HEXD, hexosaminidase D, 284004

N. diseases: 12; N. variants: 1
Disease: Tricuspid Valve Stenosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0040963
Disease: Tricuspid Valve Stenosis
Tricuspid Valve Stenosis 		0.010 Biomarker disease BEFREE TS disease is a GM2 gangliosidosis attributed to the deficiency of the lysosomal enzyme beta-hexosaminidase A (HexA) (beta-N-acetylhexosaminidase, EC ). 11923278 2002