Annotation Detail
Information
- Associated Genes
- DDR2
- Associated Variants
-
DDR2 p.Glu113Lys (p.E113K)
(
ENST00000367922.7,
ENST00000367921.8,
ENST00000446985.6 )
DDR2 p.Thr713Lys (p.T713K) ( ENST00000367922.7, ENST00000367921.8, ENST00000446985.6 )
DDR2 p.Thr713Ile (p.T713I) ( ENST00000446985.6, ENST00000367921.8, ENST00000367922.7 )
DDR2 p.Ile726Arg (p.I726R) ( ENST00000367921.8, ENST00000446985.6, ENST00000367922.7 )
DDR2 p.Arg752Cys (p.R752C) ( ENST00000367921.8, ENST00000367922.7, ENST00000446985.6 )
DDR2 p.Glu113Lys (p.E113K) ( ENST00000367921.8, ENST00000367922.7, ENST00000446985.6 )
DDR2 p.Thr713Lys (p.T713K) ( ENST00000367921.8, ENST00000367922.7, ENST00000446985.6 )
DDR2 p.Thr713Ile (p.T713I) ( ENST00000367921.8, ENST00000367922.7, ENST00000446985.6 )
DDR2 p.Ile726Arg (p.I726R) ( ENST00000367921.8, ENST00000367922.7, ENST00000446985.6 )
DDR2 p.Arg752Cys (p.R752C) ( ENST00000367921.8, ENST00000367922.7, ENST00000446985.6 ) - Associated Disease
- spondylometaepiphyseal dysplasia, short limb-hand type
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.48027144187208
- Year of publication
- NA
Drugs