FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: Frontometaphyseal dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1557176315
rs1557176315
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0265293
Disease:
Frontometaphyseal dysplasia 		G 0.700 GeneticVariation CLINVAR 47 patients with FLNA associated periventricular nodular heterotopia. 26471271 2015
dbSNP: rs1557176315
rs1557176315
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0265293
Disease:
Frontometaphyseal dysplasia 		G 0.700 GeneticVariation CLINVAR Combined cardiological and neurological abnormalities due to filamin A gene mutation. 20730588 2011
dbSNP: rs1557176315
rs1557176315
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0265293
Disease:
Frontometaphyseal dysplasia 		G 0.700 GeneticVariation CLINVAR Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations. 16684786 2006