Annotation Detail
Information
- Associated Genes
- GNPTAB
- Associated Variants
-
GNPTAB p.Leu257= (p.L257=)
(
ENST00000299314.12,
ENST00000549940.5 )
GNPTAB p.Leu257= (p.L257=) ( ENST00000299314.12, ENST00000549940.5 ) - Associated Disease
- Mucolipidosis III Alpha Beta, Atypical
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.12
- Year of publication
- NA
Drugs