Property Summary

NCBI Gene PubMed Count 43
PubMed Score 431.07
PubTator Score 122.48

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormality of the pons 1
Absence of septum pellucidum 13
Absent speech 43
Anemia, Hemolytic 55
Anteverted nostril 191
Atrial Septal Defects 85
Axial hypotonia 46
Big calvaria 147
Birth length greater than 97th percentile 5
Blindness, Cortical 24
Bone marrow hypocellularity 20
Byzanthine arch palate 194
Central hypotonia 5
Cerebellar Hypoplasia 61
Cerebral atrophy 178
Coarse facial features 108
Concave bridge of nose 195
Congenital deafness 185
Contracture 96
Contracture of joint 93
Cortical visual impairment 24
Deafness 198
Death in early childhood 82
Death in infancy 82
Decreased size of teeth 62
Decreased width of tooth 59
Delayed myelination 22
Depressed nasal bridge 195
Depressed nasal root/bridge 195
Downturned corners of mouth 48
Embolism and Thrombosis 6
Epilepsies, Myoclonic 32
Epileptic encephalopathy 26
Flexion contracture 93
Flexion contractures of joints 93
Generalized myoclonic seizures 30
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Hearing Loss, Partial 185
Hyperreflexia 209
Hypoplasia of corpus callosum 90
Hypoplastic mandible condyle 275
Hypotrophic malar bone 129
Hypsarrhythmia 25
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Large bregma sutures 46
Large fontanelle 46
Large for gestational age 11
Large, late-closing fontanelle 46
Malar flattening 129
Mandibular hypoplasia 275
Microdontia (disorder) 59
Micrognathism 275
Micronychia (disorder) 24
Microstomia 78
Myoclonic Epilepsies, Progressive 44
Neuronal loss 25
Olfactory lobe absence 6
Overfolded helix 24
Postnatal microcephaly 24
Prominent back of the head 21
Prominent occiput 21
Short neck 140
Somatic mutation 61
Thickened facial skin with coarse facial features 108
Thromboembolism 15
Thrombophilia 38
Triangular mouth 6
Upward slant of palpebral fissure 75
Wide bregma sutures 46
Widely spaced teeth 31
X- linked recessive 110
hearing impairment 199
nonverbal 43
Disease Target Count Z-score Confidence
Simpson-Golabi-Behmel syndrome 19 0.0 5.0
Disease Target Count Z-score Confidence
Epilepsy 792 0.0 4.0
Disease Target Count Z-score Confidence
Proteinuria 144 6.179 3.1
Anemia 365 5.96 3.0
IGA Glomerulonephritis 50 4.539 2.3

Expression

  Differential Expression (6)

Disease log2 FC p
aldosterone-producing adenoma -1.383 3.3e-02
chronic rhinosinusitis -1.177 8.9e-03
interstitial lung disease -2.300 1.1e-03
intraductal papillary-mucinous neoplasm ... 1.400 2.3e-02
lung cancer -2.700 5.7e-04
lung carcinoma -1.100 3.4e-06

Protein-protein Interaction (2)

Gene RIF (20)

AA Sequence

MACRGGAGNGHRASATLSRVSPGSLYTCRTRTHNICMVSDFFYPNMGGVESHIYQLSQCLIERGHKVIIV      1 - 70
THAYGNRKGIRYLTSGLKVYYLPLKVMYNQSTATTLFHSLPLLRYIFVRERVTIIHSHSSFSAMAHDALF     71 - 140
HAKTMGLQTVFTDHSLFGFADVSSVLTNKLLTVSLCDTNHIICVSYTSKENTVLRAALNPEIVSVIPNAV    141 - 210
DPTDFTPDPFRRHDSITIVVVSRLVYRKGIDLLSGIIPELCQKYPDLNFIIGGEGPKRIILEEVRERYQL    211 - 280
HDRVRLLGALEHKDVRNVLVQGHIFLNTSLTEAFCMAIVEAASCGLQVVSTRVGGIPEVLPENLIILCEP    281 - 350
SVKSLCEGLEKAIFQLKSGTLPAPENIHNIVKTFYTWRNVAERTEKVYDRVSVEAVLPMDKRLDRLISHC    351 - 420
GPVTGYIFALLAVFNFLFLIFLRWMTPDSIIDVAIDATGPRGAWTNNYSHSKRGGENNEISETR          421 - 484
//

Text Mined References (50)

PMID Year Title