DISEASES

Disease-gene associations mined from literature

Human genes for Ehlers-Danlos syndrome

Ehlers-Danlos syndrome [DOID:13359]

A plasma protein metabolism disease that has_material_basis_in defective production of the protease inhibitor alpha 1-antitrypsin (A1AT), leading to decreased A1AT activity in the blood and lungs, and deposition of excessive abnormal A1AT protein in liver cells.

Synonyms:  Ehlers-Danlos syndrome,  DOID:13359,  EhlersDanlos syndrome,  Ehlers-Danlos disease,  Ehlers-Danlos disorder ...

Linkouts:  OMIM #1 #2 #3 #4 #5 #6 #7 #8 #9 #10 #11 #12 #13