Property Summary

NCBI Gene PubMed Count 33
PubMed Score 18.91
PubTator Score 11.95

Knowledge Summary

Patent (853)

TINX Plot

  Disease (10)

Disease Target Count
Abnormal cervical curvature 3
Akinesia 13
Aplasia of muscle 3
Autosomal recessive predisposition 1407
Bell Palsy 57
Blepharoptosis 229
Byzanthine arch palate 194
Cleft Palate 265
Congenital Epicanthus 175
Congenital Myasthenic Syndromes, Postsynaptic 11
Congenital anomaly of face 54
Congenital hypoplasia of lung 47
Contracture 95
Contracture of joint 92
Deglutition Disorders 128
Depressed nasal ridge 48
Distortion of face 44
Dysmorphic facies 44
Early severe fetal akinesia sequence 11
Easy fatigability 18
Edema 80
Facial Paresis 58
Facial muscle weakness of muscles innervated by CN VII 57
Feeding difficulties 127
Fetal Growth Retardation 186
Flexion contracture 92
Flexion contractures of joints 92
Funny looking face 44
Fused vertebrae 24
Generalized muscle weakness 57
Hypoplastic finger 17
Hypoplastic heart 3
Hypoplastic mandible condyle 273
Increased susceptibility to fractures 21
Infant, Small for Gestational Age 174
Infantile onset 236
Intrauterine retardation 174
Low set ears 178
Lymphangioma, Cystic 21
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 1
Malignant hyperpyrexia due to anesthesia 10
Mandibular hypoplasia 273
Micrognathism 273
Multiple pterygia 4
Muscle hypotonia 562
Myasthenic syndrome, congenital, postsynaptic slow-channel 4
Neck muscle weakness 17
Neonatal Hypotonia 64
Ophthalmoplegia 105
Orbital separation excessive 240
Paralysed 40
Pena-Shokeir syndrome type I 12
Polyhydramnios 106
Prenatal onset 137
Progressive disorder 139
Respiratory Insufficiency 130
Respiratory function loss 119
Short finger 17
Spinal fusion 24
Thin rib 21
Tires quickly 18
Uranostaphyloschisis 162
Vertebral body fusion 24
facial deformity 44
Disease Target Count P-value
acute quadriplegic myopathy 1133 2.8e-07
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.7
Disease Target Count Z-score Confidence
Refractive error 50 0.0 3.0
Disease Target Count Z-score Confidence
Multiple pterygium syndrome 18 5.93 3.0
Disease Target Count Z-score Confidence
Congenital myasthenic syndrome 25 0.0 4.0

Expression

  Differential Expression (1)

Disease log2 FC p
acute quadriplegic myopathy 1.697 2.8e-07

Gene RIF (15)

AA Sequence

MEGPVLTLGLLAALAVCGSWGLNEEERLIRHLFQEKGYNKELRPVAHKEESVDVALALTLSNLISLKEVE      1 - 70
ETLTTNVWIEHGWTDNRLKWNAEEFGNISVLRLPPDMVWLPEIVLENNNDGSFQISYSCNVLVYHYGFVY     71 - 140
WLPPAIFRSSCPISVTYFPFDWQNCSLKFSSLKYTAKEITLSLKQDAKENRTYPVEWIIIDPEGFTENGE    141 - 210
WEIVHRPARVNVDPRAPLDSPSRQDITFYLIIRRKPLFYIINILVPCVLISFMVNLVFYLPADSGEKTSV    211 - 280
AISVLLAQSVFLLLISKRLPATSMAIPLIGKFLLFGMVLVTMVVVICVIVLNIHFRTPSTHVLSEGVKKL    281 - 350
FLETLPELLHMSRPAEDGPSPGALVRRSSSLGYISKAEEYFLLKSRSDLMFEKQSERHGLARRLTTARRP    351 - 420
PASSEQAQQELFNELKPAVDGANFIVNHMRDQNNYNEEKDSWNRVARTVDRLCLFVVTPVMVVGTAWIFL    421 - 490
QGVYNQPPPQPFPGDPYSYNVQDKRFI                                               491 - 517
//

Text Mined References (37)

PMID Year Title