Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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A | 0.700 | CausalMutation | CLINVAR | Next generation sequencing in nonsyndromic intellectual disability: from a negative molecular karyotype to a possible causative mutation detection. | 24307393 | 2014 |
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A | 0.700 | CausalMutation | CLINVAR | Aarskog-Scott syndrome: first report of a duplication in the FGD1 gene. | 22211847 | 2012 |
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A | 0.700 | CausalMutation | CLINVAR | Aarskog-Scott syndrome: clinical update and report of nine novel mutations of the FGD1 gene. | 20082460 | 2010 |
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A | 0.700 | CausalMutation | CLINVAR | First case of deletion of the faciogenital dysplasia 1 (FGD1) gene in a patient with Aarskog-Scott syndrome. | 19110080 | 2009 |
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A | 0.700 | CausalMutation | CLINVAR | Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. | 17152066 | 2007 |
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A | 0.700 | CausalMutation | CLINVAR | Neurobehavioral disorders in patients with Aarskog-Scott syndrome affected by novel FGD1 mutations. | 16688726 | 2006 |
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A | 0.700 | CausalMutation | CLINVAR | Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. | 16353258 | 2006 |
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A | 0.700 | CausalMutation | CLINVAR | Attention-deficit/hyperactivity disorder (ADHD) and variable clinical expression of Aarskog-Scott syndrome due to a novel FGD1 gene mutation (R408Q). | 15809997 | 2005 |
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A | 0.700 | CausalMutation | CLINVAR | Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. | 14560308 | 2004 |
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A | 0.700 | CausalMutation | CLINVAR | Non-syndromic X-linked mental retardation associated with a missense mutation (P312L) in the FGD1 gene. | 11940089 | 2002 |
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A | 0.700 | CausalMutation | CLINVAR | The faciogenital dysplasia gene product FGD1 functions as a Cdc42Hs-specific guanine-nucleotide exchange factor. | 8969170 | 1996 |