GGTLC1

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 gamma-glutamyl transpeptidase (GGT) family, which are important in the metabolism of glutathione. The most ubiquitously expressed human GGT gene, GGT1, encodes a single transmembrane polypeptide that is post-translationally processed to form a heavy and a light chain. In contrast, the product of this gene only contains homology to the light chain region, and lacks a transmembrane domain. Multiple alternatively spliced variants, encoding the same protein, have been identified. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1peptide catabolic process (GO:0043171)9.72293674
2regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)9.57695855
3bundle of His cell to Purkinje myocyte communication (GO:0086069)8.81597585
4* unsaturated fatty acid biosynthetic process (GO:0006636)8.44757128
5detection of molecule of bacterial origin (GO:0032490)8.29136856
6* glutathione metabolic process (GO:0006749)7.82472527
7surfactant homeostasis (GO:0043129)7.31492659
8glutathione biosynthetic process (GO:0006750)6.33935385
9mitochondrion distribution (GO:0048311)6.01544660
10chemical homeostasis within a tissue (GO:0048875)5.90402101
11nonribosomal peptide biosynthetic process (GO:0019184)5.86578158
12* icosanoid metabolic process (GO:0006690)5.35862830
13* fatty acid derivative metabolic process (GO:1901568)5.35862830
14microglial cell activation (GO:0001774)5.21502531
15protein ADP-ribosylation (GO:0006471)5.06931694
16positive regulation by symbiont of host defense response (GO:0052509)4.99127409
17modulation by symbiont of host defense response (GO:0052031)4.99127409
18modulation by organism of immune response of other organism involved in symbiotic interaction (GO:004.99127409
19modulation by organism of defense response of other organism involved in symbiotic interaction (GO:04.99127409
20positive regulation by organism of defense response of other organism involved in symbiotic interact4.99127409
21modulation by symbiont of host immune response (GO:0052553)4.99127409
22mitochondrial calcium ion transport (GO:0006851)4.71976211
23* unsaturated fatty acid metabolic process (GO:0033559)4.65687310
24serine family amino acid biosynthetic process (GO:0009070)4.64781667
25positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)4.32915362
26cerebellar Purkinje cell differentiation (GO:0021702)4.30762356
27cellular modified amino acid catabolic process (GO:0042219)4.26793427
28detection of external biotic stimulus (GO:0098581)4.23885640
29peptide biosynthetic process (GO:0043043)4.20418855
30protein prenylation (GO:0018342)4.08146621
31prenylation (GO:0097354)4.08146621
32pathway-restricted SMAD protein phosphorylation (GO:0060389)4.06220539
33macrophage activation involved in immune response (GO:0002281)3.98250378
34neurological system process involved in regulation of systemic arterial blood pressure (GO:0001976)3.91933613
35regulation of interleukin-6 biosynthetic process (GO:0045408)3.80064264
36macrophage activation (GO:0042116)3.77595939
37negative regulation of cAMP-mediated signaling (GO:0043951)3.72213186
38phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)3.67993913
39regulation of tumor necrosis factor biosynthetic process (GO:0042534)3.65111342
40* fatty acid biosynthetic process (GO:0006633)3.64577042
41detection of biotic stimulus (GO:0009595)3.54088429
42* peptide metabolic process (GO:0006518)3.42478495
43glutamate metabolic process (GO:0006536)3.41010375
44positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)3.38858253
45response to host immune response (GO:0052572)3.37277035
46response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.37277035
47glutathione derivative biosynthetic process (GO:1901687)3.30139769
48glutathione derivative metabolic process (GO:1901685)3.30139769
49sulfur amino acid biosynthetic process (GO:0000097)3.22245819
50dopamine transport (GO:0015872)3.21227692
51T-helper 1 type immune response (GO:0042088)3.16022317
52response to host (GO:0075136)3.06602274
53response to host defenses (GO:0052200)3.06602274
54response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.06602274
55negative regulation of complement activation (GO:0045916)3.02199925
56neuronal action potential (GO:0019228)2.98234000
57histone H3-K36 demethylation (GO:0070544)2.97969497
58androgen biosynthetic process (GO:0006702)2.93837030
59cell communication involved in cardiac conduction (GO:0086065)2.87704381
60I-kappaB phosphorylation (GO:0007252)2.87136081
61viral mRNA export from host cell nucleus (GO:0046784)2.85531763
62regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)2.83084232
63regulation of dopamine uptake involved in synaptic transmission (GO:0051584)2.83084232
64phosphatidylethanolamine metabolic process (GO:0046337)2.78142650
65response to acidic pH (GO:0010447)2.77264264
66cellular response to reactive nitrogen species (GO:1902170)2.76140989
67lipid translocation (GO:0034204)2.72521095
68phospholipid translocation (GO:0045332)2.72521095
69negative regulation of protein activation cascade (GO:2000258)2.71149704
70regulation of membrane depolarization (GO:0003254)2.67659124
71neural tube formation (GO:0001841)2.66834291
72positive regulation of RNA splicing (GO:0033120)2.62104523
73iron ion import (GO:0097286)2.59654199
74histone H3-K9 demethylation (GO:0033169)2.56816079
75membrane protein proteolysis (GO:0033619)2.54892305
76protein K11-linked deubiquitination (GO:0035871)2.52243041
77T-helper cell differentiation (GO:0042093)2.51947289
78CD4-positive, alpha-beta T cell differentiation involved in immune response (GO:0002294)2.51947289
79phosphatidylethanolamine biosynthetic process (GO:0006646)2.51674373
80negative regulation of humoral immune response (GO:0002921)2.49774508
81positive regulation of macrophage cytokine production (GO:0060907)2.40810062
82negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)2.40716298
83import into cell (GO:0098657)2.40399668
84regulation of interferon-beta biosynthetic process (GO:0045357)2.38926299
85hepatocyte apoptotic process (GO:0097284)2.38119944
86positive regulation of interleukin-8 biosynthetic process (GO:0045416)2.35819694
87regulation of macrophage cytokine production (GO:0010935)2.33951312
88amide biosynthetic process (GO:0043604)2.30618891
89cell differentiation in hindbrain (GO:0021533)2.29762720
90negative regulation of neurotransmitter transport (GO:0051589)2.29589578
91Golgi to endosome transport (GO:0006895)2.28629757
92* monocarboxylic acid biosynthetic process (GO:0072330)2.26742876
93definitive hemopoiesis (GO:0060216)2.26593756
94membrane protein ectodomain proteolysis (GO:0006509)2.26071586
95regulation of sarcomere organization (GO:0060297)2.25744861
96* leukotriene biosynthetic process (GO:0019370)18.5237797
97* leukotriene metabolic process (GO:0006691)12.8548604
98cysteine metabolic process (GO:0006534)11.8986371
99* icosanoid biosynthetic process (GO:0046456)10.1393907
100* fatty acid derivative biosynthetic process (GO:1901570)10.1393907

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.45882164
2FOXP3_17237761_ChIP-ChIP_TREG_Mouse3.19786762
3TAF15_26573619_Chip-Seq_HEK293_Human2.62578053
4SALL1_21062744_ChIP-ChIP_HESCs_Human2.50790119
5BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse2.48635914
6SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.45788380
7GBX2_23144817_ChIP-Seq_PC3_Human2.36103906
8* STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.32203137
9FLI1_27457419_Chip-Seq_LIVER_Mouse2.29873586
10CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.23914119
11TCF4_18268006_ChIP-ChIP_LS174T_Human2.09774518
12GATA1_22025678_ChIP-Seq_K562_Human2.08540543
13SMAD_19615063_ChIP-ChIP_OVARY_Human2.06374012
14ESR1_20079471_ChIP-ChIP_T-47D_Human2.02964693
15POU3F2_20337985_ChIP-ChIP_501MEL_Human2.02305845
16VDR_22108803_ChIP-Seq_LS180_Human1.98213887
17SMAD3_21741376_ChIP-Seq_EPCs_Human1.90361306
18SCL_19346495_ChIP-Seq_HPC-7_Human1.90278326
19STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.86864444
20PCGF2_27294783_Chip-Seq_ESCs_Mouse1.84863365
21RUNX_20019798_ChIP-Seq_JUKART_Human1.73963025
22PCGF2_27294783_Chip-Seq_NPCs_Mouse1.73258061
23SUZ12_27294783_Chip-Seq_NPCs_Mouse1.69428781
24EZH2_22144423_ChIP-Seq_EOC_Human1.69285721
25CBP_20019798_ChIP-Seq_JUKART_Human1.63480152
26IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.63480152
27AR_21572438_ChIP-Seq_LNCaP_Human1.62284870
28TP53_16413492_ChIP-PET_HCT116_Human1.59583602
29SMAD4_21741376_ChIP-Seq_EPCs_Human1.58610039
30TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.58190121
31MYB_21317192_ChIP-Seq_ERMYB_Mouse1.54770650
32VDR_24787735_ChIP-Seq_THP-1_Human1.51535058
33IRF8_22096565_ChIP-ChIP_GC-B_Human1.50082982
34NFE2_27457419_Chip-Seq_LIVER_Mouse1.48693492
35PRDM14_20953172_ChIP-Seq_ESCs_Human1.48612225
36IRF8_21731497_ChIP-ChIP_J774_Mouse1.48359313
37POU5F1_26923725_Chip-Seq_MESODERM_Mouse1.48149471
38TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.48149471
39IRF8_27001747_Chip-Seq_BMDM_Mouse1.46034784
40CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.44947024
41FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.42612524
42GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.42018465
43CDX2_22108803_ChIP-Seq_LS180_Human1.41417820
44MYB_26560356_Chip-Seq_TH2_Human1.40433417
45SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.38152657
46SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.37478930
47EZH2_27294783_Chip-Seq_NPCs_Mouse1.37123993
48OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.35192471
49SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.35042609
50TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.34693271
51NANOG_18555785_Chip-Seq_ESCs_Mouse1.30702988
52IRF1_19129219_ChIP-ChIP_H3396_Human1.30403453
53AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.29071647
54CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.28259259
55RXR_22108803_ChIP-Seq_LS180_Human1.26976826
56P300_19829295_ChIP-Seq_ESCs_Human1.25715228
57E2F1_18555785_Chip-Seq_ESCs_Mouse1.24575498
58ER_23166858_ChIP-Seq_MCF-7_Human1.23542732
59PIAS1_25552417_ChIP-Seq_VCAP_Human1.23530382
60GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.23083515
61EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.21715056
62UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.21322941
63P53_22387025_ChIP-Seq_ESCs_Mouse1.21170846
64SALL4_18804426_ChIP-ChIP_XEN_Mouse1.20748597
65SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.20324814
66CJUN_26792858_Chip-Seq_BT549_Human1.19198993
67AR_21915096_ChIP-Seq_LNCaP-1F5_Human1.18459078
68ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.17970362
69ZFP57_27257070_Chip-Seq_ESCs_Mouse1.17006193
70RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.14812111
71CRX_20693478_ChIP-Seq_RETINA_Mouse1.13885662
72GATA3_26560356_Chip-Seq_TH1_Human1.13221764
73* SMAD4_21799915_ChIP-Seq_A2780_Human1.12634488
74FOXA1_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.12281449
75FOXM1_26456572_ChIP-Seq_MCF-7_Human1.11946761
76FLI1_21867929_ChIP-Seq_TH2_Mouse1.10289699
77P300_18555785_Chip-Seq_ESCs_Mouse1.10207098
78SUZ12_18555785_Chip-Seq_ESCs_Mouse1.09580579
79MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.08493015
80EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.08188992
81DROSHA_22980978_ChIP-Seq_HELA_Human1.07247946
82VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.06015643
83GATA1_19941827_ChIP-Seq_MEL86_Mouse1.05913868
84EGR1_19032775_ChIP-ChIP_M12_Human1.05530414
85STAT3_23295773_ChIP-Seq_U87_Human1.05135062
86OCT4_21477851_ChIP-Seq_ESCs_Mouse1.03669004
87TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.02380681
88CMYC_18555785_Chip-Seq_ESCs_Mouse1.02351676
89STAT3_18555785_Chip-Seq_ESCs_Mouse1.02172292
90SMARCA4_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.01138713
91Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse0.99749254
92OCT4_18555785_Chip-Seq_ESCs_Mouse0.99733622
93PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.98856695
94CTBP2_25329375_ChIP-Seq_LNCAP_Human0.98547414
95TP63_23658742_ChIP-Seq_EP156T_Human0.98364452
96TCF4_22108803_ChIP-Seq_LS180_Human0.96434393
97ZNF217_24962896_ChIP-Seq_MCF-7_Human0.96418738
98TCF12/HEB_22897851_ChIP-Seq_JUKARTE6-1_Human0.95397456
99BCAT_22108803_ChIP-Seq_LS180_Human0.95330506
100GATA3_27048872_Chip-Seq_THYMUS_Human0.93817740

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003183_abnormal_peptide_metabolism8.58315850
2MP0002163_abnormal_gland_morphology5.97407860
3MP0008995_early_reproductive_senescence4.82925003
4MP0005379_endocrine/exocrine_gland_phen4.05575957
5MP0002736_abnormal_nociception_after3.83536662
6MP0002089_abnormal_postnatal_growth/wei3.80539631
7MP0003195_calcinosis3.72554510
8MP0002822_catalepsy3.42580569
9MP0000613_abnormal_salivary_gland3.41636138
10MP0001958_emphysema3.20929352
11MP0000569_abnormal_digit_pigmentation3.09064010
12MP0005220_abnormal_exocrine_pancreas2.82604917
13MP0003300_gastrointestinal_ulcer2.60024700
14MP0001968_abnormal_touch/_nociception2.55912466
15MP0000371_diluted_coat_color2.46607864
16MP0004782_abnormal_surfactant_physiolog2.16478023
17MP0004019_abnormal_vitamin_homeostasis1.59742671
18MP0003656_abnormal_erythrocyte_physiolo1.59069223
19MP0003252_abnormal_bile_duct1.52382402
20MP0000858_altered_metastatic_potential1.49338170
21MP0003724_increased_susceptibility_to1.48067462
22MP0001756_abnormal_urination1.46624139
23MP0002009_preneoplasia1.41497817
24MP0003191_abnormal_cellular_cholesterol1.39801810
25MP0008260_abnormal_autophagy1.33849648
26MP0005388_respiratory_system_phenotype1.31372776
27MP0002133_abnormal_respiratory_system1.31372776
28MP0002277_abnormal_respiratory_mucosa1.25994206
29MP0003786_premature_aging1.23260300
30MP0001835_abnormal_antigen_presentation1.21047845
31MP0005584_abnormal_enzyme/coenzyme_acti1.19885345
32MP0009379_abnormal_foot_pigmentation1.18392298
33MP0003959_abnormal_lean_body1.17785779
34MP0001800_abnormal_humoral_immune1.12906772
35MP0004883_abnormal_blood_vessel1.09432985
36MP0002075_abnormal_coat/hair_pigmentati1.06295471
37MP0009785_altered_susceptibility_to1.05868933
38MP0002166_altered_tumor_susceptibility1.05128883
39MP0001440_abnormal_grooming_behavior1.04434292
40MP0005332_abnormal_amino_acid1.02188424
41MP0005666_abnormal_adipose_tissue1.01097029
42MP0006054_spinal_hemorrhage0.99691131
43MP0010386_abnormal_urinary_bladder0.94092227
44MP0004484_altered_response_of0.93660135
45MP0005171_absent_coat_pigmentation0.92886847
46MP0002733_abnormal_thermal_nociception0.90914261
47MP0003690_abnormal_glial_cell0.90856829
48MP0008057_abnormal_DNA_replication0.88567400
49MP0008872_abnormal_physiological_respon0.88084267
50MP0003828_pulmonary_edema0.87393452
51MP0002723_abnormal_immune_serum0.86916278
52MP0002419_abnormal_innate_immunity0.82649173
53MP0002405_respiratory_system_inflammati0.82068434
54MP0002877_abnormal_melanocyte_morpholog0.81043998
55MP0008877_abnormal_DNA_methylation0.80734198
56MP0001186_pigmentation_phenotype0.79803434
57MP0000716_abnormal_immune_system0.79708426
58MP0002452_abnormal_antigen_presenting0.79015114
59MP0005164_abnormal_response_to0.76639784
60MP0003763_abnormal_thymus_physiology0.75330307
61MP0005025_abnormal_response_to0.74354976
62MP0005375_adipose_tissue_phenotype0.73471911
63MP0001819_abnormal_immune_cell0.72131205
64MP0004043_abnormal_pH_regulation0.71852188
65MP0005085_abnormal_gallbladder_physiolo0.71030576
66MP0002420_abnormal_adaptive_immunity0.70938618
67MP0000689_abnormal_spleen_morphology0.69590589
68MP0005671_abnormal_response_to0.69427171
69MP0005647_abnormal_sex_gland0.67655468
70MP0006082_CNS_inflammation0.67305156
71MP0004142_abnormal_muscle_tone0.66762903
72MP0001663_abnormal_digestive_system0.66489568
73MP0001851_eye_inflammation0.65263992
74MP0005377_hearing/vestibular/ear_phenot0.65251261
75MP0003878_abnormal_ear_physiology0.65251261
76MP0004742_abnormal_vestibular_system0.61578653
77MP0003795_abnormal_bone_structure0.61304302
78MP0000470_abnormal_stomach_morphology0.59939747
79MP0005310_abnormal_salivary_gland0.58865387
80MP0000163_abnormal_cartilage_morphology0.56595341
81MP0002735_abnormal_chemical_nociception0.56479483
82MP0002398_abnormal_bone_marrow0.55771310
83MP0004381_abnormal_hair_follicle0.55740922
84MP0001765_abnormal_ion_homeostasis0.54586650
85MP0005551_abnormal_eye_electrophysiolog0.52339872
86MP0000015_abnormal_ear_pigmentation0.52115700
87MP0008004_abnormal_stomach_pH0.52013725
88MP0002429_abnormal_blood_cell0.50803643
89MP0004264_abnormal_extraembryonic_tissu0.50598357
90MP0001502_abnormal_circadian_rhythm0.49759755
91MP0001790_abnormal_immune_system0.48877957
92MP0005387_immune_system_phenotype0.48877957
93MP0001944_abnormal_pancreas_morphology0.48624375
94MP0001970_abnormal_pain_threshold0.48507724
95MP0002229_neurodegeneration0.47780076
96MP0002115_abnormal_skeleton_extremities0.47456747
97MP0005408_hypopigmentation0.47192493
98MP0002067_abnormal_sensory_capabilities0.46469107
99MP0005000_abnormal_immune_tolerance0.46008283
100MP0003303_peritoneal_inflammation0.45969148

Predicted human phenotypes

RankGene SetZ-score
1Vertebral arch anomaly (HP:0008438)7.40934255
2J-shaped sella turcica (HP:0002680)6.55952963
3Carpal bone hypoplasia (HP:0001498)6.19305358
4Diastasis recti (HP:0001540)6.03336982
5Abnormality of glycolipid metabolism (HP:0010969)6.03336933
6Abnormality of liposaccharide metabolism (HP:0010968)6.03336933
7Abnormality of glycosphingolipid metabolism (HP:0004343)6.03336933
8Thoracolumbar scoliosis (HP:0002944)5.78228668
9Abnormality of the lumbar spine (HP:0100712)5.39562691
10Broad alveolar ridges (HP:0000187)5.22700489
11Broad ribs (HP:0000885)5.19753982
12Flat acetabular roof (HP:0003180)4.89768968
13Aplasia/Hypoplasia involving the carpal bones (HP:0006502)4.39604174
14Thickened calvaria (HP:0002684)4.34174572
15Aortic regurgitation (HP:0001659)4.33360992
16Nonprogressive disorder (HP:0003680)4.30113397
17Thoracic kyphosis (HP:0002942)4.22102240
18Recurrent bronchitis (HP:0002837)4.20395939
19Flared iliac wings (HP:0002869)4.12900138
20Deformed sella turcica (HP:0002681)4.04400435
21Beaking of vertebral bodies (HP:0004568)3.59817152
22Absent/shortened dynein arms (HP:0200106)3.59100413
23Dynein arm defect of respiratory motile cilia (HP:0012255)3.59100413
24Interstitial pulmonary disease (HP:0006530)3.41526487
25Protuberant abdomen (HP:0001538)3.38495739
26Palpebral edema (HP:0100540)3.21368699
27Abnormality of the thoracic spine (HP:0100711)3.11299271
28Urinary glycosaminoglycan excretion (HP:0003541)3.08395576
29Mucopolysacchariduria (HP:0008155)3.08395576
30Genetic anticipation (HP:0003743)3.08285719
31Bronchitis (HP:0012387)2.95187664
32Abnormality of the sella turcica (HP:0002679)2.90138804
33Slow saccadic eye movements (HP:0000514)2.89092971
34Hypoplastic scapulae (HP:0000882)2.87110535
35Aplasia/Hypoplasia of the scapulae (HP:0006713)2.87110535
36Dysostosis multiplex (HP:0000943)2.84732188
37Abnormality of mucopolysaccharide metabolism (HP:0011020)2.83034614
38Abnormality of polysaccharide metabolism (HP:0011012)2.83034614
39Abnormality of glycosaminoglycan metabolism (HP:0004371)2.83034614
40Abnormality of the alveolar ridges (HP:0006477)2.73855459
41Corneal dystrophy (HP:0001131)2.72130910
42Spontaneous hematomas (HP:0007420)2.65885909
43Anomalous pulmonary venous return (HP:0010772)2.62076527
44Hypoplasia of the odontoid process (HP:0003311)2.60599468
45Acne (HP:0001061)2.56520028
46Pathologic fracture (HP:0002756)2.56149345
47Craniofacial hyperostosis (HP:0004493)2.54144547
48Death in childhood (HP:0003819)2.48859387
49Hypoplasia of the fovea (HP:0007750)2.44082503
50Aplasia/Hypoplasia of the fovea (HP:0008060)2.44082503
51Aplasia/Hypoplasia of the macula (HP:0008059)2.41128767
52Hoarse voice (HP:0001609)2.39600055
53Cavernous hemangioma (HP:0001048)2.38156322
54Abnormality of the pulmonary veins (HP:0011718)2.30927889
55Abnormality of the odontoid process (HP:0003310)2.29954755
56Abnormality of the fovea (HP:0000493)2.27996920
57Tongue fasciculations (HP:0001308)2.27829803
58Visual hallucinations (HP:0002367)2.22382850
59Aplasia/Hypoplasia affecting the retina (HP:0008061)2.21191399
60Severe global developmental delay (HP:0011344)2.19605365
61Recurrent pneumonia (HP:0006532)2.17642742
62Lack of skin elasticity (HP:0100679)2.14802162
63Wide intermamillary distance (HP:0006610)2.14753073
64Ovoid vertebral bodies (HP:0003300)2.14287233
65Degeneration of the lateral corticospinal tracts (HP:0002314)2.12807771
66Atrophy/Degeneration involving the corticospinal tracts (HP:0007372)2.12807771
67Cranial hyperostosis (HP:0004437)2.12775143
68Tubulointerstitial fibrosis (HP:0005576)2.08758570
69Muscle fibrillation (HP:0010546)2.07602279
70Abnormal respiratory epithelium morphology (HP:0012253)2.03928142
71Abnormal respiratory motile cilium morphology (HP:0005938)2.03928142
72Clumsiness (HP:0002312)2.02914871
73T lymphocytopenia (HP:0005403)2.02011568
74Abnormal ciliary motility (HP:0012262)1.96257417
75Abnormality of the wing of the ilium (HP:0011867)1.93930630
76Hyperactive renin-angiotensin system (HP:0000841)1.93842355
77Absent rod-and cone-mediated responses on ERG (HP:0007688)1.91373194
78Microcytic anemia (HP:0001935)1.86267856
79Recurrent bacterial skin infections (HP:0005406)1.83561624
80Hypoplasia of the thymus (HP:0000778)1.82367641
81Abnormality of T cell number (HP:0011839)1.80624935
82Recurrent cutaneous fungal infections (HP:0011370)1.80027465
83Chronic mucocutaneous candidiasis (HP:0002728)1.80027465
84Hyperkalemia (HP:0002153)1.76325425
85Parkinsonism with favorable response to dopaminergic medication (HP:0002548)1.75943846
86Gingival bleeding (HP:0000225)1.73571136
87Recurrent lower respiratory tract infections (HP:0002783)1.73468432
88Decreased circulating renin level (HP:0003351)1.73393616
89Widely spaced teeth (HP:0000687)1.72978648
90Conjunctival telangiectasia (HP:0000524)1.65259916
91Recurrent fungal infections (HP:0002841)1.63245744
92Short ribs (HP:0000773)1.59411801
93Central scotoma (HP:0000603)1.59111047
94Abnormality of the corticospinal tract (HP:0002492)1.57979708
95Abnormality of chloride homeostasis (HP:0011422)1.56825777
96Thyroiditis (HP:0100646)1.54636887
97Panhypogammaglobulinemia (HP:0003139)1.54498028
98Fair hair (HP:0002286)1.53973438
99Recurrent otitis media (HP:0000403)1.52382045
100Periorbital edema (HP:0100539)1.52153251

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BLK4.44941712
2MAP3K24.15649578
3CAMKK23.90427336
4FRK3.75975649
5MAP2K32.85889248
6YES12.45156490
7PRPF4B2.29972077
8NTRK32.08834152
9PIK3CG2.02678020
10RIPK41.97527323
11WNK11.90812655
12SGK21.87415051
13IRAK41.77415535
14IRAK11.72457032
15STK38L1.68704937
16DYRK31.67953704
17CAMKK11.66726077
18TXK1.66119179
19MAP3K61.62887202
20IRAK21.58416753
21HIPK21.56979187
22CAMK41.56927297
23TGFBR21.54715247
24GRK51.52339036
25GRK61.52012470
26IKBKE1.45456585
27NLK1.43455504
28SGK4941.39881888
29SGK2231.39881888
30MAP3K31.39321943
31CDK61.37573127
32FGR1.32502702
33MAP3K71.29842928
34MAP3K51.29396659
35PTK2B1.25482039
36FGFR31.24002202
37PIM11.20567008
38NEK91.19190331
39EPHA31.17307637
40GRK71.10692763
41SYK1.07138770
42LATS11.05999349
43SGK31.05822242
44TYK21.05199291
45DYRK1B1.04725004
46MAP2K61.01915086
47ACVR1B0.99723499
48BMPR20.99245496
49MST40.97743808
50MELK0.96353728
51FES0.95054308
52MAP3K130.92770010
53RPS6KA60.89185606
54UHMK10.89064272
55RPS6KA40.88808863
56TAOK30.87827288
57ZAP700.87713963
58TEC0.87145467
59BRSK20.81048876
60LYN0.80435222
61RET0.79984244
62ADRBK10.76590201
63JAK20.76126318
64SGK10.75800190
65MAP3K10.74452601
66BRD40.70430177
67CSK0.68752857
68JAK10.66199240
69WNK40.64867049
70MATK0.62560243
71RPS6KL10.62024510
72RPS6KC10.62024510
73STK40.60354052
74IKBKB0.60169298
75PDK10.57676026
76NTRK20.56017856
77KSR10.54930263
78PKN20.54743271
79ICK0.53660951
80PLK20.53335281
81LRRK20.48814550
82KSR20.48523385
83LCK0.47346906
84HCK0.46156220
85EPHB10.45508919
86MAP4K10.45483433
87KIT0.45222887
88STK240.44791133
89MAP2K40.44113161
90STK110.43883481
91DYRK1A0.42204328
92RPS6KB20.42099569
93TAF10.39531829
94ADRBK20.37405208
95PDPK10.36362920
96CHUK0.34576785
97TSSK60.32811073
98CLK10.30497188
99ITK0.29717332
100MARK30.28319354

Predicted pathways (KEGG)

RankGene SetZ-score
1Taurine and hypotaurine metabolism_Homo sapiens_hsa004306.64887453
2Cyanoamino acid metabolism_Homo sapiens_hsa0046010.4047914
3B cell receptor signaling pathway_Homo sapiens_hsa046621.51593267
4Renin secretion_Homo sapiens_hsa049241.48476803
5Arachidonic acid metabolism_Homo sapiens_hsa005901.48029240
6Amphetamine addiction_Homo sapiens_hsa050311.45514554
7Taste transduction_Homo sapiens_hsa047421.42630813
8T cell receptor signaling pathway_Homo sapiens_hsa046601.41272005
9Maturity onset diabetes of the young_Homo sapiens_hsa049501.39930681
10Leishmaniasis_Homo sapiens_hsa051401.37129372
11VEGF signaling pathway_Homo sapiens_hsa043701.34179696
12Staphylococcus aureus infection_Homo sapiens_hsa051501.32352958
13Osteoclast differentiation_Homo sapiens_hsa043801.27675863
14Long-term potentiation_Homo sapiens_hsa047201.21737634
15Toll-like receptor signaling pathway_Homo sapiens_hsa046201.20374797
16Tuberculosis_Homo sapiens_hsa051521.17896527
17Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046501.09736018
18Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.07639522
19Graft-versus-host disease_Homo sapiens_hsa053320.97979803
20Dorso-ventral axis formation_Homo sapiens_hsa043200.97018528
21Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049610.91979308
22Malaria_Homo sapiens_hsa051440.88099903
23Nicotine addiction_Homo sapiens_hsa050330.88048367
24Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.87593787
25Toxoplasmosis_Homo sapiens_hsa051450.80405198
26Glutamatergic synapse_Homo sapiens_hsa047240.75004967
27Glutathione metabolism_Homo sapiens_hsa004800.73538422
28TNF signaling pathway_Homo sapiens_hsa046680.73117674
29Intestinal immune network for IgA production_Homo sapiens_hsa046720.70560427
30Non-small cell lung cancer_Homo sapiens_hsa052230.68381730
31NF-kappa B signaling pathway_Homo sapiens_hsa040640.65556004
32Autoimmune thyroid disease_Homo sapiens_hsa053200.64116671
33Lysosome_Homo sapiens_hsa041420.63173723
34Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.62512850
35Pertussis_Homo sapiens_hsa051330.61617902
36Morphine addiction_Homo sapiens_hsa050320.61596271
37Serotonergic synapse_Homo sapiens_hsa047260.60341478
38GnRH signaling pathway_Homo sapiens_hsa049120.59886107
39Ovarian steroidogenesis_Homo sapiens_hsa049130.59181987
40Phagosome_Homo sapiens_hsa041450.58970796
41Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.58893248
42NOD-like receptor signaling pathway_Homo sapiens_hsa046210.57833349
43Allograft rejection_Homo sapiens_hsa053300.57680996
44Cocaine addiction_Homo sapiens_hsa050300.56624374
45Platelet activation_Homo sapiens_hsa046110.56187382
46Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.55708791
47Oxytocin signaling pathway_Homo sapiens_hsa049210.55502773
48Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.55403352
49Steroid hormone biosynthesis_Homo sapiens_hsa001400.54974793
50cGMP-PKG signaling pathway_Homo sapiens_hsa040220.53366843
51Influenza A_Homo sapiens_hsa051640.53147396
52Asthma_Homo sapiens_hsa053100.52717983
53MAPK signaling pathway_Homo sapiens_hsa040100.52428666
54Chemokine signaling pathway_Homo sapiens_hsa040620.52131156
55Inositol phosphate metabolism_Homo sapiens_hsa005620.51526165
56GABAergic synapse_Homo sapiens_hsa047270.51019166
57Antigen processing and presentation_Homo sapiens_hsa046120.50698901
58Glycerophospholipid metabolism_Homo sapiens_hsa005640.49955373
59Prolactin signaling pathway_Homo sapiens_hsa049170.47766754
60Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.45707358
61Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.45233756
62Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.45215618
63Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.45199072
64Vascular smooth muscle contraction_Homo sapiens_hsa042700.43598553
65Wnt signaling pathway_Homo sapiens_hsa043100.43417862
66Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.43358196
67Complement and coagulation cascades_Homo sapiens_hsa046100.42908386
68Circadian rhythm_Homo sapiens_hsa047100.41982067
69Phosphatidylinositol signaling system_Homo sapiens_hsa040700.41155321
70Salivary secretion_Homo sapiens_hsa049700.40679402
71Cholinergic synapse_Homo sapiens_hsa047250.40574926
72Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.40572506
73Regulation of autophagy_Homo sapiens_hsa041400.39891594
74Axon guidance_Homo sapiens_hsa043600.39819430
75Leukocyte transendothelial migration_Homo sapiens_hsa046700.39626039
76RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.39579025
77Chronic myeloid leukemia_Homo sapiens_hsa052200.39159795
78Neurotrophin signaling pathway_Homo sapiens_hsa047220.39077758
79Rheumatoid arthritis_Homo sapiens_hsa053230.38991664
80Glucagon signaling pathway_Homo sapiens_hsa049220.37472050
81Measles_Homo sapiens_hsa051620.37135070
82cAMP signaling pathway_Homo sapiens_hsa040240.36562009
83Fatty acid biosynthesis_Homo sapiens_hsa000610.36432543
84ABC transporters_Homo sapiens_hsa020100.36028506
85Butirosin and neomycin biosynthesis_Homo sapiens_hsa005240.35584984
86Hepatitis C_Homo sapiens_hsa051600.35013901
87Estrogen signaling pathway_Homo sapiens_hsa049150.34361043
88Type I diabetes mellitus_Homo sapiens_hsa049400.33257880
89FoxO signaling pathway_Homo sapiens_hsa040680.32974897
90SNARE interactions in vesicular transport_Homo sapiens_hsa041300.32757031
91Jak-STAT signaling pathway_Homo sapiens_hsa046300.32322869
92Carbohydrate digestion and absorption_Homo sapiens_hsa049730.31893192
93Calcium signaling pathway_Homo sapiens_hsa040200.31861608
94Primary immunodeficiency_Homo sapiens_hsa053400.31840549
95AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.31452030
96Ether lipid metabolism_Homo sapiens_hsa005650.30868829
97Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.30436786
98Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.28861696
99Aldosterone synthesis and secretion_Homo sapiens_hsa049250.27075057
100Prostate cancer_Homo sapiens_hsa052150.26111695

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