Annotation Detail
Information
- Associated Genes
- CDAN1
- Associated Variants
-
CDAN1 p.Val373del (p.V373del)
(
ENST00000356231.4 )
CDAN1 p.Val373del (p.V373del) ( ENST00000356231.4 )
CDAN1 p.Pro1130Leu (p.P1130L) ( ENST00000356231.4 )
CDAN1 p.Asp1043Val (p.D1043V) ( ENST00000356231.4 )
CDAN1 p.Asp1043Ala (p.D1043A) ( ENST00000356231.4 )
CDAN1 p.Arg1042Trp (p.R1042W) ( ENST00000356231.4 )
CDAN1 p.Phe868Ile (p.F868I) ( ENST00000356231.4 )
CDAN1 p.Arg714Trp (p.R714W) ( ENST00000356231.4 )
CDAN1 p.Pro672Leu (p.P672L) ( ENST00000356231.4 )
CDAN1 c.1860+5G>A ( ENST00000356231.4 )
CDAN1 p.Asn599Ser (p.N599S) ( ENST00000356231.4 )
CDAN1 p.Phe52= (p.F52=) ( ENST00000356231.4 )
CDAN1 p.Phe52Leu (p.F52L) ( ENST00000356231.4 )
CDAN1 p.Pro1130Leu (p.P1130L) ( ENST00000356231.4 )
CDAN1 p.Asp1043Val (p.D1043V) ( ENST00000356231.4 )
CDAN1 p.Asp1043Ala (p.D1043A) ( ENST00000356231.4 )
CDAN1 p.Arg1042Trp (p.R1042W) ( ENST00000356231.4 )
CDAN1 p.Phe868Ile (p.F868I) ( ENST00000356231.4 )
CDAN1 p.Arg714Trp (p.R714W) ( ENST00000356231.4 )
CDAN1 p.Pro672Leu (p.P672L) ( ENST00000356231.4 )
CDAN1 c.1860+5G>A ( ENST00000356231.4 )
CDAN1 p.Asn599Ser (p.N599S) ( ENST00000356231.4 )
CDAN1 p.Phe52= (p.F52=) ( ENST00000356231.4 )
CDAN1 p.Phe52Leu (p.F52L) ( ENST00000356231.4 ) - Associated Disease
- Congenital dyserythropoietic anemia, type I
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.361628651232482
- Year of publication
- NA
Drugs