Property Summary

Ligand Count 3
NCBI Gene PubMed Count 27
PubMed Score 15.14
PubTator Score 17.58

Knowledge Summary

Patent (988)

TINX Plot

  Disease (8)

Disease Target Count
Abnormal cervical curvature 3
Absence of labia majora 1
Acquired scoliosis 281
Akinesia 13
Anterior clefting of vertebral bodies 1
Aplasia of muscle 3
Aplasia/Hypoplasia of the abdominal wall musculature 17
Aplasia/Hypoplasia of the skin 16
Arachnodactyly 49
Autosomal recessive predisposition 1442
Axillary pterygia 6
Bilateral camptodactyly 1
Blepharoptosis 231
Byzanthine arch palate 194
Camptodactyly of toe 4
Cleft Palate 271
Conductive hearing loss 123
Congenital Epicanthus 177
Congenital anomaly of face 56
Congenital anomaly of neck 19
Congenital clubfoot 109
Congenital diaphragmatic hernia 67
Congenital dislocation of radial head 14
Congenital hypoplasia of lung 48
Contracture 96
Contracture of joint 93
Cryptorchidism 296
Curvature of spine 282
Decreased joint mobility 53
Defect of vertebral segmentation 17
Deformity of neck 19
Depressed nasal ridge 51
Diaphragmatic eventration 11
Distortion of face 46
Downturned corners of mouth 48
Downward slant of palpebral fissure 158
Dysmorphic facies 46
Dysplastic patella 1
Early severe fetal akinesia sequence 11
Edema 81
Exostosis of external ear canal 1
Facial asymmetry 32
Fetal Growth Retardation 189
Flexion contracture 93
Flexion contracture of proximal interphalangeal joint 75
Flexion contractures of joints 93
Foot Deformities 30
Funny looking face 46
Fused cervical vertebrae 5
Fused vertebrae 25
Hernia, Inguinal 89
Hyperkyphosis 111
Hypogonadism 173
Hypoplasia of nipple 16
Hypoplastic finger 17
Hypoplastic heart 3
Hypoplastic mandible condyle 275
Increased susceptibility to fractures 21
Infant, Small for Gestational Age 176
Intercrural pterygium 2
Intrauterine retardation 176
Kyphosis deformity of spine 114
Long clavicle 7
Long face 71
Long philtrum 137
Low set ears 181
Lymphangioma, Cystic 21
Malformation of the neck 19
Malignant hyperpyrexia due to anesthesia 10
Mandibular hypoplasia 275
Micrognathism 275
Microstomia 78
Multiple pterygia 4
Neck pterygia 1
Neck webbing 35
Orbital separation excessive 244
Patellar aplasia 8
Pectus excavatum 100
Pena-Shokeir syndrome type I 12
Penile hypospadias 106
Pointed chin 33
Polyhydramnios 108
Popliteal pterygium 4
Pterygium, Antecubital 2
Reduced fetal movement 51
Respiratory Distress Syndrome 15
Rib fusion 16
Short finger 17
Short stature 531
Small head 374
Spinal fusion 25
Symphalangism affecting the phalanges of the hand 5
Syndactyly 88
Syndactyly of fingers 48
Talipes Calcaneovalgus 6
Telecanthus 62
Thin rib 21
Umbilical hernia 93
Uranostaphyloschisis 167
Vertebral body fusion 25
Vertical Talus 25
facial deformity 46
Disease Target Count P-value
osteosarcoma 7950 2.3e-04
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Refractive error 50 0.0 3.0

Expression

  Differential Expression (1)

Disease log2 FC p
osteosarcoma 1.010 2.3e-04

 GWAS Trait (1)

Protein-protein Interaction (3)

Gene RIF (16)

AA Sequence

MHGGQGPLLLLLLLAVCLGAQGRNQEERLLADLMQNYDPNLRPAERDSDVVNVSLKLTLTNLISLNEREE      1 - 70
ALTTNVWIEMQWCDYRLRWDPRDYEGLWVLRVPSTMVWRPDIVLENNVDGVFEVALYCNVLVSPDGCIYW     71 - 140
LPPAIFRSACSISVTYFPFDWQNCSLIFQSQTYSTNEIDLQLSQEDGQTIEWIFIDPEAFTENGEWAIQH    141 - 210
RPAKMLLDPAAPAQEAGHQKVVFYLLIQRKPLFYVINIIAPCVLISSVAILIHFLPAKAGGQKCTVAINV    211 - 280
LLAQTVFLFLVAKKVPETSQAVPLISKYLTFLLVVTILIVVNAVVVLNVSLRSPHTHSMARGVRKVFLRL    281 - 350
LPQLLRMHVRPLAPAAVQDTQSRLQNGSSGWSITTGEEVALCLPRSELLFQQWQRQGLVAAALEKLEKGP    351 - 420
ELGLSQFCGSLKQAAPAIQACVEACNLIACARHQQSHFDNGNEEWFLVGRVLDRVCFLAMLSLFICGTAG    421 - 490
IFLMAHYNRVPALPFPGDPRPYLPSPD                                               491 - 517
//

Text Mined References (28)

PMID Year Title