TERT

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: Telomerase is a ribonucleoprotein polymerase that maintains telomere ends by addition of the telomere repeat TTAGGG. The enzyme consists of a protein component with reverse transcriptase activity, encoded by this gene, and an RNA component which serves as a template for the telomere repeat. Telomerase expression plays a role in cellular senescence, as it is normally repressed in postnatal somatic cells resulting in progressive shortening of telomeres. Deregulation of telomerase expression in somatic cells may be involved in oncogenesis. Studies in mouse suggest that telomerase also participates in chromosomal repair, since de novo synthesis of telomere repeats may occur at double-stranded breaks. Alternatively spliced variants encoding different isoforms of telomerase reverse transcriptase have been identified; the full-length sequence of some variants has not been determined. Alternative splicing at this locus is thought to be one mechanism of regulation of telomerase activity. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine catabolic process (GO:0006559)7.45952374
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.45952374
3L-phenylalanine metabolic process (GO:0006558)7.22569359
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.22569359
5aromatic amino acid family catabolic process (GO:0009074)5.98908410
6cell migration involved in heart development (GO:0060973)5.23470697
7blood vessel maturation (GO:0001955)5.23180736
8negative regulation of fibrinolysis (GO:0051918)5.14022709
9urea cycle (GO:0000050)5.07955102
10urea metabolic process (GO:0019627)5.07955102
11triglyceride-rich lipoprotein particle remodeling (GO:0034370)5.03326571
12kynurenine metabolic process (GO:0070189)4.99860999
13alpha-linolenic acid metabolic process (GO:0036109)4.79270902
14sulfur amino acid catabolic process (GO:0000098)4.78759898
15bile acid biosynthetic process (GO:0006699)4.76596226
16tryptophan catabolic process (GO:0006569)4.76551373
17indole-containing compound catabolic process (GO:0042436)4.76551373
18indolalkylamine catabolic process (GO:0046218)4.76551373
19glyoxylate metabolic process (GO:0046487)4.76154497
20regulation of fibrinolysis (GO:0051917)4.74691524
21adhesion of symbiont to host cell (GO:0044650)4.72733766
22virion attachment to host cell (GO:0019062)4.72733766
23negative regulation of pathway-restricted SMAD protein phosphorylation (GO:0060394)4.70030612
24serine family amino acid catabolic process (GO:0009071)4.64915650
25glycine metabolic process (GO:0006544)4.64846310
26tryptophan metabolic process (GO:0006568)4.62945144
27endocardial cushion development (GO:0003197)4.58608107
28endothelial cell morphogenesis (GO:0001886)4.57092200
29negative regulation of cholesterol transport (GO:0032375)4.52526548
30negative regulation of sterol transport (GO:0032372)4.52526548
31arginine metabolic process (GO:0006525)4.50999857
32nitrogen cycle metabolic process (GO:0071941)4.50852169
33cell migration involved in sprouting angiogenesis (GO:0002042)4.45683357
34high-density lipoprotein particle remodeling (GO:0034375)4.42694415
35aromatic amino acid family metabolic process (GO:0009072)4.37655500
36substrate-dependent cell migration (GO:0006929)4.36597259
37lymphangiogenesis (GO:0001946)4.31460053
38tyrosine metabolic process (GO:0006570)4.26874428
39peptidyl-glutamic acid carboxylation (GO:0017187)4.25125811
40protein carboxylation (GO:0018214)4.25125811
41venous blood vessel morphogenesis (GO:0048845)4.23801184
42positive regulation of blood vessel endothelial cell migration (GO:0043536)4.23576214
43lysine catabolic process (GO:0006554)4.22594584
44lysine metabolic process (GO:0006553)4.22594584
45cysteine metabolic process (GO:0006534)4.17145803
46bile acid metabolic process (GO:0008206)4.15032277
47adhesion of symbiont to host (GO:0044406)4.10498245
48positive regulation of interleukin-8 secretion (GO:2000484)4.09732358
49regulation of protein activation cascade (GO:2000257)4.07644948
50regulation of vascular endothelial growth factor signaling pathway (GO:1900746)4.07362787
51endodermal cell differentiation (GO:0035987)4.05543779
52imidazole-containing compound metabolic process (GO:0052803)4.02262231
53alpha-amino acid catabolic process (GO:1901606)3.96549601
54collagen fibril organization (GO:0030199)3.94534525
55fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)3.88673857
56heparan sulfate proteoglycan biosynthetic process (GO:0015012)3.88245124
57chondrocyte proliferation (GO:0035988)3.86905487
58homocysteine metabolic process (GO:0050667)3.86537312
59regulation of plasminogen activation (GO:0010755)3.85933092
60protein heterotrimerization (GO:0070208)3.85685276
61amino-acid betaine metabolic process (GO:0006577)3.85157536
62complement activation, alternative pathway (GO:0006957)3.84159618
63triglyceride homeostasis (GO:0070328)3.83342060
64acylglycerol homeostasis (GO:0055090)3.83342060
65indolalkylamine metabolic process (GO:0006586)3.82721982
66intestinal cholesterol absorption (GO:0030299)3.78677960
67serine family amino acid metabolic process (GO:0009069)3.77660745
68cellular amino acid catabolic process (GO:0009063)3.77223959
69serine family amino acid biosynthetic process (GO:0009070)3.77082141
70regulation of cholesterol homeostasis (GO:2000188)3.76416611
71regulation of complement activation (GO:0030449)3.74015032
72regulation of cholesterol esterification (GO:0010872)3.73835014
73dicarboxylic acid biosynthetic process (GO:0043650)3.69166128
74reverse cholesterol transport (GO:0043691)3.68707575
75regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.63001753
76drug catabolic process (GO:0042737)3.61843027
77blood vessel endothelial cell migration (GO:0043534)3.59180657
78folic acid-containing compound biosynthetic process (GO:0009396)3.58738643
79bile acid and bile salt transport (GO:0015721)3.53585524
80regulation of triglyceride catabolic process (GO:0010896)3.53077388
81regulation of lipoprotein particle clearance (GO:0010984)3.52459401
82glutamate metabolic process (GO:0006536)3.52158567
83plasma lipoprotein particle remodeling (GO:0034369)3.51338511
84protein-lipid complex remodeling (GO:0034368)3.51338511
85macromolecular complex remodeling (GO:0034367)3.51338511
86hyaluronan catabolic process (GO:0030214)3.46399782
87very-low-density lipoprotein particle assembly (GO:0034379)3.40599617
88cholesterol homeostasis (GO:0042632)3.39851124
89plasma lipoprotein particle assembly (GO:0034377)3.39178011
90tetrahydrofolate metabolic process (GO:0046653)3.37972352
91pyrimidine-containing compound transmembrane transport (GO:0072531)3.37956001
92pinocytosis (GO:0006907)3.37685123
93negative regulation of chondrocyte differentiation (GO:0032331)3.37661083
94cholesterol efflux (GO:0033344)3.36498295
95skin morphogenesis (GO:0043589)3.35898305
96sterol homeostasis (GO:0055092)3.32807724
97lipoprotein metabolic process (GO:0042157)3.32457069
98basement membrane organization (GO:0071711)3.32078519
99cellular glucuronidation (GO:0052695)3.31933336
100negative regulation of nitric-oxide synthase activity (GO:0051001)3.31904744
101negative regulation of fatty acid biosynthetic process (GO:0045717)3.31860863
102phospholipid efflux (GO:0033700)3.30531278
103protein localization to endosome (GO:0036010)3.29746753
104coenzyme catabolic process (GO:0009109)3.29532971
105sprouting angiogenesis (GO:0002040)3.28163621
106cellular modified amino acid catabolic process (GO:0042219)3.26896492
107drug metabolic process (GO:0017144)3.26115207
108aspartate family amino acid catabolic process (GO:0009068)3.22647149
109kidney mesenchyme development (GO:0072074)3.20195323
110one-carbon metabolic process (GO:0006730)3.19808872
111positive regulation of osteoblast proliferation (GO:0033690)3.18671370
112anterior/posterior axis specification, embryo (GO:0008595)3.18617775
113cartilage development involved in endochondral bone morphogenesis (GO:0060351)3.18256340
114pteridine-containing compound biosynthetic process (GO:0042559)3.18023159
1152-oxoglutarate metabolic process (GO:0006103)3.17128203
116atrioventricular valve morphogenesis (GO:0003181)3.16023006
117positive regulation of triglyceride lipase activity (GO:0061365)3.14274557
118positive regulation of lipoprotein lipase activity (GO:0051006)3.14274557
119positive regulation of endothelial cell migration (GO:0010595)3.13620781
120negative regulation of osteoblast proliferation (GO:0033689)3.12955772
121benzene-containing compound metabolic process (GO:0042537)3.12616882
122epoxygenase P450 pathway (GO:0019373)3.12409906
123plasma lipoprotein particle clearance (GO:0034381)3.12060704
124cell-substrate junction assembly (GO:0007044)3.11476656
125carboxylic acid catabolic process (GO:0046395)3.08897501
126organic acid catabolic process (GO:0016054)3.08897501
127neuron projection extension involved in neuron projection guidance (GO:1902284)3.08770962
128axon extension involved in axon guidance (GO:0048846)3.08770962
129protein-lipid complex assembly (GO:0065005)3.08645182
130ethanol oxidation (GO:0006069)3.06462246
131sequestering of extracellular ligand from receptor (GO:0035581)3.05686062
132regulation of bile acid biosynthetic process (GO:0070857)3.05273812
133L-alpha-amino acid transmembrane transport (GO:1902475)3.05099845
134focal adhesion assembly (GO:0048041)3.04076293
135cell-substrate adherens junction assembly (GO:0007045)3.04076293
136positive regulation of fatty acid beta-oxidation (GO:0032000)3.03644077
137adherens junction assembly (GO:0034333)3.02063870
138regulation of early endosome to late endosome transport (GO:2000641)3.01687259
139positive regulation of endothelial cell apoptotic process (GO:2000353)3.01403842
140response to magnesium ion (GO:0032026)3.01179989
141exogenous drug catabolic process (GO:0042738)2.99449159
142complement activation, classical pathway (GO:0006958)2.99257862
143amine catabolic process (GO:0009310)2.99035102
144cellular biogenic amine catabolic process (GO:0042402)2.99035102
145pericardium development (GO:0060039)2.98417737
146vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.97924136
147wound healing, spreading of cells (GO:0044319)2.92753347
148bone trabecula formation (GO:0060346)2.92674369
149positive regulation of lipid catabolic process (GO:0050996)2.92061458
150protein localization to kinetochore (GO:0034501)2.90978566
151cellular ketone body metabolic process (GO:0046950)2.90652225
152negative regulation of cell fate specification (GO:0009996)2.90028736
153embryonic cranial skeleton morphogenesis (GO:0048701)2.89330642
154protein retention in ER lumen (GO:0006621)2.88566015
155regulation of cell fate specification (GO:0042659)2.87926338
156extracellular matrix assembly (GO:0085029)2.86400986
157positive regulation of receptor recycling (GO:0001921)2.86095331
158positive regulation of protein autophosphorylation (GO:0031954)2.85016789
159negative regulation of adherens junction organization (GO:1903392)2.82407799
160negative regulation of focal adhesion assembly (GO:0051895)2.82407799
161negative regulation of cell junction assembly (GO:1901889)2.82407799
162retina vasculature morphogenesis in camera-type eye (GO:0061299)2.82303569
163negative regulation of fatty acid transport (GO:2000192)2.81625816
164maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.81090937
165atrial septum morphogenesis (GO:0060413)2.80831739
166collagen metabolic process (GO:0032963)2.80626743
167negative regulation of axon extension involved in axon guidance (GO:0048843)2.80117320
168positive regulation of cartilage development (GO:0061036)2.79472010
169wound healing, spreading of epidermal cells (GO:0035313)2.79431719
170embryonic process involved in female pregnancy (GO:0060136)2.77051908
171negative regulation of leukocyte chemotaxis (GO:0002689)2.76535604
172type B pancreatic cell proliferation (GO:0044342)2.75461564
173negative regulation of BMP signaling pathway (GO:0030514)2.75107377
174neural crest cell development (GO:0014032)2.74088274
175cellular response to vitamin (GO:0071295)2.73832614
176negative regulation of smooth muscle cell migration (GO:0014912)2.71146851
177negative regulation of myoblast differentiation (GO:0045662)2.70992846
178positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)2.70462919
179lens morphogenesis in camera-type eye (GO:0002089)2.70345655
180DNA unwinding involved in DNA replication (GO:0006268)2.69385388
181middle ear morphogenesis (GO:0042474)2.68146916
182negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.67864402
183positive regulation of axon extension (GO:0045773)2.67125886
184regulation of osteoblast proliferation (GO:0033688)2.65387998
185mitotic chromosome condensation (GO:0007076)2.64676242
186positive regulation of fibroblast migration (GO:0010763)2.63390506
187paraxial mesoderm development (GO:0048339)2.60826338
188hypotonic response (GO:0006971)2.59917024
189stress fiber assembly (GO:0043149)2.59767048
190glomerular visceral epithelial cell development (GO:0072015)2.58911975
191endothelial cell migration (GO:0043542)2.58529826
192regulation of mammary gland epithelial cell proliferation (GO:0033599)2.58148667
193artery development (GO:0060840)2.57218387
194positive regulation of catecholamine secretion (GO:0033605)2.56571680
195mesenchymal-epithelial cell signaling (GO:0060638)2.54139157
196multicellular organismal macromolecule metabolic process (GO:0044259)2.54058521
197regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035358)2.52988506
198heparan sulfate proteoglycan metabolic process (GO:0030201)2.52526225
199positive regulation of SMAD protein import into nucleus (GO:0060391)2.52372482
200vascular endothelial growth factor signaling pathway (GO:0038084)2.48634951

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse8.14323195
2RXR_22158963_ChIP-Seq_LIVER_Mouse6.03039698
3E2F7_22180533_ChIP-Seq_HELA_Human5.83719444
4* PPARA_22158963_ChIP-Seq_LIVER_Mouse5.39589818
5EGR1_23403033_ChIP-Seq_LIVER_Mouse4.74187485
6LXR_22158963_ChIP-Seq_LIVER_Mouse4.55052839
7TRIM28_21343339_ChIP-Seq_HEK293_Human4.38595259
8* CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.06884234
9RARG_19884340_ChIP-ChIP_MEFs_Mouse3.75821382
10TP63_17297297_ChIP-ChIP_HaCaT_Human3.66879395
11CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.22246735
12PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse3.09079042
13FOXO1_23066095_ChIP-Seq_LIVER_Mouse3.03224785
14ELK3_25401928_ChIP-Seq_HUVEC_Human2.97306962
15NR1I2_20693526_ChIP-Seq_LIVER_Mouse2.86289203
16RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.82112436
17STAT6_21828071_ChIP-Seq_BEAS2B_Human2.57885824
18FOXM1_23109430_ChIP-Seq_U2OS_Human2.53622328
19BRD4_25478319_ChIP-Seq_HGPS_Human2.53577365
20PPARG_19300518_ChIP-PET_3T3-L1_Mouse2.47169053
21TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.42133206
22SMAD_19615063_ChIP-ChIP_OVARY_Human2.12241230
23WT1_19549856_ChIP-ChIP_CCG9911_Human2.10277813
24* MYC_22102868_ChIP-Seq_BL_Human1.95074059
25* ESR1_15608294_ChIP-ChIP_MCF-7_Human1.87372764
26MYC_18555785_ChIP-Seq_MESCs_Mouse1.86996207
27CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.81501882
28TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.73696596
29DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.73395881
30WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.70411114
31TP53_22127205_ChIP-Seq_IMR90_Human1.67239023
32EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse1.66700577
33P300_27058665_Chip-Seq_ZR-75-30cells_Human1.65313245
34POU5F1_18555785_ChIP-Seq_MESCs_Mouse1.64099455
35SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.61186698
36UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.59251112
37ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.57732216
38UBF1/2_26484160_Chip-Seq_HMECs_Human1.57203892
39EGR1_19374776_ChIP-ChIP_THP-1_Human1.55542230
40HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.54709625
41NACC1_18358816_ChIP-ChIP_MESCs_Mouse1.54547111
42STAT3_1855785_ChIP-Seq_MESCs_Mouse1.54461180
43* VDR_21846776_ChIP-Seq_THP-1_Human1.53153439
44KDM5B_21448134_ChIP-Seq_MESCs_Mouse1.51355744
45SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.50438771
46SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.50438771
47SOX2_18358816_ChIP-ChIP_MESCs_Mouse1.45702954
48MYC_19079543_ChIP-ChIP_MESCs_Mouse1.44692992
49HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.42681902
50HIF1A_21447827_ChIP-Seq_MCF-7_Human1.42657556
51POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.41536841
52GATA2_21666600_ChIP-Seq_HMVEC_Human1.41280964
53THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.40226702
54* KDM2B_26808549_Chip-Seq_SUP-B15_Human1.39909077
55* LXR_22292898_ChIP-Seq_THP-1_Human1.39271816
56KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.38138636
57ATF3_27146783_Chip-Seq_COLON_Human1.37424827
58SMAD1_18555785_ChIP-Seq_MESCs_Mouse1.36889013
59ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.36806591
60TCF3_18692474_ChIP-Seq_MEFs_Mouse1.36291505
61FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.35433672
62RBPJ_22232070_ChIP-Seq_NCS_Mouse1.35005845
63FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human1.33582189
64SMC1_22415368_ChIP-Seq_MEFs_Mouse1.32664282
65KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.28668985
66TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.27763537
67* MYC_19030024_ChIP-ChIP_MESCs_Mouse1.27649008
68NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.25933339
69BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.25004693
70* KLF4_18555785_ChIP-Seq_MESCs_Mouse1.24535120
71MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse1.23935654
72TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.23561237
73SMC3_22415368_ChIP-Seq_MEFs_Mouse1.23517854
74ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.23244238
75HNF4A_19822575_ChIP-Seq_HepG2_Human1.22454077
76SALL1_21062744_ChIP-ChIP_HESCs_Human1.22335173
77POU5F1_18358816_ChIP-ChIP_MESCs_Mouse1.21518371
78CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse1.21419890
79E2F1_21310950_ChIP-Seq_MCF-7_Human1.21312127
80TCF3_18692474_ChIP-Seq_MESCs_Mouse1.20633887
81ESR1_20079471_ChIP-ChIP_T-47D_Human1.20217616
82SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.18662859
83* MYC_18358816_ChIP-ChIP_MESCs_Mouse1.18339853
84JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.17265846
85ZFP281_27345836_Chip-Seq_ESCs_Mouse1.16760583
86NFIB_24661679_ChIP-Seq_LUNG_Mouse1.15517704
87KDM5A_27292631_Chip-Seq_BREAST_Human1.14918372
88TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.13454322
89TP53_23651856_ChIP-Seq_MEFs_Mouse1.12761735
90* EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.12569219
91EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.11370263
92NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.10669655
93ZFP281_18757296_ChIP-ChIP_E14_Mouse1.10278651
94SOX9_24532713_ChIP-Seq_HFSC_Mouse1.09515090
95CREB1_20920259_ChIP-Seq_GC1-SPG_Mouse1.09374339
96AR_21909140_ChIP-Seq_LNCAP_Human1.09180109
97STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.08808576
98CJUN_26792858_Chip-Seq_BT549_Human1.08496902
99PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.08192156
100NANOG_21062744_ChIP-ChIP_HESCs_Human1.08066831
101NELFA_20434984_ChIP-Seq_ESCs_Mouse1.07837836
102* MYCN_18555785_ChIP-Seq_MESCs_Mouse1.06951810
103SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.06804572
104PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.06672609
105CNOT3_19339689_ChIP-ChIP_MESCs_Mouse1.06533988
106ZNF263_19887448_ChIP-Seq_K562_Human1.06476490
107NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.05380712
108TP53_20018659_ChIP-ChIP_R1E_Mouse1.05269716
109JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.05014553
110SA1_22415368_ChIP-Seq_MEFs_Mouse1.04628954
111EED_16625203_ChIP-ChIP_MESCs_Mouse1.03638210
112NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.03610050
113KDM2B_26808549_Chip-Seq_K562_Human1.03214225
114FOXA2_19822575_ChIP-Seq_HepG2_Human1.02943772
115CLOCK_20551151_ChIP-Seq_293T_Human1.02323430
116ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.00978494
117DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.00594311
118KLF4_19030024_ChIP-ChIP_MESCs_Mouse0.99518603
119MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.99431630
120E2F4_17652178_ChIP-ChIP_JURKAT_Human0.97633157
121TFEB_21752829_ChIP-Seq_HELA_Human0.97439688
122RXRA_24833708_ChIP-Seq_LIVER_Mouse0.96728497
123ZFX_18555785_ChIP-Seq_MESCs_Mouse0.96072605
124* TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.94061607
125* E2F1_18555785_ChIP-Seq_MESCs_Mouse0.92895930
126ELF1_17652178_ChIP-ChIP_JURKAT_Human0.92699693
127POU5F1_16518401_ChIP-PET_MESCs_Mouse0.90911649
128OCT4_18692474_ChIP-Seq_MEFs_Mouse0.90775549
129NANOG_18358816_ChIP-ChIP_MESCs_Mouse0.90774474
130SOX2_18555785_ChIP-Seq_MESCs_Mouse0.89675935
131KAP1_27257070_Chip-Seq_ESCs_Mouse0.88985408
132ESR1_21235772_ChIP-Seq_MCF-7_Human0.87905995
133PDX1_19855005_ChIP-ChIP_MIN6_Mouse0.87737185
134TCF7_22412390_ChIP-Seq_EML_Mouse0.86969164
135PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.84587401
136GATA6_25053715_ChIP-Seq_YYC3_Human0.83969044
137NANOG_18555785_ChIP-Seq_MESCs_Mouse0.83964175
138SOX2_18692474_ChIP-Seq_MESCs_Mouse0.83678788
139FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.83676309
140CREB1_15753290_ChIP-ChIP_HEK293T_Human0.83119703
141* RARB_24833708_ChIP-Seq_LIVER_Mouse0.82335504
142XRN2_22483619_ChIP-Seq_HELA_Human0.82126664
143SOX2_27498859_Chip-Seq_STOMACH_Mouse0.82056190
144MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.80638180
145TP63_19390658_ChIP-ChIP_HaCaT_Human0.79927504
146NANOG_16518401_ChIP-PET_MESCs_Mouse0.79787072
147SOX2_18692474_ChIP-Seq_MEFs_Mouse0.79550315
148CCND1_20090754_ChIP-ChIP_RETINA_Mouse0.78612172
149CHD1_26751641_Chip-Seq_LNCaP_Human0.78550314
150KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.78543427
151NCOR1_26117541_ChIP-Seq_K562_Human0.77705361
152KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.76353085
153TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse0.75896044
154KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.75801903
155KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.75801903
156KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.75801903
157ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.75681764
158NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.74919213
159NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.74840102
160SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse0.73984216
161HCFC1_20581084_ChIP-Seq_MESCs_Mouse0.73874498
162RACK7_27058665_Chip-Seq_MCF-7_Human0.73447284
163* KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.72911441
164KAP1_22055183_ChIP-Seq_ESCs_Mouse0.72825504

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system7.70126098
2MP0008438_abnormal_cutaneous_collagen6.36170735
3MP0005360_urolithiasis6.23967494
4MP0005365_abnormal_bile_salt5.43471755
5MP0005085_abnormal_gallbladder_physiolo5.33499689
6MP0003806_abnormal_nucleotide_metabolis4.34790691
7MP0003279_aneurysm3.95179925
8MP0008875_abnormal_xenobiotic_pharmacok3.88237612
9MP0005503_abnormal_tendon_morphology3.80468602
10MP0004272_abnormal_basement_membrane3.71760836
11MP0003252_abnormal_bile_duct3.48906796
12MP0010329_abnormal_lipoprotein_level3.32539647
13MP0009384_cardiac_valve_regurgitation3.27808636
14MP0005257_abnormal_intraocular_pressure3.17808262
15MP0010368_abnormal_lymphatic_system3.03916317
16MP0001958_emphysema2.72175957
17MP0005083_abnormal_biliary_tract2.41423645
18MP0003566_abnormal_cell_adhesion2.39330444
19MP0001666_abnormal_nutrient_absorption2.35253909
20MP0003705_abnormal_hypodermis_morpholog2.32554543
21MP0001542_abnormal_bone_strength2.25792806
22MP0005275_abnormal_skin_tensile2.24006516
23MP0002254_reproductive_system_inflammat2.23978228
24MP0000767_abnormal_smooth_muscle2.18478283
25MP0003950_abnormal_plasma_membrane2.17636245
26MP0009840_abnormal_foam_cell2.12471659
27MP0005623_abnormal_meninges_morphology2.10394923
28MP0003123_paternal_imprinting2.09815517
29MP0005332_abnormal_amino_acid2.05218722
30MP0003941_abnormal_skin_development2.02023364
31MP0000609_abnormal_liver_physiology1.97077891
32MP0003868_abnormal_feces_composition1.88703392
33MP0003091_abnormal_cell_migration1.80329733
34MP0005508_abnormal_skeleton_morphology1.76041152
35MP0009250_abnormal_appendicular_skeleto1.71155396
36MP0005319_abnormal_enzyme/_coenzyme1.68510506
37MP0004264_abnormal_extraembryonic_tissu1.67198267
38MP0003724_increased_susceptibility_to1.64909156
39MP0002118_abnormal_lipid_homeostasis1.62516288
40MP0010352_gastrointestinal_tract_polyps1.59667785
41MP0002060_abnormal_skin_morphology1.57523198
42MP0003195_calcinosis1.56387932
43MP0000534_abnormal_ureter_morphology1.52736582
44MP0001348_abnormal_lacrimal_gland1.48921143
45MP0000733_abnormal_muscle_development1.45291806
46MP0009053_abnormal_anal_canal1.43789880
47MP0003186_abnormal_redox_activity1.41973786
48MP0003191_abnormal_cellular_cholesterol1.41304438
49MP0002295_abnormal_pulmonary_circulatio1.40592490
50MP0006054_spinal_hemorrhage1.36305377
51MP0001879_abnormal_lymphatic_vessel1.35706709
52MP0001243_abnormal_dermal_layer1.34177217
53MP0000049_abnormal_middle_ear1.33089395
54MP0002108_abnormal_muscle_morphology1.30518800
55MP0000598_abnormal_liver_morphology1.26796249
56MP0004019_abnormal_vitamin_homeostasis1.26089844
57MP0005595_abnormal_vascular_smooth1.25319094
58MP0005408_hypopigmentation1.25028552
59MP0001299_abnormal_eye_distance/1.19833808
60MP0002896_abnormal_bone_mineralization1.18788905
61MP0002877_abnormal_melanocyte_morpholog1.18404439
62MP0005197_abnormal_uvea_morphology1.17568785
63MP0005367_renal/urinary_system_phenotyp1.14525989
64MP0000516_abnormal_urinary_system1.14525989
65MP0003121_genomic_imprinting1.14447467
66MP0000751_myopathy1.14038519
67MP0000759_abnormal_skeletal_muscle1.13870432
68MP0004858_abnormal_nervous_system1.13592237
69MP0008932_abnormal_embryonic_tissue1.13112746
70MP0000762_abnormal_tongue_morphology1.12698766
71MP0000428_abnormal_craniofacial_morphol1.11516596
72MP0005220_abnormal_exocrine_pancreas1.10657612
73MP0002653_abnormal_ependyma_morphology1.10396595
74MP0003385_abnormal_body_wall1.09820791
75MP0002138_abnormal_hepatobiliary_system1.09693398
76MP0009697_abnormal_copulation1.07399345
77MP0003077_abnormal_cell_cycle1.06898524
78MP0000749_muscle_degeneration1.05409466
79MP0009672_abnormal_birth_weight1.05014512
80MP0006035_abnormal_mitochondrial_morpho1.04124927
81MP0003890_abnormal_embryonic-extraembry1.01145124
82MP0005451_abnormal_body_composition0.99324498
83MP0000465_gastrointestinal_hemorrhage0.98597832
84MP0002089_abnormal_postnatal_growth/wei0.96966521
85MP0001764_abnormal_homeostasis0.96571045
86MP0004808_abnormal_hematopoietic_stem0.95458350
87MP0005076_abnormal_cell_differentiation0.95176238
88* MP0003111_abnormal_nucleus_morphology0.94915307
89MP0005171_absent_coat_pigmentation0.93231439
90MP0003828_pulmonary_edema0.93225653
91MP0003656_abnormal_erythrocyte_physiolo0.92905784
92MP0002925_abnormal_cardiovascular_devel0.91891681
93MP0001730_embryonic_growth_arrest0.90171512
94MP0009765_abnormal_xenobiotic_induced0.90062054
95MP0005187_abnormal_penis_morphology0.89390192
96MP0001614_abnormal_blood_vessel0.87766118
97MP0004233_abnormal_muscle_weight0.87763806
98MP0005248_abnormal_Harderian_gland0.87414301
99MP0010307_abnormal_tumor_latency0.87258354
100MP0000432_abnormal_head_morphology0.86273773
101MP0009643_abnormal_urine_homeostasis0.86028858
102MP0000003_abnormal_adipose_tissue0.85902146
103* MP0010094_abnormal_chromosome_stability0.85526576
104MP0009763_increased_sensitivity_to0.84639314
105MP0004197_abnormal_fetal_growth/weight/0.84004300
106MP0003755_abnormal_palate_morphology0.83929233
107MP0000163_abnormal_cartilage_morphology0.83106318
108MP0005621_abnormal_cell_physiology0.81830232
109MP0005390_skeleton_phenotype0.81550461
110MP0003935_abnormal_craniofacial_develop0.81450346
111MP0001915_intracranial_hemorrhage0.81383358
112MP0002086_abnormal_extraembryonic_tissu0.81208156
113MP0000681_abnormal_thyroid_gland0.80366846
114* MP0002114_abnormal_axial_skeleton0.79567512
115MP0000678_abnormal_parathyroid_gland0.79018492
116MP0005058_abnormal_lysosome_morphology0.78649038
117MP0003283_abnormal_digestive_organ0.78537254
118MP0004510_myositis0.78522465
119MP0005084_abnormal_gallbladder_morpholo0.77251758
120MP0003937_abnormal_limbs/digits/tail_de0.76610839
121MP0000350_abnormal_cell_proliferation0.76490727
122MP0002128_abnormal_blood_circulation0.76378011
123MP0004957_abnormal_blastocyst_morpholog0.76152939
124MP0003448_altered_tumor_morphology0.75273770
125MP0004133_heterotaxia0.75264554
126MP0005380_embryogenesis_phenotype0.75004011
127MP0001672_abnormal_embryogenesis/_devel0.75004011
128MP0002084_abnormal_developmental_patter0.74196306
129MP0008057_abnormal_DNA_replication0.73694847
130MP0005584_abnormal_enzyme/coenzyme_acti0.73508451
131MP0002113_abnormal_skeleton_development0.72902142
132MP0002168_other_aberrant_phenotype0.72372644
133MP0002115_abnormal_skeleton_extremities0.70858660
134MP0001697_abnormal_embryo_size0.70412235
135MP0002933_joint_inflammation0.69658915
136MP0005647_abnormal_sex_gland0.69257250
137MP0002116_abnormal_craniofacial_bone0.69220822
138MP0002078_abnormal_glucose_homeostasis0.68756651
139MP0002177_abnormal_outer_ear0.67546994
140MP0002932_abnormal_joint_morphology0.66468729
141MP0005266_abnormal_metabolism0.66380183
142MP0003119_abnormal_digestive_system0.66015424
143MP0002928_abnormal_bile_duct0.65783489
144MP0002088_abnormal_embryonic_growth/wei0.65278007
145MP0002396_abnormal_hematopoietic_system0.65164771
146MP0001175_abnormal_lung_morphology0.64972607
147MP0001270_distended_abdomen0.63901082
148MP0005023_abnormal_wound_healing0.63727363
149MP0010386_abnormal_urinary_bladder0.63633807
150MP0000639_abnormal_adrenal_gland0.63405261
151MP0002697_abnormal_eye_size0.63244311
152MP0003984_embryonic_growth_retardation0.62826198
153MP0002080_prenatal_lethality0.60710099
154MP0009642_abnormal_blood_homeostasis0.60653742
155MP0001849_ear_inflammation0.60079966
156MP0009703_decreased_birth_body0.58437657
157MP0002092_abnormal_eye_morphology0.57375565
158MP0010234_abnormal_vibrissa_follicle0.57121852
159MP0002085_abnormal_embryonic_tissue0.56966276
160MP0010030_abnormal_orbit_morphology0.55661202
161MP0000477_abnormal_intestine_morphology0.55382516
162MP0008469_abnormal_protein_level0.52932866
163MP0000537_abnormal_urethra_morphology0.52670751
164MP0003718_maternal_effect0.52463089
165MP0001293_anophthalmia0.52185415
166MP0001119_abnormal_female_reproductive0.51129977
167MP0003942_abnormal_urinary_system0.50745569
168MP0001944_abnormal_pancreas_morphology0.48846208
169MP0003787_abnormal_imprinting0.48541948
170MP0003693_abnormal_embryo_hatching0.48339424
171MP0003699_abnormal_female_reproductive0.46357208
172MP0002938_white_spotting0.45820587
173MP0003115_abnormal_respiratory_system0.45144673
174MP0003567_abnormal_fetal_cardiomyocyte0.44905844
175MP0002269_muscular_atrophy0.44391025

Predicted human phenotypes

RankGene SetZ-score
1Protrusio acetabuli (HP:0003179)7.68142922
2Abnormality of aromatic amino acid family metabolism (HP:0004338)7.17535111
3Deep venous thrombosis (HP:0002625)6.65249602
4Intrahepatic cholestasis (HP:0001406)6.58893963
5Hypobetalipoproteinemia (HP:0003563)6.28646215
6Abnormality of monocarboxylic acid metabolism (HP:0010996)6.26046222
7Premature rupture of membranes (HP:0001788)6.17891186
8Xanthomatosis (HP:0000991)4.96559636
9Prolonged partial thromboplastin time (HP:0003645)4.89728569
10Ankle contracture (HP:0006466)4.52981363
11Aortic aneurysm (HP:0004942)4.20390564
12Abnormality of pyrimidine metabolism (HP:0004353)4.05180997
13Hypolipoproteinemia (HP:0010981)4.04489865
14Hyperlipoproteinemia (HP:0010980)4.02228396
15Vascular tortuosity (HP:0004948)4.00219112
16Hyperglycinemia (HP:0002154)3.89595193
17Cervical subluxation (HP:0003308)3.86655163
18Abnormality of the common coagulation pathway (HP:0010990)3.86346268
19Spinal rigidity (HP:0003306)3.85646594
20Epidermoid cyst (HP:0200040)3.73398631
21Broad metatarsal (HP:0001783)3.71684660
22Wormian bones (HP:0002645)3.64456805
23Arterial tortuosity (HP:0005116)3.59036233
24Hemorrhage of the eye (HP:0011885)3.57845146
25Abnormality of sulfur amino acid metabolism (HP:0004339)3.57636483
26Sparse lateral eyebrow (HP:0005338)3.56975234
27Hypercholesterolemia (HP:0003124)3.56205179
28Vertebral compression fractures (HP:0002953)3.53672129
29Hypoglycemic coma (HP:0001325)3.53362544
30Abnormality of the level of lipoprotein cholesterol (HP:0010979)3.51255056
31Hyperammonemia (HP:0001987)3.49016858
32Complement deficiency (HP:0004431)3.48449565
33Fat malabsorption (HP:0002630)3.44455811
34Spastic diplegia (HP:0001264)3.43608287
35Shallow orbits (HP:0000586)3.36429349
36Genu recurvatum (HP:0002816)3.34885324
37Joint hemorrhage (HP:0005261)3.34585740
38Hyperglycinuria (HP:0003108)3.34222993
39Coronal craniosynostosis (HP:0004440)3.33034341
40Abnormality of glycine metabolism (HP:0010895)3.28571881
41Abnormality of serine family amino acid metabolism (HP:0010894)3.28571881
42Bladder diverticulum (HP:0000015)3.27584960
43Ketosis (HP:0001946)3.25610448
44Aortic dissection (HP:0002647)3.25357262
45Abnormality of glutamine family amino acid metabolism (HP:0010902)3.24573603
46Abnormality of the intrinsic pathway (HP:0010989)3.22465607
47Abnormality of methionine metabolism (HP:0010901)3.20588636
48Soft skin (HP:0000977)3.15912198
49Follicular hyperkeratosis (HP:0007502)3.13732112
50Wrist flexion contracture (HP:0001239)3.11451577
51Hypochromic microcytic anemia (HP:0004840)3.08462136
52Breast hypoplasia (HP:0003187)3.07721996
53Conjugated hyperbilirubinemia (HP:0002908)3.07335904
54Abnormality of aspartate family amino acid metabolism (HP:0010899)3.06186320
55Blue sclerae (HP:0000592)2.98959542
56Hyperglycemia (HP:0003074)2.98172584
57Slender build (HP:0001533)2.93131620
58Hypoalphalipoproteinemia (HP:0003233)2.86868874
59Microcytic anemia (HP:0001935)2.80358765
60Overgrowth (HP:0001548)2.79679268
61Type 1 muscle fiber predominance (HP:0003803)2.78088020
62Hepatoblastoma (HP:0002884)2.76094518
63Hepatocellular carcinoma (HP:0001402)2.75701980
64Spondylolisthesis (HP:0003302)2.74454230
65Delayed CNS myelination (HP:0002188)2.67980606
66Atrophic scars (HP:0001075)2.67386730
67Hyperbilirubinemia (HP:0002904)2.66263244
68Natal tooth (HP:0000695)2.66207440
69Abnormality of the pancreatic islet cells (HP:0006476)2.65630052
70Abnormality of endocrine pancreas physiology (HP:0012093)2.65630052
71Fragile skin (HP:0001030)2.64048763
72Abnormality of the acetabulum (HP:0003170)2.62222768
73Ulnar bowing (HP:0003031)2.62133148
74Achilles tendon contracture (HP:0001771)2.56115565
75Elbow flexion contracture (HP:0002987)2.55819873
76Abnormality of dentin (HP:0010299)2.52523092
77Joint laxity (HP:0001388)2.52338378
78Bowel diverticulosis (HP:0005222)2.51919421
79Thrombophlebitis (HP:0004418)2.51468518
80Increased connective tissue (HP:0009025)2.47795999
81Abnormality of nucleobase metabolism (HP:0010932)2.46550815
82Long eyelashes (HP:0000527)2.46246340
83Abnormality of complement system (HP:0005339)2.43875504
84Osteolytic defects of the phalanges of the hand (HP:0009771)2.41568914
85Osteolytic defects of the hand bones (HP:0009699)2.41568914
86Dilatation of the ascending aorta (HP:0005111)2.39873484
87Neonatal short-limb short stature (HP:0008921)2.38925179
88Delayed closure of the anterior fontanelle (HP:0001476)2.38484398
89Delayed cranial suture closure (HP:0000270)2.34947188
90Increased variability in muscle fiber diameter (HP:0003557)2.34022742
91Steatorrhea (HP:0002570)2.33930500
92Hypoglycemic seizures (HP:0002173)2.33331152
93Hyperacusis (HP:0010780)2.32495211
94Abnormal pancreas size (HP:0012094)2.31146250
95Generalized amyotrophy (HP:0003700)2.29961356
96Pulmonary embolism (HP:0002204)2.28368153
97Mitral regurgitation (HP:0001653)2.27951040
98Aplasia of the musculature (HP:0100854)2.27682050
99Chronic hepatic failure (HP:0100626)2.26445902
100Joint stiffness (HP:0001387)2.26357184
101Disproportionate tall stature (HP:0001519)2.25675158
102Hypoventilation (HP:0002791)2.25275026
103Hyperinsulinemic hypoglycemia (HP:0000825)2.24616701
104Entropion (HP:0000621)2.23355204
105Partial duplication of the phalanx of hand (HP:0009999)2.23220563
106Enlarged kidneys (HP:0000105)2.22373851
107Abnormality of the Achilles tendon (HP:0005109)2.20187555
108Ependymoma (HP:0002888)2.19903374
109Malnutrition (HP:0004395)2.19608764
110Mildly elevated creatine phosphokinase (HP:0008180)2.18230363
111Short nail (HP:0001799)2.18014157
112Neoplasm of the liver (HP:0002896)2.17803551
113Short clavicles (HP:0000894)2.16523035
114Skin nodule (HP:0200036)2.15200891
115Abnormality of serum amino acid levels (HP:0003112)2.14519667
116Pseudobulbar signs (HP:0002200)2.13981738
117Syringomyelia (HP:0003396)2.13575565
118Spinal cord lesions (HP:0100561)2.13575565
119Cutaneous melanoma (HP:0012056)2.11650542
120Abnormality of the lower motor neuron (HP:0002366)2.10468166
121Right ventricular cardiomyopathy (HP:0011663)2.10221060
122Pancreatic islet-cell hyperplasia (HP:0004510)2.10162499
123Aortic regurgitation (HP:0001659)2.09977404
124Cortical dysplasia (HP:0002539)2.09818183
125Abnormality of the phalanges of the hallux (HP:0010057)2.09587774
126Absent frontal sinuses (HP:0002688)2.09584251
127Abnormality of fatty-acid metabolism (HP:0004359)2.08138822
128Nonimmune hydrops fetalis (HP:0001790)2.07358076
129Abnormality of long-chain fatty-acid metabolism (HP:0010964)2.06640377
130Aortic valve stenosis (HP:0001650)2.05872805
131Myocardial infarction (HP:0001658)2.05772073
132Ketoacidosis (HP:0001993)2.05597189
133Generalized aminoaciduria (HP:0002909)2.05212864
134Esophageal varix (HP:0002040)2.04566269
135Reduced subcutaneous adipose tissue (HP:0003758)2.02527872
136Abnormal cartilage morphology (HP:0002763)2.01800351
137Abnormality of skeletal muscle fiber size (HP:0012084)2.01775531
138Coxa vara (HP:0002812)2.01525458
139Spontaneous abortion (HP:0005268)1.99796471
140Persistence of primary teeth (HP:0006335)1.99226551
141Aneurysm (HP:0002617)1.98646768
142Abnormal ossification of hand bones (HP:0005921)1.97491391
143Abnormal delivery (HP:0001787)1.96974166
144Hyperextensible skin (HP:0000974)1.96639973
145Wide anterior fontanel (HP:0000260)1.96476230
146Aplasia/Hypoplasia of the clavicles (HP:0006710)1.96138510
147Renal duplication (HP:0000075)1.96034555
148Cerebral aneurysm (HP:0004944)1.95661799
149Cardiovascular calcification (HP:0011915)1.94714479
150Abnormality of carpal bone ossification (HP:0006257)1.93569341
151Trismus (HP:0000211)1.91735505
152Mitral valve prolapse (HP:0001634)1.88595537
153Aplasia/Hypoplasia of the frontal sinuses (HP:0009119)1.88012622
154Irritability (HP:0000737)1.86458377
155Opisthotonus (HP:0002179)1.85595853
156Neonatal onset (HP:0003623)1.85432286
157Flat cornea (HP:0007720)1.85066163
158Brushfield spots (HP:0001088)1.84250644
159Camptodactyly of toe (HP:0001836)1.83662300
160Limb-girdle muscle weakness (HP:0003325)1.83515610
161Colon cancer (HP:0003003)1.83355699
162Abnormal biliary tract physiology (HP:0012439)1.83194024
163Bile duct proliferation (HP:0001408)1.83194024
164Abnormal tarsal ossification (HP:0008369)1.83139301
165Reticulocytosis (HP:0001923)1.82843879
166Lethargy (HP:0001254)1.82041382
167Protruding ear (HP:0000411)1.81153087
168Gout (HP:0001997)1.80570176
169Biconcave vertebral bodies (HP:0004586)1.80361276
170Deviation of the hallux (HP:0010051)1.80183791
171Narrow palate (HP:0000189)1.79659751
172Acanthocytosis (HP:0001927)1.79346128
173Cerebral edema (HP:0002181)1.79112877
174Back pain (HP:0003418)1.77176709
175Neonatal hypoglycemia (HP:0001998)1.76414192
176Rib fusion (HP:0000902)1.75418703
177Vascular calcification (HP:0004934)1.75337918
178Upper limb amyotrophy (HP:0009129)1.74473928
179Distal upper limb amyotrophy (HP:0007149)1.74473928
180Inguinal hernia (HP:0000023)1.73024202
181Metabolic acidosis (HP:0001942)1.71688039
182Redundant skin (HP:0001582)1.70800694
183Mitral stenosis (HP:0001718)1.70501735
184Joint contractures involving the joints of the feet (HP:0100492)1.68772091
185Flexion contracture of toe (HP:0005830)1.68772091
186Ovoid vertebral bodies (HP:0003300)1.68090982
187Abnormality of purine metabolism (HP:0004352)1.67235724
188Increased number of teeth (HP:0011069)1.66360485
189Ectopia lentis (HP:0001083)1.66056386
190Distal lower limb amyotrophy (HP:0008944)1.63763469
191Ascites (HP:0001541)1.62850909
192Insidious onset (HP:0003587)1.61052087
193Termporal pattern (HP:0011008)1.61052087
194Late onset (HP:0003584)1.60903420
195Diastasis recti (HP:0001540)1.59687877
196Acute hepatic failure (HP:0006554)1.58069807
197Impulsivity (HP:0100710)1.57205781
198Poikilocytosis (HP:0004447)1.54060811
199Increased mean platelet volume (HP:0011877)1.52833050

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK8.10324531
2ERN14.29318807
3LATS13.49498331
4TIE12.92546607
5FGFR42.66444530
6BRD42.64256794
7NEK92.56315163
8TGFBR22.46098058
9MAP3K102.45402509
10SMG12.37160597
11FLT32.26536937
12MYLK2.23978520
13CDK122.14980237
14RPS6KB22.14608482
15PRKD22.10163928
16PKN22.04687384
17NTRK11.98997966
18PASK1.97249023
19BUB11.83812283
20INSRR1.77364048
21SIK11.76326446
22PRPF4B1.70731793
23PTK2B1.66913955
24LIMK11.65115634
25EPHA21.61109571
26DYRK31.58950301
27DDR21.57411475
28STK381.55187905
29STK101.52254023
30TTN1.51817171
31TTK1.45807727
32EEF2K1.45586027
33CDK61.43298640
34CDK81.39972864
35PIM21.39096196
36EPHB21.38508178
37MOS1.29337133
38TYK21.28592460
39CDK41.28016891
40EIF2AK31.25929095
41MTOR1.24958593
42ERBB41.24211874
43TAOK31.14491658
44TESK11.14386405
45NEK21.10186326
46RIPK11.07313958
47MAP3K81.06393336
48MAP4K11.05146439
49PRKG21.04106437
50RPS6KA41.03615519
51PDGFRA1.03249563
52MAPK111.02826063
53RPS6KA21.02560614
54RPS6KL10.99328413
55RPS6KC10.99328413
56PRKD30.97749494
57PTK20.93345933
58MET0.93178497
59TRIB30.89383286
60CHEK20.88168898
61CDC42BPA0.88087794
62CDC70.87726868
63RPS6KA60.84613954
64PAK60.84305090
65GRK60.83136901
66LATS20.82637251
67ATR0.80578253
68STK40.79137038
69MAPK70.78834834
70PLK10.77356735
71NUAK10.75413602
72NEK10.74411352
73NME20.74315550
74BRSK10.72860834
75JAK30.72104706
76ABL20.71815408
77DAPK30.71689383
78MAP3K30.70411787
79STK38L0.69225626
80IRAK30.68541112
81CDK70.64263891
82MAP3K60.63664290
83CHEK10.62715238
84CAMK40.62466696
85BMX0.60751184
86PLK40.60197951
87EPHA30.58791114
88CDK20.58726807
89PAK10.57829471
90STK30.56579070
91TESK20.56550631
92CSNK1D0.55354189
93CDK90.54521112
94MST1R0.53150737
95TAOK20.52866112
96SGK30.52858576
97ATM0.52586481
98AURKB0.52565276
99TAOK10.52462893
100SGK20.52210505
101TSSK60.50426110
102PTK60.49742311
103JAK10.49615643
104HIPK20.49578929
105DAPK20.49122280
106TRPM70.48781445
107FGFR30.48776116
108FGFR20.48700276
109PAK20.47764886
110ROCK20.47616471
111EPHB10.47236271
112RPS6KA10.46628657
113WEE10.45936408
114TGFBR10.45916582
115PAK40.45023265
116ERBB20.44514848
117GSK3A0.43869764
118ALK0.43607927
119LRRK20.43329261
120PRKCH0.42797712
121CDK10.42791735
122DYRK1B0.42759948
123VRK20.42255703
124CSNK1E0.42246497
125PDGFRB0.42000036
126PIK3CG0.41915495
127MAP2K40.41515511
128MAP3K70.41347596
129ZAP700.41189388
130PRKD10.40502345
131MAPKAPK20.40306658
132ROCK10.40083220
133AKT30.39348390
134SCYL20.38693556
135PIM10.38210603
136MELK0.37975165
137CHUK0.37175988
138ILK0.37079676
139MAP3K110.36661237
140JAK20.36651647
141BRSK20.36028143
142MAPK10.34894576
143IGF1R0.34448860
144ICK0.33907426
145AURKA0.33808987
146CSNK2A20.33769221
147MAP2K30.32406586
148RET0.32207747
149FGFR10.31901129
150MAPKAPK30.29498242
151RAF10.28999106
152MARK20.28671884

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.08846460
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.90527264
3Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005323.55604098
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.34503850
5Arginine biosynthesis_Homo sapiens_hsa002203.13094783
6Nitrogen metabolism_Homo sapiens_hsa009103.03563755
7ECM-receptor interaction_Homo sapiens_hsa045122.97286448
8Glycosaminoglycan degradation_Homo sapiens_hsa005312.71430132
9Tryptophan metabolism_Homo sapiens_hsa003802.63885314
10Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.44639246
11Selenocompound metabolism_Homo sapiens_hsa004502.39640924
12Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.35026899
13Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.34265043
14Focal adhesion_Homo sapiens_hsa045102.28730495
15Complement and coagulation cascades_Homo sapiens_hsa046102.23320796
16Drug metabolism - other enzymes_Homo sapiens_hsa009832.20375632
17Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002502.12755393
18Fatty acid degradation_Homo sapiens_hsa000712.10224680
19Pentose and glucuronate interconversions_Homo sapiens_hsa000402.00173198
20Proteoglycans in cancer_Homo sapiens_hsa052051.99687754
212-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.94872897
22One carbon pool by folate_Homo sapiens_hsa006701.94442226
23Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.92953177
24Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.91596637
25MicroRNAs in cancer_Homo sapiens_hsa052061.86569388
26Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.84488107
27AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.76462409
28Butanoate metabolism_Homo sapiens_hsa006501.76118243
29Melanoma_Homo sapiens_hsa052181.74911211
30Peroxisome_Homo sapiens_hsa041461.74788394
31Maturity onset diabetes of the young_Homo sapiens_hsa049501.74439586
32Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.73486761
33Steroid hormone biosynthesis_Homo sapiens_hsa001401.69856770
34p53 signaling pathway_Homo sapiens_hsa041151.68696715
35Chronic myeloid leukemia_Homo sapiens_hsa052201.67523171
36Other glycan degradation_Homo sapiens_hsa005111.66590057
37Chemical carcinogenesis_Homo sapiens_hsa052041.65383870
38Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.63561870
39Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.62834604
40Biosynthesis of amino acids_Homo sapiens_hsa012301.61085573
41ABC transporters_Homo sapiens_hsa020101.60917699
42Hippo signaling pathway_Homo sapiens_hsa043901.60895193
43Small cell lung cancer_Homo sapiens_hsa052221.58509910
44Caffeine metabolism_Homo sapiens_hsa002321.55377250
45Phenylalanine metabolism_Homo sapiens_hsa003601.51113674
46Fatty acid metabolism_Homo sapiens_hsa012121.45776264
47Adherens junction_Homo sapiens_hsa045201.45215808
48Cysteine and methionine metabolism_Homo sapiens_hsa002701.43718536
49PPAR signaling pathway_Homo sapiens_hsa033201.43142845
50Regulation of actin cytoskeleton_Homo sapiens_hsa048101.42595907
51Histidine metabolism_Homo sapiens_hsa003401.41549623
52TGF-beta signaling pathway_Homo sapiens_hsa043501.39718807
53Tyrosine metabolism_Homo sapiens_hsa003501.36289877
54PI3K-Akt signaling pathway_Homo sapiens_hsa041511.36242214
55beta-Alanine metabolism_Homo sapiens_hsa004101.34800063
56Retinol metabolism_Homo sapiens_hsa008301.34407084
57Folate biosynthesis_Homo sapiens_hsa007901.30525808
58Lysine degradation_Homo sapiens_hsa003101.29669723
59Bile secretion_Homo sapiens_hsa049761.28210941
60Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.28079372
61Propanoate metabolism_Homo sapiens_hsa006401.27597338
62Vitamin B6 metabolism_Homo sapiens_hsa007501.27129604
63N-Glycan biosynthesis_Homo sapiens_hsa005101.23573661
64Pancreatic cancer_Homo sapiens_hsa052121.18072438
65Viral carcinogenesis_Homo sapiens_hsa052031.13978675
66Pathways in cancer_Homo sapiens_hsa052001.13654251
67Carbon metabolism_Homo sapiens_hsa012001.13031640
68Protein digestion and absorption_Homo sapiens_hsa049741.11172746
69Prostate cancer_Homo sapiens_hsa052151.10778448
70Pyruvate metabolism_Homo sapiens_hsa006201.09575877
71Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.09136252
72Staphylococcus aureus infection_Homo sapiens_hsa051501.08550023
73Thyroid cancer_Homo sapiens_hsa052161.03452736
74Alcoholism_Homo sapiens_hsa050341.02930016
75Hepatitis B_Homo sapiens_hsa051611.02131754
76Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.01335908
77Dilated cardiomyopathy_Homo sapiens_hsa054140.99587830
78Hedgehog signaling pathway_Homo sapiens_hsa043400.98100538
79Fat digestion and absorption_Homo sapiens_hsa049750.97496249
80* HTLV-I infection_Homo sapiens_hsa051660.95329304
81Amoebiasis_Homo sapiens_hsa051460.93741548
82Glioma_Homo sapiens_hsa052140.92389982
83Shigellosis_Homo sapiens_hsa051310.92076418
84Rap1 signaling pathway_Homo sapiens_hsa040150.91935403
85Starch and sucrose metabolism_Homo sapiens_hsa005000.89730369
86Melanogenesis_Homo sapiens_hsa049160.89314564
87Arginine and proline metabolism_Homo sapiens_hsa003300.88434078
88Wnt signaling pathway_Homo sapiens_hsa043100.87586223
89Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.86880990
90Apoptosis_Homo sapiens_hsa042100.85537773
91Cyanoamino acid metabolism_Homo sapiens_hsa004600.85217428
92Leukocyte transendothelial migration_Homo sapiens_hsa046700.83676667
93Steroid biosynthesis_Homo sapiens_hsa001000.81838585
94Fatty acid elongation_Homo sapiens_hsa000620.80736393
95Colorectal cancer_Homo sapiens_hsa052100.78063603
96Gap junction_Homo sapiens_hsa045400.76044045
97Notch signaling pathway_Homo sapiens_hsa043300.75623128
98Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.75509511
99mRNA surveillance pathway_Homo sapiens_hsa030150.75147066
100Sulfur metabolism_Homo sapiens_hsa009200.74787213
101Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.70312325
102Axon guidance_Homo sapiens_hsa043600.70061402
103VEGF signaling pathway_Homo sapiens_hsa043700.67547969
104Non-small cell lung cancer_Homo sapiens_hsa052230.67342829
105Renin-angiotensin system_Homo sapiens_hsa046140.67103100
106Thyroid hormone signaling pathway_Homo sapiens_hsa049190.65932502
107TNF signaling pathway_Homo sapiens_hsa046680.65083651
108Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.63880410
109Ubiquitin mediated proteolysis_Homo sapiens_hsa041200.63185771
110Ras signaling pathway_Homo sapiens_hsa040140.62140547
111Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.61992481
112Neurotrophin signaling pathway_Homo sapiens_hsa047220.61799611
113Acute myeloid leukemia_Homo sapiens_hsa052210.61665787
114Lysosome_Homo sapiens_hsa041420.61025606
115Phospholipase D signaling pathway_Homo sapiens_hsa040720.58722252
116Endocytosis_Homo sapiens_hsa041440.58375725
117MAPK signaling pathway_Homo sapiens_hsa040100.57634006
118Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.53621191
119Mismatch repair_Homo sapiens_hsa034300.53350240
120Transcriptional misregulation in cancer_Homo sapiens_hsa052020.53074674
121Pentose phosphate pathway_Homo sapiens_hsa000300.52982158
122Sphingolipid signaling pathway_Homo sapiens_hsa040710.52247733
123Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.51196421
124Glycerolipid metabolism_Homo sapiens_hsa005610.50279185
125GnRH signaling pathway_Homo sapiens_hsa049120.49627765
126Vitamin digestion and absorption_Homo sapiens_hsa049770.49347374
127Endometrial cancer_Homo sapiens_hsa052130.48748804
128Insulin resistance_Homo sapiens_hsa049310.48406007
129Tight junction_Homo sapiens_hsa045300.48031298
130Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.47712918
131Non-homologous end-joining_Homo sapiens_hsa034500.47505949
132Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.46528803
133Renal cell carcinoma_Homo sapiens_hsa052110.45920217
134ErbB signaling pathway_Homo sapiens_hsa040120.44795773
135RNA transport_Homo sapiens_hsa030130.44259171
136Estrogen signaling pathway_Homo sapiens_hsa049150.43217333
137Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.43105554
138Sulfur relay system_Homo sapiens_hsa041220.42638228
139cGMP-PKG signaling pathway_Homo sapiens_hsa040220.42417998
140Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.42294639
141DNA replication_Homo sapiens_hsa030300.40817352
142RNA degradation_Homo sapiens_hsa030180.40300388
143Fructose and mannose metabolism_Homo sapiens_hsa000510.39655604
144Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.39497713
145Glutathione metabolism_Homo sapiens_hsa004800.36191214
146Glucagon signaling pathway_Homo sapiens_hsa049220.32501724
147Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.31177320
148Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.29061502
149Galactose metabolism_Homo sapiens_hsa000520.28999221
150Cell cycle_Homo sapiens_hsa041100.28221825
151Metabolic pathways_Homo sapiens_hsa011000.27313630
152Bladder cancer_Homo sapiens_hsa052190.26930679
153Adipocytokine signaling pathway_Homo sapiens_hsa049200.24149288
154Fatty acid biosynthesis_Homo sapiens_hsa000610.23398771
155Central carbon metabolism in cancer_Homo sapiens_hsa052300.23084687
156AMPK signaling pathway_Homo sapiens_hsa041520.22814984
157Nucleotide excision repair_Homo sapiens_hsa034200.20915311
158Pyrimidine metabolism_Homo sapiens_hsa002400.20760762
159Base excision repair_Homo sapiens_hsa034100.20268644
160Longevity regulating pathway - mammal_Homo sapiens_hsa042110.18903527
161Spliceosome_Homo sapiens_hsa030400.17326476
162Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.14943563
163Circadian rhythm_Homo sapiens_hsa047100.14826527
164Basal cell carcinoma_Homo sapiens_hsa052170.14741952
165Prion diseases_Homo sapiens_hsa050200.13610880
166Systemic lupus erythematosus_Homo sapiens_hsa053220.10195944
167Glycerophospholipid metabolism_Homo sapiens_hsa005640.10147615
168Linoleic acid metabolism_Homo sapiens_hsa005910.09956686
169Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.09015890
170Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.07886421
171mTOR signaling pathway_Homo sapiens_hsa041500.06760117

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