ITIH6

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 protein encoded by this gene belongs to the interalpha trypsin inhibitor heavy chain (ITIH) family. Interalpha trypsin inhibitor (ITI) is composed of two heavy chains (containing VWA domain) and one light chain. The light chain confers the protease-inhibitor function, while the heavy chains are involved in mediating protein-protein interactions with the components of the extracellular matrix. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1regulation of lipoprotein metabolic process (GO:0050746)9.17291612
2negative regulation of focal adhesion assembly (GO:0051895)8.09096893
3negative regulation of cell junction assembly (GO:1901889)8.09096893
4negative regulation of adherens junction organization (GO:1903392)8.09096893
5regulation of cytokine production involved in inflammatory response (GO:1900015)7.78671933
6negative regulation of platelet-derived growth factor receptor signaling pathway (GO:0010642)7.57727694
7actin-myosin filament sliding (GO:0033275)6.88884715
8muscle filament sliding (GO:0030049)6.88884715
9negative regulation of chemokine production (GO:0032682)5.99632167
10regulation of skeletal muscle contraction (GO:0014819)5.79253294
11axon regeneration (GO:0031103)5.72215091
12negative regulation of homotypic cell-cell adhesion (GO:0034111)5.66558341
13actin-mediated cell contraction (GO:0070252)5.66402259
14positive regulation of astrocyte differentiation (GO:0048711)5.59033840
15skeletal muscle fiber development (GO:0048741)5.51145100
16regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)5.50489116
17sarcoplasmic reticulum calcium ion transport (GO:0070296)5.40650657
18skeletal muscle contraction (GO:0003009)5.15565370
19enteric nervous system development (GO:0048484)5.11080601
20myotube cell development (GO:0014904)5.09106140
21regulation of calcineurin-NFAT signaling cascade (GO:0070884)4.96656951
22negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)4.84263475
23cell aggregation (GO:0098743)4.78820201
24cartilage condensation (GO:0001502)4.78820201
25myofibril assembly (GO:0030239)4.60850195
26regulation of relaxation of muscle (GO:1901077)4.60490321
27diterpenoid biosynthetic process (GO:0016102)4.57227964
28sarcomere organization (GO:0045214)4.46476417
29melanocyte differentiation (GO:0030318)4.45817821
30axon development (GO:0061564)4.40415460
31basement membrane organization (GO:0071711)4.40223643
32pigment cell differentiation (GO:0050931)4.39897675
33regulation of skeletal muscle cell differentiation (GO:2001014)4.39344504
34actin filament-based movement (GO:0030048)4.36701494
35response to stimulus involved in regulation of muscle adaptation (GO:0014874)4.30448419
36regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:00033394.23611737
37positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)4.20293395
38skeletal muscle adaptation (GO:0043501)4.17105316
39regulation of gonadotropin secretion (GO:0032276)4.14003226
40response to inactivity (GO:0014854)4.09544943
41glycogen catabolic process (GO:0005980)4.06822683
42striated muscle contraction (GO:0006941)4.05596944
43neuron projection regeneration (GO:0031102)4.02980050
44negative regulation of sodium ion transport (GO:0010766)3.93691872
45short-term memory (GO:0007614)3.86323327
46regulation of response to osmotic stress (GO:0047484)3.85593365
47regulation of membrane protein ectodomain proteolysis (GO:0051043)3.84556134
48cardiac myofibril assembly (GO:0055003)3.83200653
49regulation of platelet aggregation (GO:0090330)3.82703028
50inositol phosphate-mediated signaling (GO:0048016)3.81988324
51glucan catabolic process (GO:0009251)3.76323584
52face development (GO:0060324)3.74486177
53cardiac muscle hypertrophy (GO:0003300)3.72994656
54negative regulation of platelet activation (GO:0010544)3.68269048
55skeletal muscle tissue development (GO:0007519)3.61056453
56response to methylmercury (GO:0051597)3.60418527
57negative regulation of skeletal muscle tissue development (GO:0048642)3.59491472
58cell-cell junction maintenance (GO:0045217)3.57395104
59striated muscle hypertrophy (GO:0014897)3.55733090
60cellular polysaccharide catabolic process (GO:0044247)3.53007862
61muscle cell migration (GO:0014812)3.52386329
62response to muscle activity (GO:0014850)3.52257916
63chondroitin sulfate catabolic process (GO:0030207)3.48037455
64regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)3.48008151
65muscle fiber development (GO:0048747)3.46414230
66tissue regeneration (GO:0042246)3.45542019
67negative regulation of cell-matrix adhesion (GO:0001953)3.45132800
68striated muscle adaptation (GO:0014888)3.42812717
69muscle contraction (GO:0006936)3.40863276
70negative regulation of smooth muscle cell differentiation (GO:0051151)3.39257243
71regulation of plasminogen activation (GO:0010755)3.38292726
72astrocyte differentiation (GO:0048708)3.35957940
73negative regulation of smooth muscle cell proliferation (GO:0048662)3.34018721
74positive regulation of calcium ion transmembrane transporter activity (GO:1901021)3.33805540
75phosphate ion transmembrane transport (GO:0035435)3.26289424
76actomyosin structure organization (GO:0031032)3.25443130
77righting reflex (GO:0060013)3.24550677
78neuron remodeling (GO:0016322)3.24528049
79melanin biosynthetic process (GO:0042438)3.23238733
80syncytium formation (GO:0006949)3.22535474
81peripheral nervous system development (GO:0007422)3.20807140
82regulation of adherens junction organization (GO:1903391)3.16908521
83polysaccharide catabolic process (GO:0000272)3.16799193
84hypotonic response (GO:0006971)3.12635188
85negative regulation of leukocyte migration (GO:0002686)3.12329748
86mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)3.12321187
87dermatan sulfate metabolic process (GO:0030205)3.12019828
88regulation of focal adhesion assembly (GO:0051893)3.10688249
89regulation of cell-substrate junction assembly (GO:0090109)3.10688249
90muscle system process (GO:0003012)3.08719001
91hyperosmotic salinity response (GO:0042538)3.07709758
92dermatan sulfate biosynthetic process (GO:0030208)3.06260917
93muscle hypertrophy (GO:0014896)3.05477591
94fructose metabolic process (GO:0006000)3.04131767
95positive regulation of myoblast differentiation (GO:0045663)3.02166800
96syncytium formation by plasma membrane fusion (GO:0000768)3.00469631
97terpenoid biosynthetic process (GO:0016114)2.98302516
98neural crest cell migration (GO:0001755)2.96348834
99actin filament depolymerization (GO:0030042)2.94949560
100semaphorin-plexin signaling pathway (GO:0071526)2.94717012

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1ESR1_20079471_ChIP-ChIP_T-47D_Human5.00637151
2TP63_17297297_ChIP-ChIP_HaCaT_Human4.01948180
3RARG_19884340_ChIP-ChIP_MEFs_Mouse3.61435055
4ESR1_21235772_ChIP-Seq_MCF-7_Human3.36034628
5ESR2_21235772_ChIP-Seq_MCF-7_Human3.10193828
6TBX20_22328084_ChIP-Seq_HEART_Mouse2.60713883
7TBX20_22080862_ChIP-Seq_HEART_Mouse2.60713883
8TFAP2C_20629094_ChIP-Seq_MCF-7_Human2.47153520
9DROSHA_22980978_ChIP-Seq_HELA_Human2.40476601
10ZNF263_19887448_ChIP-Seq_K562_Human2.20063043
11PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse2.19568368
12THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.07344417
13RUNX2_24764292_ChIP-Seq_MC3T3_Mouse2.04166123
14AR_21572438_ChIP-Seq_LNCaP_Human2.03828953
15RACK7_27058665_Chip-Seq_MCF-7_Human2.00712694
16TRP63_18441228_ChIP-ChIP_KERATINOCYTES_Mouse1.93790148
17BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.79956329
18LXR_22292898_ChIP-Seq_THP-1_Human1.77637816
19MITF_21258399_ChIP-Seq_MELANOMA_Human1.66930000
20TP53_23651856_ChIP-Seq_MEFs_Mouse1.62935835
21NFIB_24661679_ChIP-Seq_LUNG_Mouse1.62390504
22P63_26484246_Chip-Seq_KERATINOCYTES_Human1.58505054
23P300_27058665_Chip-Seq_ZR-75-30cells_Human1.57455591
24ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.57351947
25SOX9_24532713_ChIP-Seq_HFSC_Mouse1.56588624
26RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.56255527
27ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.50823641
28CDX2_19796622_ChIP-Seq_MESCs_Mouse1.49309598
29WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse1.49269814
30DNAJC2_21179169_ChIP-ChIP_NT2_Human1.47748621
31NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.44388253
32SOX9_26525672_Chip-Seq_Limbbuds_Mouse1.42981524
33CTNNB1_20615089_ChIP-ChIP_FETAL_BRAIN_Human1.42112831
34KDM2B_26808549_Chip-Seq_SUP-B15_Human1.40596208
35EP300_20729851_ChIP-Seq_FORBRAIN_MIDBRAIN_LIMB_HEART_Mouse1.40556684
36TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.38695969
37RUNX1_27514584_Chip-Seq_MCF-7_Human1.36015685
38PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.35294283
39CRX_20693478_ChIP-Seq_ADULT_RETINA_Mouse1.34757730
40NKX2-5_21415370_ChIP-Seq_HL-1_Mouse1.33632344
41BP1_19119308_ChIP-ChIP_Hs578T_Human1.32469494
42JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.31344694
43ZNF217_24962896_ChIP-Seq_MCF-7_Human1.28333361
44CHD7_19251738_ChIP-ChIP_MESCs_Mouse1.25224216
45TP63_22573176_ChIP-Seq_HFKS_Human1.22487327
46EP300_21415370_ChIP-Seq_HL-1_Mouse1.22035555
47TBP_23326641_ChIP-Seq_C3H10T1-2_Mouse1.21826739
48PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse1.16739323
49PPAR_26484153_Chip-Seq_NCI-H1993_Human1.15823361
50ELK3_25401928_ChIP-Seq_HUVEC_Human1.15399871
51STAT1_20625510_ChIP-Seq_HELA_Human1.13309070
52CTNNB1_20460455_ChIP-Seq_HCT116_Human1.13186564
53SMAD3_22036565_ChIP-Seq_ESCs_Mouse1.12813129
54TAF7L_23326641_ChIP-Seq_C3H10T1-2_Mouse1.12327351
55ZFP281_18757296_ChIP-ChIP_E14_Mouse1.08232619
56TCF4_18268006_ChIP-ChIP_LS174T_Human1.08181489
57ZFP281_18358816_ChIP-ChIP_MESCs_Mouse1.06625278
58KDM2B_26808549_Chip-Seq_K562_Human1.02980040
59PCGF2_27294783_Chip-Seq_NPCs_Mouse1.01958708
60CTCF_27219007_Chip-Seq_Bcells_Human0.99746122
61TCF21_23034159_ChIP-ChIP_E13_GONADS_Rat0.99508930
62PCGF2_27294783_Chip-Seq_ESCs_Mouse0.99503959
63YY1_22570637_ChIP-Seq_MALME-3M_Human0.99435138
64MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human0.98881382
65RARB_24833708_ChIP-Seq_LIVER_Mouse0.98498039
66WT1_25993318_ChIP-Seq_PODOCYTE_Human0.98353517
67CTCF_27219007_Chip-Seq_ERYTHROID_Human0.97806482
68CLOCK_20551151_ChIP-Seq_293T_Human0.97790312
69STAT5_23275557_ChIP-Seq_MAMMARY-EPITHELIUM_Mouse0.97533438
70SUZ12_27294783_Chip-Seq_NPCs_Mouse0.96406811
71ZFX_18555785_Chip-Seq_ESCs_Mouse0.95712920
72SMAD3_21741376_ChIP-Seq_HESCs_Human0.94355553
73EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.94273927
74PPARG_19300518_ChIP-PET_3T3-L1_Mouse0.93911183
75RARA_24833708_ChIP-Seq_LIVER_Mouse0.92885722
76EZH2_27294783_Chip-Seq_NPCs_Mouse0.92615324
77ZNF652_21678463_ChIP-ChIP_ZR75-1_Human0.92335354
78SMC3_22415368_ChIP-Seq_MEFs_Mouse0.91908299
79UBF1/2_26484160_Chip-Seq_HMEC-DERIVED_Human0.91896432
80CJUN_26792858_Chip-Seq_BT549_Human0.90079339
81UBF1/2_26484160_Chip-Seq_HMECs_Human0.89483484
82MYC_27129775_Chip-Seq_CORNEA_Mouse0.89274152
83GATA2_21666600_ChIP-Seq_HMVEC_Human0.89270003
84SOX11_22085726_ChIP-Seq_ESNs_Mouse0.89240791
85CREB1_26743006_Chip-Seq_LNCaP-abl_Human0.89155969
86TP53_22127205_ChIP-Seq_IMR90_Human0.88824097
87EZH2_27294783_Chip-Seq_ESCs_Mouse0.88592782
88KLF6_26769127_Chip-Seq_PDAC-Cell_line_Human0.86458751
89AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.86174399
90STAT3_19079543_ChIP-ChIP_MESCs_Mouse0.85563830
91SMC4_20622854_ChIP-Seq_HELA_Human0.84702448
92GATA1_19941827_ChIP-Seq_MEL_Mouse0.84157753
93CEBPB_21427703_ChIP-Seq_3T3-L1_Mouse0.83910174
94TCF7_22412390_ChIP-Seq_EML_Mouse0.83132785
95GATA3_24758297_ChIP-Seq_MCF-7_Human0.81017817
96CRX_20693478_ChIP-Seq_RETINA_Mouse0.80851502
97KLF4_18555785_Chip-Seq_ESCs_Mouse0.80736959
98SOX6_21985497_ChIP-Seq_MYOTUBES_Mouse0.80172930
99FOXA1_21915096_ChIP-Seq_LNCaP-1F5_Human0.80037681
100ATF3_23680149_ChIP-Seq_GBM1-GSC_Human0.79103158

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0005171_absent_coat_pigmentation6.43807887
2MP0004036_abnormal_muscle_relaxation4.97432084
3MP0004084_abnormal_cardiac_muscle4.81244722
4MP0000749_muscle_degeneration3.90656095
5MP0004381_abnormal_hair_follicle3.83718832
6MP0000751_myopathy3.73683686
7MP0002822_catalepsy3.71138910
8MP0005075_abnormal_melanosome_morpholog3.61361525
9MP0003646_muscle_fatigue3.53868488
10MP0004145_abnormal_muscle_electrophysio3.34535034
11MP0008438_abnormal_cutaneous_collagen3.29357740
12MP0004858_abnormal_nervous_system3.14068317
13MP0004484_altered_response_of2.81139879
14MP0005408_hypopigmentation2.76998499
15MP0005330_cardiomyopathy2.74290169
16MP0004510_myositis2.38147833
17MP0000747_muscle_weakness2.35981162
18MP0004272_abnormal_basement_membrane2.21881746
19MP0000759_abnormal_skeletal_muscle2.18392354
20MP0005620_abnormal_muscle_contractility2.14257398
21MP0005451_abnormal_body_composition2.13945378
22MP0002106_abnormal_muscle_physiology2.07362659
23MP0004087_abnormal_muscle_fiber2.00402056
24MP0002269_muscular_atrophy1.88396432
25MP0003136_yellow_coat_color1.87365148
26MP0005369_muscle_phenotype1.86938781
27MP0002108_abnormal_muscle_morphology1.86738033
28MP0005248_abnormal_Harderian_gland1.83121164
29MP0003828_pulmonary_edema1.80138804
30MP0008775_abnormal_heart_ventricle1.79253873
31MP0000372_irregular_coat_pigmentation1.75043238
32MP0004233_abnormal_muscle_weight1.70740097
33MP0002938_white_spotting1.69055028
34MP0006138_congestive_heart_failure1.65622943
35MP0000750_abnormal_muscle_regeneration1.64978557
36MP0002972_abnormal_cardiac_muscle1.64214110
37MP0003045_fibrosis1.54013292
38MP0000733_abnormal_muscle_development1.44170798
39MP0005503_abnormal_tendon_morphology1.40316140
40MP0010030_abnormal_orbit_morphology1.31425898
41MP0004043_abnormal_pH_regulation1.29242214
42MP0009384_cardiac_valve_regurgitation1.27108808
43MP0004130_abnormal_muscle_cell1.22825151
44MP0002332_abnormal_exercise_endurance1.20949649
45MP0000015_abnormal_ear_pigmentation1.09170745
46MP0002751_abnormal_autonomic_nervous1.02725286
47MP0005165_increased_susceptibility_to0.96918374
48MP0005058_abnormal_lysosome_morphology0.96069689
49MP0000534_abnormal_ureter_morphology0.87543024
50MP0000013_abnormal_adipose_tissue0.79985275
51MP0010630_abnormal_cardiac_muscle0.79931055
52MP0001324_abnormal_eye_pigmentation0.78748639
53MP0002127_abnormal_cardiovascular_syste0.78711488
54MP0005385_cardiovascular_system_phenoty0.78571521
55MP0001544_abnormal_cardiovascular_syste0.78571521
56MP0005670_abnormal_white_adipose0.77225632
57MP0000920_abnormal_myelination0.75951513
58MP0005174_abnormal_tail_pigmentation0.75026707
59MP0005257_abnormal_intraocular_pressure0.73874607
60MP0002075_abnormal_coat/hair_pigmentati0.70797920
61MP0003091_abnormal_cell_migration0.69894122
62MP0002909_abnormal_adrenal_gland0.69251552
63MP0009780_abnormal_chondrocyte_physiolo0.68971827
64MP0001661_extended_life_span0.68017579
65MP0002060_abnormal_skin_morphology0.66346995
66MP0003705_abnormal_hypodermis_morpholog0.65455313
67MP0003634_abnormal_glial_cell0.62916663
68MP0001849_ear_inflammation0.60185449
69MP0002168_other_aberrant_phenotype0.59218264
70MP0004215_abnormal_myocardial_fiber0.57909908
71MP0002896_abnormal_bone_mineralization0.57843118
72MP0008569_lethality_at_weaning0.57152158
73MP0005508_abnormal_skeleton_morphology0.56869544
74MP0001299_abnormal_eye_distance/0.55492733
75MP0002254_reproductive_system_inflammat0.54630084
76MP0000627_abnormal_mammary_gland0.54393146
77MP0001881_abnormal_mammary_gland0.51586795
78MP0002249_abnormal_larynx_morphology0.50470638
79MP0000003_abnormal_adipose_tissue0.49017137
80MP0001186_pigmentation_phenotype0.48869348
81MP0002114_abnormal_axial_skeleton0.46594007
82MP0008770_decreased_survivor_rate0.46252369
83MP0002095_abnormal_skin_pigmentation0.45394918
84MP0005166_decreased_susceptibility_to0.44749827
85MP0004085_abnormal_heartbeat0.44630633
86MP0003137_abnormal_impulse_conducting0.44516214
87MP0005197_abnormal_uvea_morphology0.44500363
88MP0003115_abnormal_respiratory_system0.42673867
89MP0000266_abnormal_heart_morphology0.41120192
90MP0000371_diluted_coat_color0.40991856
91MP0002282_abnormal_trachea_morphology0.40967984
92MP0002877_abnormal_melanocyte_morpholog0.40622051
93MP0001348_abnormal_lacrimal_gland0.39770529
94MP0003566_abnormal_cell_adhesion0.39748236
95MP0005023_abnormal_wound_healing0.38412464
96MP0000467_abnormal_esophagus_morphology0.37182585
97MP0000163_abnormal_cartilage_morphology0.37099399
98MP0002116_abnormal_craniofacial_bone0.36520190
99MP0005360_urolithiasis0.36299481
100MP0001614_abnormal_blood_vessel0.35482216

Predicted human phenotypes

RankGene SetZ-score
1Muscle fiber inclusion bodies (HP:0100299)7.85201595
2Nemaline bodies (HP:0003798)7.79091914
3Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)7.66113677
4Type 1 muscle fiber predominance (HP:0003803)6.41103801
5Exercise-induced myalgia (HP:0003738)5.44137368
6Distal lower limb muscle weakness (HP:0009053)5.38108882
7Exercise-induced muscle cramps (HP:0003710)5.26554008
8Muscle fiber splitting (HP:0003555)5.12114179
9Stridor (HP:0010307)4.90883898
10Peripheral hypomyelination (HP:0007182)4.86620571
11White forelock (HP:0002211)4.53627393
12Abnormality of the calf musculature (HP:0001430)4.28739258
13Upper limb muscle weakness (HP:0003484)4.22718982
14Hand muscle atrophy (HP:0009130)4.06634853
15Patchy hypopigmentation of hair (HP:0011365)4.01645498
16EMG: myopathic abnormalities (HP:0003458)3.98116218
17Muscle hypertrophy of the lower extremities (HP:0008968)3.97169406
18Increased connective tissue (HP:0009025)3.79440791
19Distal upper limb amyotrophy (HP:0007149)3.70548095
20Upper limb amyotrophy (HP:0009129)3.70548095
21Calf muscle hypertrophy (HP:0008981)3.70409307
22Myopathic facies (HP:0002058)3.67428367
23Diaphragmatic weakness (HP:0009113)3.60699937
24Centrally nucleated skeletal muscle fibers (HP:0003687)3.57284717
25Distal arthrogryposis (HP:0005684)3.52568477
26Fetal akinesia sequence (HP:0001989)3.42040669
27Neck muscle weakness (HP:0000467)3.36333697
28J-shaped sella turcica (HP:0002680)3.30724902
29Abnormal pupillary function (HP:0007686)3.29702135
30Abnormality of skeletal muscle fiber size (HP:0012084)3.27331740
31Rhabdomyolysis (HP:0003201)3.21067464
32Blue irides (HP:0000635)3.19988290
33Spinal rigidity (HP:0003306)3.14925182
34Limb-girdle muscle atrophy (HP:0003797)3.13606155
35Increased variability in muscle fiber diameter (HP:0003557)3.12555011
36Distal lower limb amyotrophy (HP:0008944)3.12283878
37Mildly elevated creatine phosphokinase (HP:0008180)3.05173765
38Hyporeflexia of lower limbs (HP:0002600)3.03557756
39Round ear (HP:0100830)2.98798750
40Asymmetric septal hypertrophy (HP:0001670)2.95145043
41Myoglobinuria (HP:0002913)2.94267690
42Rimmed vacuoles (HP:0003805)2.90572116
43Foot dorsiflexor weakness (HP:0009027)2.90022378
44Abnormal auditory evoked potentials (HP:0006958)2.83689601
45Ulnar claw (HP:0001178)2.79521588
46Cerebral aneurysm (HP:0004944)2.78767652
47Abnormality of the foot musculature (HP:0001436)2.75568372
48Abnormality of the distal phalanges of the toes (HP:0010182)2.72001236
49Hypoplasia of the iris (HP:0007676)2.70762968
50Insidious onset (HP:0003587)2.64529222
51Termporal pattern (HP:0011008)2.64529222
52Aplasia of the musculature (HP:0100854)2.60413421
53Bulbar palsy (HP:0001283)2.58283469
54Scapular winging (HP:0003691)2.52928916
55Ulnar bowing (HP:0003031)2.51060698
56Nonprogressive disorder (HP:0003680)2.46298600
57Ulnar deviation of the wrist (HP:0003049)2.45924690
58Hypoventilation (HP:0002791)2.43663083
59Heterochromia iridis (HP:0001100)2.38872767
60Proximal amyotrophy (HP:0007126)2.33615728
61Epiphyseal dysplasia (HP:0002656)2.33209515
62Aplasia/Hypoplasia of the capital femoral epiphysis (HP:0005003)2.30464415
63Absent epiphyses (HP:0010577)2.30464415
64Hypoplasia of the capital femoral epiphysis (HP:0003090)2.29969484
65Steppage gait (HP:0003376)2.29830556
66Hip contracture (HP:0003273)2.28494988
67Generalized muscle weakness (HP:0003324)2.28362147
68Difficulty running (HP:0009046)2.26887392
69Slender build (HP:0001533)2.24200918
70Elbow flexion contracture (HP:0002987)2.22647418
71Lower limb amyotrophy (HP:0007210)2.19823148
72Achilles tendon contracture (HP:0001771)2.18167749
73Bundle branch block (HP:0011710)2.16838274
74Frequent falls (HP:0002359)2.13663670
75Obstructive sleep apnea (HP:0002870)2.13488223
76Muscle stiffness (HP:0003552)2.12878423
77Gowers sign (HP:0003391)2.12173771
78Long toe (HP:0010511)2.11046133
79Dilated cardiomyopathy (HP:0001644)2.04208417
80Hyperkalemia (HP:0002153)2.02889355
81Absent phalangeal crease (HP:0006109)2.01914140
82Abnormality of the umbilical cord (HP:0010881)2.01702158
83Waddling gait (HP:0002515)1.98341166
84Muscular dystrophy (HP:0003560)1.96943095
85Action tremor (HP:0002345)1.95330609
86Segmental peripheral demyelination/remyelination (HP:0003481)1.93706949
87Down-sloping shoulders (HP:0200021)1.93213023
88Onion bulb formation (HP:0003383)1.91693093
89Small epiphyses (HP:0010585)1.91403673
90Limited hip movement (HP:0008800)1.90781331
91Abnormality of the Achilles tendon (HP:0005109)1.90011227
92Flat acetabular roof (HP:0003180)1.85427596
93Generalized amyotrophy (HP:0003700)1.84723548
94Underdeveloped nasal alae (HP:0000430)1.83174187
95Decreased number of peripheral myelinated nerve fibers (HP:0003380)1.82054337
96Deformed sella turcica (HP:0002681)1.80229254
97Alacrima (HP:0000522)1.80209654
98Hypopigmentation of the fundus (HP:0007894)1.79522984
99Areflexia of lower limbs (HP:0002522)1.78760140
100Hypoplastic ischia (HP:0003175)1.77699626

Predicted kinase interactions (KEA)

RankGene SetZ-score
1OBSCN8.57911348
2PHKG25.14838233
3PHKG15.14838233
4MAP3K34.76338800
5LMTK24.06936599
6TTN3.20055683
7ERBB42.88507566
8MUSK2.62259635
9NME22.41994413
10DDR22.19756579
11EPHB11.85841661
12PAK41.62515598
13TRIB31.56280979
14RIPK11.46655819
15MOS1.43643080
16ICK1.41890825
17LIMK11.41352950
18MAP3K71.28335244
19PIK3CG1.25744983
20MAPKAPK31.14394414
21SIK31.12400159
22SIK11.09519139
23PRKD31.02496403
24MAPK121.01406081
25PIK3CA0.97805413
26PTK2B0.93115204
27MAP2K30.89572397
28PTK20.84872322
29GSK3A0.83388976
30AKT30.82544187
31MET0.79870792
32PDPK10.77276540
33PRKAA20.75522856
34MAP2K60.74169450
35PDGFRA0.72095966
36CDK120.71396903
37RET0.70958876
38TYRO30.70399688
39PAK60.70270070
40FER0.69300766
41ERN10.66477250
42PRKD20.65086939
43DYRK1A0.64254306
44MAP3K130.60907503
45FGFR40.58608360
46ROCK10.55826480
47TESK10.54244206
48PRKAA10.52767049
49PRKG20.50065070
50MAPK40.50014038
51MARK10.49479708
52EEF2K0.48149871
53CCNB10.46072373
54NME10.44549701
55AKT20.44409362
56PKN20.43624232
57PDK10.43580037
58PDGFRB0.41160855
59ERBB20.40718800
60FLT30.40503198
61ZAP700.40112285
62FRK0.39849906
63MARK20.39728847
64DMPK0.39270624
65PRKD10.39095094
66MAP2K10.38582435
67NTRK10.37448580
68BLK0.36793303
69NLK0.36224405
70DAPK20.36016201
71MARK30.35818745
72PINK10.35397108
73TRPM70.35187394
74MAPK110.34952741
75PTK60.33860201
76TRIM280.33400232
77CDK70.33359792
78PKN10.32183056
79CAMK2D0.30973275
80HCK0.30221302
81FGFR30.30085104
82EPHA30.29643367
83CDC42BPA0.28885373
84TIE10.27874576
85CAMK40.27622871
86MTOR0.27258167
87CAMK2G0.27149324
88HIPK20.26934796
89MAP3K60.26861981
90CHUK0.26412087
91ERBB30.25690011
92PAK10.22748126
93MAPK30.21746010
94MAPKAPK20.21425162
95PRKACA0.17459924
96MAPK70.16947277
97SGK10.15510076
98PRKG10.15141751
99FGFR20.14253235
100TNK20.14179142

Predicted pathways (KEGG)

RankGene SetZ-score
1Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054104.56229866
2Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054124.24534757
3Dilated cardiomyopathy_Homo sapiens_hsa054144.21938962
4ECM-receptor interaction_Homo sapiens_hsa045123.48942767
5Phenylalanine metabolism_Homo sapiens_hsa003602.66052971
6Glycosaminoglycan degradation_Homo sapiens_hsa005312.35259479
7Glycosaminoglycan biosynthesis - keratan sulfate_Homo sapiens_hsa005332.33718465
8Fructose and mannose metabolism_Homo sapiens_hsa000512.12210504
9Circadian rhythm_Homo sapiens_hsa047102.08009677
10Focal adhesion_Homo sapiens_hsa045102.06270378
11Cyanoamino acid metabolism_Homo sapiens_hsa004602.03436123
12Tyrosine metabolism_Homo sapiens_hsa003501.97915598
13Other types of O-glycan biosynthesis_Homo sapiens_hsa005141.92865018
14Sulfur relay system_Homo sapiens_hsa041221.90820082
15Glycolysis / Gluconeogenesis_Homo sapiens_hsa000101.87778121
16Thyroid cancer_Homo sapiens_hsa052161.86790763
17Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005321.81237039
18Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.75970297
19Glucagon signaling pathway_Homo sapiens_hsa049221.75941027
20Insulin resistance_Homo sapiens_hsa049311.72278839
21Lysine degradation_Homo sapiens_hsa003101.71996676
22Cardiac muscle contraction_Homo sapiens_hsa042601.71839654
23Insulin signaling pathway_Homo sapiens_hsa049101.64538760
242-Oxocarboxylic acid metabolism_Homo sapiens_hsa012101.61276827
25Protein digestion and absorption_Homo sapiens_hsa049741.53660225
26Thyroid hormone signaling pathway_Homo sapiens_hsa049191.51811371
27Histidine metabolism_Homo sapiens_hsa003401.47682221
28beta-Alanine metabolism_Homo sapiens_hsa004101.42955343
29Pentose phosphate pathway_Homo sapiens_hsa000301.30434617
30Calcium signaling pathway_Homo sapiens_hsa040201.24735251
31Oxytocin signaling pathway_Homo sapiens_hsa049211.21131046
32Glycosaminoglycan biosynthesis - heparan sulfate / heparin_Homo sapiens_hsa005341.20896981
33Starch and sucrose metabolism_Homo sapiens_hsa005001.18204204
34Other glycan degradation_Homo sapiens_hsa005111.18103165
35Adipocytokine signaling pathway_Homo sapiens_hsa049201.14608479
36Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.12870179
37cGMP-PKG signaling pathway_Homo sapiens_hsa040221.12438086
38Propanoate metabolism_Homo sapiens_hsa006401.06816798
39Small cell lung cancer_Homo sapiens_hsa052221.04505615
40Amino sugar and nucleotide sugar metabolism_Homo sapiens_hsa005201.04232989
41Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004001.04036784
42Citrate cycle (TCA cycle)_Homo sapiens_hsa000201.01309587
43AMPK signaling pathway_Homo sapiens_hsa041520.92971132
44Adherens junction_Homo sapiens_hsa045200.91783440
45ABC transporters_Homo sapiens_hsa020100.89933182
46Vascular smooth muscle contraction_Homo sapiens_hsa042700.86080435
47Carbon metabolism_Homo sapiens_hsa012000.83192851
48Regulation of actin cytoskeleton_Homo sapiens_hsa048100.77992111
49Endometrial cancer_Homo sapiens_hsa052130.74332330
50Proteoglycans in cancer_Homo sapiens_hsa052050.73910727
51Insulin secretion_Homo sapiens_hsa049110.71234500
52Galactose metabolism_Homo sapiens_hsa000520.68228972
53Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047500.68052420
54Nicotinate and nicotinamide metabolism_Homo sapiens_hsa007600.67999875
55Tight junction_Homo sapiens_hsa045300.66375520
56Lysosome_Homo sapiens_hsa041420.65449324
57PI3K-Akt signaling pathway_Homo sapiens_hsa041510.64012023
58VEGF signaling pathway_Homo sapiens_hsa043700.63795081
59Non-small cell lung cancer_Homo sapiens_hsa052230.62053544
60Arginine and proline metabolism_Homo sapiens_hsa003300.61368974
61Salivary secretion_Homo sapiens_hsa049700.57472786
62Melanogenesis_Homo sapiens_hsa049160.56575682
63Longevity regulating pathway - mammal_Homo sapiens_hsa042110.55774396
64Aldosterone synthesis and secretion_Homo sapiens_hsa049250.54809199
65MicroRNAs in cancer_Homo sapiens_hsa052060.51149211
66Taurine and hypotaurine metabolism_Homo sapiens_hsa004300.50238503
67Gastric acid secretion_Homo sapiens_hsa049710.49501085
68Axon guidance_Homo sapiens_hsa043600.49211915
69Viral myocarditis_Homo sapiens_hsa054160.48056081
70Glioma_Homo sapiens_hsa052140.47414108
71Prostate cancer_Homo sapiens_hsa052150.47144677
72PPAR signaling pathway_Homo sapiens_hsa033200.45015599
73GnRH signaling pathway_Homo sapiens_hsa049120.44004010
74Fatty acid biosynthesis_Homo sapiens_hsa000610.43533906
75Notch signaling pathway_Homo sapiens_hsa043300.42551728
76Fatty acid metabolism_Homo sapiens_hsa012120.42172969
77mTOR signaling pathway_Homo sapiens_hsa041500.41938190
78Regulation of autophagy_Homo sapiens_hsa041400.40503333
79Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.40099073
80Inositol phosphate metabolism_Homo sapiens_hsa005620.38732314
81N-Glycan biosynthesis_Homo sapiens_hsa005100.36707570
82Sphingolipid metabolism_Homo sapiens_hsa006000.36238480
83ErbB signaling pathway_Homo sapiens_hsa040120.35872328
84Glycosphingolipid biosynthesis - lacto and neolacto series_Homo sapiens_hsa006010.35741001
85Biosynthesis of amino acids_Homo sapiens_hsa012300.34802043
86Amoebiasis_Homo sapiens_hsa051460.34705063
87Pyruvate metabolism_Homo sapiens_hsa006200.33853053
88HIF-1 signaling pathway_Homo sapiens_hsa040660.33100495
89Estrogen signaling pathway_Homo sapiens_hsa049150.32674173
90Platelet activation_Homo sapiens_hsa046110.26722458
91Phosphatidylinositol signaling system_Homo sapiens_hsa040700.25818849
92Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.25065952
93Arginine biosynthesis_Homo sapiens_hsa002200.23638013
94Fatty acid degradation_Homo sapiens_hsa000710.23503701
95Jak-STAT signaling pathway_Homo sapiens_hsa046300.21735273
96Protein processing in endoplasmic reticulum_Homo sapiens_hsa041410.20813028
97Drug metabolism - cytochrome P450_Homo sapiens_hsa009820.20790683
98Bacterial invasion of epithelial cells_Homo sapiens_hsa051000.19956295
99Renin secretion_Homo sapiens_hsa049240.18532518
100Regulation of lipolysis in adipocytes_Homo sapiens_hsa049230.18031181

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