Property Summary

NCBI Gene PubMed Count 39
PubMed Score 132.14
PubTator Score 126.61

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormality of pelvic girdle bone morphology 37
Abnormality of the abdomen 14
Absence of septum pellucidum 13
Absent palmar crease 3
Acquired scoliosis 281
Akinesia 13
Ankylosis of the elbow joint 7
Arthrogryposis 54
Autosomal recessive predisposition 1442
Blepharophimosis 70
Blepharoptosis 231
Byzanthine arch palate 194
Cerebellar Hypoplasia 61
Cleft Palate 271
Concave bridge of nose 195
Congenital Myasthenic Syndromes, Postsynaptic 11
Congenital clubfoot 109
Congenital hypoplasia of lung 48
Cryptorchidism 296
Curvature of spine 282
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressed nasal tip 11
Early severe fetal akinesia sequence 11
Easy fatigability 18
Exophthalmos 112
Feeding difficulties 127
Fetal Growth Retardation 189
Flexion contracture of proximal interphalangeal joint 75
Generalized amyotrophy 20
Gowers sign 24
Gowers sign present 24
High, narrow palate 32
Hydrocephalus 152
Hypokinesia 19
Hypoplastic mandible condyle 275
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Long face 71
Long philtrum 137
Low Birth Weights 69
Lymphangioma, Cystic 21
MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE 5
MYASTHENIC SYNDROME, CONGENITAL, 11, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 1
MYASTHENIC SYNDROME, CONGENITAL, ASSOCIATED WITH ACETYLCHOLINE RECEPTOR DEFICIENCY 4
Mandibular hypoplasia 275
Micrognathism 275
Microstomia 78
Muscle hypotonia 571
Myopathy 185
Neonatal Hypotonia 64
Orbital separation excessive 244
Pena-Shokeir syndrome type I 12
Persistent cavum septum pellucidum 10
Polyhydramnios 108
Posteriorly rotated ear 61
Premature Birth 77
Premature birth of newborn 67
Prenatal onset 139
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Reduced fetal movement 51
Respiratory Insufficiency 132
Respiratory function loss 121
Short cord 5
Short neck 140
Short palpebral fissure 38
Slender, gracile long tubular bones 21
Small for gestational age (disorder) 69
Small placenta 4
Somnolence 15
Telecanthus 62
Thin rib 21
Thoracic hypoplasia 14
Tires quickly 18
Ulnar deviation of hand 9
Uranostaphyloschisis 167
Vertical Talus 25
Disease Target Count P-value
medulloblastoma, large-cell 6241 2.5e-02
Disease Target Count Z-score Confidence
Multiple pterygium syndrome 18 5.012 2.5
Disease Target Count Z-score Confidence
Congenital myasthenic syndrome 25 0.0 4.0

Expression

  Differential Expression (1)

Disease log2 FC p
medulloblastoma, large-cell 1.400 2.5e-02

Gene RIF (17)

AA Sequence

MGQDQTKQQIEKGLQLYQSNQTEKALQVWTKVLEKSSDLMGRFRVLGCLVTAHSEMGRYKEMLKFAVVQI      1 - 70
DTARELEDADFLLESYLNLARSNEKLCEFHKTISYCKTCLGLPGTRAGAQLGGQVSLSMGNAFLGLSVFQ     71 - 140
KALESFEKALRYAHNNDDAMLECRVCCSLGSFYAQVKDYEKALFFPCKAAELVNNYGKGWSLKYRAMSQY    141 - 210
HMAVAYRLLGRLGSAMECCEESMKIALQHGDRPLQALCLLCFADIHRSRGDLETAFPRYDSAMSIMTEIG    211 - 280
NRLGQVQALLGVAKCWVARKALDKALDAIERAQDLAEEVGNKLSQLKLHCLSESIYRSKGLQRELRAHVV    281 - 350
RFHECVEETELYCGLCGESIGEKNSRLQALPCSHIFHLRCLQNNGTRSCPNCRRSSMKPGFV            351 - 412
//

Text Mined References (41)

PMID Year Title