Property Summary

Ligand Count 3
NCBI Gene PubMed Count 58
PubMed Score 1155.30
PubTator Score 234.48

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (8)

Disease Target Count
Abnormality of the hip bone 16
Abnormality of the pleura 1
Acquired scoliosis 281
Anterior beaking of lower thoracic vertebrae 1
Anterior beaking of lumbar vertebrae 4
Ascites 22
Autosomal recessive predisposition 1442
Big calvaria 147
Clouding of corneal stroma 50
Coarse facial features 108
Congenital deafness 185
Congenital pectus carinatum 52
Contracture 96
Contracture of joint 93
Corneal Opacity 53
Curvature of spine 282
Deafness 198
Dermatan sulfate excretion in urine 3
Diaphyseal thickening 11
Dull intelligence 645
Flat face 52
Flexion contracture 93
Flexion contractures of joints 93
Hearing Loss, Partial 185
Heart valve disease 39
Hepatitis 67
Hepatomegaly 285
Hernia, Inguinal 89
Hip Dysplasia 3
Hirsutism 47
Hydrocephalus 152
Hydrops Fetalis 21
Increased head circumference 147
Increased size of cranium 147
Increased size of skull 147
Intellectual disability 1016
J-shaped hypophysial fossa 6
J-shaped sella turcica 6
Joint stiffness 84
Low intelligence 645
Lymphatic obstruction 21
Lymphedema 42
Mental Retardation 645
Mental deficiency 645
Metatarsus Varus 24
Mucopolysacchariduria 3
Muscle hypotonia 571
Narrow sacrosciatic notch 6
Nerve Degeneration 121
Neuro-degenerative disease 43
Neurodegenerative Disorders 79
ODONTOID HYPOPLASIA 16
Omega shaped hypophysial fossa 6
Onset of lymphedema around puberty 21
Pfaundler-Hurler Syndrome 12
Platyspondyly 56
Pointed proximal metacarpals 1
Poor school performance 645
Postnatal growth retardation 57
Recurrent respiratory infections 141
Short neck 140
Short stature 531
Splenomegaly 190
Stippled epiphyses 28
Thickened facial skin with coarse facial features 108
Thoracolumbar gibbus deformity 3
Toeing-in 24
Umbilical hernia 93
Urinary glycosaminoglycan excretion 2
VALVULAR ABNORMALITY 12
hearing impairment 199
nervous system disorder 53
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.7
Disease Target Count Z-score Confidence
Sly syndrome 4 0.0 5.0
Disease Target Count Z-score Confidence
Mucopolysaccharidosis 26 6.633 3.3
Disease Target Count Z-score Confidence
Cancer 2499 3.72 1.9
Periodontal disease 40 3.213 1.6

Expression

  Differential Expression (12)

Disease log2 FC p
astrocytoma 1.600 1.7e-02
dermatomyositis 1.100 3.9e-03
Duchenne muscular dystrophy 1.009 8.6e-08
esophageal adenocarcinoma 1.100 1.9e-02
glioblastoma 1.200 2.7e-04
group 3 medulloblastoma 1.500 1.1e-03
intraductal papillary-mucinous carcinoma... 1.100 2.3e-03
juvenile dermatomyositis 1.059 1.1e-12
Multiple myeloma 1.486 1.8e-03
osteosarcoma -2.026 1.1e-05
ovarian cancer -1.800 2.7e-11
pediatric high grade glioma 1.100 3.2e-03

 GWAS Trait (1)

Protein-protein Interaction (2)

Gene RIF (16)

AA Sequence

MARGSAVAWAALGPLLWGCALGLQGGMLYPQESPSRECKELDGLWSFRADFSDNRRRGFEEQWYRRPLWE      1 - 70
SGPTVDMPVPSSFNDISQDWRLRHFVGWVWYEREVILPERWTQDLRTRVVLRIGSAHSYAIVWVNGVDTL     71 - 140
EHEGGYLPFEADISNLVQVGPLPSRLRITIAINNTLTPTTLPPGTIQYLTDTSKYPKGYFVQNTYFDFFN    141 - 210
YAGLQRSVLLYTTPTTYIDDITVTTSVEQDSGLVNYQISVKGSNLFKLEVRLLDAENKVVANGTGTQGQL    211 - 280
KVPGVSLWWPYLMHERPAYLYSLEVQLTAQTSLGPVSDFYTLPVGIRTVAVTKSQFLINGKPFYFHGVNK    281 - 350
HEDADIRGKGFDWPLLVKDFNLLRWLGANAFRTSHYPYAEEVMQMCDRYGIVVIDECPGVGLALPQFFNN    351 - 420
VSLHHHMQVMEEVVRRDKNHPAVVMWSVANEPASHLESAGYYLKMVIAHTKSLDPSRPVTFVSNSNYAAD    421 - 490
KGAPYVDVICLNSYYSWYHDYGHLELIQLQLATQFENWYKKYQKPIIQSEYGAETIAGFHQDPPLMFTEE    491 - 560
YQKSLLEQYHLGLDQKRRKYVVGELIWNFADFMTEQSPTRVLGNKKGIFTRQRQPKSAAFLLRERYWKIA    561 - 630
NETRYPHSVAKSQCLENSLFT                                                     631 - 651
//

Text Mined References (70)

PMID Year Title