Fragile x syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Fragile X Syndrome | C0016667, 908 | APP | 22046307 |
| FMR1 | 23235829, 24204304, 8069307, 8156595, 8401578, 25693964, 8348153, 17850748, 8490651, 20300527, 1675488, 15380484, 1710175, 24448548, 24514761, 8490650, 16510718, 20011099, 11157796, 28616095, 9659908, 22043169, 8033209, 10196376, 15028757, 7688265, 24813610, 18835858, 18664458, 21267007, 17065172, 7670500, 18093976, 7620122, 25561520, 15805463, 16043816, 7633450, 28176767 | ||
| AFF2 | |||
| FRAXA Syndrome | C0751156 | APP | 22046307 |
| FMR1 | 16043816, 28616095, 16510718, 20300527, 22043169, 17065172, 18835858, 15028757 | ||
| AFF2 | |||
| FRAXE intellectual disability | 100973 | AFF2 | |
| FRAXE Syndrome | C0751157 | APP | 22046307 |
| FMR1 | 17065172, 22043169, 28616095, 15028757, 16043816, 16510718, 18835858, 20300527 | ||
| AFF2 | 8334699, 8673086, 7783162, 9341861, 14526173, 7536393, 9032643, 8023854, 23562910, 21739600, 9475603 | ||
| SERPINA1 | |||
| FRAXF syndrome | C4274329, 100974 | TMEM185A | 7874164 |