Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene. | 18512229 | 2008 | ||||
|
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 | ||||
|
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 | ||||
|
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 | ||||
|
0.090 | GeneticVariation | disease | BEFREE | OPHN1 was screened for mutations in 164 subjects with non-specific mental retardation. | 10818214 | 2000 | ||||
|
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 |