Property Summary

Ligand Count 7
NCBI Gene PubMed Count 236
PubMed Score 1018.94
PubTator Score 1013.49

Knowledge Summary

Patent (10,635)

TINX Plot

  Disease (8)

Disease Target Count
Myopathy 185
Absent reflex 92
Absent tendon reflex 92
Acquired flat foot 72
Acquired scoliosis 281
Autosomal recessive predisposition 1442
Axial muscle weakness 6
Bell Palsy 58
Blepharoptosis 231
Blood Coagulation Disorders 42
Bulbar palsy 19
Bulbar weakness 19
Byzanthine arch palate 194
Cardiomyopathy, Dilated 83
Central Core Myopathy (disorder) 1
Centrally nucleated skeletal muscle fibers 10
Chronic progressive external ophthalmoplegia 26
Congenital Structural Myopathy 4
Congenital hypoplasia of lung 48
Contracture 96
Contracture of joint 93
Creatine phosphokinase serum increased 110
Curvature of spine 282
Deglutition Disorders 132
Difficulty running 7
Elevated creatine kinase 110
Elevated heart rate 25
Exercise-induced myalgia 8
External Ophthalmoplegia 6
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Failure to gain weight 365
Feeding difficulties 127
Feeding difficulties in infancy 175
Fever 138
Flatfoot 73
Flexion contracture 93
Flexion contractures of joints 93
Generalized muscle weakness 57
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Highly variable severity 157
Hip Dislocation, Congenital 48
Hydrops Fetalis 21
Hyperkalemia 17
Hyperphosphatemia (disorder) 17
Hypotension 82
Increased connective tissue 7
Infantile onset 238
Joint laxity 54
King Denborough syndrome 1
Kyphoscoliosis deformity of spine 60
Long face 71
Lumbar lordosis 35
MINICORE MYOPATHY WITH EXTERNAL OPHTHALMOPLEGIA (disorder) 2
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 5
Malignant hyperpyrexia due to anesthesia 10
Mixed respiratory and metabolic acidosis 1
Motor delay 147
Muscle Rigidity 49
Muscle biopsy shows dystrophic changes 39
Muscle hypotonia 571
Muscular dystrophy 75
Myoglobinuria 15
Myopathic facies 13
Myopathy, Centronuclear, Autosomal Dominant 5
Narrow face 54
Nemaline rods 7
Neonatal Hypotonia 64
Neonatal onset 21
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
No development of motor milestones 147
Nonprogressive 12
Pediatric failure to thrive 365
Phenotypic variability 150
Polyhydramnios 108
Prenatal onset 139
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
Recurrent respiratory infections 141
Reduced fetal movement 51
Reflex, Deep Tendon, Absent 92
Renal Cell Carcinoma 214
Respiratory Insufficiency 132
Respiratory function loss 121
Respiratory insufficiency due to muscle weakness 37
Rhabdomyolysis 15
SERUM PHOSPHATE ELEVATED 14
Skeletal muscle atrophy 139
Slow progression 89
Tachycardia 43
Thin face 54
Type 1 and type 2 muscle fiber minicore regions 1
Type 1 fibers relatively smaller than type 2 fibers 5
Type 1 muscle fiber predominance 10
Variable expressivity 157
Variation in muscle fiber size 16
Weak cry 17
muscle degeneration 139

Expression

  Differential Expression (7)

Disease log2 FC p
adult high grade glioma -1.100 3.6e-03
atypical teratoid / rhabdoid tumor -1.500 2.5e-05
ependymoma -1.300 1.2e-04
esophageal adenocarcinoma -1.200 2.0e-02
group 3 medulloblastoma -2.400 2.4e-06
medulloblastoma, large-cell -1.100 1.7e-02
psoriasis -1.400 9.3e-04

Gene RIF (178)

AA Sequence

MGDAEGEDEVQFLRTDDEVVLQCSATVLKEQLKLCLAAEGFGNRLCFLEPTSNAQNVPPDLAICCFVLEQ      1 - 70
SLSVRALQEMLANTVEAGVESSQGGGHRTLLYGHAILLRHAHSRMYLSCLTTSRSMTDKLAFDVGLQEDA     71 - 140
TGEACWWTMHPASKQRSEGEKVRVGDDIILVSVSSERYLHLSTASGELQVDASFMQTLWNMNPICSRCEE    141 - 210
GFVTGGHVLRLFHGHMDECLTISPADSDDQRRLVYYEGGAVCTHARSLWRLEPLRISWSGSHLRWGQPLR    211 - 280
VRHVTTGQYLALTEDQGLVVVDASKAHTKATSFCFRISKEKLDVAPKRDVEGMGPPEIKYGESLCFVQHV    281 - 350
ASGLWLTYAAPDPKALRLGVLKKKAMLHQEGHMDDALSLTRCQQEESQAARMIHSTNGLYNQFIKSLDSF    351 - 420
SGKPRGSGPPAGTALPIEGVILSLQDLIIYFEPPSEDLQHEEKQSKLRSLRNRQSLFQEEGMLSMVLNCI    421 - 490
DRLNVYTTAAHFAEFAGEEAAESWKEIVNLLYELLASLIRGNRSNCALFSTNLDWLVSKLDRLEASSGIL    491 - 560
EVLYCVLIESPEVLNIIQENHIKSIISLLDKHGRNHKVLDVLCSLCVCNGVAVRSNQDLITENLLPGREL    561 - 630
LLQTNLINYVTSIRPNIFVGRAEGTTQYSKWYFEVMVDEVTPFLTAQATHLRVGWALTEGYTPYPGAGEG    631 - 700
WGGNGVGDDLYSYGFDGLHLWTGHVARPVTSPGQHLLAPEDVISCCLDLSVPSISFRINGCPVQGVFESF    701 - 770
NLDGLFFPVVSFSAGVKVRFLLGGRHGEFKFLPPPGYAPCHEAVLPRERLHLEPIKEYRREGPRGPHLVG    771 - 840
PSRCLSHTDFVPCPVDTVQIVLPPHLERIREKLAENIHELWALTRIEQGWTYGPVRDDNKRLHPCLVDFH    841 - 910
SLPEPERNYNLQMSGETLKTLLALGCHVGMADEKAEDNLKKTKLPKTYMMSNGYKPAPLDLSHVRLTPAQ    911 - 980
TTLVDRLAENGHNVWARDRVGQGWSYSAVQDIPARRNPRLVPYRLLDEATKRSNRDSLCQAVRTLLGYGY    981 - 1050
NIEPPDQEPSQVENQSRCDRVRIFRAEKSYTVQSGRWYFEFEAVTTGEMRVGWARPELRPDVELGADELA   1051 - 1120
YVFNGHRGQRWHLGSEPFGRPWQPGDVVGCMIDLTENTIIFTLNGEVLMSDSGSETAFREIEIGDGFLPV   1121 - 1190
CSLGPGQVGHLNLGQDVSSLRFFAICGLQEGFEPFAINMQRPVTTWFSKGLPQFEPVPLEHPHYEVSRVD   1191 - 1260
GTVDTPPCLRLTHRTWGSQNSLVEMLFLRLSLPVQFHQHFRCTAGATPLAPPGLQPPAEDEARAAEPDPD   1261 - 1330
YENLRRSAGGWSEAENGKEGTAKEGAPGGTPQAGGEAQPARAENEKDATTEKNKKRGFLFKAKKVAMMTQ   1331 - 1400
PPATPTLPRLPHDVVPADNRDDPEIILNTTTYYYSVRVFAGQEPSCVWAGWVTPDYHQHDMSFDLSKVRV   1401 - 1470
VTVTMGDEQGNVHSSLKCSNCYMVWGGDFVSPGQQGRISHTDLVIGCLVDLATGLMTFTANGKESNTFFQ   1471 - 1540
VEPNTKLFPAVFVLPTHQNVIQFELGKQKNIMPLSAAMFQSERKNPAPQCPPRLEMQMLMPVSWSRMPNH   1541 - 1610
FLQVETRRAGERLGWAVQCQEPLTMMALHIPEENRCMDILELSERLDLQRFHSHTLRLYRAVCALGNNRV   1611 - 1680
AHALCSHVDQAQLLHALEDAHLPGPLRAGYYDLLISIHLESACRSRRSMLSEYIVPLTPETRAITLFPPG   1681 - 1750
RSTENGHPRHGLPGVGVTTSLRPPHHFSPPCFVAALPAAGAAEAPARLSPAIPLEALRDKALRMLGEAVR   1751 - 1820
DGGQHARDPVGGSVEFQFVPVLKLVSTLLVMGIFGDEDVKQILKMIEPEVFTEEEEEEDEEEEGEEEDEE   1821 - 1890
EKEEDEEETAQEKEDEEKEEEEAAEGEKEEGLEEGLLQMKLPESVKLQMCHLLEYFCDQELQHRVESLAA   1891 - 1960
FAERYVDKLQANQRSRYGLLIKAFSMTAAETARRTREFRSPPQEQINMLLQFKDGTDEEDCPLPEEIRQD   1961 - 2030
LLDFHQDLLAHCGIQLDGEEEEPEEETTLGSRLMSLLEKVRLVKKKEEKPEEERSAEESKPRSLQELVSH   2031 - 2100
MVVRWAQEDFVQSPELVRAMFSLLHRQYDGLGELLRALPRAYTISPSSVEDTMSLLECLGQIRSLLIVQM   2101 - 2170
GPQEENLMIQSIGNIMNNKVFYQHPNLMRALGMHETVMEVMVNVLGGGESKEIRFPKMVTSCCRFLCYFC   2171 - 2240
RISRQNQRSMFDHLSYLLENSGIGLGMQGSTPLDVAAASVIDNNELALALQEQDLEKVVSYLAGCGLQSC   2241 - 2310
PMLVAKGYPDIGWNPCGGERYLDFLRFAVFVNGESVEENANVVVRLLIRKPECFGPALRGEGGSGLLAAI   2311 - 2380
EEAIRISEDPARDGPGIRRDRRREHFGEEPPEENRVHLGHAIMSFYAALIDLLGRCAPEMHLIQAGKGEA   2381 - 2450
LRIRAILRSLVPLEDLVGIISLPLQIPTLGKDGALVQPKMSASFVPDHKASMVLFLDRVYGIENQDFLLH   2451 - 2520
VLDVGFLPDMRAAASLDTATFSTTEMALALNRYLCLAVLPLITKCAPLFAGTEHRAIMVDSMLHTVYRLS   2521 - 2590
RGRSLTKAQRDVIEDCLMSLCRYIRPSMLQHLLRRLVFDVPILNEFAKMPLKLLTNHYERCWKYYCLPTG   2591 - 2660
WANFGVTSEEELHLTRKLFWGIFDSLAHKKYDPELYRMAMPCLCAIAGALPPDYVDASYSSKAEKKATVD   2661 - 2730
AEGNFDPRPVETLNVIIPEKLDSFINKFAEYTHEKWAFDKIQNNWSYGENIDEELKTHPMLRPYKTFSEK   2731 - 2800
DKEIYRWPIKESLKAMIAWEWTIEKAREGEEEKTEKKKTRKISQSAQTYDPREGYNPQPPDLSAVTLSRE   2801 - 2870
LQAMAEQLAENYHNTWGRKKKQELEAKGGGTHPLLVPYDTLTAKEKARDREKAQELLKFLQMNGYAVTRG   2871 - 2940
LKDMELDSSSIEKRFAFGFLQQLLRWMDISQEFIAHLEAVVSSGRVEKSPHEQEIKFFAKILLPLINQYF   2941 - 3010
TNHCLYFLSTPAKVLGSGGHASNKEKEMITSLFCKLAALVRHRVSLFGTDAPAVVNCLHILARSLDARTV   3011 - 3080
MKSGPEIVKAGLRSFFESASEDIEKMVENLRLGKVSQARTQVKGVGQNLTYTTVALLPVLTTLFQHIAQH   3081 - 3150
QFGDDVILDDVQVSCYRTLCSIYSLGTTKNTYVEKLRPALGECLARLAAAMPVAFLEPQLNEYNACSVYT   3151 - 3220
TKSPRERAILGLPNSVEEMCPDIPVLERLMADIGGLAESGARYTEMPHVIEITLPMLCSYLPRWWERGPE   3221 - 3290
APPSALPAGAPPPCTAVTSDHLNSLLGNILRIIVNNLGIDEASWMKRLAVFAQPIVSRARPELLQSHFIP   3291 - 3360
TIGRLRKRAGKVVSEEEQLRLEAKAEAQEGELLVRDEFSVLCRDLYALYPLLIRYVDNNRAQWLTEPNPS   3361 - 3430
AEELFRMVGEIFIYWSKSHNFKREEQNFVVQNEINNMSFLTADNKSKMAKAGDIQSGGSDQERTKKKRRG   3431 - 3500
DRYSVQTSLIVATLKKMLPIGLNMCAPTDQDLITLAKTRYALKDTDEEVREFLHNNLHLQGKVEGSPSLR   3501 - 3570
WQMALYRGVPGREEDADDPEKIVRRVQEVSAVLYYLDQTEHPYKSKKAVWHKLLSKQRRRAVVACFRMTP   3571 - 3640
LYNLPTHRACNMFLESYKAAWILTEDHSFEDRMIDDLSKAGEQEEEEEEVEEKKPDPLHQLVLHFSRTAL   3641 - 3710
TEKSKLDEDYLYMAYADIMAKSCHLEEGGENGEAEEEVEVSFEEKQMEKQRLLYQQARLHTRGAAEMVLQ   3711 - 3780
MISACKGETGAMVSSTLKLGISILNGGNAEVQQKMLDYLKDKKEVGFFQSIQALMQTCSVLDLNAFERQN   3781 - 3850
KAEGLGMVNEDGTVINRQNGEKVMADDEFTQDLFRFLQLLCEGHNNDFQNYLRTQTGNTTTINIIICTVD   3851 - 3920
YLLRLQESISDFYWYYSGKDVIEEQGKRNFSKAMSVAKQVFNSLTEYIQGPCTGNQQSLAHSRLWDAVVG   3921 - 3990
FLHVFAHMMMKLAQDSSQIELLKELLDLQKDMVVMLLSLLEGNVVNGMIARQMVDMLVESSSNVEMILKF   3991 - 4060
FDMFLKLKDIVGSEAFQDYVTDPRGLISKKDFQKAMDSQKQFSGPEIQFLLSCSEADENEMINCEEFANR   4061 - 4130
FQEPARDIGFNVAVLLTNLSEHVPHDPRLHNFLELAESILEYFRPYLGRIEIMGASRRIERIYFEISETN   4131 - 4200
RAQWEMPQVKESKRQFIFDVVNEGGEAEKMELFVSFCEDTIFEMQIAAQISEPEGEPETDEDEGAGAAEA   4201 - 4270
GAEGAEEGAAGLEGTAATAAAGATARVVAAAGRALRGLSYRSLRRRVRRLRRLTAREAATAVAALLWAAV   4271 - 4340
TRAGAAGAGAAAGALGLLWGSLFGGGLVEGAKKVTVTELLAGMPDPTSDEVHGEQPAGPGGDADGEGASE   4341 - 4410
GAGDAAEGAGDEEEAVHEAGPGGADGAVAVTDGGPFRPEGAGGLGDMGDTTPAEPPTPEGSPILKRKLGV   4411 - 4480
DGVEEELPPEPEPEPEPELEPEKADAENGEKEEVPEPTPEPPKKQAPPSPPPKKEEAGGEFWGELEVQRV   4481 - 4550
KFLNYLSRNFYTLRFLALFLAFAINFILLFYKVSDSPPGEDDMEGSAAGDVSGAGSGGSSGWGLGAGEEA   4551 - 4620
EGDEDENMVYYFLEESTGYMEPALRCLSLLHTLVAFLCIIGYNCLKVPLVIFKREKELARKLEFDGLYIT   4621 - 4690
EQPEDDDVKGQWDRLVLNTPSFPSNYWDKFVKRKVLDKHGDIYGRERIAELLGMDLATLEITAHNERKPN   4691 - 4760
PPPGLLTWLMSIDVKYQIWKFGVIFTDNSFLYLGWYMVMSLLGHYNNFFFAAHLLDIAMGVKTLRTILSS   4761 - 4830
VTHNGKQLVMTVGLLAVVVYLYTVVAFNFFRKFYNKSEDEDEPDMKCDDMMTCYLFHMYVGVRAGGGIGD   4831 - 4900
EIEDPAGDEYELYRVVFDITFFFFVIVILLAIIQGLIIDAFGELRDQQEQVKEDMETKCFICGIGSDYFD   4901 - 4970
TTPHGFETHTLEEHNLANYMFFLMYLINKDETEHTGQESYVWKMYQERCWDFFPAGDCFRKQYEDQLS     4971 - 5038
//

Text Mined References (260)

PMID Year Title