Disease: Fragile X Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.090 GeneticVariation disease BEFREE Further studies confirmed a loss of one copy each of the FMR1, FMR2, and IDS genes (which are mutated in Fragile X syndrome, FRAXE syndrome, and Hunter syndrome, respectively). 17506108 2007
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.090 Biomarker disease BEFREE FRAXE (FMR2) is a fragile site associated with mental impairment located in Xq28, 600 kb distal to FRAXA (FMR1), the fragile X syndrome fragile site. 11462240 2001
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.090 Biomarker disease BEFREE The folate-sensitive fragile site FRAXE is located in proximal Xq28 of the human X chromosome and lies approximately 600 kb distal to the fragile X syndrome (FRAXA) fragile site at Xq27.3. 10601577 2000
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.090 GeneticVariation disease BEFREE Fragile X syndrome with FMR1 and FMR2 deletion. 10424820 1999
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.090 GeneticVariation disease BEFREE DNA diagnosis of FRAXA and FRAXE in Chinese children with neurodevelopmental disorders and fragile X syndrome. 9630071 1998
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.090 Biomarker disease BEFREE Prevalence of fragile-X syndrome and FRAXE among children with intellectual disability in a Caribbean island, Guadeloupe, French West Indies. 9534118 1998
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.090 GeneticVariation disease BEFREE To date four types of trinucleotide repeat expansions have been identified: (1) long cytosine-guanine-guanine (CGG) repeats in the two fragile X syndromes (FRAXA and FRAXE), (2) long cytosine-thymine-guanine (CTG) repeat expansions in myotonic dystrophy, (3) long guanine-adenine-adenine repeat expansions in Friedreich's ataxia and (4) short cytosine-adenine-guanine repeat expansions (CAG) which are implicated in eight neurodegenerative disorders and are the focus of this review. 9217976 1997
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.090 Biomarker disease BEFREE To gain insight into the FRAXE phenotype, the clinical details of the identified FRAXE male plus three other FRAXE individuals identified through previous referrals for fragile X syndrome testing are presented. 8651274 1996
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.090 GeneticVariation disease BEFREE The well known common disorder Fragile X syndrome is associated with FRAXA and a rare non-specific form of mental handicap is associated with FRAXE. 9061751 1996