Property Summary

NCBI Gene PubMed Count 87
PubMed Score 104.66
PubTator Score 85.80

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Muscular dystrophy 75
Ossification of the posterior longitudinal ligament of spine 9
Acquired scoliosis 281
Ankle contracture 9
Autosomal recessive predisposition 1442
Bell Palsy 58
Byzanthine arch palate 194
Cachexia 50
Cardiovascular Abnormalities 31
Cardiovascular Diseases 59
Cervical Dystonia 26
Congenital clubfoot 109
Congenital muscular dystrophy (disorder) 14
Congenital torticollis 6
Contracture 96
Contracture of joint 93
Creatine phosphokinase serum increased 110
Curvature of spine 282
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
Electromyogram abnormal 49
Elevated creatine kinase 110
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Failure to gain weight 365
Feeding difficulties in infancy 175
Flexion contracture 93
Flexion contracture - elbow 32
Flexion contracture of proximal interphalangeal joint 75
Flexion contractures of joints 93
Generalized amyotrophy 20
Highly variable severity 157
Hyperhidrosis disorder 81
Hyperkyphosis 111
Increased laxity of ankles 3
Increased laxity of fingers 3
Increased laxity of wrists 3
Increased sweating 81
Infantile onset 238
Joint laxity 54
Joint stiffness 84
Kyphosis deformity of spine 114
Limb-girdle muscle weakness 12
Lower respiratory tract infection 14
Mildly increased creatine kinase 20
Motor delay 147
Muscle fiber necrosis 6
Myopathy 185
Neonatal Hypotonia 64
No development of motor milestones 147
Nocturnal hypoventilation 3
Pediatric failure to thrive 365
Phrynoderma 11
Progressive disorder 142
Prominent ear 56
Protruding ears 56
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
Recurrent lower respiratory tract infection 12
Reduced fetal movement 51
Respiratory insufficiency due to muscle weakness 37
Round face 45
Round, full face 45
Slender build 14
Slow progression 89
Spasmodic torticollis 17
Spinal rigidity 13
Spontaneous abortion 113
Sweating 81
Torticollis 18
Type 1 muscle fiber predominance 10
Variable expressivity 157
Variation in muscle fiber size 16
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 1.0
Kidney cancer 2613 0.0 0.7
Liver cancer 604 0.0 0.5
Disease Target Count Z-score Confidence
Congenital muscular dystrophy 29 0.0 4.0
Disease Target Count Z-score Confidence
Down syndrome 499 4.204 2.1

Expression

  Differential Expression (32)

 MGI Phenotype (1)

Gene RIF (50)

AA Sequence

MRAARALLPLLLQACWTAAQDEPETPRAVAFQDCPVDLFFVLDTSESVALRLKPYGALVDKVKSFTKRFI      1 - 70
DNLRDRYYRCDRNLVWNAGALHYSDEVEIIQGLTRMPGGRDALKSSVDAVKYFGKGTYTDCAIKKGLEQL     71 - 140
LVGGSHLKENKYLIVVTDGHPLEGYKEPCGGLEDAVNEAKHLGVKVFSVAITPDHLEPRLSIIATDHTYR    141 - 210
RNFTAADWGQSRDAEEAISQTIDTIVDMIKNNVEQVCCSFECQPARGPPGLRGDPGFEGERGKPGLPGEK    211 - 280
GEAGDPGRPGDLGPVGYQGMKGEKGSRGEKGSRGPKGYKGEKGKRGIDGVDGVKGEMGYPGLPGCKGSPG    281 - 350
FDGIQGPPGPKGDPGAFGLKGEKGEPGADGEAGRPGSSGPSGDEGQPGEPGPPGEKGEAGDEGNPGPDGA    351 - 420
PGERGGPGERGPRGTPGTRGPRGDPGEAGPQGDQGREGPVGVPGDPGEAGPIGPKGYRGDEGPPGSEGAR    421 - 490
GAPGPAGPPGDPGLMGERGEDGPAGNGTEGFPGFPGYPGNRGAPGINGTKGYPGLKGDEGEAGDPGDDNN    491 - 560
DIAPRGVKGAKGYRGPEGPQGPPGHQGPPGPDECEILDIIMKMCSCCECKCGPIDLLFVLDSSESIGLQN    561 - 630
FEIAKDFVVKVIDRLSRDELVKFEPGQSYAGVVQYSHSQMQEHVSLRSPSIRNVQELKEAIKSLQWMAGG    631 - 700
TFTGEALQYTRDQLLPPSPNNRIALVITDGRSDTQRDTTPLNVLCSPGIQVVSVGIKDVFDFIPGSDQLN    701 - 770
VISCQGLAPSQGRPGLSLVKENYAELLEDAFLKNVTAQICIDKKCPDYTCPITFSSPADITILLDGSASV    771 - 840
GSHNFDTTKRFAKRLAERFLTAGRTDPAHDVRVAVVQYSGTGQQRPERASLQFLQNYTALASAVDAMDFI    841 - 910
NDATDVNDALGYVTRFYREASSGAAKKRLLLFSDGNSQGATPAAIEKAVQEAQRAGIEIFVVVVGRQVNE    911 - 980
PHIRVLVTGKTAEYDVAYGESHLFRVPSYQALLRGVFHQTVSRKVALG                          981 - 1028
//

Text Mined References (92)

PMID Year Title