Property Summary

NCBI Gene PubMed Count 237
PubMed Score 2144.51
PubTator Score 4913.97

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Aortic Valve Insufficiency 40
Intellectual disability 1016
Abdominal Pain 98
Abnormal coordination 15
Abnormality of pelvic girdle bone morphology 37
Abnormality of the face 10
Abnormality of the fingernails 51
Acquired flat foot 72
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anxiety 136
Anxiety disease 113
Arthralgia 90
Attention deficit hyperactivity disorder 278
Autistic Disorder 364
Bicuspid aortic valve 16
Bilateral fifth finger clinodactyly 110
Bladder Diverticulum 15
Blepharophimosis 70
Bowel diverticula 6
Bowel diverticulosis 6
Brain Ischemia 110
Broad flat nasal bridge 236
Broad forehead 59
Broad nasal tip 28
Bunion 26
CUTIS LAXA, AUTOSOMAL DOMINANT 1 2
Cardiac Arrhythmia 103
Cardiac conduction abnormalities 78
Cellulitis of periorbital region 13
Cerebellar Dysmetria 56
Cerebral Ischemia 37
Cerebrovascular accident 63
Chronic Obstructive Airway Disease 37
Chronic constipation 7
Chronic otitis media 52
Chubby cheeks 50
Coarse facial features 108
Colon diverticulum anatomic structure 15
Concave bridge of nose 195
Conduction disorder of the heart 79
Congenital Epicanthus 177
Congenital anomaly of face 56
Congenital anomaly of neck 19
Congenital hypoplasia of kidney 32
Congenital supravalvular aortic stenosis 1
Constipation 181
Contracture 96
Contracture of joint 93
Coronary stenosis 8
Creatine phosphokinase serum increased 110
Curvature of little finger 110
Decreased projection of midface 105
Decreased size of teeth 62
Decreased width of tooth 59
Defective tooth enamel 31
Deformity of neck 19
Depressed cheekbone 22
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Depressive disorder 409
Diaphragmatic Hernia 40
Disorder of face 10
Diverticular disease of colon 15
Dull intelligence 645
Dyschezia 135
Dysgraphia 20
Dystrophic tooth enamel 31
EKG abnormalities 78
Electrocardiogram abnormal 81
Electrocardiogram change 78
Elevated creatine kinase 110
Elfin facies 10
Enamel abnormalities 31
Enuresis 7
Everted lower lip vermilion 54
Extrapyramidal Disorders 29
Extrapyramidal sign 29
Failure to thrive in infancy 32
Feeding difficulties in infancy 175
Fetal Growth Retardation 189
Flatfoot 73
Flattening of the zygomatic bone 22
Fleshy earlobes 8
Flexion contracture 93
Flexion contractures of joints 93
Full cheeks 50
Full lower lip 64
Gait imbalance 17
Gastroesophageal reflux disease 110
Generalized elastolysis 24
Generalized osteopenia 99
Hallux Valgus 26
Hanging skin 24
Heartburn 78
Hernia, Inguinal 89
High forehead 102
High-grade hypermetropia 24
Hoarseness 31
Hyperacusis 11
Hypercalcemia 59
Hypercalciuria 27
Hyperkyphosis 111
Hyperplasia of cheeks 50
Hyperreflexia 209
Hypertension, Renovascular 10
Hypertensive disease 292
Hypertrophy of cheeks 50
Hypodontia 81
Hypoplasia of the zygomatic bone 22
Hypoplastic mandible condyle 275
Hypoplastic toenails 22
Hypotrophic cheekbone 22
Hypotrophic midface 105
Impaired glucose tolerance 28
Impaired visuospatial constructive cognition 2
Infant, Small for Gestational Age 176
Intrauterine retardation 176
Joint hyperflexibility 78
Joint laxity 54
Joint stiffness 84
Kidney Failure 111
Knee joint valgus deformity 56
Kyphoscoliosis deformity of spine 60
Kyphosis deformity of spine 114
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Long philtrum 137
Lordosis 54
Low Vision 174
Low intelligence 645
Low-set, posteriorly rotated ears 110
Macroglossia 65
Macrostomia 72
Macrotia 87
Malformation of the neck 19
Malocclusion 57
Mandibular hypoplasia 275
Medial eyebrow flare 4
Mental Retardation 645
Mental deficiency 645
Microdontia (disorder) 59
Micrognathism 275
Micronychia (disorder) 24
Midface retrusion 105
Mitral Valve Prolapse Syndrome 39
Mitral regurgitation, mild 32
Mitral valve insufficiency 49
Muscle Spasticity 195
Muscle hypotonia 571
Narrow face 54
Narrow forehead 34
Nasal bridge wide 236
Nausea and vomiting 97
Nystagmus-induced head nodding 9
Obesity 678
Obsessive compulsive behavior 25
Obsessive-compulsive trait 4
Open Bite 21
Open mouth 45
Orbital separation excessive 244
Osteopenia 99
Osteoporosis 363
Overfriendliness 8
Pelvic kidney 10
Periorbital edema 13
Periorbital fullness 9
Periorbital swelling 13
Peripheral arterial stenosis 4
Peripheral pulmonary artery stenosis 14
Phonophobia 11
Pointed chin 33
Poor coordination 11
Poor school performance 645
Precociously senile appearance 18
Premature canities 24
Prominent ear 56
Prominent lower lip 64
Proteinuria 144
Protruding ears 56
Protruding lower lip 54
Puffy cheeks 50
Pulmonary Stenosis 45
Pulmonary artery stenosis 26
Rectal prolapse 19
Recurrent otitis media 42
Recurrent urinary tract infection 24
Redundant skin 28
Renal Insufficiency 90
Renal failure in adulthood 76
Sacral dimples 18
Sensorineural Hearing Loss (disorder) 284
Short nose 132
Short stature 531
Skin Wrinkling 7
Sleeplessness 16
Sloping shoulders 21
Small cheekbone 22
Small head 374
Small midface 105
Small nose 132
Soft skin 17
Strabismus 270
Supravalvular aortic stenosis 12
Tall forehead 102
Thickened facial skin with coarse facial features 108
Thin face 54
Tremor 113
Urethral Stricture 18
Velvety skin 17
Vesico-Ureteral Reflux 33
Visual Impairment 174
blue iris (physical finding) 17
ear infection chronic 52
obsessive-compulsive disorder 61
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7

Expression

  Differential Expression (15)

Disease log2 FC p
adult high grade glioma 2.300 1.0e-05
astrocytic glioma 1.200 1.4e-02
Astrocytoma, Pilocytic 1.300 1.0e-02
cystic fibrosis -1.573 2.4e-05
Duchenne muscular dystrophy 1.273 3.5e-09
ependymoma 2.700 4.8e-02
Gaucher disease type 3 2.100 1.5e-02
glioblastoma 1.300 1.2e-03
intraductal papillary-mucinous neoplasm ... -1.100 1.2e-02
invasive ductal carcinoma -1.700 2.4e-02
medulloblastoma 1.300 1.8e-02
medulloblastoma, large-cell 1.300 5.2e-03
oligodendroglioma 1.300 1.3e-02
primary pancreatic ductal adenocarcinoma 1.566 3.1e-03
psoriasis -1.400 1.4e-02

Gene RIF (189)

AA Sequence

MAGLTAAAPRPGVLLLLLSILHPSRPGGVPGAIPGGVPGGVFYPGAGLGALGGGALGPGGKPLKPVPGGL      1 - 70
AGAGLGAGLGAFPAVTFPGALVPGGVADAAAAYKAAKAGAGLGGVPGVGGLGVSAGAVVPQPGAGVKPGK     71 - 140
VPGVGLPGVYPGGVLPGARFPGVGVLPGVPTGAGVKPKAPGVGGAFAGIPGVGPFGGPQPGVPLGYPIKA    141 - 210
PKLPGGYGLPYTTGKLPYGYGPGGVAGAAGKAGYPTGTGVGPQAAAAAAAKAAAKFGAGAAGVLPGVGGA    211 - 280
GVPGVPGAIPGIGGIAGVGTPAAAAAAAAAAKAAKYGAAAGLVPGGPGFGPGVVGVPGAGVPGVGVPGAG    281 - 350
IPVVPGAGIPGAAVPGVVSPEAAAKAAAKAAKYGARPGVGVGGIPTYGVGAGGFPGFGVGVGGIPGVAGV    351 - 420
PGVGGVPGVGGVPGVGISPEAQAAAAAKAAKYGAAGAGVLGGLVPGPQAAVPGVPGTGGVPGVGTPAAAA    421 - 490
AKAAAKAAQFGLVPGVGVAPGVGVAPGVGVAPGVGLAPGVGVAPGVGVAPGVGVAPGIGPGGVAAAAKSA    491 - 560
AKVAAKAQLRAAAGLGAGIPGLGVGVGVPGLGVGAGVPGLGVGAGVPGFGAGADEGVRRSLSPELREGDP    561 - 630
SSSQHLPSTPSSPRVPGALAAAKAAKYGAAVPGVLGGLGALGGVGIPGGVVGAGPAAAAAAAKAAAKAAQ    631 - 700
FGLVGAAGLGGLGVGGLGVPGVGGLGGIPPAAAAKAAKYGAAGLGGVLGGAGQFPLGGVAARPGFGLSPI    701 - 770
FPGGACLGKACGRKRK                                                          771 - 786
//

Text Mined References (237)

PMID Year Title