Property Summary

Ligand Count 18
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 1442
Bell Palsy 58
Blepharoptosis 231
Byzanthine arch palate 194
Cleft Palate 271
Congenital Epicanthus 177
Congenital Myasthenic Syndromes, Postsynaptic 11
Congenital anomaly of face 56
Congenital hypoplasia of lung 48
Contracture 96
Contracture of joint 93
Deglutition Disorders 132
Depressed nasal ridge 51
Distortion of face 46
Dysmorphic facies 46
Early severe fetal akinesia sequence 11
Easy fatigability 18
Edema 81
Facial Paresis 59
Facial muscle weakness of muscles innervated by CN VII 58
Feeding difficulties 127
Fetal Growth Retardation 189
Flexion contracture 93
Flexion contractures of joints 93
Funny looking face 46
Fused vertebrae 25
Generalized muscle weakness 57
Hypoplastic finger 17
Hypoplastic heart 3
Hypoplastic mandible condyle 275
Increased susceptibility to fractures 21
Infant, Small for Gestational Age 176
Infantile onset 238
Intrauterine retardation 176
Low set ears 181
Lymphangioma, Cystic 21
MYASTHENIC SYNDROME, CONGENITAL, 3C, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 1
Malignant hyperpyrexia due to anesthesia 10
Mandibular hypoplasia 275
Micrognathism 275
Multiple pterygia 4
Muscle hypotonia 571
Myasthenic syndrome, congenital, postsynaptic slow-channel 4
Neck muscle weakness 17
Neonatal Hypotonia 64
Ophthalmoplegia 106
Orbital separation excessive 244
Paralysed 42
Pena-Shokeir syndrome type I 12
Polyhydramnios 108
Prenatal onset 139
Progressive disorder 142
Respiratory Insufficiency 132
Respiratory function loss 121
Short finger 17
Spinal fusion 25
Thin rib 21
Tires quickly 18
Uranostaphyloschisis 167
Vertebral body fusion 25
facial deformity 46
Disease Target Count P-value
acute quadriplegic myopathy 1158 2.8e-07
Disease Target Count Z-score Confidence
Carcinoma 11493 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

Synonym

Accession Q07001 A8K661 B4DT92 Q52LH4
Symbols ACHRD
CMS2A
CMS3A
CMS3B
CMS3C
FCCMS
SCCMS

Gene

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