KCNK2

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 one of the members of the two-pore-domain background potassium channel protein family. This type of potassium channel is formed by two homodimers that create a channel that leaks potassium out of the cell to control resting membrane potential. The channel can be opened, however, by certain anesthetics, membrane stretching, intracellular acidosis, and heat. Three transcript variants encoding different isoforms have been found for this gene. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1sequestering of extracellular ligand from receptor (GO:0035581)6.88738528
2protein heterotrimerization (GO:0070208)6.79085247
3collagen fibril organization (GO:0030199)6.57187034
4vocalization behavior (GO:0071625)5.56205053
5bone trabecula formation (GO:0060346)5.45353948
6positive regulation of excitatory postsynaptic membrane potential (GO:2000463)5.27349361
7regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor act5.25385765
8type B pancreatic cell proliferation (GO:0044342)5.08819900
9extracellular matrix assembly (GO:0085029)5.02885944
10locomotory exploration behavior (GO:0035641)5.02495094
11skin morphogenesis (GO:0043589)4.98224131
12regulation of short-term neuronal synaptic plasticity (GO:0048172)4.89616238
13regulation of glutamate receptor signaling pathway (GO:1900449)4.76810703
14neurotransmitter-gated ion channel clustering (GO:0072578)4.75062760
15neuron cell-cell adhesion (GO:0007158)4.69368311
16adhesion of symbiont to host cell (GO:0044650)4.69173739
17virion attachment to host cell (GO:0019062)4.69173739
18synaptic vesicle maturation (GO:0016188)4.67798570
19chondrocyte proliferation (GO:0035988)4.61818473
20protein localization to synapse (GO:0035418)4.61725475
21kidney mesenchyme development (GO:0072074)4.59352825
22endodermal cell differentiation (GO:0035987)4.54323012
23synaptic vesicle exocytosis (GO:0016079)4.47071138
24regulation of synapse structural plasticity (GO:0051823)4.44850757
25activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)4.43090677
26regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)4.40885502
27synaptic vesicle docking involved in exocytosis (GO:0016081)4.34710721
28cell migration involved in heart development (GO:0060973)4.34161299
29positive regulation of calcium ion-dependent exocytosis (GO:0045956)4.30670511
30cellular response to vitamin (GO:0071295)4.29690069
31ionotropic glutamate receptor signaling pathway (GO:0035235)4.29511895
32mesenchymal-epithelial cell signaling (GO:0060638)4.28213461
33glutamate secretion (GO:0014047)4.19513975
34regulation of vascular endothelial growth factor signaling pathway (GO:1900746)4.14876662
35heparan sulfate proteoglycan biosynthetic process (GO:0015012)4.14544398
36extracellular negative regulation of signal transduction (GO:1900116)4.14069154
37extracellular regulation of signal transduction (GO:1900115)4.14069154
38extracellular fibril organization (GO:0043206)4.12774848
39regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)4.12634726
40adhesion of symbiont to host (GO:0044406)4.11197680
41regulation of synaptic vesicle exocytosis (GO:2000300)4.07046865
42regulation of long-term neuronal synaptic plasticity (GO:0048169)4.05026227
43substrate-dependent cell migration (GO:0006929)4.03738711
44postsynaptic membrane organization (GO:0001941)4.03092169
45COPI coating of Golgi vesicle (GO:0048205)4.00702459
46Golgi transport vesicle coating (GO:0048200)4.00702459
47cellular response to vitamin D (GO:0071305)4.00294214
48metanephric mesenchyme development (GO:0072075)3.99464143
49auditory behavior (GO:0031223)3.98727144
50cell migration involved in sprouting angiogenesis (GO:0002042)3.97939481
51membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.96331884
52regulation of neuronal synaptic plasticity (GO:0048168)3.94990854
53exploration behavior (GO:0035640)3.93019918
54presynaptic membrane assembly (GO:0097105)3.92520997
55neuronal action potential propagation (GO:0019227)3.91045779
56protein retention in ER lumen (GO:0006621)3.88031110
57dermatan sulfate biosynthetic process (GO:0030208)3.87209891
58blood vessel maturation (GO:0001955)3.86495179
59positive regulation of synaptic transmission, glutamatergic (GO:0051968)3.85894544
60neuron-neuron synaptic transmission (GO:0007270)3.85801404
61negative regulation of leukocyte chemotaxis (GO:0002689)3.84232262
62cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.84147288
63glutamate receptor signaling pathway (GO:0007215)3.80476331
64synaptic transmission, glutamatergic (GO:0035249)3.78109718
65cell adhesion mediated by integrin (GO:0033627)3.77925221
66prepulse inhibition (GO:0060134)3.77326635
67layer formation in cerebral cortex (GO:0021819)3.74767198
68response to histamine (GO:0034776)3.74639602
69dermatan sulfate metabolic process (GO:0030205)3.73416433
70negative regulation of osteoblast proliferation (GO:0033689)3.72223919
71dendritic spine morphogenesis (GO:0060997)3.71542390
72neurotransmitter secretion (GO:0007269)3.67229958
73regulation of extracellular matrix disassembly (GO:0010715)3.65623213
74maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.64142568
75vascular endothelial growth factor signaling pathway (GO:0038084)3.63447474
76regulation of synaptic vesicle transport (GO:1902803)3.61209911
77response to auditory stimulus (GO:0010996)3.61089695
78regulation of excitatory postsynaptic membrane potential (GO:0060079)3.60377013
79negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)3.59003040
80collagen metabolic process (GO:0032963)3.58478099
81presynaptic membrane organization (GO:0097090)3.58217199
82long-term memory (GO:0007616)3.57432913
83regulation of synaptic transmission, glutamatergic (GO:0051966)3.55643202
84fibril organization (GO:0097435)3.55416044
85regulation of dendritic spine morphogenesis (GO:0061001)3.54692884
86neuron recognition (GO:0008038)3.49199778
87transmission of nerve impulse (GO:0019226)3.48425715
88cellular response to interferon-alpha (GO:0035457)3.47974463
89negative regulation of synaptic transmission, glutamatergic (GO:0051967)3.46949772
90synaptic transmission, dopaminergic (GO:0001963)3.46587778
91long-term synaptic potentiation (GO:0060291)3.46571956
92positive regulation of synaptic transmission, GABAergic (GO:0032230)3.45481965
93positive regulation of protein autophosphorylation (GO:0031954)3.45384923
94embryonic cranial skeleton morphogenesis (GO:0048701)3.45359659
95gamma-aminobutyric acid transport (GO:0015812)3.44691034
96neuron projection extension involved in neuron projection guidance (GO:1902284)3.43391905
97axon extension involved in axon guidance (GO:0048846)3.43391905
98regulation of plasminogen activation (GO:0010755)3.43123758
99positive regulation of membrane potential (GO:0045838)3.42587265
100positive regulation of fibroblast migration (GO:0010763)3.41595708
101regulation of postsynaptic membrane potential (GO:0060078)3.41572776
102adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)3.41470515
103collagen catabolic process (GO:0030574)3.37942502
104glomerular basement membrane development (GO:0032836)3.35210720
105chondrocyte development (GO:0002063)3.34957345
106regulation of synaptic plasticity (GO:0048167)3.31539150
107striatum development (GO:0021756)3.31153773
108regulation of respiratory gaseous exchange by neurological system process (GO:0002087)3.30898264
109negative regulation of BMP signaling pathway (GO:0030514)3.30799387
110regulation of inhibitory postsynaptic membrane potential (GO:0060080)3.29941511
111negative regulation of synaptic transmission, GABAergic (GO:0032229)3.29742940
112multicellular organismal macromolecule metabolic process (GO:0044259)3.29486233
113negative regulation of smooth muscle cell migration (GO:0014912)3.28712389
114mechanosensory behavior (GO:0007638)3.27813689
115positive regulation of blood vessel endothelial cell migration (GO:0043536)3.26516676
116behavioral response to cocaine (GO:0048148)3.25436322
117cellular potassium ion homeostasis (GO:0030007)3.25173334
118axonal fasciculation (GO:0007413)3.23830489
119regulation of glutamate secretion (GO:0014048)3.22195283
120proline transport (GO:0015824)3.22106570
121heparan sulfate proteoglycan metabolic process (GO:0030201)3.22033329
122positive regulation of synapse maturation (GO:0090129)3.20641711
123positive regulation of axon extension (GO:0045773)3.20600332
124regulation of branching involved in salivary gland morphogenesis (GO:0060693)3.16341822
125multicellular organismal metabolic process (GO:0044236)3.14922573
126regulation of integrin-mediated signaling pathway (GO:2001044)3.11049591
127positive regulation of neurotransmitter secretion (GO:0001956)3.10490273
128axon extension (GO:0048675)3.10487281
129positive regulation of neurotransmitter transport (GO:0051590)3.09817105
130dichotomous subdivision of an epithelial terminal unit (GO:0060600)3.08195939
131neuromuscular process controlling balance (GO:0050885)3.08178793
132neurotransmitter transport (GO:0006836)3.07971867
133regulation of female receptivity (GO:0045924)3.06226321
134endocardial cushion development (GO:0003197)3.05811624
135extracellular matrix organization (GO:0030198)3.05271465
136regulation of dendritic spine development (GO:0060998)3.05122807
137extracellular structure organization (GO:0043062)3.04969434
138tooth mineralization (GO:0034505)3.04573474
139multicellular organismal catabolic process (GO:0044243)3.03986216
140barbed-end actin filament capping (GO:0051016)3.03854109
141cellular response to amino acid stimulus (GO:0071230)3.03710787
142dendrite morphogenesis (GO:0048813)3.03570201
143learning (GO:0007612)3.03036520
144negative regulation of axon extension involved in axon guidance (GO:0048843)3.02455406
145gamma-aminobutyric acid signaling pathway (GO:0007214)3.01942804
146neuronal ion channel clustering (GO:0045161)3.01768164
147regulation of neurotransmitter uptake (GO:0051580)3.00773320
148extracellular matrix disassembly (GO:0022617)3.00026502
149negative regulation of protein localization to plasma membrane (GO:1903077)2.99091373
150response to amphetamine (GO:0001975)2.99054689
151regulation of neurotransmitter transport (GO:0051588)2.98580724
152regulation of neurotransmitter secretion (GO:0046928)2.97742501
153regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)2.96412031
154regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.96412031
155regulation of vesicle fusion (GO:0031338)2.93484892
156middle ear morphogenesis (GO:0042474)2.92818200
157regulation of osteoblast proliferation (GO:0033688)2.91997617
158dopamine receptor signaling pathway (GO:0007212)2.91957241
159COPII vesicle coating (GO:0048208)2.91898062
160regulation of chemokine-mediated signaling pathway (GO:0070099)2.91362045
161membrane depolarization (GO:0051899)2.90943613
162positive regulation of synaptic transmission (GO:0050806)2.90668312
163membrane hyperpolarization (GO:0060081)2.90543523
164positive regulation of dendritic spine development (GO:0060999)2.90400786
165synapse assembly (GO:0007416)2.89652375
166female mating behavior (GO:0060180)2.88935643
167activation of protein kinase A activity (GO:0034199)2.88684678
168negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)2.88455218
169regulation of respiratory system process (GO:0044065)2.88350904
170positive regulation of endothelial cell apoptotic process (GO:2000353)2.87718336
171startle response (GO:0001964)2.87709999
172positive regulation of smoothened signaling pathway (GO:0045880)2.87464328
173G-protein coupled glutamate receptor signaling pathway (GO:0007216)2.87440218
174regulation of axon extension involved in axon guidance (GO:0048841)2.87368746
175proteoglycan biosynthetic process (GO:0030166)2.87295459
176regulation of neurotransmitter levels (GO:0001505)2.87024431
177substrate adhesion-dependent cell spreading (GO:0034446)2.84517749
178stress fiber assembly (GO:0043149)2.83258207
179keratan sulfate catabolic process (GO:0042340)2.82858076
180mating behavior (GO:0007617)2.81848924
181positive regulation of synapse assembly (GO:0051965)2.80994764
182negative regulation of cytosolic calcium ion concentration (GO:0051481)2.80915917
183G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.80739139
184planar cell polarity pathway involved in neural tube closure (GO:0090179)2.79748962
185behavioral defense response (GO:0002209)2.79542908
186behavioral fear response (GO:0001662)2.79542908
187regulation of synaptic transmission, GABAergic (GO:0032228)2.78835721
188negative regulation of chondrocyte differentiation (GO:0032331)2.77555106
189smooth muscle tissue development (GO:0048745)2.76517767
190regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)2.74433905
191neuron projection extension (GO:1990138)2.71563390
192protein localization to cell surface (GO:0034394)2.70378208
193actin filament depolymerization (GO:0030042)2.69161041
194trabecula formation (GO:0060343)2.68147314
195negative regulation of fatty acid transport (GO:2000192)2.68128324
196negative regulation of nitric-oxide synthase activity (GO:0051001)2.65632401
197negative regulation of embryonic development (GO:0045992)2.63972140
198positive regulation of osteoblast proliferation (GO:0033690)2.61147316
199vesicle coating (GO:0006901)2.61079466
200heparin metabolic process (GO:0030202)2.60542816

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRIM28_21343339_ChIP-Seq_HEK293_Human6.49995359
2PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse5.43628415
3EZH2_22144423_ChIP-Seq_EOC_Human5.21205777
4RARG_19884340_ChIP-ChIP_MEFs_Mouse4.01910462
5GBX2_23144817_ChIP-Seq_PC3_Human3.47372859
6* BRD4_25478319_ChIP-Seq_HGPS_Human3.29999130
7* SUZ12_18692474_ChIP-Seq_MESCs_Mouse3.15321028
8WT1_19549856_ChIP-ChIP_CCG9911_Human3.14328206
9JARID2_20064375_ChIP-Seq_MESCs_Mouse3.11964248
10* SUZ12_18555785_ChIP-Seq_MESCs_Mouse3.10705325
11ESR1_20079471_ChIP-ChIP_T-47D_Human2.74852221
12* EZH2_18974828_ChIP-Seq_MESCs_Mouse2.74757809
13* RNF2_18974828_ChIP-Seq_MESCs_Mouse2.74757809
14* SUZ12_18974828_ChIP-Seq_MESCs_Mouse2.71581958
15* JARID2_20075857_ChIP-Seq_MESCs_Mouse2.68463541
16RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.68344648
17EZH2_27304074_Chip-Seq_ESCs_Mouse2.67688115
18* CJUN_26792858_Chip-Seq_BT549_Human2.65589408
19* SUZ12_16625203_ChIP-ChIP_MESCs_Mouse2.64942708
20* SUZ12_18692474_ChIP-Seq_MEFs_Mouse2.64565755
21CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.59543955
22EED_16625203_ChIP-ChIP_MESCs_Mouse2.50075396
23TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.46468151
24* MTF2_20144788_ChIP-Seq_MESCs_Mouse2.45422132
25TP63_17297297_ChIP-ChIP_HaCaT_Human2.42900074
26* SUZ12_20075857_ChIP-Seq_MESCs_Mouse2.40831108
27AR_21572438_ChIP-Seq_LNCaP_Human2.37274265
28* RARB_27405468_Chip-Seq_BRAIN_Mouse2.26102475
29* RNF2_27304074_Chip-Seq_ESCs_Mouse2.25542993
30SUZ12_27294783_Chip-Seq_ESCs_Mouse2.24787794
31* EZH2_27294783_Chip-Seq_ESCs_Mouse2.24041087
32* REST_21632747_ChIP-Seq_MESCs_Mouse2.23553916
33CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse2.17839504
34DROSHA_22980978_ChIP-Seq_HELA_Human2.16152986
35NFE2L2_20460467_ChIP-Seq_MEFs_Mouse2.11014452
36NRF2_20460467_ChIP-Seq_MEFs_Mouse2.11014452
37EP300_21415370_ChIP-Seq_HL-1_Mouse1.94825648
38NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.93261862
39ESR1_21235772_ChIP-Seq_MCF-7_Human1.90106610
40* CTBP2_25329375_ChIP-Seq_LNCAP_Human1.88048002
41TAF15_26573619_Chip-Seq_HEK293_Human1.87252892
42GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.82029372
43* IKZF1_21737484_ChIP-ChIP_HCT116_Human1.79055821
44TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.77078451
45REST_18959480_ChIP-ChIP_MESCs_Mouse1.76827836
46HIF1A_21447827_ChIP-Seq_MCF-7_Human1.74184387
47ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.69078125
48* CTBP1_25329375_ChIP-Seq_LNCAP_Human1.68819049
49MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.64469891
50GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.61033894
51CBX2_27304074_Chip-Seq_ESCs_Mouse1.60982929
52ZFP57_27257070_Chip-Seq_ESCs_Mouse1.59921798
53PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.59579358
54CDKN2AIP_20523734_ChIP-Seq_CORTICAL_Neurons1.58464526
55* SMAD4_21799915_ChIP-Seq_A2780_Human1.57636209
56PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.55718669
57ERG_21242973_ChIP-ChIP_JURKAT_Human1.54214715
58RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.51330820
59* P300_19829295_ChIP-Seq_ESCs_Human1.50202894
60ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.49192630
61SMC1_22415368_ChIP-Seq_MEFs_Mouse1.47917197
62CLOCK_20551151_ChIP-Seq_293T_Human1.47735822
63SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.47119556
64TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.46348350
65ESR2_21235772_ChIP-Seq_MCF-7_Human1.44746613
66SA1_22415368_ChIP-Seq_MEFs_Mouse1.43502892
67SMAD3_21741376_ChIP-Seq_EPCs_Human1.43186439
68BMI1_23680149_ChIP-Seq_NPCS_Mouse1.42002467
69PIAS1_25552417_ChIP-Seq_VCAP_Human1.41049641
70SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.41046687
71SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.40732625
72SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.40387868
73SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.40387868
74EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.38057982
75* RING1B_27294783_Chip-Seq_ESCs_Mouse1.36806688
76JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.33407316
77ESR1_15608294_ChIP-ChIP_MCF-7_Human1.33189262
78CDX2_19796622_ChIP-Seq_MESCs_Mouse1.32636234
79* TP53_16413492_ChIP-PET_HCT116_Human1.32132380
80EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.31738586
81JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.31326893
82SMAD_19615063_ChIP-ChIP_OVARY_Human1.30703916
83MEF2A_21415370_ChIP-Seq_HL-1_Mouse1.29246945
84P300_27058665_Chip-Seq_ZR-75-30cells_Human1.27803362
85TP53_23651856_ChIP-Seq_MEFs_Mouse1.25898680
86SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.24649804
87AR_25329375_ChIP-Seq_VCAP_Human1.22824408
88* TOP2B_26459242_ChIP-Seq_MCF-7_Human1.22667174
89* OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.21503798
90TP53_22127205_ChIP-Seq_IMR90_Human1.21212830
91HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse1.20974518
92* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.20756757
93* RING1B_27294783_Chip-Seq_NPCs_Mouse1.20721363
94RNF2_27304074_Chip-Seq_NSC_Mouse1.19097748
95* SOX2_21211035_ChIP-Seq_LN229_Gbm1.18768119
96* SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.18761370
97POU3F2_20337985_ChIP-ChIP_501MEL_Human1.17332998
98SOX9_24532713_ChIP-Seq_HFSC_Mouse1.13948476
99SMC3_22415368_ChIP-Seq_MEFs_Mouse1.13562187
100WT1_25993318_ChIP-Seq_PODOCYTE_Human1.13057262
101THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.12851371
102FUS_26573619_Chip-Seq_HEK293_Human1.12434989
103* STAT3_23295773_ChIP-Seq_U87_Human1.12292856
104NR3C1_23031785_ChIP-Seq_PC12_Mouse1.10772058
105* ARNT_22903824_ChIP-Seq_MCF-7_Human1.08885899
106* TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.08712141
107UBF1/2_26484160_Chip-Seq_HMECs_Human1.07520384
108UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.06976507
109AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.06778164
110TP53_18474530_ChIP-ChIP_U2OS_Human1.05933186
111AR_19668381_ChIP-Seq_PC3_Human1.05597933
112CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.05462839
113IGF1R_20145208_ChIP-Seq_DFB_Human1.04927654
114ELK3_25401928_ChIP-Seq_HUVEC_Human1.04615084
115* AHR_22903824_ChIP-Seq_MCF-7_Human1.03972789
116* TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.03918775
117P53_22127205_ChIP-Seq_FIBROBLAST_Human1.03778197
118BCAT_22108803_ChIP-Seq_LS180_Human1.03584683
119VDR_22108803_ChIP-Seq_LS180_Human1.03238501
120NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.03036809
121PPAR_26484153_Chip-Seq_NCI-H1993_Human1.02999736
122TCF4_23295773_ChIP-Seq_U87_Human1.02713140
123RUNX2_22187159_ChIP-Seq_PCA_Human1.02408656
124NR3C1_21868756_ChIP-Seq_MCF10A_Human1.01874483
125* MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse1.00882993
126GATA2_21666600_ChIP-Seq_HMVEC_Human1.00375238
127SMAD3_21741376_ChIP-Seq_HESCs_Human1.00268281
128* SOX9_26525672_Chip-Seq_Limbbuds_Mouse0.99810345
129ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.99265544
130ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.99262943
131RCOR3_21632747_ChIP-Seq_MESCs_Mouse0.99243581
132* FOXM1_26456572_ChIP-Seq_MCF-7_Human0.98526519
133TP53_20018659_ChIP-ChIP_R1E_Mouse0.97739064
134PRDM14_20953172_ChIP-Seq_ESCs_Human0.97589874
135YAP1_20516196_ChIP-Seq_MESCs_Mouse0.97529584
136ZNF274_21170338_ChIP-Seq_K562_Hela0.96368864
137* DNAJC2_21179169_ChIP-ChIP_NT2_Human0.95782787
138CEBPB_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95527634
139* TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse0.95346132
140TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.95100374
141TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.94982297
142SMAD4_21741376_ChIP-Seq_HESCs_Human0.94689123
143WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.94101679
144KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.93060072
145SMAD3_21741376_ChIP-Seq_ESCs_Human0.92634058
146RBPJ_22232070_ChIP-Seq_NCS_Mouse0.91618669
147TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.91061162
148PPARG_20176806_ChIP-Seq_3T3-L1_Mouse0.90859628
149TBX20_22328084_ChIP-Seq_HEART_Mouse0.90840352
150TBX20_22080862_ChIP-Seq_HEART_Mouse0.90840352
151FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.90355234
152TBX3_20139965_ChIP-Seq_ESCs_Mouse0.90066468
153TBX3_20139965_ChIP-Seq_MESCs_Mouse0.89393383
154TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.89252230
155POU5F1_26923725_Chip-Seq_MESODERM_Mouse0.89252230
156JUN_21703547_ChIP-Seq_K562_Human0.88823454
157NFIB_24661679_ChIP-Seq_LUNG_Mouse0.88559368
158RXR_22108803_ChIP-Seq_LS180_Human0.87991782
159* NANOG_18555785_Chip-Seq_ESCs_Mouse0.87739748
160* ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.86498229
161UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.85468540
162* PPARD_21283829_ChIP-Seq_MYOFIBROBLAST_Human0.85438626
163ISL1_27105846_Chip-Seq_CPCs_Mouse0.84911122
164EOMES_20176728_ChIP-ChIP_TSCs_Mouse0.84906553
165* DMRT1_23473982_ChIP-Seq_TESTES_Mouse0.84851290

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen8.57416265
2MP0004859_abnormal_synaptic_plasticity5.74270722
3MP0005503_abnormal_tendon_morphology5.08606066
4MP0003705_abnormal_hypodermis_morpholog4.80581199
5MP0003880_abnormal_central_pattern4.73936596
6MP0005275_abnormal_skin_tensile4.63274533
7MP0001958_emphysema4.47413546
8MP0009384_cardiac_valve_regurgitation3.97136634
9MP0003279_aneurysm3.95024207
10MP0003635_abnormal_synaptic_transmissio3.89048195
11MP0002822_catalepsy3.64921468
12MP0004270_analgesia3.57366285
13* MP0009745_abnormal_behavioral_response3.39292972
14MP0002063_abnormal_learning/memory/cond3.22761602
15MP0004272_abnormal_basement_membrane2.97447116
16* MP0002064_seizures2.89818890
17MP0002572_abnormal_emotion/affect_behav2.86162916
18MP0005423_abnormal_somatic_nervous2.82211445
19MP0001968_abnormal_touch/_nociception2.81412094
20MP0009046_muscle_twitch2.78122251
21MP0001486_abnormal_startle_reflex2.71686410
22MP0005257_abnormal_intraocular_pressure2.71201296
23MP0001542_abnormal_bone_strength2.66548943
24MP0006054_spinal_hemorrhage2.51431551
25MP0002272_abnormal_nervous_system2.40288567
26MP0002734_abnormal_mechanical_nocicepti2.30921127
27MP0001501_abnormal_sleep_pattern2.25337859
28MP0001440_abnormal_grooming_behavior2.23891510
29MP0002254_reproductive_system_inflammat2.16587186
30MP0001984_abnormal_olfaction2.09836978
31MP0010368_abnormal_lymphatic_system2.09525710
32MP0003941_abnormal_skin_development2.05617756
33MP0002736_abnormal_nociception_after2.04005686
34MP0009780_abnormal_chondrocyte_physiolo2.00903813
35MP0002060_abnormal_skin_morphology1.99580346
36MP0005646_abnormal_pituitary_gland1.94889031
37MP0002295_abnormal_pulmonary_circulatio1.92341455
38MP0003566_abnormal_cell_adhesion1.92030132
39MP0003950_abnormal_plasma_membrane1.91931269
40MP0000778_abnormal_nervous_system1.90550531
41MP0005508_abnormal_skeleton_morphology1.87367349
42MP0004858_abnormal_nervous_system1.86332634
43MP0002067_abnormal_sensory_capabilities1.85804282
44MP0000767_abnormal_smooth_muscle1.83848539
45MP0002557_abnormal_social/conspecific_i1.83756974
46MP0002896_abnormal_bone_mineralization1.82761670
47MP0002733_abnormal_thermal_nociception1.75929861
48MP0001529_abnormal_vocalization1.73599916
49MP0001243_abnormal_dermal_layer1.70765205
50MP0005386_behavior/neurological_phenoty1.70605197
51MP0004924_abnormal_behavior1.70605197
52MP0001970_abnormal_pain_threshold1.70558080
53MP0002735_abnormal_chemical_nociception1.68298253
54MP0002184_abnormal_innervation1.63091264
55MP0002108_abnormal_muscle_morphology1.60650600
56MP0001905_abnormal_dopamine_level1.55720310
57MP0001188_hyperpigmentation1.55581152
58MP0002909_abnormal_adrenal_gland1.54583339
59MP0010386_abnormal_urinary_bladder1.53539921
60MP0008569_lethality_at_weaning1.50809606
61MP0004811_abnormal_neuron_physiology1.49103549
62MP0004885_abnormal_endolymph1.48310227
63MP0003329_amyloid_beta_deposits1.46394066
64MP0005023_abnormal_wound_healing1.44420238
65MP0005394_taste/olfaction_phenotype1.43186059
66MP0005499_abnormal_olfactory_system1.43186059
67MP0002882_abnormal_neuron_morphology1.35608688
68MP0006276_abnormal_autonomic_nervous1.34570185
69MP0000955_abnormal_spinal_cord1.34099671
70MP0010352_gastrointestinal_tract_polyps1.33804322
71MP0005645_abnormal_hypothalamus_physiol1.31656797
72MP0004134_abnormal_chest_morphology1.30173878
73MP0002066_abnormal_motor_capabilities/c1.27797063
74MP0003091_abnormal_cell_migration1.27454612
75MP0010030_abnormal_orbit_morphology1.26082751
76MP0001348_abnormal_lacrimal_gland1.22207207
77MP0003122_maternal_imprinting1.19308999
78MP0002282_abnormal_trachea_morphology1.17138120
79MP0003942_abnormal_urinary_system1.17110471
80MP0003633_abnormal_nervous_system1.16080361
81MP0003136_yellow_coat_color1.15973228
82MP0003879_abnormal_hair_cell1.14756124
83MP0005409_darkened_coat_color1.13668763
84MP0005595_abnormal_vascular_smooth1.12775233
85MP0001177_atelectasis1.12390658
86MP0004742_abnormal_vestibular_system1.12208672
87MP0004142_abnormal_muscle_tone1.11724785
88MP0004233_abnormal_muscle_weight1.09187777
89MP0000163_abnormal_cartilage_morphology1.08945663
90MP0002115_abnormal_skeleton_extremities1.08746084
91MP0000733_abnormal_muscle_development1.08175242
92MP0000751_myopathy1.07730593
93MP0000428_abnormal_craniofacial_morphol1.06985316
94MP0001502_abnormal_circadian_rhythm1.06802568
95MP0009053_abnormal_anal_canal1.06313064
96MP0002152_abnormal_brain_morphology1.05010737
97MP0003690_abnormal_glial_cell1.04314133
98MP0003385_abnormal_body_wall1.02383553
99MP0000569_abnormal_digit_pigmentation1.00075278
100MP0003631_nervous_system_phenotype0.99005540
101MP0001879_abnormal_lymphatic_vessel0.97345966
102MP0003191_abnormal_cellular_cholesterol0.96123606
103MP0000631_abnormal_neuroendocrine_gland0.95309427
104MP0000427_abnormal_hair_cycle0.95283748
105MP0008872_abnormal_physiological_respon0.94649618
106MP0003787_abnormal_imprinting0.92403435
107MP0002113_abnormal_skeleton_development0.92064476
108MP0000759_abnormal_skeletal_muscle0.90969106
109MP0005390_skeleton_phenotype0.89581457
110MP0003634_abnormal_glial_cell0.88830980
111MP0002168_other_aberrant_phenotype0.87671964
112MP0002069_abnormal_eating/drinking_beha0.87392155
113MP0003283_abnormal_digestive_organ0.86648447
114MP0005248_abnormal_Harderian_gland0.84951295
115MP0001963_abnormal_hearing_physiology0.84063164
116MP0002249_abnormal_larynx_morphology0.83738116
117MP0002877_abnormal_melanocyte_morpholog0.82711993
118MP0005623_abnormal_meninges_morphology0.82541270
119MP0008789_abnormal_olfactory_epithelium0.81649591
120MP0002752_abnormal_somatic_nervous0.80978815
121MP0001346_abnormal_lacrimal_gland0.80838064
122MP0000749_muscle_degeneration0.79844140
123MP0000681_abnormal_thyroid_gland0.79403085
124MP0005388_respiratory_system_phenotype0.79396299
125MP0002133_abnormal_respiratory_system0.79396299
126MP0005171_absent_coat_pigmentation0.79052651
127MP0004085_abnormal_heartbeat0.78646006
128MP0005551_abnormal_eye_electrophysiolog0.77582825
129MP0003755_abnormal_palate_morphology0.77361479
130MP0000432_abnormal_head_morphology0.76246966
131MP0005083_abnormal_biliary_tract0.75864055
132MP0001664_abnormal_digestion0.75554317
133MP0001881_abnormal_mammary_gland0.75327006
134MP0003115_abnormal_respiratory_system0.74671520
135MP0000462_abnormal_digestive_system0.74350993
136MP0000026_abnormal_inner_ear0.73065532
137MP0003137_abnormal_impulse_conducting0.70840925
138* MP0008874_decreased_physiological_sensi0.70609000
139MP0002229_neurodegeneration0.70157573
140MP0003632_abnormal_nervous_system0.69838848
141MP0000534_abnormal_ureter_morphology0.69703480
142MP0000762_abnormal_tongue_morphology0.69540316
143MP0002116_abnormal_craniofacial_bone0.69532841
144MP0000538_abnormal_urinary_bladder0.69039625
145MP0002114_abnormal_axial_skeleton0.68731200
146MP0003795_abnormal_bone_structure0.68550369
147MP0003937_abnormal_limbs/digits/tail_de0.68362198
148MP0000920_abnormal_myelination0.67745581
149MP0002090_abnormal_vision0.67662938
150MP0003938_abnormal_ear_development0.67602230
151MP0001485_abnormal_pinna_reflex0.67442346
152MP0005167_abnormal_blood-brain_barrier0.66987936
153* MP0003075_altered_response_to0.66763322
154MP0000013_abnormal_adipose_tissue0.66527561
155MP0005535_abnormal_body_temperature0.66300410
156MP0005408_hypopigmentation0.65367004
157MP0004145_abnormal_muscle_electrophysio0.64969344
158MP0002932_abnormal_joint_morphology0.64284043
159MP0000467_abnormal_esophagus_morphology0.63836218
160MP0000003_abnormal_adipose_tissue0.63739085
161MP0001943_abnormal_respiration0.63593495
162MP0002128_abnormal_blood_circulation0.63483143
163MP0006292_abnormal_olfactory_placode0.62138972
164MP0003448_altered_tumor_morphology0.61034357
165MP0002109_abnormal_limb_morphology0.59805961
166MP0008961_abnormal_basal_metabolism0.59567949
167MP0000627_abnormal_mammary_gland0.59324725
168MP0009250_abnormal_appendicular_skeleto0.59127856
169MP0000049_abnormal_middle_ear0.58651327
170MP0001849_ear_inflammation0.58386394
171MP0002234_abnormal_pharynx_morphology0.56194354
172MP0003861_abnormal_nervous_system0.55817600
173MP0002876_abnormal_thyroid_physiology0.55718902
174MP0002233_abnormal_nose_morphology0.55036267
175MP0002796_impaired_skin_barrier0.55018101
176MP0001175_abnormal_lung_morphology0.54804011
177MP0005501_abnormal_skin_physiology0.54142365
178MP0005197_abnormal_uvea_morphology0.53950764
179MP0010771_integument_phenotype0.53921502
180MP0003935_abnormal_craniofacial_develop0.53613005
181MP0004883_abnormal_blood_vessel0.53307167
182MP0002177_abnormal_outer_ear0.53102816
183MP0001299_abnormal_eye_distance/0.52388327
184MP0002102_abnormal_ear_morphology0.52179446
185MP0002751_abnormal_autonomic_nervous0.51648920
186MP0005164_abnormal_response_to0.49463758
187MP0001614_abnormal_blood_vessel0.47654898
188MP0003045_fibrosis0.46165773

Predicted human phenotypes

RankGene SetZ-score
1Focal motor seizures (HP:0011153)7.85540788
2Protrusio acetabuli (HP:0003179)7.76749817
3Premature rupture of membranes (HP:0001788)7.68570015
4Myokymia (HP:0002411)6.39230857
5Ankle contracture (HP:0006466)5.58586741
6Focal seizures (HP:0007359)5.42395280
7Follicular hyperkeratosis (HP:0007502)4.94258377
8Broad metatarsal (HP:0001783)4.84410453
9Aortic aneurysm (HP:0004942)4.73701811
10Epileptic encephalopathy (HP:0200134)4.62073795
11Soft skin (HP:0000977)4.61990697
12Aortic dissection (HP:0002647)4.59062008
13Cervical subluxation (HP:0003308)4.35985671
14Vascular tortuosity (HP:0004948)4.35069702
15Type 1 muscle fiber predominance (HP:0003803)4.25587369
16Genu recurvatum (HP:0002816)4.13352269
17Visual hallucinations (HP:0002367)4.09294570
18Bladder diverticulum (HP:0000015)3.96967959
19Abnormality of dentin (HP:0010299)3.95783323
20Slender build (HP:0001533)3.91729930
21Atonic seizures (HP:0010819)3.85013664
22Spinal rigidity (HP:0003306)3.77086293
23Broad-based gait (HP:0002136)3.75074770
24Febrile seizures (HP:0002373)3.68059784
25Wormian bones (HP:0002645)3.64711130
26Progressive cerebellar ataxia (HP:0002073)3.64005613
27Hyperventilation (HP:0002883)3.63737924
28Neonatal short-limb short stature (HP:0008921)3.59261704
29Absence seizures (HP:0002121)3.57670966
30Shallow orbits (HP:0000586)3.57164401
31Generalized tonic-clonic seizures (HP:0002069)3.48833977
32Action tremor (HP:0002345)3.44867103
33Arterial tortuosity (HP:0005116)3.44104994
34Atrophic scars (HP:0001075)3.36705332
35Bowel diverticulosis (HP:0005222)3.29522205
36Dialeptic seizures (HP:0011146)3.26342316
37Blue sclerae (HP:0000592)3.20845699
38Fragile skin (HP:0001030)3.20650434
39Ankle clonus (HP:0011448)3.20521581
40Dilatation of the ascending aorta (HP:0005111)3.20342226
41Spondylolisthesis (HP:0003302)3.18778527
42Vertebral compression fractures (HP:0002953)3.15732372
43Overgrowth (HP:0001548)3.10289121
44Aortic regurgitation (HP:0001659)3.01672902
45Aplasia involving bones of the upper limbs (HP:0009823)2.96724042
46Aplasia of the phalanges of the hand (HP:0009802)2.96724042
47Aplasia involving bones of the extremities (HP:0009825)2.96724042
48Gaze-evoked nystagmus (HP:0000640)2.93650928
49Neurofibrillary tangles (HP:0002185)2.91328492
50Dysdiadochokinesis (HP:0002075)2.90256810
51Anxiety (HP:0000739)2.87692694
52Joint laxity (HP:0001388)2.85765728
53Biconcave vertebral bodies (HP:0004586)2.85284752
54Ovoid vertebral bodies (HP:0003300)2.83985958
55Abnormal eating behavior (HP:0100738)2.81065688
56Mitral regurgitation (HP:0001653)2.80803065
57Amblyopia (HP:0000646)2.79762410
58Joint stiffness (HP:0001387)2.79441456
59Peritonitis (HP:0002586)2.78406816
60Hyperextensible skin (HP:0000974)2.78375098
61Impaired vibration sensation in the lower limbs (HP:0002166)2.78115833
62Torticollis (HP:0000473)2.75298255
63Depression (HP:0000716)2.72893803
64Supranuclear gaze palsy (HP:0000605)2.71275141
65Sparse lateral eyebrow (HP:0005338)2.70904606
66Coronal craniosynostosis (HP:0004440)2.70409016
67Aortic valve stenosis (HP:0001650)2.70326842
68Abnormality of the acetabulum (HP:0003170)2.68957034
69Megalencephaly (HP:0001355)2.68851662
70Osteolytic defects of the phalanges of the hand (HP:0009771)2.68429253
71Osteolytic defects of the hand bones (HP:0009699)2.68429253
72Mild short stature (HP:0003502)2.65218991
73Mildly elevated creatine phosphokinase (HP:0008180)2.64732616
74Abnormal ciliary motility (HP:0012262)2.64380385
75Poor eye contact (HP:0000817)2.62381502
76Mitral stenosis (HP:0001718)2.62060024
77Hemiparesis (HP:0001269)2.61088332
78Cerebral inclusion bodies (HP:0100314)2.59912307
79Dysmetria (HP:0001310)2.59356248
80Urinary bladder sphincter dysfunction (HP:0002839)2.59051284
81Wrist flexion contracture (HP:0001239)2.58447939
82Dynein arm defect of respiratory motile cilia (HP:0012255)2.56807728
83Absent/shortened dynein arms (HP:0200106)2.56807728
84Drooling (HP:0002307)2.54754229
85Excessive salivation (HP:0003781)2.54754229
86Elbow flexion contracture (HP:0002987)2.54450321
87Postural instability (HP:0002172)2.52180484
88Broad ribs (HP:0000885)2.50474160
89Increased variability in muscle fiber diameter (HP:0003557)2.49298586
90Diplopia (HP:0000651)2.47056807
91Abnormality of binocular vision (HP:0011514)2.47056807
92Abnormal delivery (HP:0001787)2.45459503
93Polyphagia (HP:0002591)2.43468210
94Truncal ataxia (HP:0002078)2.41292425
95Progressive inability to walk (HP:0002505)2.41084013
96Focal dystonia (HP:0004373)2.40974998
97Breech presentation (HP:0001623)2.40503477
98Mitral valve prolapse (HP:0001634)2.35225366
99Mutism (HP:0002300)2.35111924
100Limb dystonia (HP:0002451)2.35033756
101Redundant skin (HP:0001582)2.33962277
102Abnormal respiratory motile cilium physiology (HP:0012261)2.32740836
103Flared iliac wings (HP:0002869)2.32529716
104Osteoarthritis (HP:0002758)2.31184855
105Wide anterior fontanel (HP:0000260)2.30732117
106Thin bony cortex (HP:0002753)2.29959206
107Papilledema (HP:0001085)2.29790077
108Narrow nasal bridge (HP:0000446)2.29263140
109Urinary urgency (HP:0000012)2.29241928
110Genetic anticipation (HP:0003743)2.28679481
111Lower limb amyotrophy (HP:0007210)2.27576559
112Cardiovascular calcification (HP:0011915)2.27077440
113Obstructive sleep apnea (HP:0002870)2.27000508
114Sleep apnea (HP:0010535)2.25737435
115Impaired social interactions (HP:0000735)2.24944636
116Abnormal social behavior (HP:0012433)2.24944636
117Abnormality of the phalanges of the hallux (HP:0010057)2.23651014
118Infantile muscular hypotonia (HP:0008947)2.21859019
119Delayed closure of the anterior fontanelle (HP:0001476)2.20356469
120Round ear (HP:0100830)2.18548759
121Flat cornea (HP:0007720)2.17788115
122Short nail (HP:0001799)2.17457084
123Epileptiform EEG discharges (HP:0011182)2.16937164
124Bronchomalacia (HP:0002780)2.16736263
125Fetal akinesia sequence (HP:0001989)2.16090744
126Stereotypic behavior (HP:0000733)2.15830109
127Bell-shaped thorax (HP:0001591)2.15482395
128Craniofacial dystonia (HP:0012179)2.15019030
129Hallux valgus (HP:0001822)2.13516418
130Mesomelia (HP:0003027)2.12955684
131Hemiplegia (HP:0002301)2.12209775
132Lower limb muscle weakness (HP:0007340)2.11676756
133Congenital glaucoma (HP:0001087)2.10859204
134Limb-girdle muscle weakness (HP:0003325)2.08728670
135Spastic gait (HP:0002064)2.08698506
136Nonimmune hydrops fetalis (HP:0001790)2.08307512
137Protruding ear (HP:0000411)2.08149013
138Abnormality of the corticospinal tract (HP:0002492)2.07849045
139Absent frontal sinuses (HP:0002688)2.07831963
140Deviation of the hallux (HP:0010051)2.07211740
141Delayed cranial suture closure (HP:0000270)2.07155715
142Aneurysm (HP:0002617)2.07084335
143Abnormality of skeletal muscle fiber size (HP:0012084)2.06484084
144Dysmetric saccades (HP:0000641)2.06001819
145Abnormality of skull ossification (HP:0002703)2.05197466
146Generalized amyotrophy (HP:0003700)2.04652793
147Gait imbalance (HP:0002141)2.03552207
148Spinal cord compression (HP:0002176)2.03240098
149EEG with generalized epileptiform discharges (HP:0011198)2.02050265
150Cerebral aneurysm (HP:0004944)2.01962418
151Annular pancreas (HP:0001734)2.01910241
152Incomplete penetrance (HP:0003829)2.01222099
153Impaired smooth pursuit (HP:0007772)2.00148833
154Absent speech (HP:0001344)1.99363025
155Insidious onset (HP:0003587)1.98102633
156Termporal pattern (HP:0011008)1.98102633
157Impaired vibratory sensation (HP:0002495)1.97562522
158Scanning speech (HP:0002168)1.95293675
159Intention tremor (HP:0002080)1.94035335
160Hypsarrhythmia (HP:0002521)1.92707203
161Abnormal respiratory motile cilium morphology (HP:0005938)1.92077712
162Abnormal respiratory epithelium morphology (HP:0012253)1.92077712
163Natal tooth (HP:0000695)1.91688497
164Bradykinesia (HP:0002067)1.91120202
165Specific learning disability (HP:0001328)1.90554477
166Morphological abnormality of the middle ear (HP:0008609)1.89599969
167Increased connective tissue (HP:0009025)1.86193149
168Hypoplasia of the odontoid process (HP:0003311)1.84720041
169Abnormality of salivation (HP:0100755)1.83735481
170Syringomyelia (HP:0003396)1.83465226
171Spinal cord lesions (HP:0100561)1.83465226
172Femoral bowing (HP:0002980)1.82152866
173Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.81949912
174Renal duplication (HP:0000075)1.80778328
175Inability to walk (HP:0002540)1.80632217
176Inguinal hernia (HP:0000023)1.80214676
177Coxa vara (HP:0002812)1.80130056
178Degeneration of the lateral corticospinal tracts (HP:0002314)1.80096427
179Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)1.80096427
180Broad long bones (HP:0005622)1.79533715
181Blue irides (HP:0000635)1.79361454
182Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.79160271
183Decreased skull ossification (HP:0004331)1.78872480
184Narrow palate (HP:0000189)1.77602813
185Mucopolysacchariduria (HP:0008155)1.77453583
186Urinary glycosaminoglycan excretion (HP:0003541)1.77453583
187Abnormality of carpal bone ossification (HP:0006257)1.76764847
188Camptodactyly of toe (HP:0001836)1.76696074
189Ectopia lentis (HP:0001083)1.76375321
190Protruding tongue (HP:0010808)1.75169051
191Resting tremor (HP:0002322)1.72284722
192Hypoventilation (HP:0002791)1.71908582
193Generalized myoclonic seizures (HP:0002123)1.68990576
194Thickened helices (HP:0000391)1.68488414
195Medial flaring of the eyebrow (HP:0010747)1.68252617
196Retinal dysplasia (HP:0007973)1.68127858
197Status epilepticus (HP:0002133)1.67077413
198Abnormality of ocular smooth pursuit (HP:0000617)1.66065349

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA45.51511842
2DDR24.70817480
3NEK94.61578118
4PDGFRA4.52016959
5NTRK33.89339230
6CASK3.75575860
7MYLK3.73528575
8LIMK13.71556335
9TESK13.69751072
10MARK12.91965976
11MAP3K92.84804711
12PAK22.78979488
13MAP3K42.60334650
14DAPK22.60140589
15MAP2K72.43175929
16TRIB32.42462613
17MINK12.24770520
18NTRK22.19902822
19LATS12.19566130
20PTK22.14147219
21SCYL22.10239662
22PAK61.95773259
23RIPK41.80002325
24RIPK11.77813040
25PAK41.77628617
26PDGFRB1.74133118
27MAP3K121.69759016
28PRKD31.68155911
29TTN1.56526155
30NTRK11.54786950
31CAMKK11.54387230
32MAPK131.54209469
33SIK11.53511041
34TNIK1.52200583
35TGFBR21.51776997
36MAP2K41.51130774
37CDK51.50033766
38KSR21.48337657
39KSR11.43529728
40DAPK11.43438192
41PLK21.42974590
42PHKG21.40564743
43PHKG11.40564743
44AKT31.37297494
45EPHB21.36002001
46PRPF4B1.34691735
47CDK191.33087098
48SIK21.31287829
49MAPKAPK31.22354857
50FES1.22134844
51PNCK1.21146902
52TAOK11.19119916
53CAMKK21.18100758
54ILK1.15422014
55PRKCG1.15085724
56MOS1.13237598
57CAMK2A1.12162479
58PKN21.11896305
59SGK2231.11275937
60SGK4941.11275937
61BMPR21.10320817
62KIT1.08820756
63GRK51.08579285
64ARAF1.08202609
65MET1.07982744
66MAPK71.07530832
67TYRO31.05766082
68MAP3K21.02187501
69MAP3K130.98882521
70SGK20.98796824
71CAMK2B0.96262349
72ABL20.94806278
73UHMK10.92993791
74OXSR10.92435159
75LMTK20.91018061
76CDK180.87364607
77CDK150.84403414
78MUSK0.83787888
79STK380.83075783
80MTOR0.82971245
81CAMK10.82557283
82CDK140.80273363
83PRKG20.80152568
84PTK2B0.79488297
85MAP3K60.79139957
86STK110.78746470
87PIK3CG0.77848005
88SGK10.75940913
89PRKCE0.75626274
90STK38L0.75606054
91ADRBK10.74993269
92DYRK1A0.74869713
93PAK30.74258846
94PRKCH0.73755434
95CDK11A0.72235433
96NEK60.71676675
97ICK0.69356574
98SGK30.69020686
99MARK20.68805052
100ERBB30.68720404
101STK30.66956585
102CSNK1G20.66246394
103LATS20.65425242
104FER0.63597711
105ERN10.63476256
106RPS6KA20.63138732
107MELK0.63092181
108FGR0.60913804
109PINK10.57399628
110MAP2K10.56668736
111CAMK2G0.56563196
112WNK10.54357435
113PIK3CA0.53999009
114DMPK0.53899566
115ROCK20.52878854
116PRKD10.52658375
117EIF2AK10.52130598
118MAP3K30.51965316
119RAF10.51916836
120PRKCZ0.51656544
121PKN10.50935321
122SIK30.50303603
123PDPK10.49372958
124CAMK2D0.48168477
125JAK10.47828845
126TRPM70.47218276
127BCR0.46971972
128RET0.46725715
129PRKD20.46535829
130FLT30.46255140
131GSK3A0.44335200
132FYN0.44069513
133ROCK10.43896362
134CAMK40.43657788
135CAMK1G0.42913582
136RPS6KA30.42662863
137MAP3K10.41932108
138MAPK120.41407767
139ERBB40.40687702
140PDK10.39707787
141EPHB10.39568847
142ALK0.39550785
143CDC42BPA0.38772863
144WNK30.38740301
145CDK70.38478231
146ADRBK20.38291702
147FGFR20.37216000
148MAPK100.37064721
149DAPK30.36337656
150NME10.35993817
151NEK20.34149979
152TAOK20.34125206
153BRSK10.33155516
154EPHA20.30629430
155PAK10.29920221
156SRC0.25934729
157PRKG10.24562876
158MAPKAPK20.24058673
159BRSK20.23943385
160PRKCD0.23038253
161INSR0.22330627
162ABL10.21785191
163AURKB0.21434223
164FGFR40.20252735
165PIM20.19963371
166CAMK1D0.18121366

Predicted pathways (KEGG)

RankGene SetZ-score
1ECM-receptor interaction_Homo sapiens_hsa045124.18299054
2Nicotine addiction_Homo sapiens_hsa050333.59523688
3Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005323.46707498
4Focal adhesion_Homo sapiens_hsa045103.04346200
5Olfactory transduction_Homo sapiens_hsa047402.95228316
6Synaptic vesicle cycle_Homo sapiens_hsa047212.86781179
7Glycosaminoglycan degradation_Homo sapiens_hsa005312.66581992
8Circadian entrainment_Homo sapiens_hsa047132.64451082
9GABAergic synapse_Homo sapiens_hsa047272.62247364
10Morphine addiction_Homo sapiens_hsa050322.60785463
11Retrograde endocannabinoid signaling_Homo sapiens_hsa047232.58015337
12Amphetamine addiction_Homo sapiens_hsa050312.57678721
13Glutamatergic synapse_Homo sapiens_hsa047242.56028665
14Long-term potentiation_Homo sapiens_hsa047202.44112737
15Dopaminergic synapse_Homo sapiens_hsa047282.20935502
16Salivary secretion_Homo sapiens_hsa049702.20507367
17Protein digestion and absorption_Homo sapiens_hsa049742.05478101
18Cocaine addiction_Homo sapiens_hsa050302.05300874
19Proteoglycans in cancer_Homo sapiens_hsa052052.03756780
20Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.99166900
21Renin secretion_Homo sapiens_hsa049241.94629346
22* Gastric acid secretion_Homo sapiens_hsa049711.91731591
23Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.88855148
24Insulin secretion_Homo sapiens_hsa049111.88317706
25Cholinergic synapse_Homo sapiens_hsa047251.86241460
26Taste transduction_Homo sapiens_hsa047421.84052460
27Aldosterone synthesis and secretion_Homo sapiens_hsa049251.78428469
28Serotonergic synapse_Homo sapiens_hsa047261.75734704
29Oxytocin signaling pathway_Homo sapiens_hsa049211.66211455
30Long-term depression_Homo sapiens_hsa047301.64838121
31AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.64597423
32Calcium signaling pathway_Homo sapiens_hsa040201.63584235
33PI3K-Akt signaling pathway_Homo sapiens_hsa041511.62598657
34Amoebiasis_Homo sapiens_hsa051461.61720826
35Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.59514470
36Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.55433923
37Collecting duct acid secretion_Homo sapiens_hsa049661.51861461
38Gap junction_Homo sapiens_hsa045401.45907541
39GnRH signaling pathway_Homo sapiens_hsa049121.37945694
40Axon guidance_Homo sapiens_hsa043601.37944635
41Bladder cancer_Homo sapiens_hsa052191.36129154
42Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.34709866
43cAMP signaling pathway_Homo sapiens_hsa040241.33639258
44TGF-beta signaling pathway_Homo sapiens_hsa043501.33176876
45Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.26679415
46Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.22476607
47Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.21800027
48MicroRNAs in cancer_Homo sapiens_hsa052061.21259925
49Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.19580409
50Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.18385274
51Melanogenesis_Homo sapiens_hsa049161.17296683
52N-Glycan biosynthesis_Homo sapiens_hsa005101.16477947
53Adherens junction_Homo sapiens_hsa045201.13179225
54Small cell lung cancer_Homo sapiens_hsa052221.04808424
55cGMP-PKG signaling pathway_Homo sapiens_hsa040221.03863505
56Estrogen signaling pathway_Homo sapiens_hsa049151.03444164
57Central carbon metabolism in cancer_Homo sapiens_hsa052301.01561939
58Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.01118688
59Basal cell carcinoma_Homo sapiens_hsa052171.00133767
60Phototransduction_Homo sapiens_hsa047440.99266794
61Pathways in cancer_Homo sapiens_hsa052000.98447091
62Cardiac muscle contraction_Homo sapiens_hsa042600.97594352
63Vascular smooth muscle contraction_Homo sapiens_hsa042700.97447566
64Sphingolipid metabolism_Homo sapiens_hsa006000.96062734
65Glioma_Homo sapiens_hsa052140.94964884
66ErbB signaling pathway_Homo sapiens_hsa040120.93927502
67Lysosome_Homo sapiens_hsa041420.93058880
68Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.92954545
69Vibrio cholerae infection_Homo sapiens_hsa051100.92026350
70Dilated cardiomyopathy_Homo sapiens_hsa054140.91866816
71Prostate cancer_Homo sapiens_hsa052150.91057925
72Other glycan degradation_Homo sapiens_hsa005110.89316808
73Nitrogen metabolism_Homo sapiens_hsa009100.85638506
74Type II diabetes mellitus_Homo sapiens_hsa049300.84389651
75Phosphatidylinositol signaling system_Homo sapiens_hsa040700.84153745
76Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.83837874
77Leukocyte transendothelial migration_Homo sapiens_hsa046700.81775269
78Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.80840685
79Prolactin signaling pathway_Homo sapiens_hsa049170.79981402
80Tight junction_Homo sapiens_hsa045300.79286307
81Phospholipase D signaling pathway_Homo sapiens_hsa040720.78599030
82Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.78120527
83Pancreatic secretion_Homo sapiens_hsa049720.77869722
84Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.76371126
85Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.76298729
86Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.74775048
87MAPK signaling pathway_Homo sapiens_hsa040100.74435368
88Dorso-ventral axis formation_Homo sapiens_hsa043200.73551954
89Vitamin B6 metabolism_Homo sapiens_hsa007500.71788764
90Thyroid hormone synthesis_Homo sapiens_hsa049180.70932999
91Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.69503077
92mTOR signaling pathway_Homo sapiens_hsa041500.69130161
93Shigellosis_Homo sapiens_hsa051310.69103930
94Platelet activation_Homo sapiens_hsa046110.68309086
95Rap1 signaling pathway_Homo sapiens_hsa040150.67464778
96Chronic myeloid leukemia_Homo sapiens_hsa052200.65276692
97p53 signaling pathway_Homo sapiens_hsa041150.64550454
98Ras signaling pathway_Homo sapiens_hsa040140.64211121
99Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.63444743
100Wnt signaling pathway_Homo sapiens_hsa043100.63443044
101Choline metabolism in cancer_Homo sapiens_hsa052310.63074207
102Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.60624976
103Oocyte meiosis_Homo sapiens_hsa041140.58999228
104Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.58966726
105Pancreatic cancer_Homo sapiens_hsa052120.57566646
106Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.57469663
107AMPK signaling pathway_Homo sapiens_hsa041520.54722164
108Malaria_Homo sapiens_hsa051440.54560872
109Thyroid cancer_Homo sapiens_hsa052160.53866517
110Ovarian steroidogenesis_Homo sapiens_hsa049130.52531046
111Alcoholism_Homo sapiens_hsa050340.52274951
112Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.51943255
113Sphingolipid signaling pathway_Homo sapiens_hsa040710.51811123
114Glucagon signaling pathway_Homo sapiens_hsa049220.49218117
115Phagosome_Homo sapiens_hsa041450.49200285
116Renin-angiotensin system_Homo sapiens_hsa046140.49130559
117Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.48341956
118Circadian rhythm_Homo sapiens_hsa047100.47233248
119Sulfur metabolism_Homo sapiens_hsa009200.46174279
120Neurotrophin signaling pathway_Homo sapiens_hsa047220.45338543
121Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.44784816
122Alzheimers disease_Homo sapiens_hsa050100.44781542
123Prion diseases_Homo sapiens_hsa050200.44348916
124Thyroid hormone signaling pathway_Homo sapiens_hsa049190.44016464
125Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.42629996
126VEGF signaling pathway_Homo sapiens_hsa043700.41684023
127African trypanosomiasis_Homo sapiens_hsa051430.41683994
128Hepatitis B_Homo sapiens_hsa051610.38974200
129Fatty acid biosynthesis_Homo sapiens_hsa000610.38961304
130Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.37822174
131Bile secretion_Homo sapiens_hsa049760.37765660
132Type I diabetes mellitus_Homo sapiens_hsa049400.37625524
133Hedgehog signaling pathway_Homo sapiens_hsa043400.37598439
134SNARE interactions in vesicular transport_Homo sapiens_hsa041300.37015737
135Rheumatoid arthritis_Homo sapiens_hsa053230.36163659
136Carbohydrate digestion and absorption_Homo sapiens_hsa049730.35594345
137Mineral absorption_Homo sapiens_hsa049780.35331060
138Renal cell carcinoma_Homo sapiens_hsa052110.35159727
139Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.34601376
140Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.33709922
141Non-small cell lung cancer_Homo sapiens_hsa052230.33285551
142Endocytosis_Homo sapiens_hsa041440.32667844
143Melanoma_Homo sapiens_hsa052180.31124250
144Endometrial cancer_Homo sapiens_hsa052130.30277904
145Chemokine signaling pathway_Homo sapiens_hsa040620.28958975
146Regulation of actin cytoskeleton_Homo sapiens_hsa048100.28468282
147Hippo signaling pathway_Homo sapiens_hsa043900.28140715
148Longevity regulating pathway - mammal_Homo sapiens_hsa042110.27503141
149Insulin signaling pathway_Homo sapiens_hsa049100.27286524

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