Annotation Detail
Information
- Associated Genes
- PAFAH1B1
- Associated Variants
-
PAFAH1B1 MUTATION
PAFAH1B1 MUTATION - Associated Disease
- CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME
- Source Database
- DisGeNET
- Description
- NA
- Original source reporting the Gene Disease association
- ORPHANET
- DisGENET score for the Gene Disease association
- 0.12
Drugs