Disease Term Disease ID Gene Symbol References
Smith-Magenis syndrome C0795864, 819 FLII 7825574, 9177775, 15690371
SMS
DEAF1 28213671
RAI1 12652298, 15565467, 19236431, 20691407, 19116176, 19752160, 20981775, 22578325, 18285828, 15746153, 15788730, 27693255, 16845274, 17041942, 17273973, 17517686, 15459175
IQSEC2 28213671