Property Summary

Ligand Count 1,400
NCBI Gene PubMed Count 153
PubMed Score 936.03
PubTator Score 658.88

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (5)

Disease Target Count Z-score Confidence
Pycnodysostosis 5 7.22 3.6
glioblastoma 5792 0.0 3.37205944107627E-4
Disease Target Count
Abnormal maturation of the pelvis bone 3
Abnormal pelvis bone ossification 3
Abnormal skeletal development 60
Abnormal vertebral bodies 16
Abnormality of epiphysis morphology 39
Abnormality of pelvic girdle bone morphology 37
Abnormality of the clavicle 14
Abnormality of the fingernails 51
Abnormality of the thorax 19
Absent frontal sinuses 8
Acquired scoliosis 281
Acro-osteolysis of distal phalanges 4
Aplasia of frontal sinus 8
Autosomal recessive predisposition 1442
Blue sclera 32
Bone pain 42
Brachycephaly 88
Brachydactyly 156
Broad cranium shape 88
Congenital anomaly of spine 16
Curvature of spine 282
Decreased projection of midface 105
Delayed eruption of permanent teeth 8
Delayed eruption of primary teeth 10
Dental abnormalities 60
Dental caries 164
Exophthalmos 112
Failure of exfoliation of primary tooth 8
Frequent fractures 53
Frontal bossing 157
High forehead 102
Hyperplasia of nose 23
Hypertrophy of nose 23
Hypodontia 81
Hypoplastic mandible condyle 275
Hypoplastic toes 29
Hypotrophic malar bone 129
Hypotrophic midface 105
Increased fracture rate 53
Large nose 23
Late tooth eruption 61
Lytic lesion 32
Malar flattening 129
Mandibular hypoplasia 275
Micrognathism 275
Midface retrusion 105
Multiple vertebral anomalies 16
Narrow palate 20
Osteochondrodysplasias 72
Osteosclerosis 31
Persistent open anterior fontanelle 3
Prominent back of the head 21
Prominent eyes 96
Prominent globes 96
Prominent occiput 21
Protruding eyes 96
Ridged nails 14
Rotting teeth 73
Schizophrenia 1160
Short distal phalanges 50
Short stature 531
Small midface 105
Spondylolisthesis 22
Spondylolysis 14
Structure of wormian bone 24
Tall forehead 102
Tooth Abnormalities 69
Varying degree of multiple fractures 53
Wide skull shape 88
Disease Target Count
Chronic hepatitis C 12

Expression

  Differential Expression (20)

Disease log2 FC p
glioblastoma 1.200 3.4e-04
acute quadriplegic myopathy 1.266 6.2e-05
adult high grade glioma 1.100 1.2e-03
Astrocytoma, Pilocytic 2.300 1.2e-08
Atopic dermatitis -1.800 1.4e-03
Breast cancer 1.700 2.4e-06
cystic fibrosis 1.888 2.2e-06
diabetes mellitus -1.300 6.3e-03
Duchenne muscular dystrophy 1.551 6.4e-11
gastric carcinoma 2.400 2.8e-03
group 3 medulloblastoma 1.200 2.5e-03
intraductal papillary-mucinous adenoma (... -1.700 1.1e-02
intraductal papillary-mucinous carcinoma... -1.500 3.6e-02
osteosarcoma 2.102 3.7e-02
ovarian cancer -2.200 8.5e-05
pancreatic cancer 1.100 1.6e-02
primary pancreatic ductal adenocarcinoma 3.454 3.1e-05
primary Sjogren syndrome 1.300 6.7e-04
tuberculosis and treatment for 6 months 1.300 3.0e-04
ulcerative colitis 2.500 2.9e-05

Protein-protein Interaction (6)

PDB (52)

Gene RIF (121)

AA Sequence

MWGLKVLLLPVVSFALYPEEILDTHWELWKKTHRKQYNNKVDEISRRLIWEKNLKYISIHNLEASLGVHT      1 - 70
YELAMNHLGDMTSEEVVQKMTGLKVPLSHSRSNDTLYIPEWEGRAPDSVDYRKKGYVTPVKNQGQCGSCW     71 - 140
AFSSVGALEGQLKKKTGKLLNLSPQNLVDCVSENDGCGGGYMTNAFQYVQKNRGIDSEDAYPYVGQEESC    141 - 210
MYNPTGKAAKCRGYREIPEGNEKALKRAVARVGPVSVAIDASLTSFQFYSKGVYYDESCNSDNLNHAVLA    211 - 280
VGYGIQKGNKHWIIKNSWGENWGNKGYILMARNKNNACGIANLASFPKM                         281 - 329
//

Text Mined References (156)

PMID Year Title