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Entry Name Description Category Pathway Gene
H00056 Alzheimer disease
Dementia due to Alzheimer disease
... include: amyloid precursor protein (APP), presenilin 1 (PS1), presenilin 2 (PS2), and apolipoprotein E (ApoE). All mutations associated with APP and PS proteins can lead to an increase in the production of ... Neurodegenerative disease hsa05010 Alzheimer disease (AD1) APP [HSA:351] [KO:K04520]
(AD2) APOE [HSA:348] [KO:K04524]
(AD3) PSEN1 [HSA:5663] [KO:K04505]
(AD4) PSEN2 [HSA:5664] [KO:K04522]
(AD9) ABCA7 [HSA:10347] [KO:K05645]
(AD18) ADAM10 [HSA:102] [KO:K06704]
H00156 Hyperlipoproteinemia, type III
Dysbetalipoproteinemia
Hyperlipoproteinemia type III is an autosomal recessive disorder characterized by the accumulation of intermediate-density lipoprotein due to mutation of apolipoprotein E. Inherited metabolic disorder APOE [HSA:348] [KO:K04524]
H00887 Lipoprotein glomerulopathy ... present with proteinuria and hypertension, microhematuria is rare, and renal function becomes impaired. Rare mutations in apolipoprotein E (apoE) gene may contribute to the pathogenesis of the disease. Inherited metabolic disorder APOE [HSA:348] [KO:K04524]
H01168 Sea-blue histiocyte disease ... including the bone marrow, liver, and spleen. This disorder is classified as either primary or secondary; most cases are secondary to lipid metabolic diseases. A mutation in the APOE gene has been reported. Inherited metabolic disorder APOE [HSA:348] [KO:K04524]
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