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.53323450
67SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.52776422
68E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.52758817
69P68_20966046_ChIP-Seq_HELA_Human1.52524471
70HCFC1_20581084_ChIP-Seq_MESCs_Mouse1.52404835
71FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.52397940
72MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.51925632
73BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.49632212
74BCOR_27268052_Chip-Seq_Bcells_Human1.48304023
75CTCF_18555785_ChIP-Seq_MESCs_Mouse1.47888487
76SMAD4_21799915_ChIP-Seq_A2780_Human1.45239287
77PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.44873536
78CTBP1_25329375_ChIP-Seq_LNCAP_Human1.42095800
79ETS1_20019798_ChIP-Seq_JURKAT_Human1.41997885
80LXR_22292898_ChIP-Seq_THP-1_Human1.41619741
81SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.40641997
82CDX2_19796622_ChIP-Seq_MESCs_Mouse1.38457389
83VDR_24763502_ChIP-Seq_THP-1_Human1.37687462
84IRF8_22096565_ChIP-ChIP_GC-B_Mouse1.37237711
85ZNF274_21170338_ChIP-Seq_K562_Hela1.36136385
86SRF_21415370_ChIP-Seq_HL-1_Mouse1.34358624
87E2F1_20622854_ChIP-Seq_HELA_Human1.33536443
88KDM2B_26808549_Chip-Seq_K562_Human1.31991750
89SA1_27219007_Chip-Seq_ERYTHROID_Human1.31609265
90SPI1_20517297_ChIP-Seq_HL60_Human1.31443789
91CTCF_21964334_ChIP-Seq_BJAB-B_Human1.31208020
92BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.29681302
93* RING1B_27294783_Chip-Seq_ESCs_Mouse1.28164991
94SRY_22984422_ChIP-ChIP_TESTIS_Rat1.27777174
95P300_27268052_Chip-Seq_Bcells_Human1.26662344
96* MYB_26560356_Chip-Seq_TH2_Human1.26440901
97EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.25753754
98MAF_26560356_Chip-Seq_TH1_Human1.25661432
99SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.24843233
100RCOR3_21632747_ChIP-Seq_MESCs_Mouse1.24828946
101* UTX_26944678_Chip-Seq_JUKART_Human1.24492849
102HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.24368858
103RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.23164923
104VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.23104014
105CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.22328622
106TP53_22127205_ChIP-Seq_IMR90_Human1.22125527
107* ESR1_15608294_ChIP-ChIP_MCF-7_Human1.22034923
108MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.20914080
109SOX2_21211035_ChIP-Seq_LN229_Gbm1.20885526
110ERG_20887958_ChIP-Seq_HPC-7_Mouse1.20695199
111MAF_26560356_Chip-Seq_TH2_Human1.19264032
112TET1_21451524_ChIP-Seq_MESCs_Mouse1.19256010
113CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.19088212
114* SPI1_23547873_ChIP-Seq_NB4_Human1.18084095
115PU.1_20513432_ChIP-Seq_Bcells_Mouse1.18056884
116* CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.16034517
117BMI1_23680149_ChIP-Seq_NPCS_Mouse1.14577974
118CTCF_26484167_Chip-Seq_Bcells_Mouse1.14208301
119GATA1_19941826_ChIP-Seq_K562_Human1.11917118
120NR3C1_23031785_ChIP-Seq_PC12_Mouse1.11318261
121CTCF_21964334_Chip-Seq_Bcells_Human1.11151925
122EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.10861774
123SFPI1_20887958_ChIP-Seq_HPC-7_Mouse1.10479500
124PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.10360522
125AR_25329375_ChIP-Seq_VCAP_Human1.09946775
126CTCF_20526341_ChIP-Seq_ESCs_Human1.09720744
127* KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.09428487
128IGF1R_20145208_ChIP-Seq_DFB_Human1.09363714
129P300_19829295_ChIP-Seq_ESCs_Human1.09113910
130FOXP1_21924763_ChIP-Seq_HESCs_Human1.08876884
131FOXP3_21729870_ChIP-Seq_TREG_Human1.07848236
132STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.07792814
133CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.07271593
134WT1_25993318_ChIP-Seq_PODOCYTE_Human1.04381433
135RBPJ_21746931_ChIP-Seq_IB4-LCL_Human1.04375054
136WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.04278300
137PHF8_20622854_ChIP-Seq_HELA_Human1.04202944
138GABP_19822575_ChIP-Seq_HepG2_Human1.03981538
139CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.03933464
140CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.03878182
141PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.03634832
142AR_19668381_ChIP-Seq_PC3_Human1.03346943
143GFI1B_20887958_ChIP-Seq_HPC-7_Mouse1.03240786
144CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.02882601
145RUNX1_22412390_ChIP-Seq_EML_Mouse1.02129281
146TFAP2A_17053090_ChIP-ChIP_MCF-7_Human1.02117129
147GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.01999156
148CTCF_27219007_Chip-Seq_Bcells_Human1.01549239
149RNF2_27304074_Chip-Seq_NSC_Mouse1.00557038
150HOXB4_20404135_ChIP-ChIP_EML_Mouse1.00234428
151VDR_23849224_ChIP-Seq_CD4+_Human1.00058103
152PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse0.99966835
153SMAD3_21741376_ChIP-Seq_EPCs_Human0.99453758
154YY1_21170310_ChIP-Seq_MESCs_Mouse0.98845046
155CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse0.98378522
156MYCN_21190229_ChIP-Seq_SHEP-21N_Human0.98177981
157GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.98115147
158TOP2B_26459242_ChIP-Seq_MCF-7_Human0.97529564
159PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse0.96707105
160CBX2_27304074_Chip-Seq_ESCs_Mouse0.96627973
161MYB_26560356_Chip-Seq_TH1_Human0.96219545
162TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.95807578
163TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.95208517
164THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse0.93565853
165TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human0.92801700
166PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.92341155
167SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.90260409
168P53_22127205_ChIP-Seq_FIBROBLAST_Human0.87275682
169WT1_19549856_ChIP-ChIP_CCG9911_Human0.86489009
170TCF4_23295773_ChIP-Seq_U87_Human0.85854880
171NR3C1_21868756_ChIP-Seq_MCF10A_Human0.85103719
172TRIM28_21343339_ChIP-Seq_HEK293_Human0.85095838
173RING1B_27294783_Chip-Seq_NPCs_Mouse0.85081267
174SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.84962689
175GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.84537720
176PIAS1_25552417_ChIP-Seq_VCAP_Human0.84197178
177RCOR2_21632747_ChIP-Seq_MESCs_Mouse0.84078033
178MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.83677397
179AHR_22903824_ChIP-Seq_MCF-7_Human0.83197550
180ZFP57_27257070_Chip-Seq_ESCs_Mouse0.82795752
181SMAD4_21741376_ChIP-Seq_EPCs_Human0.82206702
182SMAD4_21741376_ChIP-Seq_HESCs_Human0.82113464
183SMARCD1_25818293_ChIP-Seq_ESCs_Mouse0.81765698
184TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.81524828
185YAP1_20516196_ChIP-Seq_MESCs_Mouse0.80989760
186OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse0.79071346
187ZFP281_27345836_Chip-Seq_ESCs_Mouse0.78773514
188ER_23166858_ChIP-Seq_MCF-7_Human0.78667187
189STAT3_23295773_ChIP-Seq_U87_Human0.77835190
190JUN_21703547_ChIP-Seq_K562_Human0.76572111
191* ELK4_26923725_Chip-Seq_MESODERM_Mouse0.76492895
192TET1_21490601_ChIP-Seq_MESCs_Mouse0.76203155

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0009278_abnormal_bone_marrow7.56005204
2MP0002163_abnormal_gland_morphology5.31725931
3MP0005397_hematopoietic_system_phenotyp4.94024106
4MP0001545_abnormal_hematopoietic_system4.94024106
5MP0003806_abnormal_nucleotide_metabolis4.76011109
6MP0004859_abnormal_synaptic_plasticity4.66668646
7MP0003122_maternal_imprinting4.53492135
8MP0003880_abnormal_central_pattern4.41164122
9MP0000465_gastrointestinal_hemorrhage4.19769075
10MP0005379_endocrine/exocrine_gland_phen3.82995324
11MP0002234_abnormal_pharynx_morphology3.57375654
12MP0003635_abnormal_synaptic_transmissio3.41833515
13MP0005423_abnormal_somatic_nervous3.20050742
14* MP0005645_abnormal_hypothalamus_physiol3.13640340
15MP0006292_abnormal_olfactory_placode2.98489627
16MP0002064_seizures2.84716205
17MP0009745_abnormal_behavioral_response2.84092338
18MP0001968_abnormal_touch/_nociception2.69840138
19MP0003718_maternal_effect2.62226874
20MP0004270_analgesia2.53046933
21MP0002063_abnormal_learning/memory/cond2.47046113
22MP0009046_muscle_twitch2.45419701
23MP0003191_abnormal_cellular_cholesterol2.37855029
24MP0002734_abnormal_mechanical_nocicepti2.35227706
25MP0006276_abnormal_autonomic_nervous2.30095359
26MP0002572_abnormal_emotion/affect_behav2.22809219
27MP0003866_abnormal_defecation2.18360857
28MP0003123_paternal_imprinting2.06410994
29MP0001502_abnormal_circadian_rhythm2.03561982
30MP0002272_abnormal_nervous_system2.02349233
31MP0002132_abnormal_respiratory_system2.02203528
32MP0005646_abnormal_pituitary_gland2.02157469
33MP0000751_myopathy1.99896107
34MP0001501_abnormal_sleep_pattern1.99372717
35MP0005464_abnormal_platelet_physiology1.98899818
36MP0008004_abnormal_stomach_pH1.96687362
37MP0001835_abnormal_antigen_presentation1.95897424
38MP0005084_abnormal_gallbladder_morpholo1.92232449
39MP0001984_abnormal_olfaction1.91401314
40MP0003787_abnormal_imprinting1.91082272
41MP0003329_amyloid_beta_deposits1.88980510
42MP0002653_abnormal_ependyma_morphology1.86826805
43MP0002736_abnormal_nociception_after1.82712366
44MP0003724_increased_susceptibility_to1.79376297
45MP0001970_abnormal_pain_threshold1.78576424
46MP0001440_abnormal_grooming_behavior1.77514176
47MP0008961_abnormal_basal_metabolism1.75457364
48MP0005623_abnormal_meninges_morphology1.75134409
49MP0002733_abnormal_thermal_nociception1.74994416
50MP0001664_abnormal_digestion1.72485482
51MP0003121_genomic_imprinting1.70940172
52MP0001486_abnormal_startle_reflex1.67887788
53MP0002396_abnormal_hematopoietic_system1.66000737
54MP0004142_abnormal_muscle_tone1.62451504
55MP0002148_abnormal_hypersensitivity_rea1.60105513
56MP0003868_abnormal_feces_composition1.59885415
57MP0002067_abnormal_sensory_capabilities1.59178418
58MP0004858_abnormal_nervous_system1.58208062
59MP0003690_abnormal_glial_cell1.53428012
60MP0009697_abnormal_copulation1.53239257
61MP0002735_abnormal_chemical_nociception1.52545920
62MP0000778_abnormal_nervous_system1.51381266
63MP0008058_abnormal_DNA_repair1.48415912
64MP0005367_renal/urinary_system_phenotyp1.44594372
65MP0000516_abnormal_urinary_system1.44594372
66MP0009840_abnormal_foam_cell1.44434690
67MP0002557_abnormal_social/conspecific_i1.43100354
68MP0006036_abnormal_mitochondrial_physio1.43044118
69MP0002184_abnormal_innervation1.42492200
70MP0000681_abnormal_thyroid_gland1.42379824
71MP0009379_abnormal_foot_pigmentation1.41823357
72MP0008569_lethality_at_weaning1.41549707
73MP0009780_abnormal_chondrocyte_physiolo1.41309863
74MP0003283_abnormal_digestive_organ1.38014955
75MP0002909_abnormal_adrenal_gland1.35108756
76MP0004811_abnormal_neuron_physiology1.31944032
77MP0005025_abnormal_response_to1.31618388
78MP0004885_abnormal_endolymph1.29979951
79MP0003436_decreased_susceptibility_to1.28410563
80MP0000955_abnormal_spinal_cord1.25001680
81MP0004808_abnormal_hematopoietic_stem1.23490470
82MP0002066_abnormal_motor_capabilities/c1.22924889
83MP0005000_abnormal_immune_tolerance1.22913192
84MP0008875_abnormal_xenobiotic_pharmacok1.22221206
85MP0001764_abnormal_homeostasis1.21699810
86MP0002837_dystrophic_cardiac_calcinosis1.20279541
87MP0002876_abnormal_thyroid_physiology1.17376252
88MP0002398_abnormal_bone_marrow1.17026443
89MP0000639_abnormal_adrenal_gland1.16864509
90MP0004924_abnormal_behavior1.14983605
91MP0005386_behavior/neurological_phenoty1.14983605
92MP0003763_abnormal_thymus_physiology1.13059046
93MP0000631_abnormal_neuroendocrine_gland1.13023058
94MP0002882_abnormal_neuron_morphology1.12149452
95MP0008057_abnormal_DNA_replication1.11024242
96MP0002019_abnormal_tumor_incidence1.10359071
97MP0003186_abnormal_redox_activity1.10115433
98MP0002420_abnormal_adaptive_immunity1.09681293
99MP0001819_abnormal_immune_cell1.09377883
100MP0002822_catalepsy1.09020023
101MP0000689_abnormal_spleen_morphology1.08028405
102MP0001666_abnormal_nutrient_absorption1.06293490
103MP0000747_muscle_weakness1.06164418
104MP0000490_abnormal_crypts_of1.05818391
105MP0002452_abnormal_antigen_presenting1.05156335
106MP0001881_abnormal_mammary_gland1.05155881
107MP0000716_abnormal_immune_system1.03197736
108MP0002723_abnormal_immune_serum1.02808215
109MP0005167_abnormal_blood-brain_barrier1.02711260
110MP0002419_abnormal_innate_immunity1.01927722
111MP0000604_amyloidosis1.01404174
112MP0003633_abnormal_nervous_system1.00176481
113MP0010368_abnormal_lymphatic_system0.97553197
114MP0005670_abnormal_white_adipose0.97153897
115MP0004145_abnormal_muscle_electrophysio0.96418585
116MP0000013_abnormal_adipose_tissue0.94118529
117MP0002429_abnormal_blood_cell0.93316943
118MP0001529_abnormal_vocalization0.92140905
119MP0003634_abnormal_glial_cell0.92109046
120* MP0002152_abnormal_brain_morphology0.90677164
121MP0005394_taste/olfaction_phenotype0.89435825
122MP0005499_abnormal_olfactory_system0.89435825
123MP0002229_neurodegeneration0.88452866
124MP0001905_abnormal_dopamine_level0.88056044
125MP0009765_abnormal_xenobiotic_induced0.87156190
126MP0000920_abnormal_myelination0.86941167
127MP0005410_abnormal_fertilization0.86556504
128MP0003075_altered_response_to0.85995782
129MP0002638_abnormal_pupillary_reflex0.85636822
130* MP0002069_abnormal_eating/drinking_beha0.85232962
131MP0003631_nervous_system_phenotype0.83785089
132MP0002722_abnormal_immune_system0.83736716
133MP0000613_abnormal_salivary_gland0.82088490
134MP0001346_abnormal_lacrimal_gland0.81522857
135MP0009785_altered_susceptibility_to0.81522274
136MP0008872_abnormal_physiological_respon0.81175059
137MP0008469_abnormal_protein_level0.80733072
138MP0003959_abnormal_lean_body0.80413978
139MP0009333_abnormal_splenocyte_physiolog0.79378721
140MP0001299_abnormal_eye_distance/0.78953571
141MP0002928_abnormal_bile_duct0.78630418
142MP0005220_abnormal_exocrine_pancreas0.78464984
143MP0000685_abnormal_immune_system0.77723279
144MP0001188_hyperpigmentation0.77299933
145MP0003879_abnormal_hair_cell0.77164078
146MP0005387_immune_system_phenotype0.77129947
147MP0001790_abnormal_immune_system0.77129947
148MP0005395_other_phenotype0.77092042
149MP0005535_abnormal_body_temperature0.76799508
150MP0003137_abnormal_impulse_conducting0.76444998
151MP0001800_abnormal_humoral_immune0.76268853
152MP0005266_abnormal_metabolism0.76083156
153MP0001177_atelectasis0.75323171
154MP0009764_decreased_sensitivity_to0.75187344
155MP0003632_abnormal_nervous_system0.72260781
156MP0008995_early_reproductive_senescence0.71781794
157MP0008873_increased_physiological_sensi0.70773290
158MP0001851_eye_inflammation0.69661229
159MP0000678_abnormal_parathyroid_gland0.69493417
160MP0006072_abnormal_retinal_apoptosis0.69221331
161MP0001986_abnormal_taste_sensitivity0.68864742
162MP0003303_peritoneal_inflammation0.68530576
163MP0010386_abnormal_urinary_bladder0.67759136
164MP0005165_increased_susceptibility_to0.67036221
165MP0001845_abnormal_inflammatory_respons0.66730657
166MP0004272_abnormal_basement_membrane0.66127502
167MP0010155_abnormal_intestine_physiology0.65280725
168MP0000647_abnormal_sebaceous_gland0.65245988
169MP0005058_abnormal_lysosome_morphology0.65195022
170MP0000230_abnormal_systemic_arterial0.64760207
171MP0008874_decreased_physiological_sensi0.64535981
172MP0008877_abnormal_DNA_methylation0.64319898
173MP0003943_abnormal_hepatobiliary_system0.64094414
174MP0002332_abnormal_exercise_endurance0.63115532
175MP0002089_abnormal_postnatal_growth/wei0.62000011
176MP0005075_abnormal_melanosome_morpholog0.61981707
177MP0000003_abnormal_adipose_tissue0.61861597
178MP0008007_abnormal_cellular_replicative0.61530425
179MP0009763_increased_sensitivity_to0.61399294
180MP0004147_increased_porphyrin_level0.60662491
181MP0005330_cardiomyopathy0.58769958
182MP0005551_abnormal_eye_electrophysiolog0.58514580
183MP0003172_abnormal_lysosome_physiology0.57204405
184MP0001943_abnormal_respiration0.56624451
185MP0001348_abnormal_lacrimal_gland0.51276804

Predicted human phenotypes

RankGene SetZ-score
1Anosmia (HP:0000458)5.96196359
2Atonic seizures (HP:0010819)5.70059117
3Stomatitis (HP:0010280)4.86580560
4Focal seizures (HP:0007359)4.86233879
5Thrombocytosis (HP:0001894)4.61946829
6Abnormal eating behavior (HP:0100738)4.59487591
7Polyphagia (HP:0002591)4.57959205
8Myokymia (HP:0002411)4.53883453
9Focal motor seizures (HP:0011153)4.43633893
10Absence seizures (HP:0002121)4.35596642
11Supranuclear gaze palsy (HP:0000605)4.22837377
12Febrile seizures (HP:0002373)3.91695093
13Generalized tonic-clonic seizures (HP:0002069)3.90812265
14Increased intramyocellular lipid droplets (HP:0012240)3.85858896
15Hypogonadotrophic hypogonadism (HP:0000044)3.85396178
16Visual hallucinations (HP:0002367)3.82901857
17Increased muscle lipid content (HP:0009058)3.82852031
18Microvesicular hepatic steatosis (HP:0001414)3.70567422
19Hypertensive crisis (HP:0100735)3.69692108
20Ankle clonus (HP:0011448)3.66968896
21Mutism (HP:0002300)3.62627162
22Dialeptic seizures (HP:0011146)3.62585183
23Failure to thrive in infancy (HP:0001531)3.58247650
24Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.53189229
25Elevated erythrocyte sedimentation rate (HP:0003565)3.51131756
26Rhabdomyolysis (HP:0003201)3.48478361
27Metaphyseal dysplasia (HP:0100255)3.43406699
28Myoglobinuria (HP:0002913)3.41668383
29Impaired vibration sensation in the lower limbs (HP:0002166)3.40287339
30Abnormal activity of mitochondrial respiratory chain (HP:0011922)3.39651085
31Decreased activity of mitochondrial respiratory chain (HP:0008972)3.39651085
32Decreased electroretinogram (ERG) amplitude (HP:0000654)3.38031690
33Agammaglobulinemia (HP:0004432)3.30821389
34Spontaneous abortion (HP:0005268)3.28494909
35Abnormality of the heme biosynthetic pathway (HP:0010472)3.28095483
36Cerebral aneurysm (HP:0004944)3.25771763
37Seborrheic dermatitis (HP:0001051)3.21202025
38Anxiety (HP:0000739)3.19738106
39Chronic obstructive pulmonary disease (HP:0006510)3.16507016
40Obstructive lung disease (HP:0006536)3.16507016
41Panhypogammaglobulinemia (HP:0003139)3.15444065
42Hyperglycinuria (HP:0003108)3.12767255
43Oligomenorrhea (HP:0000876)3.08749390
44Neurofibrillary tangles (HP:0002185)3.07972117
45Agitation (HP:0000713)3.07393893
46Hyperglycinemia (HP:0002154)3.04727878
47Diaphragmatic weakness (HP:0009113)3.03313740
48Dicarboxylic aciduria (HP:0003215)3.00889299
49Abnormality of dicarboxylic acid metabolism (HP:0010995)3.00889299
50Abnormal rod and cone electroretinograms (HP:0008323)2.98146751
51Epileptic encephalopathy (HP:0200134)2.95113779
52Ventricular fibrillation (HP:0001663)2.94399092
53Truncal ataxia (HP:0002078)2.93695133
54Insomnia (HP:0100785)2.93309295
55Depression (HP:0000716)2.93033730
56Abnormal pupillary function (HP:0007686)2.93001015
57Progressive inability to walk (HP:0002505)2.90902143
58Increased neuronal autofluorescent lipopigment (HP:0002074)2.87621832
59Neuronal loss in central nervous system (HP:0002529)2.84943148
60Aplastic anemia (HP:0001915)2.83661739
61Dysmetria (HP:0001310)2.82594898
62Xerostomia (HP:0000217)2.81024389
63Hepatocellular necrosis (HP:0001404)2.78680890
64Hypoventilation (HP:0002791)2.77540135
65Decreased central vision (HP:0007663)2.76712769
66Hyperthyroidism (HP:0000836)2.75042300
67Psychosis (HP:0000709)2.72879388
68Type I transferrin isoform profile (HP:0003642)2.70247579
69Spastic gait (HP:0002064)2.68850512
70Urinary bladder sphincter dysfunction (HP:0002839)2.66320211
71Papilledema (HP:0001085)2.65908014
72Areflexia of lower limbs (HP:0002522)2.64148155
73Pheochromocytoma (HP:0002666)2.64018044
74Dysautonomia (HP:0002459)2.63550034
75Abnormal hair whorl (HP:0010721)2.60937300
76Postural instability (HP:0002172)2.58898027
77Absent rod-and cone-mediated responses on ERG (HP:0007688)2.58174234
78Dysdiadochokinesis (HP:0002075)2.58084551
79Hepatosplenomegaly (HP:0001433)2.57900076
80Cerebral inclusion bodies (HP:0100314)2.57628573
81Hepatic necrosis (HP:0002605)2.57031256
82Abnormal delayed hypersensitivity skin test (HP:0002963)2.55796294
83Increased cerebral lipofuscin (HP:0011813)2.55253020
84Hemiplegia (HP:0002301)2.53805455
85Abnormality of the labia minora (HP:0012880)2.52829936
86Prolonged bleeding time (HP:0003010)2.50227140
87Abnormality of B cell number (HP:0010975)2.50089403
88Macroorchidism (HP:0000053)2.49980238
89Mediastinal lymphadenopathy (HP:0100721)2.48378657
90Diplopia (HP:0000651)2.48039744
91Abnormality of binocular vision (HP:0011514)2.48039744
92Abnormality of pain sensation (HP:0010832)2.48031190
93Impaired pain sensation (HP:0007328)2.48031190
94Abnormality of the lower motor neuron (HP:0002366)2.46598818
95Exercise-induced myalgia (HP:0003738)2.46004974
96Neuroendocrine neoplasm (HP:0100634)2.45411157
97Generalized hypotonia (HP:0001290)2.43792215
98Mitochondrial inheritance (HP:0001427)2.42674374
99Hypercortisolism (HP:0001578)2.42263452
100Abnormality of glycine metabolism (HP:0010895)2.41603717
101Abnormality of serine family amino acid metabolism (HP:0010894)2.41603717
102Ketoacidosis (HP:0001993)2.39544650
103Urticaria (HP:0001025)2.38871896
104Abnormal mitochondria in muscle tissue (HP:0008316)2.38585913
105Increased IgM level (HP:0003496)2.35274441
106Hemiparesis (HP:0001269)2.34604335
107Congenital stationary night blindness (HP:0007642)2.34274907
108Lower limb muscle weakness (HP:0007340)2.32185372
109Narrow nasal bridge (HP:0000446)2.29918676
110Recurrent fungal infections (HP:0002841)2.29638915
111Ragged-red muscle fibers (HP:0003200)2.29421287
112Abnormal protein glycosylation (HP:0012346)2.29273883
113Abnormal glycosylation (HP:0012345)2.29273883
114Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.29273883
115Abnormal protein N-linked glycosylation (HP:0012347)2.29273883
116Progressive cerebellar ataxia (HP:0002073)2.28893502
117Action tremor (HP:0002345)2.28659559
118Bradykinesia (HP:0002067)2.27365098
119Epistaxis (HP:0000421)2.26738543
120Sleep apnea (HP:0010535)2.26112523
121Menstrual irregularities (HP:0000858)2.22342073
122Aplasia involving bones of the upper limbs (HP:0009823)2.20884177
123Aplasia of the phalanges of the hand (HP:0009802)2.20884177
124Aplasia involving bones of the extremities (HP:0009825)2.20884177
125Poor eye contact (HP:0000817)2.19924290
126Clonus (HP:0002169)2.19775431
127Pancytopenia (HP:0001876)2.19213322
128Muscle fiber atrophy (HP:0100295)2.18984717
129Impaired social interactions (HP:0000735)2.18270025
130Abnormal social behavior (HP:0012433)2.18270025
131Recurrent viral infections (HP:0004429)2.17881177
132Chronic otitis media (HP:0000389)2.16393335
133B lymphocytopenia (HP:0010976)2.16291654
134Fatigue (HP:0012378)2.15909853
135Abnormality of calcium-phosphate metabolism (HP:0100530)2.15362789
136Slow saccadic eye movements (HP:0000514)2.12037174
137Muscle abnormality related to mitochondrial dysfunction (HP:0003800)2.11962337
138Orthostatic hypotension (HP:0001278)2.11011258
139Broad-based gait (HP:0002136)2.08800087
140Ulnar claw (HP:0001178)2.08372386
141Tubulointerstitial nephritis (HP:0001970)2.06717333
142Aplasia/Hypoplasia of the thymus (HP:0010515)2.06283907
143Excessive salivation (HP:0003781)2.06116925
144Drooling (HP:0002307)2.06116925
145Urinary urgency (HP:0000012)2.05601906
146Sensorimotor neuropathy (HP:0007141)2.05426530
147Petechiae (HP:0000967)2.04755015
148Torticollis (HP:0000473)2.03950779
149Myositis (HP:0100614)2.03669982
150Turricephaly (HP:0000262)2.02766854
151Abnormality of saccadic eye movements (HP:0000570)2.02313820
152Abnormality of the prostate (HP:0008775)2.01342078
153Restlessness (HP:0000711)1.99995526
154Intention tremor (HP:0002080)1.99521911
155Centrally nucleated skeletal muscle fibers (HP:0003687)1.99326542
156Abnormality of macular pigmentation (HP:0008002)1.98589649
157Hypergammaglobulinemia (HP:0010702)1.98343172
158Peripheral hypomyelination (HP:0007182)1.97831824
159Stomach cancer (HP:0012126)1.97420025
160Cellulitis (HP:0100658)1.96677558
161Reduced antithrombin III activity (HP:0001976)1.96275761
162Muscle stiffness (HP:0003552)1.95685754
163Flat capital femoral epiphysis (HP:0003370)1.95306582
164Abnormal EKG (HP:0003115)1.95105302
165Megalencephaly (HP:0001355)1.93996184
166Cleft eyelid (HP:0000625)1.93575678
167Exercise intolerance (HP:0003546)1.91843520
168Progressive microcephaly (HP:0000253)1.91075474
169Apathy (HP:0000741)1.90977809
170Chest pain (HP:0100749)1.90796710
171Poor suck (HP:0002033)1.89468092
172Ketosis (HP:0001946)1.89253329
173Gingival bleeding (HP:0000225)1.88925418
174Open mouth (HP:0000194)1.87761576
175Genetic anticipation (HP:0003743)1.87004689
176Cerebral palsy (HP:0100021)1.86884488
177Termporal pattern (HP:0011008)1.83914956
178Insidious onset (HP:0003587)1.83914956
179Craniofacial dystonia (HP:0012179)1.83429189
180Amyotrophic lateral sclerosis (HP:0007354)1.82982804
181Rapidly progressive (HP:0003678)1.82945639
182Postural tremor (HP:0002174)1.81895986
183Abnormality of T cell physiology (HP:0011840)1.81549590
184Status epilepticus (HP:0002133)1.81540292
185Focal dystonia (HP:0004373)1.81174711
186Episodic fever (HP:0001954)1.80649583
187Prolonged neonatal jaundice (HP:0006579)1.80069648
188Stroke (HP:0001297)1.79889965
189Acute hepatic failure (HP:0006554)1.79506880
190Rigidity (HP:0002063)1.79430527
191Meningitis (HP:0001287)1.79193746
192Exertional dyspnea (HP:0002875)1.79086037
193Slow progression (HP:0003677)1.78990902
194Abnormality of the vocal cords (HP:0008777)1.78223416
195Amelogenesis imperfecta (HP:0000705)1.78198655
196Ventricular arrhythmia (HP:0004308)1.77721304
197Amaurosis fugax (HP:0100576)1.76604382
198Abnormality of the tricuspid valve (HP:0001702)1.75162661
199Abnormality of the 4th metacarpal (HP:0010012)1.74360782

Predicted kinase interactions (KEA)

RankGene SetZ-score
1NTRK35.17399752
2TAOK35.11549766
3MAP4K14.34605036
4KDR3.74313822
5MARK13.70273805
6NTRK23.56639769
7MAP3K123.26195503
8MAP3K43.01194892
9MINK12.87734477
10MAP3K92.69361561
11MAP2K42.62190448
12VRK22.61506514
13EPHA42.46414159
14KIT2.43839043
15ZAK2.19665932
16PAK62.13386111
17NTRK12.07918260
18MAP2K72.02399044
19PHKG11.96310506
20PHKG21.96310506
21TBK11.94632910
22DYRK1B1.93692232
23TIE11.93235848
24UHMK11.86785264
25FLT31.81540488
26TNK21.81178020
27JAK31.80202962
28NUAK11.79885102
29TESK21.79155511
30NME21.78911158
31LMTK21.73788537
32PBK1.71565692
33MAP2K31.55532129
34CDK51.52225755
35CDK191.49216768
36LATS21.49173651
37DAPK21.46589914
38GRK61.45763913
39CAMKK11.45070230
40MAP3K71.42785328
41TAOK21.41850019
42PRKD21.39509252
43PRKCH1.39452201
44FES1.35100108
45SIK21.28851872
46MAP3K141.24842389
47PAK31.23565575
48TNIK1.23296989
49IKBKB1.21992111
50MAP2K21.21480851
51PNCK1.21283905
52CDC42BPA1.19962939
53CAMK2A1.15873843
54RPS6KB21.15798714
55TSSK61.15598593
56MAPKAPK31.15310158
57BTK1.14283515
58ALK1.08758426
59PRKCG1.08376724
60CAMK2B1.07921444
61CAMK1G1.06503248
62PIK3CG1.03305806
63STK41.03114784
64PRKD31.02941388
65CAMK2G1.01997516
66MATK1.01442402
67GRK51.00661493
68MAPK131.00174255
69VRK10.97098137
70WNK30.95536268
71CDC70.95053854
72CAMK10.94939552
73PIM20.94587667
74KSR20.93759614
75CAMK2D0.92715215
76OXSR10.92635311
77STK110.87941146
78STK380.87727139
79IKBKE0.83417648
80CAMK1D0.81347997
81TAOK10.81096543
82CAMKK20.80350374
83MAP3K20.77498073
84CSF1R0.77347462
85TEC0.76619221
86SYK0.76200029
87SGK2230.74212364
88SGK4940.74212364
89CDK150.74191740
90MAPK150.73312486
91SCYL20.71841375
92CDK180.71451439
93CDK140.71425850
94MAP3K60.70883399
95LIMK10.70198417
96FER0.69603494
97TYRO30.68073071
98BCKDK0.66179763
99RET0.65838910
100TESK10.65741913
101RPS6KA30.63603530
102PLK20.61431110
103ARAF0.61329593
104PKN10.61325811
105RPS6KA50.59570213
106CDK11A0.59542532
107BMX0.58877033
108ABL20.58854748
109ROCK10.58068764
110SMG10.57981345
111CHEK20.57360799
112BRSK10.56737537
113AKT30.56185391
114LCK0.55766934
115TLK10.55494584
116ATR0.55240018
117MAPK100.54992421
118DAPK10.54574676
119RPS6KA60.53180689
120DDR20.53077234
121RPS6KC10.52752252
122RPS6KL10.52752252
123DYRK1A0.51828587
124MAP3K10.51604873
125PRKG20.51213185
126FYN0.51130963
127PDPK10.50415011
128INSRR0.49541164
129ROCK20.49211811
130SGK30.49199088
131MARK20.48670753
132RPS6KA20.48669308
133TXK0.48604200
134MAP2K60.48395441
135PRKCA0.47028067
136PIM10.46766569
137MAPK30.46708757
138PRKCE0.46541624
139CDK90.46339711
140CCNB10.46084797
141BMPR1B0.45063067
142SGK10.44157619
143CDK70.43911696
144PDGFRA0.43225313
145MAP3K110.43122686
146AURKB0.43102620
147FGFR20.42843323
148NEK20.42513259
149MAPKAPK50.41936854
150GRK70.41746690
151PRKACA0.41373812
152CSNK1G20.41270093
153PRKACG0.40470171
154ADRBK20.40392301
155MAP3K80.40324121
156PRKCQ0.39765649
157PRKCD0.39538811
158MAP4K20.39526413
159ADRBK10.39446312
160MAP3K130.39032106
161FGR0.38868796
162NME10.38682904
163PRKCZ0.38411574
164ERBB30.37851746
165SRC0.36887754
166SGK20.35976193
167PDK10.35862776
168PRKCB0.35782767
169LRRK20.35494695
170MAP3K50.35373295
171DAPK30.33614638
172DYRK20.33543021
173LYN0.32840294
174AKT20.32704993
175MAPK110.32408201
176MAP3K30.32400307
177AURKA0.32309486
178PTK2B0.31258176
179CDK80.30131111
180TAF10.29396474
181JAK20.28036496
182PRKD10.25334900
183HIPK20.24252405

Predicted pathways (KEGG)

RankGene SetZ-score
1Nicotine addiction_Homo sapiens_hsa050334.16680329
2GABAergic synapse_Homo sapiens_hsa047273.80073263
3Base excision repair_Homo sapiens_hsa034103.46696153
4Pentose phosphate pathway_Homo sapiens_hsa000303.42702943
5Fatty acid elongation_Homo sapiens_hsa000623.24264603
6Synaptic vesicle cycle_Homo sapiens_hsa047213.04321512
7Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005633.01694833
8Morphine addiction_Homo sapiens_hsa050322.72275061
9* Vasopressin-regulated water reabsorption_Homo sapiens_hsa049622.71260974
10Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.52234946
11Allograft rejection_Homo sapiens_hsa053302.44649170
12Olfactory transduction_Homo sapiens_hsa047402.44455380
13Asthma_Homo sapiens_hsa053102.40809277
14Circadian entrainment_Homo sapiens_hsa047132.34948870
15DNA replication_Homo sapiens_hsa030302.27012474
16Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.23413286
17Primary immunodeficiency_Homo sapiens_hsa053402.22062204
18Nitrogen metabolism_Homo sapiens_hsa009102.16699649
19Glutamatergic synapse_Homo sapiens_hsa047242.10648050
20Ribosome_Homo sapiens_hsa030102.08845334
21Autoimmune thyroid disease_Homo sapiens_hsa053202.01658791
22Graft-versus-host disease_Homo sapiens_hsa053321.99888739
23Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.98383832
24Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006301.94236914
25Intestinal immune network for IgA production_Homo sapiens_hsa046721.93556181
26Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.91862481
27Amphetamine addiction_Homo sapiens_hsa050311.88178164
28Taste transduction_Homo sapiens_hsa047421.85447132
29Mismatch repair_Homo sapiens_hsa034301.85291143
30Cocaine addiction_Homo sapiens_hsa050301.84826127
31Long-term potentiation_Homo sapiens_hsa047201.84465371
32Insulin secretion_Homo sapiens_hsa049111.82535120
33Fanconi anemia pathway_Homo sapiens_hsa034601.82385418
34Salivary secretion_Homo sapiens_hsa049701.78890798
35Peroxisome_Homo sapiens_hsa041461.77697648
36Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.74978070
37Gastric acid secretion_Homo sapiens_hsa049711.71416081
38Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.70617555
39Dopaminergic synapse_Homo sapiens_hsa047281.68019860
40Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.65376174
41Fatty acid metabolism_Homo sapiens_hsa012121.64666380
42Renin secretion_Homo sapiens_hsa049241.57307956
43Carbon metabolism_Homo sapiens_hsa012001.55634405
44One carbon pool by folate_Homo sapiens_hsa006701.54872689
45Steroid hormone biosynthesis_Homo sapiens_hsa001401.46310455
46Cholinergic synapse_Homo sapiens_hsa047251.46123764
47Arachidonic acid metabolism_Homo sapiens_hsa005901.44310663
48Cardiac muscle contraction_Homo sapiens_hsa042601.44010340
49Homologous recombination_Homo sapiens_hsa034401.43708119
50Collecting duct acid secretion_Homo sapiens_hsa049661.40029986
51Aldosterone synthesis and secretion_Homo sapiens_hsa049251.39956740
52Antigen processing and presentation_Homo sapiens_hsa046121.38371254
53Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.38216354
54RIG-I-like receptor signaling pathway_Homo sapiens_hsa046221.37113669
55Serotonergic synapse_Homo sapiens_hsa047261.34522464
56Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.34235546
57Long-term depression_Homo sapiens_hsa047301.33154775
58Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.33124224
59Biosynthesis of amino acids_Homo sapiens_hsa012301.30915266
60Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.29907194
61Fructose and mannose metabolism_Homo sapiens_hsa000511.29049314
62Herpes simplex infection_Homo sapiens_hsa051681.27873373
63Bile secretion_Homo sapiens_hsa049761.27693840
64Estrogen signaling pathway_Homo sapiens_hsa049151.27660672
65Systemic lupus erythematosus_Homo sapiens_hsa053221.27650552
66Vibrio cholerae infection_Homo sapiens_hsa051101.24187792
67Leishmaniasis_Homo sapiens_hsa051401.23860917
68GnRH signaling pathway_Homo sapiens_hsa049121.22945845
69Oxidative phosphorylation_Homo sapiens_hsa001901.21777278
70Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.18138600
71Oxytocin signaling pathway_Homo sapiens_hsa049211.17977531
72Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.14895782
73Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.14106904
74Platelet activation_Homo sapiens_hsa046111.13799226
75Pyrimidine metabolism_Homo sapiens_hsa002401.12325923
76alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.11819259
77Type I diabetes mellitus_Homo sapiens_hsa049401.09514815
78Nucleotide excision repair_Homo sapiens_hsa034201.08301533
79Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.07136935
80Prion diseases_Homo sapiens_hsa050201.03605453
81Transcriptional misregulation in cancer_Homo sapiens_hsa052021.00259614
82Gap junction_Homo sapiens_hsa045401.00214215
83Fatty acid degradation_Homo sapiens_hsa000710.99622559
84Calcium signaling pathway_Homo sapiens_hsa040200.99336836
85Thyroid hormone synthesis_Homo sapiens_hsa049180.99169665
86Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.97847185
87Phototransduction_Homo sapiens_hsa047440.97529791
88Type II diabetes mellitus_Homo sapiens_hsa049300.95954339
89SNARE interactions in vesicular transport_Homo sapiens_hsa041300.95658607
90cAMP signaling pathway_Homo sapiens_hsa040240.94903368
91Parkinsons disease_Homo sapiens_hsa050120.94714538
92Axon guidance_Homo sapiens_hsa043600.93184593
93Dilated cardiomyopathy_Homo sapiens_hsa054140.92363545
942-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.91547259
95Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.91129185
96Hematopoietic cell lineage_Homo sapiens_hsa046400.90786595
97Phosphatidylinositol signaling system_Homo sapiens_hsa040700.89633240
98Tyrosine metabolism_Homo sapiens_hsa003500.88945497
99Staphylococcus aureus infection_Homo sapiens_hsa051500.87972223
100Glutathione metabolism_Homo sapiens_hsa004800.87770672
101Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.85998485
102Alzheimers disease_Homo sapiens_hsa050100.84714594
103Chemical carcinogenesis_Homo sapiens_hsa052040.83506642
104Butanoate metabolism_Homo sapiens_hsa006500.82220236
105Melanogenesis_Homo sapiens_hsa049160.82135716
106Glycerophospholipid metabolism_Homo sapiens_hsa005640.81926921
107Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.80889684
108Linoleic acid metabolism_Homo sapiens_hsa005910.79473401
109Viral myocarditis_Homo sapiens_hsa054160.78423216
110Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.78401173
111Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.77276283
112* Phospholipase D signaling pathway_Homo sapiens_hsa040720.77204598
113Regulation of autophagy_Homo sapiens_hsa041400.75892265
114Vascular smooth muscle contraction_Homo sapiens_hsa042700.75830513
115NOD-like receptor signaling pathway_Homo sapiens_hsa046210.75172932
116Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.75094194
117Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.75041951
118Maturity onset diabetes of the young_Homo sapiens_hsa049500.74240969
119Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.73821605
120Arginine biosynthesis_Homo sapiens_hsa002200.73807901
121Ovarian steroidogenesis_Homo sapiens_hsa049130.73256961
122Spliceosome_Homo sapiens_hsa030400.72641187
123Glucagon signaling pathway_Homo sapiens_hsa049220.71714764
124Huntingtons disease_Homo sapiens_hsa050160.69916488
125Drug metabolism - other enzymes_Homo sapiens_hsa009830.69721265
126Purine metabolism_Homo sapiens_hsa002300.69430860
127Acute myeloid leukemia_Homo sapiens_hsa052210.68663905
128Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.65477056
129Oocyte meiosis_Homo sapiens_hsa041140.64007239
130Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.63946515
131Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.63721797
132Metabolic pathways_Homo sapiens_hsa011000.63294055
133Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.62888998
134RNA degradation_Homo sapiens_hsa030180.62166189
135Ether lipid metabolism_Homo sapiens_hsa005650.61260703
136Dorso-ventral axis formation_Homo sapiens_hsa043200.60433708
137Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.59319460
138Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.59143413
139Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.58797707
140Glycerolipid metabolism_Homo sapiens_hsa005610.57995855
141Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.57945553
142Pancreatic secretion_Homo sapiens_hsa049720.57677791
143MAPK signaling pathway_Homo sapiens_hsa040100.56855031
144Other glycan degradation_Homo sapiens_hsa005110.56579329
145Glioma_Homo sapiens_hsa052140.54788955
146ErbB signaling pathway_Homo sapiens_hsa040120.54666456
147cGMP-PKG signaling pathway_Homo sapiens_hsa040220.52657548
148N-Glycan biosynthesis_Homo sapiens_hsa005100.52637004
149Choline metabolism in cancer_Homo sapiens_hsa052310.52230397
150Fatty acid biosynthesis_Homo sapiens_hsa000610.50355088
151Selenocompound metabolism_Homo sapiens_hsa004500.45379409
152Carbohydrate digestion and absorption_Homo sapiens_hsa049730.44571725
153Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.44316021
154Starch and sucrose metabolism_Homo sapiens_hsa005000.43770480
155Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.43152938
156Galactose metabolism_Homo sapiens_hsa000520.42852828
157Insulin signaling pathway_Homo sapiens_hsa049100.40442679
158Alcoholism_Homo sapiens_hsa050340.40246554
159Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.38981055
160Neurotrophin signaling pathway_Homo sapiens_hsa047220.38810474
161Pertussis_Homo sapiens_hsa051330.38756229
162Pentose and glucuronate interconversions_Homo sapiens_hsa000400.37148095
163Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.35485513
164Influenza A_Homo sapiens_hsa051640.33074057
165Toxoplasmosis_Homo sapiens_hsa051450.32866071
166Lysosome_Homo sapiens_hsa041420.32088342
167Propanoate metabolism_Homo sapiens_hsa006400.31425922
168Phenylalanine metabolism_Homo sapiens_hsa003600.30201140
169Tryptophan metabolism_Homo sapiens_hsa003800.29944595
170Shigellosis_Homo sapiens_hsa051310.29479703
171Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.29327169
172Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.28984185
173Primary bile acid biosynthesis_Homo sapiens_hsa001200.28740971
174Ras signaling pathway_Homo sapiens_hsa040140.28258472
175Phagosome_Homo sapiens_hsa041450.27655405
176Renal cell carcinoma_Homo sapiens_hsa052110.27124613
177African trypanosomiasis_Homo sapiens_hsa051430.26286917
178Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.25056197
179Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.23818279
180Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.23590363
181Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.21622950
182Endocytosis_Homo sapiens_hsa041440.20570031
183Rheumatoid arthritis_Homo sapiens_hsa053230.20496818

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