Fragile x syndrome

Disease Term Disease ID Gene Symbol Classification References Source
Fragile X Syndrome C0016667 AFF2 Causal Pathogenic evidence from ClinVar - ClinVar
FMR1 Causal Pathogenic evidence from ClinVar 1675488, 1710175, 7620122, 7633450, 7670500, 7688265, 8033209, 8069307, 8156595, 8348153, 8401578, 8490650, 8490651, 9659908, 10196376, 11157796, 15028757, 15380484, 15805463, 16043816, 16510718, 17065172, 17850748, 18093976, 18664458, 18835858, 20011099, 20300527, 21267007, 22043169, 23235829, 24204304, 24448548, 24514761, 24813610, 25561520, 25693964, 28176767, 28616095 ClinVar
APP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22046307 -
FRAXA Syndrome C0751156 AFF2 Causal Pathogenic evidence from ClinVar - ClinVar
FMR1 Causal Pathogenic evidence from ClinVar 15028757, 16043816, 16510718, 17065172, 18835858, 20300527, 22043169, 28616095 ClinVar
APP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22046307 -
FRAXE intellectual disability 100973 AFF2 Causal Pathogenic evidence from ClinVar - ClinVar
FRAXE Syndrome C0751157 AFF2 Causal Pathogenic evidence from ClinVar 7536393, 7783162, 8023854, 8334699, 8673086, 9032643, 9341861, 9475603, 14526173, 21739600, 23562910 ClinVar
FMR1 Causal Pathogenic evidence from ClinVar 15028757, 16043816, 16510718, 17065172, 18835858, 20300527, 22043169, 28616095 ClinVar
APP Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 22046307 -
SERPINA1 Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations - -
Fragile X syndrome 908 FMR1 Causal Pathogenic evidence from ClinVar - ClinVar
FRAXF syndrome 100974, C4274329 TMEM185A Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations 7874164 -