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Diseases
Genes (827)
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LIPA
Acid Lipase Disease
Lysosomal Acid Lipase Deficiency
Cholesteryl Ester Storage Disease
Niemann–pick Disease, Type C
Lysosomal Storage Disease
GAA
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Glycogen Storage Disease Due To Acid Maltase Deficiency, Late-Onset
Lysosomal Storage Disease
Glycogen Storage Disease Type 2
SLC17A5
Salla Disease
Free Sialic Acid Storage Disease
Infantile Free Sialic Acid Storage Disease
Lysosomal Storage Disease
Glycogen Storage Disease Type 2
ARSA
Metachromatic Leukodystrophy
Metachromatic Leukodystrophy
Glycogen Storage Disease Type 1a
Lysosomal Storage Disease
GNE
Salla Disease
Free Sialic Acid Storage Disease
PYGM
Glycogen Storage Disease Type V
NPC1
Metachromatic Leukodystrophy
Metachromatic Leukodystrophy
Lipid Storage Disorder
Niemann–pick Disease, Type C
Lysosomal Storage Disease
ATRX
Alpha-Thalassemia Mental Retardation Syndrome
FOXP3
Ipex Syndrome
Niemann–pick Disease, Type C
AGL
Glycogen Storage Disease Type Iii
Glycogen Storage Disease Type 2
F12
Factor Xii Deficiency
MED12
Fg Syndrome
Alpha-Thalassemia Mental Retardation Syndrome
PNPLA2
Neutral Lipid Storage Disease With Myopathy
Glycogen Storage Disease Type 2
MYH7
Myosin Storage Myopathy
G6PC
Glycogen Storage Disease Type Ix
Glycogen Storage Disease Type 1a
Glycogen Storage Disease Type Iii
Glycogen Storage Disease Type 2
GYS2
Orofaciodigital Syndrome 1
Glycogen Storage Disease Type 0
Glycogen Storage Disease Type 0, Liver
Glycogen Storage Disease Type Iii
PRPS1
Arts Syndrome
PYGL
Glycogen Storage Disease Type Ix
Glycogen Storage Disease Type V
Glycogen Storage Disease Type Iii
Glycogen Storage Disease Vi
UBA1
X-Linked Spinal Muscular Atrophy Type 2
GYG1
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Glycogen Storage Disease Type 2