Annotation Detail
Information
- Associated Genes
- VEGFA
- Associated Variants
-
VEGFA MUTATION
VEGFA MUTATION - Associated Disease
- Truncus Arteriosus, Persistent
- Source Database
- DisGeNET
- Description
- Indeed, we demonstrate in two multiplex consanguineous families that we are able to map TA to regions of autozygosity in which whole-exome sequencing revealed homozygous truncating mutations in PRKD1 (encoding a kinase derepressor of MAF2) and NRP1 (encoding a coreceptor of vascular endothelial growth factor (VEGFA)).
- Pubmed
- 25713110
- Section of the abstract supporting the evidence
- METHODS AND RESULTS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 6
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs