AMY2B

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: Amylases are secreted proteins that hydrolyze 1,4-alpha-glucoside bonds in oligosaccharides and polysaccharides, and thus catalyze the first step in digestion of dietary starch and glycogen. The human genome has a cluster of several amylase genes that are expressed at high levels in either salivary gland or pancreas. This gene encodes an amylase isoenzyme produced by the pancreas. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1transcytosis (GO:0045056)8.77775822
2intestinal absorption (GO:0050892)8.66897679
3COPI coating of Golgi vesicle (GO:0048205)7.58605618
4Golgi transport vesicle coating (GO:0048200)7.58605618
5cholesterol catabolic process (GO:0006707)7.32050472
6sterol catabolic process (GO:0016127)7.32050472
7cobalamin metabolic process (GO:0009235)6.96450978
8peptidyl-proline hydroxylation (GO:0019511)6.53773135
9negative regulation of digestive system process (GO:0060457)6.18123025
10activation of signaling protein activity involved in unfolded protein response (GO:0006987)5.75154530
11membrane lipid catabolic process (GO:0046466)5.69472561
12regulation of phospholipase A2 activity (GO:0032429)5.56266832
13glycolipid catabolic process (GO:0019377)5.49875851
14positive regulation of nuclease activity (GO:0032075)5.49577365
15ceramide catabolic process (GO:0046514)5.28418969
16valine metabolic process (GO:0006573)5.16641474
17protein hydroxylation (GO:0018126)5.16014398
18regulation of nuclease activity (GO:0032069)4.99932780
19endoplasmic reticulum unfolded protein response (GO:0030968)4.95203884
20cysteine metabolic process (GO:0006534)4.94856689
21protein maturation by protein folding (GO:0022417)4.81084108
22cellular response to unfolded protein (GO:0034620)4.78654897
23branched-chain amino acid catabolic process (GO:0009083)4.70415438
24response to endoplasmic reticulum stress (GO:0034976)4.69963500
25COPII vesicle coating (GO:0048208)4.69937191
26endocrine pancreas development (GO:0031018)4.63865628
27ER-nucleus signaling pathway (GO:0006984)4.59846921
28cellular response to topologically incorrect protein (GO:0035967)4.51033164
29retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)4.43992551
30branched-chain amino acid metabolic process (GO:0009081)4.36447010
31cellular modified amino acid catabolic process (GO:0042219)4.31622582
32proline biosynthetic process (GO:0006561)4.28791376
33ER overload response (GO:0006983)4.26332424
34negative regulation of cytosolic calcium ion concentration (GO:0051481)4.14224350
35intestinal epithelial cell development (GO:0060576)4.10502275
36regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:19022354.05879416
37mitochondrial calcium ion transport (GO:0006851)4.03846114
38maintenance of protein localization in organelle (GO:0072595)3.96006451
394-hydroxyproline metabolic process (GO:0019471)3.87367894
40zinc ion transport (GO:0006829)3.85812284
41L-alpha-amino acid transmembrane transport (GO:1902475)3.78112480
42signal peptide processing (GO:0006465)3.77452041
43response to unfolded protein (GO:0006986)3.75943147
44homocysteine metabolic process (GO:0050667)3.75916956
45ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)3.73488477
46membrane repolarization during cardiac muscle cell action potential (GO:0086013)3.71496333
47coenzyme catabolic process (GO:0009109)3.67995809
48steroid catabolic process (GO:0006706)3.65577709
49response to topologically incorrect protein (GO:0035966)3.59363996
50insulin-like growth factor receptor signaling pathway (GO:0048009)3.57860093
51cilium or flagellum-dependent cell motility (GO:0001539)3.55019475
52glutamine metabolic process (GO:0006541)3.53340571
53vesicle coating (GO:0006901)3.49836204
54protein N-linked glycosylation via asparagine (GO:0018279)3.47249016
55peptidyl-asparagine modification (GO:0018196)3.46817888
56cholesterol transport (GO:0030301)3.38005896
57sterol transport (GO:0015918)3.38005896
58positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:003603.36594896
59negative regulation of epidermal cell differentiation (GO:0045605)3.33629102
60sphingolipid catabolic process (GO:0030149)3.31890266
61membrane repolarization during action potential (GO:0086011)3.30292675
62digestive system process (GO:0022600)3.28979856
63Golgi organization (GO:0007030)3.27008001
64leukotriene biosynthetic process (GO:0019370)3.23497705
65protein N-linked glycosylation (GO:0006487)3.15785816
66negative regulation of cAMP-mediated signaling (GO:0043951)3.14841424
67mitochondrion distribution (GO:0048311)3.14216985
68aspartate family amino acid catabolic process (GO:0009068)3.07947486
69phosphatidylinositol acyl-chain remodeling (GO:0036149)2.99578599
70antibacterial humoral response (GO:0019731)2.97844191
71serine family amino acid biosynthetic process (GO:0009070)2.97514294
72creatine metabolic process (GO:0006600)2.94334358
73neutrophil mediated immunity (GO:0002446)2.93323542
74membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.88276817
75L-phenylalanine catabolic process (GO:0006559)2.87341002
76erythrose 4-phosphate/phosphoenolpyruvate family amino acid catabolic process (GO:1902222)2.87341002
77regulation of digestive system process (GO:0044058)2.85155280
78biotin metabolic process (GO:0006768)2.80794678
79cell redox homeostasis (GO:0045454)2.78960018
80UDP-N-acetylglucosamine metabolic process (GO:0006047)2.77167898
81proline metabolic process (GO:0006560)2.76118367
82regulation of B cell receptor signaling pathway (GO:0050855)2.73693542
83antimicrobial humoral response (GO:0019730)2.73436367
84epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)2.71636826
85pancreas development (GO:0031016)2.71423523
86myeloid leukocyte mediated immunity (GO:0002444)2.70569208
87positive regulation of heat generation (GO:0031652)2.70089925
88activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO2.68551049
89axoneme assembly (GO:0035082)2.67390828
90one-carbon metabolic process (GO:0006730)2.66171502
91establishment of protein localization to Golgi (GO:0072600)2.65385334
92erythrose 4-phosphate/phosphoenolpyruvate family amino acid metabolic process (GO:1902221)2.64600179
93L-phenylalanine metabolic process (GO:0006558)2.64600179
94columnar/cuboidal epithelial cell development (GO:0002066)2.63285609
95cellular protein catabolic process (GO:0044257)2.62286801
96negative regulation of cell killing (GO:0031342)2.62004193
97negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.62004193
98regulation of germinal center formation (GO:0002634)2.60990908
99type B pancreatic cell development (GO:0003323)2.59895503
100polarized epithelial cell differentiation (GO:0030859)2.59623258
101regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.58849902
102ER to Golgi vesicle-mediated transport (GO:0006888)2.57473190
103glycine transport (GO:0015816)2.56730291
104regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.55419876
105regulation of fever generation (GO:0031620)2.55141101
106regulation of relaxation of muscle (GO:1901077)2.54933199
107glandular epithelial cell differentiation (GO:0002067)2.54022562
108cilium movement (GO:0003341)2.53478201
109microglial cell activation (GO:0001774)2.52912473
110positive regulation of gamma-delta T cell activation (GO:0046645)2.52824478
111intra-Golgi vesicle-mediated transport (GO:0006891)2.51917709
112regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)2.51089439
113endoplasmic reticulum organization (GO:0007029)2.49029358
114negative regulation of immunoglobulin mediated immune response (GO:0002890)2.48712809
115negative regulation of B cell mediated immunity (GO:0002713)2.48712809
116behavioral response to ethanol (GO:0048149)2.48286327
117negative regulation of epidermis development (GO:0045683)2.47307176
118phosphatidylserine acyl-chain remodeling (GO:0036150)2.47268783
119activated T cell proliferation (GO:0050798)2.45219352
120positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.45006958
121regulation of gamma-delta T cell activation (GO:0046643)2.44978189
122membrane depolarization during action potential (GO:0086010)2.44859482
123fucose catabolic process (GO:0019317)2.44456523
124L-fucose metabolic process (GO:0042354)2.44456523
125L-fucose catabolic process (GO:0042355)2.44456523
126protein targeting to Golgi (GO:0000042)2.42960806
127epithelial cilium movement (GO:0003351)2.42633164
128macroautophagy (GO:0016236)2.40533609
129regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.40288034
130regulation of gamma-delta T cell differentiation (GO:0045586)2.39797637
131positive regulation of phosphoprotein phosphatase activity (GO:0032516)2.39687629
132regulation of skeletal muscle contraction (GO:0014819)2.38284522
133phosphatidylglycerol acyl-chain remodeling (GO:0036148)2.37192912
134regulation of protein glycosylation (GO:0060049)2.37100648
135negative regulation of T-helper cell differentiation (GO:0045623)2.35499974
136negative regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043371)2.35499974
137neuronal action potential propagation (GO:0019227)2.31554876
138negative regulation of CD4-positive, alpha-beta T cell activation (GO:2000515)2.29831527
139tryptophan catabolic process (GO:0006569)2.29264775
140indole-containing compound catabolic process (GO:0042436)2.29264775
141indolalkylamine catabolic process (GO:0046218)2.29264775
142retrograde transport, vesicle recycling within Golgi (GO:0000301)2.26375136
143negative regulation of adaptive immune response based on somatic recombination of immune receptors b2.25054369
144negative regulation of lymphocyte mediated immunity (GO:0002707)2.24743140
145cellular extravasation (GO:0045123)2.22806097
146neuronal action potential (GO:0019228)2.22068405
147regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.19529678
148regulation of MHC class II biosynthetic process (GO:0045346)2.18788570
149regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.18141807
150one-carbon compound transport (GO:0019755)2.16886795
151protein localization to Golgi apparatus (GO:0034067)2.16598867
152negative regulation of calcium ion-dependent exocytosis (GO:0045955)2.15493278
153regulation of triglyceride catabolic process (GO:0010896)2.13599805
154phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.13524180
155cAMP catabolic process (GO:0006198)2.12254131
156indolalkylamine metabolic process (GO:0006586)2.11238783
157positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.08927537
158protein K11-linked deubiquitination (GO:0035871)2.08268911
159negative regulation of adaptive immune response (GO:0002820)2.08167190
160interkinetic nuclear migration (GO:0022027)2.06525150
161cellular ketone body metabolic process (GO:0046950)2.05580520
162regulation of memory T cell differentiation (GO:0043380)2.05289411
163drug catabolic process (GO:0042737)2.04669720
164detection of light stimulus involved in visual perception (GO:0050908)2.04491642
165detection of light stimulus involved in sensory perception (GO:0050962)2.04491642
166reactive oxygen species biosynthetic process (GO:1903409)2.03163780
167regulation of sarcomere organization (GO:0060297)2.02667373
168antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.02102885
169detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)2.01381776
170negative regulation of protein oligomerization (GO:0032460)2.00383290
171intestinal cholesterol absorption (GO:0030299)18.9226530
172exocrine pancreas development (GO:0031017)13.3456397
173* digestion (GO:0007586)11.9362099
174protein retention in ER lumen (GO:0006621)11.4937468
175maintenance of protein localization in endoplasmic reticulum (GO:0035437)10.9468426
176behavioral response to nicotine (GO:0035095)1.99409214
177regulation of cell communication by electrical coupling (GO:0010649)1.98510878
178opioid receptor signaling pathway (GO:0038003)1.96326813
179neural tube formation (GO:0001841)1.96141992
180cyclic nucleotide catabolic process (GO:0009214)1.96083668
181negative regulation of T cell mediated immunity (GO:0002710)1.95553429
182relaxation of cardiac muscle (GO:0055119)1.94300970
183adaptation of signaling pathway (GO:0023058)1.93758423
184positive regulation of cation channel activity (GO:2001259)1.93168277
185G-protein coupled glutamate receptor signaling pathway (GO:0007216)1.92287596
186regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002923)1.91355287
187axonemal dynein complex assembly (GO:0070286)1.91229697
188positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)1.90639135
189monoubiquitinated protein deubiquitination (GO:0035520)1.89382447
190phosphatidylcholine acyl-chain remodeling (GO:0036151)1.88810049
191muscle hypertrophy (GO:0014896)1.88665204

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat6.20977862
2FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse5.27478361
3STAT6_21828071_ChIP-Seq_BEAS2B_Human4.30209704
4ESR1_17901129_ChIP-ChIP_LIVER_Mouse3.76298707
5GATA1_22025678_ChIP-Seq_K562_Human3.31033028
6SOX2_27498859_Chip-Seq_STOMACH_Mouse3.09823226
7FOXO1_23066095_ChIP-Seq_LIVER_Mouse2.77454389
8RXR_22158963_ChIP-Seq_LIVER_Mouse2.77398271
9GBX2_23144817_ChIP-Seq_PC3_Human2.65599500
10PPARA_22158963_ChIP-Seq_LIVER_Mouse2.62928799
11LXR_22158963_ChIP-Seq_LIVER_Mouse2.62504202
12GATA4_25053715_ChIP-Seq_YYC3_Human2.60911051
13ERG_21242973_ChIP-ChIP_JURKAT_Human2.53948083
14EZH2_22144423_ChIP-Seq_EOC_Human2.35604137
15GATA6_25053715_ChIP-Seq_YYC3_Human2.22631519
16ZNF652_21678463_ChIP-ChIP_ZR75-1_Human2.17560864
17ESR1_21235772_ChIP-Seq_MCF-7_Human2.03515708
18CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.92812533
19DROSHA_22980978_ChIP-Seq_HELA_Human1.89736868
20STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.86992626
21VDR_22108803_ChIP-Seq_LS180_Human1.85490916
22IRF8_22096565_ChIP-ChIP_GC-B_Human1.85341845
23GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.83438261
24IGF1R_20145208_ChIP-Seq_DFB_Human1.83320200
25ZFP57_27257070_Chip-Seq_ESCs_Mouse1.80902065
26* POU3F2_20337985_ChIP-ChIP_501MEL_Human1.80410297
27GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.80282307
28FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.78505236
29FLI1_27457419_Chip-Seq_LIVER_Mouse1.76294540
30FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human1.72811716
31PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.72740717
32TAF15_26573619_Chip-Seq_HEK293_Human1.68793305
33ESR2_21235772_ChIP-Seq_MCF-7_Human1.68507992
34STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.67841333
35PPARD_23208498_ChIP-Seq_MDA-MB-231_Human1.65959138
36TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.62255778
37CLOCK_20551151_ChIP-Seq_293T_Human1.59733695
38FOXA2_19822575_ChIP-Seq_HepG2_Human1.59451385
39CDX2_19796622_ChIP-Seq_MESCs_Mouse1.56506993
40AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.55732396
41CREB1_26743006_Chip-Seq_LNCaP_Human1.54528876
42* CEBPD_23245923_ChIP-Seq_MEFs_Mouse1.54322095
43PAX6_23342162_ChIP-ChIP_BETA-FORBRAIN-LENS_Mouse1.54285067
44PCGF2_27294783_Chip-Seq_ESCs_Mouse1.54254453
45ER_23166858_ChIP-Seq_MCF-7_Human1.52433553
46FOXO3_23340844_ChIP-Seq_DLD1_Human1.50290447
47CHD1_26751641_Chip-Seq_LNCaP_Human1.49455870
48TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.49101845
49AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.46441617
50CTBP2_25329375_ChIP-Seq_LNCAP_Human1.46169537
51NR4A2_19515692_ChIP-ChIP_MN9D_Mouse1.45939985
52IRF1_21803131_ChIP-Seq_MONOCYTES_Human1.45469666
53SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.45005195
54BCAT_22108803_ChIP-Seq_LS180_Human1.43347285
55CREB1_26743006_Chip-Seq_LNCaP-abl_Human1.42175693
56FOXA1_25552417_ChIP-Seq_VCAP_Human1.40982741
57P300_19829295_ChIP-Seq_ESCs_Human1.40332270
58RUNX_20019798_ChIP-Seq_JUKART_Human1.40023613
59STAT3_23295773_ChIP-Seq_U87_Human1.38290676
60PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.38111509
61SMAD4_21799915_ChIP-Seq_A2780_Human1.37982023
62E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.36830278
63BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.36656356
64SMAD_19615063_ChIP-ChIP_OVARY_Human1.35584276
65SUZ12_27294783_Chip-Seq_NPCs_Mouse1.34946022
66CTBP1_25329375_ChIP-Seq_LNCAP_Human1.32891637
67PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.32268166
68TCF4_23295773_ChIP-Seq_U87_Human1.31138613
69* REST_21632747_ChIP-Seq_MESCs_Mouse1.29392866
70EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.26863704
71ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.26616372
72TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.26051080
73PCGF2_27294783_Chip-Seq_NPCs_Mouse1.25606069
74ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.25240110
75SOX2_20726797_ChIP-Seq_SW620_Human1.24520037
76PRDM14_20953172_ChIP-Seq_ESCs_Human1.23671609
77PIAS1_25552417_ChIP-Seq_VCAP_Human1.23507432
78RUNX1_27514584_Chip-Seq_MCF-7_Human1.23324268
79BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.23299926
80CBP_20019798_ChIP-Seq_JUKART_Human1.23280923
81IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.23280923
82MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.23276192
83SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.23119052
84NR3C1_21868756_ChIP-Seq_MCF10A_Human1.22656220
85TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.22401084
86POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.22401084
87KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.22309845
88UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.21386277
89KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.20924576
90EZH2_27294783_Chip-Seq_NPCs_Mouse1.20006207
91NFE2_27457419_Chip-Seq_LIVER_Mouse1.19733120
92LXR_22292898_ChIP-Seq_THP-1_Human1.19160845
93RARG_19884340_ChIP-ChIP_MEFs_Mouse1.19036190
94HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.17878866
95LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.17619225
96CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.17456670
97FOXA1_26743006_Chip-Seq_LNCaP-abl_Human1.16889326
98FOXP2_23625967_ChIP-Seq_PFSK-1_AND_SK-N-MC_Human1.16644395
99ZNF217_24962896_ChIP-Seq_MCF-7_Human1.16626954
100AR_25329375_ChIP-Seq_VCAP_Human1.16311634
101BP1_19119308_ChIP-ChIP_Hs578T_Human1.16202620
102FOXH1_21741376_ChIP-Seq_ESCs_Human1.15279696
103CDX2_20551321_ChIP-Seq_CACO-2_Human1.15066573
104TBX20_22328084_ChIP-Seq_HEART_Mouse1.15036003
105TBX20_22080862_ChIP-Seq_HEART_Mouse1.15036003
106TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.14372810
107TCF3/E2A_22897851_ChIP-Seq_JUKARTE6-1_Human1.12455800
108SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.11602381
109VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.11382901
110NANOG_19829295_ChIP-Seq_ESCs_Human1.10827566
111SOX2_19829295_ChIP-Seq_ESCs_Human1.10827566
112FLI1_21867929_ChIP-Seq_TH2_Mouse1.10636772
113P63_26484246_Chip-Seq_KERATINOCYTES_Human1.09602911
114VDR_24787735_ChIP-Seq_THP-1_Human1.08677795
115ERG_20517297_ChIP-Seq_VCAP_Human1.08381204
116GATA3_24758297_ChIP-Seq_MCF-7_Human1.07585529
117ATF3_27146783_Chip-Seq_COLON_Human1.07222848
118FUS_26573619_Chip-Seq_HEK293_Human1.07053817
119GATA1_19941826_ChIP-Seq_K562_Human1.06946560
120TP63_22573176_ChIP-Seq_HFKS_Human1.06940997
121IRF8_21731497_ChIP-ChIP_J774_Mouse1.06576154
122EGR1_19032775_ChIP-ChIP_M12_Human1.06552363
123NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.06243415
124ZNF274_21170338_ChIP-Seq_K562_Hela1.05463126
125SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.05429608
126PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.05197806
127ESET_19884257_ChIP-Seq_ESCs_Mouse1.04805216
128NANOG_18555785_Chip-Seq_ESCs_Mouse1.04770169
129SMAD3_21741376_ChIP-Seq_EPCs_Human1.04741735
130NANOG_21062744_ChIP-ChIP_HESCs_Human1.04733699
131RXR_22108803_ChIP-Seq_LS180_Human1.04711286
132RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.02874180
133RUNX2_22187159_ChIP-Seq_PCA_Human1.02767670
134OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.02326286
135TOP2B_26459242_ChIP-Seq_MCF-7_Human1.02270141
136TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.01131585
137DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.01104014
138P53_22387025_ChIP-Seq_ESCs_Mouse1.00203796
139SA1_27219007_Chip-Seq_ERYTHROID_Human1.00069627
140EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse0.99900222
141SMRT_27268052_Chip-Seq_Bcells_Human0.99519841
142AR_21572438_ChIP-Seq_LNCaP_Human0.99488471
143KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.99250106
144CRX_20693478_ChIP-Seq_RETINA_Mouse0.99134680
145KDM2B_26808549_Chip-Seq_K562_Human0.98715090
146SOX2_21211035_ChIP-Seq_LN229_Gbm0.98553255
147RACK7_27058665_Chip-Seq_MCF-7_Human0.98089753
148SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.97965494
149CDX2_22108803_ChIP-Seq_LS180_Human0.97516250
150TCF4_22108803_ChIP-Seq_LS180_Human0.97289011
151NFIB_24661679_ChIP-Seq_LUNG_Mouse0.96936992
152OCT4_21477851_ChIP-Seq_ESCs_Mouse0.96931076
153SMAD4_21741376_ChIP-Seq_EPCs_Human0.96905994
154SUZ12_20075857_ChIP-Seq_MESCs_Mouse0.96859535
155KLF5_20875108_ChIP-Seq_MESCs_Mouse0.96782554
156SUZ12_18692474_ChIP-Seq_MESCs_Mouse0.96744899
157E2F1_18555785_Chip-Seq_ESCs_Mouse0.96678181
158ETV2_25802403_ChIP-Seq_MESCs_Mouse0.96629935
159KLF5_18264089_ChIP-ChIP_MESCs_Mouse0.96187512
160KLF4_18264089_ChIP-ChIP_MESCs_Mouse0.96187512
161KLF2_18264089_ChIP-ChIP_MESCs_Mouse0.96187512
162P68_20966046_ChIP-Seq_HELA_Human0.94829660
163KDM2B_26808549_Chip-Seq_REH_Human0.93713728
164PPAR_26484153_Chip-Seq_NCI-H1993_Human0.92976188
165FOXA1_21572438_ChIP-Seq_LNCaP_Human0.92906303
166PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.92229034
167ETV1_20927104_ChIP-Seq_GIST48_Human0.92201285
168SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.91776345
169TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.91649345
170NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse0.91384979
171GATA3_20176728_ChIP-ChIP_TSCs_Mouse0.90859568
172TBL1_22424771_ChIP-Seq_293T_Human0.90744793
173TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.90527113
174TP53_16413492_ChIP-PET_HCT116_Human0.90169390
175TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse0.90001201
176TCF3_18467660_ChIP-ChIP_MESCs_Mouse0.89856113
177DNAJC2_21179169_ChIP-ChIP_NT2_Human0.89561684
178JARID2_20064375_ChIP-Seq_MESCs_Mouse0.89261572
179ESR1_20079471_ChIP-ChIP_T-47D_Human0.88867837
180CEBPA_23403033_ChIP-Seq_LIVER_Mouse0.88389332
181FOXA1_26769127_Chip-Seq_PDAC-Cell_line_Human0.88213801
182PKCTHETA_26484144_Chip-Seq_BREAST_Human0.86680469
183KLF4_19829295_ChIP-Seq_ESCs_Human0.86671528
184TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse0.85253096
185PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.83873508
186KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.82411425
187BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.81159210
188ETS1_21867929_ChIP-Seq_TH2_Mouse0.80698511
189TFAP2A_17053090_ChIP-ChIP_MCF-7_Human0.80653024
190SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.80143879
191OLIG2_26023283_ChIP-Seq_AINV15_Mouse0.80105568
192ERA_21632823_ChIP-Seq_H3396_Human0.79421832
193KLF5_25053715_ChIP-Seq_YYC3_Human0.78957581
194CTCF_27219007_Chip-Seq_Bcells_Human0.77864840
195ELK4_26923725_Chip-Seq_MESODERM_Mouse0.77828986
196WT1_25993318_ChIP-Seq_PODOCYTE_Human0.76008834
197SRY_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.75816587

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005083_abnormal_biliary_tract9.18128424
2MP0001666_abnormal_nutrient_absorption8.68396272
3MP0005365_abnormal_bile_salt6.34372199
4MP0005220_abnormal_exocrine_pancreas5.53143583
5MP0003868_abnormal_feces_composition5.43569758
6MP0005084_abnormal_gallbladder_morpholo4.72268892
7MP0005085_abnormal_gallbladder_physiolo3.61277554
8MP0002693_abnormal_pancreas_physiology3.01773272
9MP0003646_muscle_fatigue2.72866395
10MP0003959_abnormal_lean_body2.69763069
11MP0001501_abnormal_sleep_pattern2.57424943
12MP0001944_abnormal_pancreas_morphology2.36444630
13MP0002138_abnormal_hepatobiliary_system2.26249908
14MP0004264_abnormal_extraembryonic_tissu2.15551229
15MP0002139_abnormal_hepatobiliary_system2.15293875
16MP0001664_abnormal_digestion2.11830281
17MP0002837_dystrophic_cardiac_calcinosis2.05592115
18MP0003724_increased_susceptibility_to2.04681843
19MP0003705_abnormal_hypodermis_morpholog2.03293599
20MP0003283_abnormal_digestive_organ1.87082580
21MP0008004_abnormal_stomach_pH1.83813700
22MP0003252_abnormal_bile_duct1.82751117
23MP0004145_abnormal_muscle_electrophysio1.80462495
24MP0003880_abnormal_central_pattern1.73455626
25MP0010234_abnormal_vibrissa_follicle1.70646068
26MP0005448_abnormal_energy_balance1.70637143
27MP0009745_abnormal_behavioral_response1.65531154
28MP0005670_abnormal_white_adipose1.58222624
29MP0002272_abnormal_nervous_system1.52182528
30MP0001486_abnormal_startle_reflex1.51980069
31MP0004484_altered_response_of1.51307294
32MP0001968_abnormal_touch/_nociception1.47611575
33MP0001986_abnormal_taste_sensitivity1.45993240
34MP0002928_abnormal_bile_duct1.43522713
35MP0004885_abnormal_endolymph1.42634332
36MP0005551_abnormal_eye_electrophysiolog1.42568852
37MP0003879_abnormal_hair_cell1.41474294
38MP0002064_seizures1.39266502
39MP0004859_abnormal_synaptic_plasticity1.39003130
40MP0004036_abnormal_muscle_relaxation1.37196945
41MP0009780_abnormal_chondrocyte_physiolo1.36250797
42MP0005646_abnormal_pituitary_gland1.32119984
43MP0000569_abnormal_digit_pigmentation1.29917259
44MP0002078_abnormal_glucose_homeostasis1.27312606
45MP0003635_abnormal_synaptic_transmissio1.26179910
46MP0004233_abnormal_muscle_weight1.26001427
47MP0002118_abnormal_lipid_homeostasis1.24966671
48MP0003633_abnormal_nervous_system1.24485692
49MP0003787_abnormal_imprinting1.23245579
50MP0009046_muscle_twitch1.22630558
51MP0008961_abnormal_basal_metabolism1.21492118
52MP0001835_abnormal_antigen_presentation1.20775565
53MP0005167_abnormal_blood-brain_barrier1.18194739
54MP0008872_abnormal_physiological_respon1.15665526
55MP0005310_abnormal_salivary_gland1.14762496
56MP0003300_gastrointestinal_ulcer1.13416777
57MP0005387_immune_system_phenotype1.13311058
58MP0001790_abnormal_immune_system1.13311058
59MP0006054_spinal_hemorrhage1.13104481
60MP0002877_abnormal_melanocyte_morpholog1.11823521
61MP0001800_abnormal_humoral_immune1.11017216
62MP0000003_abnormal_adipose_tissue1.09158110
63MP0001970_abnormal_pain_threshold1.08812177
64MP0002063_abnormal_learning/memory/cond1.08076189
65MP0002132_abnormal_respiratory_system1.07094471
66MP0004142_abnormal_muscle_tone1.06672758
67MP0006082_CNS_inflammation1.03760535
68MP0009764_decreased_sensitivity_to1.03755869
69MP0002572_abnormal_emotion/affect_behav1.03510832
70MP0002638_abnormal_pupillary_reflex1.01907496
71MP0004215_abnormal_myocardial_fiber1.01077845
72MP0002733_abnormal_thermal_nociception0.99038045
73MP0005165_increased_susceptibility_to0.99006361
74MP0002735_abnormal_chemical_nociception0.98987677
75MP0000470_abnormal_stomach_morphology0.98476295
76MP0002971_abnormal_brown_adipose0.95209692
77MP0003690_abnormal_glial_cell0.94725358
78MP0008789_abnormal_olfactory_epithelium0.94534982
79MP0002127_abnormal_cardiovascular_syste0.94156778
80MP0003638_abnormal_response/metabolism_0.94007291
81MP0000230_abnormal_systemic_arterial0.93856935
82MP0004084_abnormal_cardiac_muscle0.93539627
83MP0001502_abnormal_circadian_rhythm0.93160689
84MP0006276_abnormal_autonomic_nervous0.92094017
85MP0004924_abnormal_behavior0.91628160
86MP0005386_behavior/neurological_phenoty0.91628160
87MP0002067_abnormal_sensory_capabilities0.91397467
88MP0000613_abnormal_salivary_gland0.91201192
89MP0004043_abnormal_pH_regulation0.90532663
90MP0001984_abnormal_olfaction0.90491194
91MP0002419_abnormal_innate_immunity0.89993903
92MP0008569_lethality_at_weaning0.89700085
93MP0003953_abnormal_hormone_level0.88904039
94MP0003045_fibrosis0.88632649
95MP0005332_abnormal_amino_acid0.88006537
96MP0001440_abnormal_grooming_behavior0.87949507
97MP0002229_neurodegeneration0.87707336
98MP0005671_abnormal_response_to0.86092987
99MP0008875_abnormal_xenobiotic_pharmacok0.85836521
100MP0002723_abnormal_immune_serum0.85450641
101MP0004270_analgesia0.85142419
102MP0002102_abnormal_ear_morphology0.83111291
103MP0002420_abnormal_adaptive_immunity0.83107591
104MP0004185_abnormal_adipocyte_glucose0.83046193
105MP0003763_abnormal_thymus_physiology0.82243401
106MP0005000_abnormal_immune_tolerance0.82078551
107MP0005535_abnormal_body_temperature0.81897830
108MP0002822_catalepsy0.81682594
109MP0003866_abnormal_defecation0.80879189
110MP0001819_abnormal_immune_cell0.80874170
111MP0002896_abnormal_bone_mineralization0.80619121
112MP0005620_abnormal_muscle_contractility0.80569234
113MP0000749_muscle_degeneration0.80154123
114MP0009643_abnormal_urine_homeostasis0.79458798
115MP0005408_hypopigmentation0.78661761
116MP0002332_abnormal_exercise_endurance0.77701268
117MP0003195_calcinosis0.77460839
118MP0005394_taste/olfaction_phenotype0.76547267
119MP0005499_abnormal_olfactory_system0.76547267
120MP0009384_cardiac_valve_regurgitation0.76532797
121MP0002909_abnormal_adrenal_gland0.72720348
122MP0000013_abnormal_adipose_tissue0.66639257
123MP0002277_abnormal_respiratory_mucosa0.63379614
124MP0008438_abnormal_cutaneous_collagen0.62010584
125MP0005375_adipose_tissue_phenotype0.61855736
126MP0005058_abnormal_lysosome_morphology0.61320437
127MP0002234_abnormal_pharynx_morphology0.60153951
128MP0005452_abnormal_adipose_tissue0.57339977
129MP0005187_abnormal_penis_morphology0.56050754
130MP0000598_abnormal_liver_morphology0.55879612
131MP0003183_abnormal_peptide_metabolism0.54763460
132MP0010329_abnormal_lipoprotein_level0.53922012
133MP0003806_abnormal_nucleotide_metabolis0.52927724
134MP0003122_maternal_imprinting0.52448885
135MP0009703_decreased_birth_body0.52351940
136MP0000609_abnormal_liver_physiology0.50027975
137MP0001731_abnormal_postnatal_growth0.46048383
138MP0010386_abnormal_urinary_bladder0.44817525
139MP0000490_abnormal_crypts_of0.44264699
140MP0002876_abnormal_thyroid_physiology0.42686122
141MP0003119_abnormal_digestive_system0.40709389
142MP0002060_abnormal_skin_morphology0.38821066
143MP0003172_abnormal_lysosome_physiology0.37107261
144MP0005334_abnormal_fat_pad0.36970318
145MP0003943_abnormal_hepatobiliary_system0.36440799
146MP0000678_abnormal_parathyroid_gland0.36027793
147MP0001765_abnormal_ion_homeostasis0.35502855
148MP0002069_abnormal_eating/drinking_beha0.34635905
149MP0009672_abnormal_birth_weight0.34432778
150MP0003795_abnormal_bone_structure0.34073963
151MP0004272_abnormal_basement_membrane0.33555010
152MP0000462_abnormal_digestive_system0.32734948
153MP0010678_abnormal_skin_adnexa0.32698546
154MP0006036_abnormal_mitochondrial_physio0.32663444
155MP0005381_digestive/alimentary_phenotyp0.31413824
156MP0002098_abnormal_vibrissa_morphology0.31400774
157MP0009642_abnormal_blood_homeostasis0.31164085
158MP0000371_diluted_coat_color0.30145164
159MP0001270_distended_abdomen0.29416173
160MP0001663_abnormal_digestive_system0.29355503
161MP0005379_endocrine/exocrine_gland_phen0.29339249
162MP0002796_impaired_skin_barrier0.28270493
163MP0005319_abnormal_enzyme/_coenzyme0.27974793
164MP0000377_abnormal_hair_follicle0.27688253
165MP0001756_abnormal_urination0.27117140
166MP0001849_ear_inflammation0.26518936
167MP0000579_abnormal_nail_morphology0.26418745
168MP0000367_abnormal_coat/_hair0.25061444
169MP0001485_abnormal_pinna_reflex0.24987296
170MP0004130_abnormal_muscle_cell0.24953950
171MP0003329_amyloid_beta_deposits0.23725273
172MP0001873_stomach_inflammation0.23066885

Predicted human phenotypes

RankGene SetZ-score
1Steatorrhea (HP:0002570)7.78267042
2Fat malabsorption (HP:0002630)6.85548990
3Gout (HP:0001997)6.47793548
4Abnormal pancreas size (HP:0012094)5.65459663
5Exocrine pancreatic insufficiency (HP:0001738)5.37778712
6Abnormality of the pancreatic islet cells (HP:0006476)4.79714955
7Abnormality of endocrine pancreas physiology (HP:0012093)4.79714955
8Abnormality of the intrinsic pathway (HP:0010989)4.16424157
9Hyperinsulinemic hypoglycemia (HP:0000825)4.14271950
10Ketoacidosis (HP:0001993)4.11561978
11Hypoglycemic seizures (HP:0002173)3.98838174
12Hypoglycemic coma (HP:0001325)3.87983073
13Ketosis (HP:0001946)3.55889262
14Late onset (HP:0003584)3.49436081
15Pancreatitis (HP:0001733)3.49023564
16Ventricular fibrillation (HP:0001663)3.46736447
17Dynein arm defect of respiratory motile cilia (HP:0012255)3.38167798
18Absent/shortened dynein arms (HP:0200106)3.38167798
19Hypoplasia of the pons (HP:0012110)3.35956883
20Tubulointerstitial fibrosis (HP:0005576)3.34500528
21Febrile seizures (HP:0002373)3.33604776
22Type I diabetes mellitus (HP:0100651)3.28699445
23Decreased subcutaneous fat (HP:0001002)3.26991938
24Hyperglycemia (HP:0003074)3.23081774
25Tubulointerstitial nephritis (HP:0001970)3.16589225
26Hyperventilation (HP:0002883)3.13347673
27Abnormality of aromatic amino acid family metabolism (HP:0004338)3.09944308
28Abnormality of subcutaneous fat tissue (HP:0001001)3.08813953
29Carpal bone hypoplasia (HP:0001498)3.07961348
30Abnormality of the pons (HP:0007361)3.06197953
31Symptomatic seizures (HP:0011145)3.06187119
32Gaze-evoked nystagmus (HP:0000640)3.04396109
33Myositis (HP:0100614)3.03993330
34Elevated circulating parathyroid hormone (PTH) level (HP:0003165)3.01680299
35Short chin (HP:0000331)3.01450681
36Premature skin wrinkling (HP:0100678)2.99630444
37Hypoproteinemia (HP:0003075)2.98900317
38Abnormality of the common coagulation pathway (HP:0010990)2.96716380
39Cortical dysplasia (HP:0002539)2.96413141
40Hyperuricemia (HP:0002149)2.91175054
41Increased purine levels (HP:0004368)2.91175054
42Stomatitis (HP:0010280)2.86975482
43Conjugated hyperbilirubinemia (HP:0002908)2.84809536
44Insulin-resistant diabetes mellitus (HP:0000831)2.83942562
45Abnormal tarsal ossification (HP:0008369)2.82324653
46Abnormal ciliary motility (HP:0012262)2.80454679
47Optic neuritis (HP:0100653)2.78872985
48Retrobulbar optic neuritis (HP:0100654)2.78872985
49Focal motor seizures (HP:0011153)2.72347533
50Progressive cerebellar ataxia (HP:0002073)2.69756485
51Ankyloglossia (HP:0010296)2.68235163
52Large for gestational age (HP:0001520)2.67821683
53Pancreatic islet-cell hyperplasia (HP:0004510)2.66472337
54Small epiphyses (HP:0010585)2.63893014
55Broad-based gait (HP:0002136)2.59487857
56Orchitis (HP:0100796)2.58556188
57Genetic anticipation (HP:0003743)2.57861599
58Abnormal respiratory epithelium morphology (HP:0012253)2.56836232
59Abnormal respiratory motile cilium morphology (HP:0005938)2.56836232
60Maternal diabetes (HP:0009800)2.56734552
61Congenital stationary night blindness (HP:0007642)2.56043265
62Congenital sensorineural hearing impairment (HP:0008527)2.52234809
63Medial flaring of the eyebrow (HP:0010747)2.51605893
64Absent speech (HP:0001344)2.51485863
65Hyperglycinemia (HP:0002154)2.50674068
66Unilateral renal agenesis (HP:0000122)2.49200985
67Thyroid-stimulating hormone excess (HP:0002925)2.47603011
68Congenital glaucoma (HP:0001087)2.45403741
69Pancreatic cysts (HP:0001737)2.40098104
70Muscle hypertrophy of the lower extremities (HP:0008968)2.37945159
71Long foot (HP:0001833)2.35891657
72Hypoplasia of the odontoid process (HP:0003311)2.35436504
73Abnormal rod and cone electroretinograms (HP:0008323)2.33913740
74Abnormal respiratory motile cilium physiology (HP:0012261)2.33579349
75Exercise-induced myalgia (HP:0003738)2.32354789
76Abnormality of the renal medulla (HP:0100957)2.31404764
77Molar tooth sign on MRI (HP:0002419)2.29919568
78Abnormality of midbrain morphology (HP:0002418)2.29919568
79Focal seizures (HP:0007359)2.29555465
80Abnormality of purine metabolism (HP:0004352)2.29489727
81Limb hypertonia (HP:0002509)2.29137509
82Dysostosis multiplex (HP:0000943)2.28236769
83Elevated erythrocyte sedimentation rate (HP:0003565)2.28196196
84Calf muscle hypertrophy (HP:0008981)2.27186687
85Acute hepatic failure (HP:0006554)2.27060400
86Prolonged QT interval (HP:0001657)2.24978304
87Severe short stature (HP:0003510)2.23672699
88Nephronophthisis (HP:0000090)2.23491649
89Bundle branch block (HP:0011710)2.21328405
90Esophageal varix (HP:0002040)2.21301347
91Right ventricular cardiomyopathy (HP:0011663)2.21247734
92Insulin resistance (HP:0000855)2.21235390
93Attenuation of retinal blood vessels (HP:0007843)2.21220407
94Abnormal foot bone ossification (HP:0010675)2.19977644
95Hyperglycinuria (HP:0003108)2.16422630
96Abnormality of sulfur amino acid metabolism (HP:0004339)2.14774131
97Muscle fiber inclusion bodies (HP:0100299)2.14096533
98Decreased circulating renin level (HP:0003351)2.12702502
99Polydipsia (HP:0001959)2.11721254
100Abnormal drinking behavior (HP:0030082)2.11721254
101Enlarged penis (HP:0000040)2.11218483
102Protruding tongue (HP:0010808)2.11160508
103Metaphyseal dysplasia (HP:0100255)2.11152684
104Keratoconjunctivitis (HP:0001096)2.10095334
105Mucopolysacchariduria (HP:0008155)2.08617853
106Urinary glycosaminoglycan excretion (HP:0003541)2.08617853
107Joint stiffness (HP:0001387)2.06084778
108Muscle fiber splitting (HP:0003555)2.05299506
109Metabolic alkalosis (HP:0200114)2.05279221
110Gait imbalance (HP:0002141)2.04966581
111Barrel-shaped chest (HP:0001552)2.04660515
112Pancreatic fibrosis (HP:0100732)2.04235098
113Hypotension (HP:0002615)2.02876850
114Epiphyseal dysplasia (HP:0002656)2.02705723
115Widely spaced teeth (HP:0000687)2.02654390
116Hyperkalemia (HP:0002153)2.01608333
117Cortical visual impairment (HP:0100704)2.00981513
118True hermaphroditism (HP:0010459)2.00024746
119Type II lissencephaly (HP:0007260)1.99551480
120Intrahepatic cholestasis (HP:0001406)1.98902078
121Cone-shaped epiphyses of the phalanges of the hand (HP:0010230)1.98486634
122Fatigue (HP:0012378)1.98469864
123Abolished electroretinogram (ERG) (HP:0000550)1.98301807
124Hypsarrhythmia (HP:0002521)1.97878531
125Abnormality of the renal cortex (HP:0011035)1.97695230
126Abnormal EKG (HP:0003115)1.96924855
127Flattened epiphyses (HP:0003071)1.96631033
128Tubular atrophy (HP:0000092)1.96441991
129Papilledema (HP:0001085)1.96336255
130Abnormal delayed hypersensitivity skin test (HP:0002963)1.94983955
131Keratoconjunctivitis sicca (HP:0001097)1.94775996
132Abnormality of macular pigmentation (HP:0008002)1.93531666
133Hypokalemic alkalosis (HP:0001949)1.93512289
134Macroorchidism (HP:0000053)1.93317600
135Abnormality of the pleura (HP:0002103)1.92736767
136Respiratory insufficiency due to defective ciliary clearance (HP:0200073)1.92683002
137Chronic hepatic failure (HP:0100626)1.92605977
138Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)1.91935497
139Abnormality of glycine metabolism (HP:0010895)1.90356419
140Abnormality of serine family amino acid metabolism (HP:0010894)1.90356419
141Stomach cancer (HP:0012126)1.90331845
142Bronchiectasis (HP:0002110)1.90104102
143EEG with generalized epileptiform discharges (HP:0011198)1.89198091
144Atonic seizures (HP:0010819)1.89166366
145Decreased central vision (HP:0007663)1.88773670
146Agitation (HP:0000713)1.88046157
147Aplasia/Hypoplasia involving the carpal bones (HP:0006502)1.88030258
148Recurrent gram-negative bacterial infections (HP:0005420)1.88007317
149Polyuria (HP:0000103)1.87869040
150Clumsiness (HP:0002312)1.87669624
151Myocardial infarction (HP:0001658)1.87428969
152Abnormality of oral frenula (HP:0000190)1.86743215
153Dialeptic seizures (HP:0011146)1.86653251
154Congenital primary aphakia (HP:0007707)1.86429497
155Potter facies (HP:0002009)1.86370146
156Facial shape deformation (HP:0011334)1.86370146
157Nemaline bodies (HP:0003798)1.85811916
158Abnormality of the odontoid process (HP:0003310)1.85432533
159Tubulointerstitial abnormality (HP:0001969)1.85404957
160Inability to walk (HP:0002540)1.84513998
161Abnormal number of erythroid precursors (HP:0012131)1.84006618
162Rectal prolapse (HP:0002035)1.83641769
163Abdominal distention (HP:0003270)1.83356046
164Abnormality of cells of the erythroid lineage (HP:0012130)1.82386327
165Abnormality of mucopolysaccharide metabolism (HP:0011020)1.80833140
166Abnormality of polysaccharide metabolism (HP:0011012)1.80833140
167Abnormality of glycosaminoglycan metabolism (HP:0004371)1.80833140
168Recurrent bacterial skin infections (HP:0005406)1.80746752
169Syncope (HP:0001279)1.80431261
170Hemoptysis (HP:0002105)1.79624317
171Epileptic encephalopathy (HP:0200134)1.79388394
172Renal salt wasting (HP:0000127)1.79229103
173Pectus carinatum (HP:0000768)1.79216059
174Epileptiform EEG discharges (HP:0011182)1.78929115
175Pigmentary retinal degeneration (HP:0001146)1.76948182
176Abnormality of chloride homeostasis (HP:0011422)1.75491878
177Cystic liver disease (HP:0006706)1.75448466
178Rhinitis (HP:0012384)1.73675611
179Nephrogenic diabetes insipidus (HP:0009806)1.73529544
180Left ventricular hypertrophy (HP:0001712)1.69650992
181Recurrent abscess formation (HP:0002722)1.69510265
182Abnormality of binocular vision (HP:0011514)1.68965200

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BCKDK6.91633881
2EIF2AK34.54378866
3TRIB34.05553732
4ERN13.97156384
5MAP2K23.94482883
6TAOK33.79445096
7INSRR3.75836619
8FRK3.43278097
9PKN23.29328127
10OBSCN2.85240151
11IRAK32.58637013
12ADRBK22.43180088
13PINK12.08680048
14LATS11.95583260
15TNK21.82491156
16RIPK41.79990732
17WNK41.77443437
18TXK1.73803985
19MAP2K11.68175510
20MAP3K21.66275351
21ZAP701.66086628
22PHKG11.64397492
23PHKG21.64397492
24FES1.57603866
25PASK1.52813595
26EPHA41.51007815
27PTK61.50682721
28MAP4K11.50629294
29SCYL21.47110927
30ACVR1B1.41544935
31CCNB11.40422022
32GRK11.35008314
33MAPK131.34757055
34MAPK151.33775052
35PDGFRB1.33151703
36DYRK1A1.31721275
37PAK21.27731038
38TEC1.27036856
39SIK11.27015923
40FLT31.26150286
41SGK21.25420954
42BLK1.24816788
43OXSR11.20534463
44SYK1.18390708
45MAPKAPK31.16017877
46IRAK21.14407596
47RET1.11162706
48CASK1.10614921
49MAPK121.10003307
50PDGFRA1.09894783
51KIT1.08590590
52HIPK21.07586039
53CAMKK11.07227065
54EEF2K1.05792334
55ITK1.03303940
56CAMK11.01718715
57BMPR1B1.01660646
58PRKD31.01583455
59CDK191.01225855
60LMTK21.00607955
61MAP3K10.95981415
62IKBKE0.95455319
63STK110.93966097
64MARK10.93168341
65PIK3CA0.92575814
66NLK0.91369472
67MAP4K20.91047671
68PRKCE0.85989757
69CSK0.85501895
70CAMKK20.85485520
71PRKCH0.85163949
72WNK30.84812855
73PRKAA20.84323759
74TYK20.83847608
75HCK0.82913401
76PTK2B0.81862222
77BTK0.81818955
78PRKCQ0.81377991
79SGK4940.81012911
80SGK2230.81012911
81TRPM70.77557060
82ADRBK10.77123037
83LRRK20.76970301
84MTOR0.76840522
85SIK20.76371691
86CAMK40.76344804
87DYRK1B0.75852341
88MAPK70.75559597
89SGK30.75439105
90IRAK40.71029938
91IRAK10.70851379
92STK380.70374354
93TBK10.69685709
94RIPK10.69195898
95IKBKB0.69097673
96NTRK10.68314387
97SGK10.68291882
98LCK0.67410758
99TNIK0.64180947
100PTK20.62969401
101KSR20.62636592
102MARK20.62491192
103CAMK2A0.61139708
104STK390.60986941
105MARK30.60817538
106LYN0.60123824
107FGFR40.59318306
108PDK20.58921714
109PRKCI0.58834644
110RPS6KB20.58619121
111MET0.58311883
112BMPR20.55893273
113FER0.55517784
114JAK20.54982236
115PRKCG0.54907495
116AKT30.53831087
117PIK3CG0.53246713
118DAPK20.53238988
119PRKG10.52733204
120PDPK10.52594817
121NTRK20.51156316
122RPS6KB10.49343609
123GRK50.49178022
124PRKACA0.49122890
125WNK10.49067836
126PRKCZ0.48687550
127FGFR30.48665863
128TGFBR20.48413525
129EPHB10.48208254
130MAP3K70.46488906
131UHMK10.45109524
132PRKD10.43554266
133EPHA30.42900049
134PKN10.42371008
135PRKD20.40953042
136NME10.40739978
137FGFR20.39129863
138PDK10.38650789
139NEK60.38330526
140NTRK30.37843463
141CDC42BPA0.37448437
142IGF1R0.33132369
143CAMK1D0.28525156
144MAPK30.27012182
145DDR20.26987107
146CSNK1A1L0.25747213
147ABL10.25595610
148ILK0.23530605
149CAMK1G0.23329606
150PRKAA10.23080703
151CSNK1G20.20912682
152PRKACB0.20749133
153MAPK10.20601909
154CSNK1E0.20453326
155GSK3A0.20050399
156NUAK10.19205729
157BRSK20.18182070
158AKT10.18179713
159MAP2K40.18130370
160MAP3K90.18064740
161PAK30.17662998
162JAK10.17586761
163MAP2K60.17498430
164MAP3K40.17335270
165CSNK1A10.17247401
166EGFR0.17131826
167RPS6KA30.16912419
168RPS6KA10.15666758
169FGFR10.13573862

Predicted pathways (KEGG)

RankGene SetZ-score
1* Pancreatic secretion_Homo sapiens_hsa049727.78044717
2Fat digestion and absorption_Homo sapiens_hsa049756.10957578
3Protein digestion and absorption_Homo sapiens_hsa049745.36522351
4Maturity onset diabetes of the young_Homo sapiens_hsa049505.20551838
5Protein export_Homo sapiens_hsa030603.41379480
6Glycerolipid metabolism_Homo sapiens_hsa005612.97963191
7Protein processing in endoplasmic reticulum_Homo sapiens_hsa041412.60354406
8Vitamin digestion and absorption_Homo sapiens_hsa049772.06092083
9Folate biosynthesis_Homo sapiens_hsa007901.96202218
10Valine, leucine and isoleucine degradation_Homo sapiens_hsa002801.93649916
11Steroid biosynthesis_Homo sapiens_hsa001001.78535978
12Cyanoamino acid metabolism_Homo sapiens_hsa004601.60856478
13Glycine, serine and threonine metabolism_Homo sapiens_hsa002601.51370301
14Insulin secretion_Homo sapiens_hsa049111.49040101
15Phototransduction_Homo sapiens_hsa047441.42571704
16Propanoate metabolism_Homo sapiens_hsa006401.41956236
17Dorso-ventral axis formation_Homo sapiens_hsa043201.39209431
18Nicotine addiction_Homo sapiens_hsa050331.37530906
19ABC transporters_Homo sapiens_hsa020101.36109297
20Circadian entrainment_Homo sapiens_hsa047131.32305197
21Renin-angiotensin system_Homo sapiens_hsa046141.31798192
22Histidine metabolism_Homo sapiens_hsa003401.30519400
23Morphine addiction_Homo sapiens_hsa050321.29415919
24Staphylococcus aureus infection_Homo sapiens_hsa051501.21034078
25Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005331.20980710
26Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.19430166
27Circadian rhythm_Homo sapiens_hsa047101.16720388
28Salivary secretion_Homo sapiens_hsa049701.16562211
29Glutamatergic synapse_Homo sapiens_hsa047241.11451524
30Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.11345092
31Drug metabolism - cytochrome P450_Homo sapiens_hsa009821.08961926
32Intestinal immune network for IgA production_Homo sapiens_hsa046721.08758065
33Glycerophospholipid metabolism_Homo sapiens_hsa005641.08350605
34Retrograde endocannabinoid signaling_Homo sapiens_hsa047231.05843204
35alpha-Linolenic acid metabolism_Homo sapiens_hsa005921.02033271
36N-Glycan biosynthesis_Homo sapiens_hsa005100.98795873
37Taste transduction_Homo sapiens_hsa047420.97747555
38Olfactory transduction_Homo sapiens_hsa047400.96869266
39Linoleic acid metabolism_Homo sapiens_hsa005910.96735901
40Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.96720703
41Graft-versus-host disease_Homo sapiens_hsa053320.95107326
42Asthma_Homo sapiens_hsa053100.94446455
43Allograft rejection_Homo sapiens_hsa053300.93468203
44Chemical carcinogenesis_Homo sapiens_hsa052040.93373220
45Ovarian steroidogenesis_Homo sapiens_hsa049130.91403271
46Oxytocin signaling pathway_Homo sapiens_hsa049210.91091206
47Serotonergic synapse_Homo sapiens_hsa047260.88416846
48Selenocompound metabolism_Homo sapiens_hsa004500.85833960
49Autoimmune thyroid disease_Homo sapiens_hsa053200.85523941
50Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.85254631
51Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.83993634
52Sulfur metabolism_Homo sapiens_hsa009200.82293950
53Osteoclast differentiation_Homo sapiens_hsa043800.81982536
54Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.80743254
55Steroid hormone biosynthesis_Homo sapiens_hsa001400.79453824
56* Starch and sucrose metabolism_Homo sapiens_hsa005000.79057737
57Caffeine metabolism_Homo sapiens_hsa002320.77020972
58Vibrio cholerae infection_Homo sapiens_hsa051100.75247574
59Long-term depression_Homo sapiens_hsa047300.74926933
60Primary immunodeficiency_Homo sapiens_hsa053400.74203881
61Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.72508443
62Amphetamine addiction_Homo sapiens_hsa050310.72336332
63cAMP signaling pathway_Homo sapiens_hsa040240.70165061
64Notch signaling pathway_Homo sapiens_hsa043300.69281669
65NOD-like receptor signaling pathway_Homo sapiens_hsa046210.69037072
66Type II diabetes mellitus_Homo sapiens_hsa049300.68998666
67Leishmaniasis_Homo sapiens_hsa051400.67942975
68Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.66731012
69Retinol metabolism_Homo sapiens_hsa008300.66482789
70Dopaminergic synapse_Homo sapiens_hsa047280.66121029
71Jak-STAT signaling pathway_Homo sapiens_hsa046300.65905545
72Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.64684365
73One carbon pool by folate_Homo sapiens_hsa006700.62770168
74Arginine and proline metabolism_Homo sapiens_hsa003300.60721293
75Influenza A_Homo sapiens_hsa051640.60545635
76Endometrial cancer_Homo sapiens_hsa052130.60269601
77Long-term potentiation_Homo sapiens_hsa047200.60196298
78Platelet activation_Homo sapiens_hsa046110.60080856
79Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.58932855
80SNARE interactions in vesicular transport_Homo sapiens_hsa041300.57155249
81T cell receptor signaling pathway_Homo sapiens_hsa046600.57066988
82Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.56923247
83cGMP-PKG signaling pathway_Homo sapiens_hsa040220.56770515
84Tuberculosis_Homo sapiens_hsa051520.55970406
852-Oxocarboxylic acid metabolism_Homo sapiens_hsa012100.55351696
86Peroxisome_Homo sapiens_hsa041460.53617422
87Other glycan degradation_Homo sapiens_hsa005110.53153774
88Nitrogen metabolism_Homo sapiens_hsa009100.53057241
89Type I diabetes mellitus_Homo sapiens_hsa049400.52474941
90Fatty acid degradation_Homo sapiens_hsa000710.51969140
91Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.51766971
92Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.51304021
93Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.51207044
94Tryptophan metabolism_Homo sapiens_hsa003800.50238937
95Insulin resistance_Homo sapiens_hsa049310.50175769
96Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.50133941
97Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.49774423
98Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.49410250
99Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.49290186
100Biosynthesis of amino acids_Homo sapiens_hsa012300.48048600
101Ascorbate and aldarate metabolism_Homo sapiens_hsa000530.46766781
102Hematopoietic cell lineage_Homo sapiens_hsa046400.45723521
103Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.44304148
104GnRH signaling pathway_Homo sapiens_hsa049120.43290074
105B cell receptor signaling pathway_Homo sapiens_hsa046620.42830478
106mTOR signaling pathway_Homo sapiens_hsa041500.42552659
107Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.41928148
108MAPK signaling pathway_Homo sapiens_hsa040100.41854047
109VEGF signaling pathway_Homo sapiens_hsa043700.40470216
110Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.40257867
111Lysosome_Homo sapiens_hsa041420.40152094
112Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.39997242
113Prostate cancer_Homo sapiens_hsa052150.36683484
114* Carbohydrate digestion and absorption_Homo sapiens_hsa049730.35713379
115Cocaine addiction_Homo sapiens_hsa050300.34309213
116Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005340.34040319
117Legionellosis_Homo sapiens_hsa051340.33927115
118Cysteine and methionine metabolism_Homo sapiens_hsa002700.33806358
119Thyroid hormone synthesis_Homo sapiens_hsa049180.33465355
120beta-Alanine metabolism_Homo sapiens_hsa004100.32812071
121Longevity regulating pathway - mammal_Homo sapiens_hsa042110.32599239
122Aldosterone synthesis and secretion_Homo sapiens_hsa049250.31616142
123Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.31198746
124Estrogen signaling pathway_Homo sapiens_hsa049150.30753940
125Cholinergic synapse_Homo sapiens_hsa047250.28644622
126Primary bile acid biosynthesis_Homo sapiens_hsa001200.28571392
127Aminoacyl-tRNA biosynthesis_Homo sapiens_hsa009700.28401953
128Non-small cell lung cancer_Homo sapiens_hsa052230.27563767
129Gastric acid secretion_Homo sapiens_hsa049710.27505160
130Arginine biosynthesis_Homo sapiens_hsa002200.26113365
131Lysine degradation_Homo sapiens_hsa003100.25850612
132Pancreatic cancer_Homo sapiens_hsa052120.22795381
133Glucagon signaling pathway_Homo sapiens_hsa049220.22460811
134Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.21574951
135Insulin signaling pathway_Homo sapiens_hsa049100.21495666
136Pyruvate metabolism_Homo sapiens_hsa006200.20619493
137Ether lipid metabolism_Homo sapiens_hsa005650.19829366
138AMPK signaling pathway_Homo sapiens_hsa041520.18504922
139Glycosaminoglycan degradation_Homo sapiens_hsa005310.17856939
140Toxoplasmosis_Homo sapiens_hsa051450.16836981
141Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.16113929
142Neurotrophin signaling pathway_Homo sapiens_hsa047220.15020629
143Fatty acid metabolism_Homo sapiens_hsa012120.14682514
144Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.14519094
145Bile secretion_Homo sapiens_hsa049760.13773504
146Bladder cancer_Homo sapiens_hsa052190.13480066
147Viral myocarditis_Homo sapiens_hsa054160.12962754
148Calcium signaling pathway_Homo sapiens_hsa040200.12499424
149Regulation of autophagy_Homo sapiens_hsa041400.12126632
150Vascular smooth muscle contraction_Homo sapiens_hsa042700.11713300
151Butanoate metabolism_Homo sapiens_hsa006500.11563961
152Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.11491659
153Thyroid hormone signaling pathway_Homo sapiens_hsa049190.11241299
154Renin secretion_Homo sapiens_hsa049240.09596861
155Arachidonic acid metabolism_Homo sapiens_hsa005900.09130432
156Inositol phosphate metabolism_Homo sapiens_hsa005620.07322437
157GABAergic synapse_Homo sapiens_hsa047270.07036943
158Phosphatidylinositol signaling system_Homo sapiens_hsa040700.06239818
159Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042610.05804760

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