Disease Term Disease ID Gene Symbol References
Cafe au lait spots, multiple C1861975 AKT1
ATM
BRCA1
BRAF
BRCA2
BUB1
BUB1B
ERCC4
FANCA
FANCC
FANCD2
FANCE
FANCB
FANCF
FANCG
GNAS
IL7
KRAS
NF1
NF2
PCNT
PIK3CA
MAP2K1
MAP2K2
PTEN
RAD51
RAD51C
REV3L
SDHB
SDHC
SDHD
TSC1
TSC2
XRCC2
KDM5C
TP63
BUB3
TRIP13
CEP57
ABCB6
MAD2L2
SEC23B
CIB1
MAN1B1
TMC6
PLXND1
UBE2T
SMARCAL1
FANCL
RFWD3
FANCI
FANCM
PALB2
BRIP1
SLX4
TWIST2
TMC8
ARL6IP6
KLLN