Property Summary

NCBI Gene PubMed Count 73
PubMed Score 225.40
PubTator Score 89.56

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Myopathy 185
ARTHROGRYPOSIS, DISTAL, TYPE 1 6
Abnormality of the hip bone 16
Absent interphalangeal creases 5
Acquired scoliosis 281
Adducted thumb 22
Aplasia of the interphalangeal creases 5
Arthrogryposis 54
Autosomal recessive predisposition 1442
Bell Palsy 58
Bilateral single transverse palmar creases 34
Blepharoptosis 231
Broad flat nasal bridge 236
Bulbar palsy 19
Bulbar weakness 19
Byzanthine arch palate 194
Calcaneovalgus deformity 8
Cap Myopathy 2
Cardiomyopathy, Dilated 83
Centrally nucleated skeletal muscle fibers 10
Childhood onset 38
Class III malocclusion 78
Congenital Camptodactyly 40
Congenital Fiber Type Disproportion 7
Congenital clubfoot 109
Congenital ear anomaly NOS (disorder) 29
Contracture 96
Contracture of joint 93
Curvature of spine 282
Decreased tendon reflex 122
Decreased to absent deep tendon reflexes 42
Decreased vital capacity 2
Defect of vertebral segmentation 17
Deglutition Disorders 132
Difficulty walking 28
Distal arthrogryposis syndrome 8
Downward slant of palpebral fissure 158
Facial Paresis 59
Facial diplegia 10
Facial muscle weakness of muscles innervated by CN VII 58
Failure to gain weight 365
Feeding difficulties 127
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 muscle weakness 57
Gowers sign 24
Gowers sign present 24
Highly variable severity 157
Hypertrophy of lower jaw 78
Hypoplastic mandible condyle 275
Increased size of mandible 78
Joint stiffness 84
Kyphoscoliosis deformity of spine 60
Long face 71
Long philtrum 137
Lumbar lordosis 35
Mandibular hyperplasia 78
Mandibular hypoplasia 275
Metatarsus Varus 24
Micrognathism 275
Microstomia 78
Motor delay 147
Muscle hypotonia 571
Muscle weakness of limb 21
Myopathic facies 13
Narrow face 54
Nasal bridge wide 236
Neck muscle weakness 17
Neck webbing 35
Nemaline Myopathy, Childhood Onset 6
Nemaline myopathy 1 2
Nemaline rods 7
Neonatal Hypotonia 64
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
No development of motor milestones 147
Overlapping fingers 10
Pectus excavatum 100
Pediatric failure to thrive 365
Prenatal onset 139
Prominent ear 56
Prominent nasolabial folds 5
Protruding ears 56
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
Radial aplasia/hypoplasia 29
Recurrent respiratory infections 141
Reduced fetal movement 51
Reduced vital capacity 2
Respiratory Insufficiency 132
Respiratory function loss 121
Respiratory insufficiency due to muscle weakness 37
Round ear 4
Scapular weakness 23
Short neck 140
Short stature 531
Skeletal muscle atrophy 139
Squamous cell carcinoma of esophagus 77
Talipes 20
Talipes foot deformities 20
Tarsal Coalition 12
Thin face 54
Toeing-in 24
Triangular face 58
Type 1 fibers relatively smaller than type 2 fibers 5
Type 1 muscle fiber predominance 10
Ulnar deviation of the fingers 21
Ulnar deviation of the hand or of fingers of the hand 4
Ulnar deviation of the wrist 8
Variable expressivity 157
Vertical Talus 25
Waddling gait 34
Weak cry 17
Winged scapula 23
mandibular excess (physical finding) 78
muscle degeneration 139
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Distal arthrogryposis 42 6.467 3.2
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 (13)

Disease log2 FC p
acute quadriplegic myopathy -1.789 1.3e-08
atypical teratoid / rhabdoid tumor 1.900 1.5e-02
Breast cancer -2.100 1.1e-11
breast carcinoma -1.400 1.5e-17
colon cancer -1.700 1.3e-08
glioblastoma 1.200 1.2e-02
group 4 medulloblastoma -1.300 5.7e-03
invasive ductal carcinoma -1.500 2.6e-02
lung cancer 1.300 9.4e-03
ovarian cancer -3.400 6.5e-08
pancreatic cancer 1.300 6.7e-03
pancreatic ductal adenocarcinoma liver m... 2.528 1.1e-03
psoriasis -2.200 2.4e-05

Gene RIF (45)

AA Sequence

MDAIKKKMQMLKLDKENAIDRAEQAEADKKQAEDRCKQLEEEQQALQKKLKGTEDEVEKYSESVKEAQEK      1 - 70
LEQAEKKATDAEADVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRAMKDEEK     71 - 140
MELQEMQLKEAKHIAEDSDRKYEEVARKLVILEGELERSEERAEVAESKCGDLEEELKIVTNNLKSLEAQ    141 - 210
ADKYSTKEDKYEEEIKLLEEKLKEAETRAEFAERSVAKLEKTIDDLEDEVYAQKMKYKAISEELDNALND    211 - 280
ITSL                                                                      281 - 284
//

Text Mined References (73)

PMID Year Title