Annotation Detail
Information
- Associated Genes
- ERCC5
- Associated Variants
-
ERCC5 MUTATION
ERCC5 MUTATION - Associated Disease
- Arthrogryposis
- Source Database
- DisGeNET
- Description
- A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.
- Pubmed
- 24700531
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs