Property Summary

Ligand Count 1
NCBI Gene PubMed Count 91
PubMed Score 188.35
PubTator Score 53.59

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Robinow Syndrome, Autosomal Dominant 3 0.0 0.0
Disease Target Count
Robinow syndrome 11
Accessory kidney 5
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Anteverted nostril 191
Bifid distal phalanx of toe 3
Bifid terminal phalanges 3
Big calvaria 147
Brachydactyly 156
Broad flat nasal bridge 236
Broad thumbs 28
Broad toes 5
Clitoral hypoplasia 11
Cognitive delay 608
Congenital clinodactyly 57
Congenital hypoplasia of penis 176
Cryptorchidism 296
Curvature of digit 57
Decreased projection of midface 105
Delayed bone age 136
Downward slant of palpebral fissure 158
Dull intelligence 645
Exophthalmos 112
Flat face 52
Frontal bossing 157
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Global developmental delay 608
Hernia, Inguinal 89
High forehead 102
Hydronephrosis 89
Hypoplastic mandible condyle 275
Hypoplastic palate 4
Hypotrophic malar bone 129
Hypotrophic midface 105
Inadequate arch length for tooth size 45
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 1016
Late tooth eruption 61
Long palpebral fissure 17
Long philtrum 137
Low intelligence 645
Macroglossia 65
Malar flattening 129
Malocclusion 57
Mandibular hypoplasia 275
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mesomelia 8
Micrognathism 275
Midface retrusion 105
Nasal bridge wide 236
Orbital separation excessive 244
Pectus excavatum 100
Poor school performance 645
Port-Wine Stain 8
Posteriorly rotated ear 61
Prenatal onset 139
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Radially deviated fingers 38
Short distal phalanges 50
Short hands 50
Short hard palate 4
Short middle phalanx of the 5th finger 13
Short nose 132
Short palate 4
Small labia majora 16
Small midface 105
Small nose 132
Tall forehead 102
Thin upper lip vermilion 67
Tooth Crowding 45
Tooth mass arch size discrepancy 45
Tooth size discrepancy 45
Triangular mouth 6
Umbilical hernia 93
Ventricular Outflow Obstruction, Right 3
Wide anterior fontanel 44
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.6
Disease Target Count Z-score Confidence
Cancer 2499 3.729 1.9

Expression

  Differential Expression (3)

Disease log2 FC p
adult high grade glioma -1.100 3.3e-04
pancreatic ductal adenocarcinoma liver m... 1.418 2.6e-03
spina bifida -1.238 4.2e-02

 GWAS Trait (1)

Protein-protein Interaction (2)

Gene RIF (49)

AA Sequence

MAETKIIYHMDEEETPYLVKLPVAPERVTLADFKNVLSNRPVHAYKFFFKSMDQDFGVVKEEIFDDNAKL      1 - 70
PCFNGRVVSWLVLAEGAHSDAGSQGTDSHTDLPPPLERTGGIGDSRPPSFHPNVASSRDGMDNETGTESM     71 - 140
VSHRRERARRRNREEAARTNGHPRGDRRRDVGLPPDSASTALSSELESSSFVDSDEDGSTSRLSSSTEQS    141 - 210
TSSRLIRKHKRRRRKQRLRQADRASSFSSITDSTMSLNIVTVTLNMERHHFLGISIVGQSNDRGDGGIYI    211 - 280
GSIMKGGAVAADGRIEPGDMLLQVNDVNFENMSNDDAVRVLREIVSQTGPISLTVAKCWDPTPRSYFTVP    281 - 350
RADPVRPIDPAAWLSHTAALTGALPRYGTSPCSSAVTRTSSSSLTSSVPGAPQLEEAPLTVKSDMSAVVR    351 - 420
VMQLPDSGLEIRDRMWLKITIANAVIGADVVDWLYTHVEGFKERREARKYASSLLKHGFLRHTVNKITFS    421 - 490
EQCYYVFGDLCSNLATLNLNSGSSGTSDQDTLAPLPHPAAPWPLGQGYPYQYPGPPPCFPPAYQDPGFSY    491 - 560
GSGSTGSQQSEGSKSSGSTRSSRRAPGREKERRAAGAGGSGSESDHTAPSGVGSSWRERPAGQLSRGSSP    561 - 630
RSQASATAPGLPPPHPTTKAYTVVGGPPGGPPVRELAAVPPELTGSRQSFQKAMGNPCEFFVDIM         631 - 695
//

Text Mined References (92)

PMID Year Title