RAB7A

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: RAB family members are small, RAS-related GTP-binding proteins that are important regulators of vesicular transport. Each RAB protein targets multiple proteins that act in exocytic / endocytic pathways. This gene encodes a RAB family member that regulates vesicle traffic in the late endosomes and also from late endosomes to lysosomes. This encoded protein is also involved in the cellular vacuolation of the VacA cytotoxin of Helicobacter pylori. Mutations at highly conserved amino acid residues in this gene have caused some forms of Charcot-Marie-Tooth (CMT) type 2 neuropathies. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1Golgi transport vesicle coating (GO:0048200)4.37128781
2COPI coating of Golgi vesicle (GO:0048205)4.37128781
3protein localization to endosome (GO:0036010)4.16858001
4barbed-end actin filament capping (GO:0051016)3.82092573
5regulation of early endosome to late endosome transport (GO:2000641)3.78046892
6stress fiber assembly (GO:0043149)3.41560942
7skin morphogenesis (GO:0043589)3.40776345
8cellular response to thyroid hormone stimulus (GO:0097067)3.17884715
9response to peptidoglycan (GO:0032494)3.10691060
10negative regulation of erythrocyte differentiation (GO:0045647)3.02878510
11negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.98201946
12retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)2.95459600
13glycosphingolipid catabolic process (GO:0046479)2.93135592
14virion attachment to host cell (GO:0019062)2.92015928
15adhesion of symbiont to host cell (GO:0044650)2.92015928
16positive regulation of cellular amide metabolic process (GO:0034250)2.90864770
17adhesion of symbiont to host (GO:0044406)2.87290435
18positive regulation of membrane protein ectodomain proteolysis (GO:0051044)2.87157766
19response to thyroid hormone (GO:0097066)2.83707573
20maintenance of protein localization in endoplasmic reticulum (GO:0035437)2.82395851
21modulation by organism of defense response of other organism involved in symbiotic interaction (GO:02.77655667
22positive regulation by organism of defense response of other organism involved in symbiotic interact2.77655667
23modulation by symbiont of host immune response (GO:0052553)2.77655667
24positive regulation by symbiont of host defense response (GO:0052509)2.77655667
25modulation by symbiont of host defense response (GO:0052031)2.77655667
26modulation by organism of immune response of other organism involved in symbiotic interaction (GO:002.77655667
27pinocytosis (GO:0006907)2.76028783
28positive regulation of receptor recycling (GO:0001921)2.72317479
29localization within membrane (GO:0051668)2.72098512
30protein retention in ER lumen (GO:0006621)2.71310396
31activation of MAPKKK activity (GO:0000185)2.65940471
32glycolipid catabolic process (GO:0019377)2.65183871
33lipopolysaccharide-mediated signaling pathway (GO:0031663)2.64046087
34positive regulation of syncytium formation by plasma membrane fusion (GO:0060143)2.63865156
35regulation of T-helper 2 cell differentiation (GO:0045628)2.61457058
36regulation of defense response to virus by virus (GO:0050690)2.61454673
37amino sugar catabolic process (GO:0046348)2.57694905
38neutrophil activation involved in immune response (GO:0002283)2.56859502
39hypotonic response (GO:0006971)2.53203268
40regulation of amyloid precursor protein catabolic process (GO:1902991)2.52451445
41negative regulation of protein localization to plasma membrane (GO:1903077)2.52116670
42macrophage activation involved in immune response (GO:0002281)2.50521641
43response to laminar fluid shear stress (GO:0034616)2.48667538
44regulation of podosome assembly (GO:0071801)2.47071338
45detection of other organism (GO:0098543)2.44934812
46regulation of extracellular matrix disassembly (GO:0010715)2.44842415
47regulation of superoxide anion generation (GO:0032928)2.42492147
48antigen processing and presentation of endogenous peptide antigen (GO:0002483)2.39779859
49regulation of membrane protein ectodomain proteolysis (GO:0051043)2.38312721
50basement membrane organization (GO:0071711)2.37998382
51regulation of leukocyte degranulation (GO:0043300)2.37208390
52detection of bacterium (GO:0016045)2.36406347
53positive regulation of extracellular matrix organization (GO:1903055)2.35807750
54sodium ion export (GO:0071436)2.34709604
55negative regulation of leukocyte mediated cytotoxicity (GO:0001911)2.33764012
56negative regulation of cell killing (GO:0031342)2.33764012
57regulation of mononuclear cell migration (GO:0071675)2.33344014
58vesicle coating (GO:0006901)2.32067889
59membrane raft organization (GO:0031579)2.31285628
60hyaluronan catabolic process (GO:0030214)2.31024591
61epithelial cell differentiation involved in prostate gland development (GO:0060742)2.30682008
62decidualization (GO:0046697)2.30048325
633-UTR-mediated mRNA stabilization (GO:0070935)2.29169934
64negative regulation of interleukin-12 production (GO:0032695)2.28611631
65antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (G2.27883875
66antigen processing and presentation of endogenous peptide antigen via MHC class I (GO:0019885)2.26674403
67endoplasmic reticulum calcium ion homeostasis (GO:0032469)2.26160432
68detection of molecule of bacterial origin (GO:0032490)2.25798583
69negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)2.25007461
70modulation by symbiont of host cellular process (GO:0044068)2.23939269
71cellular copper ion homeostasis (GO:0006878)2.22644108
72antigen processing and presentation of endogenous antigen (GO:0019883)2.22143984
73regulation of cellular amide metabolic process (GO:0034248)2.22043357
74glucose 6-phosphate metabolic process (GO:0051156)2.21845420
75detection of external biotic stimulus (GO:0098581)2.21503542
76regulation of type 2 immune response (GO:0002828)2.19997240
77positive regulation of protein dephosphorylation (GO:0035307)2.19840732
78protein maturation by protein folding (GO:0022417)2.18323458
79positive regulation of Cdc42 GTPase activity (GO:0043089)2.18195815
80regulation of vitamin D biosynthetic process (GO:0060556)2.17775159
81germinal center formation (GO:0002467)2.16712149
82cell adhesion mediated by integrin (GO:0033627)2.15531683
83leukocyte aggregation (GO:0070486)2.15089931
84positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)2.13658672
85signal complex assembly (GO:0007172)2.13506352
86ceramide catabolic process (GO:0046514)2.13305536
87cortical actin cytoskeleton organization (GO:0030866)2.12687089
88negative regulation of homotypic cell-cell adhesion (GO:0034111)2.10660732
89regulation of mast cell degranulation (GO:0043304)2.10033657
90cytoskeletal anchoring at plasma membrane (GO:0007016)2.09924607
91myeloid dendritic cell differentiation (GO:0043011)2.09038776
92vascular endothelial growth factor receptor signaling pathway (GO:0048010)2.09017025
93regulation of regulated secretory pathway (GO:1903305)2.08819531
94response to muramyl dipeptide (GO:0032495)2.08610289
95apoptotic cell clearance (GO:0043277)2.08579966
96positive regulation of leukocyte degranulation (GO:0043302)2.07871061
97regulation of macrophage cytokine production (GO:0010935)2.06846371
98negative regulation of type 2 immune response (GO:0002829)2.06587788
99modulation by virus of host morphology or physiology (GO:0019048)2.06301502
100eosinophil chemotaxis (GO:0048245)2.06287625

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TP63_17297297_ChIP-ChIP_HaCaT_Human3.18580812
2NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse3.15204822
3NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human2.87920366
4THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.70855244
5RARG_19884340_ChIP-ChIP_MEFs_Mouse2.69457731
6BP1_19119308_ChIP-ChIP_Hs578T_Human2.50705723
7CLOCK_20551151_ChIP-Seq_293T_Human2.40898384
8EGR1_19374776_ChIP-ChIP_THP-1_Human2.38698615
9ELK3_25401928_ChIP-Seq_HUVEC_Human2.35340397
10LXR_22292898_ChIP-Seq_THP-1_Human2.21748143
11TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse2.12135757
12NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse2.11622821
13SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse2.01494407
14KDM2B_26808549_Chip-Seq_SUP-B15_Human2.01208582
15MYB_21317192_ChIP-Seq_ERMYB_Mouse1.96529996
16PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.90470446
17ESR2_21235772_ChIP-Seq_MCF-7_Human1.88239164
18VDR_21846776_ChIP-Seq_THP-1_Human1.87724234
19RACK7_27058665_Chip-Seq_MCF-7_Human1.86645939
20RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.82927853
21TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.79059541
22ZNF263_19887448_ChIP-Seq_K562_Human1.76889412
23KDM2B_26808549_Chip-Seq_SIL-ALL_Human1.75808864
24RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.64806666
25TCF7_22412390_ChIP-Seq_EML_Mouse1.63405912
26VDR_24763502_ChIP-Seq_THP-1_Human1.60118636
27MECOM_23826213_ChIP-Seq_KASUMI_Mouse1.59732342
28KDM2B_26808549_Chip-Seq_DND41_Human1.58583703
29SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.58508292
30IRF8_27001747_Chip-Seq_BMDM_Mouse1.57231506
31TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.55128464
32Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.54617022
33TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.52562266
34MYC_22102868_ChIP-Seq_BL_Human1.49758077
35SRY_22984422_ChIP-ChIP_TESTIS_Rat1.49273198
36BRD4_27068464_Chip-Seq_AML-cells_Mouse1.47973431
37CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse1.47369291
38KDM2B_26808549_Chip-Seq_K562_Human1.41953324
39P300_27058665_Chip-Seq_ZR-75-30cells_Human1.41664911
40GATA2_21666600_ChIP-Seq_HMVEC_Human1.41390670
41KLF4_26769127_Chip-Seq_PDAC-Cell_line_Human1.41103196
42RUNX1_22412390_ChIP-Seq_EML_Mouse1.39423755
43KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.38995402
44* SPI1_23127762_ChIP-Seq_K562_Human1.38355046
45TRIM28_21343339_ChIP-Seq_HEK293_Human1.36935336
46RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.36460230
47WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.35480048
48ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.34988698
49ZFP281_18757296_ChIP-ChIP_E14_Mouse1.34717791
50IRF8_22096565_ChIP-ChIP_GC-B_Human1.33229119
51TAL1_20566737_ChIP-Seq_PRIMARY_FETAL_LIVER_ERYTHROID_Mouse1.31862133
52FOXP3_17237761_ChIP-ChIP_TREG_Mouse1.30845740
53VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.30353774
54PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.29962794
55IRF8_21731497_ChIP-ChIP_J774_Mouse1.27843343
56PU.1_20513432_ChIP-Seq_MACROPHAGES_Mouse1.24419602
57TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.23586014
58TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.23416106
59GATA1_19941827_ChIP-Seq_MEL_Mouse1.21749716
60STAT4_19710469_ChIP-ChIP_TH1__Mouse1.21313906
61UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human1.19725580
62ESR1_21235772_ChIP-Seq_MCF-7_Human1.18692619
63DNAJC2_21179169_ChIP-ChIP_NT2_Human1.18691275
64RXR_22158963_ChIP-Seq_LIVER_Mouse1.18196129
65TBX20_22080862_ChIP-Seq_HEART_Mouse1.17592545
66TBX20_22328084_ChIP-Seq_HEART_Mouse1.17592545
67ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.16972119
68EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human1.14498764
69CTCF_27219007_Chip-Seq_ERYTHROID_Human1.13945077
70TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat1.12892787
71ATF3_27146783_Chip-Seq_COLON_Human1.12817863
72SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse1.11694716
73MAF_26560356_Chip-Seq_TH1_Human1.11454178
74KDM2B_26808549_Chip-Seq_HPB-ALL_Human1.10480219
75ELF3_26769127_Chip-Seq_PDAC-Cell_line_Human1.10117692
76MEIS1_20887958_ChIP-Seq_HPC-7_Mouse1.09398211
77CEBPB_20176806_ChIP-Seq_MACROPHAGES_Mouse1.08538850
78STAT6_21828071_ChIP-Seq_BEAS2B_Human1.07462196
79FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.07218381
80STAT3_20064451_ChIP-Seq_CD4+T_Mouse1.07170246
81PU.1_20176806_ChIP-Seq_MACROPHAGES_Mouse1.07105185
82NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.06649404
83GATA1_22383799_ChIP-Seq_G1ME_Mouse1.06614557
84GATA3_20176728_ChIP-ChIP_TSCs_Mouse1.06424314
85KDM2B_26808549_Chip-Seq_JURKAT_Human1.06377095
86P63_26484246_Chip-Seq_KERATINOCYTES_Human1.05672255
87SMC1_22415368_ChIP-Seq_MEFs_Mouse1.05577109
88SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.02876251
89SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.02876251
90E2A_27217539_Chip-Seq_RAMOS-Cell_line_Human1.00385824
91KLF4_18358816_ChIP-ChIP_MESCs_Mouse0.99687722
92* TFEB_21752829_ChIP-Seq_HELA_Human0.99377702
93GATA1_22025678_ChIP-Seq_K562_Human0.99233952
94SOX2_27498859_Chip-Seq_STOMACH_Mouse0.98416308
95PPARA_22158963_ChIP-Seq_LIVER_Mouse0.98142025
96SA1_27219007_Chip-Seq_ERYTHROID_Human0.97474365
97UBF1/2_26484160_Chip-Seq_HMECs_Human0.96870073
98NFIB_24661679_ChIP-Seq_LUNG_Mouse0.96803312
99SOX9_24532713_ChIP-Seq_HFSC_Mouse0.95591028
100SMC4_20622854_ChIP-Seq_HELA_Human0.94310650

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003303_peritoneal_inflammation4.02645507
2MP0005058_abnormal_lysosome_morphology3.80871909
3MP0002877_abnormal_melanocyte_morpholog3.30910975
4MP0003705_abnormal_hypodermis_morpholog2.86975060
5MP0003191_abnormal_cellular_cholesterol2.86739740
6MP0005451_abnormal_body_composition2.82069309
7MP0006082_CNS_inflammation2.69608646
8MP0009840_abnormal_foam_cell2.65933924
9MP0003300_gastrointestinal_ulcer2.58531703
10MP0003172_abnormal_lysosome_physiology2.47838114
11MP0003436_decreased_susceptibility_to2.42180644
12MP0008438_abnormal_cutaneous_collagen2.22406748
13MP0003566_abnormal_cell_adhesion2.13851511
14MP0005257_abnormal_intraocular_pressure2.13207091
15MP0003453_abnormal_keratinocyte_physiol2.08588044
16MP0003329_amyloid_beta_deposits2.02424948
17MP0008260_abnormal_autophagy2.01616286
18MP0010234_abnormal_vibrissa_follicle2.00826500
19MP0003075_altered_response_to1.94151496
20MP0003724_increased_susceptibility_to1.93470084
21MP0000604_amyloidosis1.88651900
22MP0004947_skin_inflammation1.78279155
23MP0000858_altered_metastatic_potential1.77922437
24MP0002796_impaired_skin_barrier1.77765454
25MP0004510_myositis1.77339622
26MP0000343_altered_response_to1.76077940
27MP0002419_abnormal_innate_immunity1.75201212
28MP0001533_abnormal_skeleton_physiology1.68991684
29MP0003091_abnormal_cell_migration1.68899762
30MP0002998_abnormal_bone_remodeling1.61400949
31MP0002148_abnormal_hypersensitivity_rea1.55309074
32MP0003279_aneurysm1.49904249
33MP0005166_decreased_susceptibility_to1.49489556
34MP0003690_abnormal_glial_cell1.48074776
35MP0001958_emphysema1.46975643
36MP0005025_abnormal_response_to1.46627987
37MP0004858_abnormal_nervous_system1.46191732
38MP0005464_abnormal_platelet_physiology1.45706899
39MP0001542_abnormal_bone_strength1.42794855
40MP0004233_abnormal_muscle_weight1.42106559
41MP0003828_pulmonary_edema1.40627847
42MP0005023_abnormal_wound_healing1.37967209
43MP0005409_darkened_coat_color1.35943791
44MP0005000_abnormal_immune_tolerance1.35760543
45MP0000920_abnormal_myelination1.33612307
46MP0009785_altered_susceptibility_to1.33242401
47MP0003448_altered_tumor_morphology1.30907989
48MP0005275_abnormal_skin_tensile1.24259442
49MP0003183_abnormal_peptide_metabolism1.23060703
50MP0001849_ear_inflammation1.19470587
51MP0005501_abnormal_skin_physiology1.14421225
52MP0001790_abnormal_immune_system1.14345891
53MP0005387_immune_system_phenotype1.14345891
54MP0005165_increased_susceptibility_to1.10479778
55MP0001835_abnormal_antigen_presentation1.10290150
56MP0008004_abnormal_stomach_pH1.09416257
57MP0010155_abnormal_intestine_physiology1.05430156
58MP0002452_abnormal_antigen_presenting1.04310980
59MP0001851_eye_inflammation1.00989143
60MP0009278_abnormal_bone_marrow1.00735724
61MP0005390_skeleton_phenotype1.00250502
62MP0002060_abnormal_skin_morphology0.99547129
63MP0003634_abnormal_glial_cell0.98385788
64MP0005076_abnormal_cell_differentiation0.97793158
65MP0005671_abnormal_response_to0.97119007
66MP0002896_abnormal_bone_mineralization0.96387454
67MP0000685_abnormal_immune_system0.94982797
68MP0000747_muscle_weakness0.93985055
69MP0010352_gastrointestinal_tract_polyps0.93777252
70MP0001853_heart_inflammation0.93516834
71MP0005164_abnormal_response_to0.93014529
72MP0002723_abnormal_immune_serum0.92290431
73MP0004185_abnormal_adipocyte_glucose0.92282595
74MP0001727_abnormal_embryo_implantation0.90979986
75MP0005666_abnormal_adipose_tissue0.90313485
76MP0005623_abnormal_meninges_morphology0.90267669
77MP0008874_decreased_physiological_sensi0.89363196
78MP0001915_intracranial_hemorrhage0.89125895
79MP0002332_abnormal_exercise_endurance0.88758261
80MP0001845_abnormal_inflammatory_respons0.88359549
81MP0002420_abnormal_adaptive_immunity0.88341492
82MP0001819_abnormal_immune_cell0.88288888
83MP0009333_abnormal_splenocyte_physiolog0.88063526
84MP0005375_adipose_tissue_phenotype0.86715709
85MP0008469_abnormal_protein_level0.85003083
86MP0002405_respiratory_system_inflammati0.83884564
87MP0001545_abnormal_hematopoietic_system0.82627641
88MP0005397_hematopoietic_system_phenotyp0.82627641
89MP0000751_myopathy0.82609211
90MP0003795_abnormal_bone_structure0.81224276
91MP0004782_abnormal_surfactant_physiolog0.81144499
92MP0001216_abnormal_epidermal_layer0.79916471
93MP0003656_abnormal_erythrocyte_physiolo0.76868144
94MP0005621_abnormal_cell_physiology0.71746060
95MP0009764_decreased_sensitivity_to0.70520595
96MP0004381_abnormal_hair_follicle0.69160854
97MP0001800_abnormal_humoral_immune0.68886249
98MP0009763_increased_sensitivity_to0.67565728
99MP0002971_abnormal_brown_adipose0.66564600
100MP0000681_abnormal_thyroid_gland0.66498525

Predicted human phenotypes

RankGene SetZ-score
1Abnormality of glycolipid metabolism (HP:0010969)4.58230917
2Abnormality of liposaccharide metabolism (HP:0010968)4.58230917
3Abnormality of glycosphingolipid metabolism (HP:0004343)4.58230917
4Neurofibrillary tangles (HP:0002185)3.30051318
5Dysostosis multiplex (HP:0000943)3.28101472
6Vertebral compression fractures (HP:0002953)3.20859506
7Abnormality of macrophages (HP:0004311)2.98814661
8Protrusio acetabuli (HP:0003179)2.95838119
9Increased cerebral lipofuscin (HP:0011813)2.93804107
10Axonal loss (HP:0003447)2.91000364
11Vacuolated lymphocytes (HP:0001922)2.88637569
12Cerebral inclusion bodies (HP:0100314)2.88134964
13Loss of speech (HP:0002371)2.86865501
14Systemic lupus erythematosus (HP:0002725)2.74745063
15Supranuclear gaze palsy (HP:0000605)2.67737580
16Eczematoid dermatitis (HP:0000976)2.66791247
17Distal lower limb muscle weakness (HP:0009053)2.66546980
18Abnormality of mucopolysaccharide metabolism (HP:0011020)2.64076492
19Abnormality of polysaccharide metabolism (HP:0011012)2.64076492
20Abnormality of glycosaminoglycan metabolism (HP:0004371)2.64076492
21Mucopolysacchariduria (HP:0008155)2.61818835
22Urinary glycosaminoglycan excretion (HP:0003541)2.61818835
23Asymmetric septal hypertrophy (HP:0001670)2.61029957
24Premature rupture of membranes (HP:0001788)2.43230305
25Purpura (HP:0000979)2.38963655
26Elevated circulating parathyroid hormone (PTH) level (HP:0003165)2.35903111
27Amyloidosis (HP:0011034)2.33731031
28Apathy (HP:0000741)2.33359488
29Diminished motivation (HP:0000745)2.32527454
30Increased neuronal autofluorescent lipopigment (HP:0002074)2.29822718
31Upper limb amyotrophy (HP:0009129)2.29330766
32Distal upper limb amyotrophy (HP:0007149)2.29330766
33Distal lower limb amyotrophy (HP:0008944)2.27905943
34Increased IgE level (HP:0003212)2.25600343
35Neuronal loss in central nervous system (HP:0002529)2.25276284
36Nuclear cataract (HP:0100018)2.24066200
37Abnormality of skeletal muscle fiber size (HP:0012084)2.21380966
38Centrally nucleated skeletal muscle fibers (HP:0003687)2.19101105
39Achilles tendon contracture (HP:0001771)2.18110430
40Segmental peripheral demyelination/remyelination (HP:0003481)2.15676361
41Increased connective tissue (HP:0009025)2.11643508
42Increased variability in muscle fiber diameter (HP:0003557)2.11030351
43Abnormality of the Achilles tendon (HP:0005109)2.06465002
44Interstitial pulmonary disease (HP:0006530)2.06418318
45Hyperparathyroidism (HP:0000843)2.06339972
46Obstructive sleep apnea (HP:0002870)2.02830037
47Osteolytic defects of the hand bones (HP:0009699)2.01464237
48Osteolytic defects of the phalanges of the hand (HP:0009771)2.01464237
49J-shaped sella turcica (HP:0002680)2.00605856
50Hand muscle atrophy (HP:0009130)1.98374557
51Progressive neurologic deterioration (HP:0002344)1.96602426
52Spinal rigidity (HP:0003306)1.93930700
53Cerebral aneurysm (HP:0004944)1.92857784
54Vascular tortuosity (HP:0004948)1.88223064
55Recurrent abscess formation (HP:0002722)1.87357960
56Peripheral hypomyelination (HP:0007182)1.86501805
57Mutism (HP:0002300)1.86197802
58Bone pain (HP:0002653)1.83645029
59Termporal pattern (HP:0011008)1.82175653
60Insidious onset (HP:0003587)1.82175653
61Spondylolisthesis (HP:0003302)1.80857225
62Hypercortisolism (HP:0001578)1.76122391
63Abnormality of long-chain fatty-acid metabolism (HP:0010964)1.75420571
64Recurrent bacterial skin infections (HP:0005406)1.75368180
65Arterial tortuosity (HP:0005116)1.73086814
66Myocardial infarction (HP:0001658)1.71946250
67Thin bony cortex (HP:0002753)1.70837937
68Disinhibition (HP:0000734)1.70654500
69Orchitis (HP:0100796)1.70143526
70Muscle fiber splitting (HP:0003555)1.69340945
71Lower limb amyotrophy (HP:0007210)1.69200833
72Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.68242484
73Petechiae (HP:0000967)1.67911656
74Generalized amyotrophy (HP:0003700)1.67729381
75Myositis (HP:0100614)1.66973329
76Hyperacusis (HP:0010780)1.66672044
77Polycythemia (HP:0001901)1.65594937
78Hepatosplenomegaly (HP:0001433)1.65195152
79Cervical subluxation (HP:0003308)1.62145058
80Atrophic scars (HP:0001075)1.61458235
81Growth hormone excess (HP:0000845)1.61182838
82Type 1 muscle fiber predominance (HP:0003803)1.60283779
83Wormian bones (HP:0002645)1.60001062
84Rapidly progressive (HP:0003678)1.59137648
85Exercise-induced myalgia (HP:0003738)1.58766265
86Difficulty climbing stairs (HP:0003551)1.58729915
87Mitral stenosis (HP:0001718)1.58305989
88Spontaneous hematomas (HP:0007420)1.57877717
89Dementia (HP:0000726)1.57514656
90Back pain (HP:0003418)1.57323241
91Upper motor neuron abnormality (HP:0002127)1.56680465
92Pathologic fracture (HP:0002756)1.56660073
93Hyporeflexia of lower limbs (HP:0002600)1.56591705
94Deep venous thrombosis (HP:0002625)1.56312037
95Slow saccadic eye movements (HP:0000514)1.56310895
96Recurrent gram-negative bacterial infections (HP:0005420)1.55602985
97Peritonitis (HP:0002586)1.54308999
98Broad face (HP:0000283)1.54220198
99Abnormality of complement system (HP:0005339)1.53944705
100Gingivitis (HP:0000230)1.53038821

Predicted kinase interactions (KEA)

RankGene SetZ-score
1ERN13.13241135
2TAOK23.07025359
3TAOK12.84294106
4MAP3K32.74904364
5TRIB32.67717369
6PRPF4B2.63066294
7TESK12.61654454
8RIPK12.55575646
9IRAK32.44720910
10MAP2K32.26106296
11MAP3K112.16812438
12EPHB12.13701084
13ARAF2.05049230
14MAP3K131.71951914
15ICK1.70436564
16RIPK41.65962295
17MOS1.61931638
18TESK21.61069929
19SIK11.55116635
20SIK31.54222338
21CDK121.51088045
22MAP3K11.47652406
23DDR21.44917344
24KSR21.40600326
25NME21.40148356
26MAP3K141.35119817
27TBK11.31085319
28PDGFRA1.29730930
29LIMK11.20859906
30CSK1.20056234
31PAK41.19042219
32JAK31.17555883
33PIM21.16808209
34ZAP701.16124710
35TTN1.15902789
36SCYL21.14679885
37ABL21.14517401
38LATS21.13638769
39TYK21.12429215
40SMG11.11324432
41NTRK11.11059240
42FGFR41.06569970
43PTK21.03475258
44CDC42BPA1.00187144
45EPHA20.93693570
46TGFBR20.86811473
47PRKD20.86717350
48PDPK10.86010347
49LRRK20.83425575
50MAP3K90.81698217
51STK100.78292948
52PTK60.78056548
53PRKD30.77690795
54MAP3K50.76865539
55BLK0.74872869
56JAK10.70332596
57FGR0.70054348
58PAK20.68671555
59DMPK0.68441211
60MAP3K80.67530790
61MARK20.65483613
62EPHA30.62909710
63MAP3K60.62304957
64IRAK40.61450200
65LMTK20.60835160
66STK380.59920073
67RPS6KA20.59112048
68ROCK20.57967645
69MAP3K20.57743508
70PKN20.57227840
71MATK0.55778515
72FES0.54461033
73MYLK0.52599911
74PDK10.50881440
75GRK70.50810610
76PDGFRB0.49692157
77MTOR0.47696901
78TYRO30.47643372
79MAPK120.47252728
80MAP3K120.46607205
81CDK60.45491003
82SIK20.44991533
83PAK60.44754329
84MAP4K10.42893517
85JAK20.42266275
86BMX0.41632993
87BRAF0.40221379
88MST1R0.39992567
89NEK90.39852468
90CSF1R0.39480656
91CDK140.39333168
92MAPK70.38779749
93KSR10.37853013
94RAF10.36896552
95PRKD10.36860729
96HIPK20.36818969
97FER0.34638652
98YES10.34145395
99PDK20.34010626
100PRKCH0.33970202

Predicted pathways (KEGG)

RankGene SetZ-score
1Butirosin and neomycin biosynthesis_Homo sapiens_hsa005242.88815604
2Other glycan degradation_Homo sapiens_hsa005112.65818206
3Lysosome_Homo sapiens_hsa041422.27679923
4Glycosaminoglycan degradation_Homo sapiens_hsa005312.16361228
5Osteoclast differentiation_Homo sapiens_hsa043801.86413219
6Toll-like receptor signaling pathway_Homo sapiens_hsa046201.70641245
7Prion diseases_Homo sapiens_hsa050201.64962945
8Vibrio cholerae infection_Homo sapiens_hsa051101.57111151
9Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.51605984
10Leishmaniasis_Homo sapiens_hsa051401.50882449
11Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.50268827
12Acute myeloid leukemia_Homo sapiens_hsa052211.46663230
13* Phagosome_Homo sapiens_hsa041451.42971858
14* Tuberculosis_Homo sapiens_hsa051521.40723907
15Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046661.36953460
16Shigellosis_Homo sapiens_hsa051311.35001145
17SNARE interactions in vesicular transport_Homo sapiens_hsa041301.33278864
18Malaria_Homo sapiens_hsa051441.32249726
19* Salmonella infection_Homo sapiens_hsa051321.32172410
20* Amoebiasis_Homo sapiens_hsa051461.31803702
21Staphylococcus aureus infection_Homo sapiens_hsa051501.30982721
22Pertussis_Homo sapiens_hsa051331.23604963
23TNF signaling pathway_Homo sapiens_hsa046681.22392847
24Chronic myeloid leukemia_Homo sapiens_hsa052201.21973860
25Bladder cancer_Homo sapiens_hsa052191.20876620
26Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.19633705
27Toxoplasmosis_Homo sapiens_hsa051451.18333989
28Viral myocarditis_Homo sapiens_hsa054161.17936581
29Renal cell carcinoma_Homo sapiens_hsa052111.17671631
30VEGF signaling pathway_Homo sapiens_hsa043701.17572533
31Vasopressin-regulated water reabsorption_Homo sapiens_hsa049621.17177807
32Rheumatoid arthritis_Homo sapiens_hsa053231.16408161
33Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051421.15603475
34AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049331.13468686
35Pancreatic cancer_Homo sapiens_hsa052121.13262493
36* Endocytosis_Homo sapiens_hsa041441.12732907
37Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051201.12545951
38B cell receptor signaling pathway_Homo sapiens_hsa046621.11643473
39Leukocyte transendothelial migration_Homo sapiens_hsa046701.08328883
40Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.05012676
41Pentose phosphate pathway_Homo sapiens_hsa000301.03984233
42Neurotrophin signaling pathway_Homo sapiens_hsa047221.01484361
43Hepatitis C_Homo sapiens_hsa051601.00536345
44Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050141.00504149
45Synaptic vesicle cycle_Homo sapiens_hsa047211.00321108
46Legionellosis_Homo sapiens_hsa051340.99073758
47Influenza A_Homo sapiens_hsa051640.97008307
48Galactose metabolism_Homo sapiens_hsa000520.96486615
49Fc epsilon RI signaling pathway_Homo sapiens_hsa046640.95797530
50Chemokine signaling pathway_Homo sapiens_hsa040620.95763481
51Sphingolipid signaling pathway_Homo sapiens_hsa040710.91506529
52Thyroid cancer_Homo sapiens_hsa052160.91283380
53Prolactin signaling pathway_Homo sapiens_hsa049170.90886962
54Central carbon metabolism in cancer_Homo sapiens_hsa052300.90860119
55Fructose and mannose metabolism_Homo sapiens_hsa000510.89810045
56GnRH signaling pathway_Homo sapiens_hsa049120.85457457
57Phospholipase D signaling pathway_Homo sapiens_hsa040720.83963255
58Insulin signaling pathway_Homo sapiens_hsa049100.83083152
59Focal adhesion_Homo sapiens_hsa045100.82853494
60Non-small cell lung cancer_Homo sapiens_hsa052230.82795829
61NF-kappa B signaling pathway_Homo sapiens_hsa040640.82127204
62Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005200.81522278
63Hepatitis B_Homo sapiens_hsa051610.81395281
64Endometrial cancer_Homo sapiens_hsa052130.80870478
65Apoptosis_Homo sapiens_hsa042100.80606551
66Notch signaling pathway_Homo sapiens_hsa043300.77093495
67Collecting duct acid secretion_Homo sapiens_hsa049660.76439319
68Estrogen signaling pathway_Homo sapiens_hsa049150.75280428
69Proteoglycans in cancer_Homo sapiens_hsa052050.74806709
70Adherens junction_Homo sapiens_hsa045200.73335702
71Adipocytokine signaling pathway_Homo sapiens_hsa049200.71512402
72NOD-like receptor signaling pathway_Homo sapiens_hsa046210.70169663
73ErbB signaling pathway_Homo sapiens_hsa040120.69624162
74Measles_Homo sapiens_hsa051620.69428975
75Natural killer cell mediated cytotoxicity_Homo sapiens_hsa046500.69426711
76Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.68876657
77Hematopoietic cell lineage_Homo sapiens_hsa046400.68130055
78Citrate cycle (TCA cycle)_Homo sapiens_hsa000200.67764931
79Thyroid hormone signaling pathway_Homo sapiens_hsa049190.67614363
80Regulation of actin cytoskeleton_Homo sapiens_hsa048100.67410450
81Sphingolipid metabolism_Homo sapiens_hsa006000.65618753
82Long-term potentiation_Homo sapiens_hsa047200.64766435
83Complement and coagulation cascades_Homo sapiens_hsa046100.64158558
84Glioma_Homo sapiens_hsa052140.62743618
85T cell receptor signaling pathway_Homo sapiens_hsa046600.61609066
86Allograft rejection_Homo sapiens_hsa053300.61372528
87AMPK signaling pathway_Homo sapiens_hsa041520.61364581
88mTOR signaling pathway_Homo sapiens_hsa041500.60462877
89Insulin resistance_Homo sapiens_hsa049310.60359783
90Platelet activation_Homo sapiens_hsa046110.59284162
91Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.57319108
92Inflammatory bowel disease (IBD)_Homo sapiens_hsa053210.57082217
93Choline metabolism in cancer_Homo sapiens_hsa052310.55599555
94Jak-STAT signaling pathway_Homo sapiens_hsa046300.53759626
95Antigen processing and presentation_Homo sapiens_hsa046120.53302046
96Herpes simplex infection_Homo sapiens_hsa051680.52390797
97African trypanosomiasis_Homo sapiens_hsa051430.52388098
98HIF-1 signaling pathway_Homo sapiens_hsa040660.51635988
99Rap1 signaling pathway_Homo sapiens_hsa040150.51625651
100Phosphatidylinositol signaling system_Homo sapiens_hsa040700.49231207

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