Property Summary

NCBI Gene PubMed Count 77
PubMed Score 115.98
PubTator Score 5959.55

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count
Abnormal skeletal development 60
Abnormal urinary amino-acid findings 38
Abnormally-shaped vertebrae 31
Acquired scoliosis 281
Aminoaciduria 38
Ascites 22
Autosomal recessive predisposition 1442
Broad flat nasal bridge 236
Cardiomegaly 116
Cardiomyopathies 110
Cataract 297
Cerebellar Ataxia 304
Cerebellar Dysmetria 56
Cherry red spot of the macula 7
Clouding of corneal stroma 50
Coarse facial features 108
Congenital pectus carinatum 52
Corneal Opacity 53
Curvature of spine 282
Decreased nerve conduction velocity 35
Decreased visual acuity, progressive 36
Delayed bone age 136
Dull intelligence 645
Electroencephalogram abnormal 101
Epilepsy 792
Facial edema 1
Frontal bossing 157
Full lower lip 64
Gait abnormality 135
Hepatomegaly 285
Hernia 9
Hernia, Inguinal 89
Hydrops Fetalis 21
Hyperkeratosis 50
Hyperreflexia 209
Increased urinary O-linked sialopeptides 2
Increased urinary sialyloligosaccharides 1
Intellectual disability 1016
Large vacuolated foam cells ('NP cells') on bone marrow biopsy 5
Lens Opacities 231
Lipomucopolysaccharidosis 1
Low Vision 174
Low intelligence 645
Mental Retardation 645
Mental deficiency 645
Muscle Weakness 170
Muscle hypotonia 571
Myoclonus 74
Nasal bridge wide 236
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
Nystagmus 317
Osteochondrodysplasias 72
Pfaundler-Hurler Syndrome 12
Poor school performance 645
Progressive visual loss 36
Prominent lower lip 64
Proteinuria 144
Retinal Diseases 55
Seizures 596
Sensorineural Hearing Loss (disorder) 284
Short stature 531
Short thorax 21
Skeletal muscle atrophy 139
Skin Diseases, Vascular 5
Slurred speech 7
Speech Disorders 58
Splenomegaly 190
Stippled epiphyses 28
Thickened facial skin with coarse facial features 108
Tremor 113
Vacuolated lymphocytes 8
Vascular abnormalities restricted to skin 4
Visual Impairment 174
muscle degeneration 139
Disease Target Count Z-score Confidence
Rheumatoid arthritis 1191 0.0 3.0
Type 1 diabetes mellitus 109 0.0 3.0
Vitiligo 73 0.0 3.0
Disease Target Count
Glycoproteinosis 12
Sialidosis type 1 1

Expression

  Differential Expression (6)

Disease log2 FC p
glioblastoma 1.300 9.5e-03
intraductal papillary-mucinous neoplasm ... -1.100 6.6e-03
medulloblastoma, large-cell -1.100 2.8e-04
Multiple myeloma 1.147 1.4e-03
ovarian cancer 1.400 1.1e-04
ulcerative colitis -1.400 1.0e-05

 CSPA Cell Line (3)

Gene RIF (49)

AA Sequence

MTGERPSTALPDRRWGPRILGFWGGCRVWVFAAIFLLLSLAASWSKAENDFGLVQPLVTMEQLLWVSGRQ      1 - 70
IGSVDTFRIPLITATPRGTLLAFAEARKMSSSDEGAKFIALRRSMDQGSTWSPTAFIVNDGDVPDGLNLG     71 - 140
AVVSDVETGVVFLFYSLCAHKAGCQVASTMLVWSKDDGVSWSTPRNLSLDIGTEVFAPGPGSGIQKQREP    141 - 210
RKGRLIVCGHGTLERDGVFCLLSDDHGASWRYGSGVSGIPYGQPKQENDFNPDECQPYELPDGSVVINAR    211 - 280
NQNNYHCHCRIVLRSYDACDTLRPRDVTFDPELVDPVVAAGAVVTSSGIVFFSNPAHPEFRVNLTLRWSF    281 - 350
SNGTSWRKETVQLWPGPSGYSSLATLEGSMDGEEQAPQLYVLYEKGRNHYTESISVAKISVYGTL         351 - 415
//

Text Mined References (79)

PMID Year Title