rs137853316, FLNA

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
FRONTOMETAPHYSEAL DYSPLASIA 1
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
0.710 GeneticVariation UNIPROT Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 27193221 2016
FRONTOMETAPHYSEAL DYSPLASIA 1
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
0.710 GeneticVariation BEFREE We report on a novel de novo mutation 5182G --> T in exon 31 of the FLNA gene in a girl with manifestations of FMD and OPD1. 16596676 2006
FRONTOMETAPHYSEAL DYSPLASIA 1
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
0.710 GeneticVariation UNIPROT We report on a novel de novo mutation 5182G --> T in exon 31 of the FLNA gene in a girl with manifestations of FMD and OPD1. 16596676 2006
FRONTOMETAPHYSEAL DYSPLASIA 1
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
0.710 GeneticVariation UNIPROT Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583 2003
Otopalatodigital Spectrum Disorder
CUI: C2748918
Disease: Otopalatodigital Spectrum Disorder
0.700 CausalMutation CLINVAR
Fibromuscular Dysplasia
CUI: C0016052
Disease: Fibromuscular Dysplasia
0.010 GeneticVariation BEFREE We report on a novel de novo mutation 5182G --> T in exon 31 of the FLNA gene in a girl with manifestations of FMD and OPD1. 16596676 2006
Muscular Dystrophy, Facioscapulohumeral
CUI: C0238288
Disease: Muscular Dystrophy, Facioscapulohumeral
0.010 GeneticVariation BEFREE We report on a novel de novo mutation 5182G --> T in exon 31 of the FLNA gene in a girl with manifestations of FMD and OPD1. 16596676 2006