Property Summary

NCBI Gene PubMed Count 211
PubMed Score 541.52
PubTator Score 726.30

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Myopathy 185
Absent reflex 92
Absent tendon reflex 92
Acquired scoliosis 281
Actin-Accumulation Myopathy 1
Arthrogryposis 54
Autophagic vaculoes (finding) 3
Autosomal recessive predisposition 1442
Axial muscle weakness 6
Bell Palsy 58
Blepharoptosis 231
Bulbar palsy 19
Bulbar weakness 19
Byzanthine arch palate 194
Cardiomyopathy, Dilated 83
Centrally nucleated skeletal muscle fibers 10
Cervical Dystonia 26
Cognitive delay 608
Congenital Fiber Type Disproportion 7
Congenital pes cavus 88
Creatine phosphokinase serum increased 110
Curvature of spine 282
Decreased tendon reflex 122
Decreased to absent deep tendon reflexes 42
Deglutition Disorders 132
Difficulty walking up stairs 12
Distal limb muscle weakness due to peripheral neuropathy 62
Distal muscle weakness 62
EMG: myopathic abnormalities 22
EMG: neuropathic changes 15
Eichsfeld type congenital muscular dystrophy 4
Elevated creatine kinase 110
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
Frequent falls 12
Generalized muscle weakness 57
Global developmental delay 608
Gowers sign 24
Gowers sign present 24
Handgrip myotonia 3
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Highly variable severity 157
Late-onset distal muscle weakness 3
Left Ventricular Hypertrophy 47
Long face 71
Lordosis 54
Lumbar lordosis 35
Mask-like facies 25
Mental and motor retardation 608
Mildly increased creatine kinase 20
Motor delay 147
Muscle fiber necrosis 6
Muscle fiber splitting 7
Muscle hypotonia 571
Muscle weakness of limb 21
Muscular Dystrophies, Limb-Girdle 7
Myofibrillar Myopathy 9
Myopathic facies 13
Narrow face 54
Neck flexor weakness 6
Neck muscle weakness 17
Nemaline Myopathy, Childhood Onset 6
Nemaline rods 7
Neonatal Hypotonia 64
No development of motor milestones 147
Pectus excavatum 100
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
Respiratory Insufficiency 132
Respiratory function loss 121
Respiratory insufficiency due to muscle weakness 37
Retrognathia 54
Rimmed vacuoles on biopsy 15
Slender build 14
Spasmodic torticollis 17
Spinal rigidity 13
Thin face 54
Torticollis 18
Type 1 fibers relatively smaller than type 2 fibers 5
Type 1 muscle fiber predominance 10
Variable expressivity 157
Waddling gait 34
Weak cry 17
Disease Target Count P-value
psoriasis 6694 1.0e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Congenital fiber-type disproportion 8 0.0 5.0
Disease Target Count Z-score Confidence
Nemaline myopathy 17 0.0 4.0

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis -1.400 1.0e-02

Gene RIF (134)

AA Sequence

MCDEDETTALVCDNGSGLVKAGFAGDDAPRAVFPSIVGRPRHQGVMVGMGQKDSYVGDEAQSKRGILTLK      1 - 70
YPIEHGIITNWDDMEKIWHHTFYNELRVAPEEHPTLLTEAPLNPKANREKMTQIMFETFNVPAMYVAIQA     71 - 140
VLSLYASGRTTGIVLDSGDGVTHNVPIYEGYALPHAIMRLDLAGRDLTDYLMKILTERGYSFVTTAEREI    141 - 210
VRDIKEKLCYVALDFENEMATAASSSSLEKSYELPDGQVITIGNERFRCPETLFQPSFIGMESAGIHETT    211 - 280
YNSIMKCDIDIRKDLYANNVMSGGTTMYPGIADRMQKEITALAPSTMKIKIIAPPERKYSVWIGGSILAS    281 - 350
LSTFQQMWITKQEYDEAGPSIVHRKCF                                               351 - 377
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Text Mined References (220)

PMID Year Title