Disease: Aarskog syndrome ×
Source: BEFREE ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE A novel variant in FGD1 was found in an Emirati family with two brothers suffering from AAS. 28103835 2017
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel. 27544718 2016
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE In the past decade, germline mutations in the FGD1 gene have been associated with a rare X-linked disorder known as faciogenital dysplasia (FGDY). 27199457 2016
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 Biomarker disease BEFREE Dysfunction of FGD1 causes Aarskog-Scott syndrome (MIM #305400), an X-linked disorder that may affect bone and intellectual development. 24446295 2014
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE Aarskog-Scott syndrome: a novel mutation in the FGD1 gene associated with severe craniofacial dysplasia. 24770546 2014
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE Here, we report a family with ASS where conventional Sanger sequencing failed to detect a pathogenic change in FGD1. 23169394 2013
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 Biomarker disease BEFREE Additionally, we focus on how studying the cell biology of FGD1 might help us to connect the dots that link CDC42 signalling with remodelling of the extracellular matrix (ECM) in physiology and complex diseases, while, at the same time, furthering our understanding of the pathogenesis of faciogenital dysplasia. 22854039 2012
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE Mutations in human FYVE, RhoGEF, and PH domain-containing 1 (FGD1) cause faciogenital dysplasia (FGDY; also known as Aarskog syndrome), an X-linked disorder that affects multiple skeletal structures. 21965325 2011
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE We report on Aarskog-Scott syndrome in male dizygotic twins with an identical de novo mutation in FGD1 that resulted from germline mosaicism in the phenotypically normal mother. 21739585 2011
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE In the present study, we report on our experience of screening for mutations in the FGD1 gene in a cohort of 60 European patients with a clinically suspected diagnosis of AAS. 20082460 2010
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE Indeed, there is a faciogenital dysplasia patient who has a missense mutation in proline-rich domain of FGD1, by which the serine residue at position 205 is substituted with isoleucine. 20045932 2010
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 Biomarker disease BEFREE Loss of Fgd1 causes the rare inherited human developmental disease faciogenital dysplasia. 19141649 2009
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE We report the first case of a boy with clinical features of AAS with deletion of FGD1 gene identified using an oligonucleotide-based X chromosome-specific microarray after attempts to generate amplicons for all of the FGD1 coding exons failed and BAC microarray analysis showed no abnormality. 19110080 2009
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE Unusually severe expression of craniofacial features in Aarskog-Scott syndrome due to a novel truncating mutation of the FGD1 gene. 17152066 2007
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE Mutations in the only known causative gene FGD1 are found in about one-fifth of the cases with the clinical diagnosis of AAS. 17847065 2007
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE Clinical variation of Aarskog syndrome in a large family with 2189delA in the FGD1 gene. 16353258 2006
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 Biomarker disease BEFREE The case we report confirms the highly variable expressivity of AAS and first documents that the FGD1 gene may play a role in ADHD susceptibility. 15809997 2005
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE The X-linked form of AAS has been ascribed to mutations in the FGD1 gene. 14560308 2004
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE Three brothers with non-syndromal X-linked mental retardation were found to have a novel missense mutation in FGD1, the gene associated with the Aarskog syndrome. 11940089 2002
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE FGD1 mutations result in faciogenital dysplasia, an X-linked human disease that affects skeletogenesis. 11751687 2001
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE DNA study on our family using an intragenic polymorphism of the Aarskog syndrome (FGD1) gene and four other adjacent markers convincingly excludes the possibility that their condition could be caused by a mutation of the FGD1 gene. 11241498 2001
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 Biomarker disease BEFREE FGD1, the gene responsible for the inherited disease faciogenital dysplasia, encodes a guanine nucleotide exchange factor (GEF) that specifically activates the p21 GTPase Cdc42. 11181572 2001
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 Biomarker disease BEFREE These mutations confirm the role of FGD1 as the gene responsible for the Aarskog syndrome. 11093277 2000
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 GeneticVariation disease BEFREE A gene, FGD1, altered in a patient with AAS phenotype, has been identified and found to encode a protein with homology to Rho/Rac guanine nucleotide exchange factors (Rho/Rac GEF). 10930571 2000
CUI: C0175701
Disease: Aarskog syndrome
Aarskog syndrome 		0.800 Biomarker disease BEFREE Isolation, characterization, and mapping of the mouse Fgd3 gene, a new Faciogenital Dysplasia (FGD1; Aarskog Syndrome) gene homologue. 10721717 2000