GJC3

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





Description: This gene encodes a gap junction protein. The encoded protein, also known as a connexin, plays a role in formation of gap junctions, which provide direct connections between neighboring cells. Mutations in this gene have been reported to be associated with nonsyndromic hearing loss. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1fatty acid elongation (GO:0030497)6.87258511
2* axon ensheathment (GO:0008366)6.79459200
3* ensheathment of neurons (GO:0007272)6.79459200
4* myelination (GO:0042552)6.68571378
5long-chain fatty acid biosynthetic process (GO:0042759)5.86357091
6regulation of oxidative phosphorylation (GO:0002082)5.69355037
7L-amino acid import (GO:0043092)5.42147189
8mitochondrial electron transport, NADH to ubiquinone (GO:0006120)4.98033273
9regulation of mitochondrial translation (GO:0070129)4.89712108
10negative regulation of neurotransmitter secretion (GO:0046929)4.85084115
11myelin maintenance (GO:0043217)4.84770770
12amino acid import (GO:0043090)4.72658540
13negative regulation of neurotransmitter transport (GO:0051589)4.58351390
14mitochondrial ATP synthesis coupled proton transport (GO:0042776)4.57603979
15tyrosine metabolic process (GO:0006570)4.55264991
16oligodendrocyte differentiation (GO:0048709)4.52207994
17response to methylmercury (GO:0051597)4.48813904
18regulation of collateral sprouting (GO:0048670)4.46167929
19cholesterol biosynthetic process (GO:0006695)4.36283362
20peripheral nervous system axon ensheathment (GO:0032292)4.34250813
21myelination in peripheral nervous system (GO:0022011)4.34250813
22presynaptic membrane organization (GO:0097090)4.28868162
23negative regulation of protein localization to cell surface (GO:2000009)4.24635973
24neuron cell-cell adhesion (GO:0007158)4.21592967
25respiratory electron transport chain (GO:0022904)4.18747789
26L-serine metabolic process (GO:0006563)4.16236893
27glycerophospholipid catabolic process (GO:0046475)4.12705777
28presynaptic membrane assembly (GO:0097105)4.08941386
29electron transport chain (GO:0022900)4.08662064
30response to redox state (GO:0051775)4.07521525
31protein complex biogenesis (GO:0070271)4.07024887
32erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.03461017
33L-phenylalanine catabolic process (GO:0006559)4.03461017
34eye photoreceptor cell differentiation (GO:0001754)4.02887936
35photoreceptor cell differentiation (GO:0046530)4.02887936
36negative regulation of peptidyl-threonine phosphorylation (GO:0010801)4.02246436
37glutathione derivative metabolic process (GO:1901685)3.92369383
38glutathione derivative biosynthetic process (GO:1901687)3.92369383
39lactate metabolic process (GO:0006089)3.89978561
40activated T cell proliferation (GO:0050798)3.89437912
41positive regulation of oligodendrocyte differentiation (GO:0048714)3.88536907
42creatine metabolic process (GO:0006600)3.87743680
43establishment of mitochondrion localization (GO:0051654)3.83324070
44astrocyte development (GO:0014002)3.81290394
45sterol biosynthetic process (GO:0016126)3.79718117
46asymmetric protein localization (GO:0008105)3.79369254
47aldehyde catabolic process (GO:0046185)3.77832713
48substantia nigra development (GO:0021762)3.72470655
49import into cell (GO:0098657)3.71704335
50apical protein localization (GO:0045176)3.70408771
51erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)3.64913895
52L-phenylalanine metabolic process (GO:0006558)3.64913895
53mitochondrial respiratory chain complex assembly (GO:0033108)3.64437493
54energy coupled proton transport, down electrochemical gradient (GO:0015985)3.64416193
55ATP synthesis coupled proton transport (GO:0015986)3.64416193
56mannosylation (GO:0097502)3.60105129
57transcription elongation from RNA polymerase III promoter (GO:0006385)3.59541565
58termination of RNA polymerase III transcription (GO:0006386)3.59541565
59water-soluble vitamin biosynthetic process (GO:0042364)3.57458488
60peptidyl-tyrosine autophosphorylation (GO:0038083)3.51206297
61mitochondrial respiratory chain complex I assembly (GO:0032981)3.50106082
62NADH dehydrogenase complex assembly (GO:0010257)3.50106082
63mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.50106082
64DNA double-strand break processing (GO:0000729)3.49170101
65isoprenoid biosynthetic process (GO:0008299)3.46487268
66transmission of nerve impulse (GO:0019226)3.45868267
67chaperone-mediated protein transport (GO:0072321)3.45348614
68cellular response to oxygen radical (GO:0071450)3.42083136
69removal of superoxide radicals (GO:0019430)3.42083136
70cellular response to superoxide (GO:0071451)3.42083136
71ribosome assembly (GO:0042255)3.36359958
72long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)3.35168602
73neuronal action potential propagation (GO:0019227)3.33802099
74detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)3.30096290
75limb bud formation (GO:0060174)3.27373680
76regulation of mitotic cell cycle spindle assembly checkpoint (GO:0090266)3.26365339
77regulation of mitotic spindle checkpoint (GO:1903504)3.26365339
78cerebral cortex radially oriented cell migration (GO:0021799)3.26355522
79adult walking behavior (GO:0007628)3.25800851
80oligosaccharide biosynthetic process (GO:0009312)3.20431238
81gap junction assembly (GO:0016264)3.19016891
82cellular response to epinephrine stimulus (GO:0071872)3.18858583
83proteasome assembly (GO:0043248)3.18713018
84negative regulation of axonogenesis (GO:0050771)3.18091779
85protein palmitoylation (GO:0018345)3.16380360
86signal peptide processing (GO:0006465)3.15307641
87neuron remodeling (GO:0016322)3.14814331
88neuronal ion channel clustering (GO:0045161)3.12651813
89long-chain fatty-acyl-CoA metabolic process (GO:0035336)3.12590221
90positive regulation of neurological system process (GO:0031646)3.11228221
91negative regulation of axon extension (GO:0030517)3.10100181
92cytochrome complex assembly (GO:0017004)3.08984247
93intestinal cholesterol absorption (GO:0030299)3.08241377
94response to lipoprotein particle (GO:0055094)3.07715507
95cobalamin metabolic process (GO:0009235)3.04967347
96respiratory chain complex IV assembly (GO:0008535)3.03075628
97xenobiotic catabolic process (GO:0042178)3.02806646
98protein targeting to mitochondrion (GO:0006626)2.98827058
99negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)2.97513556
100peripheral nervous system development (GO:0007422)2.96607173
101regulation of triglyceride catabolic process (GO:0010896)2.94200022
102positive regulation of action potential (GO:0045760)2.91546381
103neurotransmitter uptake (GO:0001504)2.91329014
104amyloid precursor protein metabolic process (GO:0042982)2.90934422
105peptidyl-histidine modification (GO:0018202)2.90213599
106regulation of cellular amino acid metabolic process (GO:0006521)2.89182515
107virion attachment to host cell (GO:0019062)2.88241039
108adhesion of symbiont to host cell (GO:0044650)2.88241039
109establishment of protein localization to mitochondrial membrane (GO:0090151)2.88121611
110response to epinephrine (GO:0071871)2.85695245
111fatty-acyl-CoA biosynthetic process (GO:0046949)2.85482153
112copper ion transport (GO:0006825)2.84878295
113GPI anchor biosynthetic process (GO:0006506)2.84603892
114dopamine transport (GO:0015872)2.83792548
115negative regulation of ligase activity (GO:0051352)2.83437491
116negative regulation of ubiquitin-protein transferase activity (GO:0051444)2.83437491
117dolichol-linked oligosaccharide biosynthetic process (GO:0006488)2.82595405
118regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)2.81602408
119regulation of phospholipase A2 activity (GO:0032429)2.81319228
120cellular respiration (GO:0045333)2.80851172
121establishment of integrated proviral latency (GO:0075713)2.78423272
122regulation of lipoprotein metabolic process (GO:0050746)2.78073965
123peroxisome fission (GO:0016559)2.76725925
124magnesium ion transport (GO:0015693)2.76551271
125glial cell development (GO:0021782)2.76092543
126GPI anchor metabolic process (GO:0006505)2.75420879
127enteric nervous system development (GO:0048484)2.74921724
128membrane tubulation (GO:0097320)2.74636049
129locomotory exploration behavior (GO:0035641)2.73554557
130ribosomal small subunit assembly (GO:0000028)2.73086104
131triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.72613339
132protein localization to mitochondrion (GO:0070585)2.72326110
133oxidative phosphorylation (GO:0006119)2.71983535
134axon development (GO:0061564)2.71322529
135digestion (GO:0007586)2.70611005
136nucleoside transmembrane transport (GO:1901642)2.69358311
137L-alpha-amino acid transmembrane transport (GO:1902475)2.68612731
138fatty-acyl-CoA metabolic process (GO:0035337)2.68436644
139preassembly of GPI anchor in ER membrane (GO:0016254)2.68088483
140aromatic amino acid family catabolic process (GO:0009074)2.67932013
141response to oxygen radical (GO:0000305)2.66647929
142serine family amino acid biosynthetic process (GO:0009070)2.66635017
143aromatic amino acid family metabolic process (GO:0009072)2.66310701
144regulation of cilium movement (GO:0003352)2.65742777
145very long-chain fatty acid metabolic process (GO:0000038)2.64828923
146cellular response to catecholamine stimulus (GO:0071870)2.63559023
147cellular response to monoamine stimulus (GO:0071868)2.63559023
148nucleotide-excision repair, DNA gap filling (GO:0006297)2.63218789
149neuron recognition (GO:0008038)2.62842864
150positive regulation of glial cell differentiation (GO:0045687)2.62798087
151cranial nerve development (GO:0021545)2.62277931
152positive regulation of actin filament depolymerization (GO:0030836)2.61985743
153glycosylceramide metabolic process (GO:0006677)2.61664494
154establishment of protein localization to mitochondrion (GO:0072655)2.61593877
155positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)2.61219563
156negative regulation of execution phase of apoptosis (GO:1900118)2.60939369
157response to nitrosative stress (GO:0051409)2.59905402
158telomere maintenance via semi-conservative replication (GO:0032201)2.59569262
159response to superoxide (GO:0000303)2.59548731
160organ growth (GO:0035265)2.59015526
161C4-dicarboxylate transport (GO:0015740)2.57528901
162primary alcohol catabolic process (GO:0034310)2.57523067
163neural nucleus development (GO:0048857)2.56632651
164retinal rod cell development (GO:0046548)2.55753638
165positive regulation of gliogenesis (GO:0014015)2.54660143
166cerebellar granule cell differentiation (GO:0021707)2.54534490
167artery smooth muscle contraction (GO:0014824)2.54266238
168positive regulation of cellular amine metabolic process (GO:0033240)2.53332542
169regulation of cholesterol esterification (GO:0010872)2.53028553
170reverse cholesterol transport (GO:0043691)2.52589197
171glial cell differentiation (GO:0010001)2.51805590
172nucleotide transmembrane transport (GO:1901679)2.51508769
173uronic acid metabolic process (GO:0006063)2.50527448
174glucuronate metabolic process (GO:0019585)2.50527448
175exogenous drug catabolic process (GO:0042738)2.50315911
176DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.49379954
177leukocyte migration involved in inflammatory response (GO:0002523)2.49336185
178tryptophan metabolic process (GO:0006568)2.48410689
179signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.48241886
180signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.48241886
181signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.48241886
182response to hepatocyte growth factor (GO:0035728)2.48062602
183cellular response to hepatocyte growth factor stimulus (GO:0035729)2.48062602
184response to catecholamine (GO:0071869)2.47152738
185response to monoamine (GO:0071867)2.47152738
186anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.46290892
187drug catabolic process (GO:0042737)2.45702559
188amino-acid betaine metabolic process (GO:0006577)2.44811509
189signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.44805434
190intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.44805434
191regulation of somitogenesis (GO:0014807)2.44505187
192detection of temperature stimulus involved in sensory perception of pain (GO:0050965)2.44467706
193detection of temperature stimulus involved in sensory perception (GO:0050961)2.44467706
194spliceosomal snRNP assembly (GO:0000387)2.44218473
195negative regulation of synaptic transmission (GO:0050805)2.43131359
196negative regulation of JUN kinase activity (GO:0043508)2.42997357
197biotin metabolic process (GO:0006768)2.42970952
198hydrogen ion transmembrane transport (GO:1902600)2.41201359
199axon ensheathment in central nervous system (GO:0032291)11.1921648
200central nervous system myelination (GO:0022010)11.1921648

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human4.88961787
2EST1_17652178_ChIP-ChIP_JURKAT_Human3.70377367
3GABP_17652178_ChIP-ChIP_JURKAT_Human3.36928841
4GBX2_23144817_ChIP-Seq_PC3_Human3.35421435
5* HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human2.79061299
6E2F7_22180533_ChIP-Seq_HELA_Human2.71918248
7MYCN_21190229_ChIP-Seq_SHEP-21N_Human2.69290582
8SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.67499526
9CHD1_19587682_ChIP-ChIP_MESCs_Mouse2.65770148
10EZH2_22144423_ChIP-Seq_EOC_Human2.52225315
11SUZ12_18555785_ChIP-Seq_MESCs_Mouse2.45766870
12SUZ12_18692474_ChIP-Seq_MESCs_Mouse2.45357500
13ELK1_19687146_ChIP-ChIP_HELA_Human2.42432626
14CREB1_15753290_ChIP-ChIP_HEK293T_Human2.39176039
15JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.35828943
16MYC_18555785_ChIP-Seq_MESCs_Mouse2.35461948
17ETS1_20019798_ChIP-Seq_JURKAT_Human2.34912122
18ZNF274_21170338_ChIP-Seq_K562_Hela2.32207326
19TAF15_26573619_Chip-Seq_HEK293_Human2.31003699
20JARID2_20064375_ChIP-Seq_MESCs_Mouse2.30304947
21HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.16796970
22AR_21572438_ChIP-Seq_LNCaP_Human2.14557599
23SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.09897423
24RNF2_18974828_ChIP-Seq_MESCs_Mouse2.09542343
25EZH2_18974828_ChIP-Seq_MESCs_Mouse2.09542343
26EGR1_23403033_ChIP-Seq_LIVER_Mouse2.08911293
27OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse2.07695174
28IGF1R_20145208_ChIP-Seq_DFB_Human2.07128594
29E4F1_26484288_ChIP-Seq_MOUSE_EMBRYONIC_FIBROBLAST_Mouse2.05836046
30EZH2_27304074_Chip-Seq_ESCs_Mouse2.04897214
31MTF2_20144788_ChIP-Seq_MESCs_Mouse2.03336873
32SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.99279332
33SRF_21415370_ChIP-Seq_HL-1_Mouse1.99208748
34SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.97631720
35EED_16625203_ChIP-ChIP_MESCs_Mouse1.97587820
36ZFP57_27257070_Chip-Seq_ESCs_Mouse1.97152552
37E2F4_17652178_ChIP-ChIP_JURKAT_Human1.96234564
38SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.95306333
39VDR_23849224_ChIP-Seq_CD4+_Human1.93661761
40VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.92047929
41SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.90316992
42FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.89524964
43NOTCH1_17114293_ChIP-ChIP_T-ALL_Human1.87618548
44EZH2_27294783_Chip-Seq_ESCs_Mouse1.86298702
45FOXP3_21729870_ChIP-Seq_TREG_Human1.86044990
46SALL1_21062744_ChIP-ChIP_HESCs_Human1.85771934
47SUZ12_27294783_Chip-Seq_ESCs_Mouse1.81795847
48PADI4_21655091_ChIP-ChIP_MCF-7_Human1.80677349
49JARID2_20075857_ChIP-Seq_MESCs_Mouse1.78503548
50CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.77470421
51CDX2_19796622_ChIP-Seq_MESCs_Mouse1.74216943
52RNF2_27304074_Chip-Seq_ESCs_Mouse1.71370408
53DROSHA_22980978_ChIP-Seq_HELA_Human1.71083520
54PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.67211073
55ER_23166858_ChIP-Seq_MCF-7_Human1.64925792
56FLI1_27457419_Chip-Seq_LIVER_Mouse1.62202799
57DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.61289351
58CTBP1_25329375_ChIP-Seq_LNCAP_Human1.60644338
59MYC_19030024_ChIP-ChIP_MESCs_Mouse1.60244615
60RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.56776072
61POU3F2_20337985_ChIP-ChIP_501MEL_Human1.56021118
62SMAD3_21741376_ChIP-Seq_EPCs_Human1.55445751
63IRF1_19129219_ChIP-ChIP_H3396_Human1.54712399
64CBX2_27304074_Chip-Seq_ESCs_Mouse1.54448079
65CTBP2_25329375_ChIP-Seq_LNCAP_Human1.43831969
66GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.43111029
67MYC_18940864_ChIP-ChIP_HL60_Human1.43088071
68ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.42635816
69MYC_19079543_ChIP-ChIP_MESCs_Mouse1.42513040
70P300_19829295_ChIP-Seq_ESCs_Human1.42183547
71TAL1_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.40835283
72STAT3_24763339_ChIP-Seq_IMN-ESCs_Mouse1.39964989
73VDR_22108803_ChIP-Seq_LS180_Human1.39829332
74ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.38870157
75PIAS1_25552417_ChIP-Seq_VCAP_Human1.38676288
76PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.38302814
77WT1_19549856_ChIP-ChIP_CCG9911_Human1.35778081
78SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.33650043
79FUS_26573619_Chip-Seq_HEK293_Human1.28527926
80BMI1_23680149_ChIP-Seq_NPCS_Mouse1.27965804
81HOXB4_20404135_ChIP-ChIP_EML_Mouse1.27940377
82ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.27336884
83MYC_18358816_ChIP-ChIP_MESCs_Mouse1.27179453
84ESR1_20079471_ChIP-ChIP_T-47D_Human1.26239717
85E2F1_18555785_ChIP-Seq_MESCs_Mouse1.24654938
86POU5F1_16153702_ChIP-ChIP_HESCs_Human1.23694523
87FOXO3_22982991_ChIP-Seq_MACROPHAGES_Mouse1.22483020
88RCOR1_19997604_ChIP-ChIP_NEURONS_Mouse1.22374213
89NANOG_18555785_Chip-Seq_ESCs_Mouse1.21928790
90STAT3_23295773_ChIP-Seq_U87_Human1.21648605
91TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.21298851
92TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.21235395
93NANOG_19829295_ChIP-Seq_ESCs_Human1.21110063
94SOX2_19829295_ChIP-Seq_ESCs_Human1.21110063
95CMYC_18555785_Chip-Seq_ESCs_Mouse1.21095738
96GRHL2_25758223_ChIP-Seq_PLACENTA_Mouse1.20802112
97NFE2L2_20460467_ChIP-Seq_MEFs_Mouse1.20479002
98NRF2_20460467_ChIP-Seq_MEFs_Mouse1.20479002
99SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.20416672
100PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.20386674
101SMAD4_21799915_ChIP-Seq_A2780_Human1.20322970
102NFE2_27457419_Chip-Seq_LIVER_Mouse1.20320543
103TP53_16413492_ChIP-PET_HCT116_Human1.19459352
104REST_21632747_ChIP-Seq_MESCs_Mouse1.18794372
105AR_21909140_ChIP-Seq_LNCAP_Human1.18572600
106NANOG_16153702_ChIP-ChIP_HESCs_Human1.18501912
107SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.16766435
108SUZ12_18555785_Chip-Seq_ESCs_Mouse1.16349063
109AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.15735524
110CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.15703875
111HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse1.14976714
112THAP11_20581084_ChIP-Seq_MESCs_Mouse1.14475284
113FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.14419944
114KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.13880225
115EP300_21415370_ChIP-Seq_HL-1_Mouse1.13693955
116P300_18555785_Chip-Seq_ESCs_Mouse1.13531282
117TAL1_26923725_Chip-Seq_HPCs_Mouse1.12471725
118ASH2L_23239880_ChIP-Seq_MESCs_Mouse1.12437662
119TOP2B_26459242_ChIP-Seq_MCF-7_Human1.12334121
120YY1_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.12250926
121FOXA1_25329375_ChIP-Seq_VCAP_Human1.11770227
122FOXA1_27270436_Chip-Seq_PROSTATE_Human1.11770227
123EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.11696825
124TCF4_22108803_ChIP-Seq_LS180_Human1.11667181
125DCP1A_22483619_ChIP-Seq_HELA_Human1.11418235
126KLF5_20875108_ChIP-Seq_MESCs_Mouse1.11305129
127FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.10473135
128MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.10199260
129EWS_26573619_Chip-Seq_HEK293_Human1.10102799
130LMO2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.10010824
131CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.09283144
132CBP_20019798_ChIP-Seq_JUKART_Human1.09211819
133IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.09211819
134ELK1_22589737_ChIP-Seq_MCF10A_Human1.09084215
135ZNF217_24962896_ChIP-Seq_MCF-7_Human1.08865119
136TP53_22573176_ChIP-Seq_HFKS_Human1.07894184
137ELF5_23300383_ChIP-Seq_T47D_Human1.07243202
138TCF4_23295773_ChIP-Seq_U87_Human1.07217107
139* RARB_27405468_Chip-Seq_BRAIN_Mouse1.06545432
140PRDM14_20953172_ChIP-Seq_ESCs_Human1.06402533
141E2F1_21310950_ChIP-Seq_MCF-7_Human1.05347080
142PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.05333236
143GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.05083196
144KDM5A_27292631_Chip-Seq_BREAST_Human1.04592328
145LMO2_26923725_Chip-Seq_MACROPHAGESS_Mouse1.04446607
146BCAT_22108803_ChIP-Seq_LS180_Human1.04155973
147UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.03968752
148SOX2_18555785_ChIP-Seq_MESCs_Mouse1.03897130
149PCGF2_27294783_Chip-Seq_NPCs_Mouse1.03688139
150WT1_25993318_ChIP-Seq_PODOCYTE_Human1.03578639
151EZH2_27294783_Chip-Seq_NPCs_Mouse1.03525886
152HTT_18923047_ChIP-ChIP_STHdh_Human1.03106156
153ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.02901806
154P53_22387025_ChIP-Seq_ESCs_Mouse1.02684040
155TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.02659750
156AHR_22903824_ChIP-Seq_MCF-7_Human1.02610096
157TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.02575838
158FOXM1_26456572_ChIP-Seq_MCF-7_Human1.02422805
159P53_22127205_ChIP-Seq_FIBROBLAST_Human1.02372569
160E2F1_18555785_Chip-Seq_ESCs_Mouse1.02205251
161PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.01416119
162RNF2_27304074_Chip-Seq_NSC_Mouse1.00736993
163MYCN_18555785_ChIP-Seq_MESCs_Mouse1.00260738
164EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.00249954
165NELFA_20434984_ChIP-Seq_ESCs_Mouse1.00086852
166ARNT_22903824_ChIP-Seq_MCF-7_Human0.99858590
167PCGF2_27294783_Chip-Seq_ESCs_Mouse0.99545973
168NR3C1_21868756_ChIP-Seq_MCF10A_Human0.98277423
169MEIS1_26923725_Chip-Seq_HEMOGENIC-ENDOTHELIUM_Mouse0.98261559
170NCOR_22424771_ChIP-Seq_293T_Human0.97966443
171RUNX2_22187159_ChIP-Seq_PCA_Human0.97882602
172SUZ12_27294783_Chip-Seq_NPCs_Mouse0.96910712
173HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.96804996
174FOXO1_23066095_ChIP-Seq_LIVER_Mouse0.96053644
175EOMES_21245162_ChIP-Seq_HESCs_Human0.95976221
176RUNX1_27457419_Chip-Seq_LIVER_Mouse0.95863603
177PRDM5_23873026_ChIP-Seq_MEFs_Mouse0.95851560
178STAT3_18555785_Chip-Seq_ESCs_Mouse0.94817430
179CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human0.94242747

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1* MP0000920_abnormal_myelination5.21021031
2MP0003806_abnormal_nucleotide_metabolis4.84215511
3MP0009697_abnormal_copulation3.94752339
4MP0003880_abnormal_central_pattern3.73167619
5MP0003136_yellow_coat_color3.60793018
6MP0003941_abnormal_skin_development3.39432374
7MP0003690_abnormal_glial_cell3.17215334
8MP0008995_early_reproductive_senescence3.12740597
9MP0005171_absent_coat_pigmentation3.04127897
10MP0004742_abnormal_vestibular_system2.98776594
11MP0004270_analgesia2.87789465
12MP0003950_abnormal_plasma_membrane2.75906084
13MP0002272_abnormal_nervous_system2.66349444
14MP0001529_abnormal_vocalization2.65298807
15MP0001486_abnormal_startle_reflex2.62170711
16MP0004885_abnormal_endolymph2.59348103
17MP0003634_abnormal_glial_cell2.42514448
18MP0002837_dystrophic_cardiac_calcinosis2.40991767
19MP0005409_darkened_coat_color2.38475324
20MP0008875_abnormal_xenobiotic_pharmacok2.35241423
21MP0003718_maternal_effect2.34719029
22MP0003868_abnormal_feces_composition2.34243507
23MP0003329_amyloid_beta_deposits2.32952084
24MP0001485_abnormal_pinna_reflex2.31389010
25MP0002064_seizures2.28838807
26MP0004142_abnormal_muscle_tone2.25076905
27MP0000778_abnormal_nervous_system2.23059562
28MP0002254_reproductive_system_inflammat2.21770783
29MP0001905_abnormal_dopamine_level2.20345530
30MP0001666_abnormal_nutrient_absorption2.13163352
31MP0004859_abnormal_synaptic_plasticity2.11259562
32MP0005365_abnormal_bile_salt2.07740256
33MP0003786_premature_aging2.05238159
34MP0000462_abnormal_digestive_system2.01295283
35MP0005423_abnormal_somatic_nervous2.00114058
36MP0004381_abnormal_hair_follicle1.98955010
37MP0003186_abnormal_redox_activity1.98677455
38MP0009046_muscle_twitch1.96940275
39MP0003632_abnormal_nervous_system1.86778516
40MP0009745_abnormal_behavioral_response1.85305684
41MP0003011_delayed_dark_adaptation1.84865714
42MP0003635_abnormal_synaptic_transmissio1.83995102
43MP0004134_abnormal_chest_morphology1.80973447
44MP0008872_abnormal_physiological_respon1.80472526
45MP0002734_abnormal_mechanical_nocicepti1.76237100
46MP0002229_neurodegeneration1.73051448
47MP0005410_abnormal_fertilization1.68881407
48MP0008877_abnormal_DNA_methylation1.66645546
49MP0009379_abnormal_foot_pigmentation1.60754866
50MP0006036_abnormal_mitochondrial_physio1.57867744
51MP0008058_abnormal_DNA_repair1.57762037
52MP0001440_abnormal_grooming_behavior1.55105060
53MP0004145_abnormal_muscle_electrophysio1.53357969
54MP0008260_abnormal_autophagy1.52196769
55MP0010678_abnormal_skin_adnexa1.51667156
56MP0000371_diluted_coat_color1.51238932
57MP0002572_abnormal_emotion/affect_behav1.49141780
58MP0010386_abnormal_urinary_bladder1.47750416
59MP0005551_abnormal_eye_electrophysiolog1.46973447
60MP0000383_abnormal_hair_follicle1.46865990
61MP0008569_lethality_at_weaning1.46284034
62MP0000955_abnormal_spinal_cord1.46249103
63MP0005623_abnormal_meninges_morphology1.44671383
64MP0002067_abnormal_sensory_capabilities1.42396042
65MP0001661_extended_life_span1.42063089
66MP0010329_abnormal_lipoprotein_level1.41563861
67MP0002882_abnormal_neuron_morphology1.41535768
68MP0000613_abnormal_salivary_gland1.38578247
69MP0003631_nervous_system_phenotype1.35874421
70MP0001984_abnormal_olfaction1.35518315
71MP0008007_abnormal_cellular_replicative1.33365850
72MP0002063_abnormal_learning/memory/cond1.32984821
73MP0005379_endocrine/exocrine_gland_phen1.32930426
74MP0005332_abnormal_amino_acid1.29187341
75MP0009840_abnormal_foam_cell1.28093096
76MP0001970_abnormal_pain_threshold1.27172239
77MP0002139_abnormal_hepatobiliary_system1.26484781
78MP0002752_abnormal_somatic_nervous1.25573800
79MP0003567_abnormal_fetal_cardiomyocyte1.24394486
80MP0002066_abnormal_motor_capabilities/c1.24102345
81* MP0001963_abnormal_hearing_physiology1.23663139
82MP0001919_abnormal_reproductive_system1.23013260
83MP0003123_paternal_imprinting1.21092846
84MP0004233_abnormal_muscle_weight1.21031376
85MP0005636_abnormal_mineral_homeostasis1.19672856
86MP0005075_abnormal_melanosome_morpholog1.19499349
87MP0001968_abnormal_touch/_nociception1.19443095
88MP0005451_abnormal_body_composition1.18465264
89MP0001299_abnormal_eye_distance/1.18286579
90MP0001881_abnormal_mammary_gland1.13407732
91MP0004043_abnormal_pH_regulation1.12367509
92MP0003633_abnormal_nervous_system1.12321059
93MP0006035_abnormal_mitochondrial_morpho1.12287191
94MP0001873_stomach_inflammation1.12233628
95MP0000604_amyloidosis1.11705794
96MP0003137_abnormal_impulse_conducting1.10987154
97MP0001929_abnormal_gametogenesis1.10060568
98MP0002733_abnormal_thermal_nociception1.08724040
99MP0004019_abnormal_vitamin_homeostasis1.08722513
100MP0000566_synostosis1.07444366
101MP0003693_abnormal_embryo_hatching1.07389972
102MP0004924_abnormal_behavior1.07070826
103MP0005386_behavior/neurological_phenoty1.07070826
104MP0000747_muscle_weakness1.05573504
105MP0003638_abnormal_response/metabolism_1.05144018
106MP0002108_abnormal_muscle_morphology1.04087880
107MP0003938_abnormal_ear_development1.04024459
108MP0004147_increased_porphyrin_level1.03719762
109MP0005195_abnormal_posterior_eye1.03092809
110MP0010094_abnormal_chromosome_stability1.01084740
111MP0001764_abnormal_homeostasis1.00390076
112MP0001177_atelectasis0.99540940
113MP0000762_abnormal_tongue_morphology0.96237695
114MP0003937_abnormal_limbs/digits/tail_de0.94600178
115MP0004957_abnormal_blastocyst_morpholog0.94282613
116MP0002735_abnormal_chemical_nociception0.93514351
117MP0002184_abnormal_innervation0.93088084
118MP0000647_abnormal_sebaceous_gland0.91472306
119MP0000026_abnormal_inner_ear0.90783605
120MP0003121_genomic_imprinting0.90597223
121MP0002557_abnormal_social/conspecific_i0.89532337
122MP0000467_abnormal_esophagus_morphology0.89311384
123MP0005085_abnormal_gallbladder_physiolo0.88243377
124MP0001346_abnormal_lacrimal_gland0.88187743
125MP0001145_abnormal_male_reproductive0.87557915
126MP0000653_abnormal_sex_gland0.86208920
127MP0009780_abnormal_chondrocyte_physiolo0.85717384
128MP0001324_abnormal_eye_pigmentation0.85472694
129MP0003172_abnormal_lysosome_physiology0.85269191
130MP0001986_abnormal_taste_sensitivity0.84917986
131MP0008961_abnormal_basal_metabolism0.84159130
132MP0002152_abnormal_brain_morphology0.83899124
133MP0002210_abnormal_sex_determination0.82362940
134MP0005395_other_phenotype0.82133006
135MP0002090_abnormal_vision0.81303822
136MP0005646_abnormal_pituitary_gland0.80990832
137MP0003698_abnormal_male_reproductive0.80108422
138MP0001188_hyperpigmentation0.79651247
139MP0003195_calcinosis0.79295411
140MP0001851_eye_inflammation0.78987509
141MP0000631_abnormal_neuroendocrine_gland0.78981818
142MP0009672_abnormal_birth_weight0.78615204
143MP0002282_abnormal_trachea_morphology0.78318525
144MP0002938_white_spotting0.77647501
145MP0005408_hypopigmentation0.77396635
146MP0001756_abnormal_urination0.76621060
147MP0002736_abnormal_nociception_after0.76198540
148MP0005253_abnormal_eye_physiology0.75561918
149MP0004272_abnormal_basement_membrane0.72513006
150MP0001348_abnormal_lacrimal_gland0.71144383
151MP0004185_abnormal_adipocyte_glucose0.70278396
152MP0005503_abnormal_tendon_morphology0.69358275
153MP0008438_abnormal_cutaneous_collagen0.69304604
154MP0004215_abnormal_myocardial_fiber0.68782163
155MP0001501_abnormal_sleep_pattern0.68380564
156MP0001502_abnormal_circadian_rhythm0.68375037
157MP0003890_abnormal_embryonic-extraembry0.66425036
158MP0001186_pigmentation_phenotype0.65253983
159MP0002295_abnormal_pulmonary_circulatio0.64786713
160MP0002822_catalepsy0.64523851
161MP0005645_abnormal_hypothalamus_physiol0.64021356
162MP0009250_abnormal_appendicular_skeleto0.64020733
163MP0005389_reproductive_system_phenotype0.62914870
164MP0002277_abnormal_respiratory_mucosa0.62087601
165MP0003111_abnormal_nucleus_morphology0.61683384
166MP0000372_irregular_coat_pigmentation0.59939262
167MP0009643_abnormal_urine_homeostasis0.59873543
168MP0000579_abnormal_nail_morphology0.57815461
169MP0002118_abnormal_lipid_homeostasis0.57392479
170MP0006072_abnormal_retinal_apoptosis0.57319192
171MP0002098_abnormal_vibrissa_morphology0.56775978

Predicted human phenotypes

RankGene SetZ-score
1Degeneration of the lateral corticospinal tracts (HP:0002314)6.53260694
2Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)6.53260694
3Neurofibrillary tangles (HP:0002185)5.87952488
4Peripheral hypomyelination (HP:0007182)5.51593778
5Abnormality of the corticospinal tract (HP:0002492)4.88706308
6Parakeratosis (HP:0001036)4.44183071
7Onion bulb formation (HP:0003383)4.37729002
8Termporal pattern (HP:0011008)4.34649828
9Insidious onset (HP:0003587)4.34649828
10Congenital, generalized hypertrichosis (HP:0004540)4.29290949
11Sensory axonal neuropathy (HP:0003390)4.24927452
12Acute necrotizing encephalopathy (HP:0006965)4.19030268
13Acute encephalopathy (HP:0006846)4.09906470
14Hypothermia (HP:0002045)4.08537640
15Cerebral inclusion bodies (HP:0100314)4.06483577
16Segmental peripheral demyelination/remyelination (HP:0003481)3.94494210
17Increased hepatocellular lipid droplets (HP:0006565)3.83495494
18Mitochondrial inheritance (HP:0001427)3.80227581
19Abnormal mitochondria in muscle tissue (HP:0008316)3.69283705
20Abnormal auditory evoked potentials (HP:0006958)3.68375988
21Spastic gait (HP:0002064)3.45180246
22Cerebral hypomyelination (HP:0006808)3.44826522
23Hepatocellular necrosis (HP:0001404)3.44557627
24Supranuclear gaze palsy (HP:0000605)3.39684847
25Lipid accumulation in hepatocytes (HP:0006561)3.38405658
26Progressive macrocephaly (HP:0004481)3.36312346
27Alacrima (HP:0000522)3.35838591
28Spontaneous abortion (HP:0005268)3.27923238
29Aplasia/Hypoplasia involving the musculature (HP:0001460)3.23835934
30Rectovaginal fistula (HP:0000143)3.22957365
31Rectal fistula (HP:0100590)3.22957365
32Septate vagina (HP:0001153)3.21041058
33Increased CSF lactate (HP:0002490)3.20350815
34Intention tremor (HP:0002080)3.19889976
35Dysmetria (HP:0001310)3.11248996
36Congenital nonbullous ichthyosiform erythroderma (HP:0007479)3.07472561
37Premature skin wrinkling (HP:0100678)3.04941536
38Ulnar claw (HP:0001178)3.03669341
39Scanning speech (HP:0002168)2.97384648
40Ankle clonus (HP:0011448)2.91446813
41Action tremor (HP:0002345)2.88495391
42Vaginal fistula (HP:0004320)2.86559533
43Myokymia (HP:0002411)2.85610041
44Hypoglycemic seizures (HP:0002173)2.84532726
45Retinal dysplasia (HP:0007973)2.81763651
46Abnormality of methionine metabolism (HP:0010901)2.79807092
47Hepatic necrosis (HP:0002605)2.77352288
48Hypoplastic pelvis (HP:0008839)2.76649572
49Amniotic constriction ring (HP:0009775)2.76150179
50Abnormality of placental membranes (HP:0011409)2.76150179
51Cerebral edema (HP:0002181)2.74297906
52Decreased lacrimation (HP:0000633)2.74052973
53White forelock (HP:0002211)2.73537360
54Abnormality of renal resorption (HP:0011038)2.73489239
55Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)2.73121923
56Leukodystrophy (HP:0002415)2.72403128
57Ependymoma (HP:0002888)2.71126871
58Hypoproteinemia (HP:0003075)2.69942703
59Methylmalonic acidemia (HP:0002912)2.68043409
60Abnormality of glycolysis (HP:0004366)2.67267122
61Increased serum pyruvate (HP:0003542)2.67267122
62Patchy hypopigmentation of hair (HP:0011365)2.61625345
63Intestinal fistula (HP:0100819)2.58550337
64Hypomagnesemia (HP:0002917)2.58032279
65Absent septum pellucidum (HP:0001331)2.57737738
66Hyperglycinuria (HP:0003108)2.56634011
67Megaloblastic anemia (HP:0001889)2.55533494
68Morphological abnormality of the inner ear (HP:0011390)2.54882317
69Clumsiness (HP:0002312)2.49360969
703-Methylglutaconic aciduria (HP:0003535)2.48653164
71Adrenal hypoplasia (HP:0000835)2.44838571
72Aplasia of the musculature (HP:0100854)2.43525246
73Slow saccadic eye movements (HP:0000514)2.40963397
74Foot dorsiflexor weakness (HP:0009027)2.40354174
75Anteriorly placed anus (HP:0001545)2.40308157
76Akinesia (HP:0002304)2.39870022
77Increased circulating renin level (HP:0000848)2.37229812
78Hypoplasia of the iris (HP:0007676)2.36724326
79Stridor (HP:0010307)2.35636624
80Multiple enchondromatosis (HP:0005701)2.35234437
81Thickened helices (HP:0000391)2.34256313
82Intestinal atresia (HP:0011100)2.33804776
83Decreased motor nerve conduction velocity (HP:0003431)2.32851396
84Abnormality of aspartate family amino acid metabolism (HP:0010899)2.32598165
85Steppage gait (HP:0003376)2.30977046
86Hyperlipoproteinemia (HP:0010980)2.28404478
87Colon cancer (HP:0003003)2.27849969
88Septo-optic dysplasia (HP:0100842)2.25449754
89Absent rod-and cone-mediated responses on ERG (HP:0007688)2.25052396
90Increased intramyocellular lipid droplets (HP:0012240)2.24759329
91Abnormality of glycine metabolism (HP:0010895)2.24656017
92Abnormality of serine family amino acid metabolism (HP:0010894)2.24656017
93Type I transferrin isoform profile (HP:0003642)2.23879781
94Abnormality of aromatic amino acid family metabolism (HP:0004338)2.21578629
95Tubulointerstitial nephritis (HP:0001970)2.21548715
96Split foot (HP:0001839)2.20048875
97Clitoromegaly (HP:0000057)2.19270496
98Autoamputation (HP:0001218)2.18107475
99Spastic paraparesis (HP:0002313)2.17663791
100Congenital ichthyosiform erythroderma (HP:0007431)2.17549636
101Abnormality of the foot musculature (HP:0001436)2.17079666
102Abnormality of the septum pellucidum (HP:0007375)2.16406075
103Woolly hair (HP:0002224)2.16095694
104Hammertoe (HP:0001765)2.16071311
105Metabolic alkalosis (HP:0200114)2.14122290
106Lower limb muscle weakness (HP:0007340)2.13674996
107Steatorrhea (HP:0002570)2.12117886
108Peripheral demyelination (HP:0011096)2.11338144
109Coronal craniosynostosis (HP:0004440)2.11000666
110CNS hypomyelination (HP:0003429)2.10177078
111Focal motor seizures (HP:0011153)2.07665290
112Abnormality of vitamin B metabolism (HP:0004340)2.07088092
113Birth length less than 3rd percentile (HP:0003561)2.06909730
114Exertional dyspnea (HP:0002875)2.06572306
115Aplasia cutis congenita (HP:0001057)2.06425995
116Glioma (HP:0009733)2.05622647
117Decreased number of peripheral myelinated nerve fibers (HP:0003380)2.05374513
118Hypoplastic left heart (HP:0004383)2.05141851
119Nephrogenic diabetes insipidus (HP:0009806)2.04826160
120Esophageal atresia (HP:0002032)2.03675035
121Optic disc pallor (HP:0000543)2.03150216
122Abnormality of serum amino acid levels (HP:0003112)2.02886214
123Abnormality of the parathyroid morphology (HP:0011766)2.01871560
124Abnormality of homocysteine metabolism (HP:0010919)2.01615997
125Homocystinuria (HP:0002156)2.01615997
126Abnormality of the astrocytes (HP:0100707)2.01089659
127Astrocytoma (HP:0009592)2.01089659
128Prolonged partial thromboplastin time (HP:0003645)2.00947340
129Congenital primary aphakia (HP:0007707)2.00321438
130Aplasia involving bones of the upper limbs (HP:0009823)1.99744013
131Aplasia of the phalanges of the hand (HP:0009802)1.99744013
132Aplasia involving bones of the extremities (HP:0009825)1.99744013
133Fat malabsorption (HP:0002630)1.98688745
134Cerebral hemorrhage (HP:0001342)1.98404315
135Conjunctival telangiectasia (HP:0000524)1.97983086
136Cupped ear (HP:0000378)1.97036627
137Partial agenesis of the corpus callosum (HP:0001338)1.95542066
138Abnormality of the vitamin B12 metabolism (HP:0004341)1.94168048
139Methylmalonic aciduria (HP:0012120)1.94128912
140Sparse eyelashes (HP:0000653)1.94115973
141Respiratory failure (HP:0002878)1.92642401
142Pancreatic islet-cell hyperplasia (HP:0004510)1.91857629
143Genital tract atresia (HP:0001827)1.90206195
144Epidermoid cyst (HP:0200040)1.90086633
145Abnormal protein glycosylation (HP:0012346)1.89983007
146Abnormal glycosylation (HP:0012345)1.89983007
147Abnormal isoelectric focusing of serum transferrin (HP:0003160)1.89983007
148Abnormal protein N-linked glycosylation (HP:0012347)1.89983007
149Abnormal cartilage morphology (HP:0002763)1.89910600
150Absent eyebrow (HP:0002223)1.89193988
151Abnormality of the phalanges of the 2nd finger (HP:0009541)1.87891888
152Hypokalemic alkalosis (HP:0001949)1.86447899
153Gait imbalance (HP:0002141)1.86309496
154Pancreatic cysts (HP:0001737)1.85935525
155Megalencephaly (HP:0001355)1.85669575
156Bowel incontinence (HP:0002607)1.85005093
157Abnormality of magnesium homeostasis (HP:0004921)1.84547066
158Partial duplication of thumb phalanx (HP:0009944)1.83956990
159Renal Fanconi syndrome (HP:0001994)1.83950972
160Symptomatic seizures (HP:0011145)1.83704276
161Synostosis involving the elbow (HP:0003938)1.83694260
162Humeroradial synostosis (HP:0003041)1.83694260
163Hyperphosphaturia (HP:0003109)1.83653697
164Pheochromocytoma (HP:0002666)1.83167980
165Hepatosplenomegaly (HP:0001433)1.83081626
166Lethargy (HP:0001254)1.81790101
167Gaze-evoked nystagmus (HP:0000640)1.81553193
168Vaginal atresia (HP:0000148)1.81552146
169Increased muscle lipid content (HP:0009058)1.80459320
170Hyperglycinemia (HP:0002154)1.80450931
171Distal sensory impairment (HP:0002936)1.80097852
172Spastic tetraparesis (HP:0001285)1.79665794
173Broad-based gait (HP:0002136)1.79588852
174Bifid tongue (HP:0010297)1.79276814
175Gowers sign (HP:0003391)1.78342273
176Morphological abnormality of the pyramidal tract (HP:0002062)1.78235914
177Infantile muscular hypotonia (HP:0008947)1.77389585
178Chin dimple (HP:0010751)1.77338631
179Abnormality of vitamin metabolism (HP:0100508)1.77177167
180Abnormality of the middle phalanges of the toes (HP:0010183)1.77166239
181Muscle fiber splitting (HP:0003555)1.77049520
182Decreased activity of cytochrome C oxidase in muscle tissue (HP:0003688)1.76246793
183Abolished electroretinogram (ERG) (HP:0000550)1.76198991
184Abnormal hair whorl (HP:0010721)1.75742644
185Pancreatic fibrosis (HP:0100732)1.74062408
186Dysdiadochokinesis (HP:0002075)1.73765469
187Increased serum lactate (HP:0002151)1.73421297
188Abnormality of sulfur amino acid metabolism (HP:0004339)1.73084439
189Small epiphyses (HP:0010585)1.72547103
190Abnormal large intestine physiology (HP:0012700)1.72303192
191Respiratory difficulties (HP:0002880)1.72049182
192Hyperalaninemia (HP:0003348)1.72018991
193Abnormality of pyruvate family amino acid metabolism (HP:0010915)1.72018991
194Clonus (HP:0002169)1.70272203
195Poor speech (HP:0002465)1.68128685
196Barrel-shaped chest (HP:0001552)1.67858653
197Generalized myoclonic seizures (HP:0002123)1.67582161

Predicted kinase interactions (KEA)

RankGene SetZ-score
1STK396.00812759
2OXSR14.18140218
3SRPK14.14388454
4EPHB13.62444960
5INSRR3.57604560
6EIF2AK33.44518275
7PKN12.92843427
8EIF2AK12.78861997
9TNIK2.74994030
10FER2.42350250
11AKT32.41711309
12STK38L2.39753697
13CASK2.33571032
14TYRO32.27657184
15VRK22.26254241
16WNK42.26061890
17BCR2.19406487
18MKNK22.16907072
19BRSK22.14410865
20MAPKAPK52.08046796
21PBK2.05010248
22MET1.93983248
23ZAK1.92528930
24CDK191.87825264
25TRIM281.87038912
26MAP4K21.86842989
27LIMK11.85759992
28UHMK11.84662027
29NEK61.83034612
30WNK11.75051759
31CLK11.71954952
32FGFR21.69959219
33FES1.65988944
34WEE11.62886970
35PNCK1.60860927
36TESK11.60367914
37IRAK21.59393541
38NTRK11.59151947
39EPHA31.55097665
40ICK1.52669574
41STK161.52605766
42EPHA41.52037825
43ROCK21.51154908
44FRK1.50153377
45CSNK1G31.43563150
46FGR1.43137422
47CAMK2B1.41442636
48CSNK1A1L1.40246515
49NME11.39599221
50PRPF4B1.39362667
51MAP3K121.39143342
52LATS11.34754789
53TTK1.32057632
54MST1R1.28223411
55SGK4941.22591670
56SGK2231.22591670
57TNK21.21425751
58CAMK2D1.21386868
59CDK81.19342555
60BUB11.19022034
61PRKCI1.17996764
62MARK11.15434619
63CSNK1G11.13832553
64MKNK11.13523321
65PAK61.12558930
66PINK11.08102579
67FGFR11.06920429
68CSNK1G21.06132155
69TESK21.05770009
70MARK21.05647469
71VRK11.05644022
72PLK31.03407381
73BMPR21.01174773
74WNK31.00750897
75IRAK10.99153990
76NME20.97960194
77DYRK20.94985063
78PRKCQ0.92973743
79MAPK130.92972662
80CAMK2G0.91320437
81CDK30.90584950
82MST40.89279178
83TLK10.88606067
84PAK30.88155800
85CAMK2A0.84357883
86MAP3K40.82452654
87CDK50.81843070
88MUSK0.80599800
89PLK10.76628239
90STK30.75794891
91MAPK150.74655030
92PDGFRB0.73739557
93CDC70.73014668
94PRKCE0.71519276
95PHKG20.70770820
96PHKG10.70770820
97CDK140.70689274
98ERBB30.69587592
99FYN0.67470318
100PRKD10.66273470
101TSSK60.65971615
102STK240.63818556
103CDK150.63127346
104NTRK20.61328110
105PDPK10.61009984
106MAP2K70.60374610
107MYLK0.58927904
108CSK0.58578925
109CDK180.58362637
110PTK20.57060923
111CDK11A0.56476775
112CSNK1E0.56015173
113ERBB40.55845456
114EGFR0.55219607
115BRSK10.54984872
116CDK70.54236753
117CSNK2A20.53751032
118NLK0.52167655
119PRKG10.52109901
120PIK3CA0.50584600
121TAF10.50480491
122GSK3A0.50055088
123TRPM70.49534030
124GRK10.47418105
125INSR0.46082753
126BMX0.45672320
127DAPK10.45198184
128DMPK0.44656746
129CCNB10.44436120
130CHEK20.44233881
131MAP2K10.44075675
132ROCK10.44020738
133RPS6KA50.43922060
134BMPR1B0.42990128
135CSNK2A10.41866451
136NTRK30.41544563
137ADRBK20.40927325
138PRKCH0.40454552
139CSNK1A10.40195868
140NEK10.40083996
141CSNK1D0.39927357
142IRAK40.38728951
143PDK20.37631592
144ERBB20.37215842
145PRKACB0.36650455
146GRK70.36445154
147CAMK1G0.35993310
148EPHA20.35540193
149PLK40.35467826
150LRRK20.34005657
151PRKACA0.33001634
152CDK10.32911946
153MAPK70.32911658
154ATM0.32696505
155DDR20.31900385
156EIF2AK20.31311485
157MAP3K20.30936425
158BLK0.30827336
159SGK10.29174946
160PDK10.29040260
161YES10.28786293
162STK110.28689906
163ATR0.28624405
164PRKCG0.28134185
165MAP2K20.27950707
166ARAF0.27538900
167PAK10.27148358
168LCK0.26814548
169PRKD20.26704058
170NUAK10.25731869
171DYRK1A0.25647003
172STK100.23568057

Predicted pathways (KEGG)

RankGene SetZ-score
1Terpenoid backbone biosynthesis_Homo sapiens_hsa009005.15704969
2Steroid biosynthesis_Homo sapiens_hsa001004.48123605
3Fatty acid elongation_Homo sapiens_hsa000623.92912903
4Proteasome_Homo sapiens_hsa030503.45900233
5Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.35468167
6Ether lipid metabolism_Homo sapiens_hsa005653.28598878
7Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005632.70980175
8Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.30528184
9RNA polymerase_Homo sapiens_hsa030202.23156625
10Taurine and hypotaurine metabolism_Homo sapiens_hsa004302.10418801
11Pentose and glucuronate interconversions_Homo sapiens_hsa000402.09302023
12Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009802.07766505
13Sphingolipid metabolism_Homo sapiens_hsa006002.04341343
14Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.04156713
15Mismatch repair_Homo sapiens_hsa034302.03681203
16Axon guidance_Homo sapiens_hsa043602.02652233
17Fat digestion and absorption_Homo sapiens_hsa049752.02036956
18Ribosome_Homo sapiens_hsa030102.00366316
19Sulfur metabolism_Homo sapiens_hsa009201.90442572
20Vitamin B6 metabolism_Homo sapiens_hsa007501.88367190
21Chemical carcinogenesis_Homo sapiens_hsa052041.87941137
22DNA replication_Homo sapiens_hsa030301.72232688
23Cell adhesion molecules (CAMs)_Homo sapiens_hsa045141.71343822
24Glutamatergic synapse_Homo sapiens_hsa047241.64061286
25Oxidative phosphorylation_Homo sapiens_hsa001901.63251692
26Primary bile acid biosynthesis_Homo sapiens_hsa001201.61676295
27Caffeine metabolism_Homo sapiens_hsa002321.61637576
28Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.61368839
29Homologous recombination_Homo sapiens_hsa034401.60604546
30Linoleic acid metabolism_Homo sapiens_hsa005911.53558426
31One carbon pool by folate_Homo sapiens_hsa006701.48851156
32Protein export_Homo sapiens_hsa030601.43210941
33Serotonergic synapse_Homo sapiens_hsa047261.42982314
34GABAergic synapse_Homo sapiens_hsa047271.41504260
35Drug metabolism - other enzymes_Homo sapiens_hsa009831.41229407
36Histidine metabolism_Homo sapiens_hsa003401.37611565
37alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.37570458
38Tyrosine metabolism_Homo sapiens_hsa003501.37251425
39Butanoate metabolism_Homo sapiens_hsa006501.36295460
40RNA degradation_Homo sapiens_hsa030181.32495172
41Spliceosome_Homo sapiens_hsa030401.29747412
42Nitrogen metabolism_Homo sapiens_hsa009101.29531936
43Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.28740259
442-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.26136270
45Long-term depression_Homo sapiens_hsa047301.23178245
46Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.21969943
47Base excision repair_Homo sapiens_hsa034101.19579216
48Morphine addiction_Homo sapiens_hsa050321.18294176
49Non-homologous end-joining_Homo sapiens_hsa034501.18087890
50Cysteine and methionine metabolism_Homo sapiens_hsa002701.16253512
51Phenylalanine metabolism_Homo sapiens_hsa003601.15510478
52Fatty acid degradation_Homo sapiens_hsa000711.12539135
53Collecting duct acid secretion_Homo sapiens_hsa049661.10948898
54Alzheimers disease_Homo sapiens_hsa050101.10652278
55Basal transcription factors_Homo sapiens_hsa030221.10622128
56Renal cell carcinoma_Homo sapiens_hsa052111.08947958
57Nucleotide excision repair_Homo sapiens_hsa034201.08549031
58Sphingolipid signaling pathway_Homo sapiens_hsa040711.01326322
59Parkinsons disease_Homo sapiens_hsa050121.01139077
60Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.00754610
61Nicotine addiction_Homo sapiens_hsa050331.00421197
62Pyrimidine metabolism_Homo sapiens_hsa002400.97487609
63Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.96571033
64Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.96107930
65Cholinergic synapse_Homo sapiens_hsa047250.95647654
66Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.95296377
67Arginine and proline metabolism_Homo sapiens_hsa003300.94240521
68SNARE interactions in vesicular transport_Homo sapiens_hsa041300.93793794
69Tight junction_Homo sapiens_hsa045300.93226641
70beta-Alanine metabolism_Homo sapiens_hsa004100.89479050
71Vibrio cholerae infection_Homo sapiens_hsa051100.89381659
72Salivary secretion_Homo sapiens_hsa049700.89117710
73Starch and sucrose metabolism_Homo sapiens_hsa005000.88571467
74Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.88129074
75Pyruvate metabolism_Homo sapiens_hsa006200.86395650
76RNA transport_Homo sapiens_hsa030130.85417660
77Circadian entrainment_Homo sapiens_hsa047130.85074793
78Phototransduction_Homo sapiens_hsa047440.84195228
79Cocaine addiction_Homo sapiens_hsa050300.83887387
80Vascular smooth muscle contraction_Homo sapiens_hsa042700.81446893
81Phospholipase D signaling pathway_Homo sapiens_hsa040720.80742959
82Complement and coagulation cascades_Homo sapiens_hsa046100.77824345
83Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.75669208
84Arachidonic acid metabolism_Homo sapiens_hsa005900.75494281
85Arginine biosynthesis_Homo sapiens_hsa002200.75179986
86Ovarian steroidogenesis_Homo sapiens_hsa049130.74895705
87N-Glycan biosynthesis_Homo sapiens_hsa005100.74834140
88Dorso-ventral axis formation_Homo sapiens_hsa043200.74094859
89Gastric acid secretion_Homo sapiens_hsa049710.74083260
90PPAR signaling pathway_Homo sapiens_hsa033200.73397472
91Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.72461097
92Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.71252137
93Ras signaling pathway_Homo sapiens_hsa040140.70473756
94Glycerophospholipid metabolism_Homo sapiens_hsa005640.69768158
95Dopaminergic synapse_Homo sapiens_hsa047280.69219848
96Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.66876819
97Purine metabolism_Homo sapiens_hsa002300.66797653
98Prion diseases_Homo sapiens_hsa050200.66031340
99Steroid hormone biosynthesis_Homo sapiens_hsa001400.65265082
100Rheumatoid arthritis_Homo sapiens_hsa053230.64975596
101Cell cycle_Homo sapiens_hsa041100.64024393
102ECM-receptor interaction_Homo sapiens_hsa045120.63972500
103Cardiac muscle contraction_Homo sapiens_hsa042600.63928180
104Autoimmune thyroid disease_Homo sapiens_hsa053200.63773525
105ErbB signaling pathway_Homo sapiens_hsa040120.63602391
106Fanconi anemia pathway_Homo sapiens_hsa034600.63341866
107Fatty acid biosynthesis_Homo sapiens_hsa000610.62732999
108Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.60800750
109Synaptic vesicle cycle_Homo sapiens_hsa047210.59350548
110Glycerolipid metabolism_Homo sapiens_hsa005610.58869598
111Endocytosis_Homo sapiens_hsa041440.58419341
112Pancreatic secretion_Homo sapiens_hsa049720.58202635
113Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.58082816
114Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.57758618
115Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.57051885
116Taste transduction_Homo sapiens_hsa047420.55790511
117Fatty acid metabolism_Homo sapiens_hsa012120.55687586
118Hedgehog signaling pathway_Homo sapiens_hsa043400.55480234
119Choline metabolism in cancer_Homo sapiens_hsa052310.55331587
120Renin secretion_Homo sapiens_hsa049240.53940322
121Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.53816960
122Maturity onset diabetes of the young_Homo sapiens_hsa049500.52367011
123Lysine degradation_Homo sapiens_hsa003100.52071784
124Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.51662600
125Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.50803078
126Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.50024581
127Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.49325237
128Gap junction_Homo sapiens_hsa045400.48092837
129Lysosome_Homo sapiens_hsa041420.47622574
130Tryptophan metabolism_Homo sapiens_hsa003800.46702204
131Protein digestion and absorption_Homo sapiens_hsa049740.45765528
132Phagosome_Homo sapiens_hsa041450.44918262
133Oocyte meiosis_Homo sapiens_hsa041140.44380192
134Mineral absorption_Homo sapiens_hsa049780.44373124
135Regulation of actin cytoskeleton_Homo sapiens_hsa048100.44098397
136Amphetamine addiction_Homo sapiens_hsa050310.43347646
137Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.42793986
138mRNA surveillance pathway_Homo sapiens_hsa030150.40965900
139Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.40704522
140Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.40481651
141Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.39710887
142Huntingtons disease_Homo sapiens_hsa050160.39165644
143Biosynthesis of amino acids_Homo sapiens_hsa012300.38514531
144cAMP signaling pathway_Homo sapiens_hsa040240.38498259
145Propanoate metabolism_Homo sapiens_hsa006400.37712236
146ABC transporters_Homo sapiens_hsa020100.36871421
147Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.36283892
148Vitamin digestion and absorption_Homo sapiens_hsa049770.36051829
149Oxytocin signaling pathway_Homo sapiens_hsa049210.34222450
150Glutathione metabolism_Homo sapiens_hsa004800.33934714
151Phosphatidylinositol signaling system_Homo sapiens_hsa040700.33249678
152Peroxisome_Homo sapiens_hsa041460.32964968
153Calcium signaling pathway_Homo sapiens_hsa040200.32585746
154Long-term potentiation_Homo sapiens_hsa047200.31076586
155Retinol metabolism_Homo sapiens_hsa008300.28955718
156Metabolic pathways_Homo sapiens_hsa011000.28650873
157Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.28452016
158Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.27172002
159Malaria_Homo sapiens_hsa051440.25926272

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