TPSAB1

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: Tryptases comprise a family of trypsin-like serine proteases, the peptidase family S1. Tryptases are enzymatically active only as heparin-stabilized tetramers, and they are resistant to all known endogenous proteinase inhibitors. Several tryptase genes are clustered on chromosome 16p13.3. These genes are characterized by several distinct features. They have a highly conserved 3' UTR and contain tandem repeat sequences at the 5' flank and 3' UTR which are thought to play a role in regulation of the mRNA stability. These genes have an intron immediately upstream of the initiator Met codon, which separates the site of transcription initiation from protein coding sequence. This feature is characteristic of tryptases but is unusual in other genes. The alleles of this gene exhibit an unusual amount of sequence variation, such that the alleles were once thought to represent two separate genes, alpha and beta 1. Beta tryptases appear to be the main isoenzymes expressed in mast cells; whereas in basophils, alpha tryptases predominate. Tryptases have been implicated as mediators in the pathogenesis of asthma and other allergic and inflammatory disorders. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1pathway-restricted SMAD protein phosphorylation (GO:0060389)6.40604239
2angiotensin maturation (GO:0002003)6.39822493
3fibroblast migration (GO:0010761)5.69620821
4gland morphogenesis (GO:0022612)5.63154122
5hemidesmosome assembly (GO:0031581)5.20336913
6protein heterotrimerization (GO:0070208)5.07065529
7regulation of cellular extravasation (GO:0002691)5.05537812
8skin morphogenesis (GO:0043589)4.64495807
9negative regulation of erythrocyte differentiation (GO:0045647)4.52678338
10regulation of dendritic cell antigen processing and presentation (GO:0002604)4.32902675
11antimicrobial humoral response (GO:0019730)4.20584972
12bone trabecula formation (GO:0060346)4.19710129
13regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)4.18679671
14complement activation, classical pathway (GO:0006958)4.10263285
15NADH metabolic process (GO:0006734)4.02660346
16collagen fibril organization (GO:0030199)4.02106561
17antibacterial humoral response (GO:0019731)4.01223888
18antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)3.89979062
19antigen processing and presentation of endogenous peptide antigen (GO:0002483)3.87036928
20antigen processing and presentation of endogenous antigen (GO:0019883)3.81545624
21positive regulation of antigen processing and presentation (GO:0002579)3.79388028
22peptide catabolic process (GO:0043171)3.76140178
23collagen catabolic process (GO:0030574)3.75188849
24response to parathyroid hormone (GO:0071107)3.74053950
25positive regulation of meiosis (GO:0045836)3.73951096
26collagen metabolic process (GO:0032963)3.68354270
27positive regulation of pseudopodium assembly (GO:0031274)3.67930069
28forebrain morphogenesis (GO:0048853)3.67825969
29positive regulation of hair cycle (GO:0042635)3.67546222
30positive regulation of hair follicle development (GO:0051798)3.67546222
31complement activation (GO:0006956)3.64419517
32basement membrane organization (GO:0071711)3.62468687
33regulation of hair follicle development (GO:0051797)3.60874809
34detection of bacterium (GO:0016045)3.59495920
35regulation of vitamin metabolic process (GO:0030656)3.58357140
36germ cell migration (GO:0008354)3.57594234
37regulation of guanylate cyclase activity (GO:0031282)3.56234386
38immunoglobulin mediated immune response (GO:0016064)3.55052656
39regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033393.51667699
40multicellular organismal macromolecule metabolic process (GO:0044259)3.51308189
41establishment of nucleus localization (GO:0040023)3.49928079
42cellular response to growth hormone stimulus (GO:0071378)3.49219848
43positive regulation of meiotic cell cycle (GO:0051446)3.48797903
44regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:00433.45566300
45multicellular organismal catabolic process (GO:0044243)3.44764025
46detection of other organism (GO:0098543)3.43106504
47regulation of respiratory burst (GO:0060263)3.42998148
48glycosphingolipid catabolic process (GO:0046479)3.41861511
49regulation of antigen processing and presentation (GO:0002577)3.41695558
50virion attachment to host cell (GO:0019062)3.37268346
51adhesion of symbiont to host cell (GO:0044650)3.37268346
52endodermal cell differentiation (GO:0035987)3.36931143
53cytoskeletal anchoring at plasma membrane (GO:0007016)3.36811650
54multicellular organismal metabolic process (GO:0044236)3.34551101
55regulation of transforming growth factor beta2 production (GO:0032909)3.33260339
56regulation of meiosis I (GO:0060631)3.30426631
57regulation of pseudopodium assembly (GO:0031272)3.30211043
58glial cell migration (GO:0008347)3.29722069
59growth hormone receptor signaling pathway (GO:0060396)3.27364194
60peripheral nervous system axon ensheathment (GO:0032292)3.26766602
61myelination in peripheral nervous system (GO:0022011)3.26766602
62glycolipid catabolic process (GO:0019377)3.25469290
63cellular response to interferon-alpha (GO:0035457)3.23671708
64response to lipoprotein particle (GO:0055094)3.22912975
65apoptotic cell clearance (GO:0043277)3.21674660
66morphogenesis of an epithelial fold (GO:0060571)3.16864147
67eosinophil migration (GO:0072677)3.15467350
68cell-substrate junction assembly (GO:0007044)3.09458748
69cellular response to thyroid hormone stimulus (GO:0097067)3.08565478
70positive regulation of gamma-delta T cell activation (GO:0046645)3.08276173
71urea cycle (GO:0000050)3.07751162
72surfactant homeostasis (GO:0043129)3.07499750
73positive regulation of Cdc42 GTPase activity (GO:0043089)3.06045769
74blood vessel maturation (GO:0001955)3.05179474
75intestinal absorption (GO:0050892)3.05065808
76eosinophil chemotaxis (GO:0048245)3.03873652
77activin receptor signaling pathway (GO:0032924)3.00630007
78fat-soluble vitamin biosynthetic process (GO:0042362)2.93672384
79hormone catabolic process (GO:0042447)2.93630785
80epithelial cell-cell adhesion (GO:0090136)2.92599374
81* extracellular matrix disassembly (GO:0022617)2.91461063
82positive regulation of B cell differentiation (GO:0045579)2.90865278
83face morphogenesis (GO:0060325)2.90816948
84phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)2.90265321
85stress fiber assembly (GO:0043149)2.88694568
86piRNA metabolic process (GO:0034587)2.87600590
87glomerular filtration (GO:0003094)2.86871017
88adhesion of symbiont to host (GO:0044406)2.86522855
89germinal center formation (GO:0002467)2.86234213
90extracellular fibril organization (GO:0043206)2.83491267
91cellular response to reactive nitrogen species (GO:1902170)2.83269525
92regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.82194232
93urea metabolic process (GO:0019627)2.82116810
94response to nitric oxide (GO:0071731)2.81984260
95renal filtration (GO:0097205)2.80949140
96positive regulation of lipoprotein lipase activity (GO:0051006)2.78861566
97positive regulation of triglyceride lipase activity (GO:0061365)2.78861566
98fructose metabolic process (GO:0006000)2.77839656
99response to follicle-stimulating hormone (GO:0032354)2.77253035
100regulation of macrophage cytokine production (GO:0010935)2.75741224
101lipoxygenase pathway (GO:0019372)2.75718151
102regulation of cholesterol storage (GO:0010885)2.75717166
103regulation of hair cycle (GO:0042634)2.74447887
104low-density lipoprotein particle clearance (GO:0034383)2.73323418
105interferon-gamma-mediated signaling pathway (GO:0060333)2.72941327
106diacylglycerol metabolic process (GO:0046339)2.72302850
107mannose metabolic process (GO:0006013)2.71260402
108ethanol oxidation (GO:0006069)2.70206937
109ceramide catabolic process (GO:0046514)2.69621870
110cyclooxygenase pathway (GO:0019371)2.69494149
111protein activation cascade (GO:0072376)2.68514345
112negative regulation of macrophage derived foam cell differentiation (GO:0010745)2.68278343
113positive regulation of osteoblast proliferation (GO:0033690)2.68090770
114phosphatidylserine acyl-chain remodeling (GO:0036150)2.67840463
115negative regulation of inflammatory response to antigenic stimulus (GO:0002862)2.66991606
116cellular response to nitric oxide (GO:0071732)2.66680465
117regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)2.66619524
118oocyte development (GO:0048599)2.65818612
119positive regulation of respiratory burst (GO:0060267)2.65508206
120regulation of metanephros development (GO:0072215)2.65490290
121nitrogen cycle metabolic process (GO:0071941)2.64933197
122positive regulation of granulocyte chemotaxis (GO:0071624)2.63687806
123branching involved in salivary gland morphogenesis (GO:0060445)2.61745890
124trabecula formation (GO:0060343)2.61221154
125labyrinthine layer development (GO:0060711)2.60649752
126humoral immune response (GO:0006959)2.60367223
127NIK/NF-kappaB signaling (GO:0038061)2.60207569
128regulation of necrotic cell death (GO:0010939)2.60066011
129regulation of gamma-delta T cell differentiation (GO:0045586)2.60021243
130barbed-end actin filament capping (GO:0051016)2.59502717
131regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)2.59479221
132endocrine process (GO:0050886)2.59479221
133regulation of systemic arterial blood pressure by hormone (GO:0001990)2.59479221
134pinocytosis (GO:0006907)2.58957863
135positive regulation of cartilage development (GO:0061036)2.58077664
136positive regulation of male gonad development (GO:2000020)2.57621261
137sexual reproduction (GO:0019953)2.57433573
138negative regulation of granulocyte differentiation (GO:0030853)2.57324000
139cortical actin cytoskeleton organization (GO:0030866)2.55394003
140insulin-like growth factor receptor signaling pathway (GO:0048009)2.55052216
141lipoprotein transport (GO:0042953)2.54403762
142regulation of apoptotic cell clearance (GO:2000425)2.53625229
143keratinization (GO:0031424)2.53540045
144neutrophil activation involved in immune response (GO:0002283)2.53089188
145wound healing (GO:0042060)2.52526208
146positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)2.52048483
147cardiac muscle cell proliferation (GO:0060038)2.51424323
148positive regulation of neutrophil chemotaxis (GO:0090023)2.51007885
149positive regulation of neutrophil migration (GO:1902624)2.51007885
150response to thyroid hormone (GO:0097066)2.50770508
151negative regulation of metanephros development (GO:0072217)2.50765121
152spinal cord association neuron differentiation (GO:0021527)2.50689084
153positive regulation of guanylate cyclase activity (GO:0031284)2.50405337
154positive regulation of odontogenesis (GO:0042482)2.50102876
155leukotriene metabolic process (GO:0006691)2.49977413
156regulation of cardioblast differentiation (GO:0051890)2.49081006
157antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.48567876
158B cell mediated immunity (GO:0019724)2.46816257
159transcytosis (GO:0045056)2.46147302
160positive regulation of metanephros development (GO:0072216)2.45334449
161atrioventricular valve morphogenesis (GO:0003181)2.44490501
162opsonization (GO:0008228)2.43803613
163mesonephros development (GO:0001823)2.43087487
164protein autoprocessing (GO:0016540)2.42210317
165regulation of gamma-delta T cell activation (GO:0046643)2.42070599
166regulation of p38MAPK cascade (GO:1900744)2.41595036
167planar cell polarity pathway involved in neural tube closure (GO:0090179)2.41246632
168regulation of integrin activation (GO:0033623)2.41200116
169response to laminar fluid shear stress (GO:0034616)2.41082641
170wound healing, spreading of epidermal cells (GO:0035313)2.40915904
171mesenchymal to epithelial transition (GO:0060231)2.40345927
172ethanol metabolic process (GO:0006067)2.39153569
173skin development (GO:0043588)2.38972480
174mature B cell differentiation involved in immune response (GO:0002313)2.38304646
175detection of molecule of bacterial origin (GO:0032490)2.38024585
176detection of external biotic stimulus (GO:0098581)2.37936608
177response to peptidoglycan (GO:0032494)2.37712430
178angiogenesis involved in wound healing (GO:0060055)2.37409936
179semaphorin-plexin signaling pathway (GO:0071526)2.36466900
180fibril organization (GO:0097435)2.36461790
181positive regulation of macrophage activation (GO:0043032)2.36340828
182mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.36045268
183T-helper 1 type immune response (GO:0042088)2.35953257
184positive regulation of p38MAPK cascade (GO:1900745)2.35817065
185regulation of T-helper 1 cell differentiation (GO:0045625)2.35813103
186dendritic cell chemotaxis (GO:0002407)2.32768619
187regulation of SMAD protein import into nucleus (GO:0060390)2.32710500
188regulation of vitamin D biosynthetic process (GO:0060556)2.32383334
189enteric nervous system development (GO:0048484)2.32122718
190protein localization to endosome (GO:0036010)2.32064850
191positive regulation of lymphocyte migration (GO:2000403)2.32062879
192phospholipid homeostasis (GO:0055091)2.31691959
193regulation of cGMP biosynthetic process (GO:0030826)2.31471272
194phosphatidylinositol acyl-chain remodeling (GO:0036149)2.31390427
195molting cycle (GO:0042303)2.28310699
196hair cycle (GO:0042633)2.28310699
197epithelial cell differentiation involved in prostate gland development (GO:0060742)2.26560887

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human5.43519814
2BP1_19119308_ChIP-ChIP_Hs578T_Human4.81908125
3IRF8_22096565_ChIP-ChIP_GC-B_Human4.01878606
4TRIM28_21343339_ChIP-Seq_HEK293_Human3.66466202
5FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse3.44767021
6STAT6_21828071_ChIP-Seq_BEAS2B_Human3.02095944
7IRF1_21803131_ChIP-Seq_MONOCYTES_Human2.86298852
8NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse2.80788771
9CLOCK_20551151_ChIP-Seq_293T_Human2.78110253
10ESR1_21235772_ChIP-Seq_MCF-7_Human2.64493807
11RARG_19884340_ChIP-ChIP_MEFs_Mouse2.62892877
12VDR_21846776_ChIP-Seq_THP-1_Human2.62522571
13ESR2_21235772_ChIP-Seq_MCF-7_Human2.53290163
14VDR_24763502_ChIP-Seq_THP-1_Human2.47492803
15GATA1_22025678_ChIP-Seq_K562_Human2.19432177
16ZNF263_19887448_ChIP-Seq_K562_Human2.18177842
17SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.08212180
18MECOM_23826213_ChIP-Seq_KASUMI_Mouse2.07529741
19ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.99535180
20EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.99392638
21TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.96845017
22WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.93439968
23IRF8_21731497_ChIP-ChIP_J774_Mouse1.92759073
24CDX2_20551321_ChIP-Seq_CACO-2_Human1.89470812
25SCL_19346495_ChIP-Seq_HPC-7_Human1.89470327
26NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse1.83224525
27TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.81897544
28IRF8_27001747_Chip-Seq_BMDM_Mouse1.78351952
29KDM2B_26808549_Chip-Seq_SUP-B15_Human1.78188450
30EGR1_19374776_ChIP-ChIP_THP-1_Human1.76139355
31MYB_21317192_ChIP-Seq_ERMYB_Mouse1.74287343
32ELK3_25401928_ChIP-Seq_HUVEC_Human1.73893781
33RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.70026777
34KLF2_18264089_ChIP-ChIP_MESCs_Mouse1.67324162
35KLF5_18264089_ChIP-ChIP_MESCs_Mouse1.67324162
36KLF4_18264089_ChIP-ChIP_MESCs_Mouse1.67324162
37PPARA_22158963_ChIP-Seq_LIVER_Mouse1.65982392
38KDM2B_26808549_Chip-Seq_K562_Human1.65934501
39RXR_22158963_ChIP-Seq_LIVER_Mouse1.64659915
40RUNX1_22412390_ChIP-Seq_EML_Mouse1.60409862
41KDM2B_26808549_Chip-Seq_DND41_Human1.60104638
42STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.60062767
43HIF1A_21447827_ChIP-Seq_MCF-7_Human1.59523071
44SOX2_27498859_Chip-Seq_STOMACH_Mouse1.58815877
45NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.58437616
46SOX9_24532713_ChIP-Seq_HFSC_Mouse1.58082118
47ZFP281_18757296_ChIP-ChIP_E14_Mouse1.57159243
48SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.57111594
49RACK7_27058665_Chip-Seq_MCF-7_Human1.54049024
50RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.53815685
51P300_27058665_Chip-Seq_ZR-75-30cells_Human1.53316501
52THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse1.52365467
53CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human1.52194902
54SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.51975849
55EP300_21415370_ChIP-Seq_HL-1_Mouse1.49276875
56PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.47536189
57MYC_22102868_ChIP-Seq_BL_Human1.47219290
58EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.47206147
59STAT4_19710469_ChIP-ChIP_TH1__Mouse1.46669922
60BCOR_27268052_Chip-Seq_Bcells_Human1.46175380
61PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.45747596
62E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.44342504
63BCL6_27268052_Chip-Seq_Bcells_Human1.43381010
64KDM2B_26808549_Chip-Seq_JURKAT_Human1.42967695
65MAF_26560356_Chip-Seq_TH1_Human1.42850361
66MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.42803648
67RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.42305560
68GATA2_21666600_ChIP-Seq_HMVEC_Human1.42244168
69SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.41436112
70SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.41436112
71KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.41367174
72* UTX_26944678_Chip-Seq_JUKART_Human1.40287693
73CEBPB_20176806_ChIP-Seq_THIOMACROPHAGE_Mouse1.39298781
74EZH2_18974828_ChIP-Seq_MESCs_Mouse1.38213346
75RNF2_18974828_ChIP-Seq_MESCs_Mouse1.38213346
76GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.38083437
77BRD4_27068464_Chip-Seq_AML-cells_Mouse1.37635877
78UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.37579156
79WT1_19549856_ChIP-ChIP_CCG9911_Human1.37234670
80GATA1_22383799_ChIP-Seq_G1ME_Mouse1.36019537
81CDX2_19796622_ChIP-Seq_MESCs_Mouse1.35594557
82LXR_22292898_ChIP-Seq_THP-1_Human1.35543195
83KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.34808223
84AR_21572438_ChIP-Seq_LNCaP_Human1.34075486
85DMRT1_23473982_ChIP-Seq_TESTES_Mouse1.34014988
86TCF7_22412390_ChIP-Seq_EML_Mouse1.33967016
87GATA2_19941826_ChIP-Seq_K562_Human1.33554898
88TBX20_22080862_ChIP-Seq_HEART_Mouse1.33525658
89TBX20_22328084_ChIP-Seq_HEART_Mouse1.33525658
90STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.33297776
91ESR1_20079471_ChIP-ChIP_T-47D_Human1.32713590
92SPI1_23547873_ChIP-Seq_NB4_Human1.32463974
93FOXO3_23340844_ChIP-Seq_DLD1_Human1.32089859
94GATA1_19941827_ChIP-Seq_MEL_Mouse1.31875659
95VDR_24787735_ChIP-Seq_THP-1_Human1.31038042
96PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.30129117
97CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.30026691
98BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.28826258
99SPI1_23127762_ChIP-Seq_K562_Human1.28788330
100GATA2_22383799_ChIP-Seq_G1ME_Mouse1.28778575
101CJUN_26792858_Chip-Seq_BT549_Human1.27482942
102GATA1_19941826_ChIP-Seq_K562_Human1.27338193
103ZNF217_24962896_ChIP-Seq_MCF-7_Human1.26763940
104BMI1_19503595_ChIP-Seq_MEFsC_Mouse1.24417503
105TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.24179431
106KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.23385387
107LXR_22158963_ChIP-Seq_LIVER_Mouse1.23156036
108ZNF652_21678463_ChIP-ChIP_ZR75-1_Human1.23090816
109LMO2_20887958_ChIP-Seq_HPC-7_Mouse1.23050835
110ZFP281_27345836_Chip-Seq_ESCs_Mouse1.21653562
111CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.21211918
112CTCF_27219007_Chip-Seq_ERYTHROID_Human1.21124066
113TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.19174285
114NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.18412189
115RNF2_16625203_ChIP-ChIP_MESCs_Mouse1.17824618
116Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.17651381
117MYB_26560356_Chip-Seq_TH2_Human1.17513049
118ISL1_27105846_Chip-Seq_CPCs_Mouse1.17210056
119SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.15986787
120SA1_27219007_Chip-Seq_ERYTHROID_Human1.15611562
121FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.15435187
122TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.13841181
123* UBF1/2_26484160_Chip-Seq_HMECs_Human1.12456708
124RUNX_20019798_ChIP-Seq_JUKART_Human1.11836170
125ATF3_27146783_Chip-Seq_COLON_Human1.11413575
126LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.10593579
127TET1_21451524_ChIP-Seq_MESCs_Mouse1.10570753
128MYB_26560356_Chip-Seq_TH1_Human1.10193611
129P68_20966046_ChIP-Seq_HELA_Human1.09788641
130GATA4_25053715_ChIP-Seq_YYC3_Human1.09437531
131CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.08732271
132SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.08715134
133EGR1_19032775_ChIP-ChIP_M12_Human1.08698707
134GATA6_25053715_ChIP-Seq_YYC3_Human1.07166207
135NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.06945633
136SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.06640675
137DNAJC2_21179169_ChIP-ChIP_NT2_Human1.06277443
138ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.05753369
139EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.05192089
140TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.05138295
141WT1_25993318_ChIP-Seq_PODOCYTE_Human1.04809356
142NCOR1_26117541_ChIP-Seq_K562_Human1.04389523
143EED_16625203_ChIP-ChIP_MESCs_Mouse1.04370969
144PU.1_20513432_ChIP-Seq_Bcells_Mouse1.04132948
145SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.03349653
146SA1_27219007_Chip-Seq_Bcells_Human1.02978478
147STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.02555541
148RUNX1_27514584_Chip-Seq_MCF-7_Human1.02032734
149SMAD2/3_21741376_ChIP-Seq_ESCs_Human1.01766170
150NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.01458267
151STAT3_22323479_ChIP-Seq_MACROPHAGE_Mouse1.01358131
152FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse1.01325080
153TCF3_18467660_ChIP-ChIP_MESCs_Mouse1.00722515
154PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.00068374
155VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human0.99578513
156CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human0.99522364
157TCF4_18268006_ChIP-ChIP_LS174T_Human0.99518870
158TP53_16413492_ChIP-PET_HCT116_Human0.99157828
159DROSHA_22980978_ChIP-Seq_HELA_Human0.98983551
160PPAR_26484153_Chip-Seq_NCI-H1993_Human0.98421030
161MTF2_20144788_ChIP-Seq_MESCs_Mouse0.97937681
162P63_26484246_Chip-Seq_KERATINOCYTES_Human0.97378665
163SUZ12_18692474_ChIP-Seq_MEFs_Mouse0.96347718
164KLF5_25053715_ChIP-Seq_YYC3_Human0.95543172
165ESR1_15608294_ChIP-ChIP_MCF-7_Human0.94970694
166SOX2_20726797_ChIP-Seq_SW620_Human0.93850529
167TP53_22127205_ChIP-Seq_IMR90_Human0.93367574
168ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.93354673
169SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.91233786
170KDM2B_26808549_Chip-Seq_HPB-ALL_Human0.91154989
171SUZ12_18974828_ChIP-Seq_MESCs_Mouse0.90824218
172CREB1_26743006_Chip-Seq_LNCaP_Human0.90428170

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0008438_abnormal_cutaneous_collagen6.44429001
2MP0002254_reproductive_system_inflammat4.51868219
3MP0005275_abnormal_skin_tensile4.17974939
4MP0003705_abnormal_hypodermis_morpholog3.72086426
5MP0005360_urolithiasis3.44741615
6MP0006054_spinal_hemorrhage3.10001124
7MP0003724_increased_susceptibility_to2.83892762
8MP0009840_abnormal_foam_cell2.76306268
9MP0010155_abnormal_intestine_physiology2.72663721
10MP0004272_abnormal_basement_membrane2.59968206
11MP0000579_abnormal_nail_morphology2.46450514
12* MP0003436_decreased_susceptibility_to2.44873012
13MP0003566_abnormal_cell_adhesion2.42977631
14MP0005503_abnormal_tendon_morphology2.42036221
15MP0009379_abnormal_foot_pigmentation2.35177555
16MP0002139_abnormal_hepatobiliary_system2.24321282
17MP0000751_myopathy2.21306266
18MP0001835_abnormal_antigen_presentation2.21223873
19MP0003123_paternal_imprinting2.19407164
20MP0001958_emphysema2.17064749
21MP0005623_abnormal_meninges_morphology2.16167721
22MP0005025_abnormal_response_to2.14792326
23MP0004782_abnormal_surfactant_physiolog2.12335752
24MP0000465_gastrointestinal_hemorrhage2.11370472
25MP0003191_abnormal_cellular_cholesterol2.09532364
26MP0002060_abnormal_skin_morphology2.02715331
27MP0003091_abnormal_cell_migration2.00769170
28MP0001545_abnormal_hematopoietic_system1.98115090
29MP0005397_hematopoietic_system_phenotyp1.98115090
30MP0003183_abnormal_peptide_metabolism1.96055058
31MP0002148_abnormal_hypersensitivity_rea1.94742407
32MP0005387_immune_system_phenotype1.91320533
33MP0001790_abnormal_immune_system1.91320533
34MP0001243_abnormal_dermal_layer1.90170165
35MP0009785_altered_susceptibility_to1.87532297
36MP0003300_gastrointestinal_ulcer1.85971510
37MP0001666_abnormal_nutrient_absorption1.85073227
38* MP0002419_abnormal_innate_immunity1.81284964
39MP0000383_abnormal_hair_follicle1.80070598
40MP0000462_abnormal_digestive_system1.76849173
41MP0000733_abnormal_muscle_development1.74622758
42MP0003866_abnormal_defecation1.72332391
43MP0005166_decreased_susceptibility_to1.71265461
44MP0005409_darkened_coat_color1.69917735
45MP0004264_abnormal_extraembryonic_tissu1.69788496
46MP0010678_abnormal_skin_adnexa1.69433568
47MP0005464_abnormal_platelet_physiology1.66227172
48MP0005023_abnormal_wound_healing1.63681469
49MP0010352_gastrointestinal_tract_polyps1.63078623
50* MP0005000_abnormal_immune_tolerance1.62497035
51MP0000003_abnormal_adipose_tissue1.61944448
52MP0006082_CNS_inflammation1.58414065
53MP0000685_abnormal_immune_system1.57021297
54MP0003121_genomic_imprinting1.55976088
55MP0003950_abnormal_plasma_membrane1.55938151
56MP0003045_fibrosis1.54132601
57* MP0001533_abnormal_skeleton_physiology1.53584446
58MP0010234_abnormal_vibrissa_follicle1.53562871
59MP0000604_amyloidosis1.51064083
60MP0001800_abnormal_humoral_immune1.50631186
61MP0001873_stomach_inflammation1.50496032
62MP0004147_increased_porphyrin_level1.45284309
63MP0001845_abnormal_inflammatory_respons1.44509254
64MP0002108_abnormal_muscle_morphology1.43664906
65MP0008877_abnormal_DNA_methylation1.43462818
66MP0003172_abnormal_lysosome_physiology1.43210934
67MP0002396_abnormal_hematopoietic_system1.42048671
68MP0004019_abnormal_vitamin_homeostasis1.41148351
69MP0002452_abnormal_antigen_presenting1.40642411
70MP0003279_aneurysm1.36753655
71* MP0001819_abnormal_immune_cell1.35658105
72MP0002723_abnormal_immune_serum1.35273790
73* MP0002420_abnormal_adaptive_immunity1.34907627
74MP0009278_abnormal_bone_marrow1.34303359
75MP0003075_altered_response_to1.33889925
76MP0001663_abnormal_digestive_system1.32175438
77MP0002166_altered_tumor_susceptibility1.32108397
78MP0005365_abnormal_bile_salt1.31530517
79MP0000750_abnormal_muscle_regeneration1.31200566
80MP0001915_intracranial_hemorrhage1.31156909
81MP0003303_peritoneal_inflammation1.30691571
82MP0001661_extended_life_span1.30523587
83MP0009764_decreased_sensitivity_to1.28412078
84MP0003122_maternal_imprinting1.28096834
85MP0000013_abnormal_adipose_tissue1.27983386
86MP0005671_abnormal_response_to1.27185224
87MP0005085_abnormal_gallbladder_physiolo1.25971217
88MP0005666_abnormal_adipose_tissue1.25528519
89MP0005076_abnormal_cell_differentiation1.23273339
90MP0005167_abnormal_blood-brain_barrier1.23158306
91MP0002896_abnormal_bone_mineralization1.23046757
92MP0005508_abnormal_skeleton_morphology1.22045544
93MP0000490_abnormal_crypts_of1.19934177
94MP0000767_abnormal_smooth_muscle1.18217491
95MP0002295_abnormal_pulmonary_circulatio1.17236197
96MP0008469_abnormal_protein_level1.16338983
97MP0000427_abnormal_hair_cycle1.15948862
98MP0005451_abnormal_body_composition1.15624587
99MP0003656_abnormal_erythrocyte_physiolo1.14891588
100MP0009643_abnormal_urine_homeostasis1.13903524
101MP0003453_abnormal_keratinocyte_physiol1.12411959
102MP0002138_abnormal_hepatobiliary_system1.10909086
103MP0001853_heart_inflammation1.08840338
104MP0009053_abnormal_anal_canal1.08082943
105MP0005670_abnormal_white_adipose1.07681486
106MP0001216_abnormal_epidermal_layer1.07506066
107MP0009333_abnormal_splenocyte_physiolog1.05651780
108MP0004858_abnormal_nervous_system1.05554727
109MP0005501_abnormal_skin_physiology1.02767908
110MP0002796_impaired_skin_barrier1.01953964
111MP0003690_abnormal_glial_cell1.01722251
112MP0003806_abnormal_nucleotide_metabolis1.01103097
113MP0005381_digestive/alimentary_phenotyp1.00463047
114MP0003115_abnormal_respiratory_system1.00254058
115MP0004883_abnormal_blood_vessel1.00030625
116MP0001851_eye_inflammation0.99764431
117MP0005375_adipose_tissue_phenotype0.99108549
118MP0002971_abnormal_brown_adipose0.97416632
119MP0001664_abnormal_digestion0.97239721
120MP0002405_respiratory_system_inflammati0.97005879
121MP0000467_abnormal_esophagus_morphology0.96951435
122MP0010030_abnormal_orbit_morphology0.96725344
123MP0004185_abnormal_adipocyte_glucose0.96056482
124* MP0000716_abnormal_immune_system0.95792158
125MP0009384_cardiac_valve_regurgitation0.95572526
126MP0000477_abnormal_intestine_morphology0.94697773
127MP0005535_abnormal_body_temperature0.94292074
128MP0000343_altered_response_to0.93790337
129MP0001849_ear_inflammation0.93488062
130MP0000762_abnormal_tongue_morphology0.92308601
131MP0002009_preneoplasia0.91602305
132MP0005058_abnormal_lysosome_morphology0.90966037
133MP0005164_abnormal_response_to0.90341524
134MP0005165_increased_susceptibility_to0.90024261
135MP0004134_abnormal_chest_morphology0.89672217
136MP0008961_abnormal_basal_metabolism0.89038523
137MP0003763_abnormal_thymus_physiology0.88826433
138MP0009931_abnormal_skin_appearance0.88116483
139MP0009115_abnormal_fat_cell0.87947552
140MP0003828_pulmonary_edema0.86767709
141MP0000858_altered_metastatic_potential0.85864140
142MP0001764_abnormal_homeostasis0.85315562
143MP0003385_abnormal_body_wall0.84935112
144MP0002398_abnormal_bone_marrow0.83582309
145MP0010329_abnormal_lipoprotein_level0.83086813
146MP0000678_abnormal_parathyroid_gland0.83068008
147MP0002118_abnormal_lipid_homeostasis0.82815421
148MP0010771_integument_phenotype0.82237057
149MP0002098_abnormal_vibrissa_morphology0.80901812
150MP0003329_amyloid_beta_deposits0.80707083
151MP0004947_skin_inflammation0.79314094
152MP0004036_abnormal_muscle_relaxation0.77511247
153MP0004510_myositis0.76153315
154MP0004087_abnormal_muscle_fiber0.75693810
155MP0008004_abnormal_stomach_pH0.75523247
156MP0000249_abnormal_blood_vessel0.74753000
157MP0000534_abnormal_ureter_morphology0.74741929
158MP0000920_abnormal_myelination0.73282168
159MP0002128_abnormal_blood_circulation0.73020378
160MP0000377_abnormal_hair_follicle0.71696300
161MP0005330_cardiomyopathy0.70244960
162MP0000749_muscle_degeneration0.70193928
163MP0008995_early_reproductive_senescence0.68272274
164MP0003448_altered_tumor_morphology0.66537632
165MP0001614_abnormal_blood_vessel0.66010483
166MP0000747_muscle_weakness0.65279384
167MP0001879_abnormal_lymphatic_vessel0.65261625
168MP0010368_abnormal_lymphatic_system0.63429785
169MP0009672_abnormal_birth_weight0.63282337
170MP0002282_abnormal_trachea_morphology0.62720208
171MP0005369_muscle_phenotype0.61970389
172MP0002933_joint_inflammation0.61492228
173MP0004484_altered_response_of0.61308940
174MP0002998_abnormal_bone_remodeling0.61026558
175MP0001299_abnormal_eye_distance/0.60509857
176MP0002089_abnormal_postnatal_growth/wei0.59912951
177MP0001177_atelectasis0.59232169

Predicted human phenotypes

RankGene SetZ-score
1Premature rupture of membranes (HP:0001788)5.56463963
2Atrophic scars (HP:0001075)5.45183539
3Aortic dissection (HP:0002647)4.98856737
4Fragile skin (HP:0001030)4.78219125
5Ankle contracture (HP:0006466)4.62165846
6Milia (HP:0001056)4.54117911
7Type 1 muscle fiber predominance (HP:0003803)4.45300825
8Cerebral aneurysm (HP:0004944)4.42191534
9Abnormality of glutamine family amino acid metabolism (HP:0010902)4.41011601
10Eczematoid dermatitis (HP:0000976)4.36276815
11Increased IgE level (HP:0003212)4.24441435
12Increased connective tissue (HP:0009025)3.98483010
13Protrusio acetabuli (HP:0003179)3.94073246
14Neoplasm of the heart (HP:0100544)3.79945516
15Abnormality of complement system (HP:0005339)3.65090241
16Complement deficiency (HP:0004431)3.54143831
17Shallow orbits (HP:0000586)3.52057131
18Petechiae (HP:0000967)3.49091009
19Mitral valve prolapse (HP:0001634)3.46869190
20Spondylolisthesis (HP:0003302)3.43270089
21Aplasia/Hypoplasia of the 4th metacarpal (HP:0010042)3.42330283
22Short 4th metacarpal (HP:0010044)3.42330283
23Arterial tortuosity (HP:0005116)3.34687293
24Soft skin (HP:0000977)3.33331190
25Interstitial pulmonary disease (HP:0006530)3.31432878
26Glomerulonephritis (HP:0000099)3.26131932
27Chronic diarrhea (HP:0002028)3.21125172
28Slender build (HP:0001533)3.16152405
29Peritonitis (HP:0002586)3.11294049
30Follicular hyperkeratosis (HP:0007502)3.10897060
31Bladder diverticulum (HP:0000015)3.07461825
32Spinal rigidity (HP:0003306)2.99424806
33Vascular tortuosity (HP:0004948)2.93530223
34Abnormality of macrophages (HP:0004311)2.92691234
35Recurrent bacterial skin infections (HP:0005406)2.89135542
36Recurrent abscess formation (HP:0002722)2.88660657
37Mildly elevated creatine phosphokinase (HP:0008180)2.84020566
38Ileus (HP:0002595)2.76629135
39Broad metatarsal (HP:0001783)2.75527578
40Elevated erythrocyte sedimentation rate (HP:0003565)2.75441625
41Abnormality of the parietal bone (HP:0002696)2.73106957
42Colitis (HP:0002583)2.73017180
43Agammaglobulinemia (HP:0004432)2.72182366
44Supernumerary ribs (HP:0005815)2.71004325
45Aortic aneurysm (HP:0004942)2.70457742
46Increased variability in muscle fiber diameter (HP:0003557)2.68764855
47Abnormality of liposaccharide metabolism (HP:0010968)2.68335092
48Abnormality of glycosphingolipid metabolism (HP:0004343)2.68335092
49Abnormality of glycolipid metabolism (HP:0010969)2.68335092
50Abnormality of proline metabolism (HP:0010907)2.67526819
51Hydroxyprolinuria (HP:0003080)2.67526819
52Dysostosis multiplex (HP:0000943)2.62054492
53Osteolytic defects of the hand bones (HP:0009699)2.61413488
54Osteolytic defects of the phalanges of the hand (HP:0009771)2.61413488
55Ulnar bowing (HP:0003031)2.61219846
56Dilatation of the ascending aorta (HP:0005111)2.61130949
57Abnormality of the nasal mucosa (HP:0000433)2.60769840
58Abnormality of the 4th metacarpal (HP:0010012)2.58815118
59Prolonged bleeding time (HP:0003010)2.58610619
60Gingivitis (HP:0000230)2.58338460
61Striae distensae (HP:0001065)2.53337906
62Polycythemia (HP:0001901)2.53145952
63Decreased circulating renin level (HP:0003351)2.52576442
64Inflammation of the large intestine (HP:0002037)2.52563064
65Gastrointestinal inflammation (HP:0004386)2.50069332
66Myositis (HP:0100614)2.49285472
67Amyloidosis (HP:0011034)2.48445820
68Abnormality of small intestinal villus morphology (HP:0011472)2.45187235
69Villous atrophy (HP:0011473)2.45187235
70Nephritis (HP:0000123)2.43534356
71Abnormal delayed hypersensitivity skin test (HP:0002963)2.43381597
72Cellulitis (HP:0100658)2.43315290
73Spontaneous hematomas (HP:0007420)2.42452627
74Hypergammaglobulinemia (HP:0010702)2.41599821
75Purpura (HP:0000979)2.41238716
76Cerebral palsy (HP:0100021)2.41213808
77Abnormality of skeletal muscle fiber size (HP:0012084)2.41191454
78Hyporeflexia of lower limbs (HP:0002600)2.40323229
79Myocardial infarction (HP:0001658)2.39543517
80Chronic obstructive pulmonary disease (HP:0006510)2.38558367
81Obstructive lung disease (HP:0006536)2.38558367
82Hematochezia (HP:0002573)2.35862213
83Nausea (HP:0002018)2.34243546
84Hypoventilation (HP:0002791)2.33229227
85Urticaria (HP:0001025)2.32422293
86Pustule (HP:0200039)2.32329564
87Hemorrhage of the eye (HP:0011885)2.31759635
88Alopecia of scalp (HP:0002293)2.29553065
89Achilles tendon contracture (HP:0001771)2.28084683
90Abnormality of the distal phalanx of the thumb (HP:0009617)2.27503691
91Supernumerary bones of the axial skeleton (HP:0009144)2.26759944
92Malnutrition (HP:0004395)2.23936520
93Hyperactive renin-angiotensin system (HP:0000841)2.23400187
94Segmental peripheral demyelination/remyelination (HP:0003481)2.23041660
95Muscle fiber splitting (HP:0003555)2.21428454
96Autoimmune thrombocytopenia (HP:0001973)2.19675223
97Growth hormone excess (HP:0000845)2.19434675
98Increased cerebral lipofuscin (HP:0011813)2.18192671
99Hyperextensible skin (HP:0000974)2.18116603
100Abnormality of the peritoneum (HP:0002585)2.17760416
101Abnormality of monocarboxylic acid metabolism (HP:0010996)2.17506126
102Facial diplegia (HP:0001349)2.17449914
103Systemic lupus erythematosus (HP:0002725)2.16397486
104Hypoalphalipoproteinemia (HP:0003233)2.15832682
105Meningitis (HP:0001287)2.15772311
106Renovascular hypertension (HP:0100817)2.15401711
107Recurrent gram-negative bacterial infections (HP:0005420)2.14680174
108Osteomyelitis (HP:0002754)2.12212172
109Right ventricular cardiomyopathy (HP:0011663)2.12126567
110Recurrent fungal infections (HP:0002841)2.12109274
111Epistaxis (HP:0000421)2.11453527
112Vasculitis (HP:0002633)2.11434943
113Acanthocytosis (HP:0001927)2.11190310
114Disproportionate tall stature (HP:0001519)2.10907098
115Skin rash (HP:0000988)2.09834047
116Increased neuronal autofluorescent lipopigment (HP:0002074)2.09439853
117Vacuolated lymphocytes (HP:0001922)2.09299608
118Panhypogammaglobulinemia (HP:0003139)2.08985294
119Recurrent viral infections (HP:0004429)2.08803329
120Joint laxity (HP:0001388)2.08769435
121Erythema (HP:0010783)2.08703275
122Abnormality of the Achilles tendon (HP:0005109)2.08430390
123Increased serum ferritin (HP:0003281)2.07918982
124Gastrointestinal stroma tumor (HP:0100723)2.07549021
125Limb-girdle muscle weakness (HP:0003325)2.07174824
126Chronic otitis media (HP:0000389)2.07023243
127Mediastinal lymphadenopathy (HP:0100721)2.06843301
128Ankyloglossia (HP:0010296)2.06231547
129Blue sclerae (HP:0000592)2.04601964
130Widely patent fontanelles and sutures (HP:0004492)2.04399773
131Recurrent skin infections (HP:0001581)2.04368328
132Genu recurvatum (HP:0002816)2.01987012
133Orchitis (HP:0100796)2.01980665
134Polygenic inheritance (HP:0010982)2.01872449
135Emphysema (HP:0002097)2.00331739
136Wormian bones (HP:0002645)1.98965434
137Absent frontal sinuses (HP:0002688)1.96227475
138Abnormality of oral frenula (HP:0000190)1.95783879
139Loss of speech (HP:0002371)1.95609818
140Hyperparathyroidism (HP:0000843)1.95383108
141Fat malabsorption (HP:0002630)1.95362336
142Abnormality of iron homeostasis (HP:0011031)1.95233287
143Mesangial abnormality (HP:0001966)1.95085159
144Abnormal blistering of the skin (HP:0008066)1.93894870
145Palmoplantar hyperkeratosis (HP:0000972)1.93497791
146Nasal polyposis (HP:0100582)1.89944310
147Wide anterior fontanel (HP:0000260)1.89509843
148Abnormal hair laboratory examination (HP:0003328)1.89063616
149Gastrointestinal dysmotility (HP:0002579)1.88126673
150Abnormality of nail color (HP:0100643)1.88083139
151Encephalitis (HP:0002383)1.87564015
152Hypertriglyceridemia (HP:0002155)1.86224310
153Hypophosphatemia (HP:0002148)1.84610462
154Restrictive lung disease (HP:0002091)1.84359395
155Persistence of primary teeth (HP:0006335)1.83938304
156Premature loss of primary teeth (HP:0006323)1.83555502
157Narrow palate (HP:0000189)1.82762389
158Abnormality of B cell number (HP:0010975)1.82558694
159Alkalosis (HP:0001948)1.81870341
160Pili torti (HP:0003777)1.81634416
161Nonimmune hydrops fetalis (HP:0001790)1.81346076
162Aneurysm (HP:0002617)1.80397167
163Hemoptysis (HP:0002105)1.79623690
164Axonal loss (HP:0003447)1.79562326
165Difficulty running (HP:0009046)1.79487667
166Abnormality of the vasculature of the conjunctiva (HP:0008054)1.78279048
167Nail dystrophy (HP:0008404)1.75548820
168Elbow flexion contracture (HP:0002987)1.75096555
169Oligomenorrhea (HP:0000876)1.74615551
170Scapular winging (HP:0003691)1.74263177
171Venous abnormality (HP:0002624)1.74047775
172Thin bony cortex (HP:0002753)1.71584643
173Abnormal delivery (HP:0001787)1.70752204
174Thin skin (HP:0000963)1.69401453
175Bicuspid aortic valve (HP:0001647)1.68185531
176Arnold-Chiari malformation (HP:0002308)1.67992123
177Femoral bowing (HP:0002980)1.67255021
178Bronchomalacia (HP:0002780)1.67056482
179Hyperacusis (HP:0010780)1.66386079
180Venous insufficiency (HP:0005293)1.65674967
181Rectal prolapse (HP:0002035)1.64518151
182Selective tooth agenesis (HP:0001592)1.64095435
183Thick nail (HP:0001805)1.63287921
184Proximal amyotrophy (HP:0007126)1.63018874
185Fragile nails (HP:0001808)1.61945632
186Bowed forearm bones (HP:0003956)1.61700939
187Bowing of the arm (HP:0006488)1.61700939
188Wrist flexion contracture (HP:0001239)1.60435015
189Narrow nasal bridge (HP:0000446)1.58853301
190Tibial bowing (HP:0002982)1.57336151
191Down-sloping shoulders (HP:0200021)1.57309344
192Abnormality of the calcaneus (HP:0008364)1.56545216
193Bowel diverticulosis (HP:0005222)1.55847226
194Pulmonary artery stenosis (HP:0004415)1.55412157
195Renal duplication (HP:0000075)1.53408906

Predicted kinase interactions (KEA)

RankGene SetZ-score
1EPHA24.24944311
2EPHB14.13621814
3PRPF4B3.71956565
4TTN3.64246944
5MST1R3.55002661
6TRIB33.31273063
7DMPK2.66015242
8BLK2.53934814
9RIPK42.47790441
10PTK62.45225425
11MET2.42800235
12MAP4K12.42223677
13IRAK32.33569896
14EPHA32.22139901
15CAMK1D2.18087147
16ACVR1B2.13665174
17TGFBR21.98719139
18BMX1.97908708
19TBK11.93312733
20PKN21.91315859
21RIPK11.87399140
22FGFR41.87031146
23LMTK21.82336121
24CDK121.82080386
25FES1.73588256
26MATK1.71386628
27MAP3K101.70534564
28NME21.69363425
29SIK11.68845345
30ERN11.64714024
31MAP3K111.58569925
32FER1.52285972
33MAP3K141.50942860
34PRKD31.50343805
35TESK21.44514460
36MAP3K61.42235030
37PAK21.41404326
38CAMK1G1.40660259
39GRK61.39746834
40JAK31.38936373
41IKBKE1.33607951
42PIM21.33494975
43LATS11.32361515
44MAP3K31.31602202
45TAOK11.31480931
46LRRK21.31053490
47PTK21.29361951
48MTOR1.28685237
49MYLK1.25001901
50PRKG21.24708879
51FGFR11.23796456
52TAOK21.22036997
53SCYL21.21030995
54PDGFRA1.19898156
55EPHB21.17573582
56BTK1.15186663
57SYK1.10556404
58EEF2K1.07968885
59MAP2K21.07085004
60MAP3K21.05670911
61ILK1.03401849
62KDR1.01866861
63RPS6KB21.01857776
64LIMK10.99726994
65IKBKB0.99183950
66LYN0.97978312
67TRPM70.97263329
68CDK60.96842371
69JAK20.96604481
70NUAK10.96005539
71ABL20.94647907
72PTK2B0.90277801
73RET0.90241703
74FLT30.89871444
75TEC0.88407750
76PAK40.86915495
77PIK3CG0.86539234
78DDR20.86042142
79HIPK20.85357169
80MAP3K130.83610906
81ICK0.82670951
82ROCK20.81607501
83CSF1R0.81474140
84ROCK10.79281950
85FGFR20.79164210
86MAP3K10.78442309
87IRAK10.77298018
88IRAK40.75944051
89TXK0.71341915
90TNK20.70404239
91RPS6KC10.70080721
92RPS6KL10.70080721
93FGFR30.67947285
94BMPR20.66651751
95STK240.66317231
96LCK0.66258142
97MAPK120.63943357
98SMG10.63904494
99CDC42BPA0.62557727
100MAPK70.62383826
101MAPK40.60896976
102PHKG20.60819424
103PHKG10.60819424
104ITK0.60650469
105WNK10.60511213
106CSNK1A1L0.59612037
107KIT0.58509920
108MAP3K70.58316226
109MAP2K60.58169195
110PDK10.57408021
111JAK10.55568506
112CSK0.55005019
113RPS6KA60.54903148
114MAPKAPK30.54294468
115PIK3CA0.52888370
116RPS6KA50.52843991
117TYRO30.51584141
118PDGFRB0.50908917
119TESK10.50030203
120MAP2K30.49844310
121SRC0.49552633
122INSR0.47696422
123MAPK30.46102406
124ALK0.45578189
125RPS6KA20.45562181
126GSK3A0.45384573
127RPS6KA10.45274585
128MAPK110.43004354
129PIM10.42617511
130PRKD10.41945458
131MAPK150.39620529
132OBSCN0.39438255
133PRKAA20.39347089
134SGK4940.37889779
135SGK2230.37889779
136MARK20.37155387
137CAMK40.37139090
138SIK20.36893620
139TYK20.36839689
140STK30.36404553
141NLK0.36260662
142FYN0.36039540
143PDPK10.36004741
144CDK90.35883526
145MAPKAPK20.34115323
146ZAP700.33719715
147WNK30.33569363
148CLK10.33079086
149KSR20.32879683
150PAK10.32819400
151MAPK80.31571422
152EGFR0.30943364
153RAF10.26806733
154HCK0.25677700
155PAK30.25410344
156PRKCH0.25097696
157NTRK20.24702559
158PRKACB0.24335033

Predicted pathways (KEGG)

RankGene SetZ-score
1Asthma_Homo sapiens_hsa053103.30276660
2Cyanoamino acid metabolism_Homo sapiens_hsa004603.12379614
3ECM-receptor interaction_Homo sapiens_hsa045122.90716244
4Other glycan degradation_Homo sapiens_hsa005112.50792506
5Fat digestion and absorption_Homo sapiens_hsa049752.49868049
6Allograft rejection_Homo sapiens_hsa053302.43284125
7Intestinal immune network for IgA production_Homo sapiens_hsa046722.33538095
8Amoebiasis_Homo sapiens_hsa051462.29085290
9Focal adhesion_Homo sapiens_hsa045102.22494209
10Vitamin digestion and absorption_Homo sapiens_hsa049772.18796466
11Graft-versus-host disease_Homo sapiens_hsa053322.16811848
12Sulfur metabolism_Homo sapiens_hsa009202.15829601
13Autoimmune thyroid disease_Homo sapiens_hsa053202.14999112
14Proteoglycans in cancer_Homo sapiens_hsa052052.12839419
15Basal cell carcinoma_Homo sapiens_hsa052172.00399964
16TGF-beta signaling pathway_Homo sapiens_hsa043501.96978875
17Dorso-ventral axis formation_Homo sapiens_hsa043201.93884790
18alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.88978513
19Protein digestion and absorption_Homo sapiens_hsa049741.80648570
20Staphylococcus aureus infection_Homo sapiens_hsa051501.78127332
21AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.74935730
22Dilated cardiomyopathy_Homo sapiens_hsa054141.72890462
23Butirosin and neomycin biosynthesis_Homo sapiens_hsa005241.72464742
24Type I diabetes mellitus_Homo sapiens_hsa049401.71726406
25Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.70100556
26Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054121.66218564
27Adherens junction_Homo sapiens_hsa045201.64451470
28Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.63312668
29Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054101.60573410
30Lysine degradation_Homo sapiens_hsa003101.51749080
31Arachidonic acid metabolism_Homo sapiens_hsa005901.51625347
32Hedgehog signaling pathway_Homo sapiens_hsa043401.49824910
33Hippo signaling pathway_Homo sapiens_hsa043901.49578392
34Fructose and mannose metabolism_Homo sapiens_hsa000511.48310185
35Histidine metabolism_Homo sapiens_hsa003401.47019626
36Linoleic acid metabolism_Homo sapiens_hsa005911.43115286
37Antigen processing and presentation_Homo sapiens_hsa046121.40520020
38Arginine biosynthesis_Homo sapiens_hsa002201.36313222
39Leukocyte transendothelial migration_Homo sapiens_hsa046701.35581599
40Complement and coagulation cascades_Homo sapiens_hsa046101.33418741
41Regulation of actin cytoskeleton_Homo sapiens_hsa048101.32935064
42Tight junction_Homo sapiens_hsa045301.30995358
43MicroRNAs in cancer_Homo sapiens_hsa052061.30125624
44Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006011.29646940
45Rheumatoid arthritis_Homo sapiens_hsa053231.28501027
46Axon guidance_Homo sapiens_hsa043601.28397305
47Systemic lupus erythematosus_Homo sapiens_hsa053221.26725841
48Hematopoietic cell lineage_Homo sapiens_hsa046401.25031810
49Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.19680780
50Adipocytokine signaling pathway_Homo sapiens_hsa049201.17936703
51Salmonella infection_Homo sapiens_hsa051321.16096321
52Malaria_Homo sapiens_hsa051441.14621324
53Platelet activation_Homo sapiens_hsa046111.12662294
54Toxoplasmosis_Homo sapiens_hsa051451.12602493
55Lysosome_Homo sapiens_hsa041421.12258829
56Renal cell carcinoma_Homo sapiens_hsa052111.10560212
57Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005121.10270681
58Notch signaling pathway_Homo sapiens_hsa043301.09279983
59Pancreatic cancer_Homo sapiens_hsa052121.09231877
60Carbohydrate digestion and absorption_Homo sapiens_hsa049731.07329270
61Small cell lung cancer_Homo sapiens_hsa052221.05706771
62Influenza A_Homo sapiens_hsa051641.02925918
63Osteoclast differentiation_Homo sapiens_hsa043801.02660571
64Chronic myeloid leukemia_Homo sapiens_hsa052201.00603656
65Fatty acid metabolism_Homo sapiens_hsa012120.98917518
66PPAR signaling pathway_Homo sapiens_hsa033200.98857285
67Leishmaniasis_Homo sapiens_hsa051400.96432792
68Rap1 signaling pathway_Homo sapiens_hsa040150.94673178
69NF-kappa B signaling pathway_Homo sapiens_hsa040640.93079688
70Pathways in cancer_Homo sapiens_hsa052000.92589628
71Glycosaminoglycan degradation_Homo sapiens_hsa005310.92371680
72Ether lipid metabolism_Homo sapiens_hsa005650.90493540
73Prion diseases_Homo sapiens_hsa050200.90263491
74Acute myeloid leukemia_Homo sapiens_hsa052210.88637188
75Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.88503840
76Viral myocarditis_Homo sapiens_hsa054160.87855025
77Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.87342787
78Glycerolipid metabolism_Homo sapiens_hsa005610.86785055
79Pertussis_Homo sapiens_hsa051330.86686387
80Galactose metabolism_Homo sapiens_hsa000520.86477885
81B cell receptor signaling pathway_Homo sapiens_hsa046620.85554229
82Insulin resistance_Homo sapiens_hsa049310.85233260
83Fatty acid elongation_Homo sapiens_hsa000620.85040032
84Glycerophospholipid metabolism_Homo sapiens_hsa005640.84471192
85Melanogenesis_Homo sapiens_hsa049160.83588963
86PI3K-Akt signaling pathway_Homo sapiens_hsa041510.83245249
87Chemical carcinogenesis_Homo sapiens_hsa052040.82605828
88Vascular smooth muscle contraction_Homo sapiens_hsa042700.81696470
89Starch and sucrose metabolism_Homo sapiens_hsa005000.80603393
90Chemokine signaling pathway_Homo sapiens_hsa040620.80395330
91Nitrogen metabolism_Homo sapiens_hsa009100.78903039
92HTLV-I infection_Homo sapiens_hsa051660.77960730
93Gastric acid secretion_Homo sapiens_hsa049710.77838536
94Herpes simplex infection_Homo sapiens_hsa051680.77746803
95Phagosome_Homo sapiens_hsa041450.77169900
96Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010400.77148770
97Signaling pathways regulating pluripotency of stem cells_Homo sapiens_hsa045500.75962755
98Toll-like receptor signaling pathway_Homo sapiens_hsa046200.75611841
99Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.75358053
100Glutathione metabolism_Homo sapiens_hsa004800.74970200
101Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.74029904
102Fatty acid degradation_Homo sapiens_hsa000710.73887638
103Bile secretion_Homo sapiens_hsa049760.73519873
104Endocytosis_Homo sapiens_hsa041440.73094412
105Glioma_Homo sapiens_hsa052140.72669630
106Prostate cancer_Homo sapiens_hsa052150.72607069
107Hepatitis C_Homo sapiens_hsa051600.71016084
108Transcriptional misregulation in cancer_Homo sapiens_hsa052020.70361460
109Renin-angiotensin system_Homo sapiens_hsa046140.69694589
110Primary immunodeficiency_Homo sapiens_hsa053400.69230648
111MAPK signaling pathway_Homo sapiens_hsa040100.68811536
112Thyroid hormone signaling pathway_Homo sapiens_hsa049190.68768471
113Phospholipase D signaling pathway_Homo sapiens_hsa040720.68235702
114Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.68189358
115VEGF signaling pathway_Homo sapiens_hsa043700.67529949
116Drug metabolism - other enzymes_Homo sapiens_hsa009830.67272907
117Pancreatic secretion_Homo sapiens_hsa049720.67177384
118Tryptophan metabolism_Homo sapiens_hsa003800.66607004
119Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.66531653
120African trypanosomiasis_Homo sapiens_hsa051430.65979660
121Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.65893229
122RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.65021112
123Ras signaling pathway_Homo sapiens_hsa040140.64856043
124Thyroid hormone synthesis_Homo sapiens_hsa049180.64258987
125Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.63582774
126Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.62929917
127Fatty acid biosynthesis_Homo sapiens_hsa000610.62845773
128cAMP signaling pathway_Homo sapiens_hsa040240.62528524
129Colorectal cancer_Homo sapiens_hsa052100.62028378
130NOD-like receptor signaling pathway_Homo sapiens_hsa046210.61507777
131Phenylalanine metabolism_Homo sapiens_hsa003600.61084834
132Tuberculosis_Homo sapiens_hsa051520.60927429
133cGMP-PKG signaling pathway_Homo sapiens_hsa040220.60321977
134Viral carcinogenesis_Homo sapiens_hsa052030.59563735
135Retinol metabolism_Homo sapiens_hsa008300.59425991
136Estrogen signaling pathway_Homo sapiens_hsa049150.57716462
137Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.57583240
138Sphingolipid metabolism_Homo sapiens_hsa006000.57522327
139Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.55492216
140Central carbon metabolism in cancer_Homo sapiens_hsa052300.54203630
141Insulin signaling pathway_Homo sapiens_hsa049100.53466349
142Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.53403079
143Aldosterone synthesis and secretion_Homo sapiens_hsa049250.53049400
144Ovarian steroidogenesis_Homo sapiens_hsa049130.52053439
145Mineral absorption_Homo sapiens_hsa049780.51888782
146Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.51718107
147Gap junction_Homo sapiens_hsa045400.50529054
148GnRH signaling pathway_Homo sapiens_hsa049120.50131259
149Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.49946863
150Type II diabetes mellitus_Homo sapiens_hsa049300.49499676
151Pentose and glucuronate interconversions_Homo sapiens_hsa000400.48554307
152Neurotrophin signaling pathway_Homo sapiens_hsa047220.48534367
153Pentose phosphate pathway_Homo sapiens_hsa000300.47911938
154Shigellosis_Homo sapiens_hsa051310.47543600
155TNF signaling pathway_Homo sapiens_hsa046680.47501795
156Wnt signaling pathway_Homo sapiens_hsa043100.46744455
157Renin secretion_Homo sapiens_hsa049240.45439323
158Jak-STAT signaling pathway_Homo sapiens_hsa046300.44350483
1592-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.42509723
160Legionellosis_Homo sapiens_hsa051340.41330733
161Caffeine metabolism_Homo sapiens_hsa002320.41274467
162Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.39247182
163Bladder cancer_Homo sapiens_hsa052190.38958890
164Arginine and proline metabolism_Homo sapiens_hsa003300.38038473
165Steroid hormone biosynthesis_Homo sapiens_hsa001400.36244567
166Sulfur relay system_Homo sapiens_hsa041220.35269682

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