Search Result

1 to 11 of 11

Entry	Name	Description	Category	Pathway	Gene
H00056	Alzheimer disease Dementia due to Alzheimer disease	... These four genes 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 ...	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]
H00154	Hyperlipoproteinemia, type I	... hyperlipoproteinemia is an autosomal recessive disorder caused by deficiency of lipoprotein lipase or its activator apolipoprotein C-II. The defects result in a massive increase in chylomicron and triglyceride levels in ...	Inherited metabolic disorder		LPL [HSA:4023] [KO:K01059] APOC2 [HSA:344] [KO:K22287] GPIHBP1 [HSA:338328] [KO:K20001]
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]
H00376	Acute poliomyelitis Polio	Acute poliomyelitis, often called polio, is an infectious disease caused by any of the three serotypes of poliovirus, an enterovirus in the Picornaviridae family of +ssRNA viruses. Only a small proportion ...	Viral infectious disease
H00393	Enterovirus infection Non-polio enterovirus infection	... viruses belonging to the genus Enterovirus in the family Picornaviridae of +ssRNA viruses. Most non-polio enterovirus infections are mild, but some of them can cause hand, foot and mouth disease, viral ...	Viral infectious disease
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]
H01270	Familial hypobetalipoproteinemia	... hypobetalipoproteinemia (FHBL) is an inherited disorder of lipid metabolism defined by very low levels of plasma apolipoprotein B and LDL cholesterol. Mutations in the gene encoding apolipoprotein B (APOB) have been ...	Inherited metabolic disorder		(FHBL1) APOB [HSA:338] [KO:K14462] (FHBL2) ANGPTL3 [HSA:27329] [KO:K22288]
H01468	Eosinophilic granulomatosis with polyangiitis Churg-Strauss syndrome	... corticosteroids and cyclophosphamide is still the gold standard for the treatment of severe cases, but the use of biological agents such as rituximab or mepolizumab seems to be a promising therapeutic alternative.	Immune system disease
H01504	Vogt-Koyanagi-Harada syndrome Vogt-Koyanagi-Harada disease Uveomeningoencephalitic syndrome	... associated with neurologic and cutaneous manifestations, including headache, hearing loss, vitiligo, and poliosis. VKHS is more common in individuals of pigmented skin, such as Asians, Middle Easterners, Hispanics ...	Immune system disease; Nervous system disease		HLA-DRB1 [HSA:3123] [KO:K06752] HLA-DRB4 [HSA:3126] [KO:K06752]
H01784	Primary hyperchylomicronemia	... represented by two rare genetic disorders, i.e., familial lipoprotein lipase (LPL) deficiency and familial apolipoprotein C-II deficiency. Even rarer conditions such as circulating inhibitors of lipoprotein lipase ...	Inherited metabolic disorder		LPL [HSA:4023] [KO:K01059] APOC2 [HSA:344] [KO:K22287] GPIHBP1 [HSA:338328] [KO:K20001] LMF1 [HSA:64788] [KO:K23555] APOA5 [HSA:116519] [KO:K09025]
H02749	Bleeding disorder vascular-type	... platelet function. It has been reported that mutations in APOLD1 cause this disease. APOLD1 encodes apolipoprotein L domain-containing 1, which was recently identified as an endothelial cell early response ...	Hematologic disease		APOLD1 [HSA:81575]

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