Search Result

 Top
1 to 3 of 3
Entry Name Description Category Pathway Gene
H00155 Familial hypercholesterolemia
Autosomal dominant hypercholesterolaemia 		Familial hypercholesterolaemia (FHCL) is an autosomal dominant disorder caused by deficiency of low density lipoprotein receptor. Other forms of this disorder include hypercholesterolemia caused by mutation ... Inherited metabolic disorder (FHCL1) LDLR [HSA:3949] [KO:K12473]
(FHCL1) EPHX2 [HSA:2053] [KO:K08726]
(FHCL1) GHR [HSA:2690] [KO:K05080]
(FHCL1) PPP1R17 [HSA:10842] [KO:K08067]
(FHCL1) APOA2 [HSA:336] [KO:K08758]
(FHCL2) APOB [HSA:338] [KO:K14462]
(FHCL3) PCSK9 [HSA:255738] [KO:K13050]
(FHCL4) LDLRAP1 [HSA:26119] [KO:K12474]
H01918 Familial autosomal recessive hypercholesterolemia ... large and bulky. In 2001, ARH was found to be caused by mutations in the LDL receptor adaptor protein 1 (LDLRAP1). In ARH, the internalization of the ligand-receptor complex cannot occur and all the LDL receptors ... Inherited metabolic disorder LDLRAP1 [HSA:26119] [KO:K12474]
H02505 Atherosclerosis Atherosclerosis is a chronic inflammatory disease marked by a narrowing of the arteries from lipid-rich plaques present within the walls of arterial blood vessels. It represents the root cause of the majority ... Cardiovascular disease hsa05417 Lipid and atherosclerosis LDLR [HSA:3949] [KO:K12473]
APOB [HSA:338] [KO:K14462]
PCSK9 [HSA:255738] [KO:K13050]
LDLRAP1 [HSA:26119] [KO:K12474]
ABCG5 [HSA:64240] [KO:K05683]
ABCG8 [HSA:64241] [KO:K05684]
LCAT [HSA:3931] [KO:K00650]
ABCA1 [HSA:19] [KO:K05641]
APOA1 [HSA:335] [KO:K08757]
MEF2A [HSA:4205] [KO:K09260]
LRP6 [HSA:4040] [KO:K03068]
1 to 3 of 3
[ KEGG | DISEASE | DRUG | MEDICUS ]