Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.090 Biomarker disease BEFREE Insertion of 16 amino acids in the BAR domain of the oligophrenin 1 protein causes mental retardation and cerebellar hypoplasia in an Italian family. 21796728 2011
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.090 Biomarker disease BEFREE In the microarray results the probe for oligophrenin-1, a gene known for its involvement in mental retardation, showed a decreased hybridization signal. 20602808 2010
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.090 Biomarker disease BEFREE Multiplex XLMR pedigrees have been reported with only one mutated patient having autism and MR: different X-located MR genes have been shown to be involved (NLGN4, MECP2, OPHN1, ZNF674 and FRAXA) which does not suggest that they could be "autism genes". 19160128 2009
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.090 GeneticVariation disease BEFREE Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. 18512229 2008
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.090 GeneticVariation disease BEFREE Report of a female patient with mental retardation and tall stature due to a chromosomal rearrangement disrupting the OPHN1 gene on Xq12. 17845870 2008
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.090 GeneticVariation disease BEFREE Recent reports have demonstrated that mutations in the OPHN1 gene were responsible for a syndromic rather than non-specific mental retardation. 16158428 2005
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.090 Biomarker disease BEFREE To further delineate the phenotypic and mutational spectrum of the syndrome, by screening oligophrenin 1 in two cohorts of male patients with mental retardation (MR) with or without known posterior fossa anomalies. 16221952 2005
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.090 GeneticVariation disease BEFREE OPHN1 was screened for mutations in 164 subjects with non-specific mental retardation. 10818214 2000
Entrez Id: 4983
Gene Symbol: OPHN1
OPHN1
0.090 Biomarker disease BEFREE Our findings give further support for the involvement of the oligophrenin-1 gene in specific morphological abnormalities of the brain which is of importance in the investigation of male patients presenting with mental retardation. 10439959 1999