Property Summary

NCBI Gene PubMed Count 52
PubMed Score 95.50
PubTator Score 1890.54

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Chromosome 22q11.2 microduplication syndrome 8
Cleft Palate 271
22q11 Deletion Syndrome 10
22q11 partial monosomy syndrome 9
Abnormality of aortic arch 9
Abnormality of metabolism/homeostasis 134
Abnormality of pulmonary valve 23
Abnormality of the endocrine system 9
Abnormality of the pharynx 19
Abnormality of the tonsils 10
Acne 52
Acquired scoliosis 281
Aggressive behavior 75
Aggressive reaction 75
Amblyopia 38
Aortic coarctation 30
Arachnodactyly 49
Atrial Septal Defects 85
Atrioventricular Septal Defect 22
Attention deficit hyperactivity disorder 278
Autosomal recessive predisposition 1442
Bilateral fifth finger clinodactyly 110
Bipolar Disorder 666
Blepharophimosis 70
Blepharoptosis 231
Broad flat nasal bridge 236
Broad forehead 59
Broad hallux 29
Bulbous nasal tip 48
Bulbous nose 48
CONOTRUNCAL ANOMALY FACE SYNDROME 9
CONOTRUNCAL HEART MALFORMATIONS (disorder) 6
Cholelithiasis 33
Chronic otitis media 52
Cleft uvula 27
Cognitive delay 608
Conductive hearing loss 123
Congenital Epicanthus 177
Congenital Heart Defects 58
Congenital absence of parathyroid gland 2
Congenital ear anomaly NOS (disorder) 29
Congenital hypoplasia of kidney 32
Congenital hypoplasia of thymus 15
Constipation 181
Convex nasal bridge 57
Corneal Neovascularization 13
Curvature of little finger 110
Curvature of spine 282
Decreased projection of midface 105
Delayed speech and language development 112
Dental caries 164
Depressed nasal ridge 51
Discordant ventriculoarterial connection 17
Double Outlet Right Ventricle 11
Downward slant of palpebral fissure 158
Dull intelligence 645
Dyschezia 135
Dysphasia 23
Dysseborrheic dermatitis 13
Embryotoxon 28
Endocrine System Diseases 11
Epilepsy 792
Esotropia 31
Exophthalmos 112
Exotropia 35
Global developmental delay 608
Hand deformities 32
Hernia, Femoral 7
Hernia, Inguinal 89
High forehead 102
High, narrow palate 32
Hydronephrosis 89
Hypernasal voice 39
Hypocalcemia 32
Hypoparathyroidism 41
Hypoplastic lobules 11
Hypoplastic mandible condyle 275
Hypothyroidism 122
Hypotrophic malar bone 129
Hypotrophic midface 105
Immunologic Deficiency Syndromes 113
Impaired T cell function 14
Intellectual disability 1016
Interrupted aortic arch 4
Language Delay 112
Long face 71
Long philtrum 137
Low intelligence 645
Low set ears 181
Malar flattening 129
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Micrognathism 275
Middle ear abnormalities 2
Midface retrusion 105
Mild Mental Retardation 70
Mood Disorders 184
Mood swings 77
Muscle hypotonia 571
Myalgia 54
Narrow face 54
Nasal bridge wide 236
Nasal voice 39
Nonorganic psychosis 84
Obesity 678
Occipital myelomeningocele 8
Open mouth 45
Orbital separation excessive 244
Overfolded helix 24
POLYDACTYLY, POSTAXIAL 13
Paranoia 20
Parathyroid hypoplasia 3
Patent ductus arteriosus 90
Persistant truncus arteriosus 17
Physical aggression 76
Pierre Robin Syndrome 11
Platybasia 13
Poor school performance 645
Posterior embryotoxon 28
Potato nose 48
Preauricular Fistulae, Congenital 27
Preauricular dimple 27
Preauricular sinus 27
Prominent eyes 96
Prominent globes 96
Prominent nasal bridge 57
Protruding eyes 96
Psychotic Disorders 151
RENAL ADYSPLASIA 25
Recurrent infections 48
Renal dysplasia 28
Retrognathia 54
Right aortic arch with mirror image branching 5
Rotting teeth 73
Schizophrenia 1160
Sclerocornea 29
Seborrheic dermatitis 31
Seizures 596
Short neck 140
Short palpebral fissure 38
Short philtrum 53
Short stature 531
Small head 374
Small midface 105
Small thymus 13
Specific learning disability 47
Speech Delay 112
Speech Disorders 58
Speech impairment 112
THYMUS ABNORMALITY 3
Tall forehead 102
Telecanthus 62
Tetany 18
Thin face 54
Thin hypoplastic alae nasi 51
Tortuous retinal vessels 15
Umbilical hernia 93
Unilateral agenesis of kidney 20
Unilateral primary pulmonary dysgenesis 5
Upward slant of palpebral fissure 75
Uranostaphyloschisis 167
Velopharyngeal Insufficiency 8
Velopharyngeal dysfunction 8
Ventricular Septal Defects 119
ear infection chronic 52
Disease Target Count Z-score Confidence
Velocardiofacial syndrome 46 6.221 3.1

Expression

  Differential Expression (8)

Disease log2 FC p
atypical teratoid / rhabdoid tumor 1.800 3.2e-05
Breast cancer 1.100 2.7e-04
group 3 medulloblastoma 1.700 3.1e-03
invasive ductal carcinoma 1.100 2.2e-02
malignant mesothelioma 1.200 1.6e-03
medulloblastoma, large-cell 1.900 7.3e-03
psoriasis -1.100 1.4e-03
X-linked cerebral adrenoleukodystrophy -1.400 1.6e-02

 GO Component (1)

Gene RIF (48)

AA Sequence

MHFSTVTRDMEAFTASSLSSLGAAGGFPGAASPGADPYGPREPPPPPPRYDPCAAAAPGAPGPPPPPHAY      1 - 70
PFAPAAGAATSAAAEPEGPGASCAAAAKAPVKKNAKVAGVSVQLEMKALWDEFNQLGTEMIVTKAGRRMF     71 - 140
PTFQVKLFGMDPMADYMLLMDFVPVDDKRYRYAFHSSSWLVAGKADPATPGRVHYHPDSPAKGAQWMKQI    141 - 210
VSFDKLKLTNNLLDDNGHIILNSMHRYQPRFHVVYVDPRKDSEKYAEENFKTFVFEETRFTAVTAYQNHR    211 - 280
ITQLKIASNPFAKGFRDCDPEDWPRNHRPGALPLMSAFARSRNPVASPTQPSGTEKGGHVLKDKEVKAET    281 - 350
SRNTPEREVELLRDAGGCVNLGLPCPAECQPFNTQGLVAGRTAGDRLC                          351 - 398
//

Text Mined References (53)

PMID Year Title