Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C2746068
Disease: Congenital idiopathic intestinal pseudoobstruction
Congenital idiopathic intestinal pseudoobstruction 		0.510 Biomarker GENOMICS_ENGLAND Xq28 duplication presenting with intestinal and bladder dysfunction and a distinctive facial appearance. 18854860

2009
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C2746068
Disease: Congenital idiopathic intestinal pseudoobstruction
Congenital idiopathic intestinal pseudoobstruction 		0.510 GeneticVariation BEFREE We selected and sequenced seven genes and found that one affected male from a large CIIPX-affected kindred bears a 2-bp deletion in exon 2 of the FLNA gene that is present at the heterozygous state in the carrier females of the family. 17357080

2007
Entrez Id: 2316
Gene Symbol: FLNA
FLNA
CUI: C2746068
Disease: Congenital idiopathic intestinal pseudoobstruction
Congenital idiopathic intestinal pseudoobstruction 		0.510 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: C2746068
Disease: Congenital idiopathic intestinal pseudoobstruction
Congenital idiopathic intestinal pseudoobstruction 		0.510 Biomarker CTD_human