Annotation Detail
Information
- Associated Genes
- ZNF469
- Associated Variants
-
ZNF469 MUTATION
ZNF469 MUTATION - Associated Disease
- Ehlers-Danlos syndrome 6B
- Source Database
- DisGeNET
- Description
- Homozygous mutations in ZNF469 and PR domain-containing protein 5 (PRDM5) genes result in brittle cornea syndrome (BCS) Types 1 and 2, respectively.
- Pubmed
- 24895405
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human
- DisGENET score for the Gene Disease association
- 0.242442976848723
Drugs