Disease Term Disease ID Gene Symbol References
Congenital arteriovenous malformation C0003857 AKT1
BRCA1
BRCA2
CBS
ERCC4
FANCA
FANCC
FANCD2
FANCE
FANCB
FANCF
FANCG
GNAQ
GUSB
MNX1
RBPJ
NOTCH1
PIK3CA
PTEN
RAD51
RAD51C
RASA1 14639529
TEK
VHL
XRCC2
ADAMTS3
MAD2L2
UBE2T
DLL4
FANCL
RFWD3
FANCI
ARHGAP31
DOCK6
FANCM
FAT4
PALB2
BRIP1
SLX4
CCBE1
ARL6IP6
EOGT