FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: Periventricular Heterotopia, X-Linked ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 GeneticVariation disease BEFREE Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A. 23032111 2013
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 Biomarker disease RGD A glial origin for periventricular nodular heterotopia caused by impaired expression of Filamin-A. 22076441 2012
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 Biomarker disease GENOMICS_ENGLAND Filamin A is mutated in X-linked chronic idiopathic intestinal pseudo-obstruction with central nervous system involvement. 17357080 2007
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 GeneticVariation disease UNIPROT A filamin A splice mutation resulting in a syndrome of facial dysmorphism, periventricular nodular heterotopia, and severe constipation reminiscent of cerebro-fronto-facial syndrome. 16299064 2006
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 Biomarker disease MGD Cardiac malformations and midline skeletal defects in mice lacking filamin A. 16825286 2006
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 GeneticVariation disease UNIPROT Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 15994863 2006
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 GeneticVariation disease UNIPROT Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 15668422 2005
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 GeneticVariation disease UNIPROT Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. 15249610 2004
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 Biomarker disease GENOMICS_ENGLAND A dual phenotype of periventricular nodular heterotopia and frontometaphyseal dysplasia in one patient caused by a single FLNA mutation leading to two functionally different aberrant transcripts. 14988809 2004
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 GeneticVariation disease UNIPROT Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 11914408 2002
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 Biomarker disease CTD_human Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 11914408 2002
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 GeneticVariation disease UNIPROT Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. 11532987 2001
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
Periventricular Heterotopia, X-Linked 		0.810 Biomarker disease CTD_human Mutations in filamin 1 prevent migration of cerebral cortical neurons in human periventricular heterotopia. 9883725 1998