GSDMB

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





Description: This gene encodes a member of the gasdermin-domain containing protein family. Other gasdermin-family genes are implicated in the regulation of apoptosis in epithelial cells, and are linked to cancer. Alternative splicing and the use of alternative promoters results in multiple transcript variants. Additional variants have been described, but they are candidates for nonsense-mediated mRNA decay (NMD) and are unlikely to be protein-coding. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of guanylate cyclase activity (GO:0031282)5.18895355
2drug catabolic process (GO:0042737)4.86781369
3epoxygenase P450 pathway (GO:0019373)4.83993310
4exogenous drug catabolic process (GO:0042738)4.65097160
5antigen processing and presentation of endogenous peptide antigen (GO:0002483)4.56268348
6antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)4.50809989
7positive regulation of respiratory burst (GO:0060267)4.43290431
8antigen processing and presentation of endogenous antigen (GO:0019883)4.32719602
9positive regulation of guanylate cyclase activity (GO:0031284)4.23124247
10angiotensin maturation (GO:0002003)4.21945754
11intestinal absorption (GO:0050892)4.04337118
12drug metabolic process (GO:0017144)3.97587691
13flavonoid metabolic process (GO:0009812)3.96433165
14regulation of cellular extravasation (GO:0002691)3.85349248
15alkaloid metabolic process (GO:0009820)3.81347780
16regulation of triglyceride catabolic process (GO:0010896)3.75736764
17regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)3.74535677
18maintenance of gastrointestinal epithelium (GO:0030277)3.71387967
19arginine metabolic process (GO:0006525)3.69559815
20diacylglycerol metabolic process (GO:0046339)3.66877663
21ethanol oxidation (GO:0006069)3.57577334
22L-fucose catabolic process (GO:0042355)3.53061367
23fucose catabolic process (GO:0019317)3.53061367
24L-fucose metabolic process (GO:0042354)3.53061367
25bile acid and bile salt transport (GO:0015721)3.49202554
26cellular glucuronidation (GO:0052695)3.40142420
27glucuronate metabolic process (GO:0019585)3.39651458
28uronic acid metabolic process (GO:0006063)3.39651458
29negative regulation of leukocyte mediated cytotoxicity (GO:0001911)3.38587164
30negative regulation of cell killing (GO:0031342)3.38587164
31regulation of bile acid biosynthetic process (GO:0070857)3.33201880
32regulation of respiratory burst (GO:0060263)3.22923815
33arginine catabolic process (GO:0006527)3.22126172
34antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G3.18966100
35oxidative demethylation (GO:0070989)3.14512670
36cytidine metabolic process (GO:0046087)3.08405890
37cytidine catabolic process (GO:0006216)3.08405890
38cytidine deamination (GO:0009972)3.08405890
39fat-soluble vitamin biosynthetic process (GO:0042362)3.07099281
40killing of cells of other organism (GO:0031640)3.06994953
41disruption of cells of other organism (GO:0044364)3.06994953
42phosphatidylserine acyl-chain remodeling (GO:0036150)3.06832357
43ethanol metabolic process (GO:0006067)3.06137500
44glycerol metabolic process (GO:0006071)3.04920183
45pyrimidine ribonucleoside catabolic process (GO:0046133)3.00665655
46sulfate transmembrane transport (GO:1902358)3.00646796
47regulation of systemic arterial blood pressure mediated by a chemical signal (GO:0003044)2.99149336
48endocrine process (GO:0050886)2.99149336
49regulation of systemic arterial blood pressure by hormone (GO:0001990)2.99149336
50regulation of cGMP biosynthetic process (GO:0030826)2.98140968
51complement activation, classical pathway (GO:0006958)2.97186232
52fucosylation (GO:0036065)2.96175351
53phenylpropanoid metabolic process (GO:0009698)2.90506952
54phosphatidylinositol acyl-chain remodeling (GO:0036149)2.89606813
55indole-containing compound catabolic process (GO:0042436)2.80128973
56indolalkylamine catabolic process (GO:0046218)2.80128973
57tryptophan catabolic process (GO:0006569)2.80128973
58sulfation (GO:0051923)2.79812137
59regulation of systemic arterial blood pressure (GO:0003073)2.79732309
60positive regulation of glycoprotein biosynthetic process (GO:0010560)2.74468967
61very-low-density lipoprotein particle assembly (GO:0034379)2.71761593
62vitamin transmembrane transport (GO:0035461)2.71454691
63activated T cell proliferation (GO:0050798)2.71152835
64phosphatidylethanolamine acyl-chain remodeling (GO:0036152)2.68977633
65positive regulation of antigen processing and presentation (GO:0002579)2.68570843
663-phosphoadenosine 5-phosphosulfate metabolic process (GO:0050427)2.66016973
67purine ribonucleoside bisphosphate metabolic process (GO:0034035)2.66016973
68high-density lipoprotein particle remodeling (GO:0034375)2.65859911
69regulation of T cell mediated cytotoxicity (GO:0001914)2.65475880
70hormone catabolic process (GO:0042447)2.64304679
71phosphatidylglycerol acyl-chain remodeling (GO:0036148)2.62513811
72regulation of antigen processing and presentation of peptide antigen (GO:0002583)2.57835842
73alditol metabolic process (GO:0019400)2.56754180
74bile acid metabolic process (GO:0008206)2.56543494
75receptor guanylyl cyclase signaling pathway (GO:0007168)2.54704124
76indolalkylamine metabolic process (GO:0006586)2.54166095
77digestion (GO:0007586)2.54116940
78complement activation (GO:0006956)2.53161219
79triglyceride-rich lipoprotein particle remodeling (GO:0034370)2.53141177
80phosphatidylcholine acyl-chain remodeling (GO:0036151)2.52202137
81positive regulation of T cell mediated cytotoxicity (GO:0001916)2.52140434
82lipoprotein transport (GO:0042953)2.51473879
83transepithelial transport (GO:0070633)2.50561012
84plasma lipoprotein particle remodeling (GO:0034369)2.49013273
85protein-lipid complex remodeling (GO:0034368)2.49013273
86macromolecular complex remodeling (GO:0034367)2.49013273
87regulation of gamma-delta T cell differentiation (GO:0045586)2.48746536
88positive regulation of fatty acid beta-oxidation (GO:0032000)2.46573664
89cellular ketone body metabolic process (GO:0046950)2.46223822
90sulfate transport (GO:0008272)2.46191279
91positive regulation of fatty acid transport (GO:2000193)2.45197414
92regulation of cGMP metabolic process (GO:0030823)2.44701939
93plasma lipoprotein particle assembly (GO:0034377)2.42555732
94antigen processing and presentation via MHC class Ib (GO:0002475)2.42219359
95phosphatidylcholine metabolic process (GO:0046470)2.42134205
96negative regulation of T cell differentiation in thymus (GO:0033085)2.41222340
97epithelial structure maintenance (GO:0010669)2.40791814
98antibacterial humoral response (GO:0019731)2.39127651
99omega-hydroxylase P450 pathway (GO:0097267)2.38980362
100regulation of protein glycosylation (GO:0060049)2.38884832

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1IRF8_22096565_ChIP-ChIP_GC-B_Human4.24156577
2* IRF1_21803131_ChIP-Seq_MONOCYTES_Human3.80787974
3EGR1_23403033_ChIP-Seq_LIVER_Mouse2.34011184
4VDR_22108803_ChIP-Seq_LS180_Human2.25764491
5CDX2_20551321_ChIP-Seq_CACO-2_Human2.17975754
6STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.06727468
7DROSHA_22980978_ChIP-Seq_HELA_Human1.95725393
8GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.94929957
9PPARA_22158963_ChIP-Seq_LIVER_Mouse1.83929157
10GATA4_25053715_ChIP-Seq_YYC3_Human1.79811491
11ZNF274_21170338_ChIP-Seq_K562_Hela1.79190462
12CTNNB1_24651522_ChIP-Seq_LGR5+_INTESTINAL_STEM_Human1.71665170
13BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.61908039
14ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.56778294
15FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.56380953
16RXR_22158963_ChIP-Seq_LIVER_Mouse1.53857036
17STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse1.53630795
18RUNX_20019798_ChIP-Seq_JUKART_Human1.51733236
19LXR_22158963_ChIP-Seq_LIVER_Mouse1.47470103
20BCAT_22108803_ChIP-Seq_LS180_Human1.47444838
21IRF8_21731497_ChIP-ChIP_J774_Mouse1.46771171
22ETV2_25802403_ChIP-Seq_MESCs_Mouse1.41255384
23PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.41132057
24EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.37274561
25PBX1_22567123_ChIP-ChIP_OVCAR3_Human1.35817543
26VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.33513238
27* NANOG_20526341_ChIP-Seq_ESCs_Human1.29959562
28LYL1_20887958_ChIP-Seq_HPC-7_Mouse1.29516407
29ER_23166858_ChIP-Seq_MCF-7_Human1.28107201
30CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.27278953
31AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.20841791
32BCL6_27268052_Chip-Seq_Bcells_Human1.20067418
33* ERA_21632823_ChIP-Seq_H3396_Human1.19319770
34E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.18762930
35CEBPB_22108803_ChIP-Seq_LS180_Human1.17336856
36FOXO3_23340844_ChIP-Seq_DLD1_Human1.17301805
37RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.15541940
38GATA6_25053715_ChIP-Seq_YYC3_Human1.15305849
39FOXA1_25329375_ChIP-Seq_VCAP_Human1.15260199
40FOXA1_27270436_Chip-Seq_PROSTATE_Human1.15260199
41* TAF2_19829295_ChIP-Seq_ESCs_Human1.14972571
42SOX2_27498859_Chip-Seq_STOMACH_Mouse1.14547488
43* GATA3_21878914_ChIP-Seq_MCF-7_Human1.13391635
44GATA3_22897851_ChIP-Seq_JUKARTE6-1_Human1.13210844
45CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.12549947
46GATA3_26560356_Chip-Seq_TH2_Human1.12200959
47* MYC_19829295_ChIP-Seq_ESCs_Human1.11978714
48FOXA1_21572438_ChIP-Seq_LNCaP_Human1.11931320
49ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.11615843
50NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.10862232
51GATA2_20887958_ChIP-Seq_HPC-7_Mouse1.10664210
52AR_20517297_ChIP-Seq_VCAP_Human1.09971821
53BP1_19119308_ChIP-ChIP_Hs578T_Human1.08234251
54FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.08102141
55P53_21459846_ChIP-Seq_SAOS-2_Human1.08056569
56TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.05625015
57PCGF2_27294783_Chip-Seq_NPCs_Mouse1.04230418
58OCT4_20526341_ChIP-Seq_ESCs_Human1.04200684
59* E2F1_20622854_ChIP-Seq_HELA_Human1.03105192
60* CDX2_22108803_ChIP-Seq_LS180_Human1.02542610
61* BCOR_27268052_Chip-Seq_Bcells_Human1.02445169
62EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.02379642
63TAL1_22897851_ChIP-Seq_JUKARTE6-1_Human1.01721256
64P300_27268052_Chip-Seq_Bcells_Human1.01634005
65EBNA1_20929547_Chip-Seq_RAJI-cells_Human1.00926624
66NCOR_22424771_ChIP-Seq_293T_Human1.00793656
67HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.00667832
68MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.00569227
69* FOXA2_19822575_ChIP-Seq_HepG2_Human1.00516046
70FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.00303665
71FOXH1_21741376_ChIP-Seq_ESCs_Human0.98763908
72* HNF4A_19822575_ChIP-Seq_HepG2_Human0.98212830
73SA1_27219007_Chip-Seq_Bcells_Human0.94932382
74AHR_22903824_ChIP-Seq_MCF-7_Human0.94594329
75GATA3_27048872_Chip-Seq_THYMUS_Human0.94486802
76PRDM14_20953172_ChIP-Seq_ESCs_Human0.93244548
77IRF8_22096565_ChIP-ChIP_GC-B_Mouse0.93216204
78* SMAD2/3_21741376_ChIP-Seq_ESCs_Human0.93043504
79FOXA1_25552417_ChIP-Seq_VCAP_Human0.92671206
80STAT1_20625510_ChIP-Seq_HELA_Human0.92203471
81CTBP1_25329375_ChIP-Seq_LNCAP_Human0.92191440
82RXR_22108803_ChIP-Seq_LS180_Human0.91815374
83PHF8_20622854_ChIP-Seq_HELA_Human0.91775885
84RAC3_21632823_ChIP-Seq_H3396_Human0.90536413
85* HOXB7_26014856_ChIP-Seq_BT474_Human0.90220117
86SOX2_20726797_ChIP-Seq_SW620_Human0.89431001
87MYB_26560356_Chip-Seq_TH2_Human0.89212434
88TCF4_22108803_ChIP-Seq_LS180_Human0.87609136
89SMRT_27268052_Chip-Seq_Bcells_Human0.87068478
90IRF1_19129219_ChIP-ChIP_H3396_Human0.86793571
91FLI1_27457419_Chip-Seq_LIVER_Mouse0.85805456
92EBNA2_21746931_ChIP-Seq_IB4-LCL_Human0.85591464
93RUNX1_20887958_ChIP-Seq_HPC-7_Mouse0.85449514
94BMI1_19503595_ChIP-Seq_MEFsC_Mouse0.85359004
95PCGF2_27294783_Chip-Seq_ESCs_Mouse0.84120938
96REST_21632747_ChIP-Seq_MESCs_Mouse0.84084509
97RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse0.83660219
98CEBPA_26348894_ChIP-Seq_LIVER_Mouse0.83566786
99NR3C1_21868756_ChIP-Seq_MCF10A_Human0.83251539
100GATA1_22025678_ChIP-Seq_K562_Human0.83224651

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005360_urolithiasis5.24686480
2MP0005085_abnormal_gallbladder_physiolo3.75376320
3MP0002139_abnormal_hepatobiliary_system3.50156313
4MP0005365_abnormal_bile_salt3.17559610
5MP0001666_abnormal_nutrient_absorption3.09733599
6MP0002876_abnormal_thyroid_physiology2.82415582
7MP0008875_abnormal_xenobiotic_pharmacok2.65841763
8MP0010155_abnormal_intestine_physiology2.60275456
9MP0003866_abnormal_defecation2.59668168
10MP0004147_increased_porphyrin_level2.52788048
11MP0004043_abnormal_pH_regulation2.52682764
12MP0001873_stomach_inflammation2.52533244
13MP0002138_abnormal_hepatobiliary_system2.36186894
14MP0003252_abnormal_bile_duct2.27843415
15MP0003183_abnormal_peptide_metabolism2.26891231
16MP0004019_abnormal_vitamin_homeostasis2.20781820
17MP0010329_abnormal_lipoprotein_level2.14347002
18MP0003195_calcinosis2.14334637
19MP0005671_abnormal_response_to2.11362440
20MP0004264_abnormal_extraembryonic_tissu2.02656678
21MP0003724_increased_susceptibility_to1.97501516
22MP0008872_abnormal_physiological_respon1.95828384
23MP0001800_abnormal_humoral_immune1.76283134
24MP0001835_abnormal_antigen_presentation1.74640447
25MP0000685_abnormal_immune_system1.73578979
26MP0009785_altered_susceptibility_to1.72472168
27MP0005387_immune_system_phenotype1.71969780
28MP0001790_abnormal_immune_system1.71969780
29MP0003787_abnormal_imprinting1.58257397
30MP0001664_abnormal_digestion1.57376480
31MP0001663_abnormal_digestive_system1.56280035
32MP0001765_abnormal_ion_homeostasis1.52266370
33MP0005025_abnormal_response_to1.47537421
34MP0009643_abnormal_urine_homeostasis1.46776805
35MP0005332_abnormal_amino_acid1.46733102
36MP0001501_abnormal_sleep_pattern1.45740791
37MP0001764_abnormal_homeostasis1.44439103
38MP0001986_abnormal_taste_sensitivity1.44319785
39MP0003763_abnormal_thymus_physiology1.38104578
40MP0003436_decreased_susceptibility_to1.37442955
41MP0005670_abnormal_white_adipose1.27666581
42MP0005636_abnormal_mineral_homeostasis1.24172196
43MP0002723_abnormal_immune_serum1.22921581
44MP0009379_abnormal_foot_pigmentation1.21858260
45MP0002136_abnormal_kidney_physiology1.21602521
46MP0001485_abnormal_pinna_reflex1.21516515
47MP0002118_abnormal_lipid_homeostasis1.20877718
48MP0001845_abnormal_inflammatory_respons1.20062424
49MP0005000_abnormal_immune_tolerance1.11829884
50MP0002166_altered_tumor_susceptibility1.10607013
51MP0005645_abnormal_hypothalamus_physiol1.09357228
52MP0003868_abnormal_feces_composition1.08691856
53MP0002452_abnormal_antigen_presenting1.07996274
54MP0009840_abnormal_foam_cell1.07934555
55MP0003879_abnormal_hair_cell1.07420133
56MP0009764_decreased_sensitivity_to1.07405065
57MP0001819_abnormal_immune_cell1.07367482
58MP0005448_abnormal_energy_balance1.06705421
59MP0002420_abnormal_adaptive_immunity1.05860912
60MP0004782_abnormal_surfactant_physiolog1.04971196
61MP0005310_abnormal_salivary_gland1.03297210
62MP0000230_abnormal_systemic_arterial1.01630166
63MP0000609_abnormal_liver_physiology1.01510236
64MP0005381_digestive/alimentary_phenotyp1.00687914
65MP0000477_abnormal_intestine_morphology1.00575208
66MP0003045_fibrosis0.97617482
67MP0005551_abnormal_eye_electrophysiolog0.97485223
68MP0000427_abnormal_hair_cycle0.95336698
69MP0008469_abnormal_protein_level0.93818844
70MP0005166_decreased_susceptibility_to0.93277973
71MP0001756_abnormal_urination0.91711711
72MP0006082_CNS_inflammation0.91634385
73MP0005535_abnormal_body_temperature0.89181030
74MP0002148_abnormal_hypersensitivity_rea0.87528806
75MP0002933_joint_inflammation0.87406761
76MP0002132_abnormal_respiratory_system0.87142598
77MP0003011_delayed_dark_adaptation0.86218243
78MP0005377_hearing/vestibular/ear_phenot0.84426150
79MP0003878_abnormal_ear_physiology0.84426150
80MP0009642_abnormal_blood_homeostasis0.82136862
81MP0009333_abnormal_splenocyte_physiolog0.81273290
82MP0008775_abnormal_heart_ventricle0.81132022
83MP0002638_abnormal_pupillary_reflex0.80400528
84MP0000716_abnormal_immune_system0.80203631
85MP0002102_abnormal_ear_morphology0.78432443
86MP0000538_abnormal_urinary_bladder0.76025579
87MP0002277_abnormal_respiratory_mucosa0.75734426
88MP0002419_abnormal_innate_immunity0.75572872
89MP0003646_muscle_fatigue0.74092381
90MP0003638_abnormal_response/metabolism_0.73303739
91MP0000678_abnormal_parathyroid_gland0.72842602
92MP0005319_abnormal_enzyme/_coenzyme0.70268470
93MP0004484_altered_response_of0.68665865
94MP0005584_abnormal_enzyme/coenzyme_acti0.68313284
95MP0002078_abnormal_glucose_homeostasis0.66898844
96MP0003806_abnormal_nucleotide_metabolis0.65770358
97MP0001533_abnormal_skeleton_physiology0.65500944
98MP0004947_skin_inflammation0.65344966
99MP0001188_hyperpigmentation0.64609805
100MP0005174_abnormal_tail_pigmentation0.64373258

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of glutamine family amino acid metabolism (HP:0010902)5.14820004
2Decreased circulating renin level (HP:0003351)4.10116016
3Malnutrition (HP:0004395)3.68929876
4Hydroxyprolinuria (HP:0003080)3.43307647
5Abnormality of proline metabolism (HP:0010907)3.43307647
6Chronic diarrhea (HP:0002028)3.39097248
7Hypobetalipoproteinemia (HP:0003563)3.38109830
8Stomach cancer (HP:0012126)3.33801119
9Abnormality of renin-angiotensin system (HP:0000847)3.21322271
10Hyperactive renin-angiotensin system (HP:0000841)3.13728928
11Alkalosis (HP:0001948)3.10451545
12Congenital stationary night blindness (HP:0007642)3.06569523
13Elevated erythrocyte sedimentation rate (HP:0003565)3.06563032
14Metabolic alkalosis (HP:0200114)3.00635142
15Systemic lupus erythematosus (HP:0002725)2.99692659
16Abnormal delayed hypersensitivity skin test (HP:0002963)2.98407282
17Abnormality of B cell number (HP:0010975)2.85297796
18Abnormality of the vitamin B12 metabolism (HP:0004341)2.78382827
19Pigmentary retinal degeneration (HP:0001146)2.75944006
20Abnormality of monocarboxylic acid metabolism (HP:0010996)2.72023028
21Abnormality of vitamin B metabolism (HP:0004340)2.71564057
22Recurrent bronchitis (HP:0002837)2.69638098
23Pustule (HP:0200039)2.65690681
24Ileus (HP:0002595)2.62709835
25Abnormality of the renal cortex (HP:0011035)2.60660311
26Hyperventilation (HP:0002883)2.58289510
27Alveolar cell carcinoma (HP:0006519)2.57235198
28Confusion (HP:0001289)2.55761894
29Congenital sensorineural hearing impairment (HP:0008527)2.51029663
30Widely patent fontanelles and sutures (HP:0004492)2.39563120
31Eczematoid dermatitis (HP:0000976)2.39025436
32Hyperglycinuria (HP:0003108)2.37619529
33Hypochromic anemia (HP:0001931)2.37429281
34Panhypogammaglobulinemia (HP:0003139)2.37391262
35Abnormality of urine glucose concentration (HP:0011016)2.34929146
36Glycosuria (HP:0003076)2.34929146
37Neoplasm of the tracheobronchial system (HP:0100552)2.33335468
38Complement deficiency (HP:0004431)2.31526814
39Myositis (HP:0100614)2.30090356
40Acanthocytosis (HP:0001927)2.27600340
41Chronic sinusitis (HP:0011109)2.27101255
42Encephalitis (HP:0002383)2.24659658
43Renal cortical cysts (HP:0000803)2.24402105
44Recurrent fungal infections (HP:0002841)2.23203878
45Vasculitis (HP:0002633)2.21595679
46Pancreatic cysts (HP:0001737)2.19989917
47Orchitis (HP:0100796)2.19463516
48Abnormality of T cell number (HP:0011839)2.18453910
49Gastrointestinal infarctions (HP:0005244)2.18368995
50Abnormality of T cells (HP:0002843)2.17884021
51Abnormality of glycine metabolism (HP:0010895)2.17760079
52Abnormality of serine family amino acid metabolism (HP:0010894)2.17760079
53Optic neuritis (HP:0100653)2.16994632
54Retrobulbar optic neuritis (HP:0100654)2.16994632
55Abnormality of vitamin metabolism (HP:0100508)2.14846597
56Bronchitis (HP:0012387)2.11620029
57Abnormality of T cell physiology (HP:0011840)2.11556326
58Cerebral palsy (HP:0100021)2.10646504
59Molar tooth sign on MRI (HP:0002419)2.08883496
60Abnormality of midbrain morphology (HP:0002418)2.08883496
61Conjugated hyperbilirubinemia (HP:0002908)2.08042653
62Hyperlipoproteinemia (HP:0010980)2.05202733
63Chronic otitis media (HP:0000389)2.05104707
64Proximal tubulopathy (HP:0000114)2.04589203
65B lymphocytopenia (HP:0010976)2.04507168
66Thyroiditis (HP:0100646)2.00659546
67Glomerulonephritis (HP:0000099)2.00090841
68Abnormality of chloride homeostasis (HP:0011422)1.99539244
69Recurrent sinusitis (HP:0011108)1.98529931
70Fat malabsorption (HP:0002630)1.98426013
71Potter facies (HP:0002009)1.98170360
72Facial shape deformation (HP:0011334)1.98170360
73Xanthomatosis (HP:0000991)1.95039621
74Prolonged partial thromboplastin time (HP:0003645)1.92869332
75Abnormal rod and cone electroretinograms (HP:0008323)1.92263559
76Poikilocytosis (HP:0004447)1.91265632
77Delayed CNS myelination (HP:0002188)1.90762046
78Hemoptysis (HP:0002105)1.89041301
79Chronic hepatic failure (HP:0100626)1.88546681
80Recurrent gram-negative bacterial infections (HP:0005420)1.88168472
81Bronchiectasis (HP:0002110)1.87818551
82Chronic mucocutaneous candidiasis (HP:0002728)1.87544631
83Recurrent cutaneous fungal infections (HP:0011370)1.87544631
84Meningitis (HP:0001287)1.87317345
85Hemorrhage of the eye (HP:0011885)1.86835227
86Abolished electroretinogram (ERG) (HP:0000550)1.86747245
87Abnormal albumin level (HP:0012116)1.85322853
88Hypoalbuminemia (HP:0003073)1.85322853
89IgG deficiency (HP:0004315)1.85145882
90Abnormality of small intestinal villus morphology (HP:0011472)1.85055858
91Villous atrophy (HP:0011473)1.85055858
92Hypochromic microcytic anemia (HP:0004840)1.84181435
93Agammaglobulinemia (HP:0004432)1.84105024
94Metabolic acidosis (HP:0001942)1.83985871
95Pancreatitis (HP:0001733)1.82431903
96T lymphocytopenia (HP:0005403)1.80409544
97Tubular atrophy (HP:0000092)1.80234402
98Nephritis (HP:0000123)1.79615643
99Absent rod-and cone-mediated responses on ERG (HP:0007688)1.79184407
100Abnormality of eosinophils (HP:0001879)1.79133438

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ACVR1B4.21880708
2FRK3.92191965
3MAP4K12.97477306
4TAOK32.49333888
5MST1R2.46800632
6TXK2.45857989
7WNK42.34039544
8ERN12.33071009
9MATK2.14662710
10STK392.08788862
11PIK3CA2.08110236
12FGFR42.01845713
13BMPR1B1.84867634
14OXSR11.83668045
15GRK11.79602194
16EPHA31.76575953
17TNK21.76511341
18SIK21.71755604
19GRK61.66089814
20ADRBK21.60071639
21RIPK41.55075273
22TYK21.52620991
23NLK1.44337299
24DAPK21.43847131
25MAP3K71.40982592
26ITK1.36753176
27FGFR31.34768387
28ERBB21.32664991
29IKBKE1.28895368
30CASK1.26341657
31EPHA21.25127647
32MAP2K61.20875054
33SYK1.16921699
34MST41.13604292
35INSRR1.08359113
36PRKG21.07277756
37CDC42BPA1.06187762
38BTK1.06173115
39ZAP701.04887348
40EPHB11.04540800
41SIK31.02368783
42PRKCQ1.01072286
43CSK0.96141256
44TEC0.94479122
45LCK0.94143113
46IRAK10.93753611
47NME10.93047009
48MAPK130.89470602
49TNIK0.87847898
50KIT0.84878890
51LYN0.83709417
52CDK120.82369972
53MAPK110.81321579
54PTK2B0.81031981
55JAK10.79017243
56TYRO30.76616823
57WNK30.75494792
58PRKAA20.75348444
59PAK30.73865019
60MAP4K20.72720295
61FGFR20.71156144
62JAK30.70755077
63BLK0.70586922
64IKBKB0.70283026
65CAMKK10.70273792
66PTK60.70066089
67PRKCI0.69991578
68FES0.69118506
69PINK10.68883948
70MAP3K110.66758313
71PDK10.66732311
72PRKCH0.66188448
73ADRBK10.65120905
74MAP3K130.63353833
75MET0.62294602
76PRKCZ0.59869360
77CSF1R0.59726915
78FER0.56790966
79TBK10.54619612
80AKT30.53608855
81CAMKK20.51737004
82NUAK10.50881021
83HCK0.50857547
84NTRK30.50134143
85MAP3K20.50072103
86WNK10.48183166
87MAPK150.46321045
88MAP2K20.45863003
89MAPKAPK30.45451912
90STK110.45229035
91CHUK0.45052636
92FGR0.44800239
93MARK20.44096567
94PRKCA0.43329770
95STK240.40937169
96TLK10.40893539
97HIPK20.40356382
98SGK10.39396685
99IRAK40.38067572
100MAP3K10.36872400

Predicted pathways (KEGG)

RankGene SetZ-score
1Cyanoamino acid metabolism_Homo sapiens_hsa004603.59896831
2Caffeine metabolism_Homo sapiens_hsa002323.41822689
3Fat digestion and absorption_Homo sapiens_hsa049753.10860457
4Linoleic acid metabolism_Homo sapiens_hsa005913.08145027
5alpha-Linolenic acid metabolism_Homo sapiens_hsa005922.72637278
6Ascorbate and aldarate metabolism_Homo sapiens_hsa000532.45215244
7Drug metabolism - cytochrome P450_Homo sapiens_hsa009822.35030802
8Chemical carcinogenesis_Homo sapiens_hsa052042.32630074
9Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006012.30615359
10Histidine metabolism_Homo sapiens_hsa003402.25049888
11Retinol metabolism_Homo sapiens_hsa008302.24585543
12Vitamin digestion and absorption_Homo sapiens_hsa049772.14822001
13Intestinal immune network for IgA production_Homo sapiens_hsa046722.06286492
14Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009801.99655312
15Steroid hormone biosynthesis_Homo sapiens_hsa001401.82122285
16Graft-versus-host disease_Homo sapiens_hsa053321.80204391
17Pentose and glucuronate interconversions_Homo sapiens_hsa000401.80076472
18Primary immunodeficiency_Homo sapiens_hsa053401.79232656
19Arginine biosynthesis_Homo sapiens_hsa002201.76154201
20Allograft rejection_Homo sapiens_hsa053301.75132244
21Taurine and hypotaurine metabolism_Homo sapiens_hsa004301.74610380
22Staphylococcus aureus infection_Homo sapiens_hsa051501.74593778
23Mineral absorption_Homo sapiens_hsa049781.71065264
24Autoimmune thyroid disease_Homo sapiens_hsa053201.70651347
25Arachidonic acid metabolism_Homo sapiens_hsa005901.70039074
26Asthma_Homo sapiens_hsa053101.69629953
27Renin-angiotensin system_Homo sapiens_hsa046141.60657280
28ABC transporters_Homo sapiens_hsa020101.56690917
29Maturity onset diabetes of the young_Homo sapiens_hsa049501.55297250
30Glycerolipid metabolism_Homo sapiens_hsa005611.54638227
31Tryptophan metabolism_Homo sapiens_hsa003801.54598119
32Ether lipid metabolism_Homo sapiens_hsa005651.52758847
33Fatty acid degradation_Homo sapiens_hsa000711.47040330
34Type I diabetes mellitus_Homo sapiens_hsa049401.44814652
35Drug metabolism - other enzymes_Homo sapiens_hsa009831.42984554
36Starch and sucrose metabolism_Homo sapiens_hsa005001.36212623
37Sulfur metabolism_Homo sapiens_hsa009201.35243233
38Nitrogen metabolism_Homo sapiens_hsa009101.30819310
39Carbohydrate digestion and absorption_Homo sapiens_hsa049731.30752136
40Bile secretion_Homo sapiens_hsa049761.23272993
41PPAR signaling pathway_Homo sapiens_hsa033201.18488463
42Inflammatory bowel disease (IBD)_Homo sapiens_hsa053211.16240694
43Butanoate metabolism_Homo sapiens_hsa006501.10262977
44Complement and coagulation cascades_Homo sapiens_hsa046101.09504563
45Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008601.00228521
46Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049640.97972442
47Glycerophospholipid metabolism_Homo sapiens_hsa005640.97544406
48Primary bile acid biosynthesis_Homo sapiens_hsa001200.91764347
49Peroxisome_Homo sapiens_hsa041460.89639315
50Antigen processing and presentation_Homo sapiens_hsa046120.88506569
51Arginine and proline metabolism_Homo sapiens_hsa003300.83275636
52Protein digestion and absorption_Homo sapiens_hsa049740.80921397
53Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.79683801
54Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.76392091
55Fructose and mannose metabolism_Homo sapiens_hsa000510.76152069
56Tyrosine metabolism_Homo sapiens_hsa003500.75556596
57Hematopoietic cell lineage_Homo sapiens_hsa046400.73487956
58Pancreatic secretion_Homo sapiens_hsa049720.69869785
59Cell adhesion molecules (CAMs)_Homo sapiens_hsa045140.65756192
60Phenylalanine metabolism_Homo sapiens_hsa003600.62483570
61Phototransduction_Homo sapiens_hsa047440.61427642
62Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.56942877
63Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.54185940
64T cell receptor signaling pathway_Homo sapiens_hsa046600.51229949
65Leishmaniasis_Homo sapiens_hsa051400.50088986
66Valine, leucine and isoleucine degradation_Homo sapiens_hsa002800.47727386
67Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.40842932
68Insulin secretion_Homo sapiens_hsa049110.40547025
69Vascular smooth muscle contraction_Homo sapiens_hsa042700.39939250
70Insulin resistance_Homo sapiens_hsa049310.39520223
71Fatty acid biosynthesis_Homo sapiens_hsa000610.39045948
72Serotonergic synapse_Homo sapiens_hsa047260.39045508
73beta-Alanine metabolism_Homo sapiens_hsa004100.38868947
74Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.37220880
75Cytokine-cytokine receptor interaction_Homo sapiens_hsa040600.37130415
76Chemokine signaling pathway_Homo sapiens_hsa040620.36226251
77African trypanosomiasis_Homo sapiens_hsa051430.32880805
78NF-kappa B signaling pathway_Homo sapiens_hsa040640.32657403
79Ovarian steroidogenesis_Homo sapiens_hsa049130.30922781
80Dorso-ventral axis formation_Homo sapiens_hsa043200.30689030
81Viral myocarditis_Homo sapiens_hsa054160.28644723
82Renin secretion_Homo sapiens_hsa049240.27750574
83Cytosolic DNA-sensing pathway_Homo sapiens_hsa046230.27218319
84Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.26689044
85Tuberculosis_Homo sapiens_hsa051520.26306867
86Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.24818024
87Propanoate metabolism_Homo sapiens_hsa006400.24791482
88Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.24662831
89Metabolic pathways_Homo sapiens_hsa011000.22059062
90Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005630.21816581
91Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.21535659
92Thyroid hormone synthesis_Homo sapiens_hsa049180.20790775
93Hepatitis C_Homo sapiens_hsa051600.20780950
94Taste transduction_Homo sapiens_hsa047420.20591743
95Fatty acid metabolism_Homo sapiens_hsa012120.20409175
96Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.19893715
97Jak-STAT signaling pathway_Homo sapiens_hsa046300.19654571
98Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001300.19628951
99B cell receptor signaling pathway_Homo sapiens_hsa046620.19408503
100Glutathione metabolism_Homo sapiens_hsa004800.17990288

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