GGTLC2

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 protein related to enzymes that cleaves gamma-glutamyl peptide bonds in glutathione and other peptides. Unlike similar proteins, the encoded protein contains only the light chain portion and may not have catalytic activity. Alternative splicing results in multiple transcript variants. There are several related family members and related pseudogene for this gene situated in the same region of chromosome 22. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1* icosanoid biosynthetic process (GO:0046456)9.05303069
2* fatty acid derivative biosynthetic process (GO:1901570)9.05303069
3mitochondrion distribution (GO:0048311)8.78885064
4detection of molecule of bacterial origin (GO:0032490)8.19079363
5peptide catabolic process (GO:0043171)7.67799303
6* unsaturated fatty acid biosynthetic process (GO:0006636)7.52611291
7mitochondrial calcium ion transport (GO:0006851)7.40463194
8* glutathione metabolic process (GO:0006749)7.29323024
9microglial cell activation (GO:0001774)6.46114874
10modulation by organism of defense response of other organism involved in symbiotic interaction (GO:05.57963465
11positive regulation by organism of defense response of other organism involved in symbiotic interact5.57963465
12modulation by symbiont of host immune response (GO:0052553)5.57963465
13positive regulation by symbiont of host defense response (GO:0052509)5.57963465
14modulation by symbiont of host defense response (GO:0052031)5.57963465
15modulation by organism of immune response of other organism involved in symbiotic interaction (GO:005.57963465
16neuronal action potential (GO:0019228)5.42264261
17regulation of interleukin-6 biosynthetic process (GO:0045408)5.12839719
18protein ADP-ribosylation (GO:0006471)5.08167781
19positive regulation of tumor necrosis factor biosynthetic process (GO:0042535)4.85402968
20* fatty acid derivative metabolic process (GO:1901568)4.80170207
21* icosanoid metabolic process (GO:0006690)4.80170207
22serine family amino acid biosynthetic process (GO:0009070)4.80133710
23macrophage activation involved in immune response (GO:0002281)4.60596933
24regulation of tumor necrosis factor biosynthetic process (GO:0042534)4.59026926
25cerebellar Purkinje cell differentiation (GO:0021702)4.55120141
26cell communication involved in cardiac conduction (GO:0086065)4.54615251
27macrophage activation (GO:0042116)4.49094326
28glutathione biosynthetic process (GO:0006750)4.47429802
29regulation of catecholamine uptake involved in synaptic transmission (GO:0051940)4.44542300
30regulation of dopamine uptake involved in synaptic transmission (GO:0051584)4.44542300
31* unsaturated fatty acid metabolic process (GO:0033559)4.10738874
32cilium or flagellum-dependent cell motility (GO:0001539)4.10130455
33cellular modified amino acid catabolic process (GO:0042219)4.07494349
34nonribosomal peptide biosynthetic process (GO:0019184)4.05774119
35prenylation (GO:0097354)3.89549622
36protein prenylation (GO:0018342)3.89549622
37response to host immune response (GO:0052572)3.88612542
38response to immune response of other organism involved in symbiotic interaction (GO:0052564)3.88612542
39response to host (GO:0075136)3.72615046
40response to host defenses (GO:0052200)3.72615046
41response to defenses of other organism involved in symbiotic interaction (GO:0052173)3.72615046
42detection of external biotic stimulus (GO:0098581)3.70513512
43membrane depolarization during action potential (GO:0086010)3.67925937
44peristalsis (GO:0030432)3.62827672
45dopamine transport (GO:0015872)3.61135080
46regulation of membrane depolarization (GO:0003254)3.59646325
47androgen biosynthetic process (GO:0006702)3.59052782
48negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)3.51143265
49glutamate metabolic process (GO:0006536)3.40742360
50* fatty acid biosynthetic process (GO:0006633)3.32009396
51regulation of neurotransmitter uptake (GO:0051580)3.29669237
52hepatocyte apoptotic process (GO:0097284)3.25083850
53epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)3.24223248
54neural tube formation (GO:0001841)3.23743628
55mitochondrion localization (GO:0051646)3.12082428
56adult feeding behavior (GO:0008343)3.10103254
57detection of biotic stimulus (GO:0009595)3.07784223
58* peptide metabolic process (GO:0006518)3.02274188
59histone H3-K36 demethylation (GO:0070544)2.99088689
60epithelial cilium movement (GO:0003351)2.96172310
61positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.90066563
62sulfur amino acid biosynthetic process (GO:0000097)2.81526394
63regulation of cardiac muscle contraction (GO:0055117)2.79624075
64I-kappaB phosphorylation (GO:0007252)2.76363175
65T-helper 1 type immune response (GO:0042088)2.76272995
66peptide biosynthetic process (GO:0043043)2.74029408
67phosphatidylethanolamine biosynthetic process (GO:0006646)2.73778632
68male genitalia development (GO:0030539)2.73732151
69protein targeting to lysosome (GO:0006622)2.71096926
70establishment of protein localization to vacuole (GO:0072666)2.71096926
71protein targeting to vacuole (GO:0006623)2.71096926
72definitive hemopoiesis (GO:0060216)2.70037936
73sensory perception of pain (GO:0019233)2.69632801
74behavioral response to cocaine (GO:0048148)2.62566498
75behavioral response to nicotine (GO:0035095)2.59233017
76growth hormone secretion (GO:0030252)2.58114381
77phosphatidylethanolamine metabolic process (GO:0046337)2.49142772
78phospholipase C-activating dopamine receptor signaling pathway (GO:0060158)2.47761568
79regulation of synaptic transmission, dopaminergic (GO:0032225)2.45871493
80phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)2.45629436
81regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)2.45469122
82protein K11-linked deubiquitination (GO:0035871)2.45445898
83negative regulation of interleukin-1 beta production (GO:0032691)2.45028392
84glutathione derivative metabolic process (GO:1901685)2.44901116
85glutathione derivative biosynthetic process (GO:1901687)2.44901116
86cell differentiation in hindbrain (GO:0021533)2.43941688
87synaptic transmission, dopaminergic (GO:0001963)2.43243662
88gamma-aminobutyric acid signaling pathway (GO:0007214)2.39108145
89cilium movement (GO:0003341)2.38503474
90urate metabolic process (GO:0046415)2.38421573
91serine family amino acid metabolic process (GO:0009069)2.38311531
92glycerol metabolic process (GO:0006071)2.37837394
93parental behavior (GO:0060746)2.36947350
94response to acidic pH (GO:0010447)2.36577383
95positive regulation of granulocyte differentiation (GO:0030854)2.36336326
96* leukotriene biosynthetic process (GO:0019370)17.1582868
97regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)14.6252775
98bundle of His cell to Purkinje myocyte communication (GO:0086069)13.1937435
99* leukotriene metabolic process (GO:0006691)11.8711661
100cysteine metabolic process (GO:0006534)11.5394536

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1VDR_22108803_ChIP-Seq_LS180_Human2.92555431
2GBX2_23144817_ChIP-Seq_PC3_Human2.92101245
3TAF15_26573619_Chip-Seq_HEK293_Human2.56786635
4STAT6_20620947_ChIP-Seq_CD4_POS_T_Human2.55869357
5TEAD4_26923725_Chip-Seq_HEMANGIOBLAST_Mouse2.36529008
6POU5F1_26923725_Chip-Seq_MESODERM_Mouse2.36529008
7CEBPD_23245923_ChIP-Seq_MEFs_Mouse2.34444284
8FLI1_27457419_Chip-Seq_LIVER_Mouse2.25925174
9POU3F2_20337985_ChIP-ChIP_501MEL_Human2.25395189
10TAL1_26923725_Chip-Seq_MACROPHAGESS_Mouse2.25364496
11FOXP3_17237761_ChIP-ChIP_TREG_Mouse2.16495409
12SALL1_21062744_ChIP-ChIP_HESCs_Human2.00219383
13PCGF2_27294783_Chip-Seq_NPCs_Mouse1.99662812
14TCF4_18268006_ChIP-ChIP_LS174T_Human1.98932118
15PCGF2_27294783_Chip-Seq_ESCs_Mouse1.98132962
16CBP_20019798_ChIP-Seq_JUKART_Human1.95950766
17IRF4_20064451_ChIP-Seq_CD4+T_Mouse1.95950766
18CTBP2_25329375_ChIP-Seq_LNCAP_Human1.94623989
19FUS_26573619_Chip-Seq_HEK293_Human1.90590212
20ER_23166858_ChIP-Seq_MCF-7_Human1.88811854
21SMARCD1_25818293_ChIP-Seq_ESCs_Mouse1.78698775
22ARNT_22903824_ChIP-Seq_MCF-7_Human1.77629184
23* SMAD3_21741376_ChIP-Seq_EPCs_Human1.74375717
24RUNX_20019798_ChIP-Seq_JUKART_Human1.74296978
25STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.72652954
26* P300_19829295_ChIP-Seq_ESCs_Human1.69510474
27UBF1/2_26484160_Chip-Seq_FIBROBLAST_Human1.67602861
28SUZ12_27294783_Chip-Seq_NPCs_Mouse1.66122212
29* SMAD4_21741376_ChIP-Seq_EPCs_Human1.65466487
30ZFP57_27257070_Chip-Seq_ESCs_Mouse1.64025404
31EWS-ERG_20517297_ChIP-Seq_CADO-ES1_Human1.63735515
32CDX2_22108803_ChIP-Seq_LS180_Human1.63514810
33SMRT_27268052_Chip-Seq_Bcells_Human1.59559356
34AR_21572438_ChIP-Seq_LNCaP_Human1.58755334
35AR_22383394_ChIP-Seq_PROSTATE_CANCER_Human1.58083015
36CTBP1_25329375_ChIP-Seq_LNCAP_Human1.55937725
37EZH2_22144423_ChIP-Seq_EOC_Human1.50840584
38IRF1_19129219_ChIP-ChIP_H3396_Human1.50638077
39* SMAD2/3_21741376_ChIP-Seq_EPCs_Human1.50340037
40OLIG2_23332759_ChIP-Seq_OLIGODENDROCYTES_Mouse1.50292903
41NFE2_27457419_Chip-Seq_LIVER_Mouse1.49911144
42IRF8_22096565_ChIP-ChIP_GC-B_Human1.49643751
43SMAD4_21799915_ChIP-Seq_A2780_Human1.48606012
44OCT1_27270436_Chip-Seq_PROSTATE_Human1.47442355
45DROSHA_22980978_ChIP-Seq_HELA_Human1.47325796
46RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.44374991
47STAT3_23295773_ChIP-Seq_U87_Human1.43789224
48NANOG_18555785_Chip-Seq_ESCs_Mouse1.43007770
49SMAD_19615063_ChIP-ChIP_OVARY_Human1.42920762
50TCFCP2L1_18555785_Chip-Seq_ESCs_Mouse1.41573605
51* PRDM14_20953172_ChIP-Seq_ESCs_Human1.40433211
52RUNX2_22187159_ChIP-Seq_PCA_Human1.37116848
53TP53_16413492_ChIP-PET_HCT116_Human1.34287727
54BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.33594404
55VDR_20736230_ChIP-Seq_LYMPHOBLASTOID_Human1.32050867
56NANOG_19829295_ChIP-Seq_ESCs_Human1.31666364
57SOX2_19829295_ChIP-Seq_ESCs_Human1.31666364
58BCAT_22108803_ChIP-Seq_LS180_Human1.31640374
59EZH2_27294783_Chip-Seq_NPCs_Mouse1.30453724
60MYCN_21190229_ChIP-Seq_SHEP-21N_Human1.30095201
61GATA2_26923725_Chip-Seq_HEMANGIOBLAST_Mouse1.28909798
62* AR_25329375_ChIP-Seq_VCAP_Human1.27612998
63EBF1_22473956_ChIP-Seq_BONE_MARROW_Mouse1.26904734
64VDR_24787735_ChIP-Seq_THP-1_Human1.23332246
65TOP2B_26459242_ChIP-Seq_MCF-7_Human1.22399879
66ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.21912704
67CDX2_21402776_ChIP-Seq_INTESTINAL-VILLUS_Mouse1.21570118
68TCF4_23295773_ChIP-Seq_U87_Human1.20849507
69FLI1_21867929_ChIP-Seq_TH2_Mouse1.19016609
70TCF4_22108803_ChIP-Seq_LS180_Human1.18961921
71* GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.18847827
72CJUN_26792858_Chip-Seq_BT549_Human1.18607356
73PAX3-FKHR_20663909_ChIP-Seq_RHABDOMYOSARCOMA_Human1.17811069
74P53_22387025_ChIP-Seq_ESCs_Mouse1.16447578
75E2F1_18555785_Chip-Seq_ESCs_Mouse1.16202492
76OCT4_20526341_ChIP-Seq_ESCs_Human1.15430007
77TP63_23658742_ChIP-Seq_EP156T_Human1.12540850
78GATA3_26560356_Chip-Seq_TH1_Human1.11308557
79STAT3_18555785_Chip-Seq_ESCs_Mouse1.11067565
80FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.08955650
81EBF1_22473956_ChIP-Seq_LYMPHODE_Mouse1.06476899
82EWS-FLI1_20517297_ChIP-Seq_SK-N-MC_Human1.06277302
83NR3C1_21868756_ChIP-Seq_MCF10A_Human1.06048281
84TAL1_21186366_ChIP-Seq_BM-HSCs_Mouse1.05693092
85P300_18555785_Chip-Seq_ESCs_Mouse1.05687220
86GLI1_17442700_ChIP-ChIP_MESCs_Mouse1.05616351
87GATA1_22025678_ChIP-Seq_K562_Human1.04096350
88EWS_26573619_Chip-Seq_HEK293_Human1.03748022
89CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.03375239
90SUZ12_18555785_Chip-Seq_ESCs_Mouse1.02498139
91MEIS1_26253404_ChIP-Seq_OPTIC_CUPS_Mouse1.02409736
92SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse1.02299699
93ETV2_25802403_ChIP-Seq_MESCs_Mouse1.01683080
94SOX9_22984422_ChIP-ChIP_TESTIS_Rat1.00474842
95GATA1_19941827_ChIP-Seq_MEL86_Mouse0.99762732
96MYB_26560356_Chip-Seq_TH2_Human0.99730434
97NR3C1_23031785_ChIP-Seq_PC12_Mouse0.98759937
98ZNF217_24962896_ChIP-Seq_MCF-7_Human0.98399281
99PIAS1_25552417_ChIP-Seq_VCAP_Human0.98017660
100ZFP322A_24550733_ChIP-Seq_MESCs_Mouse0.97583365

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0000569_abnormal_digit_pigmentation6.89449845
2MP0002736_abnormal_nociception_after6.38961877
3MP0003183_abnormal_peptide_metabolism6.28057925
4MP0002822_catalepsy5.38800911
5MP0001968_abnormal_touch/_nociception4.50312545
6MP0002163_abnormal_gland_morphology4.45879009
7MP0000613_abnormal_salivary_gland3.69203216
8MP0003195_calcinosis3.68022195
9MP0002089_abnormal_postnatal_growth/wei3.26831600
10MP0005379_endocrine/exocrine_gland_phen3.06986929
11MP0005220_abnormal_exocrine_pancreas2.95297247
12MP0000371_diluted_coat_color2.82751570
13MP0008995_early_reproductive_senescence2.82551312
14MP0005174_abnormal_tail_pigmentation2.67320989
15MP0000015_abnormal_ear_pigmentation2.35699032
16MP0000858_altered_metastatic_potential1.97508301
17MP0008877_abnormal_DNA_methylation1.93056628
18MP0003136_yellow_coat_color1.89678741
19MP0003300_gastrointestinal_ulcer1.80730986
20MP0005410_abnormal_fertilization1.74789315
21MP0002733_abnormal_thermal_nociception1.65242011
22MP0009379_abnormal_foot_pigmentation1.57432406
23MP0002075_abnormal_coat/hair_pigmentati1.50449466
24MP0005408_hypopigmentation1.39751016
25MP0002877_abnormal_melanocyte_morpholog1.30414752
26MP0002928_abnormal_bile_duct1.27571995
27MP0001502_abnormal_circadian_rhythm1.24047463
28MP0001186_pigmentation_phenotype1.21100205
29MP0003172_abnormal_lysosome_physiology1.20980418
30MP0003252_abnormal_bile_duct1.09704112
31MP0005551_abnormal_eye_electrophysiolog1.04208335
32MP0005584_abnormal_enzyme/coenzyme_acti1.03907915
33MP0001970_abnormal_pain_threshold1.01760266
34MP0001663_abnormal_digestive_system1.01216807
35MP0002095_abnormal_skin_pigmentation1.00998287
36MP0003698_abnormal_male_reproductive1.00948494
37MP0004381_abnormal_hair_follicle0.97783892
38MP0002277_abnormal_respiratory_mucosa0.96833716
39MP0001835_abnormal_antigen_presentation0.95424508
40MP0002067_abnormal_sensory_capabilities0.93178407
41MP0000470_abnormal_stomach_morphology0.90864646
42MP0001929_abnormal_gametogenesis0.90542045
43MP0005409_darkened_coat_color0.90168791
44MP0003786_premature_aging0.86961101
45MP0005075_abnormal_melanosome_morpholog0.86077204
46MP0003656_abnormal_erythrocyte_physiolo0.85783278
47MP0003787_abnormal_imprinting0.85664332
48MP0002638_abnormal_pupillary_reflex0.85236532
49MP0003959_abnormal_lean_body0.84598292
50MP0005187_abnormal_penis_morphology0.82205070
51MP0002272_abnormal_nervous_system0.81384879
52MP0000372_irregular_coat_pigmentation0.81330823
53MP0005171_absent_coat_pigmentation0.80826064
54MP0004484_altered_response_of0.79690166
55MP0002138_abnormal_hepatobiliary_system0.78708465
56MP0005310_abnormal_salivary_gland0.77840134
57MP0004142_abnormal_muscle_tone0.76564459
58MP0001800_abnormal_humoral_immune0.75814797
59MP0001958_emphysema0.73239272
60MP0005670_abnormal_white_adipose0.71293098
61MP0003724_increased_susceptibility_to0.68580265
62MP0004130_abnormal_muscle_cell0.67933650
63MP0005332_abnormal_amino_acid0.66662039
64MP0001944_abnormal_pancreas_morphology0.66143847
65MP0000427_abnormal_hair_cycle0.65041195
66MP0002090_abnormal_vision0.61838440
67MP0004742_abnormal_vestibular_system0.61621927
68MP0008057_abnormal_DNA_replication0.61178246
69MP0004885_abnormal_endolymph0.61108945
70MP0000653_abnormal_sex_gland0.60410264
71MP0001145_abnormal_male_reproductive0.59719281
72MP0002735_abnormal_chemical_nociception0.59544753
73MP0004147_increased_porphyrin_level0.58895417
74MP0002166_altered_tumor_susceptibility0.55768006
75MP0002009_preneoplasia0.52861663
76MP0004043_abnormal_pH_regulation0.51624813
77MP0003828_pulmonary_edema0.51249279
78MP0005671_abnormal_response_to0.49905239
79MP0009785_altered_susceptibility_to0.49858623
80MP0002723_abnormal_immune_serum0.49384536
81MP0000689_abnormal_spleen_morphology0.49177188
82MP0009764_decreased_sensitivity_to0.48113422
83MP0002229_neurodegeneration0.47967559
84MP0001119_abnormal_female_reproductive0.47417781
85MP0010386_abnormal_urinary_bladder0.46642713
86MP0005381_digestive/alimentary_phenotyp0.46531475
87MP0002132_abnormal_respiratory_system0.44120432
88MP0001919_abnormal_reproductive_system0.44106288
89MP0004883_abnormal_blood_vessel0.43898248
90MP0004924_abnormal_behavior0.43553382
91MP0005386_behavior/neurological_phenoty0.43553382
92MP0009745_abnormal_behavioral_response0.42021843
93MP0006082_CNS_inflammation0.41975597
94MP0005389_reproductive_system_phenotype0.41746017
95MP0000716_abnormal_immune_system0.40817037
96MP0000631_abnormal_neuroendocrine_gland0.40553348
97MP0002405_respiratory_system_inflammati0.40528933
98MP0002109_abnormal_limb_morphology0.40121435
99MP0002210_abnormal_sex_determination0.39930019
100MP0003191_abnormal_cellular_cholesterol0.39660139

Predicted human phenotypes

RankGene SetZ-score
1Dynein arm defect of respiratory motile cilia (HP:0012255)6.36827705
2Absent/shortened dynein arms (HP:0200106)6.36827705
3Diastasis recti (HP:0001540)5.61634360
4Thoracolumbar scoliosis (HP:0002944)5.21957619
5Vertebral arch anomaly (HP:0008438)5.17781391
6Abnormality of liposaccharide metabolism (HP:0010968)5.10738100
7Abnormality of glycosphingolipid metabolism (HP:0004343)5.10738100
8Abnormality of glycolipid metabolism (HP:0010969)5.10738100
9J-shaped sella turcica (HP:0002680)5.03673689
10Carpal bone hypoplasia (HP:0001498)4.97788076
11Broad ribs (HP:0000885)4.15103203
12Aplasia/Hypoplasia involving the carpal bones (HP:0006502)4.04548731
13Flat acetabular roof (HP:0003180)3.84007720
14Abnormal respiratory epithelium morphology (HP:0012253)3.62462235
15Abnormal respiratory motile cilium morphology (HP:0005938)3.62462235
16Nonprogressive disorder (HP:0003680)3.58846770
17Abnormal ciliary motility (HP:0012262)3.51887783
18Deformed sella turcica (HP:0002681)3.51089760
19Flared iliac wings (HP:0002869)3.50325145
20Broad alveolar ridges (HP:0000187)3.47964752
21Aortic regurgitation (HP:0001659)3.41008246
22Abnormality of the lumbar spine (HP:0100712)3.31313246
23Palpebral edema (HP:0100540)3.29080454
24Recurrent bronchitis (HP:0002837)3.23219219
25Severe visual impairment (HP:0001141)3.22266318
26Protuberant abdomen (HP:0001538)3.16934321
27Clumsiness (HP:0002312)3.15512636
28Abnormal respiratory motile cilium physiology (HP:0012261)3.04417293
29Hyperkalemia (HP:0002153)2.99440551
30Abnormality of the sella turcica (HP:0002679)2.88973005
31Thickened calvaria (HP:0002684)2.76957193
32Bronchitis (HP:0012387)2.72095332
33Pancreatic cysts (HP:0001737)2.67663519
34Parkinsonism with favorable response to dopaminergic medication (HP:0002548)2.65239204
35Tongue fasciculations (HP:0001308)2.59083609
36Fair hair (HP:0002286)2.55799066
37Chronic hepatic failure (HP:0100626)2.49095383
38Beaking of vertebral bodies (HP:0004568)2.47087817
39Aplasia/Hypoplasia of the scapulae (HP:0006713)2.44412031
40Hypoplastic scapulae (HP:0000882)2.44412031
41Genetic anticipation (HP:0003743)2.43433927
42Severe global developmental delay (HP:0011344)2.42913322
43Thoracic kyphosis (HP:0002942)2.41609122
44Infertility (HP:0000789)2.41267800
45Tubular atrophy (HP:0000092)2.40418273
46Pancreatic fibrosis (HP:0100732)2.38888706
47Male pseudohermaphroditism (HP:0000037)2.36919979
48Muscle fibrillation (HP:0010546)2.35099328
49Generalized hypopigmentation of hair (HP:0011358)2.34895815
50True hermaphroditism (HP:0010459)2.30971954
51Spontaneous hematomas (HP:0007420)2.29440764
52Cone-rod dystrophy (HP:0000548)2.27154506
53Recurrent cutaneous fungal infections (HP:0011370)2.26640126
54Chronic mucocutaneous candidiasis (HP:0002728)2.26640126
55Tubulointerstitial nephritis (HP:0001970)2.24801704
56Facial diplegia (HP:0001349)2.24347160
57Hypoplasia of the odontoid process (HP:0003311)2.21412325
58Abnormality of the wing of the ilium (HP:0011867)2.21113148
59Aplasia/Hypoplasia of the macula (HP:0008059)2.19565378
60Hoarse voice (HP:0001609)2.18683581
61Abnormality of chloride homeostasis (HP:0011422)2.18634810
62Urinary glycosaminoglycan excretion (HP:0003541)2.18523017
63Mucopolysacchariduria (HP:0008155)2.18523017
64Peritonitis (HP:0002586)2.17413810
65Recurrent pneumonia (HP:0006532)2.12543151
66Albinism (HP:0001022)2.11831571
67Hyperactive renin-angiotensin system (HP:0000841)2.10823302
68Decreased circulating renin level (HP:0003351)2.08698637
69Abnormality of mucopolysaccharide metabolism (HP:0011020)2.08453414
70Abnormality of polysaccharide metabolism (HP:0011012)2.08453414
71Abnormality of glycosaminoglycan metabolism (HP:0004371)2.08453414
72Corneal dystrophy (HP:0001131)2.06935678
73Death in childhood (HP:0003819)2.04845674
74Hip dysplasia (HP:0001385)2.03686356
75Tubulointerstitial abnormality (HP:0001969)2.02289185
76Attenuation of retinal blood vessels (HP:0007843)1.99477041
77Dysostosis multiplex (HP:0000943)1.99334860
78Aplasia/Hypoplasia affecting the retina (HP:0008061)1.99329007
79Chronic bronchitis (HP:0004469)1.97733314
80Abnormality of the odontoid process (HP:0003310)1.97699027
81Gaze-evoked nystagmus (HP:0000640)1.96115862
82Hypokalemic alkalosis (HP:0001949)1.95239994
83Cystic liver disease (HP:0006706)1.92215808
84Craniofacial hyperostosis (HP:0004493)1.91760612
85Cavernous hemangioma (HP:0001048)1.88695383
86Portal hypertension (HP:0001409)1.87902391
87Wide intermamillary distance (HP:0006610)1.85340190
88Gingival bleeding (HP:0000225)1.83172644
89Aplasia/Hypoplasia of the fovea (HP:0008060)1.82243578
90Hypoplasia of the fovea (HP:0007750)1.82243578
91Recurrent fungal infections (HP:0002841)1.81022281
92Hypoplastic iliac wings (HP:0002866)1.80478927
93Gastrointestinal infarctions (HP:0005244)1.79840315
94Widely spaced teeth (HP:0000687)1.77904053
95Nephronophthisis (HP:0000090)1.75241729
96Postural instability (HP:0002172)1.74868448
97Abnormality of the renal medulla (HP:0100957)1.73596466
98Abnormality of the hepatic vasculature (HP:0006707)1.73514978
99Spontaneous abortion (HP:0005268)1.73004870
100Hypoplasia of the thymus (HP:0000778)1.71480202

Predicted kinase interactions (KEA)

RankGene SetZ-score
1BLK5.54351594
2FRK4.32228939
3MAP3K23.69539665
4PIK3CG3.46117311
5MAP2K32.59724948
6MAPK152.52680062
7TAOK32.51922819
8IRAK42.48792694
9ACVR1B2.31444298
10STK38L2.11515583
11ADRBK22.02090768
12GRK51.90192284
13IRAK21.87835671
14NTRK31.86468873
15SGK21.76421980
16BRD41.75149039
17PTK2B1.73344122
18CAMKK21.66735036
19IKBKE1.63590552
20IRAK11.57850409
21YES11.56383534
22GRK61.55633782
23MAP3K31.52243421
24DYRK31.50175533
25FGR1.48582317
26NEK91.47751448
27GRK71.45055036
28PNCK1.36459716
29PLK21.34935599
30KSR21.24010110
31SGK4941.19975263
32SGK2231.19975263
33RPS6KA41.16350392
34MAP3K51.14307920
35TGFBR21.11152337
36MAP3K71.08238107
37TXK1.06820482
38STK241.04936802
39MAP3K11.01831497
40SYK1.00761008
41NLK0.99594284
42ADRBK10.98273908
43MAP2K60.96906710
44RAF10.95911853
45MELK0.95570740
46WNK10.92884967
47SGK30.91679354
48NUAK10.88828170
49BRSK20.87218835
50MAP3K60.81166959
51TEC0.80693325
52HIPK20.80337791
53CDK30.78199230
54ZAP700.77191002
55MAP3K110.76829412
56PDK10.74044620
57CAMK40.71808605
58PIM10.68706232
59MAP2K40.68640570
60RET0.67151859
61TAOK10.67145566
62STK40.66233723
63TNIK0.65974220
64KSR10.63965872
65LYN0.63510562
66CDK60.63308674
67CAMKK10.62725491
68DYRK1A0.59370723
69SGK10.58809181
70STK380.58666251
71MATK0.55686669
72GRK10.54499465
73LATS10.54374681
74IKBKB0.52190075
75NTRK20.50766653
76PIK3CA0.50745329
77MAP3K130.49941432
78PDPK10.48355890
79JAK30.47311358
80JAK20.44426075
81TAOK20.44353265
82FGFR30.43408211
83TYK20.41026955
84MAP2K10.40878732
85CDK90.40311765
86INSRR0.37668068
87RPS6KA60.37526480
88MET0.35414149
89CSF1R0.35315354
90BMPR1B0.34035121
91ITK0.33700053
92MAP2K20.33468184
93PRKG10.33442211
94STK110.33044591
95PRKCQ0.30449409
96DAPK20.28460662
97HCK0.25628311
98MARK30.24825119
99STK30.23990035
100DYRK1B0.23129064

Predicted pathways (KEGG)

RankGene SetZ-score
1Taurine and hypotaurine metabolism_Homo sapiens_hsa004307.13939563
2Maturity onset diabetes of the young_Homo sapiens_hsa049503.27693280
3Nicotine addiction_Homo sapiens_hsa050332.15988926
4Cyanoamino acid metabolism_Homo sapiens_hsa0046010.5947256
5Taste transduction_Homo sapiens_hsa047421.71474696
6Arachidonic acid metabolism_Homo sapiens_hsa005901.64853708
7Morphine addiction_Homo sapiens_hsa050321.28171880
8Toll-like receptor signaling pathway_Homo sapiens_hsa046201.25127108
9Fatty acid biosynthesis_Homo sapiens_hsa000611.22469375
10Leishmaniasis_Homo sapiens_hsa051401.18478325
11Dorso-ventral axis formation_Homo sapiens_hsa043201.07485393
12Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.99717306
13Serotonergic synapse_Homo sapiens_hsa047260.90541162
14Cocaine addiction_Homo sapiens_hsa050300.89956435
15Osteoclast differentiation_Homo sapiens_hsa043800.85556609
16Tuberculosis_Homo sapiens_hsa051520.83632415
17T cell receptor signaling pathway_Homo sapiens_hsa046600.82675804
18Nitrogen metabolism_Homo sapiens_hsa009100.82580514
19Neuroactive ligand-receptor interaction_Homo sapiens_hsa040800.80777777
20GABAergic synapse_Homo sapiens_hsa047270.79721699
21Amphetamine addiction_Homo sapiens_hsa050310.77940739
22Olfactory transduction_Homo sapiens_hsa047400.75651040
23Steroid hormone biosynthesis_Homo sapiens_hsa001400.75008701
24Hedgehog signaling pathway_Homo sapiens_hsa043400.74287627
25cAMP signaling pathway_Homo sapiens_hsa040240.72674234
26Ovarian steroidogenesis_Homo sapiens_hsa049130.70077094
27Ether lipid metabolism_Homo sapiens_hsa005650.69811287
28Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.69738282
29Renin secretion_Homo sapiens_hsa049240.69106354
30Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.67921150
31Glycerophospholipid metabolism_Homo sapiens_hsa005640.67914678
32RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.67771207
33Glutathione metabolism_Homo sapiens_hsa004800.67049810
34Non-small cell lung cancer_Homo sapiens_hsa052230.65465662
35Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.65002335
36NOD-like receptor signaling pathway_Homo sapiens_hsa046210.63808084
37Toxoplasmosis_Homo sapiens_hsa051450.62426645
38TNF signaling pathway_Homo sapiens_hsa046680.62061242
39B cell receptor signaling pathway_Homo sapiens_hsa046620.60576109
40Staphylococcus aureus infection_Homo sapiens_hsa051500.60356057
41Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.60265433
42GnRH signaling pathway_Homo sapiens_hsa049120.58406399
43Phototransduction_Homo sapiens_hsa047440.58177660
44Adipocytokine signaling pathway_Homo sapiens_hsa049200.57261280
45Glycosphingolipid biosynthesis - globo series_Homo sapiens_hsa006030.55689451
46Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.54778410
47Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.53423145
48Linoleic acid metabolism_Homo sapiens_hsa005910.52683282
49Cholinergic synapse_Homo sapiens_hsa047250.51512055
50Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006040.51388437
51Estrogen signaling pathway_Homo sapiens_hsa049150.50940510
52Influenza A_Homo sapiens_hsa051640.49280333
53alpha-Linolenic acid metabolism_Homo sapiens_hsa005920.49086197
54Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.48708359
55Vitamin digestion and absorption_Homo sapiens_hsa049770.48453219
56Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030080.48378153
57Circadian rhythm_Homo sapiens_hsa047100.47883216
58Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049600.47827496
59NF-kappa B signaling pathway_Homo sapiens_hsa040640.47780910
60Malaria_Homo sapiens_hsa051440.47740925
61Vascular smooth muscle contraction_Homo sapiens_hsa042700.46947055
62MAPK signaling pathway_Homo sapiens_hsa040100.46405392
63Inositol phosphate metabolism_Homo sapiens_hsa005620.44498373
64Platelet activation_Homo sapiens_hsa046110.43682534
65Prolactin signaling pathway_Homo sapiens_hsa049170.43274896
66Aldosterone synthesis and secretion_Homo sapiens_hsa049250.41178994
67Circadian entrainment_Homo sapiens_hsa047130.39447781
68Graft-versus-host disease_Homo sapiens_hsa053320.38870165
69Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.38864580
70Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.38026751
71Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.37295239
72Glutamatergic synapse_Homo sapiens_hsa047240.36513524
73Measles_Homo sapiens_hsa051620.35476812
74Wnt signaling pathway_Homo sapiens_hsa043100.35204090
75Insulin secretion_Homo sapiens_hsa049110.34660629
76VEGF signaling pathway_Homo sapiens_hsa043700.34074443
77Intestinal immune network for IgA production_Homo sapiens_hsa046720.33954353
78Primary bile acid biosynthesis_Homo sapiens_hsa001200.33722391
79Choline metabolism in cancer_Homo sapiens_hsa052310.33496945
80Long-term depression_Homo sapiens_hsa047300.33442027
81Type II diabetes mellitus_Homo sapiens_hsa049300.31748589
82Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.31747246
83Chemokine signaling pathway_Homo sapiens_hsa040620.31621224
84Histidine metabolism_Homo sapiens_hsa003400.30437373
85Thyroid cancer_Homo sapiens_hsa052160.30407498
86Calcium signaling pathway_Homo sapiens_hsa040200.29770925
87SNARE interactions in vesicular transport_Homo sapiens_hsa041300.29372121
88Phosphatidylinositol signaling system_Homo sapiens_hsa040700.27800126
89Hepatitis B_Homo sapiens_hsa051610.26127186
90Antigen processing and presentation_Homo sapiens_hsa046120.25533737
91Regulation of autophagy_Homo sapiens_hsa041400.24947370
92FoxO signaling pathway_Homo sapiens_hsa040680.24890302
93Salivary secretion_Homo sapiens_hsa049700.24486201
94Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.24437111
95Progesterone-mediated oocyte maturation_Homo sapiens_hsa049140.24294640
96Transcriptional misregulation in cancer_Homo sapiens_hsa052020.22356506
97Synthesis and degradation of ketone bodies_Homo sapiens_hsa000720.22021302
98cGMP-PKG signaling pathway_Homo sapiens_hsa040220.21914628
99Long-term potentiation_Homo sapiens_hsa047200.21465003
100Prostate cancer_Homo sapiens_hsa052150.21325811

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