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: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		0.620 Biomarker GENOMICS_ENGLAND Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 28425981

2017
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		0.620 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: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1 		0.620 Biomarker GENOMICS_ENGLAND Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583

2003