Property Summary

NCBI Gene PubMed Count 32
PubMed Score 273.33
PubTator Score 70.21

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (7)

Disease Target Count
Abnormality of the cranial nerves 7
Abnormality of the metaphyses 48
Aplasia/Hypoplasia of the skin 16
Autosomal recessive predisposition 1442
Big calvaria 147
Bunion 26
Cerebral calcification 43
Congenital Camptodactyly 40
Congenital Heart Defects 58
Congenital clinodactyly 57
Congenital deafness 185
Cranial nerve abnormality 7
Craniofacial hyperostosis 11
Curvature of digit 57
Deafness 198
Defective tooth enamel 31
Delayed Puberty 97
Depressive disorder 409
Developmental regression 95
Diabetes Mellitus, Insulin-Dependent 48
Dull intelligence 645
Dystrophic tooth enamel 31
Enamel abnormalities 31
Enlargement of craniofacial bones 11
Episcleritis 3
Exophthalmos 112
Fever 138
Flexion contracture - elbow 32
Frequent fractures 53
Hallux Valgus 26
Hearing Loss, Partial 185
Hepatosplenomegaly 22
Highly variable clinical phenotype 150
Highly variable phenotype and severity 150
Highly variable phenotype, even within families 150
Hypertrophy of craniofacial bones 11
Hypoplastic vertebral bodies 7
Increased fracture rate 53
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 1016
Irregular vertebral endplates 16
Isolated somatotropin deficiency 30
Late tooth eruption 61
Loss of developmental milestones 95
Low intelligence 645
Lymphadenopathy 62
Mental Depression 333
Mental Retardation 645
Mental deficiency 645
Mental deterioration in childhood 95
Neurodevelopmental regression 95
Nystagmus 317
Optic Atrophy 242
Orbital separation excessive 244
Osteosclerosis 31
Phenotypic variability 150
Platyspondyly 56
Poor school performance 645
Primary hypogonadism 37
Prominent eyes 96
Prominent globes 96
Protruding eyes 96
Psychomotor regression 95
Psychomotor regression beginning in infancy 95
Psychomotor regression in infants 95
Psychomotor regression, progressive 95
Rough bone trabeculation 11
Scleroderma 7
Scleroderma-like secondary cutaneous sclerosis 7
Sensorineural Hearing Loss (disorder) 284
Short stature 531
Sinus histiocytosis 1
Small testicle 75
Splenomegaly 190
Stiff skin 3
Thick craniofacial bones 11
Varying degree of multiple fractures 53
Ventricular Septal Defects 119
diabetes mellitus 1728
hearing impairment 199
Disease Target Count P-value
interstitial cystitis 2312 2.9e-04
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Systemic lupus erythematosus 194 0.0 1.2

Expression

  Differential Expression (1)

Disease log2 FC p
interstitial cystitis -1.100 2.9e-04

Gene RIF (22)

AA Sequence

MAVVSEDDFQHSSNSTYRTTSSSLRADQEALLEKLLDRPPPGLQRPEDRFCGTYIIFFSLGIGSLLPWNF      1 - 70
FITAKEYWMFKLRNSSSPATGEDPEGSDILNYFESYLAVASTVPSMLCLVANFLLVNRVAVHIRVLASLT     71 - 140
VILAIFMVITALVKVDTSSWTRGFFAVTIVCMVILSGASTVFSSSIYGMTGSFPMRNSQALISGGAMGGT    141 - 210
VSAVASLVDLAASSDVRNSALAFFLTATVFLVLCMGLYLLLSRLEYARYYMRPVLAAHVFSGEEELPQDS    211 - 280
LSAPSVASRFIDSHTPPLRPILKKTASLGFCVTYVFFITSLIYPAICTNIESLNKGSGSLWTTKFFIPLT    281 - 350
TFLLYNFADLCGRQLTAWIQVPGPNSKALPGFVLLRTCLIPLFVLCNYQPRVHLKTVVFQSDVYPALLSS    351 - 420
LLGLSNGYLSTLALLYGPKIVPRELAEATGVVMSFYVCLGLTLGSACSTLLVHLI                   421 - 475
//

Text Mined References (37)

PMID Year Title