FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: Ehlers-Danlos syndrome type 5 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268341
Disease: Ehlers-Danlos syndrome type 5
Ehlers-Danlos syndrome type 5 		0.300 GermlineCausalMutation disease ORPHANET Ehlers-Danlos syndrome with lethal cardiac valvular dystrophy in males carrying a novel splice mutation in FLNA. 27739212 2017