Annotation Detail
Information
- Associated Genes
- ABCA4
- Associated Variants
-
ABCA4 p.Leu2241= (p.L2241=)
(
ENST00000370225.4 )
ABCA4 p.Leu2241Val (p.L2241V) ( ENST00000370225.4 )
ABCA4 p.Leu1970Phe (p.L1970F) ( ENST00000370225.4 )
ABCA4 p.Ile1562Thr (p.I1562T) ( ENST00000370225.4 )
ABCA4 p.Thr1537Met (p.T1537M) ( ENST00000370225.4 )
ABCA4 p.Glu471Lys (p.E471K) ( ENST00000649773.1, ENST00000370225.4 )
ABCA4 p.Leu2241= (p.L2241=) ( ENST00000370225.4 )
ABCA4 p.Leu2241Val (p.L2241V) ( ENST00000370225.4 )
ABCA4 p.Leu1970Phe (p.L1970F) ( ENST00000370225.4 )
ABCA4 p.Ile1562Thr (p.I1562T) ( ENST00000370225.4 )
ABCA4 p.Thr1537Met (p.T1537M) ( ENST00000370225.4 )
ABCA4 p.Glu471Lys (p.E471K) ( ENST00000370225.4, ENST00000649773.1 ) - Associated Disease
- STARGARDT DISEASE 1 (disorder)
- Source Database
- DisGeNET
- Description
- We have studied 144 patients with STGD and 220 unaffected individuals ascertained from the German population, to complete a comprehensive, population-specific survey of the sequence variation in the ABCA4 gene.
- Pubmed
- 10958763
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.442442976848723
- Year of publication
- 2000
Drugs