Property Summary

NCBI Gene PubMed Count 87
PubMed Score 291.37
PubTator Score 150.76

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Absent reflex 92
Absent tendon reflex 92
Acquired scoliosis 281
Adult onset 82
Back Pain 7
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Conduction disorder of the heart 79
Contracture 96
Contracture of joint 93
Creatine phosphokinase serum increased 110
Curvature of spine 282
Decreased tendon reflex 122
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Elevated creatine kinase 110
Flexion contracture 93
Flexion contractures of joints 93
Foot dorsiflexor weakness 27
Foot-drop 27
Frequent falls 12
Gait, Drop Foot 24
Hyperkyphosis 111
Hypertrophic Cardiomyopathy 117
Kyphosis deformity of spine 114
Lordosis 54
MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder) 1
Monoparesis - leg 27
Myofibrillar Myopathy 9
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Progressive disorder 142
Proximal muscle weakness 47
Proximal neurogenic muscle weakness 47
REDUCING BODY MYOPATHY, X-LINKED 1A, SEVERE, WITH INFANTILE OR EARLY CHILDHOOD ONSET 1
REDUCING BODY MYOPATHY, X-LINKED 1B, WITH LATE CHILDHOOD OR ADULT ONSET 1
Rapidly progressive 27
Rapidly progressive disorder 27
Reducing-body myopathy 1
Reflex, Deep Tendon, Absent 92
Respiratory Insufficiency 132
Respiratory function loss 121
Respiratory insufficiency due to muscle weakness 37
Rimmed vacuoles on biopsy 15
Scapular weakness 23
Scapuloperoneal myopathy 6
Scapuloperoneal weakness 3
Short neck 140
Skeletal muscle atrophy 139
Spinal rigidity 13
Variation in muscle fiber size 16
Waddling gait 34
Weakness of lower limb 27
Winged scapula 23
X- linked recessive 110
X-Linked Emery-Dreifuss Muscular Dystrophy 3
X-linked dominant 57
muscle degeneration 139
Disease Target Count Z-score Confidence
Emery-Dreifuss muscular dystrophy 23 0.0 4.0
Disease Target Count Z-score Confidence
Myopathy 185 3.757 1.9
Heart disease 306 3.29 1.6

Expression

  Differential Expression (34)

Disease log2 FC p
active Crohn's disease -2.051 9.6e-03
active ulcerative colitis -2.376 3.3e-02
adrenocortical carcinoma -1.399 1.8e-03
astrocytic glioma 2.400 1.1e-03
Atopic dermatitis -2.400 7.6e-04
Breast cancer -3.900 2.7e-02
breast carcinoma -2.400 8.6e-04
chronic kidney disease 1.600 1.7e-02
colon cancer -1.900 1.3e-02
COPD -1.200 3.1e-03
cystic fibrosis -2.042 1.8e-05
dermatomyositis -1.900 2.0e-03
Down syndrome 1.100 2.1e-02
ductal carcinoma in situ -3.700 3.3e-04
ependymoma 3.000 2.3e-03
fibroadenoma -3.400 1.8e-03
group 4 medulloblastoma 1.300 4.1e-02
head and neck cancer -1.600 3.8e-02
intraductal papillary-mucinous adenoma (... -2.600 3.5e-04
intraductal papillary-mucinous carcinoma... -3.400 1.9e-04
intraductal papillary-mucinous neoplasm ... -3.500 5.4e-04
invasive ductal carcinoma -1.940 7.2e-04
lung adenocarcinoma -2.600 2.6e-17
lung cancer -1.500 9.0e-03
lung carcinoma -3.000 1.5e-26
malignant mesothelioma 3.400 4.1e-07
non primary Sjogren syndrome sicca 1.500 1.1e-02
non-small cell lung cancer -3.084 1.8e-27
oligodendroglioma 2.700 4.5e-04
ovarian cancer -3.800 4.7e-11
pancreatic ductal adenocarcinoma liver m... -1.044 2.5e-02
pediatric high grade glioma 1.300 4.1e-02
psoriasis -1.200 1.7e-05
subependymal giant cell astrocytoma -1.836 3.3e-02

 IMPC Phenotype (1)

Gene RIF (62)

AA Sequence

MAEKFDCHYCRDPLQGKKYVQKDGHHCCLKCFDKFCANTCVECRKPIGADSKEVHYKNRFWHDTCFRCAK      1 - 70
CLHPLANETFVAKDNKILCNKCTTREDSPKCKGCFKAIVAGDQNVEYKGTVWHKDCFTCSNCKQVIGTGS     71 - 140
FFPKGEDFYCVTCHETKFAKHCVKCNKAITSGGITYQDQPWHADCFVCVTCSKKLAGQRFTAVEDQYYCV    141 - 210
DCYKNFVAKKCAGCKNPITGKRTVSRVSHPVSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWV    211 - 280
VVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAKNAP                               281 - 323
//

Text Mined References (88)

PMID Year Title