Disease Term Disease ID Gene Symbol References
Hamartoma C0018552 ACTB
ACVR1
CYP1A1 21998131
NTRK2
PTEN
SMO
TFAP2A
TSC2
TCTN3
DYNC2LI1
CDC73
NEK9
FLCN 27072130, 12204536
KLLN
Hamartoma Syndrome, Multiple C0018553 AKT1 23246288
EGFR
FGFR2 9002682
PIK3CA 15930273, 23246288, 18829572, 17376864, 22729224, 22120714, 27631024
PTEN 25448482, 24375884, 9345101, 9811831, 16619501, 9467011, 19719509, 11035045, 1097835, 11496368, 23613428, 11748304, 10866658, 28677221, 11230179, 17942903, 24498881, 9288766, 16021145, 10400993, 11685670, 9832031, 22595938, 22261759, 16007494, 17167516, 9399897, 9259288, 10051160, 27477328, 29706350, 23886400, 21956414, 10234502, 9425889, 17286265, 29444762, 23335809, 9735393, 25669429, 19321504, 29785012, 18716620, 21291452, 9140396, 9256433, 17526800, 10468583, 22628360, 10698513, 14566704, 9286463, 9600246, 12297295, 25756585, 10772829, 12471211, 10923032, 21828076, 10353779, 22252256, 22281088, 10749983, 25527629, 24778394, 18080326, 20712882, 10866302, 21194675, 9241266, 23475934, 28475857, 24905788, 15355975, 17427195, 4635800, 22266152, 22520842, 23399955, 22503188, 11918710, 10848731, 23470840, 25336918, 17526801, 11494117, 19968660, 24379037, 9797362, 23117110, 11476841, 14574156, 21659347, 29043291, 9915974, 10555148, 26681312
SDHB
SDHC 21979946
SDHD
SEC23B 26522472
KLLN 21177507