Annotation Detail
Information
- Associated Genes
- COL2A1
- Associated Variants
-
COL2A1 c.1266+1delG
(
ENST00000380518.8,
ENST00000337299.7 )
COL2A1 c.1266+1delG ( ENST00000337299.7, ENST00000380518.8 )
COL2A1 p.Gly303Asp (p.G303D) ( ENST00000380518.8, ENST00000337299.7 )
COL2A1 p.Gly303Asp (p.G303D) ( ENST00000337299.7, ENST00000380518.8 ) - Associated Disease
- Kniest dysplasia
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- CLINVAR
- DisGENET score for the Gene Disease association
- 0.482714418720803
- Year of publication
- NA
Drugs