Disease Term Disease ID Gene Symbol References
PARTINGTON X-LINKED MENTAL RETARDATION SYNDROME C0796250 GRIA3 22285418, 12848940, 24721225, 10644433, 16436610, 17989220
PAK3 10946356, 17537723, 16014725, 17853471, 12884430, 29246092, 24556213, 28126652, 28481730, 9731525, 25666757, 18523455
POLA1 27019227
RPL10 16940977, 26290468, 25846674, 29066376, 21567917, 25316788
KDM5C 18697827, 26804915, 15586325
CASK 17287346, 28234597, 19165920, 21735175, 21954287, 25886057, 27036546, 29067402
ARX 11889467, 12379852
BRWD3 17668385, 28475857, 24462886, 25666827
Partington syndrome 94083 ARX