Annotation Detail

Information
Associated Genes
PECAM1
Associated Variants
PECAM1 MUTATION
Associated Disease
Congenital Abnormality
Source Database
DisGeNET
Description
Seeking to identify intrinsic defects in affected LECs, cells were isolated from malformation tissue or fluid on the basis of CD31 and podoplanin (PDPN) expression.
Pubmed
25292196
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
2
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Drugs