AFF2, AF4/FMR2 family member 2, 2334

N. diseases: 66; N. variants: 2
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 		0.340 Biomarker disease BEFREE Examples include CAPRIN1 and AFF2 (both linked to FMR1, which is involved in fragile X syndrome), VIP (involved in social-cognitive deficits), and other genes such as SCN2A and KCNQ2 (linked to epilepsy), NRXN1, and CHD7, which causes ASD-associated CHARGE syndrome. 23849776 2013
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.340 Biomarker disease BEFREE X chromosome microarray revealed a large deletion encompassing the genes IDS, FMR1, and AFF2 (FMR2) confirming the diagnoses of both Hunter and fragile X syndromes. 22190500 2012
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.340 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 		0.340 GeneticVariation disease BEFREE Fragile X syndrome with FMR1 and FMR2 deletion. 10424820 1999
CUI: C0016667
Disease: Fragile X Syndrome
Fragile X Syndrome 		0.340 Biomarker disease CTD_human