Annotation Detail
Information
- Associated Genes
- CRPPA
- Associated Variants
-
CRPPA MUTATION
CRPPA MUTATION - Associated Disease
- Craniometaphyseal dysplasia, autosomal dominant
- Source Database
- DisGeNET
- Description
- To our knowledge, this is the first report on the co-occurrence of both a CMD/early LGMD intermediate phenotype and a CMD within the same family carrying a homozygous ISPD mutation.
- Pubmed
- 25444434
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs