Property Summary

Ligand Count 23
NCBI Gene PubMed Count 62
PubMed Score 41.70
PubTator Score 99.37

Knowledge Summary

Patent (1,806)

TINX Plot

  Disease (9)

Disease Target Count
Abnormal cervical curvature 3
Acquired scoliosis 281
Akinesia 13
Aplasia of muscle 3
Arthrogryposis 54
Autosomal recessive predisposition 1442
Bell Palsy 58
Blepharoptosis 231
Bulbar palsy 19
Bulbar weakness 19
Byzanthine arch palate 194
Cleft Palate 271
Congenital Epicanthus 177
Congenital Myasthenic Syndromes, Postsynaptic 11
Congenital anomaly of face 56
Congenital hypoplasia of lung 48
Contracture 96
Contracture of joint 93
Curvature of spine 282
Decreased miniature endplate potentials (MEPP) 3
Decreased size of nerve terminals 4
Deglutition Disorders 132
Depressed nasal ridge 51
Distortion of face 46
Dysarthria 192
Dysmorphic facies 46
Early severe fetal akinesia sequence 11
Easy fatigability 18
Edema 81
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Feeding difficulties 127
Fetal Growth Retardation 189
Flexion contracture 93
Flexion contractures of joints 93
Funny looking face 46
Fused vertebrae 25
Generalized muscle weakness 57
Gowers sign 24
Gowers sign present 24
Highly variable severity 157
Hypoplastic finger 17
Hypoplastic heart 3
Hypoplastic mandible condyle 275
Increased susceptibility to fractures 21
Infant, Small for Gestational Age 176
Infantile onset 238
Intermittent episodes of respiratory insufficiency due to muscle weakness 1
Intrauterine retardation 176
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Low set ears 181
Lymphangioma, Cystic 21
MYASTHENIC SYNDROME, CONGENITAL, 1B, FAST-CHANNEL 1
Macrotia 87
Malignant hyperpyrexia due to anesthesia 10
Mandibular hypoplasia 275
Micrognathism 275
Motor delay 147
Multiple pterygia 4
Myasthenias 8
Neck muscle weakness 17
Neonatal Hypotonia 64
No development of motor milestones 147
Ophthalmoparesis 11
Ophthalmoplegia 106
Orbital separation excessive 244
Pena-Shokeir syndrome type I 12
Polyhydramnios 108
Poor suck 17
Prolonged miniature endplate currents (MEPC) 2
Respiratory insufficiency due to muscle weakness 37
Short finger 17
Spinal fusion 25
Thin rib 21
Tires quickly 18
Type 2 fiber atrophy 8
Uranostaphyloschisis 167
Variable expressivity 157
Vertebral body fusion 25
Weak cry 17
facial deformity 46
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Multiple pterygium syndrome 18 5.358 2.7
Disease Target Count Z-score Confidence
Congenital myasthenic syndrome 25 0.0 4.0
Disease Target Count Z-score Confidence
Neuropathy 261 4.502 2.3
Cystic lymphangioma 19 3.491 1.7
Nicotine dependence 54 3.117 1.6

Expression

  Differential Expression (14)

Gene RIF (35)

AA Sequence

MEPWPLLLLFSLCSAGLVLGSEHETRLVAKLFKDYSSVVRPVEDHRQVVEVTVGLQLIQLINVDEVNQIV      1 - 70
TTNVRLKQGDMVDLPRPSCVTLGVPLFSHLQNEQWVDYNLKWNPDDYGGVKKIHIPSEKIWRPDLVLYNN     71 - 140
ADGDFAIVKFTKVLLQYTGHITWTPPAIFKSYCEIIVTHFPFDEQNCSMKLGTWTYDGSVVAINPESDQP    141 - 210
DLSNFMESGEWVIKESRGWKHSVTYSCCPDTPYLDITYHFVMQRLPLYFIVNVIIPCLLFSFLTGLVFYL    211 - 280
PTDSGEKMTLSISVLLSLTVFLLVIVELIPSTSSAVPLIGKYMLFTMVFVIASIIITVIVINTHHRSPST    281 - 350
HVMPNWVRKVFIDTIPNIMFFSTMKRPSREKQDKKIFTEDIDISDISGKPGPPPMGFHSPLIKHPEVKSA    351 - 420
IEGIKYIAETMKSDQESNNAAAEWKYVAMVMDHILLGVFMLVCIIGTLAVFAGRLIELNQQG            421 - 482
//

Text Mined References (66)

PMID Year Title