Property Summary

NCBI Gene PubMed Count 60
PubMed Score 59.20
PubTator Score 55.81

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
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
Contracture of tendo achilles 10
Creatine phosphokinase serum increased 110
Curvature of spine 282
Degenerative polyarthritis 115
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 connective tissue 7
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
Lumbar lordosis 35
Mildly increased creatine kinase 20
Motor delay 147
Muscle fiber necrosis 6
Myopathy 185
Neonatal Hypotonia 64
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
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 Depression 10
Respiratory insufficiency due to muscle weakness 37
Restricted neck movement due to contractures 2
Round face 45
Round, full face 45
Short stature 531
Skeletal muscle atrophy 139
Slender build 14
Slow progression 89
Spasmodic torticollis 17
Spinal rigidity 13
Sweating 81
Thoracolumbar scoliosis 4
Torticollis 18
Type 1 muscle fiber predominance 10
Variable expressivity 157
Variation in muscle fiber size 16
muscle degeneration 139
Disease Target Count Z-score Confidence
Breast cancer 3578 0.0 0.5
Carcinoma 11493 0.0 1.1
DOID:2627 94 0.0 0.5
Disease Target Count Z-score Confidence
Congenital muscular dystrophy 29 0.0 4.0
Disease Target Count Z-score Confidence
Muscular dystrophy 75 5.848 2.9

Expression

  Differential Expression (32)

 IMPC Phenotype (1)

Gene RIF (22)

AA Sequence

MLQGTCSVLLLWGILGAIQAQQQEVISPDTTERNNNCPEKTDCPIHVYFVLDTSESVTMQSPTDILLFHM      1 - 70
KQFVPQFISQLQNEFYLDQVALSWRYGGLHFSDQVEVFSPPGSDRASFIKNLQGISSFRRGTFTDCALAN     71 - 140
MTEQIRQDRSKGTVHFAVVITDGHVTGSPCGGIKLQAERAREEGIRLFAVAPNQNLKEQGLRDIASTPHE    141 - 210
LYRNDYATMLPDSTEIDQDTINRIIKVMKHEAYGECYKVSCLEIPGPSGPKGYRGQKGAKGNMGEPGEPG    211 - 280
QKGRQGDPGIEGPIGFPGPKGVPGFKGEKGEFGADGRKGAPGLAGKNGTDGQKGKLGRIGPPGCKGDPGN    281 - 350
RGPDGYPGEAGSPGERGDQGGKGDPGRPGRRGPPGEIGAKGSKGYQGNSGAPGSPGVKGAKGGPGPRGPK    351 - 420
GEPGRRGDPGTKGSPGSDGPKGEKGDPGPEGPRGLAGEVGNKGAKGDRGLPGPRGPQGALGEPGKQGSRG    421 - 490
DPGDAGPRGDSGQPGPKGDPGRPGFSYPGPRGAPGEKGEPGPRGPEGGRGDFGLKGEPGRKGEKGEPADP    491 - 560
GPPGEPGPRGPRGVPGPEGEPGPPGDPGLTECDVMTYVRETCGCCDCEKRCGALDVVFVIDSSESIGYTN    561 - 630
FTLEKNFVINVVNRLGAIAKDPKSETGTRVGVVQYSHEGTFEAIQLDDERIDSLSSFKEAVKNLEWIAGG    631 - 700
TWTPSALKFAYDRLIKESRRQKTRVFAVVITDGRHDPRDDDLNLRALCDRDVTVTAIGIGDMFHEKHESE    701 - 770
NLYSIACDKPQQVRNMTLFSDLVAEKFIDDMEDVLCPDPQIVCPDLPCQTELSVAQCTQRPVDIVFLLDG    771 - 840
SERLGEQNFHKARRFVEQVARRLTLARRDDDPLNARVALLQFGGPGEQQVAFPLSHNLTAIHEALETTQY    841 - 910
LNSFSHVGAGVVHAINAIVRSPRGGARRHAELSFVFLTDGVTGNDSLHESAHSMRKQNVVPTVLALGSDV    911 - 980
DMDVLTTLSLGDRAAVFHEKDYDSLAQPGFFDRFIRWIC                                   981 - 1019
//

Text Mined References (67)

PMID Year Title