ADRA1B

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: Alpha-1-adrenergic receptors (alpha-1-ARs) are members of the G protein-coupled receptor superfamily. They activate mitogenic responses and regulate growth and proliferation of many cells. There are 3 alpha-1-AR subtypes: alpha-1A, -1B and -1D, all of which signal through the Gq/11 family of G-proteins and different subtypes show different patterns of activation. This gene encodes alpha-1B-adrenergic receptor, which induces neoplastic transformation when transfected into NIH 3T3 fibroblasts and other cell lines. Thus, this normal cellular gene is identified as a protooncogene. This gene comprises 2 exons and a single large intron of at least 20 kb that interrupts the coding region. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1L-phenylalanine catabolic process (GO:0006559)7.38653093
2erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.38653093
3L-phenylalanine metabolic process (GO:0006558)7.04362645
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.04362645
5aromatic amino acid family catabolic process (GO:0009074)6.61091924
6synaptic vesicle docking involved in exocytosis (GO:0016081)6.16191796
7triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.11896845
8kynurenine metabolic process (GO:0070189)6.03904493
9indole-containing compound catabolic process (GO:0042436)6.03210774
10indolalkylamine catabolic process (GO:0046218)6.03210774
11tryptophan catabolic process (GO:0006569)6.03210774
12bile acid biosynthetic process (GO:0006699)5.70809179
13tryptophan metabolic process (GO:0006568)5.62260440
14glyoxylate metabolic process (GO:0046487)5.62133152
15alpha-linolenic acid metabolic process (GO:0036109)5.44282327
16negative regulation of fibrinolysis (GO:0051918)5.31724818
17high-density lipoprotein particle remodeling (GO:0034375)5.27941394
18regulation of fibrinolysis (GO:0051917)5.20284150
19urea metabolic process (GO:0019627)5.15617281
20urea cycle (GO:0000050)5.15617281
21peptidyl-glutamic acid carboxylation (GO:0017187)5.05829729
22protein carboxylation (GO:0018214)5.05829729
23regulation of protein activation cascade (GO:2000257)5.01854332
24complement activation, alternative pathway (GO:0006957)4.93585226
25cysteine metabolic process (GO:0006534)4.93310931
26sulfur amino acid catabolic process (GO:0000098)4.92327058
27aromatic amino acid family metabolic process (GO:0009072)4.89346491
28bile acid metabolic process (GO:0008206)4.86393521
29hemidesmosome assembly (GO:0031581)4.81227667
30serine family amino acid catabolic process (GO:0009071)4.78638608
31fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.76419562
32nitrogen cycle metabolic process (GO:0071941)4.74944062
33coenzyme catabolic process (GO:0009109)4.68108874
34regulation of complement activation (GO:0030449)4.66120342
35regulation of triglyceride catabolic process (GO:0010896)4.64107490
36cellular ketone body metabolic process (GO:0046950)4.63607227
37regulation of cholesterol esterification (GO:0010872)4.59127153
38alpha-amino acid catabolic process (GO:1901606)4.58682628
39glutamate secretion (GO:0014047)4.57948335
40tyrosine metabolic process (GO:0006570)4.56512490
41reverse cholesterol transport (GO:0043691)4.56375201
42lysine catabolic process (GO:0006554)4.55515167
43lysine metabolic process (GO:0006553)4.55515167
44indolalkylamine metabolic process (GO:0006586)4.55073564
45triglyceride homeostasis (GO:0070328)4.50527085
46acylglycerol homeostasis (GO:0055090)4.50527085
47macromolecular complex remodeling (GO:0034367)4.49745122
48plasma lipoprotein particle remodeling (GO:0034369)4.49745122
49protein-lipid complex remodeling (GO:0034368)4.49745122
50glutamate metabolic process (GO:0006536)4.45398751
51amino-acid betaine metabolic process (GO:0006577)4.40906862
52homocysteine metabolic process (GO:0050667)4.39781167
53protein localization to endosome (GO:0036010)4.30671253
54negative regulation of sterol transport (GO:0032372)4.30067794
55negative regulation of cholesterol transport (GO:0032375)4.30067794
56phospholipid efflux (GO:0033700)4.24563575
57bile acid and bile salt transport (GO:0015721)4.22883858
58imidazole-containing compound metabolic process (GO:0052803)4.22692834
59cellular amino acid catabolic process (GO:0009063)4.21916129
60cellular biogenic amine catabolic process (GO:0042402)4.18212472
61amine catabolic process (GO:0009310)4.18212472
62cytoskeletal anchoring at plasma membrane (GO:0007016)4.16618291
63dicarboxylic acid biosynthetic process (GO:0043650)4.12844380
64ethanol oxidation (GO:0006069)4.12818725
65plasma lipoprotein particle clearance (GO:0034381)4.11890411
66benzene-containing compound metabolic process (GO:0042537)4.03669097
67cellular modified amino acid catabolic process (GO:0042219)4.01315545
68cellular glucuronidation (GO:0052695)4.00287496
69ketone body metabolic process (GO:1902224)4.00168376
70cholesterol efflux (GO:0033344)3.97153608
71glycine metabolic process (GO:0006544)3.95585495
72type B pancreatic cell proliferation (GO:0044342)3.93654332
73synaptic vesicle maturation (GO:0016188)3.91380642
74response to gravity (GO:0009629)3.90729796
75arginine metabolic process (GO:0006525)3.87327301
76cofactor catabolic process (GO:0051187)3.85579996
77short-chain fatty acid metabolic process (GO:0046459)3.85168917
78regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.85133894
79acetyl-CoA metabolic process (GO:0006084)3.83291470
80serine family amino acid metabolic process (GO:0009069)3.79358080
81regulation of vascular endothelial growth factor signaling pathway (GO:1900746)3.79258338
82fibrinolysis (GO:0042730)3.78074043
83low-density lipoprotein particle remodeling (GO:0034374)3.76931654
84drug catabolic process (GO:0042737)3.76314613
85regulation of bile acid biosynthetic process (GO:0070857)3.73748050
86organic acid catabolic process (GO:0016054)3.70129939
87carboxylic acid catabolic process (GO:0046395)3.70129939
88plasma lipoprotein particle assembly (GO:0034377)3.69380981
89phospholipid homeostasis (GO:0055091)3.66786988
90negative regulation of lipase activity (GO:0060192)3.66479630
91aspartate family amino acid catabolic process (GO:0009068)3.65491124
92blood coagulation, intrinsic pathway (GO:0007597)3.63522130
93aldehyde catabolic process (GO:0046185)3.63352185
94positive regulation of lipid catabolic process (GO:0050996)3.61519363
95very-low-density lipoprotein particle assembly (GO:0034379)3.60963940
96mesodermal cell differentiation (GO:0048333)3.59197866
972-oxoglutarate metabolic process (GO:0006103)3.59018543
98barbed-end actin filament capping (GO:0051016)3.58379803
99cell-substrate junction assembly (GO:0007044)3.57251097
100serine family amino acid biosynthetic process (GO:0009070)3.56491922
101cholesterol homeostasis (GO:0042632)3.55033313
102complement activation, classical pathway (GO:0006958)3.54113605
103uronic acid metabolic process (GO:0006063)3.54086290
104glucuronate metabolic process (GO:0019585)3.54086290
105positive regulation of lipoprotein lipase activity (GO:0051006)3.52956222
106positive regulation of triglyceride lipase activity (GO:0061365)3.52956222
107regulation of short-term neuronal synaptic plasticity (GO:0048172)3.51501751
108opsonization (GO:0008228)3.51239008
109protein retention in ER lumen (GO:0006621)3.50862764
110protein activation cascade (GO:0072376)3.49938610
111regulation of cholesterol homeostasis (GO:2000188)3.49617861
112sterol homeostasis (GO:0055092)3.49159170
113NAD biosynthetic process (GO:0009435)3.48778079
114complement activation (GO:0006956)3.48141252
115monocarboxylic acid catabolic process (GO:0072329)3.48063481
116sodium ion export (GO:0071436)3.42410153
117cell adhesion mediated by integrin (GO:0033627)3.37063298
118skin morphogenesis (GO:0043589)3.34920227
119maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.32583973
120activation of Rac GTPase activity (GO:0032863)3.27375704
121protein targeting to plasma membrane (GO:0072661)3.24935589
122Golgi transport vesicle coating (GO:0048200)3.18929710
123COPI coating of Golgi vesicle (GO:0048205)3.18929710
124extracellular fibril organization (GO:0043206)3.15903747
125neuronal ion channel clustering (GO:0045161)3.14981858
126cellular potassium ion homeostasis (GO:0030007)3.09646444
127negative regulation of dendrite morphogenesis (GO:0050774)3.07520136
128negative regulation of chondrocyte differentiation (GO:0032331)3.04319949
129focal adhesion assembly (GO:0048041)2.93821220
130cell-substrate adherens junction assembly (GO:0007045)2.93821220
131synaptic vesicle exocytosis (GO:0016079)2.93394299
132desmosome organization (GO:0002934)2.92567784
133stress fiber assembly (GO:0043149)2.91437580
134adherens junction assembly (GO:0034333)2.88138543
135endodermal cell differentiation (GO:0035987)2.84207288
136substrate-dependent cell migration (GO:0006929)2.83088938
137positive regulation of osteoblast proliferation (GO:0033690)2.82035061
138axon extension (GO:0048675)2.78659459
139membrane raft organization (GO:0031579)2.77586091
140endothelial cell morphogenesis (GO:0001886)2.75978617
141apoptotic cell clearance (GO:0043277)2.75370052
142layer formation in cerebral cortex (GO:0021819)2.74030003
143protein maturation by protein folding (GO:0022417)2.74001501
144semaphorin-plexin signaling pathway (GO:0071526)2.73864085
145kidney mesenchyme development (GO:0072074)2.73602060
146negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.72016736
147regulation of plasminogen activation (GO:0010755)2.71552374
148basement membrane organization (GO:0071711)2.70574263
149epithelial cell-cell adhesion (GO:0090136)2.68404741
150amino acid import (GO:0043090)2.68351806
151protein heterotrimerization (GO:0070208)2.67516076
152fibril organization (GO:0097435)2.65643586
153regulation of early endosome to late endosome transport (GO:2000641)2.65287611
154extracellular matrix assembly (GO:0085029)2.64393927
155neuron projection extension (GO:1990138)2.62877943
156negative regulation of fatty acid transport (GO:2000192)2.62756810
157cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.60080593
158positive regulation of axon extension (GO:0045773)2.59974795
159protein hydroxylation (GO:0018126)2.58485123
160positive regulation of establishment of protein localization to plasma membrane (GO:0090004)2.57329609
161muscle cell migration (GO:0014812)2.57222289
162cellular copper ion homeostasis (GO:0006878)2.56362507
163cortical actin cytoskeleton organization (GO:0030866)2.55828638
164endocytic recycling (GO:0032456)2.55822893
165retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.54724950
166G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)2.54596980
167actin filament depolymerization (GO:0030042)2.52941994
168membrane assembly (GO:0071709)2.50465133
169peptidyl-proline hydroxylation (GO:0019511)2.50415123
170regulation of synaptic vesicle exocytosis (GO:2000300)2.49001726
171negative regulation of catenin import into nucleus (GO:0035414)2.46787525
172positive regulation of vesicle fusion (GO:0031340)2.43209707
173positive regulation of endothelial cell apoptotic process (GO:2000353)2.42915199
174dendritic spine organization (GO:0097061)2.42894421
175positive regulation of blood vessel endothelial cell migration (GO:0043536)2.42818877
176positive regulation of protein localization to plasma membrane (GO:1903078)2.41078037
177cell communication by electrical coupling (GO:0010644)2.40899052
178locomotory exploration behavior (GO:0035641)2.39621579
179phosphate ion transmembrane transport (GO:0035435)2.37372021
180mating behavior (GO:0007617)2.35734850
181diaphragm development (GO:0060539)2.35726054
182regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.35700640
183cortical cytoskeleton organization (GO:0030865)2.34939691
184regulation of neuronal synaptic plasticity (GO:0048168)2.34437714
185establishment of protein localization to plasma membrane (GO:0090002)2.34329323
186negative regulation of smooth muscle cell migration (GO:0014912)2.33282997
187retina vasculature morphogenesis in camera-type eye (GO:0061299)2.32912718
188glial cell migration (GO:0008347)2.30119212
189metanephric mesenchyme development (GO:0072075)2.30029831
190negative regulation of synaptic transmission, GABAergic (GO:0032229)2.29182418
191protein localization to cell surface (GO:0034394)2.28375066
192L-serine transport (GO:0015825)2.26812567
193actin filament bundle assembly (GO:0051017)2.26421874
194actin filament bundle organization (GO:0061572)2.26421874
195positive regulation of receptor recycling (GO:0001921)2.26397302
196vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.26087604
197planar cell polarity pathway involved in neural tube closure (GO:0090179)2.26002156
198cell volume homeostasis (GO:0006884)2.25986759
199dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.25703208

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse7.47007596
2PPARA_22158963_ChIP-Seq_LIVER_Mouse6.32595867
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.08735738
4* LXR_22158963_ChIP-Seq_LIVER_Mouse5.83142570
5TP63_17297297_ChIP-ChIP_HaCaT_Human5.39478837
6FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.02867395
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.56684939
8CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.22220579
9NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.89243115
10TRIM28_21343339_ChIP-Seq_HEK293_Human3.62141745
11CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.19866251
12TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.96201309
13ELK3_25401928_ChIP-Seq_HUVEC_Human2.28549850
14* RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.21950966
15LXR_22292898_ChIP-Seq_THP-1_Human2.19966126
16EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse2.15804297
17* ESR1_17901129_ChIP-ChIP_LIVER_Mouse10.6559072
18WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.98063533
19TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.97623336
20UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.89872544
21TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.89390194
22ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.88794115
23RACK7_27058665_Chip-Seq_MCF-7_Human1.88366217
24NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.86531831
25KDM2B_26808549_Chip-Seq_SUP-B15_Human1.82603018
26KDM2B_26808549_Chip-Seq_K562_Human1.82005562
27TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.81218082
28TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.76728785
29KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.73091589
30P300_27058665_Chip-Seq_ZR-75-30cells_Human1.72583405
31HTT_18923047_ChIP-ChIP_STHdh_Human1.71832743
32ZFP281_18757296_ChIP-ChIP_E14_Mouse1.69126015
33SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.68075254
34KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.65792950
35FOXA2_19822575_ChIP-Seq_HepG2_Human1.55287706
36HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.54488998
37HIF1A_21447827_ChIP-Seq_MCF-7_Human1.49445313
38EZH2_18974828_ChIP-Seq_MESCs_Mouse1.48034856
39RNF2_18974828_ChIP-Seq_MESCs_Mouse1.48034856
40TET1_21490601_ChIP-Seq_MESCs_Mouse1.47615762
41SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.46835484
42* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.46459511
43ATF3_27146783_Chip-Seq_COLON_Human1.44860542
44* SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.42673916
45* SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.42673916
46* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human1.39002257
47ESR1_21235772_ChIP-Seq_MCF-7_Human1.38612258
48TP53_22127205_ChIP-Seq_IMR90_Human1.35637930
49ESRRB_18555785_ChIP-Seq_MESCs_Mouse1.35620410
50* SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.34473154
51RARB_27405468_Chip-Seq_BRAIN_Mouse1.33802863
52SRY_22984422_ChIP-ChIP_TESTIS_Rat1.33677853
53GATA2_21666600_ChIP-Seq_HMVEC_Human1.33142979
54* SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.32460017
55* SMC1_22415368_ChIP-Seq_MEFs_Mouse1.32375808
56THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.31607715
57TET1_21451524_ChIP-Seq_MESCs_Mouse1.30997094
58TP53_23651856_ChIP-Seq_MEFs_Mouse1.30942892
59* PPAR_26484153_Chip-Seq_NCI-H1993_Human1.30924727
60JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.28036821
61ZFP281_27345836_Chip-Seq_ESCs_Mouse1.27527780
62KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.26428093
63SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.25296995
64NFIB_24661679_ChIP-Seq_LUNG_Mouse1.25060646
65HNF4A_19822575_ChIP-Seq_HepG2_Human1.23583297
66PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.23206793
67JARID2_20075857_ChIP-Seq_MESCs_Mouse1.22092548
68UBF1/2_26484160_Chip-Seq_HMECs_Human1.21902323
69KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.20582553
70SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.18237710
71CJUN_26792858_Chip-Seq_BT549_Human1.18194136
72DACH1_20351289_ChIP-Seq_MDA-MB-231_Human1.18148417
73NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.17267261
74CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.17149538
75POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.16310544
76CLOCK_20551151_ChIP-Seq_293T_Human1.15538515
77SOX9_24532713_ChIP-Seq_HFSC_Mouse1.15336301
78EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.15281152
79TAF15_26573619_Chip-Seq_HEK293_Human1.14594293
80CDX2_20551321_ChIP-Seq_CACO-2_Human1.11886602
81JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.11399924
82ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.08535061
83NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.07073692
84* EZH2_27294783_Chip-Seq_ESCs_Mouse1.06606644
85PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.05864096
86CTCF_27219007_Chip-Seq_ERYTHROID_Human1.05636431
87SUZ12_27294783_Chip-Seq_ESCs_Mouse1.05537525
88SMC3_22415368_ChIP-Seq_MEFs_Mouse1.05360000
89P63_26484246_Chip-Seq_KERATINOCYTES_Human1.05038184
90RNF2_27304074_Chip-Seq_ESCs_Mouse1.02939455
91GATA1_22025678_ChIP-Seq_K562_Human1.02485333
92TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.02280101
93CTNNB1_20460455_ChIP-Seq_HCT116_Human1.02139668
94KDM2B_26808549_Chip-Seq_DND41_Human1.01721900
95RXRA_24833708_ChIP-Seq_LIVER_Mouse0.98311092
96GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.97537124
97BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.97343176
98ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.94917453
99AUTS2_25519132_ChIP-Seq_293T-REX_Human0.91596327
100NRF2_20460467_ChIP-Seq_MEFs_Mouse0.87778004
101NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.87778004
102GBX2_23144817_ChIP-Seq_PC3_Human0.84538282
103RARG_19884340_ChIP-ChIP_MEFs_Mouse0.78428934
104BCAT_22108803_ChIP-Seq_LS180_Human0.78153827
105ESR2_21235772_ChIP-Seq_MCF-7_Human0.77319523
106RAD21_21589869_ChIP-Seq_MESCs_Mouse0.72696261
107STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.72479411
108PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.72350506
109ESR1_20079471_ChIP-ChIP_T-47D_Human0.71076109
110ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.71017364
111PIAS1_25552417_ChIP-Seq_VCAP_Human0.70652156
112ERG_21242973_ChIP-ChIP_JURKAT_Human0.69973922
113ESR1_15608294_ChIP-ChIP_MCF-7_Human0.68687865
114ZNF263_19887448_ChIP-Seq_K562_Human0.66743385
115MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.66348490
116* SUZ12_18555785_ChIP-Seq_MESCs_Mouse0.65648702
117AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.65241994
118ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.62658244
119SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.62434969
120KAP1_22055183_ChIP-Seq_ESCs_Mouse0.62223707
121SOX2_27498859_Chip-Seq_STOMACH_Mouse0.61424106
122* SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.60516136
123CDX2_19796622_ChIP-Seq_MESCs_Mouse0.59845543
124BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.58883515
125CBP_21632823_ChIP-Seq_H3396_Human0.57585421
126AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human0.57503599
127IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.56482348
128* MTF2_20144788_ChIP-Seq_MESCs_Mouse0.56023962
129Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.55274190
130* CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse0.55212432
131SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.53612668
132RARA_24833708_ChIP-Seq_LIVER_Mouse0.52484297
133SMAD4_21741376_ChIP-Seq_HESCs_Human0.52454711
134EP300_21415370_ChIP-Seq_HL-1_Mouse0.52227389
135GATA4_25053715_ChIP-Seq_YYC3_Human0.51871570
136SALL4_18804426_ChIP-ChIP_XEN_Mouse0.51420165
137STAT1_17558387_ChIP-Seq_HELA_Human0.51275024
138SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.51232447
139SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.51189866
140PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.50644487
141DNAJC2_21179169_ChIP-ChIP_NT2_Human0.50413256
142NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.49877260
143EGR1_19032775_ChIP-ChIP_M12_Human0.49762036
144* MYC_19915707_ChIP-ChIP_AK7_Human0.49533198
145AR_21572438_ChIP-Seq_LNCaP_Human0.48585439
146TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse0.48452266
147CTBP1_25329375_ChIP-Seq_LNCAP_Human0.48357323
148EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.47978732
149PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.47929309
150CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.47875744
151P300_19829295_ChIP-Seq_ESCs_Human0.47542059
152* SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.47503386
153DROSHA_22980978_ChIP-Seq_HELA_Human0.47464433
154ESET_19884257_ChIP-Seq_ESCs_Mouse0.47442632
155SMAD4_21741376_ChIP-Seq_EPCs_Human0.46725828
156* SOX2_21211035_ChIP-Seq_LN229_Gbm0.46717500
157MYC_27129775_Chip-Seq_CORNEA_Mouse0.46027523
158CTBP2_25329375_ChIP-Seq_LNCAP_Human0.45927925
159CTCF_27219007_Chip-Seq_Bcells_Human0.45886593
160* TBX20_22080862_ChIP-Seq_HEART_Mouse0.45755102
161* TBX20_22328084_ChIP-Seq_HEART_Mouse0.45755102
162SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.45736577
163CRX_20693478_ChIP-Seq_RETINA_Mouse0.45451046
164* OCT4_21477851_ChIP-Seq_ESCs_Mouse0.45289095
165EZH2_27294783_Chip-Seq_NPCs_Mouse0.45210520
166TAF2_19829295_ChIP-Seq_ESCs_Human0.45138747
167EED_16625203_ChIP-ChIP_MESCs_Mouse0.45134993
168FOXA1_25552417_ChIP-Seq_VCAP_Human0.45023275
169CEBPB_22108803_ChIP-Seq_LS180_Human0.44752584
170NCOR_22424771_ChIP-Seq_293T_Human0.44505997

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.14855651
2MP0005360_urolithiasis7.16825397
3MP0005085_abnormal_gallbladder_physiolo6.38318636
4MP0005365_abnormal_bile_salt5.92393715
5MP0008875_abnormal_xenobiotic_pharmacok5.07275453
6MP0008438_abnormal_cutaneous_collagen4.82195368
7MP0003806_abnormal_nucleotide_metabolis4.09969390
8MP0003252_abnormal_bile_duct3.75796579
9MP0004859_abnormal_synaptic_plasticity3.63124503
10MP0010329_abnormal_lipoprotein_level3.53142968
11MP0004272_abnormal_basement_membrane3.49197425
12MP0005623_abnormal_meninges_morphology3.17473292
13MP0005083_abnormal_biliary_tract3.14793582
14MP0009840_abnormal_foam_cell3.07820631
15MP0003195_calcinosis3.03230094
16MP0009780_abnormal_chondrocyte_physiolo2.94972641
17MP0003566_abnormal_cell_adhesion2.78557784
18MP0001958_emphysema2.69556206
19MP0005332_abnormal_amino_acid2.69182664
20MP0001666_abnormal_nutrient_absorption2.41575871
21MP0005257_abnormal_intraocular_pressure2.33618103
22MP0003279_aneurysm2.24946469
23* MP0002118_abnormal_lipid_homeostasis2.13850826
24MP0004510_myositis2.12337176
25MP0001348_abnormal_lacrimal_gland2.09678556
26MP0003191_abnormal_cellular_cholesterol2.04918428
27MP0000609_abnormal_liver_physiology1.99836777
28MP0003880_abnormal_central_pattern1.93947562
29MP0004019_abnormal_vitamin_homeostasis1.92169021
30MP0001849_ear_inflammation1.90799944
31MP0004270_analgesia1.90305717
32MP0003868_abnormal_feces_composition1.84498851
33MP0003091_abnormal_cell_migration1.82073942
34MP0002837_dystrophic_cardiac_calcinosis1.81603619
35MP0002877_abnormal_melanocyte_morpholog1.80621073
36MP0005319_abnormal_enzyme/_coenzyme1.76165836
37MP0002060_abnormal_skin_morphology1.70800256
38MP0009697_abnormal_copulation1.67665521
39MP0003635_abnormal_synaptic_transmissio1.59882974
40MP0005584_abnormal_enzyme/coenzyme_acti1.58493468
41MP0000749_muscle_degeneration1.56634984
42MP0004858_abnormal_nervous_system1.56264101
43MP0005275_abnormal_skin_tensile1.56104884
44MP0002138_abnormal_hepatobiliary_system1.55104453
45MP0001764_abnormal_homeostasis1.53035872
46MP0005023_abnormal_wound_healing1.49521298
47MP0000534_abnormal_ureter_morphology1.47576602
48MP0010030_abnormal_orbit_morphology1.46110446
49MP0003950_abnormal_plasma_membrane1.45493574
50MP0005451_abnormal_body_composition1.44075111
51MP0000733_abnormal_muscle_development1.43996643
52MP0000537_abnormal_urethra_morphology1.41997952
53MP0000762_abnormal_tongue_morphology1.37488436
54MP0002295_abnormal_pulmonary_circulatio1.35947435
55MP0002089_abnormal_postnatal_growth/wei1.33708868
56MP0000013_abnormal_adipose_tissue1.29425232
57MP0003011_delayed_dark_adaptation1.28898612
58MP0002896_abnormal_bone_mineralization1.23816581
59MP0000759_abnormal_skeletal_muscle1.18200153
60MP0003656_abnormal_erythrocyte_physiolo1.17212817
61MP0000604_amyloidosis1.15493959
62MP0000003_abnormal_adipose_tissue1.15325747
63MP0010368_abnormal_lymphatic_system1.15263374
64MP0003879_abnormal_hair_cell1.11883820
65MP0005508_abnormal_skeleton_morphology1.11644314
66MP0002822_catalepsy1.11423561
67MP0000467_abnormal_esophagus_morphology1.10465352
68MP0001299_abnormal_eye_distance/1.09578723
69MP0000750_abnormal_muscle_regeneration1.08121670
70MP0000767_abnormal_smooth_muscle1.07721429
71* MP0002063_abnormal_learning/memory/cond1.07654854
72MP0006036_abnormal_mitochondrial_physio1.05624101
73MP0005165_increased_susceptibility_to1.05511974
74MP0005076_abnormal_cell_differentiation1.05038008
75MP0003634_abnormal_glial_cell1.04387960
76MP0003453_abnormal_keratinocyte_physiol1.04267248
77MP0009643_abnormal_urine_homeostasis1.04017122
78* MP0005595_abnormal_vascular_smooth1.01883725
79MP0004130_abnormal_muscle_cell1.01791812
80MP0001542_abnormal_bone_strength1.00954905
81MP0003186_abnormal_redox_activity0.99955431
82MP0005164_abnormal_response_to0.99820005
83MP0003329_amyloid_beta_deposits0.99413914
84MP0005423_abnormal_somatic_nervous0.99234520
85MP0004087_abnormal_muscle_fiber0.97764239
86MP0005375_adipose_tissue_phenotype0.96870327
87MP0005503_abnormal_tendon_morphology0.96788355
88MP0000598_abnormal_liver_morphology0.96101060
89MP0005535_abnormal_body_temperature0.95461362
90MP0002876_abnormal_thyroid_physiology0.93524940
91MP0009764_decreased_sensitivity_to0.93299833
92MP0002064_seizures0.92435662
93MP0003942_abnormal_urinary_system0.90799958
94* MP0005647_abnormal_sex_gland0.90027296
95MP0009763_increased_sensitivity_to0.89932525
96MP0004233_abnormal_muscle_weight0.89722928
97MP0005501_abnormal_skin_physiology0.89305032
98* MP0002572_abnormal_emotion/affect_behav0.89239559
99MP0003705_abnormal_hypodermis_morpholog0.89194116
100MP0000858_altered_metastatic_potential0.87721769
101* MP0002078_abnormal_glucose_homeostasis0.85446894
102MP0004185_abnormal_adipocyte_glucose0.85048906
103MP0002249_abnormal_larynx_morphology0.84221924
104* MP0009642_abnormal_blood_homeostasis0.83374752
105MP0002254_reproductive_system_inflammat0.80824879
106MP0005084_abnormal_gallbladder_morpholo0.80066791
107MP0005636_abnormal_mineral_homeostasis0.79776487
108MP0003115_abnormal_respiratory_system0.79635724
109MP0005376_homeostasis/metabolism_phenot0.79532372
110MP0000747_muscle_weakness0.78666851
111MP0002971_abnormal_brown_adipose0.78548077
112MP0002734_abnormal_mechanical_nocicepti0.78451615
113MP0005670_abnormal_white_adipose0.78316308
114MP0010771_integument_phenotype0.77736059
115MP0001346_abnormal_lacrimal_gland0.77390670
116MP0003646_muscle_fatigue0.76911378
117MP0005409_darkened_coat_color0.76616256
118MP0000163_abnormal_cartilage_morphology0.76201033
119MP0003690_abnormal_glial_cell0.75580903
120MP0005334_abnormal_fat_pad0.75084948
121MP0000428_abnormal_craniofacial_morphol0.74613162
122MP0006035_abnormal_mitochondrial_morpho0.74497778
123MP0005330_cardiomyopathy0.74055602
124MP0001243_abnormal_dermal_layer0.73843873
125MP0008260_abnormal_autophagy0.71822087
126MP0005266_abnormal_metabolism0.71496777
127MP0008469_abnormal_protein_level0.70539916
128MP0001879_abnormal_lymphatic_vessel0.70333211
129MP0005197_abnormal_uvea_morphology0.69804395
130MP0005058_abnormal_lysosome_morphology0.68870972
131MP0000920_abnormal_myelination0.67529197
132MP0008874_decreased_physiological_sensi0.67384726
133MP0003123_paternal_imprinting0.65614198
134MP0000639_abnormal_adrenal_gland0.65202648
135* MP0009745_abnormal_behavioral_response0.64934021
136MP0010234_abnormal_vibrissa_follicle0.64552277
137MP0009765_abnormal_xenobiotic_induced0.61582567
138* MP0005448_abnormal_energy_balance0.57377872
139MP0004036_abnormal_muscle_relaxation0.50479365
140MP0005408_hypopigmentation0.49475226
141MP0002269_muscular_atrophy0.49394503
142* MP0003953_abnormal_hormone_level0.49366018
143MP0001661_extended_life_span0.49365139
144* MP0000230_abnormal_systemic_arterial0.47397499
145MP0005248_abnormal_Harderian_gland0.46893224
146MP0005220_abnormal_exocrine_pancreas0.46848885
147MP0003638_abnormal_response/metabolism_0.43816242
148MP0004215_abnormal_myocardial_fiber0.43707567
149MP0003075_altered_response_to0.41495216
150MP0005395_other_phenotype0.41149511
151MP0001756_abnormal_urination0.40912799
152MP0005666_abnormal_adipose_tissue0.40842649
153MP0000579_abnormal_nail_morphology0.40738096
154MP0003718_maternal_effect0.40694655
155MP0006138_congestive_heart_failure0.40523286
156MP0009053_abnormal_anal_canal0.39692414
157MP0005646_abnormal_pituitary_gland0.38332826
158MP0000751_myopathy0.38084830
159MP0008872_abnormal_physiological_respon0.37398811
160MP0008775_abnormal_heart_ventricle0.36347488
161MP0009384_cardiac_valve_regurgitation0.36260698
162MP0009115_abnormal_fat_cell0.34394064
163MP0003137_abnormal_impulse_conducting0.33605972
164MP0005385_cardiovascular_system_phenoty0.33544169
165MP0001544_abnormal_cardiovascular_syste0.33544169
166MP0005166_decreased_susceptibility_to0.33530190
167MP0002909_abnormal_adrenal_gland0.33232486
168MP0004782_abnormal_surfactant_physiolog0.33073471
169* MP0004085_abnormal_heartbeat0.32721353
170MP0001501_abnormal_sleep_pattern0.32654913
171MP0009672_abnormal_birth_weight0.32077704
172MP0008873_increased_physiological_sensi0.32040299
173MP0004084_abnormal_cardiac_muscle0.31111773
174MP0002332_abnormal_exercise_endurance0.31107912
175MP0005187_abnormal_penis_morphology0.30986281
176MP0002090_abnormal_vision0.30316131
177MP0000249_abnormal_blood_vessel0.30180162

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of aromatic amino acid family metabolism (HP:0004338)7.16503495
2Deep venous thrombosis (HP:0002625)7.09423808
3Intrahepatic cholestasis (HP:0001406)6.89144929
4Prolonged partial thromboplastin time (HP:0003645)6.34183918
5Xanthomatosis (HP:0000991)6.02991120
6Abnormality of monocarboxylic acid metabolism (HP:0010996)6.00908912
7Hypobetalipoproteinemia (HP:0003563)5.89774885
8Hyperlipoproteinemia (HP:0010980)5.61040022
9Premature rupture of membranes (HP:0001788)5.22770080
10Protrusio acetabuli (HP:0003179)5.22209661
11Complement deficiency (HP:0004431)4.90427777
12Hypolipoproteinemia (HP:0010981)4.52297408
13Joint hemorrhage (HP:0005261)4.49413032
14Epidermoid cyst (HP:0200040)4.48473501
15Hyperammonemia (HP:0001987)4.47588657
16Vascular tortuosity (HP:0004948)4.41490510
17Ketosis (HP:0001946)4.34866008
18Hyperglycinemia (HP:0002154)4.33021661
19Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.15219698
20Atrophic scars (HP:0001075)4.14240755
21Hypoalphalipoproteinemia (HP:0003233)4.11095830
22Abnormality of the common coagulation pathway (HP:0010990)4.04802698
23Fragile skin (HP:0001030)4.00670973
24Upper limb amyotrophy (HP:0009129)3.96540982
25Distal upper limb amyotrophy (HP:0007149)3.96540982
26Abnormality of methionine metabolism (HP:0010901)3.93758246
27Abnormality of glycine metabolism (HP:0010895)3.88475485
28Abnormality of serine family amino acid metabolism (HP:0010894)3.88475485
29Abnormality of sulfur amino acid metabolism (HP:0004339)3.83298586
30Hyperglycinuria (HP:0003108)3.82865431
31Hypoglycemic coma (HP:0001325)3.80992372
32Abnormality of aspartate family amino acid metabolism (HP:0010899)3.79640769
33Abnormality of glutamine family amino acid metabolism (HP:0010902)3.79015714
34Fat malabsorption (HP:0002630)3.74788560
35Conjugated hyperbilirubinemia (HP:0002908)3.53698622
36Abnormality of complement system (HP:0005339)3.50540391
37Abnormality of the intrinsic pathway (HP:0010989)3.47039281
38Hypercholesterolemia (HP:0003124)3.44508547
39Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.43347333
40Arterial tortuosity (HP:0005116)3.43185177
41Abnormality of fatty-acid metabolism (HP:0004359)3.42290200
42Distal lower limb amyotrophy (HP:0008944)3.33763036
43Ketoacidosis (HP:0001993)3.30608415
44Aortic aneurysm (HP:0004942)3.29705944
45Hyperbilirubinemia (HP:0002904)3.18930749
46Abnormality of pyrimidine metabolism (HP:0004353)3.18123022
47Hypochromic microcytic anemia (HP:0004840)3.14999985
48Spinal rigidity (HP:0003306)3.14037075
49Spontaneous abortion (HP:0005268)3.10854243
50Delayed CNS myelination (HP:0002188)3.09682296
51Vertebral compression fractures (HP:0002953)3.08675882
52Increased connective tissue (HP:0009025)3.07296949
53Lower limb amyotrophy (HP:0007210)3.02420837
54Premature skin wrinkling (HP:0100678)3.00365028
55Abnormality of serum amino acid levels (HP:0003112)3.00192041
56Hand muscle atrophy (HP:0009130)2.99862739
57Wormian bones (HP:0002645)2.98407844
58Cerebral edema (HP:0002181)2.90156646
59Skin nodule (HP:0200036)2.85379444
60Bladder diverticulum (HP:0000015)2.84399293
61Shallow orbits (HP:0000586)2.82229906
62Metabolic acidosis (HP:0001942)2.81375173
63Supranuclear gaze palsy (HP:0000605)2.80658439
64Cerebral aneurysm (HP:0004944)2.79161319
65Steatorrhea (HP:0002570)2.79015767
66Aortic dissection (HP:0002647)2.77301602
67Hepatocellular carcinoma (HP:0001402)2.76920508
68Myocardial infarction (HP:0001658)2.76323599
69Distal lower limb muscle weakness (HP:0009053)2.74645387
70Short nail (HP:0001799)2.71522277
71Lethargy (HP:0001254)2.70820423
72Abnormal gallbladder morphology (HP:0012437)2.70193079
73Axonal loss (HP:0003447)2.68187261
74Dicarboxylic aciduria (HP:0003215)2.67455963
75Abnormality of dicarboxylic acid metabolism (HP:0010995)2.67455963
76Abnormality of nucleobase metabolism (HP:0010932)2.67208709
77Cholelithiasis (HP:0001081)2.66600755
78Mitral regurgitation (HP:0001653)2.62784722
79Hyperacusis (HP:0010780)2.62005425
80Ulnar bowing (HP:0003031)2.59155663
81Vascular calcification (HP:0004934)2.58985347
82Ankle contracture (HP:0006466)2.58516133
83Neurofibrillary tangles (HP:0002185)2.57725339
84Obstructive sleep apnea (HP:0002870)2.57212516
85Mitral stenosis (HP:0001718)2.52584986
86Achilles tendon contracture (HP:0001771)2.50543189
87Insomnia (HP:0100785)2.46079269
88Cholecystitis (HP:0001082)2.45357571
89Abnormal gallbladder physiology (HP:0012438)2.45357571
90Difficulty climbing stairs (HP:0003551)2.44788894
91Hypoglycemic seizures (HP:0002173)2.43961755
92Cerebral inclusion bodies (HP:0100314)2.42905388
93Abnormality of purine metabolism (HP:0004352)2.41751552
94Dilatation of the ascending aorta (HP:0005111)2.38357818
95Abnormality of the Achilles tendon (HP:0005109)2.37322052
96Systemic lupus erythematosus (HP:0002725)2.37188101
97Broad face (HP:0000283)2.35867242
98Gout (HP:0001997)2.34112296
99Cervical subluxation (HP:0003308)2.32882279
100Neonatal onset (HP:0003623)2.29984078
101Cardiovascular calcification (HP:0011915)2.29254348
102Reduced subcutaneous adipose tissue (HP:0003758)2.27854185
103Acanthocytosis (HP:0001927)2.26083765
104Abnormality of dentin (HP:0010299)2.25198438
105Osteolytic defects of the phalanges of the hand (HP:0009771)2.25088096
106Osteolytic defects of the hand bones (HP:0009699)2.25088096
107Amyloidosis (HP:0011034)2.22464733
108Myokymia (HP:0002411)2.20908235
109Glucose intolerance (HP:0000833)2.20783217
110Pterygium (HP:0001059)2.20551033
111Blue sclerae (HP:0000592)2.20319004
112Wrist flexion contracture (HP:0001239)2.19674173
113Vomiting (HP:0002013)2.19581283
114Aneurysm (HP:0002617)2.19026959
115Sensorimotor neuropathy (HP:0007141)2.17382105
116Irritability (HP:0000737)2.17144935
117Hyperinsulinemic hypoglycemia (HP:0000825)2.16962502
118Mildly elevated creatine phosphokinase (HP:0008180)2.16612519
119Glomerulonephritis (HP:0000099)2.14208968
120Abnormality of the gallbladder (HP:0005264)2.13036280
121Late onset (HP:0003584)2.11303014
122Spastic diplegia (HP:0001264)2.09110449
123Brushfield spots (HP:0001088)2.07675896
124Bowel diverticulosis (HP:0005222)2.05087900
125Status epilepticus (HP:0002133)2.04498483
126Enlarged kidneys (HP:0000105)2.04409178
127Malnutrition (HP:0004395)2.04081711
128Soft skin (HP:0000977)2.03810581
129Generalized amyotrophy (HP:0003700)2.03724922
130Increased variability in muscle fiber diameter (HP:0003557)1.98635467
131Opisthotonus (HP:0002179)1.97832576
132Focal segmental glomerulosclerosis (HP:0000097)1.97144230
133Hypophosphatemic rickets (HP:0004912)1.96758366
134Menorrhagia (HP:0000132)1.94611851
135Spinal cord compression (HP:0002176)1.94485520
136Elbow flexion contracture (HP:0002987)1.94194043
137Gingival bleeding (HP:0000225)1.90956513
138Ectopia lentis (HP:0001083)1.90624839
139Pancreatitis (HP:0001733)1.90555538
140Generalized aminoaciduria (HP:0002909)1.90542120
141Milia (HP:0001056)1.90329690
142Hemorrhage of the eye (HP:0011885)1.90297916
143Torticollis (HP:0000473)1.89359573
144Acanthosis nigricans (HP:0000956)1.89152324
145Hyperextensible skin (HP:0000974)1.89059779
146Renal cortical cysts (HP:0000803)1.88536079
147Mild short stature (HP:0003502)1.87910918
148Hyperventilation (HP:0002883)1.87906319
149Stridor (HP:0010307)1.86807015
150Joint laxity (HP:0001388)1.85926926
151Recurrent gram-negative bacterial infections (HP:0005420)1.85516919
152Poikilocytosis (HP:0004447)1.84637058
153Esophageal varix (HP:0002040)1.84171926
154Aortic regurgitation (HP:0001659)1.84154781
155Type 1 muscle fiber predominance (HP:0003803)1.83917018
156Thrombophlebitis (HP:0004418)1.82964510
157Bowing of the arm (HP:0006488)1.82252910
158Bowed forearm bones (HP:0003956)1.82252910
159Back pain (HP:0003418)1.81302444
160Hydroxyprolinuria (HP:0003080)1.79701194
161Abnormality of proline metabolism (HP:0010907)1.79701194
162Rickets (HP:0002748)1.79128905
163J-shaped sella turcica (HP:0002680)1.79102967
164Broad metatarsal (HP:0001783)1.78852979
165Acute encephalopathy (HP:0006846)1.78593031
166Mitral valve prolapse (HP:0001634)1.78370488
167Nuclear cataract (HP:0100018)1.77462716
168Abnormal delivery (HP:0001787)1.77366993
169Bronchomalacia (HP:0002780)1.76698868
170Hyperglycemia (HP:0003074)1.75381327
171Acute hepatic failure (HP:0006554)1.74498923
172Abnormality of the distal phalanges of the toes (HP:0010182)1.73501003
173Microglossia (HP:0000171)1.73334063
174Insulin resistance (HP:0000855)1.69843980
175Aplasia involving bones of the upper limbs (HP:0009823)1.69212100
176Aplasia of the phalanges of the hand (HP:0009802)1.69212100
177Aplasia involving bones of the extremities (HP:0009825)1.69212100
178Slender build (HP:0001533)1.68177140
179Aortic valve stenosis (HP:0001650)1.68022961
180Ragged-red muscle fibers (HP:0003200)1.67536860
181Coxa vara (HP:0002812)1.67520765
182Abnormal cartilage morphology (HP:0002763)1.67404989
183Genu recurvatum (HP:0002816)1.66955969
184Elevated hepatic transaminases (HP:0002910)1.66351067
185Abnormality of skeletal muscle fiber size (HP:0012084)1.65912274
186Abnormal atrioventricular conduction (HP:0005150)1.65202418
187Vertebral arch anomaly (HP:0008438)1.64942288
188Abnormality of vitamin metabolism (HP:0100508)1.64579869
189Reticulocytosis (HP:0001923)1.64026614
190Hammertoe (HP:0001765)1.61788003
191Joint stiffness (HP:0001387)1.60001352
192Disproportionate tall stature (HP:0001519)1.59826800
193Spondylolisthesis (HP:0003302)1.59811142

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.23362149
2EPHA25.01363278
3SIK14.59201329
4FGFR43.69840825
5ERN12.89525429
6ERBB42.88827397
7INSRR2.85028764
8MAP2K42.81451283
9NTRK12.50031781
10TESK12.49105312
11PAK62.49065139
12MET2.30596692
13TAOK32.26356042
14LIMK12.14147414
15PINK12.06208572
16DAPK21.95907253
17PTK21.91097734
18RIPK11.91076928
19PKN21.88152229
20NME21.81870531
21PAK41.75925137
22EPHB21.75542630
23PDGFRA1.75330826
24PRKD31.72490398
25ARAF1.64692676
26PRPF4B1.51298690
27MOS1.45806685
28LATS11.45513258
29MAP3K41.42019094
30MYLK1.40782964
31TRIB31.36016679
32ICK1.34730012
33MAP3K71.32821676
34PIK3CG1.32617667
35EPHA41.31769946
36MST1R1.30365802
37MAPK111.26144754
38MAP3K91.23736186
39DAPK11.22660561
40MAPK121.16378455
41FGFR21.15783119
42MAP2K71.11898222
43PRKAA21.10716750
44FLT31.08421428
45PAK31.05768839
46PKN11.04353360
47ABL21.02831872
48TIE11.02790282
49CAMK2G1.02779325
50PHKG20.97872983
51PHKG10.97872983
52PTK60.94676814
53PDK40.94244664
54PDK30.94244664
55PRKCZ0.92070528
56JAK20.91643807
57CASK0.89947708
58EPHB10.88749691
59MARK10.88640533
60MAPK40.88297511
61ROCK20.88251201
62PIK3CA0.85287840
63GRK60.85082821
64PRKACG0.83803849
65TYK20.83427634
66DDR20.83258666
67EPHA30.83038362
68MUSK0.82609733
69GRK70.81519133
70JAK10.81259056
71CAMK2A0.80234254
72SGK30.79902521
73STK38L0.79828070
74PRKAA10.76848954
75PRKCG0.75534295
76SGK20.74706025
77PAK20.74686118
78CAMK1D0.74522649
79KDR0.74434463
80SGK2230.74270367
81SGK4940.74270367
82CSNK1G20.74158141
83CAMK1G0.74016557
84TGFBR20.73752455
85MINK10.73250668
86MAPK70.73105952
87LATS20.72866840
88BMX0.72579235
89ERBB20.71967197
90TESK20.71966463
91NTRK30.71560578
92OBSCN0.70419779
93MAPK150.68861311
94CAMK2B0.68731029
95MAP3K50.68634355
96TTN0.68551829
97CDK150.68390346
98CSNK1G10.68272491
99TAOK20.67543416
100PRKG20.65675937
101CDK180.65446204
102PRKD20.65296749
103CSNK1G30.65002596
104CAMK40.64687503
105PDPK10.63354027
106MAP3K60.62720708
107ILK0.62710321
108CDK11A0.62704306
109CDK80.62680180
110NEK90.61958522
111CDK140.60278913
112FRK0.60236125
113PRKCQ0.59500717
114PTK2B0.57719851
115MAP3K30.56939596
116ROCK10.55165579
117RPS6KA20.54694665
118BRSK10.53648635
119MTOR0.52759451
120CAMK2D0.52373067
121MAP3K120.52199501
122KSR20.51934171
123GRK50.51761802
124MAP2K60.50973223
125PAK10.50485489
126IRAK30.50277265
127STK380.49823054
128PDGFRB0.47714370
129CAMKK10.47627492
130PIM20.47492926
131GSK3A0.46585304
132PRKACA0.46486060
133MAP3K10.46051079
134RET0.45779542
135MARK20.45754536
136IRAK20.45441531
137IRAK10.43784063
138CDC42BPA0.43689688
139TBK10.43549064
140AKT30.43089833
141LMTK20.42259581
142PDK10.40524602
143DAPK30.40459052
144PRKG10.40278488
145PRKD10.39365656
146ADRBK20.38652673
147CDK50.37759394
148DMPK0.37558794
149CAMK10.37419868
150BRAF0.35992506
151MAP2K30.35764825
152SIK20.35557877
153MAP2K10.35497455
154CSNK1A1L0.34770178
155MAP3K130.34646637
156UHMK10.32386371
157NEK10.31962840
158SCYL20.31761505
159MAP3K110.29957958
160MAP3K20.29380865
161AURKA0.28203924
162KSR10.27910392
163SMG10.24576613
164SRC0.24225387
165NEK60.23930492
166PRKCH0.22904902

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.34437324
2Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.54383549
3Nitrogen metabolism_Homo sapiens_hsa009103.36915554
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.10305248
5Arginine biosynthesis_Homo sapiens_hsa002203.01996784
6Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.88149096
7Tryptophan metabolism_Homo sapiens_hsa003802.76283717
8Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.65946203
9Complement and coagulation cascades_Homo sapiens_hsa046102.60291149
10Fatty acid degradation_Homo sapiens_hsa000712.56183025
11Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.46740238
12ECM-receptor interaction_Homo sapiens_hsa045122.44278964
13Butanoate metabolism_Homo sapiens_hsa006502.39070530
14Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.38618651
15Synaptic vesicle cycle_Homo sapiens_hsa047212.29201548
16Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049612.17223915
17Propanoate metabolism_Homo sapiens_hsa006402.13538369
18Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005322.06646133
19Peroxisome_Homo sapiens_hsa041462.06188662
20Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054122.03492902
21Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.03410288
22Pentose and glucuronate interconversions_Homo sapiens_hsa000402.02214594
23Fatty acid metabolism_Homo sapiens_hsa012121.93944203
24Focal adhesion_Homo sapiens_hsa045101.93903697
25Histidine metabolism_Homo sapiens_hsa003401.90124442
26PPAR signaling pathway_Homo sapiens_hsa033201.86074136
27Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.85532594
28Chemical carcinogenesis_Homo sapiens_hsa052041.85228564
29Steroid hormone biosynthesis_Homo sapiens_hsa001401.84687267
30Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.79970041
31Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.79087705
32beta-Alanine metabolism_Homo sapiens_hsa004101.76377868
332-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.76293979
34Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.69106319
35Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.64490272
36Phenylalanine metabolism_Homo sapiens_hsa003601.61890057
37Retinol metabolism_Homo sapiens_hsa008301.60748221
38Staphylococcus aureus infection_Homo sapiens_hsa051501.58238639
39Fatty acid elongation_Homo sapiens_hsa000621.55963146
40Drug metabolism - other enzymes_Homo sapiens_hsa009831.52921742
41Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.51177686
42Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.49996752
43Tyrosine metabolism_Homo sapiens_hsa003501.49685183
44Bile secretion_Homo sapiens_hsa049761.48822952
45Pyruvate metabolism_Homo sapiens_hsa006201.47485586
46Caffeine metabolism_Homo sapiens_hsa002321.45789428
47Long-term potentiation_Homo sapiens_hsa047201.38986207
48Selenocompound metabolism_Homo sapiens_hsa004501.33233939
49Glycosaminoglycan degradation_Homo sapiens_hsa005311.32087849
50Sulfur metabolism_Homo sapiens_hsa009201.27906738
51Steroid biosynthesis_Homo sapiens_hsa001001.27181842
52Starch and sucrose metabolism_Homo sapiens_hsa005001.26963642
53Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.25914565
54Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.24017422
55Cysteine and methionine metabolism_Homo sapiens_hsa002701.22275981
56Proteoglycans in cancer_Homo sapiens_hsa052051.20523765
57Carbon metabolism_Homo sapiens_hsa012001.20166067
58Amphetamine addiction_Homo sapiens_hsa050311.18274802
59Biosynthesis of amino acids_Homo sapiens_hsa012301.13836086
60Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.13696672
61ABC transporters_Homo sapiens_hsa020101.13623375
62Axon guidance_Homo sapiens_hsa043601.11681819
63* Salivary secretion_Homo sapiens_hsa049701.11476397
64Insulin secretion_Homo sapiens_hsa049111.08429448
65Aldosterone synthesis and secretion_Homo sapiens_hsa049251.08127825
66Fat digestion and absorption_Homo sapiens_hsa049751.06663970
67Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.06551094
68Regulation of actin cytoskeleton_Homo sapiens_hsa048101.06451564
69Vibrio cholerae infection_Homo sapiens_hsa051101.06291688
70Glioma_Homo sapiens_hsa052141.06060223
71Hippo signaling pathway_Homo sapiens_hsa043901.05824924
72Amoebiasis_Homo sapiens_hsa051461.04399985
73Gastric acid secretion_Homo sapiens_hsa049711.03503552
74Adherens junction_Homo sapiens_hsa045201.03186987
75* Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.00226516
76Folate biosynthesis_Homo sapiens_hsa007900.99792307
77Cocaine addiction_Homo sapiens_hsa050300.99292634
78Arginine and proline metabolism_Homo sapiens_hsa003300.97910871
79Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.96885684
80Gap junction_Homo sapiens_hsa045400.96464603
81Morphine addiction_Homo sapiens_hsa050320.95318815
82Vitamin B6 metabolism_Homo sapiens_hsa007500.91918042
83Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.89575018
84Melanogenesis_Homo sapiens_hsa049160.88024610
85Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.87536738
86Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.86708769
87Dopaminergic synapse_Homo sapiens_hsa047280.85152584
88Endocytosis_Homo sapiens_hsa041440.85004710
89Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.83789185
90Small cell lung cancer_Homo sapiens_hsa052220.83742894
91Maturity onset diabetes of the young_Homo sapiens_hsa049500.82663870
92Cyanoamino acid metabolism_Homo sapiens_hsa004600.82386008
93Thyroid hormone signaling pathway_Homo sapiens_hsa049190.81536614
94Circadian entrainment_Homo sapiens_hsa047130.80652473
95Glutamatergic synapse_Homo sapiens_hsa047240.80274241
96Chronic myeloid leukemia_Homo sapiens_hsa052200.80218006
97Sulfur relay system_Homo sapiens_hsa041220.79700827
98AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.79001623
99GnRH signaling pathway_Homo sapiens_hsa049120.78798394
100Lysine degradation_Homo sapiens_hsa003100.75679528
101Estrogen signaling pathway_Homo sapiens_hsa049150.72465548
102Vitamin digestion and absorption_Homo sapiens_hsa049770.71980833
103Bladder cancer_Homo sapiens_hsa052190.71514096
104Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.71375008
105Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.70452443
106Neurotrophin signaling pathway_Homo sapiens_hsa047220.68460514
107ErbB signaling pathway_Homo sapiens_hsa040120.67830033
108Cholinergic synapse_Homo sapiens_hsa047250.65290978
109Renal cell carcinoma_Homo sapiens_hsa052110.64592939
110Phospholipase D signaling pathway_Homo sapiens_hsa040720.64317270
111Glycerolipid metabolism_Homo sapiens_hsa005610.63910976
112Protein digestion and absorption_Homo sapiens_hsa049740.63518443
113Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.63434694
114Fatty acid biosynthesis_Homo sapiens_hsa000610.62652103
115Tight junction_Homo sapiens_hsa045300.62109222
116cAMP signaling pathway_Homo sapiens_hsa040240.61865999
117Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.61388476
118Rap1 signaling pathway_Homo sapiens_hsa040150.60923087
119Notch signaling pathway_Homo sapiens_hsa043300.57935297
120VEGF signaling pathway_Homo sapiens_hsa043700.57172267
121PI3K-Akt signaling pathway_Homo sapiens_hsa041510.56973052
122* cGMP-PKG signaling pathway_Homo sapiens_hsa040220.55378673
123Oxytocin signaling pathway_Homo sapiens_hsa049210.55289259
124Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.53441971
125Phosphatidylinositol signaling system_Homo sapiens_hsa040700.52992083
126Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.52709316
127Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.51677940
128Glutathione metabolism_Homo sapiens_hsa004800.51359952
129Metabolic pathways_Homo sapiens_hsa011000.47867823
130One carbon pool by folate_Homo sapiens_hsa006700.45383498
131Prion diseases_Homo sapiens_hsa050200.35680508
132Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.35291590
133Pentose phosphate pathway_Homo sapiens_hsa000300.35207092
134Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.28795319
135alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.28644565
136Adipocytokine signaling pathway_Homo sapiens_hsa049200.25737259
137Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.24483065
138Insulin resistance_Homo sapiens_hsa049310.23974246
139Linoleic acid metabolism_Homo sapiens_hsa005910.21290682
140Galactose metabolism_Homo sapiens_hsa000520.20776087
141Glucagon signaling pathway_Homo sapiens_hsa049220.17510200
142Glycerophospholipid metabolism_Homo sapiens_hsa005640.16723446
143Fructose and mannose metabolism_Homo sapiens_hsa000510.15036624
144Oxidative phosphorylation_Homo sapiens_hsa001900.11739637
145Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.09952953
146Ovarian steroidogenesis_Homo sapiens_hsa049130.05957574
147Parkinsons disease_Homo sapiens_hsa050120.04075019
148AMPK signaling pathway_Homo sapiens_hsa041520.02440082
149Huntingtons disease_Homo sapiens_hsa05016-0.2252897
150Arachidonic acid metabolism_Homo sapiens_hsa00590-0.2091091
151Nicotine addiction_Homo sapiens_hsa05033-0.2088930
152Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.2015176
153Dilated cardiomyopathy_Homo sapiens_hsa05414-0.1866022
154Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1857225
155Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1848472
156Ether lipid metabolism_Homo sapiens_hsa00565-0.1833779
157Longevity regulating pathway - multiple species_Homo sapiens_hsa04213-0.1803185
158African trypanosomiasis_Homo sapiens_hsa05143-0.1333918
159Regulation of autophagy_Homo sapiens_hsa04140-0.1262845
160Type II diabetes mellitus_Homo sapiens_hsa04930-0.1136433
161GABAergic synapse_Homo sapiens_hsa04727-0.0413006
162Cardiac muscle contraction_Homo sapiens_hsa04260-0.0213150
163Insulin signaling pathway_Homo sapiens_hsa04910-0.0208429
164Alzheimers disease_Homo sapiens_hsa05010-0.0048027

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