Gene: FLNA ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		0.620 Biomarker disease 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 		0.620 GeneticVariation disease UNIPROT Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 27193221 2016
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		0.620 Biomarker disease CTD_human Genotype-epigenotype-phenotype correlations in females with frontometaphyseal dysplasia. 16596676 2006
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		0.620 GeneticVariation disease BEFREE We also describe two brothers with otopalatodigital syndrome type 1 due to the FLNA mutation 620G>A. 16538226 2006
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		0.620 GeneticVariation disease UNIPROT We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein. 15940695 2005
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		0.620 Biomarker disease CTD_human We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein. 15940695 2005
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		0.620 GeneticVariation disease BEFREE We present the phenotypic and molecular data of a sporadic female patient clinically diagnosed with an OPD1 syndrome who carried a novel FLNA point mutation resulting in an Asp203Tyr substitution in the actin-binding domain of the protein. 15940695 2005
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		0.620 Biomarker disease 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 		0.620 GeneticVariation disease UNIPROT Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583 2003
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		0.620 Biomarker disease GENOMICS_ENGLAND Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583 2003
Entrez Id: 2316
Gene Symbol: FLNA
FLNA 		0.620 Biomarker disease CTD_human Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583 2003