Annotation Detail
Information
- Associated Genes
- PGK1
- Associated Variants
-
IMPDH1 p.Asp311Asn (p.D311N)
(
ENST00000338791.11,
ENST00000348127.11,
ENST00000354269.9,
ENST00000419067.6,
ENST00000470772.5,
ENST00000480861.5,
ENST00000496200.5 )
PGK1 p.Ile253Thr (p.I253T) ( ENST00000373316.5, ENST00000644362.1 )
IMPDH1 p.Asp311Asn (p.D311N) ( ENST00000338791.11, ENST00000348127.11, ENST00000354269.9, ENST00000419067.6, ENST00000470772.5, ENST00000480861.5, ENST00000496200.5 )
PGK1 p.Ile253Thr (p.I253T) ( ENST00000373316.5, ENST00000644362.1 ) - Associated Disease
- Deficiency of phosphoglycerate kinase
- Source Database
- DisGeNET
- Description
- An inosine monophosphate dehydrogenase 1 (IMPDH1) pseudogene carries a c.676G>A mutation that produces a p.Asp226Asn substitution that causes the retinitis pigmentosa 10 (RP10) form of adRP; and a phosphoglycerate kinase 1 (PGK1) pseudogene (PGK1P1) carries a c.837T>C mutation that produces a p.Ile252Thr substitution that is associated with a phosphoglycerate kinase deficiency.
- Pubmed
- 16671097
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.120814325616241
- Year of publication
- 2006
Drugs