Disease Term Disease ID Gene Symbol References
Familial Retinoblastoma C0751483 MYCN 23498720, 23498719
RB1 23498719, 16934146, 23498780
Retinoblastoma C0035335 BRCA2 24389050
MDM4
RB1 8605116, 12541220, 10486322, 27879208, 21520333, 18682685, 18181215, 24225018, 22963398, 23532519, 8651278, 19339519, 22180099, 24336570, 8346255, 17096365, 9973307, 11189328, 28193182, 24791139, 22328814, 20059380, 22219649, 18677112, 10671068, 2601691, 18449911, 26530098, 9140452, 25754945, 11524739, 9311732, 22084214, 28338660, 27582626, 11317357, 1352883, 7795591, 26787237, 24078560, 9341870, 2594029, 23788249, 16269091, 29261756, 24688104, 27155049, 9632788, 10991691, 15884040, 23595191, 28575107, 15643604, 19390654, 7927327, 12016586, 16595082, 12173465, 15605413, 16449662, 16463005, 25602518, 25157968, 7704558, 8776589, 14722923, 25928201, 26396485, 26925970, 26539030
TP53
CHEK2
BCOR
FANCM
Sporadic Retinoblastoma C0751484 RB1