Property Summary

Ligand Count 5
NCBI Gene PubMed Count 46
PubMed Score 45.30
PubTator Score 67.90

Knowledge Summary

Patent (1,312)

TINX Plot

  Disease (6)

Disease Target Count
Abnormality of the immune system 18
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Apneic episodes precipitated by illness, fatigue, stress 3
Arthrogryposis 54
Autosomal recessive predisposition 1442
Bell Palsy 58
Blepharoptosis 231
Bulbar palsy 19
Bulbar weakness 19
Byzanthine arch palate 194
Class III malocclusion 78
Congenital Myasthenic Syndromes, Postsynaptic 11
Decreased miniature endplate potentials (MEPP) 3
Decreased muscle mass 28
Decreased size of nerve terminals 4
Deglutition Disorders 132
Dysarthria 192
EMG: decrement at repetitive stimulation 4
EMG: decremental response of compound muscle action potential to repetitive nerve stimulation 4
Easy fatigability 18
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Feeding difficulties 127
Feeding difficulties in infancy 175
Generalized hypotonia 37
Generalized hypotonia due to defect at the neuromuscular junction 2
Gowers sign 24
Gowers sign present 24
Highly variable severity 157
Hypertrophy of lower jaw 78
Increased size of mandible 78
Infantile onset 238
Long face 71
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 4
Malocclusion 57
Mandibular hyperplasia 78
Motor delay 147
Muscle Cramp 55
Muscle hypotonia 571
Muscle weakness of limb 21
Myasthenias 8
Myasthenic syndrome, congenital, postsynaptic slow-channel 4
Neck muscle weakness 17
Neonatal Hypotonia 64
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
No development of motor milestones 147
Nonprogressive 12
Ophthalmoparesis 11
Ophthalmoplegia 106
Poor suck 17
Prenatal onset 139
Reduced fetal movement 51
Respiratory Insufficiency 132
Respiratory distress 43
Respiratory function loss 121
Respiratory insufficiency due to muscle weakness 37
Skeletal muscle atrophy 139
Strabismus 270
Sudden episodic apnea 2
Tires quickly 18
Type 2 fiber atrophy 8
Variable expressivity 157
Weak cry 17
mandibular excess (physical finding) 78
muscle degeneration 139
Disease Target Count Z-score Confidence
Congenital myasthenic syndrome 25 0.0 4.0

Expression

Protein-protein Interaction (2)

Gene RIF (24)

AA Sequence

MARAPLGVLLLLGLLGRGVGKNEELRLYHHLFNNYDPGSRPVREPEDTVTISLKVTLTNLISLNEKEETL      1 - 70
TTSVWIGIDWQDYRLNYSKDDFGGIETLRVPSELVWLPEIVLENNIDGQFGVAYDANVLVYEGGSVTWLP     71 - 140
PAIYRSVCAVEVTYFPFDWQNCSLIFRSQTYNAEEVEFTFAVDNDGKTINKIDIDTEAYTENGEWAIDFC    141 - 210
PGVIRRHHGGATDGPGETDVIYSLIIRRKPLFYVINIIVPCVLISGLVLLAYFLPAQAGGQKCTVSINVL    211 - 280
LAQTVFLFLIAQKIPETSLSVPLLGRFLIFVMVVATLIVMNCVIVLNVSQRTPTTHAMSPRLRHVLLELL    281 - 350
PRLLGSPPPPEAPRAASPPRRASSVGLLLRAEELILKKPRSELVFEGQRHRQGTWTAAFCQSLGAAAPEV    351 - 420
RCCVDAVNFVAESTRDQEATGEEVSDWVRMGNALDNICFWAALVLFSVGSSLIFLGAYFNRVPDLPYAPC    421 - 490
IQP                                                                       491 - 493
//

Text Mined References (48)

PMID Year Title