Property Summary

Ligand Count 45
NCBI Gene PubMed Count 56
PubMed Score 210.12
PubTator Score 125.90

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (4)

Disease Target Count Z-score Confidence
Fucosidosis 10 7.346 3.7
Disease Target Count
Angiokeratoma 9
Abnormality of the abdominal wall 10
Absent/hypoplastic coccyx 1
Absent/hypoplastic paranasal sinuses 5
Acquired scoliosis 281
Anhidrosis 23
Anterior beaking of lumbar vertebrae 4
Anterior beaking of thoracic vertebrae 1
Autosomal recessive predisposition 1442
Barrel chest 12
Brachycephaly 88
Broad chest 8
Broad cranium shape 88
Bulging forehead 66
Bushy eyebrows 49
Cardiomegaly 116
Cerebral atrophy 178
Cervical platyspondyly 1
Clouding of corneal stroma 50
Coarse facial features 108
Cognitive delay 608
Congenital deafness 185
Contracture 96
Contracture of joint 93
Corneal Opacity 53
Coxa valga 22
Coxa valga deformity 22
Curvature of spine 282
Deafness 198
Decreased muscle mass 28
Degenerative brain disorder 100
Dry skin 75
Dull intelligence 645
Elevated sweat chloride 2
Epilepsy 792
Failure to gain weight 365
Flexion contracture 93
Flexion contractures of joints 93
Frontal bossing 157
Fucosidase Deficiency Disease 1
Full lower lip 64
Gallbladder anomaly congenital 1
Global developmental delay 608
Hearing Loss, Partial 185
Hepatomegaly 285
Hernia 9
Hyperhidrosis disorder 81
Hyperkeratosis, generalized 14
Hyperkyphosis 111
Hypothyroidism 122
Increased sweating 81
Intellectual disability 1016
Kyphosis deformity of spine 114
Lipoatrophy 19
Low intelligence 645
Lumbar lordosis 35
Macroglossia 65
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Mucopolysacchariduria 3
Muscle hypotonia 571
Oligosacchariduria 1
Orbital separation excessive 244
Pediatric failure to thrive 365
Peripheral Neuropathy 134
Pfaundler-Hurler Syndrome 12
Polyneuropathy 64
Poor school performance 645
Prominent forehead 66
Prominent lower lip 64
Recurrent respiratory infections 141
Seizures 596
Severe mental retardation (I.Q. 20-34) 99
Shield chest 8
Short stature 531
Skin Diseases, Vascular 5
Spastic Quadriplegia 42
Splenomegaly 190
Supratentorial atrophy 94
Sweating 81
Thickened facial skin with coarse facial features 108
Tortuosity of conjunctival vessels 2
Vacuolated lymphocytes 8
Vascular abnormalities restricted to skin 4
Wide nose 35
Wide skull shape 88
Xerosis 75
hearing impairment 199
Disease Target Count Z-score Confidence
Laryngotracheitis 10 4.29 2.1

Expression

  Differential Expression (13)

Disease log2 FC p
diabetes mellitus -1.300 1.0e-02
esophageal adenocarcinoma 1.100 1.9e-02
glioblastoma 1.800 2.5e-02
intraductal papillary-mucinous adenoma (... 1.200 1.4e-03
intraductal papillary-mucinous carcinoma... 1.100 1.1e-02
invasive ductal carcinoma 1.050 1.3e-02
lung cancer -1.400 3.8e-04
malignant mesothelioma -5.500 2.2e-09
Multiple myeloma 1.042 9.3e-04
osteosarcoma -1.844 5.6e-04
ovarian cancer -1.200 3.3e-06
ulcerative colitis -1.200 2.0e-08
Waldenstrons macroglobulinemia 1.042 7.5e-03

 GO Function (1)

 OMIM Phenotype (1)

Protein-protein Interaction (7)

Gene RIF (18)

AA Sequence

MRAPGMRSRPAGPALLLLLLFLGAAESVRRAQPPRRYTPDWPSLDSRPLPAWFDEAKFGVFIHWGVFSVP      1 - 70
AWGSEWFWWHWQGEGRPQYQRFMRDNYPPGFSYADFGPQFTARFFHPEEWADLFQAAGAKYVVLTTKHHE     71 - 140
GFTNWPSPVSWNWNSKDVGPHRDLVGELGTALRKRNIRYGLYHSLLEWFHPLYLLDKKNGFKTQHFVSAK    141 - 210
TMPELYDLVNSYKPDLIWSDGEWECPDTYWNSTNFLSWLYNDSPVKDEVVVNDRWGQNCSCHHGGYYNCE    211 - 280
DKFKPQSLPDHKWEMCTSIDKFSWGYRRDMALSDVTEESEIISELVQTVSLGGNYLLNIGPTKDGLIVPI    281 - 350
FQERLLAVGKWLSINGEAIYASKPWRVQWEKNTTSVWYTSKGSAVYAIFLHWPENGVLNLESPITTSTTK    351 - 420
ITMLGIQGDLKWSTDPDKGLFISLPQLPPSAVPAEFAWTIKLTGVK                            421 - 466
//

Text Mined References (60)

PMID Year Title