Property Summary

NCBI Gene PubMed Count 29
PubMed Score 10.83
PubTator Score 11.99

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Supravalvular aortic stenosis 12
Abdominal Pain 98
Abnormality of pelvic girdle bone morphology 37
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
Bilateral fifth finger clinodactyly 110
Blepharophimosis 70
Brain Ischemia 110
Broad flat nasal bridge 236
Broad forehead 59
Bunion 26
Cellulitis of periorbital region 13
Cerebellar Dysmetria 56
Cerebral Ischemia 37
Cerebrovascular accident 63
Chronic otitis media 52
Coarse facial features 108
Colon diverticulum anatomic structure 15
Congenital Epicanthus 177
Congenital anomaly of neck 19
Constipation 181
Creatine phosphokinase serum increased 110
Curvature of little finger 110
Decreased size of teeth 62
Decreased width of tooth 59
Defective tooth enamel 31
Deformity of neck 19
Depressed cheekbone 22
Depressive disorder 409
Diverticular disease of colon 15
Dull intelligence 645
Dyschezia 135
Dysgraphia 20
Dystrophic tooth enamel 31
Elevated creatine kinase 110
Elfin facies 10
Enamel abnormalities 31
Everted lower lip vermilion 54
Extrapyramidal Disorders 29
Extrapyramidal sign 29
Failure to thrive in infancy 32
Flatfoot 73
Flattening of the zygomatic bone 22
Full lower lip 64
Gait imbalance 17
Hallux Valgus 26
Hernia, Inguinal 89
High forehead 102
High-grade hypermetropia 24
Hoarseness 31
Hyperacusis 11
Hypercalcemia 59
Hypercalciuria 27
Hyperkyphosis 111
Hyperreflexia 209
Hypertension, Renovascular 10
Hypodontia 81
Hypoplasia of the zygomatic bone 22
Hypoplastic mandible condyle 275
Hypoplastic toenails 22
Hypotrophic cheekbone 22
Intellectual disability 1016
Joint stiffness 84
Kidney Failure 111
Knee joint valgus deformity 56
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
Mental Retardation 645
Mental deficiency 645
Microdontia (disorder) 59
Micrognathism 275
Mitral Valve Prolapse Syndrome 39
Mitral regurgitation, mild 32
Mitral valve insufficiency 49
Muscle Spasticity 195
Muscle hypotonia 571
Narrow face 54
Nasal bridge wide 236
Nausea and vomiting 97
Nystagmus-induced head nodding 9
Obesity 678
Obsessive compulsive behavior 25
Open Bite 21
Overfriendliness 8
Pelvic kidney 10
Periorbital edema 13
Periorbital swelling 13
Peripheral pulmonary artery stenosis 14
Phonophobia 11
Pointed chin 33
Poor school performance 645
Prominent ear 56
Prominent lower lip 64
Proteinuria 144
Protruding ears 56
Protruding lower lip 54
Pulmonary Stenosis 45
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
Sleeplessness 16
Sloping shoulders 21
Small cheekbone 22
Small head 374
Small nose 132
Strabismus 270
Tall forehead 102
Thickened facial skin with coarse facial features 108
Thin face 54
Tremor 113
Visual Impairment 174
Williams Syndrome 10
ear infection chronic 52
obsessive-compulsive disorder 61
Disease Target Count P-value
osteosarcoma 7950 9.5e-07
tuberculosis and treatment for 6 months 409 2.7e-04
ovarian cancer 8520 3.7e-04
esophageal adenocarcinoma 737 2.5e-02
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.5
Disease Target Count Z-score Confidence
Williams-Beuren syndrome 50 0.0 5.0
Disease Target Count Z-score Confidence
Acute disseminated encephalomyelitis 7 3.063 1.5

Expression

  Differential Expression (4)

Disease log2 FC p
esophageal adenocarcinoma 1.100 2.5e-02
osteosarcoma 1.319 9.5e-07
ovarian cancer 1.600 3.7e-04
tuberculosis and treatment for 6 months -1.100 2.7e-04

Gene RIF (13)

AA Sequence

MELSQMSELMGLSVLLGLLALMATAAVARGWLRAGEERSGRPACQKANGFPPDKSSGSKKQKQYQRIRKE      1 - 70
KPQQHNFTHRLLAAALKSHSGNISCMDFSSNGKYLATCADDRTIRIWSTKDFLQREHRSMRANVELDHAT     71 - 140
LVRFSPDCRAFIVWLANGDTLRVFKMTKREDGGYTFTATPEDFPKKHKAPVIDIGIANTGKFIMTASSDT    141 - 210
TVLIWSLKGQVLSTINTNQMNNTHAAVSPCGRFVASCGFTPDVKVWEVCFGKKGEFQEVVRAFELKGHSA    211 - 280
AVHSFAFSNDSRRMASVSKDGTWKLWDTDVEYKKKQDPYLLKTGRFEEAAGAAPCRLALSPNAQVLALAS    281 - 350
GSSIHLYNTRRGEKEECFERVHGECIANLSFDITGRFLASCGDRAVRLFHNTPGHRAMVEEMQGHLKRAS    351 - 420
NESTRQRLQQQLTQAQETLKSLGALKK                                               421 - 447
//

Text Mined References (34)

PMID Year Title