Property Summary

Ligand Count 34
NCBI Gene PubMed Count 211
PubMed Score 32.35
PubTator Score 268.41

Knowledge Summary

Patent (24,014)

TINX Plot

  Disease (7)

Disease Target Count
Abnormality of the metaphyses 48
Abnormally-shaped vertebrae 31
Absent/hypoplastic paranasal sinuses 5
Acquired scoliosis 281
Advanced bone age 35
Agenesis of teeth 21
Bowing of the long bones 31
Byzanthine arch palate 194
Conductive hearing loss 123
Congenital sensorineural hearing loss 12
Craniofacial hyperostosis 11
Curvature of spine 282
Dental abnormalities 60
Disorder of eye 27
Downward slant of palpebral fissure 158
Enlargement of craniofacial bones 11
Eye Abnormalities 35
Flexion contracture of proximal interphalangeal joint 75
Freckles 33
Fused cervical vertebrae 5
Hyperplasia of supraorbital margins 19
Hyperplasia of supraorbital ridge 19
Hypertrophy of craniofacial bones 11
Hypertrophy of supraorbital margins 19
Hypertrophy of supraorbital ridge 19
Hypoplasia of muscle 5
Hypoplastic mandible condyle 275
Irregular metacarpals 2
Joint stiffness 84
Long fingers 9
Long metacarpals 2
Mandibular hypoplasia 275
Micrognathism 275
Mitral Regurgitation, Conductive Deafness, and Fusion of Cervical Vertebrae and of Carpal and Tarsal Bones 1
Mitral regurgitation, mild 32
Mitral valve insufficiency 49
Orbital separation excessive 244
Posterior vertebral hypoplasia 3
Prominent supraorbital ridges 19
Reduced number of teeth 21
Sensorineural Hearing Loss (disorder) 284
Short distal phalanx of hallux 2
Short stature 531
Short thumb terminal phalanx 5
Synostosis of carpal bones 9
Synostosis of carpals/tarsals 1
Thick craniofacial bones 11
Tooth Abnormalities 69
Ulnar deviation of the fingers 21
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.9
Kidney cancer 2613 0.0 0.5
Disease Target Count Z-score Confidence
Attention deficit hyperactivity disorder 278 0.0 2.2
Disease Target Count
Cardiospondylocarpofacial Syndrome 1

Expression

  Differential Expression (12)

Disease log2 FC p
acute quadriplegic myopathy 1.148 2.9e-06
atypical teratoid / rhabdoid tumor 1.300 4.1e-05
dermatomyositis 1.300 1.1e-03
glioblastoma 1.100 2.8e-02
group 4 medulloblastoma 1.300 7.3e-04
juvenile dermatomyositis 1.171 1.7e-07
lung adenocarcinoma 1.005 1.3e-04
lung cancer 1.100 2.7e-03
osteosarcoma 1.152 1.5e-03
ovarian cancer -1.500 3.3e-08
primary pancreatic ductal adenocarcinoma 1.098 6.2e-03
psoriasis -1.300 6.6e-04

Protein-protein Interaction (2)

PDB (20)

Gene RIF (147)

AA Sequence

MSTASAASSSSSSSAGEMIEAPSQVLNFEEIDYKEIEVEEVVGRGAFGVVCKAKWRAKDVAIKQIESESE      1 - 70
RKAFIVELRQLSRVNHPNIVKLYGACLNPVCLVMEYAEGGSLYNVLHGAEPLPYYTAAHAMSWCLQCSQG     71 - 140
VAYLHSMQPKALIHRDLKPPNLLLVAGGTVLKICDFGTACDIQTHMTNNKGSAAWMAPEVFEGSNYSEKC    141 - 210
DVFSWGIILWEVITRRKPFDEIGGPAFRIMWAVHNGTRPPLIKNLPKPIESLMTRCWSKDPSQRPSMEEI    211 - 280
VKIMTHLMRYFPGADEPLQYPCQYSDEGQSNSATSTGSFMDIASTNTSNKSDTNMEQVPATNDTIKRLES    281 - 350
KLLKNQAKQQSESGRLSLGASRGSSVESLPPTSEGKRMSADMSEIEARIAATTAYSKPKRGHRKTASFGN    351 - 420
ILDVPEIVISGNGQPRRRSIQDLTVTGTEPGQVSSRSSSPSVRMITTSGPTSEKPTRSHPWTPDDSTDTN    421 - 490
GSDNSIPMAYLTLDHQLQPLAPCPNSKESMAVFEQHCKMAQEYMKVQTEIALLLQRKQELVAELDQDEKD    491 - 560
QQNTSRLVQEHKKLLDENKSLSTYYQQCKKQLEVIRSQQQKRQGTS                            561 - 606
//

Text Mined References (230)

PMID Year Title