Annotation Detail
Information
- Associated Genes
- NEU1
- Associated Variants
-
GLB1 p.Trp509Cys (p.W509C)
(
ENST00000307363.10,
ENST00000307377.12,
ENST00000399402.7 )
GLB1 p.Arg482His (p.R482H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Trp273Leu (p.W273L) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
NEU1 p.Gly243Arg (p.G243R) ( ENST00000375631.5 )
NEU1 p.Val217Met (p.V217M) ( ENST00000375631.5 )
GLB1 p.Trp509Cys (p.W509C) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Arg482His (p.R482H) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
GLB1 p.Trp273Leu (p.W273L) ( ENST00000307363.10, ENST00000307377.12, ENST00000399402.7 )
NEU1 p.Gly243Arg (p.G243R) ( ENST00000375631.5 )
NEU1 p.Val217Met (p.V217M) ( ENST00000375631.5 ) - Associated Disease
- Type I Mucolipidosis
- Source Database
- DisGeNET
- Description
- Apparently normal elastogenesis and EBP mRNA expression were observed for fibroblasts from Morquio B disease cases with the GLB1 gene alleles (W273L/W273L, W273L/R482H and W273L/W509C substitutions, respectively), a galactosialidosis case with the PPCA allele (IVS7+3A/IVS7+3A) and a sialidosis case with the NEU1 allele (V217M/G243R) as well as normal subject.
- Pubmed
- 16538002
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.125971721185767
- Year of publication
- 2006
Drugs