Annotation Detail
Information
- Associated Genes
- ARG1
- Associated Variants
-
ARG1 p.Ile11Thr (p.I11T)
(
ENST00000368087.8,
ENST00000672233.1,
ENST00000673427.1,
ENST00000356962.2 )
ARG1 p.Ile11Thr (p.I11T) ( ENST00000356962.2, ENST00000368087.8, ENST00000672233.1, ENST00000673427.1 ) - Associated Disease
- hyperargininemia
- Source Database
- DisGeNET
- Description
- Analysis of novel ARG1 mutations causing hyperargininemia and correlation with arginase I activity in erythrocytes.
- Pubmed
- 22959135
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.563257302464964
- Year of publication
- 2012
Drugs