CST2

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: The cystatin superfamily encompasses proteins that contain multiple cystatin-like sequences. Some of the members are active cysteine protease inhibitors, while others have lost or perhaps never acquired this inhibitory activity. There are three inhibitory families in the superfamily, including the type 1 cystatins (stefins), type 2 cystatins and the kininogens. The type 2 cystatin proteins are a class of cysteine proteinase inhibitors found in a variety of human fluids and secretions, where they appear to provide protective functions. The cystatin locus on chromosome 20 contains the majority of the type 2 cystatin genes and pseudogenes. This gene is located in the cystatin locus and encodes a secreted thiol protease inhibitor found at high levels in saliva, tears and seminal plasma. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein maturation by protein folding (GO:0022417)8.47953739
2establishment of viral latency (GO:0019043)7.29548630
3establishment of integrated proviral latency (GO:0075713)7.29327176
4extracellular fibril organization (GO:0043206)6.68660702
5fibril organization (GO:0097435)5.60901677
6endothelial tube morphogenesis (GO:0061154)5.46429021
7morphogenesis of an endothelium (GO:0003159)5.46429021
8mitotic nuclear envelope reassembly (GO:0007084)5.26155717
9nuclear envelope reassembly (GO:0031468)5.26155717
10positive regulation of actin filament depolymerization (GO:0030836)5.22841972
11response to gravity (GO:0009629)4.99995156
12negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)4.93094479
13muscle cell migration (GO:0014812)4.82870129
14regulation of metalloenzyme activity (GO:0048552)4.82042329
15* detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)4.64993221
16mesenchymal cell differentiation involved in renal system development (GO:2001012)4.33415180
17mesenchymal cell differentiation involved in kidney development (GO:0072161)4.33415180
18sequestering of actin monomers (GO:0042989)4.23508833
19negative regulation of glycoprotein metabolic process (GO:1903019)4.21353481
20DNA unwinding involved in DNA replication (GO:0006268)4.16737608
21barbed-end actin filament capping (GO:0051016)4.07924073
22negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.06334891
23proteasome assembly (GO:0043248)4.04963725
24type B pancreatic cell proliferation (GO:0044342)4.04163731
25Golgi transport vesicle coating (GO:0048200)4.03866099
26COPI coating of Golgi vesicle (GO:0048205)4.03866099
27actin filament depolymerization (GO:0030042)3.96804655
28mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.88286040
29pattern specification involved in kidney development (GO:0061004)3.87502027
30protein retention in ER lumen (GO:0006621)3.78820567
31* detection of chemical stimulus involved in sensory perception of taste (GO:0050912)3.74151759
32membrane raft organization (GO:0031579)3.73840784
33positive regulation of pseudopodium assembly (GO:0031274)3.72537607
34galactose catabolic process (GO:0019388)3.72427630
35deoxyribonucleoside monophosphate metabolic process (GO:0009162)3.72221150
36glomerular visceral epithelial cell development (GO:0072015)3.62016699
37response to interferon-beta (GO:0035456)3.55702184
38lipopolysaccharide biosynthetic process (GO:0009103)3.52564898
39negative regulation of release of cytochrome c from mitochondria (GO:0090201)3.52192160
40galactose metabolic process (GO:0006012)3.51048318
41nucleoside transmembrane transport (GO:1901642)3.45408748
42maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.39537925
43negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.38290120
44regulation of pseudopodium assembly (GO:0031272)3.38125219
45positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.35901762
46myoblast migration (GO:0051451)3.34272492
47negative regulation of phosphoprotein phosphatase activity (GO:0032515)3.28465905
48cellular copper ion homeostasis (GO:0006878)3.23756818
49fibrinolysis (GO:0042730)3.22651759
50positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.18197527
51glomerular epithelial cell development (GO:0072310)3.13256903
52negative regulation of metanephros development (GO:0072217)3.11949392
53positive regulation of protein complex disassembly (GO:0043243)3.07908713
54regulation of cellular amino acid metabolic process (GO:0006521)3.06587179
55regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.03390037
56mesonephros development (GO:0001823)3.02360883
57negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.02331263
58negative regulation of ligase activity (GO:0051352)3.02331263
59endosome to pigment granule transport (GO:0043485)3.00466321
60endosome to melanosome transport (GO:0035646)3.00466321
61heterochromatin organization (GO:0070828)3.00423244
62regulation of extracellular matrix disassembly (GO:0010715)2.99008952
63negative regulation of mitochondrion organization (GO:0010823)2.98014909
64DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:002.97200622
65cortical actin cytoskeleton organization (GO:0030866)2.94008248
66anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:02.93007481
67cellular response to zinc ion (GO:0071294)2.91443653
68AMP metabolic process (GO:0046033)2.91174727
69regulation of branching involved in prostate gland morphogenesis (GO:0060687)2.91017351
70regulation of mitochondrial translation (GO:0070129)2.91001433
71pyrimidine nucleoside salvage (GO:0043097)2.90101562
72pyrimidine-containing compound salvage (GO:0008655)2.90101562
73positive regulation of endothelial cell differentiation (GO:0045603)2.89696523
74negative regulation of thymocyte apoptotic process (GO:0070244)2.88628391
75intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)2.88195474
76signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)2.88195474
77lipopolysaccharide metabolic process (GO:0008653)2.87574061
78glycolytic process (GO:0006096)2.87551298
79embryonic skeletal joint morphogenesis (GO:0060272)2.87423381
80inner ear receptor cell differentiation (GO:0060113)2.85761228
81cell proliferation involved in kidney development (GO:0072111)2.83608794
82negative regulation of kidney development (GO:0090185)2.82836623
83signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)2.81209347
84signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)2.81209347
85signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)2.81209347
86antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.80023258
87GDP-mannose metabolic process (GO:0019673)2.74201025
88lung morphogenesis (GO:0060425)2.73243581
89signal transduction involved in DNA damage checkpoint (GO:0072422)2.72904108
90signal transduction involved in DNA integrity checkpoint (GO:0072401)2.72904108
91positive regulation of interleukin-8 secretion (GO:2000484)2.71330271
92fusion of sperm to egg plasma membrane (GO:0007342)2.70138621
93regulation of integrin-mediated signaling pathway (GO:2001044)2.70075064
94negative regulation of calcium ion transport into cytosol (GO:0010523)2.69443097
95signal transduction involved in cell cycle checkpoint (GO:0072395)2.66440858
96nucleotide transmembrane transport (GO:1901679)2.66128361
97positive regulation of TOR signaling (GO:0032008)2.64405088
98mesenchymal cell proliferation (GO:0010463)2.64369785
99respiratory tube development (GO:0030323)2.63255683
100retina homeostasis (GO:0001895)2.62279085

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse4.04862010
2TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.88568018
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.51076031
4RARG_19884340_ChIP-ChIP_MEFs_Mouse3.19983538
5NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.03375972
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.72852324
7MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.70162844
8CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.69211213
9ATF3_23680149_ChIP-Seq_GBM1-GSC_Human2.60233643
10HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.59084198
11HIF1A_21447827_ChIP-Seq_MCF-7_Human2.57982902
12DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.50794702
13KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.44189210
14GABP_17652178_ChIP-ChIP_JURKAT_Human2.34793852
15MYC_18358816_ChIP-ChIP_MESCs_Mouse2.27473690
16SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.24488163
17FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.18986412
18CREB1_15753290_ChIP-ChIP_HEK293T_Human2.12417553
19E2F1_18555785_ChIP-Seq_MESCs_Mouse2.10816293
20SRF_21415370_ChIP-Seq_HL-1_Mouse2.10039402
21TRIM28_21343339_ChIP-Seq_HEK293_Human2.01293907
22THAP11_20581084_ChIP-Seq_MESCs_Mouse2.00680647
23CEBPB_24764292_ChIP-Seq_MC3T3_Mouse1.99132419
24ETS1_20019798_ChIP-Seq_JURKAT_Human1.97307970
25POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.92130129
26EST1_17652178_ChIP-ChIP_JURKAT_Human1.85866559
27ELK3_25401928_ChIP-Seq_HUVEC_Human1.85331054
28NELFA_20434984_ChIP-Seq_ESCs_Mouse1.83307304
29ELF1_17652178_ChIP-ChIP_JURKAT_Human1.80984987
30DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.80801299
31CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.79673535
32CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.79027132
33PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.73765256
34NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.69348504
35KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.67038911
36MYC_18555785_ChIP-Seq_MESCs_Mouse1.66585425
37DCP1A_22483619_ChIP-Seq_HELA_Human1.66276414
38SRY_22984422_ChIP-ChIP_TESTIS_Rat1.65694146
39GABP_19822575_ChIP-Seq_HepG2_Human1.65122812
40SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.63814531
41MYC_19030024_ChIP-ChIP_MESCs_Mouse1.55765964
42* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.54563323
43TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.51804197
44ELK1_22589737_ChIP-Seq_MCF10A_Human1.47177569
45TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.46453052
46ZNF263_19887448_ChIP-Seq_K562_Human1.46026903
47XRN2_22483619_ChIP-Seq_HELA_Human1.45281925
48FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.43649668
49NANOG_18555785_ChIP-Seq_MESCs_Mouse1.41196952
50JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.40753306
51SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.40430852
52SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.40430852
53ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.39526999
54CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.38207795
55SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.36554139
56ATF3_27146783_Chip-Seq_COLON_Human1.35180293
57MYC_19079543_ChIP-ChIP_MESCs_Mouse1.34540462
58TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.34303604
59ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.33178179
60HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.32499344
61VDR_23849224_ChIP-Seq_CD4+_Human1.30910566
62RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.30671716
63PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.29724223
64CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.29313741
65SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.27965913
66CTCF_18555785_ChIP-Seq_MESCs_Mouse1.22005513
67HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.18615026
68TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.18585947
69HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.18083616
70NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.16393010
71CLOCK_20551151_ChIP-Seq_293T_Human1.16146277
72RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.15711257
73PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.15448092
74ZFX_18555785_ChIP-Seq_MESCs_Mouse1.14859556
75TFEB_21752829_ChIP-Seq_HELA_Human1.14296104
76PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.12469525
77ELK1_19687146_ChIP-ChIP_HELA_Human1.11917349
78BCL6_27268052_Chip-Seq_Bcells_Human1.11219721
79CSB_26484114_Chip-Seq_FIBROBLAST_Human1.11184009
80YY1_21170310_ChIP-Seq_MESCs_Mouse1.08362433
81HOXB4_20404135_ChIP-ChIP_EML_Mouse1.06410000
82TBX5_21415370_ChIP-Seq_HL-1_Mouse1.06146354
83SOX17_20123909_ChIP-Seq_XEN_Mouse1.05657059
84KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human1.04781998
85CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.04770147
86TET1_21451524_ChIP-Seq_MESCs_Mouse1.04701580
87PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.04484544
88STAT4_19710469_ChIP-ChIP_TH1__Mouse1.04139287
89BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.02788390
90BCOR_27268052_Chip-Seq_Bcells_Human1.02700826
91TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.02348459
92FOXM1_23109430_ChIP-Seq_U2OS_Human1.02136471
93RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.00076479
94MYBL2_22936984_ChIP-ChIP_MESCs_Mouse0.98875798
95TTF2_22483619_ChIP-Seq_HELA_Human0.98261444
96EOMES_21245162_ChIP-Seq_HESCs_Human0.97961026
97ESR1_17901129_ChIP-ChIP_LIVER_Mouse0.97611039
98RACK7_27058665_Chip-Seq_MCF-7_Human0.96989984
99SPI1_22096565_ChIP-ChIP_GC-B_Mouse0.95413665
100KLF4_18555785_ChIP-Seq_MESCs_Mouse0.95359523

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003123_paternal_imprinting4.65643787
2MP0005257_abnormal_intraocular_pressure4.42765072
3MP0003191_abnormal_cellular_cholesterol4.37703082
4MP0010030_abnormal_orbit_morphology3.79702563
5MP0000751_myopathy3.69418727
6MP0004510_myositis3.16996141
7MP0002877_abnormal_melanocyte_morpholog3.04669515
8MP0003315_abnormal_perineum_morphology3.00335451
9MP0005165_increased_susceptibility_to2.91607250
10MP0000750_abnormal_muscle_regeneration2.91513312
11MP0003950_abnormal_plasma_membrane2.86421629
12MP0001542_abnormal_bone_strength2.85710072
13MP0000749_muscle_degeneration2.67577750
14MP0004272_abnormal_basement_membrane2.66721635
15MP0005058_abnormal_lysosome_morphology2.55291404
16MP0003075_altered_response_to2.51500643
17MP0002332_abnormal_exercise_endurance2.50093588
18MP0003566_abnormal_cell_adhesion2.17950369
19MP0005367_renal/urinary_system_phenotyp2.16381377
20MP0000516_abnormal_urinary_system2.16381377
21MP0008775_abnormal_heart_ventricle2.00416954
22MP0005330_cardiomyopathy1.97288732
23MP0000343_altered_response_to1.95561093
24MP0009840_abnormal_foam_cell1.91237533
25MP0006054_spinal_hemorrhage1.85867491
26MP0001299_abnormal_eye_distance/1.83678237
27MP0000858_altered_metastatic_potential1.77745570
28MP0001853_heart_inflammation1.70429652
29MP0003806_abnormal_nucleotide_metabolis1.62060348
30MP0008260_abnormal_autophagy1.60835026
31MP0003786_premature_aging1.58682624
32MP0009780_abnormal_chondrocyte_physiolo1.50622398
33MP0008438_abnormal_cutaneous_collagen1.47412319
34MP0005360_urolithiasis1.45472399
35MP0003329_amyloid_beta_deposits1.35036984
36MP0005670_abnormal_white_adipose1.34456610
37MP0005464_abnormal_platelet_physiology1.32319826
38MP0002653_abnormal_ependyma_morphology1.28197379
39MP0002177_abnormal_outer_ear1.27486293
40MP0003436_decreased_susceptibility_to1.25591907
41MP0005197_abnormal_uvea_morphology1.24589496
42MP0003279_aneurysm1.24079329
43MP0000647_abnormal_sebaceous_gland1.20629658
44MP0003186_abnormal_redox_activity1.18275739
45MP0002972_abnormal_cardiac_muscle1.17440807
46MP0002060_abnormal_skin_morphology1.15767874
47MP0005166_decreased_susceptibility_to1.12028583
48MP0001905_abnormal_dopamine_level1.10966282
49MP0009697_abnormal_copulation1.09940436
50MP0001243_abnormal_dermal_layer1.08280016
51MP0003656_abnormal_erythrocyte_physiolo1.08270445
52MP0010368_abnormal_lymphatic_system1.05884079
53MP0004147_increased_porphyrin_level1.03962398
54MP0001533_abnormal_skeleton_physiology1.03071232
55MP0002282_abnormal_trachea_morphology1.01124883
56MP0003638_abnormal_response/metabolism_0.99597970
57MP0005584_abnormal_enzyme/coenzyme_acti0.98630324
58MP0008007_abnormal_cellular_replicative0.98381947
59MP0006036_abnormal_mitochondrial_physio0.95468110
60MP0000762_abnormal_tongue_morphology0.94317159
61MP0009333_abnormal_splenocyte_physiolog0.92980212
62MP0005083_abnormal_biliary_tract0.92351811
63MP0005164_abnormal_response_to0.91981217
64MP0001346_abnormal_lacrimal_gland0.87151825
65MP0002106_abnormal_muscle_physiology0.86581244
66MP0003195_calcinosis0.84664868
67MP0000747_muscle_weakness0.84615533
68MP0000534_abnormal_ureter_morphology0.83078571
69MP0000358_abnormal_cell_content/0.79977169
70MP0001727_abnormal_embryo_implantation0.79097657
71MP0003718_maternal_effect0.73650386
72MP0000604_amyloidosis0.71918516
73MP0005451_abnormal_body_composition0.71829966
74MP0002295_abnormal_pulmonary_circulatio0.69835586
75MP0009053_abnormal_anal_canal0.69207831
76MP0002837_dystrophic_cardiac_calcinosis0.68892883
77MP0004957_abnormal_blastocyst_morpholog0.66344311
78MP0000249_abnormal_blood_vessel0.64859170
79MP0005390_skeleton_phenotype0.64741590
80MP0003077_abnormal_cell_cycle0.63983206
81MP0008932_abnormal_embryonic_tissue0.62347421
82MP0008875_abnormal_xenobiotic_pharmacok0.61206232
83MP0003942_abnormal_urinary_system0.60478157
84MP0005023_abnormal_wound_healing0.60086764
85MP0003121_genomic_imprinting0.59773830
86MP0004233_abnormal_muscle_weight0.59725384
87MP0001879_abnormal_lymphatic_vessel0.58333045
88MP0009764_decreased_sensitivity_to0.58016412
89MP0002019_abnormal_tumor_incidence0.57724488
90MP0009278_abnormal_bone_marrow0.57656004
91MP0001340_abnormal_eyelid_morphology0.57273264
92MP0002006_tumorigenesis0.56611874
93MP0005501_abnormal_skin_physiology0.56524919
94MP0005266_abnormal_metabolism0.56006157
95MP0003091_abnormal_cell_migration0.55965130
96MP0001216_abnormal_epidermal_layer0.53842819
97MP0000613_abnormal_salivary_gland0.53478483
98MP0005395_other_phenotype0.52175468
99MP0003693_abnormal_embryo_hatching0.52118601
100MP0002796_impaired_skin_barrier0.48680593

Predicted human phenotypes

RankGene SetZ-score
1Amyloidosis (HP:0011034)6.03943551
2Glucose intolerance (HP:0000833)4.65282810
3Adrenal hypoplasia (HP:0000835)4.49065504
4Reduced subcutaneous adipose tissue (HP:0003758)4.37856136
5Premature rupture of membranes (HP:0001788)4.14426473
6Delayed CNS myelination (HP:0002188)4.09965349
7Osteolytic defects of the phalanges of the hand (HP:0009771)3.73353782
8Osteolytic defects of the hand bones (HP:0009699)3.73353782
9Microglossia (HP:0000171)3.68813167
10Upper limb muscle weakness (HP:0003484)3.58419008
11Distal lower limb muscle weakness (HP:0009053)3.50495597
12Vascular calcification (HP:0004934)3.49600352
13Hepatocellular necrosis (HP:0001404)3.35755499
14Short nail (HP:0001799)3.16089696
15Abnormal glucose tolerance (HP:0001952)3.15932689
16Axonal loss (HP:0003447)3.11642983
17Insulin resistance (HP:0000855)3.09092355
18Cardiovascular calcification (HP:0011915)3.06393443
19Hepatic necrosis (HP:0002605)3.04340665
20Increased serum pyruvate (HP:0003542)3.03821808
21Entropion (HP:0000621)3.02635333
22Cholecystitis (HP:0001082)3.00125051
23Abnormal gallbladder physiology (HP:0012438)3.00125051
24Mitochondrial inheritance (HP:0001427)2.97887660
25Vertebral compression fractures (HP:0002953)2.96567817
26Limb-girdle muscle atrophy (HP:0003797)2.94655898
27Joint hemorrhage (HP:0005261)2.89592405
28Abnormality of glycolysis (HP:0004366)2.84750276
29Abnormality of the distal phalanges of the toes (HP:0010182)2.79035727
30Rough bone trabeculation (HP:0100670)2.78447941
31Shoulder girdle muscle weakness (HP:0003547)2.76965912
32Abnormal mitochondria in muscle tissue (HP:0008316)2.74273761
33Abnormality of the hip-girdle musculature (HP:0001445)2.74210229
34Abnormality of the musculature of the pelvis (HP:0001469)2.74210229
35Type I transferrin isoform profile (HP:0003642)2.72262358
36Pelvic girdle muscle weakness (HP:0003749)2.72022085
37Acute necrotizing encephalopathy (HP:0006965)2.71114038
38Reduced antithrombin III activity (HP:0001976)2.70733958
39Distal lower limb amyotrophy (HP:0008944)2.69562394
40Hand muscle atrophy (HP:0009130)2.62626870
41Abnormality of the sella turcica (HP:0002679)2.56827744
42Myocardial infarction (HP:0001658)2.55337221
43Bifid uvula (HP:0000193)2.54527743
44Flat capital femoral epiphysis (HP:0003370)2.53235349
45Prolonged neonatal jaundice (HP:0006579)2.46460735
46Late onset (HP:0003584)2.44024535
47J-shaped sella turcica (HP:0002680)2.42377442
48Increased connective tissue (HP:0009025)2.38164793
49Hepatosplenomegaly (HP:0001433)2.38075178
50Exercise intolerance (HP:0003546)2.36515390
51Abnormality of liposaccharide metabolism (HP:0010968)2.35699094
52Abnormality of glycosphingolipid metabolism (HP:0004343)2.35699094
53Abnormality of glycolipid metabolism (HP:0010969)2.35699094
54Difficulty climbing stairs (HP:0003551)2.35479653
55Increased CSF lactate (HP:0002490)2.34189055
56Sparse eyelashes (HP:0000653)2.33062096
57Severe muscular hypotonia (HP:0006829)2.31940499
58Vacuolated lymphocytes (HP:0001922)2.31712759
59Congenital, generalized hypertrichosis (HP:0004540)2.31688948
60Secondary amenorrhea (HP:0000869)2.30899123
61Atrophic scars (HP:0001075)2.29453296
62Abnormal protein glycosylation (HP:0012346)2.28898049
63Abnormal glycosylation (HP:0012345)2.28898049
64Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.28898049
65Abnormal protein N-linked glycosylation (HP:0012347)2.28898049
66Elevated erythrocyte sedimentation rate (HP:0003565)2.26607966
67Short clavicles (HP:0000894)2.21804334
68Renal Fanconi syndrome (HP:0001994)2.20562528
69Palpitations (HP:0001962)2.18714077
70Fatigue (HP:0012378)2.18281612
71Down-sloping shoulders (HP:0200021)2.17773553
72Aplasia/Hypoplasia of the sacrum (HP:0008517)2.16061554
73Acute encephalopathy (HP:0006846)2.15966431
74Exertional dyspnea (HP:0002875)2.13952442
75Upper limb amyotrophy (HP:0009129)2.12839439
76Distal upper limb amyotrophy (HP:0007149)2.12839439
77Progressive macrocephaly (HP:0004481)2.12626078
78Bradycardia (HP:0001662)2.12267202
79Opisthotonus (HP:0002179)2.11980471
80Hypoalphalipoproteinemia (HP:0003233)2.09905763
81Dysostosis multiplex (HP:0000943)2.08570975
82Polygenic inheritance (HP:0010982)2.08531978
83Acanthosis nigricans (HP:0000956)2.08276611
84Abnormal autonomic nervous system physiology (HP:0012332)2.07217115
85Increased hepatocellular lipid droplets (HP:0006565)2.07015053
86Emotional lability (HP:0000712)2.06535097
87Increased intramyocellular lipid droplets (HP:0012240)2.03516812
88Impaired platelet aggregation (HP:0003540)2.03275868
89Abnormal platelet function (HP:0011869)2.03275868
90Abnormal spermatogenesis (HP:0008669)2.01467480
91Proximal placement of thumb (HP:0009623)2.00515038
92Joint stiffness (HP:0001387)1.98798059
93Neck muscle weakness (HP:0000467)1.96498983
94Testicular atrophy (HP:0000029)1.95407444
95Right ventricular cardiomyopathy (HP:0011663)1.94441025
96Natal tooth (HP:0000695)1.92199473
97Abnormal trabecular bone morphology (HP:0100671)1.91333335
98Progressive neurologic deterioration (HP:0002344)1.90209633
99Hypergonadotropic hypogonadism (HP:0000815)1.89868860
100Myoglobinuria (HP:0002913)1.88126428

Predicted kinase interactions (KEA)

RankGene SetZ-score
1TESK15.52327815
2VRK25.49210131
3TESK25.29060256
4NME24.65117348
5LIMK14.38508656
6EPHA23.96489777
7LMTK23.05503931
8ARAF2.82240783
9PIM22.41388531
10BUB12.32348589
11BCKDK2.11335602
12MAP2K71.99444565
13DAPK11.93678227
14ERN11.90309588
15STK101.57056186
16PHKG11.55693620
17PHKG21.55693620
18TAOK21.55152012
19MOS1.45259165
20IRAK31.41734834
21VRK11.34005546
22PAK41.33765523
23KDR1.33265262
24ABL21.29193266
25MAPKAPK31.23817939
26MAP3K121.22145972
27CSNK1G31.17350462
28MST1R1.15088509
29SRPK11.11886107
30TAF11.10123182
31CSNK1A1L1.06321898
32HIPK21.05334681
33ERBB41.03403107
34MST41.03124630
35STK160.96470308
36NEK10.96422508
37PTK2B0.92401327
38MAP3K110.91730215
39GRK50.90444893
40EPHB20.87410870
41PTK20.85393011
42CSNK1G20.84243777
43CCNB10.82713476
44CSNK1G10.82337044
45BRSK10.79854071
46AURKA0.77889968
47SCYL20.77797871
48TGFBR20.76801145
49BRAF0.71766348
50MYLK0.70790630
51PRPF4B0.69086295
52PAK10.68578735
53TBK10.68518173
54ILK0.67848254
55DAPK30.66078499
56DAPK20.64323873
57LRRK20.63426583
58GRK70.63057479
59MAP3K30.61671459
60NUAK10.61233641
61BMX0.57391076
62EPHB10.57126260
63CDK80.53779053
64CDK140.49354077
65SMG10.48813254
66PDK20.48453493
67CDK70.44185038
68PRKCI0.42029942
69CDK150.41786420
70CDK180.41654761
71CDK190.41597897
72CDK11A0.40231859
73RAF10.39631659
74MAPKAPK20.35677164
75EIF2AK20.35268547
76ADRBK10.33832833
77MET0.33822292
78EPHA40.33061673
79GSK3A0.33052730
80PLK10.32545169
81AURKB0.32475963
82PLK30.32196307
83FER0.31330501
84CAMKK20.25807142
85MAPKAPK50.24470726
86CSNK2A20.24274356
87ICK0.21356778
88CDC70.20924573
89PTK60.20371891
90RPS6KA50.19952607
91MAP3K80.19661321
92CAMK2G0.17489806
93IKBKE0.16880117
94PRKD10.15778833
95PRKACB0.15667133
96ROCK20.15621032
97PBK0.13513051
98MAP3K60.11959908
99ROCK10.11655938
100CSNK1A10.09609648

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.78112113
2DNA replication_Homo sapiens_hsa030303.20141616
3Oxidative phosphorylation_Homo sapiens_hsa001903.13240979
4Fatty acid elongation_Homo sapiens_hsa000622.74754798
5Folate biosynthesis_Homo sapiens_hsa007902.62857426
6Parkinsons disease_Homo sapiens_hsa050122.62029797
7Sulfur relay system_Homo sapiens_hsa041222.53344535
8Base excision repair_Homo sapiens_hsa034102.34483813
9Mismatch repair_Homo sapiens_hsa034302.33246695
10Huntingtons disease_Homo sapiens_hsa050162.30473495
11RNA polymerase_Homo sapiens_hsa030202.20984219
12Alzheimers disease_Homo sapiens_hsa050102.18654458
13Pyrimidine metabolism_Homo sapiens_hsa002402.15871271
14Galactose metabolism_Homo sapiens_hsa000522.14786382
15Pentose phosphate pathway_Homo sapiens_hsa000302.06806551
16Primary bile acid biosynthesis_Homo sapiens_hsa001202.05641001
17Citrate cycle (TCA cycle)_Homo sapiens_hsa000202.05359231
18Glutathione metabolism_Homo sapiens_hsa004801.97291418
19Biosynthesis of amino acids_Homo sapiens_hsa012301.91091429
20Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.85537795
21Ribosome_Homo sapiens_hsa030101.83917367
22Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.83069078
23Fructose and mannose metabolism_Homo sapiens_hsa000511.81723029
24Nucleotide excision repair_Homo sapiens_hsa034201.76938461
252-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.76852034
26* Salivary secretion_Homo sapiens_hsa049701.64123218
27Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.60408075
28Glycosaminoglycan degradation_Homo sapiens_hsa005311.57043579
29Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.55862254
30Pyruvate metabolism_Homo sapiens_hsa006201.51845218
31N-Glycan biosynthesis_Homo sapiens_hsa005101.50137725
32Carbon metabolism_Homo sapiens_hsa012001.47057716
33Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.42056032
34Vibrio cholerae infection_Homo sapiens_hsa051101.38658250
35Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.34914026
36Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.27215583
37Homologous recombination_Homo sapiens_hsa034401.24875707
38Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.21201157
39Other glycan degradation_Homo sapiens_hsa005111.16488375
40SNARE interactions in vesicular transport_Homo sapiens_hsa041301.16062196
41Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.15336734
42Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.10342379
43Lysosome_Homo sapiens_hsa041421.06832801
44Protein processing in endoplasmic reticulum_Homo sapiens_hsa041411.02308991
45Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007601.01066715
46Purine metabolism_Homo sapiens_hsa002300.99638333
47Cardiac muscle contraction_Homo sapiens_hsa042600.93347263
48Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.85108681
49Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.85097424
50Shigellosis_Homo sapiens_hsa051310.84673173
51Apoptosis_Homo sapiens_hsa042100.81506565
52Cyanoamino acid metabolism_Homo sapiens_hsa004600.79595092
53Metabolic pathways_Homo sapiens_hsa011000.76533443
54Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.76204359
55Drug metabolism - other enzymes_Homo sapiens_hsa009830.75119745
56Endocytosis_Homo sapiens_hsa041440.64748194
57Cysteine and methionine metabolism_Homo sapiens_hsa002700.61952053
58Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.61665192
59Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.59951661
60Steroid biosynthesis_Homo sapiens_hsa001000.54947893
61RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.53601977
62Epstein-Barr virus infection_Homo sapiens_hsa051690.51100543
63Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.50140507
64Peroxisome_Homo sapiens_hsa041460.49407511
65Starch and sucrose metabolism_Homo sapiens_hsa005000.49161776
66Synaptic vesicle cycle_Homo sapiens_hsa047210.49004345
67Tyrosine metabolism_Homo sapiens_hsa003500.48813793
68p53 signaling pathway_Homo sapiens_hsa041150.48113878
69Phenylalanine metabolism_Homo sapiens_hsa003600.47678818
70Salmonella infection_Homo sapiens_hsa051320.47413096
71Viral myocarditis_Homo sapiens_hsa054160.44322239
72Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.43145352
73Complement and coagulation cascades_Homo sapiens_hsa046100.41823910
74Arachidonic acid metabolism_Homo sapiens_hsa005900.41680183
75Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.40970123
76Sulfur metabolism_Homo sapiens_hsa009200.40125870
77Spliceosome_Homo sapiens_hsa030400.38577019
78Cell cycle_Homo sapiens_hsa041100.35425184
79NF-kappa B signaling pathway_Homo sapiens_hsa040640.34488167
80Mineral absorption_Homo sapiens_hsa049780.34077746
81Propanoate metabolism_Homo sapiens_hsa006400.33373810
82Central carbon metabolism in cancer_Homo sapiens_hsa052300.32886092
83Steroid hormone biosynthesis_Homo sapiens_hsa001400.32659811
84Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.32583819
85Bladder cancer_Homo sapiens_hsa052190.31652115
86Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.30389308
87Arginine and proline metabolism_Homo sapiens_hsa003300.25196345
88Protein export_Homo sapiens_hsa030600.25058597
89Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.24595130
90Chemical carcinogenesis_Homo sapiens_hsa052040.24581278
91Phagosome_Homo sapiens_hsa041450.23371498
92HIF-1 signaling pathway_Homo sapiens_hsa040660.22995301
93Non-homologous end-joining_Homo sapiens_hsa034500.21953384
94Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.21496580
95Basal cell carcinoma_Homo sapiens_hsa052170.20002612
96Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.19476235
97RNA transport_Homo sapiens_hsa030130.19246359
98Legionellosis_Homo sapiens_hsa051340.17118811
99Fatty acid metabolism_Homo sapiens_hsa012120.16717981
100Proteoglycans in cancer_Homo sapiens_hsa052050.15986149

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