rs137853312, FLNA

N. diseases: 7
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1 ×
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
0.810 GeneticVariation UNIPROT Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 27193221 2016
FRONTOMETAPHYSEAL DYSPLASIA 1
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
0.810 GeneticVariation UNIPROT In a second family with FMD, we identified a known mutation (S1186L) in a mother and her son. 16596676 2006
FRONTOMETAPHYSEAL DYSPLASIA 1
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
0.810 GeneticVariation BEFREE In a second family with FMD, we identified a known mutation (S1186L) in a mother and her son. 16596676 2006
FRONTOMETAPHYSEAL DYSPLASIA 1
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
0.810 GeneticVariation UNIPROT Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583 2003
FRONTOMETAPHYSEAL DYSPLASIA 1
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
0.810 CausalMutation CLINVAR