DNASE1

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





Description: This gene encodes a member of the DNase family. This protein is stored in the zymogen granules of the nuclear envelope and functions by cleaving DNA in an endonucleolytic manner. At least six autosomal codominant alleles have been characterized, DNASE1*1 through DNASE1*6, and the sequence of DNASE1*2 represented in this record. Mutations in this gene have been associated with systemic lupus erythematosus (SLE), an autoimmune disease. A recombinant form of this protein is used to treat the one of the symptoms of cystic fibrosis by hydrolyzing the extracellular DNA in sputum and reducing its viscosity. Alternate transcriptional splice variants of this gene have been observed but have not been thoroughly characterized. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1drug transport (GO:0015893)8.66912949
2organic cation transport (GO:0015695)8.41877425
3lysine metabolic process (GO:0006553)8.35784490
4lysine catabolic process (GO:0006554)8.35784490
5phosphate ion transport (GO:0006817)7.90645007
6quaternary ammonium group transport (GO:0015697)6.81298867
7glyoxylate metabolic process (GO:0046487)6.69740040
8response to mercury ion (GO:0046689)6.68184335
9behavioral response to nicotine (GO:0035095)6.66695614
10drug catabolic process (GO:0042737)6.63881449
11exogenous drug catabolic process (GO:0042738)6.53895405
12phosphate ion transmembrane transport (GO:0035435)6.35580240
13cysteine metabolic process (GO:0006534)6.21564902
14excretion (GO:0007588)6.17605965
15tricarboxylic acid metabolic process (GO:0072350)5.95276660
16short-chain fatty acid metabolic process (GO:0046459)5.74839453
17aspartate family amino acid catabolic process (GO:0009068)5.64437581
18nonribosomal peptide biosynthetic process (GO:0019184)5.49411915
19renal absorption (GO:0070293)5.43471800
20branched-chain amino acid metabolic process (GO:0009081)5.31825546
21vitamin D metabolic process (GO:0042359)5.24112903
22toxin transport (GO:1901998)5.23985075
23trivalent inorganic anion homeostasis (GO:0072506)5.20276546
24phosphate ion homeostasis (GO:0055062)5.20276546
25sulfation (GO:0051923)5.15814549
26homocysteine metabolic process (GO:0050667)5.15364243
27fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)5.15167478
28valine metabolic process (GO:0006573)5.11245619
29proline metabolic process (GO:0006560)5.01528498
30amino-acid betaine transport (GO:0015838)4.89161232
31carnitine transport (GO:0015879)4.89161232
32erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)4.87430604
33L-phenylalanine metabolic process (GO:0006558)4.87430604
34aromatic amino acid family catabolic process (GO:0009074)4.83859880
35metanephric nephron tubule development (GO:0072234)4.83796553
36metanephric tubule development (GO:0072170)4.83796553
37glutathione biosynthetic process (GO:0006750)4.83778935
38modified amino acid transport (GO:0072337)4.82234321
39indole-containing compound catabolic process (GO:0042436)4.81459946
40indolalkylamine catabolic process (GO:0046218)4.81459946
41tryptophan catabolic process (GO:0006569)4.81459946
42L-phenylalanine catabolic process (GO:0006559)4.77156730
43erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)4.77156730
44glycoside metabolic process (GO:0016137)4.77102668
45cellular modified amino acid catabolic process (GO:0042219)4.70025681
46tryptophan metabolic process (GO:0006568)4.57668699
47serine family amino acid catabolic process (GO:0009071)4.55849693
48fructose metabolic process (GO:0006000)4.46873703
492-oxoglutarate metabolic process (GO:0006103)4.44874281
50metanephric nephron epithelium development (GO:0072243)4.42860096
51fatty acid beta-oxidation (GO:0006635)4.38733468
52serine family amino acid metabolic process (GO:0009069)4.38206681
53positive regulation of fatty acid beta-oxidation (GO:0032000)4.35926157
54branched-chain amino acid catabolic process (GO:0009083)4.35712334
553-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)4.31976136
56purine ribonucleoside bisphosphate metabolic process (GO:0034035)4.31976136
57amino-acid betaine metabolic process (GO:0006577)4.23863387
58water-soluble vitamin biosynthetic process (GO:0042364)4.21237527
59fatty acid oxidation (GO:0019395)4.13021671
60acetyl-CoA metabolic process (GO:0006084)4.11808838
61NADH metabolic process (GO:0006734)4.09190237
62oligosaccharide catabolic process (GO:0009313)4.07860124
63cellular response to exogenous dsRNA (GO:0071360)4.07226776
64lipid oxidation (GO:0034440)4.04723412
65peptide biosynthetic process (GO:0043043)4.03925920
66metanephric epithelium development (GO:0072207)4.03488354
67monoubiquitinated protein deubiquitination (GO:0035520)3.97840232
68peptide catabolic process (GO:0043171)3.94885875
69detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)3.91837709
70response to phenylpropanoid (GO:0080184)3.88869105
71positive regulation of fatty acid oxidation (GO:0046321)3.88662512
72nephron tubule development (GO:0072080)3.85817160
73polyol transport (GO:0015791)3.85554274
74response to parathyroid hormone (GO:0071107)3.83358065
75glutamate metabolic process (GO:0006536)3.83209763
76carnitine metabolic process (GO:0009437)3.82909427
77indole-containing compound metabolic process (GO:0042430)3.75715293
78cellular amino acid catabolic process (GO:0009063)3.74500435
79sodium-independent organic anion transport (GO:0043252)3.74070361
80kynurenine metabolic process (GO:0070189)3.73462964
81vitamin transport (GO:0051180)3.72675752
82fatty acid catabolic process (GO:0009062)3.70351329
83cellular ketone body metabolic process (GO:0046950)3.69023132
84response to growth hormone (GO:0060416)3.62408146
85alpha-amino acid catabolic process (GO:1901606)3.62364343
86aromatic amino acid family metabolic process (GO:0009072)3.59470693
87membrane depolarization during cardiac muscle cell action potential (GO:0086012)3.57723510
88glutathione metabolic process (GO:0006749)3.57442521
89beta-amyloid metabolic process (GO:0050435)3.52650661
90serine family amino acid biosynthetic process (GO:0009070)3.52613945
91membrane repolarization during cardiac muscle cell action potential (GO:0086013)3.52468062
92hydrogen peroxide catabolic process (GO:0042744)3.49627001
93monocarboxylic acid catabolic process (GO:0072329)3.44023762
94carboxylic acid catabolic process (GO:0046395)3.42969246
95organic acid catabolic process (GO:0016054)3.42969246
96cell proliferation in forebrain (GO:0021846)3.41330035
97indolalkylamine metabolic process (GO:0006586)3.40493787
98renal tubule development (GO:0061326)3.40282701
99benzene-containing compound metabolic process (GO:0042537)3.37180953
100sulfur compound transport (GO:0072348)3.37093672
101protein K48-linked deubiquitination (GO:0071108)3.36339899
102tricarboxylic acid cycle (GO:0006099)3.34898513
103sulfur amino acid catabolic process (GO:0000098)3.34422926
104alkaloid metabolic process (GO:0009820)3.34124532
105succinate metabolic process (GO:0006105)3.33314500
106drug metabolic process (GO:0017144)3.32943975
107glutathione derivative biosynthetic process (GO:1901687)3.32552067
108glutathione derivative metabolic process (GO:1901685)3.32552067
109protein complex biogenesis (GO:0070271)3.30428979
110sodium ion transport (GO:0006814)3.29142686
111dicarboxylic acid metabolic process (GO:0043648)3.25921663
112membrane repolarization during action potential (GO:0086011)3.25872210
113oxaloacetate metabolic process (GO:0006107)3.25855800
114regulation of fatty acid beta-oxidation (GO:0031998)3.22499958
115L-fucose catabolic process (GO:0042355)3.22174966
116fucose catabolic process (GO:0019317)3.22174966
117L-fucose metabolic process (GO:0042354)3.22174966
118activated T cell proliferation (GO:0050798)3.21998974
119regulation of guanylate cyclase activity (GO:0031282)3.19074362
120flavonoid metabolic process (GO:0009812)3.14313926
121negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)3.09429864
122cardiovascular system development (GO:0072358)3.09076830
123mitochondrial respiratory chain complex I biogenesis (GO:0097031)3.08451694
124mitochondrial respiratory chain complex I assembly (GO:0032981)3.08451694
125NADH dehydrogenase complex assembly (GO:0010257)3.08451694
126cellular response to ATP (GO:0071318)3.08024373
127cellular anion homeostasis (GO:0030002)3.06959894
128positive regulation of fatty acid transport (GO:2000193)3.06578973
129serotonin metabolic process (GO:0042428)3.04481306
130regulation of triglyceride catabolic process (GO:0010896)2.96445368
131primary amino compound metabolic process (GO:1901160)2.95791694
132dentate gyrus development (GO:0021542)2.93620230
133negative regulation of systemic arterial blood pressure (GO:0003085)2.92354551
134DNA deamination (GO:0045006)2.89460511
135mitochondrial respiratory chain complex assembly (GO:0033108)2.88167565
136kidney morphogenesis (GO:0060993)2.83282444
137cobalamin metabolic process (GO:0009235)2.82776257
138gamma-aminobutyric acid transport (GO:0015812)2.80721662
139vitamin biosynthetic process (GO:0009110)2.79994455
140protein import into peroxisome matrix (GO:0016558)2.77044326
141angiotensin maturation (GO:0002003)2.73401557
142positive regulation of type I interferon-mediated signaling pathway (GO:0060340)2.73080870
143diacylglycerol metabolic process (GO:0046339)2.71706673
144negative regulation of transcription regulatory region DNA binding (GO:2000678)2.64364907
145positive regulation of guanylate cyclase activity (GO:0031284)2.62555783
146somite development (GO:0061053)2.61016454
147transepithelial transport (GO:0070633)2.60918484
148head development (GO:0060322)2.60373532
149auditory receptor cell differentiation (GO:0042491)2.59894602
150interferon-gamma secretion (GO:0072643)2.59538671
151epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.59324463
152parturition (GO:0007567)2.57451995
153negative regulation of response to food (GO:0032096)2.56976513
154negative regulation of appetite (GO:0032099)2.56976513
155protein polyglutamylation (GO:0018095)2.53510431
156urinary tract smooth muscle contraction (GO:0014848)2.52173830
157vitamin A metabolic process (GO:0006776)2.51286419
158positive regulation of defense response to virus by host (GO:0002230)2.50192873
159ovulation cycle (GO:0042698)2.49416975
160nephron tubule morphogenesis (GO:0072078)2.46747828
161nephron epithelium morphogenesis (GO:0072088)2.46747828
162sulfate transmembrane transport (GO:1902358)2.45522913
163positive regulation of icosanoid secretion (GO:0032305)2.44722428
164cytidine deamination (GO:0009972)2.43750716
165cytidine metabolic process (GO:0046087)2.43750716
166cytidine catabolic process (GO:0006216)2.43750716
167negative regulation of DNA-templated transcription, elongation (GO:0032785)2.43377475
168regulation of action potential (GO:0098900)2.41098000
169detection of light stimulus involved in sensory perception (GO:0050962)2.40003006
170detection of light stimulus involved in visual perception (GO:0050908)2.40003006
171spinal cord motor neuron differentiation (GO:0021522)2.38537692
172dendritic spine morphogenesis (GO:0060997)2.38288843
173neuronal action potential (GO:0019228)2.34533535
174pyrimidine ribonucleoside catabolic process (GO:0046133)2.34412592
175positive regulation of histone deacetylation (GO:0031065)2.34202968
176nucleobase catabolic process (GO:0046113)2.32807514
177transmission of nerve impulse (GO:0019226)2.32788353
178limb development (GO:0060173)2.32290419
179appendage development (GO:0048736)2.32290419
180pyrimidine nucleobase catabolic process (GO:0006208)2.30856533
181membrane depolarization during action potential (GO:0086010)2.29739470
182DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 cla2.28372943
183tachykinin receptor signaling pathway (GO:0007217)2.28198759
184positive regulation of CREB transcription factor activity (GO:0032793)2.28071438
185presynaptic membrane assembly (GO:0097105)2.27844368
186regulation of synapse maturation (GO:0090128)2.26279367
187positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.25409521
188regulation of hippo signaling (GO:0035330)2.25014989
189negative regulation of membrane potential (GO:0045837)2.24843291
190oxidative demethylation (GO:0070989)2.23177288
191magnesium ion transport (GO:0015693)2.23069956
192aminoglycoside antibiotic metabolic process (GO:0030647)10.9660513
193drug transmembrane transport (GO:0006855)10.2357471
194urate metabolic process (GO:0046415)10.0703031

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_17901129_ChIP-ChIP_LIVER_Mouse6.05325951
2EZH2_22144423_ChIP-Seq_EOC_Human5.35749317
3RXR_22158963_ChIP-Seq_LIVER_Mouse5.19105199
4PPARA_22158963_ChIP-Seq_LIVER_Mouse4.38725798
5PPARG_19300518_ChIP-PET_3T3-L1_Mouse3.95267461
6LXR_22158963_ChIP-Seq_LIVER_Mouse3.80463331
7ESR1_21235772_ChIP-Seq_MCF-7_Human3.77232152
8HNF4A_19761587_ChIP-ChIP_CACO-2_Human3.00886192
9TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.74256605
10TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.73104782
11STAT6_21828071_ChIP-Seq_BEAS2B_Human2.57561261
12ESRRB_18555785_ChIP-Seq_MESCs_Mouse2.53461525
13TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.41274671
14ESR2_21235772_ChIP-Seq_MCF-7_Human2.41186296
15CDX2_20551321_ChIP-Seq_CACO-2_Human2.36350682
16ZNF274_21170338_ChIP-Seq_K562_Hela2.35487361
17CHD7_19251738_ChIP-ChIP_MESCs_Mouse2.30300450
18* AR_21909140_ChIP-Seq_LNCAP_Human2.23782308
19RARG_19884340_ChIP-ChIP_MEFs_Mouse2.21473673
20HOXA2_22223247_ChIP-Seq_E11.5_EMBRYO_Mouse2.09224479
21EED_16625203_ChIP-ChIP_MESCs_Mouse2.07537085
22CLOCK_20551151_ChIP-Seq_293T_Human2.07054027
23JARID2_20064375_ChIP-Seq_MESCs_Mouse2.03053811
24TRIM28_21343339_ChIP-Seq_HEK293_Human2.02534219
25CBX2_27304074_Chip-Seq_ESCs_Mouse2.00920160
26NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.99982461
27RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.98920147
28DROSHA_22980978_ChIP-Seq_HELA_Human1.94411684
29* JARID2_20075857_ChIP-Seq_MESCs_Mouse1.92029095
30TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.91936265
31EZH2_27294783_Chip-Seq_ESCs_Mouse1.90921555
32STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.89897029
33SUZ12_27294783_Chip-Seq_ESCs_Mouse1.89624554
34EZH2_27304074_Chip-Seq_ESCs_Mouse1.88799615
35BMI1_23680149_ChIP-Seq_NPCS_Mouse1.84334037
36VDR_22108803_ChIP-Seq_LS180_Human1.83829438
37IRF1_19129219_ChIP-ChIP_H3396_Human1.83681059
38PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.82411209
39REST_21632747_ChIP-Seq_MESCs_Mouse1.78539858
40* SOX2_27498859_Chip-Seq_STOMACH_Mouse1.77877119
41FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.72548450
42NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.65440756
43GATA4_25053715_ChIP-Seq_YYC3_Human1.64163144
44HNF4A_19822575_ChIP-Seq_HepG2_Human1.63868338
45FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.63311894
46SUZ12_16625203_ChIP-ChIP_MESCs_Mouse1.60269248
47ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.58387871
48FOXA2_19822575_ChIP-Seq_HepG2_Human1.57622390
49ZFP57_27257070_Chip-Seq_ESCs_Mouse1.53848788
50LXR_22292898_ChIP-Seq_THP-1_Human1.52602696
51SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.52590185
52EGR1_23403033_ChIP-Seq_LIVER_Mouse1.52336376
53IKZF1_21737484_ChIP-ChIP_HCT116_Human1.52022191
54ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.51849585
55RNF2_27304074_Chip-Seq_ESCs_Mouse1.46714337
56SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.41933434
57GBX2_23144817_ChIP-Seq_PC3_Human1.41182477
58IRF8_22096565_ChIP-ChIP_GC-B_Human1.40598194
59RNF2_18974828_ChIP-Seq_MESCs_Mouse1.40230524
60EZH2_18974828_ChIP-Seq_MESCs_Mouse1.40230524
61EGR1_19032775_ChIP-ChIP_M12_Human1.36923562
62TDRD3_21172665_ChIP-Seq_MCF-7_Human1.36891502
63MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.36701602
64ERA_21632823_ChIP-Seq_H3396_Human1.36118728
65FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.33861883
66CTBP1_25329375_ChIP-Seq_LNCAP_Human1.33307920
67CDX2_19796622_ChIP-Seq_MESCs_Mouse1.32956631
68CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.31942095
69PIAS1_25552417_ChIP-Seq_VCAP_Human1.31269045
70CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.30616410
71SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.30242367
72EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.30232122
73* FOXO3_23340844_ChIP-Seq_DLD1_Human1.29867819
74EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.29583900
75* RACK7_27058665_Chip-Seq_MCF-7_Human1.29164670
76ESR1_20079471_ChIP-ChIP_T-47D_Human1.28262993
77RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.26953913
78BCAT_22108803_ChIP-Seq_LS180_Human1.26630389
79* GATA6_25053715_ChIP-Seq_YYC3_Human1.26102647
80IGF1R_20145208_ChIP-Seq_DFB_Human1.25885966
81ETV2_25802403_ChIP-Seq_MESCs_Mouse1.24466911
82BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.22583945
83RXR_22108803_ChIP-Seq_LS180_Human1.21810909
84POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.18762364
85TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.18762364
86SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.18665079
87STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.16275046
88ER_23166858_ChIP-Seq_MCF-7_Human1.15541950
89TP63_19390658_ChIP-ChIP_HaCaT_Human1.15297064
90BCL6_27268052_Chip-Seq_Bcells_Human1.14740080
91SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.14641717
92CTBP2_25329375_ChIP-Seq_LNCAP_Human1.13879402
93STAT3_1855785_ChIP-Seq_MESCs_Mouse1.13244327
94* NCOR_22424771_ChIP-Seq_293T_Human1.13013939
95* CTCF_27219007_Chip-Seq_Bcells_Human1.12877653
96NANOG_20526341_ChIP-Seq_ESCs_Human1.12455936
97WDR5_24793694_ChIP-Seq_LNCAP_Human1.11119405
98SOX2_20726797_ChIP-Seq_SW620_Human1.10270242
99PPAR_26484153_Chip-Seq_NCI-H1993_Human1.09647393
100SMAD3_21741376_ChIP-Seq_HESCs_Human1.09443356
101GATA3_21878914_ChIP-Seq_MCF-7_Human1.08774665
102ZFP322A_24550733_ChIP-Seq_MESCs_Mouse1.08699348
103* AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.08333431
104TBX20_22328084_ChIP-Seq_HEART_Mouse1.07633563
105TBX20_22080862_ChIP-Seq_HEART_Mouse1.07633563
106SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.06945110
107RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.05045260
108PHC1_16625203_ChIP-ChIP_MESCs_Mouse1.04484947
109REST_18959480_ChIP-ChIP_MESCs_Mouse1.04429515
110SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.04235446
111* E2F1_20622854_ChIP-Seq_HELA_Human1.03396047
112MYC_20876797_ChIP-ChIP_MEDULLOBLASTOMA_Human1.03185491
113CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.02646062
114RNF2_27304074_Chip-Seq_NSC_Mouse1.02256423
115PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.02184323
116NR3C1_21868756_ChIP-Seq_MCF10A_Human1.01437684
117RING1B_27294783_Chip-Seq_ESCs_Mouse1.01401381
118CDX2_22108803_ChIP-Seq_LS180_Human0.99877932
119CBP_20019798_ChIP-Seq_JUKART_Human0.99549030
120IRF4_20064451_ChIP-Seq_CD4+T_Mouse0.99549030
121AUTS2_25519132_ChIP-Seq_293T-REX_Human0.99393872
122SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.99028540
123EWS_26573619_Chip-Seq_HEK293_Human0.99014697
124TFAP2C_20629094_ChIP-Seq_MCF-7_Human0.98039129
125RUNX_20019798_ChIP-Seq_JUKART_Human0.97937827
126P53_21459846_ChIP-Seq_SAOS-2_Human0.97235233
127* PHF8_20622854_ChIP-Seq_HELA_Human0.96476138
128OCT4_19829295_ChIP-Seq_ESCs_Human0.96065586
129FUS_26573619_Chip-Seq_HEK293_Human0.95756033
130ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.94834113
131TP53_20018659_ChIP-ChIP_R1E_Mouse0.94499598
132NR4A2_19515692_ChIP-ChIP_MN9D_Mouse0.94397102
133OCT4_20526341_ChIP-Seq_ESCs_Human0.94297501
134CTCF_20526341_ChIP-Seq_ESCs_Human0.94296903
135FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.94234334
136EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.94205957
137* P68_20966046_ChIP-Seq_HELA_Human0.92970215
138MYC_19829295_ChIP-Seq_ESCs_Human0.92837627
139STAT3_23295773_ChIP-Seq_U87_Human0.92705569
140PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human0.92123682
141EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human0.92009118
142IRF1_21803131_ChIP-Seq_MONOCYTES_Human0.91167326
143PRDM14_20953172_ChIP-Seq_ESCs_Human0.91075574
144NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.90662363
145EP300_21415370_ChIP-Seq_HL-1_Mouse0.90319206
146BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.89568820
147RBPJ_21746931_ChIP-Seq_IB4-LCL_Human0.88894744
148ZIC3_20872845_ChIP-ChIP_MESCs_Mouse0.88713824
149CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.88664032
150TP53_22573176_ChIP-Seq_HFKS_Human0.88643364
151ERG_21242973_ChIP-ChIP_JURKAT_Human0.88531044
152CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.87574238
153GLI1_17442700_ChIP-ChIP_MESCs_Mouse0.86506285
154SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.84839071
155MYC_19915707_ChIP-ChIP_AK7_Human0.84324941
156P63_20808887_ChIP-Seq_KERATINOCYTES_Human0.83504347
157* GATA2_20887958_ChIP-Seq_HPC-7_Mouse0.83265645
158WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.81825712
159TP63_23658742_ChIP-Seq_EP156T_Human0.80471269
160SMAD4_21741376_ChIP-Seq_HESCs_Human0.76961603
161CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.76713109
162ARNT_22903824_ChIP-Seq_MCF-7_Human0.76060824
163GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.75826287
164VDR_24787735_ChIP-Seq_THP-1_Human0.75203882
165RAD21_21589869_ChIP-Seq_MESCs_Mouse0.74891971
166PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse0.74804186
167SMC4_20622854_ChIP-Seq_HELA_Human0.73978338
168* KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human0.73050506
169RAC3_21632823_ChIP-Seq_H3396_Human0.72716655
170CEBPB_22108803_ChIP-Seq_LS180_Human0.72338927
171STAT1_17558387_ChIP-Seq_HELA_Human0.71927723
172WT1_25993318_ChIP-Seq_PODOCYTE_Human0.71905566
173AR_20517297_ChIP-Seq_VCAP_Human0.71825189
174TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.70987824
175GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse0.70884696
176MTF2_20144788_ChIP-Seq_MESCs_Mouse0.70806435
177BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.70732819
178GATA2_19941826_ChIP-Seq_K562_Human0.70072595
179ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human0.69198281
180TAF2_19829295_ChIP-Seq_ESCs_Human0.68815826
181AHR_22903824_ChIP-Seq_MCF-7_Human0.68448800
182* TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human0.68009347
183TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.66560730
184GATA1_19941827_ChIP-Seq_MEL86_Mouse0.66355736
185HOXD13_18407260_ChIP-ChIP_DEVELOPING-LIMBS_Mouse0.66261947
186CREB1_26743006_Chip-Seq_LNCaP_Human0.65812412

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis7.93011605
2MP0004043_abnormal_pH_regulation6.64640631
3MP0004019_abnormal_vitamin_homeostasis5.11887172
4* MP0005332_abnormal_amino_acid4.73191117
5MP0002139_abnormal_hepatobiliary_system4.63751531
6MP0001765_abnormal_ion_homeostasis4.04851218
7MP0009643_abnormal_urine_homeostasis4.03188823
8MP0003195_calcinosis3.73091411
9MP0002138_abnormal_hepatobiliary_system3.44738651
10MP0005636_abnormal_mineral_homeostasis3.28531293
11MP0001756_abnormal_urination3.16514849
12MP0003878_abnormal_ear_physiology2.98627691
13MP0005377_hearing/vestibular/ear_phenot2.98627691
14MP0008875_abnormal_xenobiotic_pharmacok2.88768416
15* MP0002136_abnormal_kidney_physiology2.87002746
16MP0001958_emphysema2.52664929
17MP0001968_abnormal_touch/_nociception2.31305414
18MP0003252_abnormal_bile_duct2.28570720
19MP0005365_abnormal_bile_salt2.27728910
20MP0001986_abnormal_taste_sensitivity2.20217945
21MP0004130_abnormal_muscle_cell2.18040914
22MP0005058_abnormal_lysosome_morphology2.14780369
23MP0005085_abnormal_gallbladder_physiolo2.12522399
24MP0002837_dystrophic_cardiac_calcinosis2.01501382
25MP0009379_abnormal_foot_pigmentation1.99138712
26MP0005174_abnormal_tail_pigmentation1.95930353
27MP0002653_abnormal_ependyma_morphology1.95542566
28MP0004885_abnormal_endolymph1.86321540
29MP0000538_abnormal_urinary_bladder1.83997936
30MP0002735_abnormal_chemical_nociception1.83790302
31MP0004133_heterotaxia1.75721390
32MP0008961_abnormal_basal_metabolism1.73434538
33MP0002736_abnormal_nociception_after1.70222238
34MP0006292_abnormal_olfactory_placode1.69349672
35MP0008872_abnormal_physiological_respon1.68629122
36MP0005646_abnormal_pituitary_gland1.68029290
37MP0005551_abnormal_eye_electrophysiolog1.66992018
38MP0005584_abnormal_enzyme/coenzyme_acti1.65764362
39MP0000569_abnormal_digit_pigmentation1.62654174
40MP0001188_hyperpigmentation1.60873975
41MP0003186_abnormal_redox_activity1.60120777
42MP0005451_abnormal_body_composition1.54221053
43MP0000631_abnormal_neuroendocrine_gland1.46345135
44MP0003136_yellow_coat_color1.45871080
45MP0003787_abnormal_imprinting1.44994022
46MP0004142_abnormal_muscle_tone1.44423384
47MP0003300_gastrointestinal_ulcer1.40160856
48MP0005319_abnormal_enzyme/_coenzyme1.39974044
49MP0002272_abnormal_nervous_system1.39231555
50MP0002733_abnormal_thermal_nociception1.37744100
51MP0000049_abnormal_middle_ear1.37190803
52MP0001970_abnormal_pain_threshold1.36101070
53MP0006036_abnormal_mitochondrial_physio1.32657397
54MP0002160_abnormal_reproductive_system1.29493201
55MP0002638_abnormal_pupillary_reflex1.29159100
56MP0004145_abnormal_muscle_electrophysio1.28597615
57MP0008877_abnormal_DNA_methylation1.27604932
58MP0002896_abnormal_bone_mineralization1.27375237
59MP0001666_abnormal_nutrient_absorption1.27264696
60MP0002822_catalepsy1.27193487
61MP0001486_abnormal_startle_reflex1.26943681
62MP0003011_delayed_dark_adaptation1.26499130
63MP0000230_abnormal_systemic_arterial1.25320646
64MP0009745_abnormal_behavioral_response1.24792798
65MP0002876_abnormal_thyroid_physiology1.24547850
66MP0005084_abnormal_gallbladder_morpholo1.23065608
67MP0002557_abnormal_social/conspecific_i1.20587987
68MP0008775_abnormal_heart_ventricle1.19783868
69MP0000026_abnormal_inner_ear1.19561719
70MP0003183_abnormal_peptide_metabolism1.19330585
71MP0000537_abnormal_urethra_morphology1.17402068
72MP0003806_abnormal_nucleotide_metabolis1.15669192
73MP0002168_other_aberrant_phenotype1.15495328
74MP0004264_abnormal_extraembryonic_tissu1.15148109
75MP0005645_abnormal_hypothalamus_physiol1.14287859
76MP0003122_maternal_imprinting1.12818062
77MP0002249_abnormal_larynx_morphology1.12541711
78MP0002928_abnormal_bile_duct1.11807055
79MP0004924_abnormal_behavior1.11434722
80MP0005386_behavior/neurological_phenoty1.11434722
81MP0005448_abnormal_energy_balance1.11128995
82MP0005389_reproductive_system_phenotype1.10873981
83MP0001440_abnormal_grooming_behavior1.10585715
84MP0005671_abnormal_response_to1.10329186
85MP0003890_abnormal_embryonic-extraembry1.09740420
86MP0002064_seizures1.08748052
87MP0001502_abnormal_circadian_rhythm1.08335294
88MP0002277_abnormal_respiratory_mucosa1.07896393
89MP0001905_abnormal_dopamine_level1.07121060
90MP0002572_abnormal_emotion/affect_behav1.05854022
91MP0001764_abnormal_homeostasis1.05548483
92MP0002102_abnormal_ear_morphology1.05447002
93MP0005535_abnormal_body_temperature1.04974896
94MP0004147_increased_porphyrin_level1.03915290
95MP0002734_abnormal_mechanical_nocicepti1.03338222
96MP0003866_abnormal_defecation1.02684694
97MP0001501_abnormal_sleep_pattern1.01316325
98MP0005670_abnormal_white_adipose1.00198045
99* MP0002135_abnormal_kidney_morphology0.99405978
100MP0005666_abnormal_adipose_tissue0.96973816
101MP0003121_genomic_imprinting0.96948522
102MP0006072_abnormal_retinal_apoptosis0.96386426
103MP0005409_darkened_coat_color0.94461149
104MP0002067_abnormal_sensory_capabilities0.94041778
105MP0003123_paternal_imprinting0.93403419
106MP0000427_abnormal_hair_cycle0.92848078
107MP0002089_abnormal_postnatal_growth/wei0.92779171
108MP0003938_abnormal_ear_development0.90970002
109MP0005423_abnormal_somatic_nervous0.89723996
110MP0002118_abnormal_lipid_homeostasis0.88898745
111MP0001873_stomach_inflammation0.87766156
112MP0005220_abnormal_exocrine_pancreas0.86883835
113MP0002063_abnormal_learning/memory/cond0.86665539
114MP0003635_abnormal_synaptic_transmissio0.86161990
115MP0002938_white_spotting0.85706553
116MP0009384_cardiac_valve_regurgitation0.85225876
117MP0002752_abnormal_somatic_nervous0.83667230
118MP0000747_muscle_weakness0.82220815
119MP0003638_abnormal_response/metabolism_0.81417132
120MP0003191_abnormal_cellular_cholesterol0.81358709
121MP0010234_abnormal_vibrissa_follicle0.81226921
122MP0002932_abnormal_joint_morphology0.80403016
123MP0003172_abnormal_lysosome_physiology0.78128046
124MP0003283_abnormal_digestive_organ0.76817405
125* MP0009642_abnormal_blood_homeostasis0.74602716
126MP0001485_abnormal_pinna_reflex0.71170710
127MP0010329_abnormal_lipoprotein_level0.64077777
128MP0003646_muscle_fatigue0.63705718
129MP0004742_abnormal_vestibular_system0.60056575
130MP0002115_abnormal_skeleton_extremities0.60024581
131MP0000371_diluted_coat_color0.59851827
132MP0000609_abnormal_liver_physiology0.59519792
133MP0002796_impaired_skin_barrier0.59116976
134MP0005395_other_phenotype0.58865367
135MP0009780_abnormal_chondrocyte_physiolo0.57168427
136MP0001661_extended_life_span0.56565702
137MP0003795_abnormal_bone_structure0.54412759
138MP0003959_abnormal_lean_body0.52479265
139MP0004858_abnormal_nervous_system0.52467360
140MP0003329_amyloid_beta_deposits0.52159809
141MP0003879_abnormal_hair_cell0.51495419
142MP0002078_abnormal_glucose_homeostasis0.51147282
143MP0000598_abnormal_liver_morphology0.51065277
144MP0005408_hypopigmentation0.50845853
145MP0008469_abnormal_protein_level0.49850644
146MP0001663_abnormal_digestive_system0.49772821
147MP0005165_increased_susceptibility_to0.49663727
148MP0003953_abnormal_hormone_level0.48952862
149MP0002069_abnormal_eating/drinking_beha0.47694756
150MP0004484_altered_response_of0.45507631
151MP0005501_abnormal_skin_physiology0.44830217
152MP0002098_abnormal_vibrissa_morphology0.44598525
153MP0002998_abnormal_bone_remodeling0.43068049
154MP0006035_abnormal_mitochondrial_morpho0.42199037
155MP0000163_abnormal_cartilage_morphology0.41796300
156MP0010386_abnormal_urinary_bladder0.41714946
157MP0000678_abnormal_parathyroid_gland0.40657140
158MP0005375_adipose_tissue_phenotype0.40415975
159MP0000534_abnormal_ureter_morphology0.39598884
160MP0009672_abnormal_birth_weight0.39476774
161MP0005166_decreased_susceptibility_to0.38845310
162MP0001664_abnormal_digestion0.38111921
163MP0001731_abnormal_postnatal_growth0.37708064
164MP0003221_abnormal_cardiomyocyte_apopto0.35829102
165MP0005381_digestive/alimentary_phenotyp0.35494415
166MP0004272_abnormal_basement_membrane0.34980908
167MP0003075_altered_response_to0.34327561
168MP0003315_abnormal_perineum_morphology0.32686237
169MP0004233_abnormal_muscle_weight0.31136652
170MP0001963_abnormal_hearing_physiology0.30892949
171MP0002113_abnormal_skeleton_development0.30029450

Predicted human phenotypes

RankGene SetZ-score
1Increased circulating renin level (HP:0000848)7.96537353
2Metabolic alkalosis (HP:0200114)7.44226143
3Hypokalemic alkalosis (HP:0001949)7.41579524
4Hypomagnesemia (HP:0002917)7.01427831
5Hyperactive renin-angiotensin system (HP:0000841)6.89002049
6Polyuria (HP:0000103)6.68381552
7Gout (HP:0001997)6.60747217
8Abnormality of chloride homeostasis (HP:0011422)6.33071063
9Abnormal urine output (HP:0012590)6.28487827
10Abnormality of renal excretion (HP:0011036)6.03355949
11Abnormality of magnesium homeostasis (HP:0004921)5.94031853
12Abnormal drinking behavior (HP:0030082)5.54893661
13Polydipsia (HP:0001959)5.54893661
14Proximal tubulopathy (HP:0000114)5.47717120
15Abnormality of renin-angiotensin system (HP:0000847)4.92957799
16Increased purine levels (HP:0004368)4.85857826
17Hyperuricemia (HP:0002149)4.85857826
18Renal salt wasting (HP:0000127)4.82040308
19Alkalosis (HP:0001948)4.81592411
20Hyperglycinuria (HP:0003108)4.78452454
21Tetany (HP:0001281)4.77436961
22Hyperaldosteronism (HP:0000859)4.76900227
23Abnormality of glutamine family amino acid metabolism (HP:0010902)4.75644806
24Abnormality of purine metabolism (HP:0004352)4.29836176
25Generalized aminoaciduria (HP:0002909)4.16623451
26Genetic anticipation (HP:0003743)4.02307983
27Congenital stationary night blindness (HP:0007642)3.95581532
28Hypercalciuria (HP:0002150)3.92934578
29Abnormality of serine family amino acid metabolism (HP:0010894)3.90899828
30Abnormality of glycine metabolism (HP:0010895)3.90899828
31Hypokalemia (HP:0002900)3.77031059
32Abnormality of urine glucose concentration (HP:0011016)3.64446854
33Glycosuria (HP:0003076)3.64446854
34Renal tubular acidosis (HP:0001947)3.59050972
35Ketoacidosis (HP:0001993)3.54472701
36Cutaneous melanoma (HP:0012056)3.35793056
37Progressive cerebellar ataxia (HP:0002073)3.33805097
38Pancreatic cysts (HP:0001737)3.31192953
39Abnormality of proline metabolism (HP:0010907)3.24062981
40Hydroxyprolinuria (HP:0003080)3.24062981
41Hyperphosphaturia (HP:0003109)3.21372492
42Ketosis (HP:0001946)3.20423567
43Abnormality of the vitamin B12 metabolism (HP:0004341)3.17639983
44Abnormality of potassium homeostasis (HP:0011042)3.16927030
45Abnormality of nucleobase metabolism (HP:0010932)3.13593294
46Congenital sensorineural hearing impairment (HP:0008527)3.05952660
47Clumsiness (HP:0002312)3.05457613
48Abnormal urine phosphate concentration (HP:0012599)3.02669085
49Delayed epiphyseal ossification (HP:0002663)3.02103502
50Abnormality of vitamin B metabolism (HP:0004340)2.98387310
51Methylmalonic acidemia (HP:0002912)2.94273539
52Abnormality of fatty-acid metabolism (HP:0004359)2.87837884
53Nephronophthisis (HP:0000090)2.87635456
54Nephrocalcinosis (HP:0000121)2.87612684
55Pancreatic fibrosis (HP:0100732)2.82738325
56Molar tooth sign on MRI (HP:0002419)2.79068984
57Abnormality of midbrain morphology (HP:0002418)2.79068984
58Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)2.78055274
59Short 4th metacarpal (HP:0010044)2.78055274
60Pendular nystagmus (HP:0012043)2.77559058
61True hermaphroditism (HP:0010459)2.75582602
62Short femoral neck (HP:0100864)2.74217038
63Nephrolithiasis (HP:0000787)2.72203270
64Abnormality of aspartate family amino acid metabolism (HP:0010899)2.70680269
65Hyperventilation (HP:0002883)2.69205583
66Hyperglycinemia (HP:0002154)2.66698926
67Hypophosphatemia (HP:0002148)2.63233151
68Vascular calcification (HP:0004934)2.61552066
69Widely patent fontanelles and sutures (HP:0004492)2.60794389
70Abolished electroretinogram (ERG) (HP:0000550)2.58482696
71Abnormality of the renal medulla (HP:0100957)2.56392987
72Abnormality of sodium homeostasis (HP:0010931)2.56219479
73Absent rod-and cone-mediated responses on ERG (HP:0007688)2.55241004
74Rickets (HP:0002748)2.51804968
75Meningioma (HP:0002858)2.50447774
76Dehydration (HP:0001944)2.49674324
77Vacuolated lymphocytes (HP:0001922)2.48725619
78Delayed CNS myelination (HP:0002188)2.48280700
79Aplasia/Hypoplasia of the patella (HP:0006498)2.48021674
80Hyponatremia (HP:0002902)2.47944701
81Aplasia/Hypoplasia involving the femoral head and neck (HP:0009108)2.47489082
82Metaphyseal cupping (HP:0003021)2.45374823
83Abnormality of renal resorption (HP:0011038)2.43878120
84Aplasia/Hypoplasia of the tibia (HP:0005772)2.41916708
85Pigmentary retinal degeneration (HP:0001146)2.41229237
86Patellar aplasia (HP:0006443)2.40438192
87Cystic liver disease (HP:0006706)2.38830683
88Hyperammonemia (HP:0001987)2.38764218
89Chorioretinal atrophy (HP:0000533)2.36324254
90Cardiovascular calcification (HP:0011915)2.32619480
91Malnutrition (HP:0004395)2.31817178
92Abnormality of the proximal phalanges of the hand (HP:0009834)2.31227312
93Dicarboxylic aciduria (HP:0003215)2.30681041
94Abnormality of dicarboxylic acid metabolism (HP:0010995)2.30681041
95Enlarged kidneys (HP:0000105)2.28529143
96Chronic hepatic failure (HP:0100626)2.25172923
97Abnormality of the phalanges of the 2nd finger (HP:0009541)2.24632188
98Metabolic acidosis (HP:0001942)2.23872132
99Vomiting (HP:0002013)2.23125475
100Confusion (HP:0001289)2.22361694
101Hypoplasia of the ulna (HP:0003022)2.21444162
102Renal tubular dysfunction (HP:0000124)2.21118456
103Abnormality of the renal cortex (HP:0011035)2.20231042
104Type II lissencephaly (HP:0007260)2.20216630
105Abnormal rod and cone electroretinograms (HP:0008323)2.18839316
106Abnormality of the 4th metacarpal (HP:0010012)2.16681189
107Adrenal overactivity (HP:0002717)2.15734535
108Decreased electroretinogram (ERG) amplitude (HP:0000654)2.13945118
109Agitation (HP:0000713)2.10678468
110Decreased central vision (HP:0007663)2.10372551
111Rib fusion (HP:0000902)2.09663374
112Abnormal enzyme/coenzyme activity (HP:0012379)2.09605589
113Thin bony cortex (HP:0002753)2.09300273
114Concave nail (HP:0001598)2.08623145
115Abnormality of aromatic amino acid family metabolism (HP:0004338)2.08087439
116Methylmalonic aciduria (HP:0012120)2.07823883
117Attenuation of retinal blood vessels (HP:0007843)2.07732799
118Stomach cancer (HP:0012126)2.06008098
119Abnormality of alkaline phosphatase activity (HP:0004379)2.04061591
120Furrowed tongue (HP:0000221)2.02885704
121Abnormality of sulfur amino acid metabolism (HP:0004339)2.00827544
122Bilateral sensorineural hearing impairment (HP:0008619)2.00529426
123Short tibia (HP:0005736)2.00015398
124Lethargy (HP:0001254)1.95520057
125Abnormal albumin level (HP:0012116)1.95496342
126Hypoalbuminemia (HP:0003073)1.95496342
127Aplasia/hypoplasia of the femur (HP:0005613)1.94853792
128Decreased circulating renin level (HP:0003351)1.94830566
129Gaze-evoked nystagmus (HP:0000640)1.93760471
130Abnormality of the renal collecting system (HP:0004742)1.93755638
131Abnormal tarsal ossification (HP:0008369)1.93492039
132Aplasia/Hypoplasia involving the pelvis (HP:0009103)1.93212637
133Hemiplegia (HP:0002301)1.93147751
134Absent thumb (HP:0009777)1.92215427
135Acanthocytosis (HP:0001927)1.88589581
136Aplasia/Hypoplasia of the spleen (HP:0010451)1.88487718
137Symphalangism affecting the phalanges of the hand (HP:0009773)1.88423053
138Osteomalacia (HP:0002749)1.88292215
139Abnormality of the costochondral junction (HP:0000919)1.88268551
140Sensorimotor neuropathy (HP:0007141)1.87726875
141Tubulointerstitial fibrosis (HP:0005576)1.87471834
142Hypoplasia of the pons (HP:0012110)1.86482198
143Chondrocalcinosis (HP:0000934)1.86438407
144Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.84446303
145Potter facies (HP:0002009)1.82630303
146Facial shape deformation (HP:0011334)1.82630303
147Short 1st metacarpal (HP:0010034)1.82295264
148Aplasia/Hypoplasia of the 1st metacarpal (HP:0010026)1.82295264
149Abnormality of the nasal septum (HP:0000419)1.82232714
150Abnormality of the 1st metacarpal (HP:0010009)1.80038710
151Irritability (HP:0000737)1.78849120
152Abnormality of DNA repair (HP:0003254)1.78050605
153Abnormality of vitamin metabolism (HP:0100508)1.77449578
154Bony spicule pigmentary retinopathy (HP:0007737)1.77018310
155Congenital, generalized hypertrichosis (HP:0004540)1.76909540
156Asplenia (HP:0001746)1.76895823
157Abnormality of the middle phalanges of the toes (HP:0010183)1.76782715
158Glomerulosclerosis (HP:0000096)1.75540878
159Increased corneal curvature (HP:0100692)1.75145952
160Keratoconus (HP:0000563)1.75145952
161Tubular atrophy (HP:0000092)1.74467926
162Lymphangioma (HP:0100764)1.74300558
163Enlarged epiphyses (HP:0010580)1.73982473
164Aplasia/Hypoplasia of the ulna (HP:0006495)1.73980328
165Abnormality of Sharpey fibers (HP:0100685)1.73700428
166Protruding tongue (HP:0010808)1.73578904
167Impaired smooth pursuit (HP:0007772)1.72645025
168Abnormal number of erythroid precursors (HP:0012131)1.72236505
169Hypotension (HP:0002615)1.71167539
170Nausea (HP:0002018)1.70805482
171IgG deficiency (HP:0004315)1.69378429
172Metaphyseal irregularity (HP:0003025)1.69374265
173Hypoplasia of the radius (HP:0002984)1.67678783
174Short phalanx of the thumb (HP:0009660)1.66962914
175Fibular hypoplasia (HP:0003038)1.66267374
176Cerebral palsy (HP:0100021)1.66168828
177Aplasia/Hypoplasia of the fibula (HP:0006492)1.66035035
178Elevated alkaline phosphatase (HP:0003155)1.64979604
179Axonal loss (HP:0003447)1.64724012
180Bicornuate uterus (HP:0000813)1.64697705
181Generalized muscle weakness (HP:0003324)1.62038929
182Protuberant abdomen (HP:0001538)1.61935482
183Abnormality of serum amino acid levels (HP:0003112)1.61260949

Predicted kinase interactions (KEA)

RankGene SetZ-score
1WNK49.21043597
2OXSR17.48544602
3WNK37.46235285
4STK395.19557670
5BCKDK3.38171662
6TLK13.32615735
7ACVR1B3.31442695
8GRK12.67254613
9ADRBK22.64097045
10STK38L2.39634359
11TAOK32.34202037
12ZAK2.24968742
13PDK32.21981737
14PDK42.21981737
15BMPR1B2.01846041
16WNK11.95237253
17SGK4941.82634184
18SGK2231.82634184
19FGFR21.80429285
20NEK11.79571975
21SIK21.72066896
22MAPK131.63230526
23TXK1.61640123
24PDK21.61450492
25CASK1.60431944
26MAP4K21.30674219
27STK381.25115462
28NUAK11.24009604
29PIK3CA1.21516415
30MST41.18374580
31NTRK21.16937698
32MST1R1.16450394
33DAPK21.14969615
34ADRBK11.12363527
35BLK1.10943160
36MAP2K21.06673917
37SYK1.02331632
38DYRK21.02139922
39ERBB21.01513657
40AKT30.99296839
41RPS6KA60.96317375
42SGK20.94551650
43MAP3K130.94459199
44SGK30.93260125
45GRK60.92043312
46IKBKB0.89718513
47EPHB10.85994365
48FGFR40.84820654
49MAP2K60.83617234
50LRRK20.81243258
51TNIK0.80892246
52RPS6KA20.75199323
53EPHB20.74127270
54BTK0.73683462
55GSK3A0.73360496
56NEK20.69497825
57TYRO30.69160379
58LCK0.67646747
59PINK10.67572046
60CHUK0.67363119
61CAMKK10.66551460
62RPS6KL10.64010590
63RPS6KC10.64010590
64NLK0.63872760
65MAP3K70.63575425
66TEC0.62580710
67GRK70.62291658
68KIT0.60585554
69SGK10.59522306
70LYN0.58757386
71ERN10.55912343
72CAMK10.55899871
73MARK20.55731028
74IKBKE0.55730540
75MAP2K70.55306892
76LATS10.52371509
77TAOK10.52221267
78FRK0.52117689
79RPS6KA50.50789069
80MAP3K110.50618539
81PTK20.49396644
82PDPK10.48829904
83MAP3K30.47614269
84CAMKK20.47114543
85FER0.47010995
86PTK60.46510904
87FES0.45139225
88DYRK1B0.44538862
89INSRR0.43841441
90PRKCE0.43643073
91MUSK0.42342815
92NTRK30.42260052
93HIPK20.42143230
94PRKAA10.41675008
95MARK10.40843978
96GRK50.40766830
97RIPK40.40110113
98MAPKAPK30.39300404
99DYRK30.37619691
100ABL20.36561502
101TGFBR20.36195853
102MAP2K40.35970964
103TIE10.35942296
104PDK10.35843579
105MET0.34641815
106MAPK110.34637320
107IRAK30.34176844
108PAK40.33784204
109PRKCI0.33154460
110PRKAA20.31986367
111NME20.30412922
112MAP3K20.28877576
113MYLK0.28110056
114MAP3K40.25538282
115PRKD20.25242516
116PRKCZ0.23875614
117STK100.22624031
118PAK30.21239928
119IRAK20.19972103
120NTRK10.19654308
121NME10.18021239
122STK110.17758601
123PTK2B0.17170795
124TRIB30.16787198
125PRKACG0.16019802
126PRKCD0.15055264
127BMX0.14879068
128ITK0.14764721
129PRKCH0.14196422
130MAPK150.14181276
131RIPK10.13694085
132MINK10.12629954
133JAK20.12152156
134PRKCA0.11512847
135IRAK10.10408378
136PRKACA0.09750756
137AKT20.08673883
138TNK20.08197601
139ERBB40.08053023
140MAP4K10.07902752
141PRKCQ0.07423540
142EPHA40.07248877
143MAPK120.06969760
144CSNK1G10.06891584
145INSR0.05541721
146PIM10.05373858
147CSNK1A10.05283811
148MAP3K140.04909454
149MAP2K30.04333034
150CAMK40.03289068
151SRC0.02821232
152MTOR0.02410841
153SCYL20.01594909
154RPS6KA30.00693948
155PRKACB0.00176109
156CSK0.00101945
157CSNK1E-0.0205462
158CDK5-0.0200702
159PRKCG-0.0162343
160NEK9-0.0055301
161CAMK1G-0.0039619
162ROCK1-0.0011755

Predicted pathways (KEGG)

RankGene SetZ-score
1Cyanoamino acid metabolism_Homo sapiens_hsa004603.68614626
2Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049643.58711871
3Butanoate metabolism_Homo sapiens_hsa006503.52083679
4Synthesis and degradation of ketone bodies_Homo sapiens_hsa000723.34140809
5Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.25171372
6Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006303.16448979
7Valine, leucine and isoleucine degradation_Homo sapiens_hsa002803.14568441
8Propanoate metabolism_Homo sapiens_hsa006403.14283547
9Pentose and glucuronate interconversions_Homo sapiens_hsa000402.81818855
10Linoleic acid metabolism_Homo sapiens_hsa005912.81740460
112-Oxocarboxylic acid metabolism_Homo sapiens_hsa012102.69620513
12Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.59923046
13Peroxisome_Homo sapiens_hsa041462.47067384
14Pyruvate metabolism_Homo sapiens_hsa006202.43214094
15Fatty acid degradation_Homo sapiens_hsa000712.33395163
16Collecting duct acid secretion_Homo sapiens_hsa049662.30467509
17Vitamin digestion and absorption_Homo sapiens_hsa049772.27632823
18Tryptophan metabolism_Homo sapiens_hsa003802.22688351
19Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.17377122
20Nicotine addiction_Homo sapiens_hsa050332.16434963
21Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.96174777
22Phototransduction_Homo sapiens_hsa047441.92340061
23Intestinal immune network for IgA production_Homo sapiens_hsa046721.88956777
24Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.88737857
25beta-Alanine metabolism_Homo sapiens_hsa004101.87265465
26Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.86698137
27Sulfur metabolism_Homo sapiens_hsa009201.84401819
28Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.73611337
29Neuroactive ligand-receptor interaction_Homo sapiens_hsa040801.73183195
30Fatty acid metabolism_Homo sapiens_hsa012121.71793927
31Carbon metabolism_Homo sapiens_hsa012001.67907922
32Bile secretion_Homo sapiens_hsa049761.66018356
33Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.65082259
34Caffeine metabolism_Homo sapiens_hsa002321.62848448
35Glutathione metabolism_Homo sapiens_hsa004801.57029463
36Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.56845435
37Ether lipid metabolism_Homo sapiens_hsa005651.54847403
38Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.51722021
39Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.48948828
40Arginine and proline metabolism_Homo sapiens_hsa003301.43018385
41Mineral absorption_Homo sapiens_hsa049781.37731614
42Primary immunodeficiency_Homo sapiens_hsa053401.36581868
43Morphine addiction_Homo sapiens_hsa050321.32410081
44Lysine degradation_Homo sapiens_hsa003101.30760610
45Protein digestion and absorption_Homo sapiens_hsa049741.29086597
46Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.26146518
47Taste transduction_Homo sapiens_hsa047421.22260077
48Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.22136463
49Folate biosynthesis_Homo sapiens_hsa007901.16227919
50PPAR signaling pathway_Homo sapiens_hsa033201.16204912
51Starch and sucrose metabolism_Homo sapiens_hsa005001.14653862
52Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.14256114
53Asthma_Homo sapiens_hsa053101.13620716
54Other glycan degradation_Homo sapiens_hsa005111.12780174
55Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.12401228
56Arginine biosynthesis_Homo sapiens_hsa002201.11689227
57Serotonergic synapse_Homo sapiens_hsa047261.11591523
58Insulin secretion_Homo sapiens_hsa049111.11056994
59Nitrogen metabolism_Homo sapiens_hsa009101.09686242
60Cholinergic synapse_Homo sapiens_hsa047251.09119153
61Glutamatergic synapse_Homo sapiens_hsa047241.07455995
62Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.04498620
63Primary bile acid biosynthesis_Homo sapiens_hsa001201.04423520
64Histidine metabolism_Homo sapiens_hsa003401.03090624
65Selenocompound metabolism_Homo sapiens_hsa004500.99589412
66Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.98882215
67Biosynthesis of amino acids_Homo sapiens_hsa012300.98466802
68Glycerophospholipid metabolism_Homo sapiens_hsa005640.96371781
69Fructose and mannose metabolism_Homo sapiens_hsa000510.96090415
70Renin-angiotensin system_Homo sapiens_hsa046140.95943736
71Glycerolipid metabolism_Homo sapiens_hsa005610.92758170
72Cocaine addiction_Homo sapiens_hsa050300.92172295
73Phenylalanine metabolism_Homo sapiens_hsa003600.91594241
74Fanconi anemia pathway_Homo sapiens_hsa034600.89371285
75Circadian entrainment_Homo sapiens_hsa047130.88863575
76Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.87152137
77Type II diabetes mellitus_Homo sapiens_hsa049300.85715476
78Carbohydrate digestion and absorption_Homo sapiens_hsa049730.85404800
79Oxidative phosphorylation_Homo sapiens_hsa001900.79969118
80Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.79501102
81Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.79437818
82Maturity onset diabetes of the young_Homo sapiens_hsa049500.78368377
83Graft-versus-host disease_Homo sapiens_hsa053320.77207800
84Calcium signaling pathway_Homo sapiens_hsa040200.75886153
85Fatty acid elongation_Homo sapiens_hsa000620.74953589
86Renin secretion_Homo sapiens_hsa049240.69321701
87Ovarian steroidogenesis_Homo sapiens_hsa049130.68265635
88Autoimmune thyroid disease_Homo sapiens_hsa053200.67449401
89Dopaminergic synapse_Homo sapiens_hsa047280.66352009
90Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.64785139
91Thyroid hormone synthesis_Homo sapiens_hsa049180.64367463
92Dorso-ventral axis formation_Homo sapiens_hsa043200.64260407
93Olfactory transduction_Homo sapiens_hsa047400.63998588
94Vascular smooth muscle contraction_Homo sapiens_hsa042700.63940635
95Allograft rejection_Homo sapiens_hsa053300.63717000
96Lysosome_Homo sapiens_hsa041420.62892103
97GABAergic synapse_Homo sapiens_hsa047270.62876414
98Cysteine and methionine metabolism_Homo sapiens_hsa002700.62476989
99Pentose phosphate pathway_Homo sapiens_hsa000300.59900267
100Amphetamine addiction_Homo sapiens_hsa050310.55056309
101Chemical carcinogenesis_Homo sapiens_hsa052040.52929948
102Gastric acid secretion_Homo sapiens_hsa049710.51958622
103Steroid hormone biosynthesis_Homo sapiens_hsa001400.51838370
104Metabolic pathways_Homo sapiens_hsa011000.51714431
105Aldosterone synthesis and secretion_Homo sapiens_hsa049250.49817672
106Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.49278236
107Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.48604418
108Homologous recombination_Homo sapiens_hsa034400.48528901
109Basal cell carcinoma_Homo sapiens_hsa052170.48374504
110Drug metabolism - other enzymes_Homo sapiens_hsa009830.48064867
111Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.46479799
112Glycosaminoglycan degradation_Homo sapiens_hsa005310.46411549
113Parkinsons disease_Homo sapiens_hsa050120.45654461
114Long-term depression_Homo sapiens_hsa047300.45646385
115cAMP signaling pathway_Homo sapiens_hsa040240.43373761
116Vibrio cholerae infection_Homo sapiens_hsa051100.42937839
117Systemic lupus erythematosus_Homo sapiens_hsa053220.41539273
118Type I diabetes mellitus_Homo sapiens_hsa049400.41083934
119Ribosome_Homo sapiens_hsa030100.40908371
120Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.40872736
121Hematopoietic cell lineage_Homo sapiens_hsa046400.39986639
122Pancreatic secretion_Homo sapiens_hsa049720.39953770
123Hedgehog signaling pathway_Homo sapiens_hsa043400.38266758
124Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.38006656
125Axon guidance_Homo sapiens_hsa043600.35867579
126Oxytocin signaling pathway_Homo sapiens_hsa049210.35724709
127Regulation of autophagy_Homo sapiens_hsa041400.34965373
128Synaptic vesicle cycle_Homo sapiens_hsa047210.31276117
129Arachidonic acid metabolism_Homo sapiens_hsa005900.30523990
130Retinol metabolism_Homo sapiens_hsa008300.28674596
131Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.28409440
132Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.26725823
133Tyrosine metabolism_Homo sapiens_hsa003500.23553598
134ABC transporters_Homo sapiens_hsa020100.21862832
135Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.21397877
136Choline metabolism in cancer_Homo sapiens_hsa052310.20338803
137Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049320.18915118
138Galactose metabolism_Homo sapiens_hsa000520.16886465
139Alzheimers disease_Homo sapiens_hsa050100.16722542
140Cardiac muscle contraction_Homo sapiens_hsa042600.16508001
141Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.16311284
142Steroid biosynthesis_Homo sapiens_hsa001000.14295922
143Sulfur relay system_Homo sapiens_hsa041220.14184597
144Insulin resistance_Homo sapiens_hsa049310.12698914
145Sphingolipid metabolism_Homo sapiens_hsa006000.11624113
146Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.11491778
147Salivary secretion_Homo sapiens_hsa049700.10243095
148Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.09910738
149Adipocytokine signaling pathway_Homo sapiens_hsa049200.07266505
150Inositol phosphate metabolism_Homo sapiens_hsa005620.06123329
151AMPK signaling pathway_Homo sapiens_hsa041520.01947536
152Rheumatoid arthritis_Homo sapiens_hsa053230.01547730
153Glucagon signaling pathway_Homo sapiens_hsa049220.01022904
154Huntingtons disease_Homo sapiens_hsa050160.00784378
155Bladder cancer_Homo sapiens_hsa05219-0.0478722
156Hepatitis C_Homo sapiens_hsa05160-0.0458190
157Fat digestion and absorption_Homo sapiens_hsa04975-0.0387603
158alpha-Linolenic acid metabolism_Homo sapiens_hsa00592-0.0158137

Most similar genes based on co-expression Upload to Enrichr

Tissue Expression Export image »

Cell Line Expression Export image »