JAM2

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 belongs to the immunoglobulin superfamily, and the junctional adhesion molecule (JAM) family. The protein encoded by this gene is a type I membrane protein that is localized at the tight junctions of both epithelial and endothelial cells. It acts as an adhesive ligand for interacting with a variety of immune cell types, and may play a role in lymphocyte homing to secondary lymphoid organs. Alternatively spliced transcript variants have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1central nervous system myelination (GO:0022010)5.74924288
2axon ensheathment in central nervous system (GO:0032291)5.74924288
3regulation of cardioblast differentiation (GO:0051890)5.22395749
4atrioventricular valve morphogenesis (GO:0003181)4.94971792
5postsynaptic membrane organization (GO:0001941)4.77492022
6presynaptic membrane assembly (GO:0097105)4.50099405
7negative regulation of astrocyte differentiation (GO:0048712)4.47309042
8negative regulation of oligodendrocyte differentiation (GO:0048715)4.41625290
9limb bud formation (GO:0060174)4.36403739
10regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO4.30663786
11presynaptic membrane organization (GO:0097090)4.18732307
12epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)4.17599116
13neuronal action potential propagation (GO:0019227)4.12126781
14paraxial mesoderm development (GO:0048339)4.06127033
15cardiac myofibril assembly (GO:0055003)4.04054518
16basement membrane organization (GO:0071711)4.02502631
17gamma-aminobutyric acid transport (GO:0015812)3.90572095
18endocardial cushion development (GO:0003197)3.87034907
19blood vessel maturation (GO:0001955)3.79684092
20anterior/posterior axis specification, embryo (GO:0008595)3.79031360
21regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)3.76590107
22atrial septum morphogenesis (GO:0060413)3.74447104
23lymph vessel development (GO:0001945)3.73690830
24pyrimidine nucleobase catabolic process (GO:0006208)3.73521013
25regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.71163540
26somite development (GO:0061053)3.69340518
27cell communication by electrical coupling involved in cardiac conduction (GO:0086064)3.69285617
28sarcomere organization (GO:0045214)3.65329442
29cell communication by electrical coupling (GO:0010644)3.57609973
30regulation of actin filament-based movement (GO:1903115)3.54715308
31vascular endothelial growth factor signaling pathway (GO:0038084)3.54268566
32otic vesicle formation (GO:0030916)3.53380294
33regulation of secondary heart field cardioblast proliferation (GO:0003266)3.52847899
34regulation of cardioblast proliferation (GO:0003264)3.52847899
35negative regulation of cardiac muscle tissue growth (GO:0055022)3.52421766
36negative regulation of heart growth (GO:0061117)3.52421766
37lateral sprouting from an epithelium (GO:0060601)3.52397965
38venous blood vessel morphogenesis (GO:0048845)3.52356428
39cardiac chamber formation (GO:0003207)3.46436713
40detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.42976164
41heart trabecula formation (GO:0060347)3.41919425
42cerebral cortex radially oriented cell migration (GO:0021799)3.41188576
43regulation of cardiac muscle cell contraction (GO:0086004)3.40347766
44neuronal stem cell maintenance (GO:0097150)3.38803042
45notochord development (GO:0030903)3.32915556
46cell migration involved in heart development (GO:0060973)3.32314733
47regulation of SMAD protein import into nucleus (GO:0060390)3.29394892
48negative regulation of potassium ion transmembrane transport (GO:1901380)3.27541987
49positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)3.27138659
50regulation of endothelial cell differentiation (GO:0045601)3.26173864
51negative regulation of potassium ion transmembrane transporter activity (GO:1901017)3.25683464
52intraciliary transport (GO:0042073)3.23290315
53nonmotile primary cilium assembly (GO:0035058)3.21838160
54auditory behavior (GO:0031223)3.21526611
55cardiac septum development (GO:0003279)3.20279010
56lymphangiogenesis (GO:0001946)3.17141707
57myofibril assembly (GO:0030239)3.15781878
58epithelial cilium movement (GO:0003351)3.15408855
59cardiac muscle contraction (GO:0060048)3.15406305
60plasma membrane repair (GO:0001778)3.14445566
61regulation of sarcomere organization (GO:0060297)3.14353331
62regulation of relaxation of muscle (GO:1901077)3.14345617
63heart valve formation (GO:0003188)3.12911946
64negative regulation of axon guidance (GO:1902668)3.12138356
65regulation of vascular permeability (GO:0043114)3.11326042
66negative regulation of glial cell differentiation (GO:0045686)3.10563445
67axonal fasciculation (GO:0007413)3.09257118
68positive regulation of SMAD protein import into nucleus (GO:0060391)3.08121461
69ventricular septum development (GO:0003281)3.06339424
70cerebral cortex neuron differentiation (GO:0021895)3.05277235
71dendritic spine morphogenesis (GO:0060997)3.05197724
72neuron cell-cell adhesion (GO:0007158)3.04857397
73vascular smooth muscle contraction (GO:0014829)3.04127758
74regulation of oligodendrocyte differentiation (GO:0048713)3.03231833
75retinal ganglion cell axon guidance (GO:0031290)3.01992250
76forebrain neuron differentiation (GO:0021879)3.01277237
77regulation of non-canonical Wnt signaling pathway (GO:2000050)3.01272209
78regulation of skeletal muscle contraction (GO:0014819)2.99625178
79regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)2.99378831
80cardiac muscle hypertrophy (GO:0003300)2.99191601
81cell communication involved in cardiac conduction (GO:0086065)2.97116185
82retina vasculature morphogenesis in camera-type eye (GO:0061299)2.94785536
83behavioral response to nicotine (GO:0035095)2.94768474
84membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.93486785
85heart trabecula morphogenesis (GO:0061384)2.93196892
86mechanosensory behavior (GO:0007638)2.93065974
87cellular response to cholesterol (GO:0071397)2.92058176
88negative regulation of mesenchymal cell apoptotic process (GO:2001054)2.90035069
89regulation of membrane repolarization (GO:0060306)2.89785622
90nucleobase catabolic process (GO:0046113)2.89382564
91carnitine shuttle (GO:0006853)2.89228931
92positive regulation of male gonad development (GO:2000020)2.88730677
93tongue development (GO:0043586)2.88302210
94appendage development (GO:0048736)2.88037760
95limb development (GO:0060173)2.88037760
96negative regulation of synaptic transmission, glutamatergic (GO:0051967)2.87617033
97striated muscle hypertrophy (GO:0014897)2.87047370
98regulation of cilium movement (GO:0003352)2.86668216
99response to pheromone (GO:0019236)2.85291059
100positive regulation of amino acid transport (GO:0051957)2.84126662
101transmission of nerve impulse (GO:0019226)2.84080432
102pericardium development (GO:0060039)2.82580476
103neuroblast proliferation (GO:0007405)2.81438699
104potassium ion import (GO:0010107)2.81040011
105cardiac muscle cell development (GO:0055013)2.79999194
106regulation of astrocyte differentiation (GO:0048710)2.79939314
107dermatan sulfate biosynthetic process (GO:0030208)2.79789061
108cGMP-mediated signaling (GO:0019934)2.79346905
109positive regulation of cardiac muscle tissue growth (GO:0055023)2.78771056
110cardiac ventricle formation (GO:0003211)2.76975035
111heart valve morphogenesis (GO:0003179)2.76175497
112neuron recognition (GO:0008038)2.75325870
113regulation of axon guidance (GO:1902667)2.75055040
114positive regulation of cardiac muscle cell proliferation (GO:0060045)2.74729747
115regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.74459389
116vocalization behavior (GO:0071625)2.74061105
117fibroblast migration (GO:0010761)2.74008547
118startle response (GO:0001964)2.73309791
119spinal cord development (GO:0021510)2.72147098
120detection of mechanical stimulus involved in sensory perception (GO:0050974)2.71949613
121inner ear receptor stereocilium organization (GO:0060122)2.71610819
122cardiac cell development (GO:0055006)2.70733665
123response to auditory stimulus (GO:0010996)2.69610556
124endothelial tube morphogenesis (GO:0061154)2.69467170
125morphogenesis of an endothelium (GO:0003159)2.69467170
126negative regulation of transcription regulatory region DNA binding (GO:2000678)2.69429403
127regulation of cell proliferation involved in heart morphogenesis (GO:2000136)2.69124575
128negative regulation of neurotransmitter transport (GO:0051589)2.68836937
129glomerular filtration (GO:0003094)2.68082126
130negative regulation of axon extension involved in axon guidance (GO:0048843)2.68029646
131ventricular trabecula myocardium morphogenesis (GO:0003222)2.67907200
132G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.67833754
133cellular response to sterol (GO:0036315)2.66934933
134cellular response to vascular endothelial growth factor stimulus (GO:0035924)2.66877024
135Notch signaling involved in heart development (GO:0061314)2.66544769
136fatty acid transmembrane transport (GO:1902001)2.64177756
137actin-myosin filament sliding (GO:0033275)2.63551939
138muscle filament sliding (GO:0030049)2.63551939
139central nervous system projection neuron axonogenesis (GO:0021952)2.62414234
140regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)2.62156678
141cell migration involved in sprouting angiogenesis (GO:0002042)2.62123875
142cardiac muscle tissue morphogenesis (GO:0055008)2.60591881
143ovulation from ovarian follicle (GO:0001542)2.59612662
144atrial cardiac muscle cell action potential (GO:0086014)2.58798032
145cardiac muscle cell action potential (GO:0086001)2.58054041
146cilium movement (GO:0003341)2.57818183
147adult heart development (GO:0007512)2.57395139
148regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00432.56535264
149cilium organization (GO:0044782)2.55781614
150neurotransmitter-gated ion channel clustering (GO:0072578)2.55438239
151cardiac right ventricle morphogenesis (GO:0003215)2.54904097
152smoothened signaling pathway (GO:0007224)2.54663033
153cilium assembly (GO:0042384)2.54611866
154endothelium development (GO:0003158)2.54573862
155urinary tract smooth muscle contraction (GO:0014848)2.54462333
156embryonic placenta development (GO:0001892)2.54257822
157regulation of tight junction assembly (GO:2000810)2.53923236
158trabecula morphogenesis (GO:0061383)2.53653189
159hippo signaling (GO:0035329)2.53636480
160ventricular cardiac muscle cell action potential (GO:0086005)2.53523431
161ventricular cardiac muscle tissue morphogenesis (GO:0055010)2.53452907
162regulation of cell communication by electrical coupling (GO:0010649)2.53018322
163actomyosin structure organization (GO:0031032)2.52251169
164cilium morphogenesis (GO:0060271)2.51889544
165renal filtration (GO:0097205)2.50354406
166negative regulation of Rho protein signal transduction (GO:0035024)2.49978120
167endothelial cell morphogenesis (GO:0001886)2.49860579
168adherens junction assembly (GO:0034333)2.48493686
169sarcoplasmic reticulum calcium ion transport (GO:0070296)2.48454277
170positive regulation of neuroblast proliferation (GO:0002052)2.47797257
171cell-cell signaling involved in cell fate commitment (GO:0045168)2.47278356
172nucleus localization (GO:0051647)2.47274079
173negative regulation of vascular permeability (GO:0043116)2.47031101
174C4-dicarboxylate transport (GO:0015740)2.46732270
175endothelial cell differentiation (GO:0045446)2.46496664
176dermatan sulfate metabolic process (GO:0030205)2.44940025
177establishment of nucleus localization (GO:0040023)2.44660469
178nephron tubule formation (GO:0072079)2.43765850
179negative regulation of cytosolic calcium ion concentration (GO:0051481)2.43707458
180regulation of axon extension involved in axon guidance (GO:0048841)2.43645372
181regulation of respiratory gaseous exchange by neurological system process (GO:0002087)2.42745078
182vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.42131937
183cochlea development (GO:0090102)2.41683933
184regulation of male gonad development (GO:2000018)2.40606113
185neuromuscular synaptic transmission (GO:0007274)2.40012095
186regulation of vasculogenesis (GO:2001212)2.39412655
187neuron fate determination (GO:0048664)2.37517896
188olfactory bulb development (GO:0021772)2.36961023
189ionotropic glutamate receptor signaling pathway (GO:0035235)2.36706556
190eye photoreceptor cell differentiation (GO:0001754)2.36163156
191photoreceptor cell differentiation (GO:0046530)2.36163156
192astrocyte differentiation (GO:0048708)2.36013292
193glutamate receptor signaling pathway (GO:0007215)2.35983491
194developmental induction (GO:0031128)2.35455201
195hindbrain development (GO:0030902)2.35205099
196cell proliferation in forebrain (GO:0021846)2.33047470
197positive regulation of oligodendrocyte differentiation (GO:0048714)2.32903184

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1* SMAD3_22036565_ChIP-Seq_ESCs_Mouse3.91276497
2NANOG_18700969_ChIP-ChIP_MESCs_Mouse3.58731674
3KLF2_18264089_ChIP-ChIP_MESCs_Mouse3.39594832
4KLF5_18264089_ChIP-ChIP_MESCs_Mouse3.39594832
5KLF4_18264089_ChIP-ChIP_MESCs_Mouse3.39594832
6TRIM28_21343339_ChIP-Seq_HEK293_Human3.15289532
7SOX2_18358816_ChIP-ChIP_MESCs_Mouse2.87550571
8ZIC3_20872845_ChIP-ChIP_MESCs_Mouse2.72757771
9POU5F1_18700969_ChIP-ChIP_MESCs_Mouse2.67040627
10ZFP57_27257070_Chip-Seq_ESCs_Mouse2.63539785
11TP63_17297297_ChIP-ChIP_HaCaT_Human2.62376106
12NACC1_18358816_ChIP-ChIP_MESCs_Mouse2.61294120
13SALL1_21062744_ChIP-ChIP_HESCs_Human2.61069851
14EP300_21415370_ChIP-Seq_HL-1_Mouse2.51914393
15* SALL4_18804426_ChIP-ChIP_MESCs_Mouse2.48887314
16* TCF3_18692474_ChIP-Seq_MEFs_Mouse2.40414511
17CBX2_27304074_Chip-Seq_ESCs_Mouse2.28140056
18TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.22730034
19* SMAD1_18555785_ChIP-Seq_MESCs_Mouse2.22320522
20CTBP2_25329375_ChIP-Seq_LNCAP_Human2.18943049
21* TCF3_18692474_ChIP-Seq_MESCs_Mouse2.17364887
22VDR_22108803_ChIP-Seq_LS180_Human2.16716353
23POU3F2_20337985_ChIP-ChIP_501MEL_Human2.11712210
24TAF15_26573619_Chip-Seq_HEK293_Human2.06623879
25ZNF274_21170338_ChIP-Seq_K562_Hela2.04846319
26FUS_26573619_Chip-Seq_HEK293_Human2.00811454
27ZFP281_18358816_ChIP-ChIP_MESCs_Mouse2.00515616
28PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human2.00472579
29P300_19829295_ChIP-Seq_ESCs_Human1.98620642
30GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.96078658
31IGF1R_20145208_ChIP-Seq_DFB_Human1.95858354
32EWS_26573619_Chip-Seq_HEK293_Human1.95339771
33EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.94705353
34* SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.90952851
35* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.86809084
36SMAD_19615063_ChIP-ChIP_OVARY_Human1.85794608
37JARID2_20064375_ChIP-Seq_MESCs_Mouse1.84141282
38TBX3_20139965_ChIP-Seq_ESCs_Mouse1.84093587
39AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.83320801
40TBX3_20139965_ChIP-Seq_MESCs_Mouse1.81333403
41* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.73775457
42* NANOG_18347094_ChIP-ChIP_MESCs_Mouse1.72148677
43SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.71899466
44ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.71226827
45RNF2_27304074_Chip-Seq_ESCs_Mouse1.69114166
46TBX20_22080862_ChIP-Seq_HEART_Mouse1.67039715
47TBX20_22328084_ChIP-Seq_HEART_Mouse1.67039715
48TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.66899511
49POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.66899511
50NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.66538022
51* SMAD4_21799915_ChIP-Seq_A2780_Human1.65169340
52NR3C1_21868756_ChIP-Seq_MCF10A_Human1.61318256
53* SOX2_18555785_ChIP-Seq_MESCs_Mouse1.59536940
54* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.58384525
55SMAD3_21741376_ChIP-Seq_EPCs_Human1.57457898
56HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.57250446
57RNF2_27304074_Chip-Seq_NSC_Mouse1.56295512
58TOP2B_26459242_ChIP-Seq_MCF-7_Human1.55226451
59SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.55089122
60* POU5F1_16518401_ChIP-PET_MESCs_Mouse1.54815909
61MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.54531025
62* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.54415288
63REST_21632747_ChIP-Seq_MESCs_Mouse1.53716200
64ESR1_15608294_ChIP-ChIP_MCF-7_Human1.53709862
65SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.52102582
66HIF1A_21447827_ChIP-Seq_MCF-7_Human1.51434332
67RNF2_18974828_ChIP-Seq_MESCs_Mouse1.50098271
68EZH2_18974828_ChIP-Seq_MESCs_Mouse1.50098271
69NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.49552090
70RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.48366392
71AR_25329375_ChIP-Seq_VCAP_Human1.44556259
72* POU5F1_18347094_ChIP-ChIP_MESCs_Mouse1.43846973
73GATA2_21666600_ChIP-Seq_HMVEC_Human1.43303022
74CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.43006868
75JARID2_20075857_ChIP-Seq_MESCs_Mouse1.42843109
76ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.42397210
77SMAD3_21741376_ChIP-Seq_HESCs_Human1.42011605
78CLOCK_20551151_ChIP-Seq_293T_Human1.41146570
79TRIM28_17542650_ChIP-ChIP_NTERA2_Human1.39772696
80ZNF217_24962896_ChIP-Seq_MCF-7_Human1.39516799
81STAT3_23295773_ChIP-Seq_U87_Human1.38952965
82UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.38497923
83RARG_19884340_ChIP-ChIP_MEFs_Mouse1.37585210
84EZH2_27294783_Chip-Seq_ESCs_Mouse1.36764962
85* TCF3_18347094_ChIP-ChIP_MESCs_Mouse1.35964289
86GBX2_23144817_ChIP-Seq_PC3_Human1.35918260
87PRDM14_21183938_ChIP-Seq_MESCs_Mouse1.35644247
88ISL1_27105846_Chip-Seq_CPCs_Mouse1.35236615
89* ZFP281_18757296_ChIP-ChIP_E14_Mouse1.34747061
90TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.34742519
91MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.33869835
92TCF4_18268006_ChIP-ChIP_LS174T_Human1.33006559
93TP53_16413492_ChIP-PET_HCT116_Human1.32387032
94SUZ12_27294783_Chip-Seq_ESCs_Mouse1.30990527
95PCGF2_27294783_Chip-Seq_NPCs_Mouse1.30945751
96ESR1_20079471_ChIP-ChIP_T-47D_Human1.30713857
97CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.30563417
98* NANOG_18692474_ChIP-Seq_MESCs_Mouse1.30395970
99MTF2_20144788_ChIP-Seq_MESCs_Mouse1.30254887
100TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.29939079
101ER_23166858_ChIP-Seq_MCF-7_Human1.28873036
102* NANOG_18692474_ChIP-Seq_MEFs_Mouse1.28809537
103PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.28551015
104NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.28473663
105KLF4_25985364_ChIP-Seq_ATHEROSCLEROSIS_LESION_Mouse1.28191552
106ZFP281_27345836_Chip-Seq_ESCs_Mouse1.26681663
107STAT3_1855785_ChIP-Seq_MESCs_Mouse1.26515598
108PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.26071854
109EZH2_22144423_ChIP-Seq_EOC_Human1.26020007
110RUNX2_22187159_ChIP-Seq_PCA_Human1.25756616
111BCAT_22108803_ChIP-Seq_LS180_Human1.25463046
112ESR1_21235772_ChIP-Seq_MCF-7_Human1.25120459
113SALL4_18804426_ChIP-ChIP_XEN_Mouse1.25056742
114NANOG_18358816_ChIP-ChIP_MESCs_Mouse1.23305777
115TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.23181092
116TCF4_23295773_ChIP-Seq_U87_Human1.22962196
117TCF4_22108803_ChIP-Seq_LS180_Human1.22719628
118LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.21493790
119SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.20975454
120RCOR2_21632747_ChIP-Seq_MESCs_Mouse1.20631292
121WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.20408453
122NANOG_18555785_Chip-Seq_ESCs_Mouse1.20028522
123SOX2_21211035_ChIP-Seq_LN229_Gbm1.19683431
124ZNF263_19887448_ChIP-Seq_K562_Human1.19286705
125FLI1_27457419_Chip-Seq_LIVER_Mouse1.18987551
126IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.18979497
127CBP_20019798_ChIP-Seq_JUKART_Human1.18979497
128P53_22127205_ChIP-Seq_FIBROBLAST_Human1.17716171
129RING1B_27294783_Chip-Seq_ESCs_Mouse1.17465745
130STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.15884289
131EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.14304452
132ESR2_21235772_ChIP-Seq_MCF-7_Human1.13666394
133CEBPB_26923725_Chip-Seq_MESODERM_Mouse1.13623024
134AHR_22903824_ChIP-Seq_MCF-7_Human1.13349325
135HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.13173675
136BMI1_23680149_ChIP-Seq_NPCS_Mouse1.12995668
137DROSHA_22980978_ChIP-Seq_HELA_Human1.12353437
138SOX9_26525672_Chip-Seq_HEART_Mouse1.12297613
139KDM2B_26808549_Chip-Seq_REH_Human1.11353929
140AR_21572438_ChIP-Seq_LNCaP_Human1.11287882
141PCGF2_27294783_Chip-Seq_ESCs_Mouse1.10675846
142* TEAD4_22529382_ChIP-Seq_TROPHECTODERM_Mouse1.09674003
143* NANOG_16518401_ChIP-PET_MESCs_Mouse1.09518624
144* SOX2_18692474_ChIP-Seq_MEFs_Mouse1.09362263
145EZH2_27294783_Chip-Seq_NPCs_Mouse1.07916637
146CJUN_26792858_Chip-Seq_BT549_Human1.07572059
147FLI1_21867929_ChIP-Seq_TH2_Mouse1.06336989
148SMAD4_21741376_ChIP-Seq_HESCs_Human1.06101392
149SOX9_24532713_ChIP-Seq_HFSC_Mouse1.05351157
150P53_22387025_ChIP-Seq_ESCs_Mouse1.05185149
151* SOX2_18692474_ChIP-Seq_MESCs_Mouse1.04493671
152GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.04176054
153STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.04080522
154RBPJ_22232070_ChIP-Seq_NCS_Mouse1.02953263
155TP53_20018659_ChIP-ChIP_R1E_Mouse1.02418101
156POU5F1_16153702_ChIP-ChIP_HESCs_Human1.02221444
157MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.01608126
158SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.01551273
159EED_16625203_ChIP-ChIP_MESCs_Mouse1.01505451
160CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.01066383
161RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.00879104
162WT1_25993318_ChIP-Seq_PODOCYTE_Human1.00840197
163YAP1_20516196_ChIP-Seq_MESCs_Mouse0.99657522
164SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.98705833
165DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.98100369
166RING1B_27294783_Chip-Seq_NPCs_Mouse0.96666166
167* KDM5B_21448134_ChIP-Seq_MESCs_Mouse0.95895410
168* POU5F1_18358816_ChIP-ChIP_MESCs_Mouse0.95365754
169PIAS1_25552417_ChIP-Seq_VCAP_Human0.95164399
170CDX2_19796622_ChIP-Seq_MESCs_Mouse0.93985631
171CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.92492832
172CTNNB1_20460455_ChIP-Seq_HCT116_Human0.92074769
173* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.91863752
174EZH2_27304074_Chip-Seq_ESCs_Mouse0.90993321
175PPAR_26484153_Chip-Seq_NCI-H1993_Human0.90259124

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004084_abnormal_cardiac_muscle3.65050446
2MP0004215_abnormal_myocardial_fiber3.37343891
3MP0000751_myopathy3.04586089
4MP0005623_abnormal_meninges_morphology2.79779301
5MP0010368_abnormal_lymphatic_system2.76904627
6MP0004272_abnormal_basement_membrane2.75461990
7MP0005167_abnormal_blood-brain_barrier2.71208151
8MP0003880_abnormal_central_pattern2.69962048
9MP0003828_pulmonary_edema2.67888489
10MP0005503_abnormal_tendon_morphology2.56762603
11MP0008775_abnormal_heart_ventricle2.52508340
12MP0000778_abnormal_nervous_system2.45036694
13MP0005330_cardiomyopathy2.42451061
14MP0003950_abnormal_plasma_membrane2.41527976
15MP0002837_dystrophic_cardiac_calcinosis2.32854391
16MP0001879_abnormal_lymphatic_vessel2.28804806
17MP0002638_abnormal_pupillary_reflex2.24597757
18MP0001486_abnormal_startle_reflex2.19129364
19MP0002127_abnormal_cardiovascular_syste2.19098871
20MP0004036_abnormal_muscle_relaxation2.14917123
21MP0003137_abnormal_impulse_conducting2.14125455
22MP0002736_abnormal_nociception_after2.13434785
23MP0006138_congestive_heart_failure2.11046557
24MP0003646_muscle_fatigue2.08706099
25MP0000749_muscle_degeneration2.08160065
26MP0004484_altered_response_of2.04613505
27MP0002108_abnormal_muscle_morphology2.00079844
28MP0002972_abnormal_cardiac_muscle1.98938280
29MP0003941_abnormal_skin_development1.98856277
30MP0009745_abnormal_behavioral_response1.93157755
31MP0001968_abnormal_touch/_nociception1.93063058
32MP0004130_abnormal_muscle_cell1.92168330
33MP0010630_abnormal_cardiac_muscle1.90395272
34MP0001544_abnormal_cardiovascular_syste1.89389478
35MP0005385_cardiovascular_system_phenoty1.89389478
36MP0000750_abnormal_muscle_regeneration1.88379071
37MP0002735_abnormal_chemical_nociception1.87697032
38MP0004087_abnormal_muscle_fiber1.84770783
39MP0006292_abnormal_olfactory_placode1.84040382
40MP0004885_abnormal_endolymph1.82460347
41MP0005620_abnormal_muscle_contractility1.81148877
42MP0003635_abnormal_synaptic_transmissio1.76620079
43MP0002653_abnormal_ependyma_morphology1.74994947
44MP0002102_abnormal_ear_morphology1.73077191
45MP0002234_abnormal_pharynx_morphology1.72822321
46MP0002938_white_spotting1.71474436
47MP0002282_abnormal_trachea_morphology1.69670525
48MP0001485_abnormal_pinna_reflex1.69219743
49MP0000049_abnormal_middle_ear1.68404495
50MP0004085_abnormal_heartbeat1.67073896
51MP0002272_abnormal_nervous_system1.65915558
52MP0003567_abnormal_fetal_cardiomyocyte1.65291258
53MP0002249_abnormal_larynx_morphology1.63342642
54MP0005670_abnormal_white_adipose1.62370577
55MP0005646_abnormal_pituitary_gland1.62248789
56MP0003279_aneurysm1.61772114
57MP0002064_seizures1.61305505
58MP0004859_abnormal_synaptic_plasticity1.60747270
59MP0004145_abnormal_muscle_electrophysio1.60546222
60MP0000026_abnormal_inner_ear1.55291153
61MP0002269_muscular_atrophy1.53538676
62MP0005369_muscle_phenotype1.51023175
63MP0002063_abnormal_learning/memory/cond1.49174422
64MP0001984_abnormal_olfaction1.48776953
65MP0002734_abnormal_mechanical_nocicepti1.47361048
66MP0002572_abnormal_emotion/affect_behav1.46473633
67MP0005423_abnormal_somatic_nervous1.45710089
68MP0002106_abnormal_muscle_physiology1.45114069
69MP0004233_abnormal_muscle_weight1.43738825
70MP0000631_abnormal_neuroendocrine_gland1.42868157
71MP0004142_abnormal_muscle_tone1.42120303
72MP0003566_abnormal_cell_adhesion1.41909416
73MP0006276_abnormal_autonomic_nervous1.39909299
74MP0000767_abnormal_smooth_muscle1.39477389
75MP0005187_abnormal_penis_morphology1.38823866
76MP0005551_abnormal_eye_electrophysiolog1.38318534
77MP0000569_abnormal_digit_pigmentation1.38265891
78MP0002332_abnormal_exercise_endurance1.37773438
79MP0003705_abnormal_hypodermis_morpholog1.37383424
80MP0005248_abnormal_Harderian_gland1.35867856
81MP0003122_maternal_imprinting1.33461567
82MP0000566_synostosis1.33022090
83MP0002254_reproductive_system_inflammat1.32425880
84MP0006072_abnormal_retinal_apoptosis1.30847370
85MP0004147_increased_porphyrin_level1.30216550
86MP0001970_abnormal_pain_threshold1.29774638
87MP0002067_abnormal_sensory_capabilities1.29170342
88MP0003283_abnormal_digestive_organ1.28538424
89MP0002557_abnormal_social/conspecific_i1.27333463
90MP0002925_abnormal_cardiovascular_devel1.26290545
91MP0008789_abnormal_olfactory_epithelium1.25810671
92MP0004133_heterotaxia1.24931555
93MP0009384_cardiac_valve_regurgitation1.23773814
94MP0004742_abnormal_vestibular_system1.23124819
95MP0002751_abnormal_autonomic_nervous1.21097105
96MP0003942_abnormal_urinary_system1.19546734
97MP0008877_abnormal_DNA_methylation1.19162138
98MP0000955_abnormal_spinal_cord1.19148860
99MP0000266_abnormal_heart_morphology1.18668335
100MP0003045_fibrosis1.17764202
101MP0002733_abnormal_thermal_nociception1.17392394
102MP0003937_abnormal_limbs/digits/tail_de1.17038886
103MP0003121_genomic_imprinting1.16028754
104MP0001502_abnormal_circadian_rhythm1.15978357
105MP0001963_abnormal_hearing_physiology1.15665635
106MP0003787_abnormal_imprinting1.14468302
107MP0003136_yellow_coat_color1.14372585
108MP0000579_abnormal_nail_morphology1.13810895
109MP0004270_analgesia1.13273763
110MP0001529_abnormal_vocalization1.12369143
111MP0000733_abnormal_muscle_development1.11900780
112MP0003938_abnormal_ear_development1.11309745
113MP0003011_delayed_dark_adaptation1.10218069
114MP0005253_abnormal_eye_physiology1.08803676
115MP0010030_abnormal_orbit_morphology1.08112840
116MP0005595_abnormal_vascular_smooth1.07514080
117MP0000759_abnormal_skeletal_muscle1.05927903
118MP0002128_abnormal_blood_circulation1.05758966
119MP0009046_muscle_twitch1.05413635
120MP0004858_abnormal_nervous_system1.04920863
121MP0005666_abnormal_adipose_tissue1.04408524
122MP0003755_abnormal_palate_morphology1.03920914
123MP0001177_atelectasis1.03909946
124MP0000747_muscle_weakness1.03403596
125MP0005165_increased_susceptibility_to1.03341737
126MP0002882_abnormal_neuron_morphology1.02917026
127MP0002152_abnormal_brain_morphology1.01778776
128MP0002752_abnormal_somatic_nervous1.00382948
129MP0005391_vision/eye_phenotype1.00011317
130MP0001958_emphysema0.97672513
131MP0004883_abnormal_blood_vessel0.96371343
132MP0005367_renal/urinary_system_phenotyp0.94881573
133MP0000516_abnormal_urinary_system0.94881573
134MP0000534_abnormal_ureter_morphology0.93033853
135MP0000343_altered_response_to0.92793914
136MP0003861_abnormal_nervous_system0.92584983
137MP0002233_abnormal_nose_morphology0.92398780
138MP0003091_abnormal_cell_migration0.92327470
139MP0001501_abnormal_sleep_pattern0.91877583
140MP0001614_abnormal_blood_vessel0.90863512
141MP0002086_abnormal_extraembryonic_tissu0.89559385
142MP0003984_embryonic_growth_retardation0.89289868
143MP0005394_taste/olfaction_phenotype0.89085502
144MP0005499_abnormal_olfactory_system0.89085502
145MP0004924_abnormal_behavior0.88212950
146MP0005386_behavior/neurological_phenoty0.88212950
147MP0002184_abnormal_innervation0.87969761
148MP0005171_absent_coat_pigmentation0.87439819
149MP0002088_abnormal_embryonic_growth/wei0.87181285
150MP0001915_intracranial_hemorrhage0.86904317
151MP0001661_extended_life_span0.86242574
152MP0003935_abnormal_craniofacial_develop0.85942323
153MP0003119_abnormal_digestive_system0.85243829
154MP0005508_abnormal_skeleton_morphology0.84602994
155MP0001986_abnormal_taste_sensitivity0.84430902
156MP0001299_abnormal_eye_distance/0.83533875
157MP0002116_abnormal_craniofacial_bone0.83189726
158MP0002084_abnormal_developmental_patter0.82299816
159MP0001784_abnormal_fluid_regulation0.81283943
160MP0001293_anophthalmia0.80791018
161MP0002090_abnormal_vision0.80375621
162MP0008569_lethality_at_weaning0.78576211
163MP0009250_abnormal_appendicular_skeleto0.78243763
164MP0002295_abnormal_pulmonary_circulatio0.77755524
165MP0005380_embryogenesis_phenotype0.77251211
166MP0001672_abnormal_embryogenesis/_devel0.77251211
167MP0009780_abnormal_chondrocyte_physiolo0.77138850
168MP0005195_abnormal_posterior_eye0.75716207
169MP0003385_abnormal_body_wall0.70156901
170MP0002085_abnormal_embryonic_tissue0.69466702
171MP0000428_abnormal_craniofacial_morphol0.66558221
172MP0005388_respiratory_system_phenotype0.64800934
173MP0002133_abnormal_respiratory_system0.64800934
174MP0004185_abnormal_adipocyte_glucose0.64607027
175MP0008438_abnormal_cutaneous_collagen0.62875200

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)4.40056382
2Sudden death (HP:0001699)4.38785049
3True hermaphroditism (HP:0010459)4.25409817
4Atrial fibrillation (HP:0005110)4.23289198
5Primary atrial arrhythmia (HP:0001692)3.94124190
6Ventricular tachycardia (HP:0004756)3.87370545
7Supraventricular arrhythmia (HP:0005115)3.77932822
8Supraventricular tachycardia (HP:0004755)3.73447212
9Hypoplastic left heart (HP:0004383)3.66004082
10Pancreatic fibrosis (HP:0100732)3.52299621
11Hyporeflexia of lower limbs (HP:0002600)3.41435131
12Adactyly (HP:0009776)3.38513282
13Hyperventilation (HP:0002883)3.33396747
14Scotoma (HP:0000575)3.32322543
15Muscle fiber splitting (HP:0003555)3.31033945
16Septo-optic dysplasia (HP:0100842)3.27520213
17Atonic seizures (HP:0010819)3.27009960
18Aplasia of the musculature (HP:0100854)3.24507204
19Pancreatic cysts (HP:0001737)3.20030406
20Hemiparesis (HP:0001269)3.19913252
21Nephronophthisis (HP:0000090)3.19783192
22Exercise-induced muscle cramps (HP:0003710)3.19125134
23Right ventricular cardiomyopathy (HP:0011663)3.11177632
24Abnormality of the calf musculature (HP:0001430)2.98640846
25Aplasia/Hypoplasia of the pubic bone (HP:0009104)2.97462096
26Hypoplastic ischia (HP:0003175)2.94556141
27Hypoplastic heart (HP:0001961)2.93769950
28Cortical dysplasia (HP:0002539)2.88282039
29Difficulty running (HP:0009046)2.83224729
30Calf muscle hypertrophy (HP:0008981)2.81730113
31Abnormality of midbrain morphology (HP:0002418)2.77875747
32Molar tooth sign on MRI (HP:0002419)2.77875747
33Abnormality of the renal medulla (HP:0100957)2.76493292
34Lipoatrophy (HP:0100578)2.73727248
35Central scotoma (HP:0000603)2.73400723
36Increased connective tissue (HP:0009025)2.71352483
37Chorioretinal atrophy (HP:0000533)2.71210754
38Febrile seizures (HP:0002373)2.70019140
39Prolonged QT interval (HP:0001657)2.69691419
40Focal seizures (HP:0007359)2.68248826
41Abnormality of the ischium (HP:0003174)2.66686820
42Absent hand (HP:0004050)2.66068912
43Partial duplication of thumb phalanx (HP:0009944)2.64299902
44Optic nerve hypoplasia (HP:0000609)2.53700240
45Syncope (HP:0001279)2.52902159
46Dynein arm defect of respiratory motile cilia (HP:0012255)2.52113997
47Absent/shortened dynein arms (HP:0200106)2.52113997
48Atrioventricular block (HP:0001678)2.50919433
49Exercise-induced myalgia (HP:0003738)2.49515445
50Rib fusion (HP:0000902)2.46355553
51Anophthalmia (HP:0000528)2.45258886
52Medial flaring of the eyebrow (HP:0010747)2.43610407
53Facial diplegia (HP:0001349)2.43242118
54Distal lower limb muscle weakness (HP:0009053)2.41089662
55Aplasia/Hypoplasia of the sternum (HP:0006714)2.40344283
56Muscle hypertrophy of the lower extremities (HP:0008968)2.40125349
57Gastrointestinal atresia (HP:0002589)2.38920568
58Oligodactyly (hands) (HP:0001180)2.37392832
59Maternal diabetes (HP:0009800)2.36787007
60Cystic liver disease (HP:0006706)2.36580256
61Short 4th metacarpal (HP:0010044)2.35826201
62Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.35826201
63Polycythemia (HP:0001901)2.35772950
64Congenital stationary night blindness (HP:0007642)2.34786055
65Broad metatarsal (HP:0001783)2.34647446
66Heart block (HP:0012722)2.33957232
67Postaxial foot polydactyly (HP:0001830)2.31801821
68Astrocytoma (HP:0009592)2.30915283
69Abnormality of the astrocytes (HP:0100707)2.30915283
70Aplasia/Hypoplasia of the tongue (HP:0010295)2.30165898
71Ependymoma (HP:0002888)2.28842505
72Abnormal respiratory epithelium morphology (HP:0012253)2.28140586
73Abnormal respiratory motile cilium morphology (HP:0005938)2.28140586
74Neoplasm of the oral cavity (HP:0100649)2.27415133
75EMG: myopathic abnormalities (HP:0003458)2.25812590
76Abnormal atrioventricular conduction (HP:0005150)2.25717795
77Dilated cardiomyopathy (HP:0001644)2.25408967
78Tubulointerstitial nephritis (HP:0001970)2.24924663
79Pigmentary retinal degeneration (HP:0001146)2.24118440
80Skull defect (HP:0001362)2.24109915
81Complete atrioventricular canal defect (HP:0001674)2.23957459
82Megalencephaly (HP:0001355)2.23889731
83Postaxial hand polydactyly (HP:0001162)2.23355562
84Supernumerary spleens (HP:0009799)2.23311242
85Absence seizures (HP:0002121)2.21486164
86Partial duplication of the phalanx of hand (HP:0009999)2.21426158
87Ventricular arrhythmia (HP:0004308)2.20000630
88Gait imbalance (HP:0002141)2.19543577
89Intestinal atresia (HP:0011100)2.19433988
90Myoglobinuria (HP:0002913)2.18404622
91Oligodactyly (HP:0012165)2.17133318
92Dialeptic seizures (HP:0011146)2.16600818
93Renal hypoplasia (HP:0000089)2.15457218
94Bundle branch block (HP:0011710)2.15239716
95Cerebral aneurysm (HP:0004944)2.13959885
96Sclerocornea (HP:0000647)2.13742971
97Anencephaly (HP:0002323)2.13382242
98Genital tract atresia (HP:0001827)2.13320727
99Absent toe (HP:0010760)2.12361887
100Aplasia/Hypoplasia of the optic nerve (HP:0008058)2.10911241
101Abnormality of the pulmonary veins (HP:0011718)2.10680357
102Myotonia (HP:0002486)2.10093165
103Aneurysm (HP:0002617)2.09647015
104Vaginal atresia (HP:0000148)2.08338628
105Muscular dystrophy (HP:0003560)2.08252535
106Progressive cerebellar ataxia (HP:0002073)2.07385363
107Pulmonary artery stenosis (HP:0004415)2.07159661
108Large for gestational age (HP:0001520)2.06800085
109Action tremor (HP:0002345)2.05862641
110Anomalous pulmonary venous return (HP:0010772)2.05372134
111Chronic hepatic failure (HP:0100626)2.05063947
112Aplasia/Hypoplasia involving the musculature (HP:0001460)2.04907715
113Cutaneous finger syndactyly (HP:0010554)2.04304085
114Absent septum pellucidum (HP:0001331)2.00457598
115Congenital primary aphakia (HP:0007707)1.99841251
116Depressed nasal tip (HP:0000437)1.99576062
117Glioma (HP:0009733)1.99475802
118Hematochezia (HP:0002573)1.99262719
119Aortic aneurysm (HP:0004942)1.98677088
120Increased corneal curvature (HP:0100692)1.96579216
121Keratoconus (HP:0000563)1.96579216
122Congenital hepatic fibrosis (HP:0002612)1.96229762
123Generalized tonic-clonic seizures (HP:0002069)1.95752050
124Abnormal drinking behavior (HP:0030082)1.95282919
125Polydipsia (HP:0001959)1.95282919
126Mesangial abnormality (HP:0001966)1.95022673
127Tubular atrophy (HP:0000092)1.94709938
128Abnormal ciliary motility (HP:0012262)1.94318911
129Type II lissencephaly (HP:0007260)1.94207585
130Atrioventricular canal defect (HP:0006695)1.92532224
131Hepatoblastoma (HP:0002884)1.92295436
132Vascular tortuosity (HP:0004948)1.92058674
133Abnormality of the labia minora (HP:0012880)1.91989463
134Abnormality of the renal cortex (HP:0011035)1.91941079
135Dyschromatopsia (HP:0007641)1.91271867
136Narrow forehead (HP:0000341)1.89972762
137Abnormality of the salivary glands (HP:0010286)1.89134090
138Midline defect of the nose (HP:0004122)1.88859784
139Abnormality of the 4th metacarpal (HP:0010012)1.88534052
140Abnormality of the diencephalon (HP:0010662)1.86570958
141Portal hypertension (HP:0001409)1.85697306
142Abnormal biliary tract physiology (HP:0012439)1.83747341
143Bile duct proliferation (HP:0001408)1.83747341
144Left ventricular hypertrophy (HP:0001712)1.82151207
145Vitreoretinal degeneration (HP:0000655)1.80866499
146Difficulty climbing stairs (HP:0003551)1.80523977
147Aqueductal stenosis (HP:0002410)1.80086623
148Absent speech (HP:0001344)1.80029166
149Renal dysplasia (HP:0000110)1.79379030
150Abnormality of the hepatic vasculature (HP:0006707)1.78692362
151Shallow orbits (HP:0000586)1.78282807
152Esophageal varix (HP:0002040)1.78107630
153Aplasia cutis congenita (HP:0001057)1.77193089
154Aplasia involving bones of the extremities (HP:0009825)1.76629076
155Aplasia involving bones of the upper limbs (HP:0009823)1.76629076
156Aplasia of the phalanges of the hand (HP:0009802)1.76629076
157Fibular hypoplasia (HP:0003038)1.76139657
158Abnormal EKG (HP:0003115)1.75792608
159Morphological abnormality of the middle ear (HP:0008609)1.75723655
160Spinal rigidity (HP:0003306)1.75064284
161Short hallux (HP:0010109)1.74812948
162Tubulointerstitial abnormality (HP:0001969)1.74408383
163Occipital encephalocele (HP:0002085)1.74223414
164Colon cancer (HP:0003003)1.74134271
165Aplasia/Hypoplasia of the hallux (HP:0008362)1.74005806
166Short humerus (HP:0005792)1.73947187
167Nephrogenic diabetes insipidus (HP:0009806)1.73898796
168Lymphangioma (HP:0100764)1.73151430
169Diaphragmatic weakness (HP:0009113)1.72600820
170Coronal craniosynostosis (HP:0004440)1.71790346
171Abnormality of the pubic bones (HP:0003172)1.71634050
172Hyperglycinuria (HP:0003108)1.70398554
173Male pseudohermaphroditism (HP:0000037)1.69759336
174Holoprosencephaly (HP:0001360)1.68755769
175Cutaneous syndactyly (HP:0012725)1.68740719
176Drooling (HP:0002307)1.67928750
177Preaxial foot polydactyly (HP:0001841)1.66584253
178Morphological abnormality of the inner ear (HP:0011390)1.66206109
179Hyperinsulinemic hypoglycemia (HP:0000825)1.65601214
180Hypoalphalipoproteinemia (HP:0003233)1.65157162
181Abnormality of the left ventricular outflow tract (HP:0011103)1.65004797
182Subaortic stenosis (HP:0001682)1.65004797
183Preaxial hand polydactyly (HP:0001177)1.64835141
184Esophageal atresia (HP:0002032)1.64764585
185Ankle contracture (HP:0006466)1.64534451
186Aplasia/Hypoplasia of the vertebrae (HP:0008515)1.64510052
187Vertebral hypoplasia (HP:0008417)1.64510052
188Hemiplegia (HP:0002301)1.64237410

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TIE16.70241293
2AKT33.25504455
3LMTK23.25050492
4TNIK3.01117398
5MARK12.93884099
6CASK2.87672395
7WEE12.66982611
8STK392.61634403
9PHKG22.57980772
10PHKG12.57980772
11FRK2.53993180
12TTN2.43726288
13PDK22.41455041
14WNK32.40415585
15CDK122.29453095
16RIPK12.28496084
17WNK42.28218818
18BMPR1B2.19033651
19MAPK132.13179106
20MAPK152.11839610
21TGFBR22.03258083
22PDK31.98023808
23PDK41.98023808
24DMPK1.97752885
25NEK11.77946481
26FER1.77366777
27LATS11.75803358
28KDR1.71820698
29OBSCN1.70313112
30BCKDK1.69901344
31NUAK11.68690473
32MAP4K21.68123007
33EPHA21.63309531
34MKNK21.59999227
35TGFBR11.58185712
36TYRO31.57212319
37PKN11.49301683
38MAP3K41.48187089
39NTRK31.48101814
40PINK11.45436303
41CAMK1D1.43618723
42GRK11.33874338
43CCNB11.33359494
44PIK3CA1.31545302
45PDGFRA1.31403586
46VRK11.30955775
47CAMK1G1.25886508
48MYLK1.25847390
49PRKCG1.25116916
50LATS21.22611396
51PLK21.19878810
52DYRK21.18434658
53EPHB21.11661804
54ICK1.11364143
55ADRBK21.11347707
56PRKD31.09502018
57PAK31.07624857
58STK38L1.05121664
59MKNK11.04582113
60PLK31.01797603
61BRD41.01770774
62MAPK121.00343160
63BRSK20.99115638
64PNCK0.97760809
65PKN20.97463031
66MAPK70.93348394
67PRKD10.92736264
68STK380.92734909
69ZAK0.92346365
70TRIB30.90255654
71SIK10.88064907
72PRKAA10.85147709
73PLK40.83874666
74DDR20.82908219
75EIF2AK30.80469531
76INSRR0.79531840
77UHMK10.79504018
78PAK40.79411409
79VRK20.78620421
80ROCK10.76798461
81SGK20.76443561
82MAP2K70.76423050
83CSNK1G20.75891903
84MTOR0.73724187
85DAPK20.73718154
86CAMK40.73143262
87PAK60.70079768
88NTRK10.69841801
89NTRK20.69484213
90MINK10.68975416
91AKT20.68234157
92WNK10.68152540
93MAPKAPK30.68008344
94ACVR1B0.67419770
95CDK60.67289336
96OXSR10.67067790
97MUSK0.66835798
98CDC42BPA0.66428307
99CDK30.66280231
100SGK30.66006985
101PTK60.65738049
102IRAK10.62315938
103PRKAA20.60290582
104CDC70.60046816
105CSNK1G10.59682353
106CAMK2A0.56397871
107BMX0.55042981
108ERBB30.54433822
109FGFR10.54201772
110DYRK1A0.53806386
111MAPKAPK50.53079739
112NEK90.52956510
113GSK3A0.52808795
114STK240.51980194
115CAMK2B0.51872671
116FGFR30.49084115
117FGFR20.47733647
118MAP3K50.47547146
119ERBB40.46584638
120PTK2B0.45749917
121SGK2230.45474164
122SGK4940.45474164
123ERBB20.45311836
124CSNK1G30.45180920
125EPHA30.45079233
126MET0.44836366
127BRSK10.44766426
128NEK60.43988899
129ROCK20.41282171
130MAP3K70.41217991
131STK110.40659053
132CSNK1A1L0.39822804
133PDGFRB0.39628423
134CDK50.39446584
135CDK80.39325835
136RET0.39157875
137PRKG10.38792023
138NLK0.38133976
139PRKACA0.38059359
140EPHA40.37388255
141CAMK2G0.36912242
142PRPF4B0.36842636
143MAPK100.36834339
144CDK70.36647562
145PLK10.36508256
146YES10.36360279
147PRKCE0.35243619
148PAK20.34843607
149DYRK1B0.34059392
150CAMK2D0.34028394
151PRKCH0.33994071
152TSSK60.33932750
153BCR0.33672976
154PRKCZ0.33541267
155PRKACB0.33517348
156CSNK1D0.33139446
157PRKG20.32469501
158RPS6KA30.31385179
159CAMK10.31036282
160CDK90.30593484
161PRKACG0.29320634
162ADRBK10.29166405

Predicted pathways (KEGG)

RankGene SetZ-score
1Nitrogen metabolism_Homo sapiens_hsa009103.87572502
2Dilated cardiomyopathy_Homo sapiens_hsa054143.21539264
3Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054103.02985299
4Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054123.02085344
5Synthesis and degradation of ketone bodies_Homo sapiens_hsa000722.82614325
62-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.67599983
7Nicotine addiction_Homo sapiens_hsa050332.59528263
8Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.52830978
9Phototransduction_Homo sapiens_hsa047442.18503716
10Adherens junction_Homo sapiens_hsa045202.12216378
11Butanoate metabolism_Homo sapiens_hsa006502.06613520
12Fatty acid biosynthesis_Homo sapiens_hsa000611.95173052
13Cardiac muscle contraction_Homo sapiens_hsa042601.94252396
14Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.92731829
15Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.80474972
16Basal cell carcinoma_Homo sapiens_hsa052171.76136007
17Fatty acid metabolism_Homo sapiens_hsa012121.72912933
18Fanconi anemia pathway_Homo sapiens_hsa034601.70867176
19ECM-receptor interaction_Homo sapiens_hsa045121.65949521
20Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.62420323
21Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045501.59749041
22Focal adhesion_Homo sapiens_hsa045101.59009792
23Fatty acid degradation_Homo sapiens_hsa000711.58044707
24Viral myocarditis_Homo sapiens_hsa054161.57843784
25Thyroid hormone signaling pathway_Homo sapiens_hsa049191.55971449
26Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.52750266
27Hippo signaling pathway_Homo sapiens_hsa043901.48895579
28Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.42882605
29Propanoate metabolism_Homo sapiens_hsa006401.41181331
30Linoleic acid metabolism_Homo sapiens_hsa005911.37271381
31Notch signaling pathway_Homo sapiens_hsa043301.36450534
32alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.33638727
33Cocaine addiction_Homo sapiens_hsa050301.33453093
34Dopaminergic synapse_Homo sapiens_hsa047281.32127753
35TGF-beta signaling pathway_Homo sapiens_hsa043501.31791657
36Dorso-ventral axis formation_Homo sapiens_hsa043201.31269407
37Amphetamine addiction_Homo sapiens_hsa050311.24485776
38Taste transduction_Homo sapiens_hsa047421.22856724
39Proteoglycans in cancer_Homo sapiens_hsa052051.21396950
40Terpenoid backbone biosynthesis_Homo sapiens_hsa009001.20945874
41Olfactory transduction_Homo sapiens_hsa047401.19829158
42Steroid biosynthesis_Homo sapiens_hsa001001.18961605
43cGMP-PKG signaling pathway_Homo sapiens_hsa040221.18648391
44Hedgehog signaling pathway_Homo sapiens_hsa043401.16777020
45* Tight junction_Homo sapiens_hsa045301.16737053
46beta-Alanine metabolism_Homo sapiens_hsa004101.12566937
47HIF-1 signaling pathway_Homo sapiens_hsa040661.11324226
48Serotonergic synapse_Homo sapiens_hsa047261.06245451
49Tryptophan metabolism_Homo sapiens_hsa003801.06057515
50Protein export_Homo sapiens_hsa030601.04456995
51Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.02613683
52Insulin resistance_Homo sapiens_hsa049311.02417556
53Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.01644553
54Wnt signaling pathway_Homo sapiens_hsa043101.01417223
55Rap1 signaling pathway_Homo sapiens_hsa040151.00806683
56cAMP signaling pathway_Homo sapiens_hsa040240.99997618
57Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.99844773
58Carbon metabolism_Homo sapiens_hsa012000.99072098
59Longevity regulating pathway - mammal_Homo sapiens_hsa042110.98827016
60Circadian rhythm_Homo sapiens_hsa047100.97761444
61Lysine degradation_Homo sapiens_hsa003100.97301781
62Homologous recombination_Homo sapiens_hsa034400.96811876
63Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.96572754
64Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.96466729
65Vascular smooth muscle contraction_Homo sapiens_hsa042700.96427566
66Melanogenesis_Homo sapiens_hsa049160.96283662
67Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.95709307
68Primary bile acid biosynthesis_Homo sapiens_hsa001200.95428077
69AMPK signaling pathway_Homo sapiens_hsa041520.95178287
70GABAergic synapse_Homo sapiens_hsa047270.92992727
71Adipocytokine signaling pathway_Homo sapiens_hsa049200.92904837
72Glycerolipid metabolism_Homo sapiens_hsa005610.92378381
73Glucagon signaling pathway_Homo sapiens_hsa049220.92012508
74Renin secretion_Homo sapiens_hsa049240.91923159
75Ether lipid metabolism_Homo sapiens_hsa005650.91315730
76Oxytocin signaling pathway_Homo sapiens_hsa049210.91280050
77Axon guidance_Homo sapiens_hsa043600.90538481
78PPAR signaling pathway_Homo sapiens_hsa033200.90334166
79Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.89558800
80Arginine biosynthesis_Homo sapiens_hsa002200.89299627
81Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.89134697
82PI3K-Akt signaling pathway_Homo sapiens_hsa041510.87690091
83Small cell lung cancer_Homo sapiens_hsa052220.87654650
84MicroRNAs in cancer_Homo sapiens_hsa052060.87521917
85Insulin secretion_Homo sapiens_hsa049110.86694004
86Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.85445178
87Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.85352627
88Pathways in cancer_Homo sapiens_hsa052000.84664201
89mTOR signaling pathway_Homo sapiens_hsa041500.82404990
90Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.81952711
91Regulation of actin cytoskeleton_Homo sapiens_hsa048100.81481806
92Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.81451739
93Bile secretion_Homo sapiens_hsa049760.78148175
94Gastric acid secretion_Homo sapiens_hsa049710.77677456
95Circadian entrainment_Homo sapiens_hsa047130.76531876
96Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.76384451
97Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.75210286
98Histidine metabolism_Homo sapiens_hsa003400.74842624
99Gap junction_Homo sapiens_hsa045400.73223205
100Melanoma_Homo sapiens_hsa052180.73179788
101Thyroid hormone synthesis_Homo sapiens_hsa049180.73086799
102Biosynthesis of amino acids_Homo sapiens_hsa012300.73000284
103Aldosterone synthesis and secretion_Homo sapiens_hsa049250.72438209
104Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.71848370
105Insulin signaling pathway_Homo sapiens_hsa049100.70744515
106Estrogen signaling pathway_Homo sapiens_hsa049150.70213284
107Calcium signaling pathway_Homo sapiens_hsa040200.69741013
108* Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.69635760
109Renal cell carcinoma_Homo sapiens_hsa052110.69545466
110Caffeine metabolism_Homo sapiens_hsa002320.67894281
111Salivary secretion_Homo sapiens_hsa049700.66997326
112Ovarian steroidogenesis_Homo sapiens_hsa049130.66089351
113Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.65351249
114Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.64705192
115AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.64156721
116Amoebiasis_Homo sapiens_hsa051460.62793351
117Glutamatergic synapse_Homo sapiens_hsa047240.62582053
118Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.62203384
119Retinol metabolism_Homo sapiens_hsa008300.61335197
120Central carbon metabolism in cancer_Homo sapiens_hsa052300.60234580
121Phospholipase D signaling pathway_Homo sapiens_hsa040720.59349773
122Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.59145022
123Morphine addiction_Homo sapiens_hsa050320.58814329
124Basal transcription factors_Homo sapiens_hsa030220.58813218
125Long-term depression_Homo sapiens_hsa047300.57984602
126Colorectal cancer_Homo sapiens_hsa052100.57576215
127Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.57511873
128ABC transporters_Homo sapiens_hsa020100.56413994
129Cholinergic synapse_Homo sapiens_hsa047250.56384619
130Ras signaling pathway_Homo sapiens_hsa040140.54370932
131Steroid hormone biosynthesis_Homo sapiens_hsa001400.53228492
132Protein digestion and absorption_Homo sapiens_hsa049740.53100149
133Arginine and proline metabolism_Homo sapiens_hsa003300.52513503
134Endometrial cancer_Homo sapiens_hsa052130.51555847
135Peroxisome_Homo sapiens_hsa041460.51394967
136Chemical carcinogenesis_Homo sapiens_hsa052040.50627221
137Carbohydrate digestion and absorption_Homo sapiens_hsa049730.48472730
138* Leukocyte transendothelial migration_Homo sapiens_hsa046700.47703921
139Maturity onset diabetes of the young_Homo sapiens_hsa049500.47118846
140Oocyte meiosis_Homo sapiens_hsa041140.47020823
141Pancreatic secretion_Homo sapiens_hsa049720.46675389
142Prostate cancer_Homo sapiens_hsa052150.41771677
143FoxO signaling pathway_Homo sapiens_hsa040680.40301051
144Choline metabolism in cancer_Homo sapiens_hsa052310.39228751
145MAPK signaling pathway_Homo sapiens_hsa040100.38714409
146Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.37616396
147Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.37317892
148Glioma_Homo sapiens_hsa052140.34414361

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