Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Lys4Gln (p.K4Q)
(
ENST00000549940.5,
ENST00000299314.12,
ENST00000392919.4,
ENST00000549165.1 )
GNPTAB p.Lys4Gln (p.K4Q) ( ENST00000299314.12, ENST00000392919.4, ENST00000549165.1, ENST00000549940.5 ) - Associated Disease
- Mucolipidoses
- Source Database
- DisGeNET
- Description
- The GNPTAB c.10A>C/p.K4Q missense allele results in an intermediate ML II/III with distinct clinical and biochemical characteristics.
- Pubmed
- 24045841
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0172601161595546
- Year of publication
- 2013
Drugs