Source: CLINGEN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker CLINGEN Loss of FMR2 further emphasizes the link between deregulation of immediate early response genes FOS and JUN and intellectual disability. 23562910

2013
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker CLINGEN FRAXE syndrome is rare, and patients' phenotypes are highly variable, leading to difficulties with predicting specific FMR2 functions based on the human disease. 14526173

2003
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker CLINGEN Molecular characterization of FRAXE-positive subjects with mental impairement in two unrelated Italian families. 9475603

1998
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker CLINGEN Screening for FMR1 and FMR2 mutations in 222 individuals from Spanish special schools: identification of a case of FRAXE-associated mental retardation. 9341861

1997
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker CLINGEN Clinical, cytogenetic, and molecular analysis of three families with FRAXE. 9032643

1997
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker CLINGEN Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. 8673086

1996
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker CLINGEN FRAXE and mental retardation. 7783162

1995
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker CLINGEN Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE. 7536393

1995
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker CLINGEN Triplet repeat expansion at the FRAXE locus and X-linked mild mental handicap. 8023854

1994
Entrez Id: 2334
Gene Symbol: AFF2
AFF2
CUI: C0751157
Disease: FRAXE Syndrome
FRAXE Syndrome 		0.740 Biomarker CLINGEN Trinucleotide repeat amplification and hypermethylation of a CpG island in FRAXE mental retardation. 8334699

1993