Property Summary

NCBI Gene PubMed Count 109
PubMed Score 184.08
PubTator Score 456.47

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Acquired scoliosis 281
Animal Mammary Neoplasms 136
Autosomal recessive predisposition 1442
Bell Palsy 58
Blepharoptosis 231
Bulbar palsy 19
Bulbar weakness 19
Byzanthine arch palate 194
Cap Myopathy 2
Cardiomyopathy, Dilated 83
Centrally nucleated skeletal muscle fibers 10
Congenital Fiber Type Disproportion 7
Congenital pes cavus 88
Contracture 96
Contracture of joint 93
Curvature of spine 282
Decreased to absent deep tendon reflexes 42
Deglutition Disorders 132
Distal lower limb muscle weakness 6
EMG: myopathic abnormalities 22
Facial Paresis 59
Facial diplegia 10
Facial muscle weakness of muscles innervated by CN VII 58
Failure to gain weight 365
Feeding difficulties 127
Flexion contracture 93
Flexion contractures of joints 93
Generalized muscle weakness 57
Highly variable severity 157
Inflammatory myofibroblastic tumor 8
Long face 71
Lower limb atrophy 8
Lower limb muscle hypotrophy 8
Lumbar lordosis 35
Motor delay 147
Muscle atrophy, lower limb, distal 8
Muscle hypotonia 571
Myopathy 185
Narrow face 54
Neck muscle weakness 17
Nemaline Myopathy, Childhood Onset 6
Nemaline myopathy 4 2
Nemaline rods 7
Neonatal Hypotonia 64
No development of motor milestones 147
Pectus excavatum 100
Pediatric failure to thrive 365
Prenatal onset 139
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
Recurrent respiratory infections 141
Reduced fetal movement 51
Respiratory Insufficiency 132
Respiratory function loss 121
Respiratory insufficiency due to muscle weakness 37
Shoulder girdle muscle atrophy 6
Thin face 54
Thyroid Neoplasm 37
Type 1 fibers relatively smaller than type 2 fibers 5
Variable expressivity 157
Weak cry 17
Disease Target Count Z-score Confidence
Congenital fiber-type disproportion 8 0.0 5.0
Disease Target Count Z-score Confidence
Nemaline myopathy 17 6.789 3.4
Cancer 2499 3.517 1.8

Expression

  Differential Expression (17)

Disease log2 FC p
adult high grade glioma -3.500 1.5e-07
astrocytic glioma -3.300 1.3e-03
Astrocytoma, Pilocytic -3.000 2.6e-11
atypical teratoid / rhabdoid tumor -3.400 4.4e-12
Breast cancer 1.400 1.1e-06
ependymoma -4.100 2.2e-03
glioblastoma -2.600 4.5e-09
group 3 medulloblastoma -1.900 2.2e-03
hepatocellular carcinoma -1.100 9.9e-05
intraductal papillary-mucinous neoplasm ... 1.200 1.1e-02
invasive ductal carcinoma 1.100 2.8e-02
medulloblastoma, large-cell -3.500 3.4e-07
oligodendroglioma -3.200 3.6e-03
osteosarcoma -2.081 3.7e-06
primitive neuroectodermal tumor -2.500 1.1e-04
subependymal giant cell astrocytoma -2.528 2.0e-02
tuberculosis and treatment for 6 months 1.400 1.4e-03

 GWAS Trait (1)

Protein-protein Interaction (5)

Gene RIF (37)

AA Sequence

MMEAIKKKMQMLKLDKENALDRAEQAEAEQKQAEERSKQLEDELAAMQKKLKGTEDELDKYSEALKDAQE      1 - 70
KLELAEKKAADAEAEVASLNRRIQLVEEELDRAQERLATALQKLEEAEKAADESERGMKVIENRALKDEE     71 - 140
KMELQEIQLKEAKHIAEEADRKYEEVARKLVIIEGDLERTEERAELAESKCSELEEELKNVTNNLKSLEA    141 - 210
QAEKYSQKEDKYEEEIKILTDKLKEAETRAEFAERSVAKLEKTIDDLEDELYAQKLKYKAISEELDHALN    211 - 280
DMTSI                                                                     281 - 285
//

Text Mined References (116)

PMID Year Title