rs137853315, FLNA

N. diseases: 3
Disease: Periventricular Heterotopia, X-Linked ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Periventricular Heterotopia, X-Linked
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
0.800 GeneticVariation UNIPROT Ehlers-Danlos syndrome and periventricular nodular heterotopia in a Spanish family with a single FLNA mutation. 15994863 2006
Periventricular Heterotopia, X-Linked
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
0.800 GeneticVariation 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
Periventricular Heterotopia, X-Linked
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
0.800 GeneticVariation UNIPROT Filamin A mutations cause periventricular heterotopia with Ehlers-Danlos syndrome. 15668422 2005
Periventricular Heterotopia, X-Linked
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
0.800 GeneticVariation UNIPROT Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. 15249610 2004
Periventricular Heterotopia, X-Linked
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
0.800 GeneticVariation UNIPROT Familial periventricular heterotopia: missense and distal truncating mutations of the FLN1 gene. 11914408 2002
Periventricular Heterotopia, X-Linked
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
0.800 GeneticVariation UNIPROT Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females. 11532987 2001
Periventricular Heterotopia, X-Linked
CUI: C1848213
Disease: Periventricular Heterotopia, X-Linked
0.800 CausalMutation CLINVAR