Property Summary

NCBI Gene PubMed Count 22
PubMed Score 204.28
PubTator Score 74.27

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Acquired cubitus valgus 18
Acquired flat foot 70
Acquired scoliosis 274
Advanced bone age 34
Amblyopia 38
Aortic Valve Insufficiency 39
Aortic root dilatation 11
Aortic valve stenosis 27
Arthralgia 85
Arthropathy 38
Autosomal recessive predisposition 1407
Barrel chest 12
Bicuspid aortic valve 16
Bilateral single transverse palmar creases 34
Bowed and upward slanting eyebrows 39
Brachycephaly 86
Brachydactyly 154
Broad chest 8
Broad cranium shape 86
Broad distal phalanges of all fingers 2
Broad forehead 58
Bulging forehead 64
Bushy eyebrows 48
Byzanthine arch palate 194
Cardiomegaly 114
Cleft Palate 265
Concave bridge of nose 191
Congenital clubfoot 108
Congenital deafness 180
Congenital small ears 46
Coronal cleft vertebrae 7
Curvature of spine 275
Cutis Laxa 39
Deafness 193
Decreased hip abduction 3
Decreased size of teeth 62
Decreased width of tooth 59
Delayed bone age 132
Depressed nasal bridge 191
Depressed nasal root/bridge 191
Deviation of the 5th finger 2
Downward slant of palpebral fissure 158
Elbow dislocation, bilateral 2
Enlarged metaphyses 2
Equinovalgus deformity 4
Esotropia 31
Fixed elbow flexion 1
Flat epiphyses 6
Flatfoot 71
Flexion contracture - elbow 30
Flexion contracture of proximal interphalangeal joint 74
Foramen Ovale, Patent 10
Frontal bossing 154
Generalized bone demineralization 1
Generalized elastolysis 24
Generalized osteopenia 94
Globe of eye large 19
Gross motor development delay 21
Hanging skin 24
Hearing Loss, Partial 180
Hydrocephalus 148
Hydrophthalmos 19
Hyperopia 68
Idiopathic pulmonary arterial hypertension 40
Increased size of palpebral fissures 8
Irregular vertebral endplates 16
Joint laxity 52
Knee joint valgus deformity 54
Kyphoscoliosis deformity of spine 59
Large eyes 8
Late tooth eruption 59
Left Ventricular Hypertrophy 46
Limited hip extension 4
Long philtrum 137
Low posterior hairline 52
Low set ears 178
Lumbar lordosis 35
Metatarsus Varus 24
Microdontia (disorder) 59
Microstomia 76
Mitral Valve Prolapse Syndrome 38
Mitral regurgitation, mild 31
Mitral valve insufficiency 48
Mitral valve stenosis 14
Multiple carpal ossification centers 2
Narrow interpedicular space 4
Narrow thorax 53
Narrowing of intervertebral disc space 3
Orbital separation excessive 240
Osteopenia 94
Prominent forehead 64
Pulmonary Stenosis 44
Pulmonary hypertension 85
Radioulnar synostosis 35
Rhizomelia 24
Shield chest 8
Short distal phalanges 49
Short femoral neck 14
Short metacarpal 42
Short neck 139
Short phalanx of finger 31
Short stature 514
Short ulnae 24
Small capital femoral epiphyses 10
Small epiphyses 8
Small face 10
Sparse eyebrow 40
Spatulate thumbs 3
Spondyloepiphyseal Dysplasia 7
Spondyloepiphyseal dysplasia, Omani type 1
Talipes Equinovalgus 4
Thick, flared eyebrows 39
Tibial bowing 17
Toeing-in 24
Tricuspid valve insufficiency 14
Tricuspid valve stenosis 6
ULNAR HYPOPLASIA 24
Ulnar bowing 9
Uranostaphyloschisis 162
Ventricular Septal Defects 113
Ventricular hypertrophy 6
Waddling gait 33
Wide skull shape 86
Wide spaced nipples 46
Widely spaced teeth 31
hearing impairment 194
pulmonary arterial hypertension 76
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.7

Expression

  Differential Expression (9)

Disease log2 FC p
astrocytoma 1.600 1.1e-03
Astrocytoma, Pilocytic 2.100 4.3e-10
atypical teratoid / rhabdoid tumor 1.200 9.2e-03
Breast cancer -1.200 4.6e-06
ependymoma 1.400 2.7e-11
gastric carcinoma -1.300 2.9e-02
glioblastoma 1.100 4.3e-05
invasive ductal carcinoma -1.600 4.2e-03
pediatric high grade glioma 1.500 2.0e-07

Gene RIF (14)

AA Sequence

MEKGLTLPQDCRDFVHSLKMRSKYALFLVFVVIVFVFIEKENKIISRVSDKLKQIPQALADANSTDPALI      1 - 70
LAENASLLSLSELDSAFSQLQSRLRNLSLQLGVEPAMEAAGEEEEEQRKEEEPPRPAVAGPRRHVLLMAT     71 - 140
TRTGSSFVGEFFNQQGNIFYLFEPLWHIERTVSFEPGGANAAGSALVYRDVLKQLFLCDLYVLEHFITPL    141 - 210
PEDHLTQFMFRRGSSRSLCEDPVCTPFVKKVFEKYHCKNRRCGPLNVTLAAEACRRKEHMALKAVRIRQL    211 - 280
EFLQPLAEDPRLDLRVIQLVRDPRAVLASRMVAFAGKYKTWKKWLDDEGQDGLREEEVQRLRGNCESIRL    281 - 350
SAELGLRQPAWLRGRYMLVRYEDVARGPLQKAREMYRFAGIPLTPQVEDWIQKNTQAAHDGSGIYSTQKN    351 - 420
SSEQFEKWRFSMPFKLAQVVQAACGPAMRLFGYKLARDAAALTNRSVSLLEERGTFWVT               421 - 479
//

Text Mined References (21)

PMID Year Title