Source: GENOMICS_ENGLAND

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1
0.590 Biomarker 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

Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1
0.590 Biomarker GENOMICS_ENGLAND Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583

2003