TFPI2

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 Kunitz-type serine proteinase inhibitor family. The protein can inhibit a variety of serine proteases including factor VIIa/tissue factor, factor Xa, plasmin, trypsin, chymotryspin and plasma kallikrein. This gene has been identified as a tumor suppressor gene in several types of cancer. Alternative splicing results in multiple transcript variants. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)7.41180304
2L-phenylalanine catabolic process (GO:0006559)7.41180304
3L-phenylalanine metabolic process (GO:0006558)7.07883393
4erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)7.07883393
5aromatic amino acid family catabolic process (GO:0009074)6.70796304
6indole-containing compound catabolic process (GO:0042436)6.07908994
7indolalkylamine catabolic process (GO:0046218)6.07908994
8tryptophan catabolic process (GO:0006569)6.07908994
9triglyceride-rich lipoprotein particle remodeling (GO:0034370)6.04875538
10positive regulation of astrocyte differentiation (GO:0048711)5.97023682
11endodermal cell differentiation (GO:0035987)5.95149081
12bile acid biosynthetic process (GO:0006699)5.93402224
13kynurenine metabolic process (GO:0070189)5.93321645
14regulation of gonadotropin secretion (GO:0032276)5.87342527
15tryptophan metabolic process (GO:0006568)5.73098046
16glyoxylate metabolic process (GO:0046487)5.71554921
17cell adhesion mediated by integrin (GO:0033627)5.63189654
18negative regulation of fibrinolysis (GO:0051918)5.60785699
19alpha-linolenic acid metabolic process (GO:0036109)5.59866786
20regulation of protein activation cascade (GO:2000257)5.55319282
21urea metabolic process (GO:0019627)5.49306180
22urea cycle (GO:0000050)5.49306180
23high-density lipoprotein particle remodeling (GO:0034375)5.40977150
24peptidyl-glutamic acid carboxylation (GO:0017187)5.36461664
25protein carboxylation (GO:0018214)5.36461664
26regulation of fibrinolysis (GO:0051917)5.36342174
27response to follicle-stimulating hormone (GO:0032354)5.35081396
28cysteine metabolic process (GO:0006534)5.34642175
29complement activation, alternative pathway (GO:0006957)5.33064028
30sulfur amino acid catabolic process (GO:0000098)5.32001686
31estrogen biosynthetic process (GO:0006703)5.25738916
32regulation of complement activation (GO:0030449)5.24294420
33bile acid metabolic process (GO:0008206)5.08129934
34nitrogen cycle metabolic process (GO:0071941)5.04520370
35mesodermal cell differentiation (GO:0048333)5.04413446
36regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)5.00782421
37chondrocyte proliferation (GO:0035988)4.97650796
38serine family amino acid catabolic process (GO:0009071)4.97146448
39fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)4.95652297
40aromatic amino acid family metabolic process (GO:0009072)4.85231926
41homocysteine metabolic process (GO:0050667)4.80882372
42reverse cholesterol transport (GO:0043691)4.76244355
43regulation of triglyceride catabolic process (GO:0010896)4.69135707
44plasma lipoprotein particle remodeling (GO:0034369)4.68319049
45protein-lipid complex remodeling (GO:0034368)4.68319049
46macromolecular complex remodeling (GO:0034367)4.68319049
47regulation of metalloenzyme activity (GO:0048552)4.67706659
48tyrosine metabolic process (GO:0006570)4.66855301
49skin morphogenesis (GO:0043589)4.64901765
50lysine catabolic process (GO:0006554)4.62803846
51lysine metabolic process (GO:0006553)4.62803846
52regulation of cholesterol esterification (GO:0010872)4.60495795
53amino-acid betaine metabolic process (GO:0006577)4.53173949
54acylglycerol homeostasis (GO:0055090)4.53063590
55triglyceride homeostasis (GO:0070328)4.53063590
56alpha-amino acid catabolic process (GO:1901606)4.51176998
57bile acid and bile salt transport (GO:0015721)4.50637704
58substrate-dependent cell migration (GO:0006929)4.50609717
59phospholipid efflux (GO:0033700)4.40778063
60cellular glucuronidation (GO:0052695)4.33596552
61negative regulation of sterol transport (GO:0032372)4.33337890
62negative regulation of cholesterol transport (GO:0032375)4.33337890
63plasma lipoprotein particle clearance (GO:0034381)4.32062605
64lung vasculature development (GO:0060426)4.30465475
65indolalkylamine metabolic process (GO:0006586)4.29634819
66glycine metabolic process (GO:0006544)4.29630642
67coenzyme catabolic process (GO:0009109)4.27430093
68cellular ketone body metabolic process (GO:0046950)4.26290690
69cellular biogenic amine catabolic process (GO:0042402)4.19803773
70amine catabolic process (GO:0009310)4.19803773
71positive regulation of osteoblast proliferation (GO:0033690)4.18142572
72cellular amino acid catabolic process (GO:0009063)4.15975059
73imidazole-containing compound metabolic process (GO:0052803)4.13595954
74glutamate metabolic process (GO:0006536)4.10808838
75serine family amino acid metabolic process (GO:0009069)4.10579871
76cholesterol efflux (GO:0033344)4.09194930
77negative regulation of protein activation cascade (GO:2000258)4.08616219
78peptidyl-proline hydroxylation (GO:0019511)4.07888638
79fibrinolysis (GO:0042730)4.07589401
80positive regulation of blood vessel endothelial cell migration (GO:0043536)4.07278947
81benzene-containing compound metabolic process (GO:0042537)4.07108356
82ethanol oxidation (GO:0006069)4.05293506
83cell migration involved in sprouting angiogenesis (GO:0002042)4.03568054
84cellular modified amino acid catabolic process (GO:0042219)4.00285906
85low-density lipoprotein particle remodeling (GO:0034374)3.98577021
86blood coagulation, intrinsic pathway (GO:0007597)3.97372184
87mesenchymal-epithelial cell signaling (GO:0060638)3.97040558
88COPI coating of Golgi vesicle (GO:0048205)3.95505048
89Golgi transport vesicle coating (GO:0048200)3.95505048
90endocrine hormone secretion (GO:0060986)3.94952793
91dicarboxylic acid biosynthetic process (GO:0043650)3.94773756
92serine family amino acid biosynthetic process (GO:0009070)3.93517484
93aldehyde catabolic process (GO:0046185)3.93234544
94arginine metabolic process (GO:0006525)3.90817820
95protein heterotrimerization (GO:0070208)3.87852008
96drug catabolic process (GO:0042737)3.87632632
97plasma lipoprotein particle assembly (GO:0034377)3.87207852
98phospholipid homeostasis (GO:0055091)3.86985526
99uronic acid metabolic process (GO:0006063)3.85563894
100glucuronate metabolic process (GO:0019585)3.85563894
101protein hydroxylation (GO:0018126)3.78908615
102positive regulation of triglyceride lipase activity (GO:0061365)3.78885985
103positive regulation of lipoprotein lipase activity (GO:0051006)3.78885985
104protein activation cascade (GO:0072376)3.77331446
105protein localization to endosome (GO:0036010)3.75891811
106regulation of transforming growth factor beta2 production (GO:0032909)3.73912189
107complement activation, classical pathway (GO:0006958)3.73289531
108complement activation (GO:0006956)3.70934009
109cholesterol homeostasis (GO:0042632)3.69867147
110cofactor catabolic process (GO:0051187)3.69746510
111opsonization (GO:0008228)3.69731206
112hemidesmosome assembly (GO:0031581)3.68925282
113cytolysis (GO:0019835)3.67922621
114positive regulation of p38MAPK cascade (GO:1900745)3.67919748
115ketone body metabolic process (GO:1902224)3.67829147
116acetyl-CoA metabolic process (GO:0006084)3.65837140
117carboxylic acid catabolic process (GO:0046395)3.65428340
118organic acid catabolic process (GO:0016054)3.65428340
119sterol homeostasis (GO:0055092)3.64624579
120hyaluronan catabolic process (GO:0030214)3.64519085
121positive regulation of lipid catabolic process (GO:0050996)3.62869873
122very-low-density lipoprotein particle assembly (GO:0034379)3.62655708
123positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)3.61336443
124endothelial cell morphogenesis (GO:0001886)3.60193171
125short-chain fatty acid metabolic process (GO:0046459)3.58658936
126regulation of bile acid biosynthetic process (GO:0070857)3.58095448
127regulation of integrin-mediated signaling pathway (GO:2001044)3.55817692
128maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.55789961
129plasma lipoprotein particle organization (GO:0071827)3.55701976
130regulation of cholesterol homeostasis (GO:2000188)3.55549195
131negative regulation of lipase activity (GO:0060192)3.54091135
132regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033139)3.52470305
133positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)3.52470305
134protein-lipid complex assembly (GO:0065005)3.52360988
135regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033393.51847219
136regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00433.51618522
137hemoglobin metabolic process (GO:0020027)3.51109956
138protein retention in ER lumen (GO:0006621)3.39793237
139positive regulation of macrophage activation (GO:0043032)3.38887214
140regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902547)3.36833095
141regulation of plasminogen activation (GO:0010755)3.34868038
142cellular response to vitamin D (GO:0071305)3.32622968
143cellular response to follicle-stimulating hormone stimulus (GO:0071372)3.31487105
144collagen metabolic process (GO:0032963)3.30992300
145wound healing, spreading of epidermal cells (GO:0035313)3.30895685
146regulation of transforming growth factor beta1 production (GO:0032908)3.30430912
147vascular endothelial growth factor signaling pathway (GO:0038084)3.30401060
148decidualization (GO:0046697)3.23614133
149lung lobe morphogenesis (GO:0060463)3.23151602
150sequestering of extracellular ligand from receptor (GO:0035581)3.20624604
151retina vasculature morphogenesis in camera-type eye (GO:0061299)3.14771377
152negative regulation of chondrocyte differentiation (GO:0032331)3.14123658
153regulation of membrane protein ectodomain proteolysis (GO:0051043)3.13834737
154positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)3.10012733
155trophoblast giant cell differentiation (GO:0060707)3.09720197
156response to gonadotropin (GO:0034698)3.09566179
157negative regulation of smooth muscle cell migration (GO:0014912)3.07401293
158collagen catabolic process (GO:0030574)3.06450392
159cell-substrate junction assembly (GO:0007044)3.04315195
160multicellular organismal macromolecule metabolic process (GO:0044259)3.03526048
161muscle cell migration (GO:0014812)3.03309532
162regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045714)3.01812554
163extracellular matrix disassembly (GO:0022617)3.00393002
164branching involved in salivary gland morphogenesis (GO:0060445)3.00225036
165basement membrane organization (GO:0071711)2.99784178
166apoptotic cell clearance (GO:0043277)2.99243916
167sprouting angiogenesis (GO:0002040)2.97445168
168cellular response to vitamin (GO:0071295)2.96903056
169vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.96091432
170dichotomous subdivision of an epithelial terminal unit (GO:0060600)2.95791652
171regulation of transmission of nerve impulse (GO:0051969)2.95183295
172blood vessel endothelial cell migration (GO:0043534)2.93415361
173UDP-N-acetylglucosamine metabolic process (GO:0006047)2.93172115
174female pregnancy (GO:0007565)2.93048018
175collagen fibril organization (GO:0030199)2.92300913
176multicellular organismal metabolic process (GO:0044236)2.89764197
177regulation of nephron tubule epithelial cell differentiation (GO:0072182)2.89600684
178regulation of branching involved in salivary gland morphogenesis (GO:0060693)2.86456881
179regulation of transforming growth factor beta production (GO:0071634)2.86221962
180type B pancreatic cell proliferation (GO:0044342)2.85441654
181hypotonic response (GO:0006971)2.84150938
182regulation of osteoblast proliferation (GO:0033688)2.81291552
183multicellular organismal catabolic process (GO:0044243)2.77922809
184positive regulation of endothelial cell migration (GO:0010595)2.76249767
185pericardium development (GO:0060039)2.75625999
186regulation of glucocorticoid metabolic process (GO:0031943)2.74567198
1874-hydroxyproline metabolic process (GO:0019471)2.73547856
188wound healing, spreading of cells (GO:0044319)2.72941686
189mammary gland epithelial cell proliferation (GO:0033598)2.70040678
190heparan sulfate proteoglycan biosynthetic process (GO:0015012)2.63174275
191negative regulation of focal adhesion assembly (GO:0051895)2.62262593
192negative regulation of cell junction assembly (GO:1901889)2.62262593
193negative regulation of adherens junction organization (GO:1903392)2.62262593
194positive regulation of epithelial cell migration (GO:0010634)2.62254162
195negative regulation of cell-matrix adhesion (GO:0001953)2.61726601
196regulation of extracellular matrix disassembly (GO:0010715)2.60139958
197glucocorticoid biosynthetic process (GO:0006704)2.59496324
198negative regulation of homotypic cell-cell adhesion (GO:0034111)2.58732938
199regulation of vascular endothelial growth factor production (GO:0010574)2.57146007
200replacement ossification (GO:0036075)2.55073456

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1RXR_22158963_ChIP-Seq_LIVER_Mouse8.20800297
2PPARA_22158963_ChIP-Seq_LIVER_Mouse7.05862316
3EGR1_23403033_ChIP-Seq_LIVER_Mouse6.80211248
4LXR_22158963_ChIP-Seq_LIVER_Mouse6.39727317
5FOXO1_23066095_ChIP-Seq_LIVER_Mouse5.05892464
6CEBPA_23403033_ChIP-Seq_LIVER_Mouse4.85983133
7PPARG_19300518_ChIP-PET_3T3-L1_Mouse4.76059605
8NR1I2_20693526_ChIP-Seq_LIVER_Mouse3.97447544
9CEBPB_23403033_ChIP-Seq_LIVER_Mouse3.79405279
10SMAD4_19686287_ChIP-ChIP_HaCaT_Human3.40327934
11NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.29890795
12SMAD_19615063_ChIP-ChIP_OVARY_Human3.17054294
13HIF1A_21447827_ChIP-Seq_MCF-7_Human2.98233790
14CJUN_26792858_Chip-Seq_BT549_Human2.71092963
15BRD4_25478319_ChIP-Seq_HGPS_Human2.66346113
16* SMAD2_18955504_ChIP-ChIP_HaCaT_Human2.51256101
17* SMAD3_18955504_ChIP-ChIP_HaCaT_Human2.51256101
18RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.44135082
19WT1_19549856_ChIP-ChIP_CCG9911_Human2.43589846
20JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.30458411
21CEBPD_21427703_ChIP-Seq_3T3-L1_Mouse2.26616607
22TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat2.24732462
23* ATF3_23680149_ChIP-Seq_GBM1-GSC_Human2.07900100
24TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse2.07352356
25UBF1/2_26484160_Chip-Seq_HMECs_Human2.05431958
26JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human2.00903994
27MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human2.00698039
28HNF4A_19761587_ChIP-ChIP_CACO-2_Human2.00289578
29ESR1_17901129_ChIP-ChIP_LIVER_Mouse11.6911406
30TCF7L2_21901280_ChIP-Seq_H4IIE_Rat1.99473881
31KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.97466368
32ELK3_25401928_ChIP-Seq_HUVEC_Human1.95548781
33CLOCK_20551151_ChIP-Seq_293T_Human1.92447607
34SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.91105373
35TP53_18474530_ChIP-ChIP_U2OS_Human1.82467254
36EGR1_19374776_ChIP-ChIP_THP-1_Human1.70053392
37P300_27058665_Chip-Seq_ZR-75-30cells_Human1.60504830
38ZNF217_24962896_ChIP-Seq_MCF-7_Human1.60159530
39FOXA2_19822575_ChIP-Seq_HepG2_Human1.60105094
40WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.56975377
41TP53_22127205_ChIP-Seq_IMR90_Human1.54623491
42HTT_18923047_ChIP-ChIP_STHdh_Human1.52843657
43FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.50579855
44ATF3_27146783_Chip-Seq_COLON_Human1.47574682
45TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.45458025
46EP300_21415370_ChIP-Seq_HL-1_Mouse1.45250665
47KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.45134061
48FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.39050774
49HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.38702241
50HNF4A_19822575_ChIP-Seq_HepG2_Human1.38239884
51GATA1_22025678_ChIP-Seq_K562_Human1.36609725
52TP53_16413492_ChIP-PET_HCT116_Human1.34944527
53STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.32758241
54POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.31544835
55SMC1_22415368_ChIP-Seq_MEFs_Mouse1.30750364
56THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.29632973
57RARG_19884340_ChIP-ChIP_MEFs_Mouse1.28851636
58NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.27647345
59TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.25609013
60SOX9_24532713_ChIP-Seq_HFSC_Mouse1.25029052
61EOMES_20176728_ChIP-ChIP_TSCs_Mouse1.24703265
62P63_26484246_Chip-Seq_KERATINOCYTES_Human1.22464855
63SALL4_18804426_ChIP-ChIP_MESCs_Mouse1.22437583
64CDX2_19796622_ChIP-Seq_MESCs_Mouse1.20964105
65STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.19697698
66AR_21909140_ChIP-Seq_LNCAP_Human1.18540198
67SA1_22415368_ChIP-Seq_MEFs_Mouse1.13050809
68NANOG_18700969_ChIP-ChIP_MESCs_Mouse1.12457678
69ESR1_15608294_ChIP-ChIP_MCF-7_Human1.12310105
70UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.11647813
71ZIC3_20872845_ChIP-ChIP_MESCs_Mouse1.11164034
72ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.10448790
73RXRA_24833708_ChIP-Seq_LIVER_Mouse1.10196006
74EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.08870118
75PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.08027581
76TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.06547918
77ETS2_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.06484587
78IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.06396681
79* TP63_23658742_ChIP-Seq_EP156T_Human1.05865083
80TBX20_22080862_ChIP-Seq_HEART_Mouse1.04163741
81TBX20_22328084_ChIP-Seq_HEART_Mouse1.04163741
82TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.03593352
83NFIB_24661679_ChIP-Seq_LUNG_Mouse1.02884458
84AHR_22903824_ChIP-Seq_MCF-7_Human1.02797250
85SALL4_18804426_ChIP-ChIP_XEN_Mouse0.98539393
86SOX2_27498859_Chip-Seq_STOMACH_Mouse0.98216849
87NFE2L2_22581777_ChIP-Seq_LYMPHOBLASTOID_Human0.98208914
88DACH1_20351289_ChIP-Seq_MDA-MB-231_Human0.98172627
89CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.95789319
90IRF8_22096565_ChIP-ChIP_GC-B_Human0.92297175
91SMC3_22415368_ChIP-Seq_MEFs_Mouse0.92212436
92GATA4_25053715_ChIP-Seq_YYC3_Human0.91411893
93ESR2_21235772_ChIP-Seq_MCF-7_Human0.90716434
94MYB_21317192_ChIP-Seq_ERMYB_Mouse0.90195702
95CEBPD_23245923_ChIP-Seq_MEFs_Mouse0.88868177
96TP53_23651856_ChIP-Seq_MEFs_Mouse0.88768083
97TRIM28_17542650_ChIP-ChIP_NTERA2_Human0.88150434
98Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.87053503
99STAT6_21828071_ChIP-Seq_BEAS2B_Human0.86803692
100MEF2A_21415370_ChIP-Seq_HL-1_Mouse0.86225895
101NRF2_20460467_ChIP-Seq_MEFs_Mouse0.86142282
102NFE2L2_20460467_ChIP-Seq_MEFs_Mouse0.86142282
103* BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human0.85416259
104SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.84664414
105ARNT_22903824_ChIP-Seq_MCF-7_Human0.84292001
106ELK1_22589737_ChIP-Seq_MCF10A_Human0.83907613
107* RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human0.82921856
108SOX17_20123909_ChIP-Seq_XEN_Mouse0.82670313
109ZNF263_19887448_ChIP-Seq_K562_Human0.82149739
110AUTS2_25519132_ChIP-Seq_293T-REX_Human0.82004299
111PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse0.81770623
112TRIM28_21343339_ChIP-Seq_HEK293_Human0.80261236
113KAP1_22055183_ChIP-Seq_ESCs_Mouse0.79373803
114ESR1_21235772_ChIP-Seq_MCF-7_Human0.79014064
115ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.78068637
116SREBP1_19666523_ChIP-Seq_LIVER_Mouse0.72981986
117NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.72705613
118RARA_24833708_ChIP-Seq_LIVER_Mouse0.70916659
119AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.70048364
120ESRRB_18555785_ChIP-Seq_MESCs_Mouse0.65963215
121PPAR_26484153_Chip-Seq_NCI-H1993_Human0.65798159
122SREBP2_21459322_ChIP-Seq_LIVER_Mouse0.65608075
123FOXO3_23340844_ChIP-Seq_DLD1_Human0.64575479
124EGR1_19032775_ChIP-ChIP_M12_Human0.64070232
125CDX2_20551321_ChIP-Seq_CACO-2_Human0.63427546
126RARB_24833708_ChIP-Seq_LIVER_Mouse0.61799861
127STAT3_1855785_ChIP-Seq_MESCs_Mouse0.60626368
128RAD21_21589869_ChIP-Seq_MESCs_Mouse0.60087471
129NR0B1_18358816_ChIP-ChIP_MESCs_Mouse0.59989670
130ESR1_22446102_ChIP-Seq_UTERUS_Mouse0.58905042
131SOX2_20726797_ChIP-Seq_SW620_Human0.57084926
132CEBPB_22108803_ChIP-Seq_LS180_Human0.56452310
133FOXA1_25552417_ChIP-Seq_VCAP_Human0.54878995
134FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.54788578
135PPARG_20887899_ChIP-Seq_3T3-L1_Mouse0.54268574
136TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.54011152
137FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.53510393
138BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.52537963
139LXR_22292898_ChIP-Seq_THP-1_Human0.51755374
140ESET_19884257_ChIP-Seq_ESCs_Mouse0.50863006
141* MYC_19915707_ChIP-ChIP_AK7_Human0.50793584
142GATA2_21666600_ChIP-Seq_HMVEC_Human0.50103947
143AR_20517297_ChIP-Seq_VCAP_Human0.49586817
144BCAT_22108803_ChIP-Seq_LS180_Human0.49046670
145PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.48531633
146GATA6_25053715_ChIP-Seq_YYC3_Human0.48083305
147PPARD_23208498_ChIP-Seq_MDA-MB-231_Human0.47928227
148CBP_21632823_ChIP-Seq_H3396_Human0.47482559
149GATA1_19941826_ChIP-Seq_K562_Human0.46334567
150FOXA1_26743006_Chip-Seq_LNCaP-abl_Human0.45255175
151GATA3_24758297_ChIP-Seq_MCF-7_Human0.44055630
152* STAT1_17558387_ChIP-Seq_HELA_Human0.43112508
153P53_21459846_ChIP-Seq_SAOS-2_Human0.42977212
154GATA2_19941826_ChIP-Seq_K562_Human0.42601120
155FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse0.41918438
156PBX1_22567123_ChIP-ChIP_OVCAR3_Human0.40685123
157SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.38523168
158* ESR1_20079471_ChIP-ChIP_T-47D_Human0.38280600
159CDX2_22108803_ChIP-Seq_LS180_Human0.38053713
160GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.37233905
161ERG_21242973_ChIP-ChIP_JURKAT_Human0.36501694
162GATA1_19941827_ChIP-Seq_MEL_Mouse0.36399058
163FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human0.36278301
164TAF2_19829295_ChIP-Seq_ESCs_Human0.35879667
165CSB_26484114_Chip-Seq_FIBROBLAST_Human0.35782286
166RACK7_27058665_Chip-Seq_MCF-7_Human0.34852610
167TP63_17297297_ChIP-ChIP_HaCaT_Human0.34762730
168STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.34447138
169MYC_27129775_Chip-Seq_CORNEA_Mouse0.34399055

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0002139_abnormal_hepatobiliary_system8.14259960
2MP0005360_urolithiasis7.44065710
3MP0005085_abnormal_gallbladder_physiolo6.33989806
4MP0005365_abnormal_bile_salt6.08568786
5MP0008875_abnormal_xenobiotic_pharmacok4.90401799
6MP0003806_abnormal_nucleotide_metabolis4.17576913
7MP0004272_abnormal_basement_membrane4.05307216
8MP0003252_abnormal_bile_duct4.02071815
9MP0010352_gastrointestinal_tract_polyps3.77373535
10MP0010329_abnormal_lipoprotein_level3.51122603
11MP0003279_aneurysm3.26063876
12MP0005257_abnormal_intraocular_pressure3.08974105
13MP0009840_abnormal_foam_cell3.07000472
14MP0005083_abnormal_biliary_tract2.91765110
15MP0003566_abnormal_cell_adhesion2.89664434
16MP0003950_abnormal_plasma_membrane2.74496233
17MP0005623_abnormal_meninges_morphology2.72735624
18MP0005332_abnormal_amino_acid2.71842874
19MP0003195_calcinosis2.65256607
20MP0001666_abnormal_nutrient_absorption2.55562771
21MP0005275_abnormal_skin_tensile2.42240070
22MP0003191_abnormal_cellular_cholesterol2.25726135
23MP0003091_abnormal_cell_migration2.22139061
24MP0002877_abnormal_melanocyte_morpholog2.21292150
25MP0004019_abnormal_vitamin_homeostasis2.17475203
26MP0000609_abnormal_liver_physiology2.14099760
27MP0002138_abnormal_hepatobiliary_system2.05396276
28MP0002118_abnormal_lipid_homeostasis2.03655880
29MP0000013_abnormal_adipose_tissue2.02898858
30MP0008004_abnormal_stomach_pH2.01651360
31MP0003868_abnormal_feces_composition1.93382416
32MP0005319_abnormal_enzyme/_coenzyme1.83011342
33MP0001958_emphysema1.82501810
34MP0001879_abnormal_lymphatic_vessel1.75342245
35MP0003300_gastrointestinal_ulcer1.74380127
36MP0009697_abnormal_copulation1.68106968
37MP0009780_abnormal_chondrocyte_physiolo1.60702325
38MP0008775_abnormal_heart_ventricle1.57236741
39MP0001299_abnormal_eye_distance/1.55874945
40MP0001764_abnormal_homeostasis1.54260102
41MP0005584_abnormal_enzyme/coenzyme_acti1.52574187
42MP0005503_abnormal_tendon_morphology1.50206661
43MP0000767_abnormal_smooth_muscle1.46518488
44MP0003705_abnormal_hypodermis_morpholog1.44102802
45MP0004858_abnormal_nervous_system1.42533771
46MP0004084_abnormal_cardiac_muscle1.40574839
47MP0000733_abnormal_muscle_development1.39166464
48MP0002332_abnormal_exercise_endurance1.38536148
49MP0003011_delayed_dark_adaptation1.37482557
50MP0002896_abnormal_bone_mineralization1.36471930
51MP0005508_abnormal_skeleton_morphology1.35830082
52MP0005451_abnormal_body_composition1.31603587
53MP0000003_abnormal_adipose_tissue1.29991273
54MP0010368_abnormal_lymphatic_system1.29672985
55MP0000343_altered_response_to1.29632511
56MP0009643_abnormal_urine_homeostasis1.28289151
57MP0003941_abnormal_skin_development1.27980290
58MP0003186_abnormal_redox_activity1.27529204
59MP0002998_abnormal_bone_remodeling1.26555711
60MP0003453_abnormal_keratinocyte_physiol1.25804758
61MP0002254_reproductive_system_inflammat1.24765536
62MP0001915_intracranial_hemorrhage1.23777325
63MP0003045_fibrosis1.22793105
64MP0000750_abnormal_muscle_regeneration1.21415021
65MP0005165_increased_susceptibility_to1.20444493
66MP0000598_abnormal_liver_morphology1.19206114
67MP0001542_abnormal_bone_strength1.16410883
68MP0005187_abnormal_penis_morphology1.15024655
69MP0003656_abnormal_erythrocyte_physiolo1.14554499
70MP0003385_abnormal_body_wall1.12350064
71MP0005197_abnormal_uvea_morphology1.11017203
72MP0000762_abnormal_tongue_morphology1.10067944
73MP0005171_absent_coat_pigmentation1.09520150
74MP0009764_decreased_sensitivity_to1.08125818
75MP0000627_abnormal_mammary_gland1.06851627
76MP0000604_amyloidosis1.05283481
77MP0005647_abnormal_sex_gland1.01847479
78MP0009250_abnormal_appendicular_skeleto1.00852547
79MP0009763_increased_sensitivity_to0.99518242
80MP0005409_darkened_coat_color0.97396882
81MP0004233_abnormal_muscle_weight0.95482511
82MP0003828_pulmonary_edema0.94960792
83MP0003936_abnormal_reproductive_system0.94672712
84MP0005636_abnormal_mineral_homeostasis0.93939562
85MP0000534_abnormal_ureter_morphology0.93516391
86MP0003448_altered_tumor_morphology0.93014702
87MP0002933_joint_inflammation0.92595271
88MP0001849_ear_inflammation0.92387441
89MP0005670_abnormal_white_adipose0.91825885
90MP0001614_abnormal_blood_vessel0.91679949
91MP0008469_abnormal_protein_level0.89130138
92MP0005408_hypopigmentation0.89042322
93MP0010234_abnormal_vibrissa_follicle0.88707779
94MP0002128_abnormal_blood_circulation0.87813147
95MP0000751_myopathy0.86459544
96MP0004510_myositis0.86006119
97MP0003724_increased_susceptibility_to0.85142190
98MP0000858_altered_metastatic_potential0.85122876
99MP0006138_congestive_heart_failure0.84723872
100MP0009642_abnormal_blood_homeostasis0.84663685
101MP0005376_homeostasis/metabolism_phenot0.84340273
102MP0010030_abnormal_orbit_morphology0.81216097
103MP0002925_abnormal_cardiovascular_devel0.80569219
104MP0005084_abnormal_gallbladder_morpholo0.79717596
105MP0001661_extended_life_span0.79256253
106MP0005375_adipose_tissue_phenotype0.78325856
107MP0005220_abnormal_exocrine_pancreas0.75301517
108MP0004808_abnormal_hematopoietic_stem0.75100476
109MP0002113_abnormal_skeleton_development0.74177833
110MP0000759_abnormal_skeletal_muscle0.73733598
111MP0005390_skeleton_phenotype0.73337306
112MP0006036_abnormal_mitochondrial_physio0.73331825
113MP0000428_abnormal_craniofacial_morphol0.72603417
114MP0001727_abnormal_embryo_implantation0.72312288
115MP0002078_abnormal_glucose_homeostasis0.71445058
116MP0002972_abnormal_cardiac_muscle0.71294171
117MP0009765_abnormal_xenobiotic_induced0.71149962
118MP0002089_abnormal_postnatal_growth/wei0.70990467
119MP0001216_abnormal_epidermal_layer0.70956818
120MP0000537_abnormal_urethra_morphology0.70380278
121MP0002971_abnormal_brown_adipose0.70122273
122MP0000163_abnormal_cartilage_morphology0.69420293
123MP0003942_abnormal_urinary_system0.69056462
124MP0008260_abnormal_autophagy0.68960926
125MP0003755_abnormal_palate_morphology0.68447592
126MP0009053_abnormal_anal_canal0.68175180
127MP0001756_abnormal_urination0.67947189
128MP0005334_abnormal_fat_pad0.66889854
129MP0010771_integument_phenotype0.66503387
130MP0000432_abnormal_head_morphology0.66348634
131MP0004130_abnormal_muscle_cell0.66022443
132MP0000639_abnormal_adrenal_gland0.62621316
133MP0008438_abnormal_cutaneous_collagen0.62532674
134MP0002876_abnormal_thyroid_physiology0.62487972
135MP0005266_abnormal_metabolism0.61291781
136MP0003690_abnormal_glial_cell0.59319706
137MP0005535_abnormal_body_temperature0.58907510
138MP0005164_abnormal_response_to0.53962631
139MP0002136_abnormal_kidney_physiology0.51836470
140MP0005464_abnormal_platelet_physiology0.51073425
141MP0004883_abnormal_blood_vessel0.49959887
142MP0003638_abnormal_response/metabolism_0.49934541
143MP0009384_cardiac_valve_regurgitation0.49735278
144MP0005448_abnormal_energy_balance0.49155716
145MP0005248_abnormal_Harderian_gland0.49041264
146MP0003329_amyloid_beta_deposits0.48520501
147MP0000249_abnormal_blood_vessel0.46507574
148MP0005395_other_phenotype0.45687964
149MP0008873_increased_physiological_sensi0.45399885
150MP0006035_abnormal_mitochondrial_morpho0.44899779
151MP0005166_decreased_susceptibility_to0.44648865
152MP0002796_impaired_skin_barrier0.43111615
153MP0002060_abnormal_skin_morphology0.42569444
154MP0003436_decreased_susceptibility_to0.41656869
155MP0001243_abnormal_dermal_layer0.41591307
156MP0005666_abnormal_adipose_tissue0.41559834
157MP0002928_abnormal_bile_duct0.41288900
158MP0003075_altered_response_to0.41072438
159MP0000230_abnormal_systemic_arterial0.40003839
160MP0006054_spinal_hemorrhage0.39558187
161MP0002837_dystrophic_cardiac_calcinosis0.39333774
162MP0005023_abnormal_wound_healing0.38767054
163MP0008874_decreased_physiological_sensi0.38686944
164MP0001881_abnormal_mammary_gland0.37966859
165MP0003953_abnormal_hormone_level0.36308912
166MP0004264_abnormal_extraembryonic_tissu0.36030865
167MP0006082_CNS_inflammation0.35786294
168MP0005595_abnormal_vascular_smooth0.35211195
169MP0002295_abnormal_pulmonary_circulatio0.35104809
170MP0002168_other_aberrant_phenotype0.34955273
171MP0003718_maternal_effect0.34407996
172MP0004782_abnormal_surfactant_physiolog0.34010954
173MP0005058_abnormal_lysosome_morphology0.32752135
174MP0009672_abnormal_birth_weight0.32697586
175MP0004381_abnormal_hair_follicle0.31988367
176MP0005167_abnormal_blood-brain_barrier0.31721479
177MP0009115_abnormal_fat_cell0.31548830

Predicted human phenotypes

RankGene SetZ-score
1Deep venous thrombosis (HP:0002625)7.42175003
2Intrahepatic cholestasis (HP:0001406)7.39201751
3Protrusio acetabuli (HP:0003179)7.27703393
4Abnormality of aromatic amino acid family metabolism (HP:0004338)7.15592943
5Abnormality of monocarboxylic acid metabolism (HP:0010996)6.57525893
6Prolonged partial thromboplastin time (HP:0003645)6.38041612
7Premature rupture of membranes (HP:0001788)6.33508952
8Hypobetalipoproteinemia (HP:0003563)6.28183254
9Xanthomatosis (HP:0000991)6.24025367
10Complement deficiency (HP:0004431)5.38048413
11Hyperlipoproteinemia (HP:0010980)5.33769116
12Vertebral compression fractures (HP:0002953)5.26570974
13Ankle contracture (HP:0006466)5.11643042
14Follicular hyperkeratosis (HP:0007502)5.04780454
15Hypolipoproteinemia (HP:0010981)4.78894507
16Joint hemorrhage (HP:0005261)4.71205322
17Hyperammonemia (HP:0001987)4.49967531
18Abnormality of the common coagulation pathway (HP:0010990)4.49560797
19Epidermoid cyst (HP:0200040)4.46894718
20Abnormality of the level of lipoprotein cholesterol (HP:0010979)4.37736709
21Abnormality of glutamine family amino acid metabolism (HP:0010902)4.27702770
22Hyperglycinemia (HP:0002154)4.25246371
23Hypoalphalipoproteinemia (HP:0003233)4.23825727
24Fat malabsorption (HP:0002630)4.16434090
25Abnormality of sulfur amino acid metabolism (HP:0004339)4.12713499
26Arterial tortuosity (HP:0005116)4.06761955
27Abnormality of methionine metabolism (HP:0010901)4.06328315
28Aortic dissection (HP:0002647)4.06073202
29Ketosis (HP:0001946)4.03775050
30Abnormality of aspartate family amino acid metabolism (HP:0010899)4.02951485
31Abnormality of complement system (HP:0005339)3.97051752
32Vascular tortuosity (HP:0004948)3.95681342
33Type 1 muscle fiber predominance (HP:0003803)3.94196958
34Abnormality of the intrinsic pathway (HP:0010989)3.86810424
35Spinal rigidity (HP:0003306)3.85881266
36Hypoglycemic coma (HP:0001325)3.82353574
37Hyperglycinuria (HP:0003108)3.78374340
38Abnormality of serine family amino acid metabolism (HP:0010894)3.76080151
39Abnormality of glycine metabolism (HP:0010895)3.76080151
40Conjugated hyperbilirubinemia (HP:0002908)3.71678875
41Slender build (HP:0001533)3.71424747
42Wormian bones (HP:0002645)3.70188514
43Atrophic scars (HP:0001075)3.62966147
44Abnormality of pyrimidine metabolism (HP:0004353)3.61279689
45Cervical subluxation (HP:0003308)3.52570177
46Hypercholesterolemia (HP:0003124)3.49101251
47Tetraparesis (HP:0002273)3.40138285
48Aortic aneurysm (HP:0004942)3.39704243
49Abnormality of fatty-acid metabolism (HP:0004359)3.33075830
50Abnormality of long-chain fatty-acid metabolism (HP:0010964)3.31409645
51Hyperbilirubinemia (HP:0002904)3.29616611
52Elbow flexion contracture (HP:0002987)3.27853553
53Ankyloglossia (HP:0010296)3.18094448
54Spondylolisthesis (HP:0003302)3.16304909
55Abnormality of dentin (HP:0010299)3.14310536
56Bladder diverticulum (HP:0000015)3.13830560
57Steatorrhea (HP:0002570)3.09897215
58Mildly elevated creatine phosphokinase (HP:0008180)3.09357960
59Fragile skin (HP:0001030)3.08666586
60Myocardial infarction (HP:0001658)3.07002232
61Abnormality of nucleobase metabolism (HP:0010932)3.03723052
62Hepatocellular carcinoma (HP:0001402)3.03465822
63Spontaneous abortion (HP:0005268)3.00595796
64Delayed CNS myelination (HP:0002188)2.98262960
65Achilles tendon contracture (HP:0001771)2.97868353
66Soft skin (HP:0000977)2.96243824
67Increased variability in muscle fiber diameter (HP:0003557)2.95852566
68Abnormality of serum amino acid levels (HP:0003112)2.95419597
69Broad metatarsal (HP:0001783)2.94818104
70Ketoacidosis (HP:0001993)2.90985313
71Systemic lupus erythematosus (HP:0002725)2.87026441
72Skin nodule (HP:0200036)2.86090222
73Osteolytic defects of the phalanges of the hand (HP:0009771)2.85175094
74Osteolytic defects of the hand bones (HP:0009699)2.85175094
75Blue sclerae (HP:0000592)2.83647693
76Abnormality of oral frenula (HP:0000190)2.81830899
77Hypoventilation (HP:0002791)2.81399661
78Shallow orbits (HP:0000586)2.77659881
79Abnormality of purine metabolism (HP:0004352)2.74944734
80Short nail (HP:0001799)2.74818882
81Hypochromic microcytic anemia (HP:0004840)2.73595414
82Genu recurvatum (HP:0002816)2.70358666
83Vascular calcification (HP:0004934)2.67395162
84Metabolic acidosis (HP:0001942)2.64545182
85Abnormality of the Achilles tendon (HP:0005109)2.63349896
86Abnormality of skeletal muscle fiber size (HP:0012084)2.62195004
87Spinal cord lesions (HP:0100561)2.60908087
88Syringomyelia (HP:0003396)2.60908087
89Overgrowth (HP:0001548)2.58677895
90Spastic diplegia (HP:0001264)2.55606603
91Biconcave vertebral bodies (HP:0004586)2.53993464
92Dicarboxylic aciduria (HP:0003215)2.52968227
93Abnormality of dicarboxylic acid metabolism (HP:0010995)2.52968227
94Acanthocytosis (HP:0001927)2.51971066
95Lethargy (HP:0001254)2.50188030
96Abnormality of the acetabulum (HP:0003170)2.49578430
97Cardiovascular calcification (HP:0011915)2.45638780
98Mitral stenosis (HP:0001718)2.43930745
99Esophageal varix (HP:0002040)2.43494134
100Gout (HP:0001997)2.42448026
101Abnormal gallbladder morphology (HP:0012437)2.41642332
102Joint laxity (HP:0001388)2.40880724
103Malnutrition (HP:0004395)2.40002611
104Neonatal short-limb short stature (HP:0008921)2.39361913
105Hypoglycemic seizures (HP:0002173)2.38969998
106Ulnar bowing (HP:0003031)2.37044585
107Glomerulonephritis (HP:0000099)2.36436780
108Cholelithiasis (HP:0001081)2.34572715
109Coxa vara (HP:0002812)2.32690560
110Cholecystitis (HP:0001082)2.32149865
111Abnormal gallbladder physiology (HP:0012438)2.32149865
112Mitral valve prolapse (HP:0001634)2.29676286
113Neonatal onset (HP:0003623)2.28925833
114Irritability (HP:0000737)2.27960054
115Recurrent gram-negative bacterial infections (HP:0005420)2.26126096
116Generalized amyotrophy (HP:0003700)2.25828058
117Menorrhagia (HP:0000132)2.25480815
118Gingival bleeding (HP:0000225)2.25291967
119Disproportionate tall stature (HP:0001519)2.23433883
120Amyloidosis (HP:0011034)2.23120241
121Cerebral edema (HP:0002181)2.22007110
122Limb-girdle muscle weakness (HP:0003325)2.21267430
123Protruding ear (HP:0000411)2.20474408
124Increased connective tissue (HP:0009025)2.19867249
125Sensorimotor neuropathy (HP:0007141)2.16869954
126Cerebral aneurysm (HP:0004944)2.15575270
127Thoracolumbar scoliosis (HP:0002944)2.15098175
128Dilatation of the ascending aorta (HP:0005111)2.13521089
129Mitral regurgitation (HP:0001653)2.12648753
130Pancreatitis (HP:0001733)2.11270485
131Thrombophlebitis (HP:0004418)2.11219309
132Wrist flexion contracture (HP:0001239)2.10918172
133Pterygium (HP:0001059)2.10409044
134Hyperextensible skin (HP:0000974)2.10239657
135Hydroxyprolinuria (HP:0003080)2.09216811
136Abnormality of proline metabolism (HP:0010907)2.09216811
137Abnormal cartilage morphology (HP:0002763)2.07514986
138Generalized aminoaciduria (HP:0002909)2.05262066
139Enlarged kidneys (HP:0000105)2.03460287
140Brushfield spots (HP:0001088)2.03177486
141Vomiting (HP:0002013)2.00348873
142Hemorrhage of the eye (HP:0011885)1.99724170
143Rickets (HP:0002748)1.99533931
144Abnormality of the gallbladder (HP:0005264)1.97539853
145Femoral bowing (HP:0002980)1.96561838
146Late onset (HP:0003584)1.95612451
147Abnormality of iron homeostasis (HP:0011031)1.95406276
148Coronal craniosynostosis (HP:0004440)1.94833452
149Knee flexion contracture (HP:0006380)1.94824699
150Upper limb amyotrophy (HP:0009129)1.93470089
151Distal upper limb amyotrophy (HP:0007149)1.93470089
152Abnormality of transition element cation homeostasis (HP:0011030)1.92991394
153Opisthotonus (HP:0002179)1.92512034
154Hyperinsulinemic hypoglycemia (HP:0000825)1.91353978
155Cupped ribs (HP:0000887)1.90931530
156Aortic regurgitation (HP:0001659)1.88450641
157Absent frontal sinuses (HP:0002688)1.87757569
158Abnormal enzyme/coenzyme activity (HP:0012379)1.87636930
159Pectus carinatum (HP:0000768)1.86182757
160Abnormality of the distal phalanges of the toes (HP:0010182)1.86048864
161Poikilocytosis (HP:0004447)1.86002156
162Subacute progressive viral hepatitis (HP:0006572)1.84247141
163Decreased number of large peripheral myelinated nerve fibers (HP:0003387)1.82163685
164Nonimmune hydrops fetalis (HP:0001790)1.81932284
165Abnormality of glycolipid metabolism (HP:0010969)1.81054196
166Abnormality of liposaccharide metabolism (HP:0010968)1.81054196
167Abnormality of glycosphingolipid metabolism (HP:0004343)1.81054196
168Aneurysm (HP:0002617)1.80668609
169Arnold-Chiari malformation (HP:0002308)1.80080844
170Increased purine levels (HP:0004368)1.79609273
171Hyperuricemia (HP:0002149)1.79609273
172Natal tooth (HP:0000695)1.79319568
173Alkalosis (HP:0001948)1.79011957
174Flared iliac wings (HP:0002869)1.78264993
175Aortic valve stenosis (HP:0001650)1.78138013
176Hypophosphatemic rickets (HP:0004912)1.77333937
177Inguinal hernia (HP:0000023)1.76713669
178Nephritis (HP:0000123)1.75476118
179Renal cortical cysts (HP:0000803)1.75333315
180Osteopenia (HP:0000938)1.75239135
181Elevated hepatic transaminases (HP:0002910)1.74380781
182Distal lower limb amyotrophy (HP:0008944)1.74138295
183Hyperglycemia (HP:0003074)1.73313890
184Hypoplasia of the iris (HP:0007676)1.70837652
185Distal lower limb muscle weakness (HP:0009053)1.69457067
186Abnormal delivery (HP:0001787)1.68702121
187Hydroureter (HP:0000072)1.68561051
188Back pain (HP:0003418)1.68149492
189Bowel diverticulosis (HP:0005222)1.67422691
190Upper limb muscle weakness (HP:0003484)1.67201498
191Lower limb amyotrophy (HP:0007210)1.67027002
192Neurofibrillary tangles (HP:0002185)1.66028957
193Congenital glaucoma (HP:0001087)1.65965155
194Genu valgum (HP:0002857)1.65786363
195Delayed cranial suture closure (HP:0000270)1.63533134

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.29760117
2ERN14.58105744
3FGFR44.30364872
4SIK13.96877108
5TAOK32.96057271
6NTRK12.76490479
7ERBB42.74199048
8PKN22.68592792
9INSRR2.60269966
10KDR2.17661887
11PAK42.13453192
12LATS12.10087984
13TRIB32.08043983
14TIE12.02095137
15MOS2.00596407
16PIK3CG2.00494711
17MST1R1.99602293
18FLT31.99313573
19MAP2K41.87496674
20ARAF1.85088059
21DDR21.84768240
22PTK61.82644439
23PDGFRB1.72586615
24MAPK111.70891157
25MAP3K91.70235181
26TTN1.68107082
27NEK91.66663554
28FRK1.62142942
29TYK21.59957230
30TGFBR21.51299708
31ABL21.49509881
32LMTK21.46343984
33LIMK11.33682837
34CDK81.32766391
35TESK11.31522435
36DAPK21.29563511
37NME21.24818995
38MAP3K31.24668252
39PAK21.23706735
40STK381.20139292
41TBK11.19307845
42SCYL21.18515451
43FGFR21.16515827
44EPHB11.12811000
45PRPF4B1.12724771
46JAK21.12547342
47MAP2K31.08513783
48ERBB21.08133854
49MAP3K71.08037938
50MET1.08009209
51STK38L1.06711751
52JAK11.01562850
53MAP3K141.00174934
54TRPM71.00057930
55PRKAA20.99206850
56RIPK10.96855051
57MAP3K100.95405918
58BRAF0.94315013
59PIM20.90472566
60MAPK40.88778944
61MAP3K120.86462654
62CDK60.85769759
63MAP3K130.84257612
64PTK20.84194262
65CSK0.82544220
66MAP3K110.81606423
67MAPK120.81241082
68MAPK150.79173854
69EPHA30.78914995
70GSK3A0.78100633
71DYRK30.77657506
72ERBB30.77584401
73PINK10.77210594
74ROCK20.75745646
75LATS20.74740545
76PRKG20.74459119
77PRKCZ0.74055488
78GRK60.69982909
79PRKD20.69182192
80KSR10.69055794
81SMG10.68461585
82MELK0.68068215
83BMPR20.66603926
84ILK0.66034967
85PRKACG0.64419513
86ROCK10.64075264
87PDGFRA0.64038966
88MAP2K10.63093000
89CAMK2G0.62732864
90FER0.61347502
91STK240.60647186
92DYRK1B0.60288333
93IRAK30.59566855
94MAP3K80.59204382
95RET0.56021438
96AKT20.55986919
97PDPK10.55857104
98FGFR30.55518579
99DAPK30.55321768
100ZAP700.53865961
101ICK0.53034989
102KSR20.52736435
103MAPK70.52451188
104IGF1R0.52086564
105PRKAA10.51128581
106CLK10.50559570
107INSR0.49163436
108IKBKE0.47791441
109EPHB20.45317399
110STK100.45276378
111CAMK1D0.45153703
112SGK30.44756472
113GRK10.44260402
114CSNK1G10.43976598
115MAP2K60.43040440
116MYLK0.42490456
117EGFR0.41501457
118RPS6KA20.41371420
119STK30.40584404
120CDK120.40575543
121PRKCQ0.40384471
122CDC42BPA0.40289984
123TEC0.40070550
124TAOK20.39826930
125PLK20.39715349
126BMX0.39073291
127MTOR0.38738430
128MAP3K60.36881930
129CSF1R0.36837215
130PIK3CA0.36516104
131SRC0.36222273
132ADRBK10.35482334
133MAP3K50.35302125
134TGFBR10.34994685
135PDK10.33124114
136MAP3K20.32834996
137PAK30.32504540
138PDK20.31904282
139PRKCE0.31744537
140GRK50.31696568
141FGFR10.29062219
142BCR0.28867329
143ABL10.28831182
144PBK0.28531386
145PAK60.28457130
146PAK10.26881192
147MAP3K10.26670618
148SGK20.26632304
149CDK90.26222926
150NUAK10.24184709
151AKT30.22942017
152EPHA20.22868364
153EIF2AK10.22767426
154CSNK1G30.22454591
155CSNK1G20.22436563
156MAP2K20.22301190
157PTK2B0.22049172
158SGK2230.22019966
159AURKA0.21592144
160PRKD10.21548889

Predicted pathways (KEGG)

RankGene SetZ-score
1Primary bile acid biosynthesis_Homo sapiens_hsa001204.55844007
2ECM-receptor interaction_Homo sapiens_hsa045123.73647647
3Nitrogen metabolism_Homo sapiens_hsa009103.60104065
4Ascorbate and aldarate metabolism_Homo sapiens_hsa000533.43112016
5Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004003.31783022
6Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005323.13907413
7Arginine biosynthesis_Homo sapiens_hsa002203.00752596
8Complement and coagulation cascades_Homo sapiens_hsa046102.89716567
9Tryptophan metabolism_Homo sapiens_hsa003802.72996790
10Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010402.67660761
11Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006302.59540664
12Focal adhesion_Homo sapiens_hsa045102.57621699
13Fatty acid degradation_Homo sapiens_hsa000712.50932237
14Glycine, serine and threonine metabolism_Homo sapiens_hsa002602.49521015
15Valine, leucine and isoleucine degradation_Homo sapiens_hsa002802.37164912
16Pentose and glucuronate interconversions_Homo sapiens_hsa000402.29134312
17Proteoglycans in cancer_Homo sapiens_hsa052052.13184913
18AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049332.12850977
19Butanoate metabolism_Homo sapiens_hsa006502.12260290
20Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.11596432
21Peroxisome_Homo sapiens_hsa041462.09375400
22Small cell lung cancer_Homo sapiens_hsa052222.05173662
23Propanoate metabolism_Homo sapiens_hsa006401.93686326
24Chemical carcinogenesis_Homo sapiens_hsa052041.92844762
25Steroid hormone biosynthesis_Homo sapiens_hsa001401.92502106
26PPAR signaling pathway_Homo sapiens_hsa033201.92042701
27Histidine metabolism_Homo sapiens_hsa003401.91235137
28Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.89970985
29Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.87236986
30Caffeine metabolism_Homo sapiens_hsa002321.83896241
31Other glycan degradation_Homo sapiens_hsa005111.81652124
32Fatty acid metabolism_Homo sapiens_hsa012121.79718410
33Staphylococcus aureus infection_Homo sapiens_hsa051501.74809945
34Drug metabolism - other enzymes_Homo sapiens_hsa009831.73865068
35Retinol metabolism_Homo sapiens_hsa008301.70217828
36beta-Alanine metabolism_Homo sapiens_hsa004101.70031972
37Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002501.68932398
38PI3K-Akt signaling pathway_Homo sapiens_hsa041511.66180112
39TNF signaling pathway_Homo sapiens_hsa046681.64434915
40Pantothenate and CoA biosynthesis_Homo sapiens_hsa007701.63592536
41Adherens junction_Homo sapiens_hsa045201.58262156
42Renal cell carcinoma_Homo sapiens_hsa052111.56217451
43Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.55510350
44Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.55149444
45Synthesis and degradation of ketone bodies_Homo sapiens_hsa000721.53539034
46Selenocompound metabolism_Homo sapiens_hsa004501.53081717
47Phenylalanine metabolism_Homo sapiens_hsa003601.53047543
48Bile secretion_Homo sapiens_hsa049761.51705975
49Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.45939621
50Regulation of actin cytoskeleton_Homo sapiens_hsa048101.44471332
512-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.44028662
52Vibrio cholerae infection_Homo sapiens_hsa051101.41822452
53Melanoma_Homo sapiens_hsa052181.40147624
54Tyrosine metabolism_Homo sapiens_hsa003501.39266352
55N-Glycan biosynthesis_Homo sapiens_hsa005101.38909328
56Salmonella infection_Homo sapiens_hsa051321.37088476
57Sulfur metabolism_Homo sapiens_hsa009201.36674326
58Pyruvate metabolism_Homo sapiens_hsa006201.36302496
59TGF-beta signaling pathway_Homo sapiens_hsa043501.34560589
60Starch and sucrose metabolism_Homo sapiens_hsa005001.32219085
61Pathways in cancer_Homo sapiens_hsa052001.31618419
62Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.31098819
63Fatty acid elongation_Homo sapiens_hsa000621.30781074
64Sphingolipid metabolism_Homo sapiens_hsa006001.29959395
65MicroRNAs in cancer_Homo sapiens_hsa052061.27848014
66Rheumatoid arthritis_Homo sapiens_hsa053231.26225962
67Dilated cardiomyopathy_Homo sapiens_hsa054141.26174838
68Thyroid cancer_Homo sapiens_hsa052161.24739653
69Chronic myeloid leukemia_Homo sapiens_hsa052201.24706341
70Cysteine and methionine metabolism_Homo sapiens_hsa002701.22947677
71Legionellosis_Homo sapiens_hsa051341.21868955
72Steroid biosynthesis_Homo sapiens_hsa001001.18267901
73Fat digestion and absorption_Homo sapiens_hsa049751.17963789
74Folate biosynthesis_Homo sapiens_hsa007901.16837882
75ABC transporters_Homo sapiens_hsa020101.16034076
76Biosynthesis of amino acids_Homo sapiens_hsa012301.13869957
77HIF-1 signaling pathway_Homo sapiens_hsa040661.13280733
78Shigellosis_Homo sapiens_hsa051311.11904850
79Carbon metabolism_Homo sapiens_hsa012001.11321473
80Cytokine-cytokine receptor interaction_Homo sapiens_hsa040601.10251540
81Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.06641893
82Hippo signaling pathway_Homo sapiens_hsa043901.06452663
83Jak-STAT signaling pathway_Homo sapiens_hsa046301.03200749
84Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.02983093
85Cyanoamino acid metabolism_Homo sapiens_hsa004601.01473439
86Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.00748735
87Pancreatic cancer_Homo sapiens_hsa052121.00075199
88ErbB signaling pathway_Homo sapiens_hsa040120.98694443
89Arginine and proline metabolism_Homo sapiens_hsa003300.97297497
90Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.96293312
91Maturity onset diabetes of the young_Homo sapiens_hsa049500.94270801
92Vitamin digestion and absorption_Homo sapiens_hsa049770.92208724
93p53 signaling pathway_Homo sapiens_hsa041150.91042006
94Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.87693798
95Glioma_Homo sapiens_hsa052140.86959438
96Vitamin B6 metabolism_Homo sapiens_hsa007500.86719847
97Sulfur relay system_Homo sapiens_hsa041220.86525438
98Lysosome_Homo sapiens_hsa041420.86039816
99Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.85991570
100Pathogenic Escherichia coli infection_Homo sapiens_hsa051300.85494751
101Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.84875839
102Lysine degradation_Homo sapiens_hsa003100.83217452
103Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.82294322
104Axon guidance_Homo sapiens_hsa043600.80913000
105Rap1 signaling pathway_Homo sapiens_hsa040150.78533307
106VEGF signaling pathway_Homo sapiens_hsa043700.76673331
107Other types of O-glycan biosynthesis_Homo sapiens_hsa005140.76494828
108Prostate cancer_Homo sapiens_hsa052150.74753848
109NOD-like receptor signaling pathway_Homo sapiens_hsa046210.73578143
110Ras signaling pathway_Homo sapiens_hsa040140.71840613
111Endocytosis_Homo sapiens_hsa041440.71553917
112Thyroid hormone signaling pathway_Homo sapiens_hsa049190.70900232
113Glycolysis / Gluconeogenesis_Homo sapiens_hsa000100.70834698
114Tight junction_Homo sapiens_hsa045300.70344754
115Glutathione metabolism_Homo sapiens_hsa004800.70177477
116One carbon pool by folate_Homo sapiens_hsa006700.69689214
117Glycerolipid metabolism_Homo sapiens_hsa005610.66223737
118Leukocyte transendothelial migration_Homo sapiens_hsa046700.62899785
119Endometrial cancer_Homo sapiens_hsa052130.61194569
120Phospholipase D signaling pathway_Homo sapiens_hsa040720.60526993
121Gap junction_Homo sapiens_hsa045400.59265320
122GnRH signaling pathway_Homo sapiens_hsa049120.58293662
123Pentose phosphate pathway_Homo sapiens_hsa000300.58187798
124Neurotrophin signaling pathway_Homo sapiens_hsa047220.57468008
125Basal cell carcinoma_Homo sapiens_hsa052170.55025269
126Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.54953236
127Phagosome_Homo sapiens_hsa041450.54190765
128Non-small cell lung cancer_Homo sapiens_hsa052230.52672301
129Hepatitis B_Homo sapiens_hsa051610.52350509
130Melanogenesis_Homo sapiens_hsa049160.51343735
131Estrogen signaling pathway_Homo sapiens_hsa049150.50770505
132Fatty acid biosynthesis_Homo sapiens_hsa000610.49287233
133Dorso-ventral axis formation_Homo sapiens_hsa043200.47000159
134Mineral absorption_Homo sapiens_hsa049780.46698364
135Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.45958543
136Metabolic pathways_Homo sapiens_hsa011000.43816947
137FoxO signaling pathway_Homo sapiens_hsa040680.42537406
138Apoptosis_Homo sapiens_hsa042100.41731090
139Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.41650009
140Prolactin signaling pathway_Homo sapiens_hsa049170.41465462
141MAPK signaling pathway_Homo sapiens_hsa040100.41385466
142Hedgehog signaling pathway_Homo sapiens_hsa043400.40676802
143Prion diseases_Homo sapiens_hsa050200.39452863
144Inositol phosphate metabolism_Homo sapiens_hsa005620.38464495
145NF-kappa B signaling pathway_Homo sapiens_hsa040640.37880510
146Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.37291092
147Galactose metabolism_Homo sapiens_hsa000520.33597803
148alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.32165740
149Linoleic acid metabolism_Homo sapiens_hsa005910.25908421
150Insulin resistance_Homo sapiens_hsa049310.23553314
151Adipocytokine signaling pathway_Homo sapiens_hsa049200.22708142
152Fructose and mannose metabolism_Homo sapiens_hsa000510.19992533
153Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.16111535
154Glycerophospholipid metabolism_Homo sapiens_hsa005640.11684567
155Glucagon signaling pathway_Homo sapiens_hsa049220.05919247
156AMPK signaling pathway_Homo sapiens_hsa041520.01655894
157Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.00222057
158Pertussis_Homo sapiens_hsa05133-0.2198967
159Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa00604-0.2150418
160Protein digestion and absorption_Homo sapiens_hsa04974-0.1997151
161Malaria_Homo sapiens_hsa05144-0.1951610
162Regulation of autophagy_Homo sapiens_hsa04140-0.1851147
163Bladder cancer_Homo sapiens_hsa05219-0.1837663
164Systemic lupus erythematosus_Homo sapiens_hsa05322-0.1753832
165Hepatitis C_Homo sapiens_hsa05160-0.1567639
166Thyroid hormone synthesis_Homo sapiens_hsa04918-0.1523970
167Renin-angiotensin system_Homo sapiens_hsa04614-0.1458879
168Central carbon metabolism in cancer_Homo sapiens_hsa05230-0.1397450
169Amoebiasis_Homo sapiens_hsa05146-0.1285505
170Insulin signaling pathway_Homo sapiens_hsa04910-0.1242718
171African trypanosomiasis_Homo sapiens_hsa05143-0.1231528
172Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa00534-0.1155295
173Protein processing in endoplasmic reticulum_Homo sapiens_hsa04141-0.1137321
174Arachidonic acid metabolism_Homo sapiens_hsa00590-0.0939658
175Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa04932-0.0875300
176Glycosaminoglycan degradation_Homo sapiens_hsa00531-0.0267333
177Ovarian steroidogenesis_Homo sapiens_hsa04913-0.0219259

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