Annotation Detail

Information
Associated Genes
SULT1A1
Associated Variants
VEGFA c.-2055A>C
VEGFA c.*237C>T ( ENST00000230480.10, ENST00000372064.9, ENST00000372067.8, ENST00000372077.8, ENST00000425836.9, ENST00000520948.5, ENST00000523950.5, ENST00000672860.3 )
VEGFA c.-2055A>C
VEGFA c.*237C>T ( ENST00000230480.10, ENST00000372064.9, ENST00000372067.8, ENST00000372077.8, ENST00000425836.9, ENST00000520948.5, ENST00000523950.5, ENST00000672860.3 )
Associated Disease
Mucocutaneous Lymph Node Syndrome
Source Database
DisGeNET
Description
An association with susceptibility to KD was observed with 2 of the 6 single-nucleotide polymorphisms analyzed in VEGF: -2594 A>C (rs699947) and the 236 bp 3' of STP C>T (rs3025039).
Pubmed
16645995
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2006
Drugs