Property Summary

NCBI Gene PubMed Count 33
PubMed Score 24.53
PubTator Score 26.43

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count
Schizophrenia 1136
22q11 Deletion Syndrome 10
22q11 partial monosomy syndrome 9
Abnormality of aortic arch 9
Abnormality of pulmonary valve 23
Abnormality of the pharynx 19
Abnormality of the tonsils 10
Acne 49
Arachnodactyly 49
Atrial Septal Defects 81
Attention deficit hyperactivity disorder 272
Blepharoptosis 229
Broad flat nasal bridge 232
Bulbous nasal tip 45
Bulbous nose 45
CONOTRUNCAL ANOMALY FACE SYNDROME 9
Chronic otitis media 52
Cleft Palate 265
Cognitive delay 596
Conductive hearing loss 122
Congenital Epicanthus 175
Congenital hypoplasia of kidney 31
Congenital hypoplasia of thymus 15
Constipation 174
Convex nasal bridge 56
Corneal Neovascularization 13
Dental caries 157
DiGeorge syndrome 46
Dyschezia 129
Dysphasia 23
Dysseborrheic dermatitis 13
Embryotoxon 28
Global developmental delay 596
Hypernasal voice 39
Hypocalcemia 32
Hypoparathyroidism 40
Hypoplastic lobules 11
Hypotrophic malar bone 129
Immunologic Deficiency Syndromes 110
Impaired T cell function 14
Long face 71
Long philtrum 137
Low set ears 178
Malar flattening 129
Mental and motor retardation 596
Mild Mental Retardation 68
Muscle hypotonia 562
Myalgia 53
Nasal bridge wide 232
Nasal voice 39
Occipital myelomeningocele 8
Overfolded helix 22
Persistant truncus arteriosus 17
Platybasia 13
Posterior embryotoxon 28
Potato nose 45
Prominent nasal bridge 56
Rotting teeth 69
Schizophrenia and related disorders 8
Seborrheic dermatitis 31
Short neck 139
Short stature 514
Shprintzen syndrome 9
Small thymus 13
Specific learning disability 46
Telecanthus 62
Tetany 18
Tetralogy of Fallot 66
Upward slant of palpebral fissure 74
Uranostaphyloschisis 162
Ventricular Septal Defects 113
ear infection chronic 52
Disease Target Count P-value
ovarian cancer 8297 1.8e-05
non primary Sjogren syndrome sicca 861 1.8e-02
Disease Target Count Z-score Confidence
Carcinoma 11192 0.0 0.8
Disease Target Count Z-score Confidence
Velocardiofacial syndrome 46 4.805 2.4
Disease Target Count
22q11.2 deletion syndrome 8

Expression

  Differential Expression (2)

Disease log2 FC p
non primary Sjogren syndrome sicca 1.100 1.8e-02
ovarian cancer -1.400 1.8e-05

Gene RIF (22)

AA Sequence

MEDCNVHSAASILASVKEQEARFERLTRALEQERRHVALQLERAQQPGMVSGGMGSGQPLPMAWQQLVLQ      1 - 70
EQSPGSQASLATMPEAPDVLEETVTVEEDPGTPTSHVSIVTSEDGTTRRTETKVTKTVKTVTTRTVRQVP     71 - 140
VGPDGLPLLDGGPPLGPFADGALDRHFLLRGGGPVATLSRAYLSSGGGFPEGPEPRDSPSYGSLSRGLGM    141 - 210
RPPRAGPLGPGPGDGCFTLPGHREAFPVGPEPGPPGGRSLPERFQAEPYGLEDDTRSLAADDEGGPELEP    211 - 280
DYGTATRRRPECGRGLHTRAYEDTADDGGELADERPAFPMVTAPLAQPERGSMGSLDRLVRRSPSVDSAR    281 - 350
KEPRWRDPELPEVLAMLRHPVDPVKANAAAYLQHLCFENEGVKRRVRQLRGLPLLVALLDHPRAEVRRRA    351 - 420
CGALRNLSYGRDTDNKAAIRDCGGVPALVRLLRAARDNEVRELVTGTLWNLSSYEPLKMVIIDHGLQTLT    421 - 490
HEVIVPHSGWEREPNEDSKPRDAEWTTVFKNTSGCLRNVSSDGAEARRRLRECEGLVDALLHALQSAVGR    491 - 560
KDTDNKSVENCVCIMRNLSYHVHKEVPGADRYQEAEPGPLGSAVGSQRRRRDDASCFGGKKAKEEWFHQG    561 - 630
KKDGEMDRNFDTLDLPKRTEAAKGFELLYQPEVVRLYLSLLTESRNFNTLEAAAGALQNLSAGNWMWATY    631 - 700
IRATVRKERGLPVLVELLQSETDKVVRAVAIALRNLSLDRRNKDLIGSYAMAELVRNVRNAQAPPRPGAC    701 - 770
LEEDTVVAVLNTIHEIVSDSLDNARSLLQARGVPALVALVASSQSVREAKAASHVLQTVWSYKELRGTLQ    771 - 840
KDGWTKARFQSAAATAKGPKGALSPGGFDDSTLPLVDKSLEGEKTGSRDVIPMDALGPDGYSTVDRRERR    841 - 910
PRGASSAGEASEKEPLKLDPSRKAPPPGPSRPAVRLVDAVGDAKPQPVDSWV                      911 - 962
//

Text Mined References (39)

PMID Year Title