Property Summary

NCBI Gene PubMed Count 68
PubMed Score 57.41
PubTator Score 57.68

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (3)

Disease Target Count
22q11 Deletion Syndrome 10
22q11 partial monosomy syndrome 9
Abnormality of aortic arch 9
Abnormality of pulmonary valve 23
Abnormality of the abdomen 14
Abnormality of the pharynx 19
Abnormality of the tonsils 10
Acne 52
Arachnodactyly 49
Atrial Septal Defects 85
Attention deficit hyperactivity disorder 278
Autosomal recessive predisposition 1442
Bleeding tendency 37
Bleeding time prolonged 31
Blepharoptosis 231
Broad flat nasal bridge 236
Bulbous nasal tip 48
Bulbous nose 48
CONOTRUNCAL ANOMALY FACE SYNDROME 9
Chronic otitis media 52
Cleft Palate 271
Cognitive delay 608
Conductive hearing loss 123
Congenital Epicanthus 177
Congenital Heart Defects 58
Congenital hypoplasia of kidney 32
Congenital hypoplasia of thymus 15
Constipation 181
Convex nasal bridge 57
Corneal Neovascularization 13
Decreased platelet count 111
Dental caries 164
DiGeorge syndrome 47
Dyschezia 135
Dysphasia 23
Dysseborrheic dermatitis 13
Embryotoxon 28
Epistaxis 43
FNAITP 6
Global developmental delay 608
Hypernasal voice 39
Hypocalcemia 32
Hypoparathyroidism 41
Hypoplastic lobules 11
Hypotrophic malar bone 129
Immunologic Deficiency Syndromes 113
Impaired T cell function 14
Increased mean platelet volume 6
Juvenile arthritis 126
Long face 71
Long philtrum 137
Low set ears 181
Malar flattening 129
Menorrhagia 25
Mental and motor retardation 608
Mild Mental Retardation 70
Muscle hypotonia 571
Myalgia 54
Nasal bridge wide 236
Nasal voice 39
Occipital myelomeningocele 8
Overfolded helix 24
Persistant truncus arteriosus 17
Platybasia 13
Posterior embryotoxon 28
Potato nose 48
Prominent nasal bridge 57
Purpura 43
Rotting teeth 73
Seborrheic dermatitis 31
Short neck 140
Short stature 531
Shprintzen syndrome 9
Small thymus 13
Specific learning disability 47
Telecanthus 62
Tetany 18
Tetralogy of Fallot 63
Upward slant of palpebral fissure 75
Uranostaphyloschisis 167
Ventricular Septal Defects 119
ear infection chronic 52

Gene RIF (38)

AA Sequence

MGSGPRGALSLLLLLLAPPSRPAAGCPAPCSCAGTLVDCGRRGLTWASLPTAFPVDTTELVLTGNNLTAL      1 - 70
PPGLLDALPALRTAHLGANPWRCDCRLVPLRAWLAGRPERAPYRDLRCVAPPALRGRLLPYLAEDELRAA     71 - 140
CAPGPLCWGALAAQLALLGLGLLHALLLVLLLCRLRRLRARARARAAARLSLTDPLVAERAGTDES        141 - 206
//

Text Mined References (73)

PMID Year Title