Property Summary

NCBI Gene PubMed Count 228
PubMed Score 946.93
PubTator Score 369.63

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Osteosclerosis 31
Abnormal cortical bone morphology 22
Abnormal vision 52
Abnormality of pelvic girdle bone morphology 37
Abnormality of the clavicle 14
Abnormality of the ribs 32
Acquired deformity of finger 3
Alkaline phosphatase serum increased 29
Angle class 2 malocclusion 57
Angle class 3 malocclusion 57
Autosomal recessive predisposition 1442
Bell Palsy 58
Big calvaria 147
Blepharoptosis 231
Broad clavicle 5
Broad flat nasal bridge 236
Broad ribs 12
CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (disorder) 1
Camurati-Engelmann Syndrome 5
Choanal stenosis 11
Class III malocclusion 78
Coarse facial features 108
Concave bridge of nose 195
Conductive hearing loss 123
Congenital anomaly of nose 4
Congenital deafness 185
Contractures of the large joints 5
Cortically dense long tubular bones 1
Cranial nerve palsies 11
Cranial sclerosis 2
Craniofacial hyperostosis 11
Craniofacial osteosclerosis 2
Curved distal phalanges of the hand 2
Deafness 198
Decreased projection of midface 105
Decreased visual acuity, progressive 36
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Diaphyseal thickening 11
Diffuse, symmetrical osteosclerosis 5
Dull intelligence 645
Enlargement of craniofacial bones 11
Enlargement of skull bones 7
Esotropia 31
Excessive growth of skull bones 7
Exophthalmos 112
Facial Paresis 59
Facial diplegia 10
Facial muscle weakness of muscles innervated by CN VII 58
Facial palsy, secondary to cranial hyperostosis 1
Fetal overgrowth 16
Fingernail dysplasia 6
Frontal bossing 157
Generalized overgrowth 16
Headache 37
Hearing Loss, Partial 185
Hyperostosis of cranial vault 7
Hypertrophy of cranial bones 7
Hypertrophy of craniofacial bones 11
Hypertrophy of lower jaw 78
Hypotrophic malar bone 129
Hypotrophic midface 105
Impaired cognition 96
Increased bone density in skeletal bones 5
Increased head circumference 147
Increased serum parathyroid hormone 14
Increased size of cranium 147
Increased size of mandible 78
Increased size of skull 147
Infantile onset 238
Intellectual disability 1016
Intracranial hypertension 32
Low intelligence 645
Malar flattening 129
Malformation of the nose 4
Malocclusion 57
Mandibular hyperplasia 78
Mental Retardation 645
Mental deficiency 645
Mental impairment 95
Midface retrusion 105
Nail dysplasia 52
Narrowing of ear canal 13
Nasal bridge wide 236
Nose deformity 4
Nystagmus 317
Optic Atrophy 242
Optic atrophy from cranial nerve compression 1
Orbital separation excessive 244
Overgrowth 16
Papilledema 11
Poor school performance 645
Progressive disorder 142
Progressive visual loss 36
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Saddle nose 6
Sclerotic scapulae 1
Sensorineural Hearing Loss (disorder) 284
Short stature 531
Simple syndactyly of fingers - first web 9
Small midface 105
Stenosis of external auditory canal 13
Sudden death 16
Tall stature 34
Thick craniofacial bones 11
Thick rib 5
Thick skull bones 7
Thickened cortex of long bones 4
Thickened facial skin with coarse facial features 108
Van Buchem disease 2
Visual field constriction 36
hearing impairment 199
mandibular excess (physical finding) 78
Disease Target Count P-value
psoriasis 6694 7.8e-16
non-small cell lung cancer 2890 1.2e-02
atypical teratoid/rhabdoid tumor 357 4.0e-02
Disease Target Count Z-score Confidence
Osteoporosis 363 6.723 3.4

Expression

  Differential Expression (3)

Disease log2 FC p
atypical teratoid/rhabdoid tumor 1.900 4.0e-02
non-small cell lung cancer 1.003 1.2e-02
psoriasis 1.100 7.8e-16

Gene RIF (217)

AA Sequence

MQLPLALCLVCLLVHTAFRVVEGQGWQAFKNDATEIIPELGEYPEPPPELENNKTMNRAENGGRPPHHPF      1 - 70
ETKDVSEYSCRELHFTRYVTDGPCRSAKPVTELVCSGQCGPARLLPNAIGRGKWWRPSGPDFRCIPDRYR     71 - 140
AQRVQLLCPGGEAPRARKVRLVASCKCKRLTRFHNQSELKDFGTEAARPQKGRKPRPRARSAKANQAELE    141 - 210
NAY                                                                       211 - 213
//

Text Mined References (229)

PMID Year Title