rs28935469, FLNA

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Oto-Palato-digital syndrome type 1
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
0.800 CausalMutation CLINVAR
Uranostaphyloschisis
CUI: C2981150
Disease: Uranostaphyloschisis
0.700 CausalMutation CLINVAR
Conductive hearing loss
CUI: C0018777
Disease: Conductive hearing loss
0.700 CausalMutation CLINVAR
Short stature
CUI: C0349588
Disease: Short stature
0.700 CausalMutation CLINVAR
Oto-Palato-digital syndrome type 1
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
0.800 GeneticVariation UNIPROT Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans. 12612583 2003
Oto-Palato-digital syndrome type 1
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
0.800 GeneticVariation UNIPROT A novel filamin A D203Y mutation in a female patient with otopalatodigital type 1 syndrome and extremely skewed X chromosome inactivation. 15940695 2005
Oto-Palato-digital syndrome type 1
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
0.800 GeneticVariation UNIPROT Otopalatodigital spectrum disorders: refinement of the phenotypic and mutational spectrum. 27193221 2016