ANKH

Predicted funtional terms: GO | ChEA | Mouse Phenotype | Human Phenotype | KEA | KEGG
Most similar genes based on co-expression: Pearson correlation
Expression levels across tissues and cell lines: Tissue Expression | Cell Line Expression





Description: This gene encodes a multipass transmembrane protein that is expressed in joints and other tissues and controls pyrophosphate levels in cultured cells. Progressive ankylosis-mediated control of pyrophosphate levels has been suggested as a possible mechanism regulating tissue calcification and susceptibility to arthritis in higher animals. Mutations in this gene have been associated with autosomal dominant craniometaphyseal dysplasia. NCBI Entrez Gene | GeneCards | Harmonizome

Functional Annotation Prediction

Predicted biological processes (GO)

RankGene SetZ-score
1synaptic vesicle docking involved in exocytosis (GO:0016081)4.67258833
2response to parathyroid hormone (GO:0071107)3.42656222
3synaptic vesicle maturation (GO:0016188)3.33714898
4cellular potassium ion homeostasis (GO:0030007)3.30247597
5regulation of ARF protein signal transduction (GO:0032012)3.20242342
6glutamate secretion (GO:0014047)3.11869770
7keratan sulfate catabolic process (GO:0042340)3.03389989
8synaptic vesicle exocytosis (GO:0016079)2.97958291
9macroautophagy (GO:0016236)2.97413533
10cell communication by electrical coupling involved in cardiac conduction (GO:0086064)2.95016704
11membrane depolarization during cardiac muscle cell action potential (GO:0086012)2.93245140
12positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)2.84307803
13sodium ion export (GO:0071436)2.84196315
14iron ion import (GO:0097286)2.73731789
15regulation of short-term neuronal synaptic plasticity (GO:0048172)2.65125697
16regulation of calcineurin-NFAT signaling cascade (GO:0070884)2.59949608
17import into cell (GO:0098657)2.58253410
18proline transport (GO:0015824)2.55664292
19detection of calcium ion (GO:0005513)2.52166945
20potassium ion import (GO:0010107)2.49354573
21cytoskeletal anchoring at plasma membrane (GO:0007016)2.48084115
22regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)2.46401114
23sarcoplasmic reticulum calcium ion transport (GO:0070296)2.44178831
24positive regulation of calcium ion-dependent exocytosis (GO:0045956)2.43893942
25regulation of cell communication by electrical coupling (GO:0010649)2.41942940
26negative regulation of erythrocyte differentiation (GO:0045647)2.40516900
27peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)2.38831795
28positive regulation of synapse maturation (GO:0090129)2.33428202
29positive regulation of Rap GTPase activity (GO:0032854)2.33213858
30regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO2.33031280
31regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)2.32749972
32positive regulation of calcium ion transmembrane transporter activity (GO:1901021)2.31149606
33striated muscle hypertrophy (GO:0014897)2.30152902
34myofibril assembly (GO:0030239)2.29633932
35regulation of synaptic vesicle exocytosis (GO:2000300)2.28884505
36regulation of extracellular matrix disassembly (GO:0010715)2.27843626
37cerebellar granule cell differentiation (GO:0021707)2.27333412
38regulation of energy homeostasis (GO:2000505)2.25121391
39positive regulation of neurotransmitter secretion (GO:0001956)2.24958345
40cardiac muscle contraction (GO:0060048)2.22531063
41cellular response to thyroid hormone stimulus (GO:0097067)2.22528298
42potassium ion homeostasis (GO:0055075)2.21393558
43muscle hypertrophy (GO:0014896)2.21308129
44alanine transport (GO:0032328)2.20558826
45cellular response to epinephrine stimulus (GO:0071872)2.19447224
46cardiac muscle hypertrophy (GO:0003300)2.19261573
47cellular sodium ion homeostasis (GO:0006883)2.16343229
48negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)2.15770567
49regulation of synaptic vesicle transport (GO:1902803)2.15482581
50activation of protein kinase A activity (GO:0034199)2.14594218
51cellular response to ethanol (GO:0071361)2.14509865
52neurotransmitter secretion (GO:0007269)2.12874433
53positive regulation of synaptic transmission, dopaminergic (GO:0032226)2.12025102
54regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)2.11619465
55mannose metabolic process (GO:0006013)2.11527171
56myelin maintenance (GO:0043217)2.09921596
57relaxation of cardiac muscle (GO:0055119)2.09604310
58cardiac muscle hypertrophy in response to stress (GO:0014898)2.09059658
59muscle hypertrophy in response to stress (GO:0003299)2.09059658
60cardiac muscle adaptation (GO:0014887)2.09059658
61cell communication by electrical coupling (GO:0010644)2.09053448
62positive regulation of neurotransmitter transport (GO:0051590)2.07913047
63regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)2.07717322
64L-amino acid import (GO:0043092)2.06746471
65actin filament capping (GO:0051693)2.04865009
66creatine metabolic process (GO:0006600)2.04187051
67regulation of beta-amyloid formation (GO:1902003)2.02653669
68cardiac conduction (GO:0061337)2.01974459
69positive regulation of excitatory postsynaptic membrane potential (GO:2000463)2.01202311
70regulation of neuronal synaptic plasticity (GO:0048168)2.00737151
71response to epinephrine (GO:0071871)1.98525902
72negative regulation of hormone biosynthetic process (GO:0032353)1.98366695
73regulation of sodium ion transmembrane transporter activity (GO:2000649)1.97082420
74cardiac myofibril assembly (GO:0055003)1.97049281
75response to thyroid hormone (GO:0097066)1.96393365
76regulation of cholesterol homeostasis (GO:2000188)1.94757255
77adhesion of symbiont to host cell (GO:0044650)1.94391182
78virion attachment to host cell (GO:0019062)1.94391182
79regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)1.94166040
80cell communication involved in cardiac conduction (GO:0086065)1.93425992
81positive regulation of protein dephosphorylation (GO:0035307)1.92859484
82regulation of sodium ion transport (GO:0002028)1.92578422
83regulation of early endosome to late endosome transport (GO:2000641)1.92389892
84regulation of calcium ion transmembrane transporter activity (GO:1901019)1.92389278
85regulation of calcium ion transmembrane transport (GO:1903169)1.92389278
86regulation of Rap GTPase activity (GO:0032317)1.92174744
87negative regulation of amyloid precursor protein catabolic process (GO:1902992)1.91278759
88neuromuscular process controlling posture (GO:0050884)1.90557099
89striated muscle contraction (GO:0006941)1.89705948
90actin filament depolymerization (GO:0030042)1.89561141
91trivalent inorganic cation transport (GO:0072512)1.89273637
92ferric iron transport (GO:0015682)1.89273637
93regulation of synapse maturation (GO:0090128)1.89144904
94dicarboxylic acid biosynthetic process (GO:0043650)1.87973769
95regulation of relaxation of muscle (GO:1901077)1.87967430
96regulation of clathrin-mediated endocytosis (GO:2000369)1.87239371
97regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition 1.85732848
98regulation of membrane protein ectodomain proteolysis (GO:0051043)1.84796268
99membrane depolarization during action potential (GO:0086010)1.84727292
100striated muscle adaptation (GO:0014888)1.84663466

Predicted upstream transcription factors (ChEA)

RankGene SetZ-score
1THRA_23701648_ChIP-Seq_CEREBELLUM_Mouse2.24180171
2DROSHA_22980978_ChIP-Seq_HELA_Human1.99258537
3SMAD_19615063_ChIP-ChIP_OVARY_Human1.98692332
4TFAP2C_20629094_ChIP-Seq_MCF-7_Human1.88133613
5CDX2_19796622_ChIP-Seq_MESCs_Mouse1.78280053
6ESR2_21235772_ChIP-Seq_MCF-7_Human1.76421708
7NR1I2_20693526_ChIP-Seq_LIVER_Mouse1.74032176
8EZH2_23942234_ChIP-Seq_MYOBLASTS_AND_MYOTUBES_Mouse1.67231464
9MTF2_20144788_ChIP-Seq_MESCs_Mouse1.62304613
10SUZ12_20075857_ChIP-Seq_MESCs_Mouse1.58724865
11STAT6_20620947_ChIP-Seq_CD4_POS_T_Human1.57326449
12RARG_19884340_ChIP-ChIP_MEFs_Mouse1.52379126
13ESR1_22446102_ChIP-Seq_UTERUS_Mouse1.51971872
14SUZ12_18555785_ChIP-Seq_MESCs_Mouse1.51443998
15SUZ12_18692474_ChIP-Seq_MESCs_Mouse1.47768793
16KDM2B_26808549_Chip-Seq_SUP-B15_Human1.47663675
17MYCN_19997598_ChIP-ChIP_NEUROBLASTOMA_Human1.44195821
18RARB_27405468_Chip-Seq_BRAIN_Mouse1.43611445
19VDR_23401126_ChIP-Seq_LCL-AND-THP1_Human1.43090690
20GATA2_21666600_ChIP-Seq_HMVEC_Human1.41106259
21TRIM28_21343339_ChIP-Seq_HEK293_Human1.40725534
22Nerf2_26677805_Chip-Seq_MACROPHAGESS_Mouse1.39320996
23* ZNF217_24962896_ChIP-Seq_MCF-7_Human1.38013320
24KDM2B_26808549_Chip-Seq_K562_Human1.35747240
25BACH1_22875853_ChIP-PCR_HELA_AND_SCP4_Human1.35639975
26GATA1_22025678_ChIP-Seq_K562_Human1.33270499
27CTNNB1_20460455_ChIP-Seq_HCT116_Human1.32746746
28LXR_22292898_ChIP-Seq_THP-1_Human1.30699867
29EP300_21415370_ChIP-Seq_HL-1_Mouse1.29760414
30GATA1_19941826_ChIP-Seq_K562_Human1.29208212
31SCL_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.28741121
32LXR_22158963_ChIP-Seq_LIVER_Mouse1.27951897
33IRF8_22096565_ChIP-ChIP_GC-B_Human1.25574779
34SUZ12_18692474_ChIP-Seq_MEFs_Mouse1.25365147
35JARID2_20075857_ChIP-Seq_MESCs_Mouse1.24269022
36SUZ12_18974828_ChIP-Seq_MESCs_Mouse1.24130458
37TBX20_22328084_ChIP-Seq_HEART_Mouse1.23395000
38TBX20_22080862_ChIP-Seq_HEART_Mouse1.23395000
39FOXO1_23066095_ChIP-Seq_LIVER_Mouse1.21545873
40* FOXA2_19822575_ChIP-Seq_HepG2_Human1.21365940
41SMRT_22465074_ChIP-Seq_MACROPHAGES_Mouse1.21162016
42ESR1_17901129_ChIP-ChIP_LIVER_Mouse1.20361943
43GATA1_19941827_ChIP-Seq_MEL_Mouse1.19851431
44RXR_22158963_ChIP-Seq_LIVER_Mouse1.19827069
45NUCKS1_24931609_ChIP-Seq_HEPATOCYTES_Mouse1.19381522
46WT1_25993318_ChIP-Seq_PODOCYTE_Human1.17975303
47PRDM16_22522345_ChIP-ChIP_PALATE_MESENCHYMAL_Mouse1.17827152
48RNF2_27304074_Chip-Seq_ESCs_Mouse1.16760501
49JARID2_20064375_ChIP-Seq_MESCs_Mouse1.14050150
50TCF21_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human1.12533747
51FOXP1_22492998_ChIP-Seq_STRATIUM_Mouse1.12323220
52EZH2_18974828_ChIP-Seq_MESCs_Mouse1.09523154
53RNF2_18974828_ChIP-Seq_MESCs_Mouse1.09523154
54DNAJC2_21179169_ChIP-ChIP_NT2_Human1.06817631
55NR3C1_23031785_ChIP-Seq_PC12_Mouse1.06312278
56PPARD_23176727_ChIP-Seq_KERATINOCYTES_Mouse1.04620485
57SUZ12_27294783_Chip-Seq_ESCs_Mouse1.04544311
58ERA_27197147_Chip-Seq_ENDOMETRIOID-ADENOCARCINOMA_Human1.04384848
59GATA2_21571218_ChIP-Seq_MEGAKARYOCYTES_Human1.03756511
60RUNX1_26923725_Chip-Seq_MACROPHAGESS_Mouse1.03299799
61SOX9_24532713_ChIP-Seq_HFSC_Mouse1.02647918
62EZH2_27294783_Chip-Seq_ESCs_Mouse1.02636169
63RUNX_20019798_ChIP-Seq_JUKART_Human1.02571842
64BCL11B_21912641_ChIP-Seq_STHDH_STRIUM_Mouse1.02445622
65PPARA_22158963_ChIP-Seq_LIVER_Mouse1.02381857
66KDM2B_26808549_Chip-Seq_DND41_Human1.01144871
67IKZF1_21737484_ChIP-ChIP_HCT116_Human1.00422167
68* EGR1_20690147_ChIP-Seq_ERYTHROLEUKEMIA_Human0.98632601
69NCOR_22465074_ChIP-Seq_MACROPHAGES_Mouse0.98510128
70IRF8_27001747_Chip-Seq_BMDM_Mouse0.98027804
71TCF7_22412390_ChIP-Seq_EML_Mouse0.97810756
72ESR1_21235772_ChIP-Seq_MCF-7_Human0.97783279
73GATA2_19941826_ChIP-Seq_K562_Human0.96650551
74SMAD3_22036565_ChIP-Seq_ESCs_Mouse0.95497572
75WT1_20215353_ChIP-ChIP_NEPHRON_PROGENITOR_Mouse0.94643828
76REST_21632747_ChIP-Seq_MESCs_Mouse0.93478745
77SPI1_23127762_ChIP-Seq_K562_Human0.93055613
78VDR_24787735_ChIP-Seq_THP-1_Human0.92543890
79* FOXP3_17237761_ChIP-ChIP_TREG_Mouse0.91721985
80PPARG_20176806_ChIP-Seq_MACROPHAGES_Mouse0.90472595
81PBX_27287812_Chip-Seq_EMBYONIC-LIMB_Mouse0.89107531
82SOX9_25088423_ChIP-ChIP_EMBRYONIC_GONADS_Mouse0.88894733
83NR1H3_23393188_ChIP-Seq_ATHEROSCLEROTIC-FOAM_Human0.88663857
84AHR_22903824_ChIP-Seq_MCF-7_Human0.88641689
85FOXO3_23340844_ChIP-Seq_DLD1_Human0.88481495
86NFIB_24661679_ChIP-Seq_LUNG_Mouse0.86915969
87FOXO1_25302145_ChIP-Seq_T-LYMPHOCYTE_Mouse0.85121693
88TET1_21490601_ChIP-Seq_MESCs_Mouse0.84593993
89RACK7_27058665_Chip-Seq_MCF-7_Human0.84325561
90ESR1_20079471_ChIP-ChIP_T-47D_Human0.84261430
91GATA1_21571218_ChIP-Seq_MEGAKARYOCYTES_Human0.84258535
92* SMC4_20622854_ChIP-Seq_HELA_Human0.83906641
93P300_27058665_Chip-Seq_ZR-75-30cells_Human0.82688822
94KDM2B_26808549_Chip-Seq_SIL-ALL_Human0.82446027
95LYL1_20887958_ChIP-Seq_HPC-7_Mouse0.82165557
96RUNX2_24764292_ChIP-Seq_MC3T3_Mouse0.82032593
97SUZ12_16625203_ChIP-ChIP_MESCs_Mouse0.81480080
98JUN_26020271_ChIP-Seq_SMOOTH_MUSCLE_Human0.81212794
99* AR_21915096_ChIP-Seq_LNCaP-1F5_Human0.80993081
100AR_21572438_ChIP-Seq_LNCaP_Human0.80275577

Predicted mouse phenotypes (MGI)

RankGene SetZ-score
1MP0004510_myositis2.82931309
2MP0005058_abnormal_lysosome_morphology2.45469356
3MP0004859_abnormal_synaptic_plasticity2.40836804
4MP0003879_abnormal_hair_cell2.36336340
5MP0003172_abnormal_lysosome_physiology2.31881932
6MP0008438_abnormal_cutaneous_collagen2.25855629
7MP0009840_abnormal_foam_cell2.21830900
8MP0003045_fibrosis2.16020675
9MP0000751_myopathy2.14432822
10MP0009780_abnormal_chondrocyte_physiolo2.13360033
11MP0002837_dystrophic_cardiac_calcinosis2.08444005
12MP0002998_abnormal_bone_remodeling1.93955328
13MP0004270_analgesia1.89825102
14MP0003690_abnormal_glial_cell1.88939936
15MP0004036_abnormal_muscle_relaxation1.81682429
16MP0003329_amyloid_beta_deposits1.81581212
17MP0002064_seizures1.81558718
18MP0002139_abnormal_hepatobiliary_system1.71987728
19MP0000604_amyloidosis1.71521837
20MP0000920_abnormal_myelination1.67131353
21MP0004130_abnormal_muscle_cell1.63617541
22MP0002896_abnormal_bone_mineralization1.61352691
23MP0005503_abnormal_tendon_morphology1.59514287
24MP0003646_muscle_fatigue1.56507091
25MP0003656_abnormal_erythrocyte_physiolo1.55744376
26MP0005365_abnormal_bile_salt1.53055143
27MP0003195_calcinosis1.49964532
28MP0001501_abnormal_sleep_pattern1.49705178
29MP0003633_abnormal_nervous_system1.47633663
30MP0003635_abnormal_synaptic_transmissio1.44777575
31MP0003279_aneurysm1.43747579
32MP0000013_abnormal_adipose_tissue1.41900253
33MP0008569_lethality_at_weaning1.36614606
34MP0003075_altered_response_to1.35417070
35MP0005451_abnormal_body_composition1.33742607
36MP0009046_muscle_twitch1.32384208
37MP0005360_urolithiasis1.31146356
38MP0000749_muscle_degeneration1.27831131
39MP0001756_abnormal_urination1.26192957
40MP0001958_emphysema1.25280209
41MP0003705_abnormal_hypodermis_morpholog1.24905999
42MP0005167_abnormal_blood-brain_barrier1.24450164
43MP0003300_gastrointestinal_ulcer1.24158166
44MP0002063_abnormal_learning/memory/cond1.24000011
45MP0004043_abnormal_pH_regulation1.23238178
46MP0005275_abnormal_skin_tensile1.22892376
47MP0000747_muscle_weakness1.20414957
48MP0000003_abnormal_adipose_tissue1.20276071
49MP0001533_abnormal_skeleton_physiology1.19894576
50MP0005423_abnormal_somatic_nervous1.19324077
51MP0005409_darkened_coat_color1.18008834
52MP0001542_abnormal_bone_strength1.15175892
53MP0009745_abnormal_behavioral_response1.15174918
54MP0002272_abnormal_nervous_system1.14886173
55MP0003631_nervous_system_phenotype1.08542574
56MP0010234_abnormal_vibrissa_follicle1.08537541
57MP0005670_abnormal_white_adipose1.07740396
58MP0003183_abnormal_peptide_metabolism1.07559500
59MP0002971_abnormal_brown_adipose1.05651325
60MP0000759_abnormal_skeletal_muscle1.04540035
61MP0000569_abnormal_digit_pigmentation1.01607166
62MP0004084_abnormal_cardiac_muscle1.00913262
63MP0002909_abnormal_adrenal_gland1.00378183
64MP0006082_CNS_inflammation0.98544050
65MP0005310_abnormal_salivary_gland0.98156517
66MP0004145_abnormal_muscle_electrophysio0.97574192
67MP0003634_abnormal_glial_cell0.97438556
68MP0004087_abnormal_muscle_fiber0.96723624
69MP0001765_abnormal_ion_homeostasis0.96435858
70MP0001502_abnormal_circadian_rhythm0.94650213
71MP0004215_abnormal_myocardial_fiber0.93748324
72MP0003795_abnormal_bone_structure0.93725352
73MP0005535_abnormal_body_temperature0.92996411
74MP0002106_abnormal_muscle_physiology0.91971899
75MP0002332_abnormal_exercise_endurance0.91315069
76MP0002078_abnormal_glucose_homeostasis0.89271142
77MP0002168_other_aberrant_phenotype0.88777289
78MP0002108_abnormal_muscle_morphology0.88638245
79MP0005166_decreased_susceptibility_to0.87007751
80MP0010329_abnormal_lipoprotein_level0.86674786
81MP0010386_abnormal_urinary_bladder0.85937460
82MP0003091_abnormal_cell_migration0.85914780
83MP0005369_muscle_phenotype0.84965499
84MP0002693_abnormal_pancreas_physiology0.84568891
85MP0000343_altered_response_to0.84295293
86MP0004484_altered_response_of0.84232002
87MP0005620_abnormal_muscle_contractility0.83849444
88MP0005375_adipose_tissue_phenotype0.81913127
89MP0002572_abnormal_emotion/affect_behav0.81625317
90MP0008874_decreased_physiological_sensi0.81143399
91MP0003191_abnormal_cellular_cholesterol0.80867701
92MP0002933_joint_inflammation0.79932147
93MP0005165_increased_susceptibility_to0.79593948
94MP0002118_abnormal_lipid_homeostasis0.78395147
95MP0002972_abnormal_cardiac_muscle0.76804772
96MP0002269_muscular_atrophy0.75740602
97MP0003453_abnormal_keratinocyte_physiol0.74092666
98MP0002229_neurodegeneration0.73905710
99MP0002734_abnormal_mechanical_nocicepti0.73382220
100MP0003632_abnormal_nervous_system0.72536010

Predicted human phenotypes

RankGene SetZ-score
1Papilledema (HP:0001085)5.52973089
2Elevated circulating parathyroid hormone (PTH) level (HP:0003165)4.88156924
3Abnormality of liposaccharide metabolism (HP:0010968)3.37878993
4Abnormality of glycosphingolipid metabolism (HP:0004343)3.37878993
5Abnormality of glycolipid metabolism (HP:0010969)3.37878993
6Obstructive sleep apnea (HP:0002870)3.12647768
7Dysostosis multiplex (HP:0000943)2.96217366
8Abnormality of mucopolysaccharide metabolism (HP:0011020)2.92899908
9Abnormality of polysaccharide metabolism (HP:0011012)2.92899908
10Abnormality of glycosaminoglycan metabolism (HP:0004371)2.92899908
11Sudden death (HP:0001699)2.88979903
12Mucopolysacchariduria (HP:0008155)2.86874508
13Urinary glycosaminoglycan excretion (HP:0003541)2.86874508
14Neurofibrillary tangles (HP:0002185)2.83641395
15Supranuclear gaze palsy (HP:0000605)2.82318350
16Type 1 muscle fiber predominance (HP:0003803)2.80641597
17Bundle branch block (HP:0011710)2.80083031
18Abnormality of binocular vision (HP:0011514)2.75453494
19Diplopia (HP:0000651)2.75453494
20Exercise-induced myalgia (HP:0003738)2.70987166
21Asymmetric septal hypertrophy (HP:0001670)2.67043166
22Abnormality of calcium-phosphate metabolism (HP:0100530)2.62207656
23Overgrowth (HP:0001548)2.55954032
24Systemic lupus erythematosus (HP:0002725)2.47639080
25Cerebral aneurysm (HP:0004944)2.41770592
26Hyporeflexia of lower limbs (HP:0002600)2.37483592
27Glomerulonephritis (HP:0000099)2.36255863
28Cerebral inclusion bodies (HP:0100314)2.35820100
29Dysmetric saccades (HP:0000641)2.32210446
30Facial diplegia (HP:0001349)2.31753651
31J-shaped sella turcica (HP:0002680)2.30691575
32Action tremor (HP:0002345)2.30193741
33Ventricular fibrillation (HP:0001663)2.24630161
34Metaphyseal dysplasia (HP:0100255)2.23534349
35Mitral stenosis (HP:0001718)2.23509360
36Mild short stature (HP:0003502)2.23289184
37Muscle fiber inclusion bodies (HP:0100299)2.18738591
38Hypophosphatemic rickets (HP:0004912)2.15866444
39Increased cerebral lipofuscin (HP:0011813)2.15388717
40Increased density of long bones (HP:0006392)2.14174120
41Nuclear cataract (HP:0100018)2.12306595
42Increased CSF protein (HP:0002922)2.10414729
43Nemaline bodies (HP:0003798)2.09514546
44Axonal loss (HP:0003447)2.07907999
45Muscle fiber cytoplasmatic inclusion bodies (HP:0100303)2.04602403
46Febrile seizures (HP:0002373)2.03755141
47EMG: myopathic abnormalities (HP:0003458)1.99160720
48Postural instability (HP:0002172)1.97450555
49Truncal ataxia (HP:0002078)1.96744165
50Ankle clonus (HP:0011448)1.96677036
51Vertebral compression fractures (HP:0002953)1.95673551
52Abnormal atrioventricular conduction (HP:0005150)1.94686658
53Complement deficiency (HP:0004431)1.94326328
54Mutism (HP:0002300)1.92830369
55Spontaneous hematomas (HP:0007420)1.90855499
56Round ear (HP:0100830)1.88861076
57Increased neuronal autofluorescent lipopigment (HP:0002074)1.88648190
58Increased variability in muscle fiber diameter (HP:0003557)1.88097954
59Rigidity (HP:0002063)1.88021704
60Cardiovascular calcification (HP:0011915)1.87604346
61Centrally nucleated skeletal muscle fibers (HP:0003687)1.87198546
62Abnormality of the vertebral endplates (HP:0005106)1.86583226
63Heart block (HP:0012722)1.86517447
64Upper limb amyotrophy (HP:0009129)1.86377232
65Distal upper limb amyotrophy (HP:0007149)1.86377232
66Intracellular accumulation of autofluorescent lipopigment storage material (HP:0003204)1.84294931
67Neuronal loss in central nervous system (HP:0002529)1.82904694
68* Craniofacial hyperostosis (HP:0004493)1.82239842
69Muscle fiber splitting (HP:0003555)1.82194746
70Vascular calcification (HP:0004934)1.82182435
71Distal lower limb muscle weakness (HP:0009053)1.82129673
72Loss of speech (HP:0002371)1.82038686
73Ventricular arrhythmia (HP:0004308)1.81509485
74Malnutrition (HP:0004395)1.80849047
75Progressive visual loss (HP:0000529)1.77465266
76Increased connective tissue (HP:0009025)1.77066066
77Osteolytic defects of the phalanges of the hand (HP:0009771)1.76510567
78Osteolytic defects of the hand bones (HP:0009699)1.76510567
79Hypophosphatemia (HP:0002148)1.76337300
80Hyperkalemia (HP:0002153)1.74553719
81Insulin-resistant diabetes mellitus (HP:0000831)1.74359964
82Abnormality of skeletal muscle fiber size (HP:0012084)1.74097009
83Syncope (HP:0001279)1.72687430
84Aneurysm (HP:0002617)1.71263056
85Vacuolated lymphocytes (HP:0001922)1.70700318
86Intention tremor (HP:0002080)1.66984649
87Hand muscle atrophy (HP:0009130)1.66830309
88Spondylolisthesis (HP:0003302)1.66768696
89Difficulty running (HP:0009046)1.66173698
90Xanthomatosis (HP:0000991)1.65793957
91Aortic aneurysm (HP:0004942)1.65588943
92Prolonged QT interval (HP:0001657)1.65191309
93* Cranial hyperostosis (HP:0004437)1.64415538
94Tibial bowing (HP:0002982)1.62846635
95Ulnar deviation of the wrist (HP:0003049)1.62728155
96Abnormality of the left ventricular outflow tract (HP:0011103)1.62381478
97Subaortic stenosis (HP:0001682)1.62381478
98Spinal cord compression (HP:0002176)1.60597483
99Broad ribs (HP:0000885)1.60454366
100Depression (HP:0000716)1.60441665

Predicted kinase interactions (KEA)

RankGene SetZ-score
1DAPK22.53415104
2RIPK12.51207117
3PHKG12.34792768
4PHKG22.34792768
5PRPF4B2.18728758
6TTN2.09465414
7OBSCN1.91218641
8CAMKK21.87794315
9MAP3K131.87678026
10ERN11.87211669
11AKT31.75656865
12NTRK31.74855143
13CAMKK11.68605421
14MAPK121.68258187
15FRK1.60429828
16CAMK1D1.48978014
17TRPM71.45445929
18CAMK1G1.42291931
19TGFBR21.39300798
20TRIB31.34059218
21CDC42BPA1.29646206
22PAK61.24132953
23MAP2K61.20258177
24FGFR31.19219160
25EPHA41.17208240
26TNK21.16969310
27STK381.15174537
28DDR21.14608379
29PDPK11.13071578
30TAOK11.11988098
31SGK31.11685028
32MARK21.10451770
33MAP3K11.08982595
34ACVR1B1.07403425
35PDK11.06792679
36WNK11.06367094
37DMPK1.04676730
38SGK21.04598425
39ICK1.04351742
40PRKD31.02906709
41JAK11.02095286
42MAP3K90.99751027
43MAP3K70.99071999
44SGK2230.97756923
45SGK4940.97756923
46MYLK0.96962811
47LMTK20.96781254
48CAMK10.96053026
49KSR20.94532084
50HIPK20.93733347
51MAP3K30.91934822
52MAP3K20.89709657
53PDGFRA0.89484755
54MAPK70.88992176
55BLK0.87362829
56TESK10.86144002
57IRAK30.85426450
58PAK30.84625307
59PRKAA20.83353000
60RIPK40.82595517
61PRKD20.82362115
62CAMK40.82128101
63EEF2K0.81809723
64TYK20.81725062
65MAP2K30.80955228
66UHMK10.79958163
67SIK10.79115467
68PDK20.78971748
69MAPK110.77500371
70FGFR40.74960546
71EPHA30.73137447
72MAP3K110.72584548
73MARK10.72152866
74EPHB10.70968962
75STK110.70293808
76SGK10.69959825
77PRKCH0.68713358
78ZAP700.67119615
79CAMK2B0.65991909
80NLK0.65736293
81PDGFRB0.63309285
82CDK50.62672163
83NTRK20.60986326
84ARAF0.60762206
85NEK60.59943253
86PRKAA10.59105968
87RET0.57803344
88TAOK20.55229153
89PINK10.54502142
90CDK120.53654018
91MTOR0.53155061
92PKN20.52446588
93CAMK2D0.52159849
94LIMK10.51309330
95PTK20.50622788
96SIK20.49892983
97PIK3CG0.49801936
98MAP3K140.47687655
99MAP2K10.46791494
100MAP3K60.46424842

Predicted pathways (KEGG)

RankGene SetZ-score
1Insulin secretion_Homo sapiens_hsa049112.00259597
2Other glycan degradation_Homo sapiens_hsa005111.96634955
3Synaptic vesicle cycle_Homo sapiens_hsa047211.91260700
4Endocrine and other factor-regulated calcium reabsorption_Homo sapiens_hsa049611.85016025
5Proximal tubule bicarbonate reclamation_Homo sapiens_hsa049641.78056536
6Long-term potentiation_Homo sapiens_hsa047201.77979640
7Renin secretion_Homo sapiens_hsa049241.68553787
8Glycosaminoglycan degradation_Homo sapiens_hsa005311.48632253
9Circadian rhythm_Homo sapiens_hsa047101.47636822
10Aldosterone synthesis and secretion_Homo sapiens_hsa049251.46054853
11Lysosome_Homo sapiens_hsa041421.41439077
12GnRH signaling pathway_Homo sapiens_hsa049121.29018691
13Amphetamine addiction_Homo sapiens_hsa050311.28695120
14Aldosterone-regulated sodium reabsorption_Homo sapiens_hsa049601.27044288
15Gastric acid secretion_Homo sapiens_hsa049711.25494098
16Mineral absorption_Homo sapiens_hsa049781.24515470
17Adrenergic signaling in cardiomyocytes_Homo sapiens_hsa042611.23744827
18Circadian entrainment_Homo sapiens_hsa047131.21629315
19cGMP-PKG signaling pathway_Homo sapiens_hsa040221.21265715
20Bile secretion_Homo sapiens_hsa049761.17659336
21Dilated cardiomyopathy_Homo sapiens_hsa054141.16482320
22Phosphatidylinositol signaling system_Homo sapiens_hsa040701.14976021
23Salivary secretion_Homo sapiens_hsa049701.13966067
24Oxytocin signaling pathway_Homo sapiens_hsa049211.12180398
25Type II diabetes mellitus_Homo sapiens_hsa049301.11876933
26Vascular smooth muscle contraction_Homo sapiens_hsa042701.11458414
27Inflammatory mediator regulation of TRP channels_Homo sapiens_hsa047501.08666677
28Glucagon signaling pathway_Homo sapiens_hsa049221.07158667
29Glutamatergic synapse_Homo sapiens_hsa047241.05767292
30Glycosphingolipid biosynthesis - ganglio series_Homo sapiens_hsa006041.04315124
31Prion diseases_Homo sapiens_hsa050201.03907949
32Calcium signaling pathway_Homo sapiens_hsa040201.02865684
33Regulation of lipolysis in adipocytes_Homo sapiens_hsa049231.02018977
34Pancreatic secretion_Homo sapiens_hsa049721.00265534
35GABAergic synapse_Homo sapiens_hsa047271.00019896
36Complement and coagulation cascades_Homo sapiens_hsa046100.99974753
37Adipocytokine signaling pathway_Homo sapiens_hsa049200.98953238
38Morphine addiction_Homo sapiens_hsa050320.98383760
39mTOR signaling pathway_Homo sapiens_hsa041500.97260120
40Retrograde endocannabinoid signaling_Homo sapiens_hsa047230.97240142
41Estrogen signaling pathway_Homo sapiens_hsa049150.97137089
42Collecting duct acid secretion_Homo sapiens_hsa049660.97094621
43Cholinergic synapse_Homo sapiens_hsa047250.94788841
44Dorso-ventral axis formation_Homo sapiens_hsa043200.94646471
45Insulin resistance_Homo sapiens_hsa049310.93717925
46Osteoclast differentiation_Homo sapiens_hsa043800.92285888
47Arginine biosynthesis_Homo sapiens_hsa002200.91768439
48Hypertrophic cardiomyopathy (HCM)_Homo sapiens_hsa054100.90061939
49Carbohydrate digestion and absorption_Homo sapiens_hsa049730.88351559
50Phospholipase D signaling pathway_Homo sapiens_hsa040720.85880507
51cAMP signaling pathway_Homo sapiens_hsa040240.85309181
52Insulin signaling pathway_Homo sapiens_hsa049100.82332924
53Dopaminergic synapse_Homo sapiens_hsa047280.81830878
54Glioma_Homo sapiens_hsa052140.81140410
55Inositol phosphate metabolism_Homo sapiens_hsa005620.80097810
56VEGF signaling pathway_Homo sapiens_hsa043700.79989667
57ABC transporters_Homo sapiens_hsa020100.79795865
58Phenylalanine, tyrosine and tryptophan biosynthesis_Homo sapiens_hsa004000.79739355
59Cocaine addiction_Homo sapiens_hsa050300.79341235
60Vibrio cholerae infection_Homo sapiens_hsa051100.79318398
61AGE-RAGE signaling pathway in diabetic complications_Homo sapiens_hsa049330.79188772
62Maturity onset diabetes of the young_Homo sapiens_hsa049500.76709132
63Focal adhesion_Homo sapiens_hsa045100.74659121
64ECM-receptor interaction_Homo sapiens_hsa045120.73678363
65Thyroid hormone synthesis_Homo sapiens_hsa049180.73530379
66Vasopressin-regulated water reabsorption_Homo sapiens_hsa049620.73294109
67Protein digestion and absorption_Homo sapiens_hsa049740.72736747
68Vitamin B6 metabolism_Homo sapiens_hsa007500.71941295
69Long-term depression_Homo sapiens_hsa047300.71188081
70Longevity regulating pathway - mammal_Homo sapiens_hsa042110.70969773
71Thyroid hormone signaling pathway_Homo sapiens_hsa049190.70801925
72Glycosaminoglycan biosynthesis - chondroitin sulfate / dermatan sulfate_Homo sapiens_hsa005320.69952554
73Amoebiasis_Homo sapiens_hsa051460.69609618
74PPAR signaling pathway_Homo sapiens_hsa033200.69358195
75Chagas disease (American trypanosomiasis)_Homo sapiens_hsa051420.67610921
76Histidine metabolism_Homo sapiens_hsa003400.66818946
77Nicotine addiction_Homo sapiens_hsa050330.63331456
78Staphylococcus aureus infection_Homo sapiens_hsa051500.63278875
79Longevity regulating pathway - multiple species_Homo sapiens_hsa042130.61879706
80Platelet activation_Homo sapiens_hsa046110.60135762
81AMPK signaling pathway_Homo sapiens_hsa041520.59825496
82Neurotrophin signaling pathway_Homo sapiens_hsa047220.57346530
83Arrhythmogenic right ventricular cardiomyopathy (ARVC)_Homo sapiens_hsa054120.56954428
84Renal cell carcinoma_Homo sapiens_hsa052110.56027645
85Serotonergic synapse_Homo sapiens_hsa047260.55905044
86FoxO signaling pathway_Homo sapiens_hsa040680.54911943
87Ovarian steroidogenesis_Homo sapiens_hsa049130.53327949
88Tuberculosis_Homo sapiens_hsa051520.53309164
89Prolactin signaling pathway_Homo sapiens_hsa049170.52888723
90Sphingolipid signaling pathway_Homo sapiens_hsa040710.52395657
91Sphingolipid metabolism_Homo sapiens_hsa006000.50412079
92Toll-like receptor signaling pathway_Homo sapiens_hsa046200.49907913
93Primary bile acid biosynthesis_Homo sapiens_hsa001200.48698084
94MAPK signaling pathway_Homo sapiens_hsa040100.46503445
95Non-small cell lung cancer_Homo sapiens_hsa052230.46120005
96Alanine, aspartate and glutamate metabolism_Homo sapiens_hsa002500.45030015
97ErbB signaling pathway_Homo sapiens_hsa040120.43881769
98Fc gamma R-mediated phagocytosis_Homo sapiens_hsa046660.43747313
99Epithelial cell signaling in Helicobacter pylori infection_Homo sapiens_hsa051200.43701752
100Pertussis_Homo sapiens_hsa051330.42948323

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