Disease Term Disease ID Gene Symbol References
Lujan Fryns syndrome C0796022 MED12 12784307, 6711603, 19938245, 23506379, 17369503
ZDHHC9 17436253, 23506379
UPF3B 17704778
Lujan-Fryns syndrome 776 MED12
ZDHHC9
UPF3B