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 72
Acquired scoliosis 281
Advanced bone age 35
Amblyopia 38
Aortic Valve Insufficiency 40
Aortic root dilatation 11
Aortic valve stenosis 28
Arthralgia 90
Arthropathy 43
Autosomal recessive predisposition 1442
Barrel chest 12
Bicuspid aortic valve 16
Bilateral single transverse palmar creases 34
Bowed and upward slanting eyebrows 41
Brachycephaly 88
Brachydactyly 156
Broad chest 8
Broad cranium shape 88
Broad distal phalanges of all fingers 2
Broad forehead 59
Bulging forehead 66
Bushy eyebrows 49
Byzanthine arch palate 194
Cardiomegaly 116
Cleft Palate 271
Concave bridge of nose 195
Congenital clubfoot 109
Congenital deafness 185
Congenital small ears 48
Coronal cleft vertebrae 8
Curvature of spine 282
Cutis Laxa 39
Deafness 198
Decreased hip abduction 3
Decreased size of teeth 62
Decreased width of tooth 59
Delayed bone age 136
Depressed nasal bridge 195
Depressed nasal root/bridge 195
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 7
Flatfoot 73
Flexion contracture - elbow 32
Flexion contracture of proximal interphalangeal joint 75
Foramen Ovale, Patent 10
Frontal bossing 157
Generalized bone demineralization 1
Generalized elastolysis 24
Generalized osteopenia 99
Globe of eye large 20
Gross motor development delay 21
Hanging skin 24
Hearing Loss, Partial 185
Hydrocephalus 152
Hydrophthalmos 19
Hyperopia 70
Idiopathic pulmonary arterial hypertension 40
Increased size of palpebral fissures 9
Irregular vertebral endplates 16
Joint laxity 54
Knee joint valgus deformity 56
Kyphoscoliosis deformity of spine 60
Large eyes 9
Late tooth eruption 61
Left Ventricular Hypertrophy 47
Limited hip extension 4
Long philtrum 137
Low posterior hairline 52
Low set ears 181
Lumbar lordosis 35
Metatarsus Varus 24
Microdontia (disorder) 59
Microstomia 78
Mitral Valve Prolapse Syndrome 39
Mitral regurgitation, mild 32
Mitral valve insufficiency 49
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 244
Osteopenia 99
Prominent forehead 66
Pulmonary Stenosis 45
Pulmonary hypertension 86
Radioulnar synostosis 35
Rhizomelia 25
Shield chest 8
Short distal phalanges 50
Short femoral neck 15
Short metacarpal 43
Short neck 140
Short phalanx of finger 32
Short stature 531
Short ulnae 24
Small capital femoral epiphyses 10
Small epiphyses 9
Small face 10
Sparse eyebrow 42
Spatulate thumbs 3
Spondyloepiphyseal Dysplasia 7
Spondyloepiphyseal dysplasia, Omani type 1
Talipes Equinovalgus 4
Thick, flared eyebrows 41
Tibial bowing 19
Toeing-in 24
Tricuspid valve insufficiency 14
Tricuspid valve stenosis 6
ULNAR HYPOPLASIA 24
Ulnar bowing 10
Uranostaphyloschisis 167
Ventricular Septal Defects 119
Ventricular hypertrophy 6
Waddling gait 34
Wide skull shape 88
Wide spaced nipples 46
Widely spaced teeth 31
hearing impairment 199
pulmonary arterial hypertension 76
Disease Target Count Z-score Confidence
Carcinoma 11493 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