Property Summary

Ligand Count 3
NCBI Gene PubMed Count 30
PubMed Score 152.92
PubTator Score 48.91

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Disease Target Count Z-score Confidence
alpha-mannosidosis 8 8.595 4.0
Glomerulonephritis, IGA 34 0.0 0.0
Disease Target Count
Intellectual disability 1016
Abnormal visual pursuit 14
Abnormality of the rib cage 12
Ataxia, Appendicular 25
Atrophy of cerebellum 103
Autosomal recessive predisposition 1442
Babinski Reflex 100
Big calvaria 147
Broad forehead 59
Bushy eyebrows 49
Cerebellar degeneration 103
Class III malocclusion 78
Coarse facial features 108
Cognitive delay 608
Congenital Epicanthus 177
Congenital pectus carinatum 52
Decreased antibody level in blood 35
Decreased projection of midface 105
Depressed nasal ridge 51
Dull intelligence 645
Dysarthria 192
Femoral bowing 20
Flat back of the head 26
Flat occiput 26
Frontal bossing 157
Gait Ataxia 51
Gingival Hyperplasia 34
Gingival Hypertrophy 34
Gingival Overgrowth 36
Global developmental delay 608
Growth delay 114
Growth failure 114
Growth retardation 115
Hepatomegaly 285
Hernia, Inguinal 89
Hyperreflexia 209
Hypertrichosis 46
Hypertrophy of lower jaw 78
Hypogammaglobulinemia 35
Hypotrophic malar bone 129
Hypotrophic midface 105
IGA Glomerulonephritis 50
Impaired smooth pursuit 14
Increased head circumference 147
Increased size of cranium 147
Increased size of mandible 78
Increased size of skull 147
Increased susceptibility to bacterial infections 42
Increased thickness of cranium 17
Increased vertebral height 4
Infratentorial atrophy 103
Large auricle 87
Large dysplastic ears 87
Large pinnae 87
Large prominent ears 87
Large protruding ears 87
Large, floppy ears 87
Low anterior hairline 30
Low intelligence 645
Macroglossia 65
Macrotia 87
Malar flattening 129
Mandibular hyperplasia 78
Mental Retardation 645
Mental and motor retardation 608
Mental deficiency 645
Midface retrusion 105
Muscle Spasticity 195
Muscle hypotonia 571
Nystagmus 317
Pfaundler-Hurler Syndrome 12
Poor growth 114
Poor school performance 645
Progressive retinal degeneration 1
Prone to bacterial infection 42
Recurrent bacterial infection 42
Sensorineural Hearing Loss (disorder) 284
Small midface 105
Spinocerebellar tract disease in lower limbs 1
Splenomegaly 190
Spondylolisthesis 22
Thickened calvaria 17
Thickened facial skin with coarse facial features 108
Thoracolumbar gibbus deformity 3
Vacuolated lymphocytes 8
Very poor growth 114
Widely spaced teeth 31
mandibular excess (physical finding) 78
Disease Target Count P-value
lung carcinoma 2843 1.1e-15
diabetes mellitus 1728 8.1e-03
Disease Target Count Z-score Confidence
Carcinoma 11493 0.0 0.8
Disease Target Count Z-score Confidence
beta-mannosidosis 9 4.521 2.3
Tularemia 23 3.529 1.8
Disease Target Count
Mannosidosis, Alpha B, Lysosomal 1

Expression

  Differential Expression (2)

Disease log2 FC p
diabetes mellitus -1.200 8.1e-03
lung carcinoma -1.200 1.1e-15

Gene RIF (28)

AA Sequence

MGAYARASGVCARGCLDSAGPWTMSRALRPPLPPLCFFLLLLAAAGARAGGYETCPTVQPNMLNVHLLPH      1 - 70
THDDVGWLKTVDQYFYGIKNDIQHAGVQYILDSVISALLADPTRRFIYVEIAFFSRWWHQQTNATQEVVR     71 - 140
DLVRQGRLEFANGGWVMNDEAATHYGAIVDQMTLGLRFLEDTFGNDGRPRVAWHIDPFGHSREQASLFAQ    141 - 210
MGFDGFFFGRLDYQDKWVRMQKLEMEQVWRASTSLKPPTADLFTGVLPNGYNPPRNLCWDVLCVDQPLVE    211 - 280
DPRSPEYNAKELVDYFLNVATAQGRYYRTNHTVMTMGSDFQYENANMWFKNLDKLIRLVNAQQAKGSSVH    281 - 350
VLYSTPACYLWELNKANLTWSVKHDDFFPYADGPHQFWTGYFSSRPALKRYERLSYNFLQVCNQLEALVG    351 - 420
LAANVGPYGSGDSAPLNEAMAVLQHHDAVSGTSRQHVANDYARQLAAGWGPCEVLLSNALARLRGFKDHF    421 - 490
TFCQQLNISICPLSQTAARFQVIVYNPLGRKVNWMVRLPVSEGVFVVKDPNGRTVPSDVVIFPSSDSQAH    491 - 560
PPELLFSASLPALGFSTYSVAQVPRWKPQARAPQPIPRRSWSPALTIENEHIRATFDPDTGLLMEIMNMN    561 - 630
QQLLLPVRQTFFWYNASIGDNESDQASGAYIFRPNQQKPLPVSRWAQIHLVKTPLVQEVHQNFSAWCSQV    631 - 700
VRLYPGQRHLELEWSVGPIPVGDTWGKEVISRFDTPLETKGRFYTDSNGREILERRRDYRPTWKLNQTEP    701 - 770
VAGNYYPVNTRIYITDGNMQLTVLTDRSQGGSSLRDGSLELMVHRRLLKDDGRGVSEPLMENGSGAWVRG    771 - 840
RHLVLLDTAQAAAAGHRLLAEQEVLAPQVVLAPGGGAAYNLGAPPRTQFSGLRRDLPPSVHLLTLASWGP    841 - 910
EMVLLRLEHQFAVGEDSGRNLSAPVTLNLRDLFSTFTITRLQETTLVANQLREAASRLKWTTNTGPTPHQ    911 - 980
TPYQLDPANITLEPMEIRTFLASVQWKEVDG                                           981 - 1011
//

Text Mined References (35)

PMID Year Title