CST1

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 cysteine proteinase inhibitor found in saliva, tears, urine, and seminal fluid. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1protein maturation by protein folding (GO:0022417)8.65230359
2establishment of viral latency (GO:0019043)7.70463298
3establishment of integrated proviral latency (GO:0075713)7.57124763
4extracellular fibril organization (GO:0043206)6.73070140
5fibril organization (GO:0097435)5.64371174
6response to gravity (GO:0009629)5.32487754
7positive regulation of actin filament depolymerization (GO:0030836)5.26228185
8mitotic nuclear envelope reassembly (GO:0007084)5.23045602
9nuclear envelope reassembly (GO:0031468)5.23045602
10* detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)5.20744532
11negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)5.12429253
12DNA unwinding involved in DNA replication (GO:0006268)4.80999237
13endothelial tube morphogenesis (GO:0061154)4.78222575
14morphogenesis of an endothelium (GO:0003159)4.78222575
15regulation of metalloenzyme activity (GO:0048552)4.56399687
16muscle cell migration (GO:0014812)4.36336092
17negative regulation of glycoprotein metabolic process (GO:1903019)4.34419427
18negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)4.32196247
19* detection of chemical stimulus involved in sensory perception of taste (GO:0050912)4.22568870
20proteasome assembly (GO:0043248)4.14470236
21deoxyribonucleoside monophosphate metabolic process (GO:0009162)4.12943440
22positive regulation of pseudopodium assembly (GO:0031274)4.12381115
23sequestering of actin monomers (GO:0042989)4.04622927
24actin filament depolymerization (GO:0030042)4.00655941
25barbed-end actin filament capping (GO:0051016)3.98193526
26response to interferon-beta (GO:0035456)3.93572113
27type B pancreatic cell proliferation (GO:0044342)3.85843323
28regulation of pseudopodium assembly (GO:0031272)3.69171015
29COPI coating of Golgi vesicle (GO:0048205)3.68147542
30Golgi transport vesicle coating (GO:0048200)3.68147542
31negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)3.62839928
32mesenchymal cell differentiation involved in renal system development (GO:2001012)3.61965888
33mesenchymal cell differentiation involved in kidney development (GO:0072161)3.61965888
34galactose catabolic process (GO:0019388)3.60637351
35protein retention in ER lumen (GO:0006621)3.50311142
36negative regulation of phosphoprotein phosphatase activity (GO:0032515)3.49805529
37negative regulation of release of cytochrome c from mitochondria (GO:0090201)3.47358740
38heterochromatin organization (GO:0070828)3.43486294
39positive regulation of mitochondrial calcium ion concentration (GO:0051561)3.41873411
40positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)3.40943693
41pattern specification involved in kidney development (GO:0061004)3.33745791
42nucleoside transmembrane transport (GO:1901642)3.33355007
43membrane raft organization (GO:0031579)3.32608334
44regulation of cellular amino acid metabolic process (GO:0006521)3.30394942
45cellular copper ion homeostasis (GO:0006878)3.28832001
46positive regulation of protein complex disassembly (GO:0043243)3.25921573
47regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)3.25227541
48DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:003.23349335
49negative regulation of ubiquitin-protein transferase activity (GO:0051444)3.22914376
50negative regulation of ligase activity (GO:0051352)3.22914376
51cellular response to zinc ion (GO:0071294)3.22599585
52lipopolysaccharide biosynthetic process (GO:0009103)3.22041917
53anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:03.15256359
54intracellular signal transduction involved in G1 DNA damage checkpoint (GO:1902400)3.14026817
55signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)3.14026817
56regulation of mitochondrial translation (GO:0070129)3.09890928
57maintenance of protein localization in endoplasmic reticulum (GO:0035437)3.09189611
58signal transduction involved in mitotic cell cycle checkpoint (GO:0072413)3.06574423
59signal transduction involved in mitotic DNA integrity checkpoint (GO:1902403)3.06574423
60signal transduction involved in mitotic DNA damage checkpoint (GO:1902402)3.06574423
61retina homeostasis (GO:0001895)3.03897561
62cortical actin cytoskeleton organization (GO:0030866)3.01223381
63myoblast migration (GO:0051451)2.99359511
64mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)2.98715942
65endosome to melanosome transport (GO:0035646)2.98488644
66endosome to pigment granule transport (GO:0043485)2.98488644
67signal transduction involved in DNA integrity checkpoint (GO:0072401)2.97399199
68signal transduction involved in DNA damage checkpoint (GO:0072422)2.97399199
69galactose metabolic process (GO:0006012)2.97295522
70antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:2.95816683
71pyrimidine nucleoside salvage (GO:0043097)2.94299605
72pyrimidine-containing compound salvage (GO:0008655)2.94299605
73signal transduction involved in cell cycle checkpoint (GO:0072395)2.90848942
74GDP-mannose metabolic process (GO:0019673)2.88058103
75chaperone-mediated protein transport (GO:0072321)2.87652452
76negative regulation of mitochondrion organization (GO:0010823)2.85960771
77negative regulation of calcium ion transport into cytosol (GO:0010523)2.85664836
78telomere maintenance via semi-conservative replication (GO:0032201)2.85257023
79fibrinolysis (GO:0042730)2.84243609
80transcription elongation from RNA polymerase III promoter (GO:0006385)2.81821271
81termination of RNA polymerase III transcription (GO:0006386)2.81821271
82mitochondrial ATP synthesis coupled proton transport (GO:0042776)2.79498168
83glycolytic process (GO:0006096)2.79010754
84positive regulation of ubiquitin-protein transferase activity (GO:0051443)2.78783725
85glomerular visceral epithelial cell development (GO:0072015)2.76315715
86positive regulation of interleukin-8 secretion (GO:2000484)2.75784712
87virion assembly (GO:0019068)2.74174970
88response to copper ion (GO:0046688)2.74014105
89protein complex biogenesis (GO:0070271)2.73616844
90antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)2.73319948
91fusion of sperm to egg plasma membrane (GO:0007342)2.73079603
92base-excision repair (GO:0006284)2.70051625
93ATP synthesis coupled proton transport (GO:0015986)2.68476990
94energy coupled proton transport, down electrochemical gradient (GO:0015985)2.68476990
95response to interferon-alpha (GO:0035455)2.67512238
96cortical cytoskeleton organization (GO:0030865)2.67260856
97regulation of cell aging (GO:0090342)2.67181233
98heme biosynthetic process (GO:0006783)2.65344541
99AMP metabolic process (GO:0046033)2.64838682
100regulation of extracellular matrix disassembly (GO:0010715)2.64724213

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat3.91199068
2TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse3.86032458
3EKLF_21900194_ChIP-Seq_ERYTHROCYTE_Mouse3.54828407
4NOTCH1_17114293_ChIP-ChIP_T-ALL_Human3.05200029
5RARG_19884340_ChIP-ChIP_MEFs_Mouse3.03531575
6JARID1A_20064375_ChIP-Seq_MESCs_Mouse2.79464708
7HCFC1_20581084_ChIP-Seq_MESCs_Mouse2.73475925
8MYBL1_21750041_ChIP-ChIP_SPERMATOCYTES_Mouse2.55989320
9CIITA_18437201_ChIP-ChIP_Raji_B_and_iDC_Human2.54786465
10DACH1_20351289_ChIP-Seq_MDA-MB-231_Human2.53263447
11ATF3_23680149_ChIP-Seq_GBM1-GSC_Human2.44621160
12KDM6A_18722178_ChIP-ChIP_U937_AND_SAOS2_Human2.43329560
13GABP_17652178_ChIP-ChIP_JURKAT_Human2.38114263
14HIF1A_21447827_ChIP-Seq_MCF-7_Human2.37327090
15SOX9_22984422_ChIP-ChIP_TESTIS_Rat2.34880010
16MYC_18358816_ChIP-ChIP_MESCs_Mouse2.32978342
17FOXM1_25889361_ChIP-Seq_OE33_AND_U2OS_Human2.22336849
18CREB1_15753290_ChIP-ChIP_HEK293T_Human2.15567727
19THAP11_20581084_ChIP-Seq_MESCs_Mouse2.11817055
20E2F1_18555785_ChIP-Seq_MESCs_Mouse2.07928084
21SRF_21415370_ChIP-Seq_HL-1_Mouse2.07575182
22ETS1_20019798_ChIP-Seq_JURKAT_Human2.05662124
23CEBPB_24764292_ChIP-Seq_MC3T3_Mouse2.02510540
24EST1_17652178_ChIP-ChIP_JURKAT_Human1.91034571
25ELF1_17652178_ChIP-ChIP_JURKAT_Human1.89889870
26CHD1_19587682_ChIP-ChIP_MESCs_Mouse1.85204001
27PDX1_19855005_ChIP-ChIP_MIN6_Mouse1.83448059
28CCND1_20090754_ChIP-ChIP_RETINA_Mouse1.82818328
29NELFA_20434984_ChIP-Seq_ESCs_Mouse1.81518234
30POU5F1_18700969_ChIP-ChIP_MESCs_Mouse1.81389967
31TRIM28_21343339_ChIP-Seq_HEK293_Human1.79476870
32MYC_18555785_ChIP-Seq_MESCs_Mouse1.78948169
33DMRT1_21621532_ChIP-ChIP_FETAL_Ovary1.77353217
34* ELK3_25401928_ChIP-Seq_HUVEC_Human1.75906150
35DCP1A_22483619_ChIP-Seq_HELA_Human1.71642766
36SRY_22984422_ChIP-ChIP_TESTIS_Rat1.71581151
37GABP_19822575_ChIP-Seq_HepG2_Human1.70359868
38NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human1.69570313
39KLF4_18358816_ChIP-ChIP_MESCs_Mouse1.64150224
40MYC_19030024_ChIP-ChIP_MESCs_Mouse1.62218454
41TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.61922621
42ZNF263_19887448_ChIP-Seq_K562_Human1.57641283
43XRN2_22483619_ChIP-Seq_HELA_Human1.56113508
44FLI1_20887958_ChIP-Seq_HPC-7_Mouse1.49546495
45CEBPB_23403033_ChIP-Seq_LIVER_Mouse1.47802396
46ZFP42_18358816_ChIP-ChIP_MESCs_Mouse1.42976051
47MYC_19079543_ChIP-ChIP_MESCs_Mouse1.42209771
48SMAD4_19686287_ChIP-ChIP_HaCaT_Human1.41656072
49* JUND_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.38758208
50HSF1_23293686_ChIP-Seq_STHDH_STRIATAL_Mouse1.38124247
51NANOG_18555785_ChIP-Seq_MESCs_Mouse1.37513956
52ELK1_22589737_ChIP-Seq_MCF10A_Human1.37213521
53CEBPA_23403033_ChIP-Seq_LIVER_Mouse1.36174681
54SPI1_22790984_ChIP-Seq_ERYTHROLEUKEMIA_Mouse1.34865401
55ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.34600741
56VDR_23849224_ChIP-Seq_CD4+_Human1.34320115
57TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.33492823
58ATF3_27146783_Chip-Seq_COLON_Human1.31456604
59RELA_24523406_ChIP-Seq_FIBROSARCOMA_Human1.29240122
60CTCF_18555785_ChIP-Seq_MESCs_Mouse1.26733563
61TAL1_20887958_ChIP-Seq_HPC-7_Mouse1.24492029
62TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.23651416
63SMAD2_18955504_ChIP-ChIP_HaCaT_Human1.22786216
64SMAD3_18955504_ChIP-ChIP_HaCaT_Human1.22786216
65SMARCA4_20176728_ChIP-ChIP_TSCs_Mouse1.22321835
66HOXC9_25013753_ChIP-Seq_NEUROBLASTOMA_BE2-C_Human1.21739379
67PPARG_19300518_ChIP-PET_3T3-L1_Mouse1.18677491
68BCL6_27268052_Chip-Seq_Bcells_Human1.17945841
69* JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.15534896
70NR0B1_18358816_ChIP-ChIP_MESCs_Mouse1.15484667
71YY1_21170310_ChIP-Seq_MESCs_Mouse1.15102387
72ZFX_18555785_ChIP-Seq_MESCs_Mouse1.14150801
73TET1_21451524_ChIP-Seq_MESCs_Mouse1.13235175
74PRDM5_23873026_ChIP-Seq_MEFs_Mouse1.12797946
75FOXM1_23109430_ChIP-Seq_U2OS_Human1.11817918
76HNF4A_19761587_ChIP-ChIP_CACO-2_Human1.10220234
77BCOR_27268052_Chip-Seq_Bcells_Human1.09881008
78RUNX2_24764292_ChIP-Seq_MC3T3_Mouse1.08494712
79STAT4_19710469_ChIP-ChIP_TH1__Mouse1.08385966
80ELK1_19687146_ChIP-ChIP_HELA_Human1.08236446
81HOXB4_20404135_ChIP-ChIP_EML_Mouse1.07738355
82TBX5_21415370_ChIP-Seq_HL-1_Mouse1.07265025
83PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.05815538
84SPI1_22096565_ChIP-ChIP_GC-B_Mouse1.05633072
85CUX1_19635798_ChIP-ChIP_MULTIPLE_HUMAN_CANCER_TYPES_Human1.04285266
86PPARG_23326641_ChIP-Seq_C3H10T1-2_Mouse1.04098887
87TFEB_21752829_ChIP-Seq_HELA_Human1.03450780
88EBNA2_21746931_ChIP-Seq_IB4-LCL_Human1.03425691
89RUNX1_20887958_ChIP-Seq_HPC-7_Mouse1.02889988
90MYBL2_22936984_ChIP-ChIP_MESCs_Mouse1.02224648
91BCL3_23251550_ChIP-Seq_MUSCLE_Mouse1.02178025
92TCFAP2C_20176728_ChIP-ChIP_TROPHOBLAST_STEM_CELLS_Mouse1.01605102
93TTF2_22483619_ChIP-Seq_HELA_Human1.00842999
94ELF1_20517297_ChIP-Seq_JURKAT_Human1.00558955
95VDR_21846776_ChIP-Seq_THP-1_Human0.99818108
96ASXL1_24218140_ChIP-Seq_BMDM_Mouse0.99455380
97FOXP1_21924763_ChIP-Seq_HESCs_Human0.98451297
98RACK7_27058665_Chip-Seq_MCF-7_Human0.98017637
99FOXP3_21729870_ChIP-Seq_TREG_Human0.97643644
100OCT4_18692474_ChIP-Seq_MEFs_Mouse0.96934502

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0003123_paternal_imprinting4.93314560
2MP0003191_abnormal_cellular_cholesterol4.44350028
3MP0010030_abnormal_orbit_morphology3.64321787
4MP0000751_myopathy3.51739072
5MP0005257_abnormal_intraocular_pressure3.28702537
6MP0004510_myositis3.19578920
7MP0000750_abnormal_muscle_regeneration3.10611411
8MP0003950_abnormal_plasma_membrane2.85035658
9MP0005165_increased_susceptibility_to2.82645721
10MP0003075_altered_response_to2.72631219
11MP0005058_abnormal_lysosome_morphology2.64581065
12MP0002877_abnormal_melanocyte_morpholog2.62603321
13MP0001542_abnormal_bone_strength2.59621351
14MP0000749_muscle_degeneration2.57989613
15MP0004272_abnormal_basement_membrane2.47058970
16MP0002332_abnormal_exercise_endurance2.41643985
17MP0003315_abnormal_perineum_morphology2.41620956
18MP0003566_abnormal_cell_adhesion2.22593512
19MP0005330_cardiomyopathy2.15260295
20MP0000343_altered_response_to2.09099084
21MP0009840_abnormal_foam_cell2.03673802
22MP0005367_renal/urinary_system_phenotyp1.89995346
23MP0000516_abnormal_urinary_system1.89995346
24MP0000858_altered_metastatic_potential1.82488826
25MP0001853_heart_inflammation1.77437129
26MP0001299_abnormal_eye_distance/1.70348582
27MP0005360_urolithiasis1.65685492
28MP0006054_spinal_hemorrhage1.61308429
29MP0003786_premature_aging1.61167257
30MP0008260_abnormal_autophagy1.59916988
31MP0002653_abnormal_ependyma_morphology1.59813450
32MP0003329_amyloid_beta_deposits1.57281125
33MP0003186_abnormal_redox_activity1.52489989
34MP0008775_abnormal_heart_ventricle1.48972048
35MP0005464_abnormal_platelet_physiology1.46928081
36MP0003806_abnormal_nucleotide_metabolis1.45647623
37MP0003436_decreased_susceptibility_to1.44498267
38MP0005670_abnormal_white_adipose1.42046484
39MP0008438_abnormal_cutaneous_collagen1.34027895
40MP0004147_increased_porphyrin_level1.32576307
41MP0009780_abnormal_chondrocyte_physiolo1.28064172
42MP0005166_decreased_susceptibility_to1.27617832
43MP0009697_abnormal_copulation1.25494923
44MP0002972_abnormal_cardiac_muscle1.21453214
45MP0009333_abnormal_splenocyte_physiolog1.18613791
46MP0001346_abnormal_lacrimal_gland1.16651362
47MP0002177_abnormal_outer_ear1.16379958
48MP0006036_abnormal_mitochondrial_physio1.15686729
49MP0002060_abnormal_skin_morphology1.14345032
50MP0001243_abnormal_dermal_layer1.13881812
51MP0003279_aneurysm1.12935237
52MP0005197_abnormal_uvea_morphology1.12427480
53MP0000647_abnormal_sebaceous_gland1.12221242
54MP0008007_abnormal_cellular_replicative1.07481909
55MP0005584_abnormal_enzyme/coenzyme_acti1.05847642
56MP0003656_abnormal_erythrocyte_physiolo1.04316274
57MP0001533_abnormal_skeleton_physiology1.04262913
58MP0005083_abnormal_biliary_tract1.02923893
59MP0003718_maternal_effect0.99238574
60MP0010368_abnormal_lymphatic_system0.98306196
61MP0002282_abnormal_trachea_morphology0.98138601
62MP0003638_abnormal_response/metabolism_0.96304084
63MP0002106_abnormal_muscle_physiology0.90229940
64MP0000358_abnormal_cell_content/0.88538844
65MP0002837_dystrophic_cardiac_calcinosis0.87503533
66MP0005164_abnormal_response_to0.85963264
67MP0001905_abnormal_dopamine_level0.85789584
68MP0009764_decreased_sensitivity_to0.85685342
69MP0004957_abnormal_blastocyst_morpholog0.83543349
70MP0000762_abnormal_tongue_morphology0.83452088
71MP0003077_abnormal_cell_cycle0.82241653
72MP0005501_abnormal_skin_physiology0.80968784
73MP0000747_muscle_weakness0.78279853
74MP0003693_abnormal_embryo_hatching0.76332877
75MP0000604_amyloidosis0.75950521
76MP0005451_abnormal_body_composition0.75401653
77MP0008932_abnormal_embryonic_tissue0.75206319
78MP0009053_abnormal_anal_canal0.73420706
79MP0002148_abnormal_hypersensitivity_rea0.73387558
80MP0000249_abnormal_blood_vessel0.72947035
81MP0002295_abnormal_pulmonary_circulatio0.71686127
82MP0002796_impaired_skin_barrier0.71576503
83MP0000534_abnormal_ureter_morphology0.70676971
84MP0009278_abnormal_bone_marrow0.70150657
85MP0003121_genomic_imprinting0.68944152
86MP0005023_abnormal_wound_healing0.66840754
87MP0005390_skeleton_phenotype0.66652700
88MP0002019_abnormal_tumor_incidence0.66221739
89MP0002006_tumorigenesis0.65378533
90MP0003091_abnormal_cell_migration0.65217368
91MP0001216_abnormal_epidermal_layer0.62915442
92MP0008058_abnormal_DNA_repair0.60455156
93MP0008469_abnormal_protein_level0.59010045
94MP0005395_other_phenotype0.58593197
95MP0005266_abnormal_metabolism0.57683063
96MP0003453_abnormal_keratinocyte_physiol0.56326750
97MP0000613_abnormal_salivary_gland0.55449998
98MP0010771_integument_phenotype0.54038266
99MP0002998_abnormal_bone_remodeling0.53866692
100MP0005084_abnormal_gallbladder_morpholo0.53612671

Predicted human phenotypes

RankGene SetZ-score
1Amyloidosis (HP:0011034)6.07699565
2Glucose intolerance (HP:0000833)4.42236052
3Reduced subcutaneous adipose tissue (HP:0003758)4.27817501
4Adrenal hypoplasia (HP:0000835)4.02263627
5Hepatocellular necrosis (HP:0001404)3.83335463
6Premature rupture of membranes (HP:0001788)3.77132004
7Delayed CNS myelination (HP:0002188)3.59504282
8Distal lower limb muscle weakness (HP:0009053)3.47623811
9Hepatic necrosis (HP:0002605)3.43333742
10Mitochondrial inheritance (HP:0001427)3.43119721
11Osteolytic defects of the phalanges of the hand (HP:0009771)3.32053178
12Osteolytic defects of the hand bones (HP:0009699)3.32053178
13Microglossia (HP:0000171)3.26343948
14Upper limb muscle weakness (HP:0003484)3.25135529
15Axonal loss (HP:0003447)3.22651678
16Abnormal gallbladder physiology (HP:0012438)3.20320607
17Cholecystitis (HP:0001082)3.20320607
18Increased serum pyruvate (HP:0003542)3.19502651
19Insulin resistance (HP:0000855)3.16151337
20Abnormal mitochondria in muscle tissue (HP:0008316)3.10702775
21Acute necrotizing encephalopathy (HP:0006965)3.10477220
22Vascular calcification (HP:0004934)3.08946090
23Vertebral compression fractures (HP:0002953)2.99848695
24Abnormality of glycolysis (HP:0004366)2.98865601
25Abnormal glucose tolerance (HP:0001952)2.95801997
26Joint hemorrhage (HP:0005261)2.78776900
27Late onset (HP:0003584)2.78623748
28Elevated erythrocyte sedimentation rate (HP:0003565)2.77794615
29Entropion (HP:0000621)2.77731603
30Rough bone trabeculation (HP:0100670)2.77437226
31Type I transferrin isoform profile (HP:0003642)2.73614514
32Limb-girdle muscle atrophy (HP:0003797)2.72869923
33Increased CSF lactate (HP:0002490)2.71513789
34Short nail (HP:0001799)2.71216598
35Cardiovascular calcification (HP:0011915)2.68777917
36Hand muscle atrophy (HP:0009130)2.66166141
37Reduced antithrombin III activity (HP:0001976)2.66092367
38Flat capital femoral epiphysis (HP:0003370)2.62855153
39Shoulder girdle muscle weakness (HP:0003547)2.59870027
40Exercise intolerance (HP:0003546)2.59820069
41Pelvic girdle muscle weakness (HP:0003749)2.54864166
42Distal lower limb amyotrophy (HP:0008944)2.54021422
43Abnormality of the hip-girdle musculature (HP:0001445)2.53342348
44Abnormality of the musculature of the pelvis (HP:0001469)2.53342348
45Acute encephalopathy (HP:0006846)2.51883933
46Abnormality of the distal phalanges of the toes (HP:0010182)2.47134660
47Hepatosplenomegaly (HP:0001433)2.46719818
48Renal Fanconi syndrome (HP:0001994)2.46469767
49Progressive macrocephaly (HP:0004481)2.44347996
50Bifid uvula (HP:0000193)2.42757650
51Exertional dyspnea (HP:0002875)2.42049204
52Prolonged neonatal jaundice (HP:0006579)2.41504304
53Increased hepatocellular lipid droplets (HP:0006565)2.41072674
54Vacuolated lymphocytes (HP:0001922)2.35535808
55J-shaped sella turcica (HP:0002680)2.33908377
56Sparse eyelashes (HP:0000653)2.33631281
57Abnormal protein glycosylation (HP:0012346)2.33409899
58Abnormal glycosylation (HP:0012345)2.33409899
59Abnormal isoelectric focusing of serum transferrin (HP:0003160)2.33409899
60Abnormal protein N-linked glycosylation (HP:0012347)2.33409899
61Secondary amenorrhea (HP:0000869)2.31084969
62Opisthotonus (HP:0002179)2.30208359
63Atrophic scars (HP:0001075)2.28891427
64Increased intramyocellular lipid droplets (HP:0012240)2.28200992
65Difficulty climbing stairs (HP:0003551)2.24661842
66Aplasia/Hypoplasia of the sacrum (HP:0008517)2.21436434
67Distal upper limb amyotrophy (HP:0007149)2.19369593
68Upper limb amyotrophy (HP:0009129)2.19369593
69Abnormality of the sella turcica (HP:0002679)2.18617665
70Polygenic inheritance (HP:0010982)2.17651634
71Increased connective tissue (HP:0009025)2.15935359
72Short clavicles (HP:0000894)2.15217042
73Testicular atrophy (HP:0000029)2.14231010
74Emotional lability (HP:0000712)2.13223371
75Severe muscular hypotonia (HP:0006829)2.13169445
76Fatigue (HP:0012378)2.10270300
77Abnormal autonomic nervous system physiology (HP:0012332)2.09826101
78Myocardial infarction (HP:0001658)2.07770207
79Abnormal spermatogenesis (HP:0008669)2.07328157
80Down-sloping shoulders (HP:0200021)2.07319811
81Muscle stiffness (HP:0003552)2.06668972
82Increased serum lactate (HP:0002151)2.06239343
83Lactic acidosis (HP:0003128)2.05884197
84Acanthosis nigricans (HP:0000956)2.04240695
85Dysostosis multiplex (HP:0000943)1.99808339
86Hypoplastic pelvis (HP:0008839)1.99322924
87Abnormal platelet function (HP:0011869)1.97560156
88Impaired platelet aggregation (HP:0003540)1.97560156
89Joint stiffness (HP:0001387)1.94671270
90Congenital, generalized hypertrichosis (HP:0004540)1.93280773
91Progressive neurologic deterioration (HP:0002344)1.92540175
92Muscle abnormality related to mitochondrial dysfunction (HP:0003800)1.91526645
93Increased muscle lipid content (HP:0009058)1.91082839
94Abnormal trabecular bone morphology (HP:0100671)1.90718447
95Lipid accumulation in hepatocytes (HP:0006561)1.90038003
96Respiratory failure (HP:0002878)1.89562818
97Onycholysis (HP:0001806)1.89478483
98Bradycardia (HP:0001662)1.88880985
99Neck muscle weakness (HP:0000467)1.88787094
100Dysautonomia (HP:0002459)1.87369534

Predicted kinase interactions (KEA)

RankGene SetZ-score
1VRK25.75302067
2TESK15.47156164
3TESK25.36972806
4NME24.46534521
5LIMK14.28970490
6EPHA23.56739758
7LMTK23.05920970
8ARAF2.93369633
9PIM22.49114443
10BUB12.48447164
11MAP2K72.15332680
12BCKDK2.11917842
13ERN12.02244237
14DAPK12.01772139
15IRAK31.78380471
16TAOK21.66368076
17PHKG11.56232429
18PHKG21.56232429
19STK101.48357827
20MOS1.43492543
21VRK11.42006237
22ABL21.32901270
23KDR1.31798827
24TAF11.24041563
25PAK41.23532512
26HIPK21.18199716
27MAP3K121.12685996
28CSNK1G31.10748825
29MAPKAPK31.10479950
30MAP3K111.08720077
31SRPK11.08092736
32CSNK1A1L1.01729929
33ERBB40.96459867
34GRK50.94576524
35MST1R0.91154903
36PTK20.86864781
37NEK10.85922778
38EPHB20.84726530
39STK160.84692720
40AURKA0.84672498
41TBK10.82777121
42PTK2B0.81922113
43MST40.79589611
44BRAF0.77903594
45CDK80.77553276
46BRSK10.77256626
47CSNK1G10.77146852
48CSNK1G20.76867046
49CCNB10.73837597
50SMG10.73433725
51DAPK30.72635287
52ILK0.70776619
53NUAK10.69716819
54MAP3K30.69195850
55PAK10.68495790
56MYLK0.67972727
57TGFBR20.66737326
58PRPF4B0.66569231
59DAPK20.65507289
60GRK70.61768169
61SCYL20.59657742
62CDK190.57349962
63EPHB10.57160440
64BMX0.54341072
65LRRK20.54104980
66CDK70.51356455
67RAF10.48703574
68CDK140.46012811
69PRKCI0.44645608
70PDK20.41693630
71EIF2AK20.39196200
72CDK150.38214204
73CDK11A0.37720555
74CDK180.37374942
75PLK10.34656414
76AURKB0.33565500
77ADRBK10.33011625
78MAPKAPK20.32832890
79CAMKK20.32812991
80CDC70.31691184
81MAPKAPK50.31653270
82GSK3A0.31531421
83IKBKE0.29168249
84PLK30.27591883
85CSNK2A20.26138986
86RPS6KA50.24750480
87EPHA40.21905514
88MAP3K80.21057169
89CAMK2G0.20879365
90TLK10.20084249
91PTK60.18764251
92MET0.17315237
93PRKACB0.17303985
94FER0.15965983
95PRKD10.14272542
96MAP3K10.12794731
97MAP3K50.12059042
98MAP2K30.10919035
99ROCK10.10268964
100ICK0.09924680

Predicted pathways (KEGG)

RankGene SetZ-score
1Proteasome_Homo sapiens_hsa030504.98597214
2DNA replication_Homo sapiens_hsa030303.44414828
3Oxidative phosphorylation_Homo sapiens_hsa001903.18316076
4Folate biosynthesis_Homo sapiens_hsa007902.71982667
5Parkinsons disease_Homo sapiens_hsa050122.68451149
6Base excision repair_Homo sapiens_hsa034102.62897481
7Sulfur relay system_Homo sapiens_hsa041222.60915731
8RNA polymerase_Homo sapiens_hsa030202.53884704
9Fatty acid elongation_Homo sapiens_hsa000622.52943249
10Mismatch repair_Homo sapiens_hsa034302.40981657
11Huntingtons disease_Homo sapiens_hsa050162.39599204
12Pyrimidine metabolism_Homo sapiens_hsa002402.28097468
13Alzheimers disease_Homo sapiens_hsa050102.21524388
14Ribosome_Homo sapiens_hsa030102.06705382
15Pentose phosphate pathway_Homo sapiens_hsa000301.99556199
16Galactose metabolism_Homo sapiens_hsa000521.99170951
17Glutathione metabolism_Homo sapiens_hsa004801.96870046
18Biosynthesis of amino acids_Homo sapiens_hsa012301.92874043
19Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.92008386
20Primary bile acid biosynthesis_Homo sapiens_hsa001201.88159350
21Nucleotide excision repair_Homo sapiens_hsa034201.84834247
222-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.80294511
23Fructose and mannose metabolism_Homo sapiens_hsa000511.76112327
24Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.74609962
25Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.68884756
26* Salivary secretion_Homo sapiens_hsa049701.66403427
27Non-alcoholic fatty liver disease (NAFLD)_Homo sapiens_hsa049321.61876167
28Cytosolic DNA-sensing pathway_Homo sapiens_hsa046231.56788181
29Homologous recombination_Homo sapiens_hsa034401.46598893
30Pathogenic Escherichia coli infection_Homo sapiens_hsa051301.46017226
31Carbon metabolism_Homo sapiens_hsa012001.42690216
32Pyruvate metabolism_Homo sapiens_hsa006201.41881739
33Glycosaminoglycan degradation_Homo sapiens_hsa005311.34881043
34Ribosome biogenesis in eukaryotes_Homo sapiens_hsa030081.34184270
35Glycosylphosphatidylinositol(GPI)-anchor biosynthesis_Homo sapiens_hsa005631.32583633
36N-Glycan biosynthesis_Homo sapiens_hsa005101.31947162
37Ubiquinone and other terpenoid-quinone biosynthesis_Homo sapiens_hsa001301.31472228
38Vibrio cholerae infection_Homo sapiens_hsa051101.29904674
39Biosynthesis of unsaturated fatty acids_Homo sapiens_hsa010401.23067388
40Purine metabolism_Homo sapiens_hsa002301.04781346
41SNARE interactions in vesicular transport_Homo sapiens_hsa041301.04743402
42Bacterial invasion of epithelial cells_Homo sapiens_hsa051001.03212178
43Cardiac muscle contraction_Homo sapiens_hsa042600.97902558
44Amyotrophic lateral sclerosis (ALS)_Homo sapiens_hsa050140.97295727
45Other glycan degradation_Homo sapiens_hsa005110.95972268
46Shigellosis_Homo sapiens_hsa051310.88870542
47Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.85620355
48Drug metabolism - other enzymes_Homo sapiens_hsa009830.79353308
49Lysosome_Homo sapiens_hsa041420.79228795
50Metabolism of xenobiotics by cytochrome P450_Homo sapiens_hsa009800.77671960
51Cyanoamino acid metabolism_Homo sapiens_hsa004600.76840464
52Pantothenate and CoA biosynthesis_Homo sapiens_hsa007700.75203177
53Metabolic pathways_Homo sapiens_hsa011000.74253496
54Apoptosis_Homo sapiens_hsa042100.74056941
55Porphyrin and chlorophyll metabolism_Homo sapiens_hsa008600.67519977
56Cysteine and methionine metabolism_Homo sapiens_hsa002700.64337776
57Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.64296154
58RIG-I-like receptor signaling pathway_Homo sapiens_hsa046220.63222853
59Epstein-Barr virus infection_Homo sapiens_hsa051690.61206835
60Endocytosis_Homo sapiens_hsa041440.58187746
61Bladder cancer_Homo sapiens_hsa052190.57322609
62p53 signaling pathway_Homo sapiens_hsa041150.53349501
63Phenylalanine metabolism_Homo sapiens_hsa003600.53036508
64Steroid biosynthesis_Homo sapiens_hsa001000.52906890
65Tyrosine metabolism_Homo sapiens_hsa003500.51524237
66Salmonella infection_Homo sapiens_hsa051320.50172577
67Synaptic vesicle cycle_Homo sapiens_hsa047210.48652230
68Sulfur metabolism_Homo sapiens_hsa009200.47910271
69Peroxisome_Homo sapiens_hsa041460.46792536
70Spliceosome_Homo sapiens_hsa030400.46724054
71Viral myocarditis_Homo sapiens_hsa054160.46087368
72Cell cycle_Homo sapiens_hsa041100.43571855
73Arachidonic acid metabolism_Homo sapiens_hsa005900.42176806
74Mineral absorption_Homo sapiens_hsa049780.41394613
75Starch and sucrose metabolism_Homo sapiens_hsa005000.40713247
76NF-kappa B signaling pathway_Homo sapiens_hsa040640.39761117
77Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005330.38631843
78Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.38571168
79Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.33331841
80Central carbon metabolism in cancer_Homo sapiens_hsa052300.32123242
81Non-homologous end-joining_Homo sapiens_hsa034500.31882967
82Glycine, serine and threonine metabolism_Homo sapiens_hsa002600.29844504
83Complement and coagulation cascades_Homo sapiens_hsa046100.27141320
84RNA transport_Homo sapiens_hsa030130.26585688
85Chemical carcinogenesis_Homo sapiens_hsa052040.25435007
86Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.23136186
87Glyoxylate and dicarboxylate metabolism_Homo sapiens_hsa006300.20872605
88Arginine and proline metabolism_Homo sapiens_hsa003300.20043142
89HIF-1 signaling pathway_Homo sapiens_hsa040660.19489339
90Pertussis_Homo sapiens_hsa051330.18036596
91Legionellosis_Homo sapiens_hsa051340.17898080
92Protein export_Homo sapiens_hsa030600.17848774
93HTLV-I infection_Homo sapiens_hsa051660.17842054
94Propanoate metabolism_Homo sapiens_hsa006400.15984239
95Terpenoid backbone biosynthesis_Homo sapiens_hsa009000.15908598
96Steroid hormone biosynthesis_Homo sapiens_hsa001400.15518430
97Viral carcinogenesis_Homo sapiens_hsa052030.15335310
98Mucin type O-Glycan biosynthesis_Homo sapiens_hsa005120.15134632
99Collecting duct acid secretion_Homo sapiens_hsa049660.14981889
100Phagosome_Homo sapiens_hsa041450.14872456

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