Property Summary

NCBI Gene PubMed Count 545
PubMed Score 1349.75
PubTator Score 948.35

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abdominal Pain 98
Abnormality of the voice 46
Anemia 365
Aortic coarctation 30
Aortic valve stenosis 28
Autistic Disorder 364
Blepharophimosis 70
Broad ribs 12
Bushy eyebrows 49
Cholecystitis 18
Class III malocclusion 78
Cone-shaped epiphyses 24
Congenital Camptodactyly 40
Congenital clinodactyly 57
Congenital deafness 185
Congenital small ears 48
Convex nasal bridge 57
Cryptorchidism 296
Curvature of digit 57
Decreased joint mobility 53
Decreased projection of maxilla 66
Decreased projection of midface 105
Deficiency of upper jaw bones 66
Diffusely thickened skin 20
Dull intelligence 645
Enlarged vertebral pedicles 1
Enophthalmos 75
Epilepsy 792
Epistaxis 43
Failure to gain weight 365
Fetal Growth Retardation 189
Fine hair 42
Fused vertebrae 25
Gastrointestinal hamartomatous polyps 10
Generalized muscle hypertrophy 1
Hamartomatous polyp 10
Hearing Loss, Partial 185
Heart Septal Defects 24
Hemangioma, Cavernous 20
Hematochezia 9
Hemoglobin low 124
Hyperopia 70
Hypertension, Portal 22
Hypertensive disease 292
Hypertrophy of lower jaw 78
Hypoalbuminemia 24
Hypokalemia 52
Hypoplasia of the maxilla 66
Hypoplastic finger 17
Hypoplastic iliac wing 19
Hypoplastic toes 29
Hypotrophic malar bone 129
Hypotrophic maxilla 66
Hypotrophic midface 105
Increase in blood pressure 119
Increased risk of pancreatic cancer 9
Increased size of mandible 78
Increased thickness of cranium 17
Infant, Small for Gestational Age 176
Intellectual disability 1016
Intermittent migraine headaches 68
Intrauterine retardation 176
Invasive Ductal Breast Carcinoma 9
Iron-Refractory Iron Deficiency Anemia 15
JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME (disorder) 1
Laryngotracheal stenosis 2
Low intelligence 645
Low set ears 181
Malar flattening 129
Malignant neoplasm of pancreas 9
Mandibular hyperplasia 78
Maxillary retrognathia 66
Mental Retardation 645
Mental deficiency 645
Microstomia 78
Midface retrusion 105
Migraine Disorders 76
Myopathy 185
Orbital separation excessive 244
Overriding toe 10
Pachyderma 20
Pancreatic Neoplasm 85
Pancreatic carcinoma, familial 8
Patent ductus arteriosus 90
Pediatric failure to thrive 365
Pericardial effusion 14
Platyspondyly 56
Polyposis, Gastric 4
Poor school performance 645
Prominent nasal bridge 57
Radially deviated fingers 38
Retrusion of upper jaw bones 66
Seizures 596
Short finger 17
Short neck 140
Short philtrum 53
Short stature 531
Short tubular bones 22
Simple syndactyly of toes, first web space 23
Small head 374
Small midface 105
Somatic mutation 61
Sparse hair 59
Spinal fusion 25
Spontaneous haematoma 8
Stiff skin 3
Strabismus 270
Sunken eyes 63
Telangiectasia of the skin 39
Thickened calvaria 17
Thin upper lip vermilion 67
Thin, sparse hair 59
Vertebral body fusion 25
Visceral angiomatosis 13
hearing impairment 199
mandibular excess (physical finding) 78

Expression

  Differential Expression (10)

Disease log2 FC p
acute quadriplegic myopathy 1.049 5.2e-04
Breast cancer -1.400 5.9e-12
ependymoma 1.300 4.1e-02
group 4 medulloblastoma 1.200 7.1e-05
medulloblastoma, large-cell 1.300 4.9e-04
oligodendroglioma 1.200 3.6e-02
osteosarcoma 1.375 9.3e-04
ovarian cancer -2.400 3.5e-08
pediatric high grade glioma 1.100 4.2e-03
subependymal giant cell astrocytoma -1.575 2.9e-02

Protein-protein Interaction (5)

Gene RIF (408)

AA Sequence

MDNMSITNTPTSNDACLSIVHSLMCHRQGGESETFAKRAIESLVKKLKEKKDELDSLITAITTNGAHPSK      1 - 70
CVTIQRTLDGRLQVAGRKGFPHVIYARLWRWPDLHKNELKHVKYCQYAFDLKCDSVCVNPYHYERVVSPG     71 - 140
IDLSGLTLQSNAPSSMMVKDEYVHDFEGQPSLSTEGHSIQTIQHPPSNRASTETYSTPALLAPSESNATS    141 - 210
TANFPNIPVASTSQPASILGGSHSEGLLQIASGPQPGQQQNGFTGQPATYHHNSTTTWTGSRTAPYTPNL    211 - 280
PHHQNGHLQHHPPMPPHPGHYWPVHNELAFQPPISNHPAPEYWCSIAYFEMDVQVGETFKVPSSCPIVTV    281 - 350
DGYVDPSGGDRFCLGQLSNVHRTEAIERARLHIGKGVQLECKGEGDVWVRCLSDHAVFVQSYYLDREAGR    351 - 420
APGDAVHKIYPSAYIKVFDLRQCHRQMQQQAATAQAAAAAQAAAVAGNIPGPGSVGGIAPAISLSAAAGI    421 - 490
GVDDLRRLCILRMSFVKGWGPDYPRQSIKETPCWIEIHLHRALQLLDEVLHTMPIADPQPLD            491 - 552
//

Text Mined References (554)

PMID Year Title