Property Summary

Ligand Count 6
NCBI Gene PubMed Count 102
PubMed Score 439.37
PubTator Score 3591.65

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Abnormality of blood and blood-forming tissues 10
Abnormality of the face 10
Abnormality of the haematopoietic system 10
Abnormality of the liver 21
Abnormality of the spleen 13
Abnormality of the urinary system 21
Acquired scoliosis 281
Anterior beaking of lumbar vertebrae 4
Aortic valve stenosis 28
Autosomal recessive predisposition 1442
Beaked vertebral bodies 9
Beta-galactosidase deficiency in fibroblasts and white blood cells 2
Bullet vertebral body 17
Cardiomyopathy, Dilated 83
Cerebellar Ataxia 304
Cerebral atrophy 178
Cervical myelopathy 6
Cervical subluxation 2
Cherry red spot of the macula 7
Class III malocclusion 78
Cloudy cornea 33
Coarse facial features 108
Congenital anomaly of face 56
Congenital deafness 185
Congestive heart failure 113
Constricted iliac wings 2
Contact Dermatitis 81
Corneal stromal opacities 33
Coxa valga 22
Coxa valga deformity 22
Curvature of spine 282
Deafness 198
Death in early childhood 82
Death in infancy 82
Decreased beta-galactosidase activity (leukocyte, fibroblast, plasma) 2
Degenerative brain disorder 100
Dental caries 164
Depressed nasal ridge 51
Developmental arrest 4
Diffuse cerebral atrophy 8
Dilated ventricles (finding) 121
Disorder of face 10
Dull intelligence 645
Dwarfism 37
Dystonia 164
Dystonic disease 106
Epilepsies, Myoclonic 32
Epiphyseal deformities of tubular bones 2
Fabry disease 11
Flared iliac wings 13
Flaring of rib cage 2
Frontal bossing 157
Gait abnormality 135
Gangliosidosis, Generalized GM1, Type 1 (disorder) 1
Gangliosidosis, Generalized GM1, Type 2 1
Gangliosidosis, Generalized GM1, Type 3 1
Generalized myoclonic seizures 30
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Grayish enamel 2
Hearing Loss, Partial 185
Heart failure 162
Heart valve disease 39
Hematological Disease 18
Hepatomegaly 285
Hernia, Inguinal 89
Hyperkyphosis 111
Hypertrichosis 46
Hypertrophic Cardiomyopathy 117
Hypertrophy of lower jaw 78
Hypoplastic acetabulae 3
Hypoplastic vertebral bodies 7
Increased size of mandible 78
Intellectual disability 1016
Intimal thickening in the coronary arteries 1
Joint laxity 54
Joint stiffness 84
Keratan sulfate excretion in urine 3
Knee joint valgus deformity 56
Kyphosis deformity of spine 114
Liver diseases 87
Lordosis 54
Low intelligence 645
Macrostomia 72
Mandibular hyperplasia 78
Mental Retardation 645
Mental deficiency 645
Metaphyseal widening 22
Mild Mental Retardation 70
Mucopolysaccharidosis type IVB 1
Myoclonic Epilepsies, Progressive 44
Neurogenic Muscular Atrophy 139
Neurogenic muscle atrophy, especially in the lower limbs 139
ODONTOID HYPOPLASIA 16
Optic Atrophy 242
Orbital separation excessive 244
Osteoporosis 363
Ovoid vertebral bodies 17
Platyspondyly 56
Pointed proximal second through fifth metacarpals 2
Poor school performance 645
Progressive psychomotor deterioration 2
Prominent sternum 4
Recurrent upper respiratory tract infection 21
Restrictive lung disease 11
Restrictive ventilatory defect 11
Rotting teeth 73
Sea-Blue Histiocyte Syndrome 7
Short neck 140
Short stature 531
Short-trunked dwarfism 13
Skeletal muscle atrophy 139
Slurred speech 7
Spastic Quadriplegia 42
Splenomegaly 190
Supratentorial atrophy 94
Thick rib 5
Thickened facial skin with coarse facial features 108
Ulnar deviation of the wrist 8
VALVULAR ABNORMALITY 12
Vacuolated lymphocytes 8
Wedging of vertebra 9
Widely spaced teeth 31
hearing impairment 199
mandibular excess (physical finding) 78
muscle degeneration 139
Disease Target Count Z-score Confidence
Kidney cancer 2613 0.0 0.6
Disease Target Count Z-score Confidence
Atopic dermatitis 952 0.0 3.0
Carcinoma 11493 0.0 2.4
Liver cancer 604 0.0 2.4
Disease Target Count Z-score Confidence
Gangliosidosis 20 7.637 3.8
Mucopolysaccharidosis 26 4.137 2.1

Expression

  Differential Expression (9)

Disease log2 FC p
astrocytoma 1.800 1.3e-02
atypical teratoid / rhabdoid tumor 1.300 2.5e-04
diabetes mellitus -1.200 8.2e-03
glioblastoma 1.800 6.5e-03
Multiple myeloma 1.426 1.8e-03
ovarian cancer -1.300 6.8e-06
pancreatic ductal adenocarcinoma liver m... -1.409 2.0e-02
pediatric high grade glioma 1.200 3.5e-06
tuberculosis 1.300 2.3e-06

Gene RIF (47)

AA Sequence

MPGFLVRILPLLLVLLLLGPTRGLRNATQRMFEIDYSRDSFLKDGQPFRYISGSIHYSRVPRFYWKDRLL      1 - 70
KMKMAGLNAIQTYVPWNFHEPWPGQYQFSEDHDVEYFLRLAHELGLLVILRPGPYICAEWEMGGLPAWLL     71 - 140
EKESILLRSSDPDYLAAVDKWLGVLLPKMKPLLYQNGGPVITVQVENEYGSYFACDFDYLRFLQKRFRHH    141 - 210
LGDDVVLFTTDGAHKTFLKCGALQGLYTTVDFGTGSNITDAFLSQRKCEPKGPLINSEFYTGWLDHWGQP    211 - 280
HSTIKTEAVASSLYDILARGASVNLYMFIGGTNFAYWNGANSPYAAQPTSYDYDAPLSEAGDLTEKYFAL    281 - 350
RNIIQKFEKVPEGPIPPSTPKFAYGKVTLEKLKTVGAALDILCPSGPIKSLYPLTFIQVKQHYGFVLYRT    351 - 420
TLPQDCSNPAPLSSPLNGVHDRAYVAVDGIPQGVLERNNVITLNITGKAGATLDLLVENMGRVNYGAYIN    421 - 490
DFKGLVSNLTLSSNILTDWTIFPLDTEDAVRSHLGGWGHRDSGHHDEAWAHNSSNYTLPAFYMGNFSIPS    491 - 560
GIPDLPQDTFIQFPGWTKGQVWINGFNLGRYWPARGPQLTLFVPQHILMTSAPNTITVLELEWAPCSSDD    561 - 630
PELCAVTFVDRPVIGSSVTYDHPSKPVEKRLMPPPPQKNKDSWLDHV                           631 - 677
//

Text Mined References (108)

PMID Year Title