Annotation Detail
Information
- Associated Genes
- CDKN2A
- Associated Variants
-
CDKN2A MUTATION
CDKN2A MUTATION - Associated Disease
- Atypical Hemolytic Uremic Syndrome
- Source Database
- DisGeNET
- Description
- Genomic aberrations affecting the genes encoding factor H (FH) and the five FH-related proteins (FHRs) have been described in patients with atypical hemolytic uremic syndrome (aHUS), a rare condition characterized by microangiopathic hemolytic anemia, thrombocytopenia, and ARF.
- Pubmed
- 24904082
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 1
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs