FLNA, filamin A, 2316

N. diseases: 571; N. variants: 85
Disease: Ehlers-Danlos syndrome type 5 ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0268341
Disease: Ehlers-Danlos syndrome type 5
Ehlers-Danlos syndrome type 5 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Hemic and Lymphatic Diseases; Cardiovascular Diseases Disease or Syndrome 2 4 0.300 None 1.000 1 4 2017 2017