FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: Terminal Osseous Dysplasia and Pigmentary Defects ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1846129
Disease: Terminal Osseous Dysplasia and Pigmentary Defects
Terminal Osseous Dysplasia and Pigmentary Defects 		0.610 Biomarker disease GENOMICS_ENGLAND Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development. 28425981 2017
CUI: C1846129
Disease: Terminal Osseous Dysplasia and Pigmentary Defects
Terminal Osseous Dysplasia and Pigmentary Defects 		0.610 GermlineCausalMutation disease ORPHANET Our data show that TOD is caused by this single recurrent mutation in the FLNA gene. 20598277 2010
CUI: C1846129
Disease: Terminal Osseous Dysplasia and Pigmentary Defects
Terminal Osseous Dysplasia and Pigmentary Defects 		0.610 GeneticVariation disease BEFREE Our data show that TOD is caused by this single recurrent mutation in the FLNA gene. 20598277 2010
CUI: C1846129
Disease: Terminal Osseous Dysplasia and Pigmentary Defects
Terminal Osseous Dysplasia and Pigmentary Defects 		0.610 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
CUI: C1846129
Disease: Terminal Osseous Dysplasia and Pigmentary Defects
Terminal Osseous Dysplasia and Pigmentary Defects 		0.610 Biomarker disease GENOMICS_ENGLAND Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583 2003
CUI: C1846129
Disease: Terminal Osseous Dysplasia and Pigmentary Defects
Terminal Osseous Dysplasia and Pigmentary Defects 		0.610 Biomarker disease CTD_human