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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Hyperlipoproteinemias
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Accession:DOID:9007571 term browser browse the term
Definition:Conditions with abnormally elevated levels of LIPOPROTEINS in the blood. They may be inherited, acquired, primary, or secondary. Hyperlipoproteinemias are classified according to the pattern of lipoproteins on electrophoresis or ultracentrifugation.
Synonyms:exact_synonym: Hyperlipoproteinemia
 primary_id: MESH:D006951;   RDO:0002550
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Hyperlipoproteinemias term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa4 apolipoprotein A4 ISO protein:increased expression:blood plasma (human) RGD PMID:226830 RGD:5685673 NCBI chrNW_004936542:2,098,683...2,101,127 JBrowse link
G Apoa5 apolipoprotein A5 ISO associated with Diabetes Mellitus, Non-Insulin-Dependent;DNA:polymorphism: :-1131T>C, p.S19W (human) RGD PMID:18468520 RGD:2313317 NCBI chrNW_004936542:2,069,683...2,071,344 JBrowse link
G Apoc2 apolipoprotein C2 susceptibility ISO protein:increased expression:serum
DNA:missense mutation: :p.L72P (human)
RGD PMID:1468157 PMID:16153625 RGD:1601204 RGD:1601208 NCBI chrNW_004936706:1,531,219...1,531,921 JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:2022742 NCBI chrNW_004936542:2,106,927...2,108,412 JBrowse link
G Apoh apolipoprotein H ISO RGD PMID:6613192 RGD:2313992 NCBI chrNW_004936541:6,683,483...6,695,094 JBrowse link
G Lipc lipase C, hepatic type ISO associated with Nephrosis; protein:decreased expression:plasma (rat)
associated with Obesity and Diabetes; DNA:transition:promoter:-514C>T (human)
CTD Direct Evidence: marker/mechanism
associated with Diabetes Mellitus, Non-Insulin-Dependent; protein:increased expression:plasma (human)
RGD
CTD
PMID:6480830 PMID:11427226 PMID:15941898 PMID:18160998 RGD:2308798 RGD:2308829 RGD:2308834 NCBI chrNW_004936471:19,604,083...19,733,721 JBrowse link
G LOC101978543 cholesteryl ester transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:2215607 PMID:8408659 NCBI chrNW_004936475:9,115,126...9,133,071 JBrowse link
G Pon1 paraoxonase 1 treatment ISO CTD Direct Evidence: marker/mechanism RGD
CTD
PMID:11015468 PMID:15324535 RGD:731237 RGD:8547684 NCBI chrNW_004936585:4,954,871...4,979,560 JBrowse link
G Ppara peroxisome proliferator activated receptor alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:10828087 NCBI chrNW_004936629:3,672,445...3,725,645 JBrowse link
G Serpinf2 serpin family F member 2 ISO RGD PMID:6121140 RGD:1625537 NCBI chrNW_004936538:7,870,898...7,877,279 JBrowse link
apolipoprotein C-III deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoc3 apolipoprotein C3 ISO ClinVar Annotator: match by term: Apolipoprotein c-III deficiency OMIM
ClinVar
PMID:2022742 PMID:19074352 PMID:24941081 PMID:24941082 PMID:25962519 More... NCBI chrNW_004936542:2,106,927...2,108,412 JBrowse link
autosomal recessive hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Catsper4 cation channel sperm associated 4 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,707,630...10,719,367 JBrowse link
G Cep85 centrosomal protein 85 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,747,025...10,775,959 JBrowse link
G Cnksr1 connector enhancer of kinase suppressor of Ras 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,697,777...10,706,988 JBrowse link
G Crybg2 crystallin beta-gamma domain containing 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,822,846...10,840,167 JBrowse link
G Dhdds dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,914,018...10,949,138 JBrowse link
G Extl1 exostosin like glycosyltransferase 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,568,649...10,580,597 JBrowse link
G Fam110d family with sequence similarity 110 member D ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,682,107...10,685,721 JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 OMIM
ClinVar
PMID:4351242 PMID:7628519 PMID:9536098 PMID:11326085 PMID:11897284 More... NCBI chrNW_004936474:10,196,228...10,219,137 JBrowse link
G Lin28a lin-28 homolog A ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,896,153...10,909,247 JBrowse link
G LOC101974704 aurora kinase A and ninein interacting protein ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,409,463...10,430,158 JBrowse link
G Man1c1 mannosidase alpha class 1C member 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,297,853...10,367,166 JBrowse link
G Mtfr1l mitochondrial fission regulator 1 like ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,398,656...10,410,261 JBrowse link
G Pafah2 platelet activating factor acetylhydrolase 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,523,605...10,554,868 JBrowse link
G Paqr7 progestin and adipoQ receptor family member 7 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,431,810...10,434,004 JBrowse link
G Pdik1l PDLIM1 interacting kinase 1 like ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,641,399...10,650,638 JBrowse link
G Selenon selenoprotein N ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,381,646...10,396,638 JBrowse link
G Sh3bgrl3 SH3 domain binding glutamate rich protein like 3 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,776,700...10,778,299 JBrowse link
G Slc30a2 solute carrier family 30 member 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,581,504...10,589,364 JBrowse link
G Stmn1 stathmin 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,470,006...10,475,557 JBrowse link
G Trim63 tripartite motif containing 63 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,598,571...10,610,197 JBrowse link
G Ubxn11 UBX domain protein 11 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,778,367...10,800,805 JBrowse link
G Znf593 zinc finger protein 593 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,691,090...10,692,517 JBrowse link
G Znf683 zinc finger protein 683 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 4 ClinVar PMID:11326085 PMID:12464675 PMID:28492532 NCBI chrNW_004936474:10,851,249...10,859,092 JBrowse link
Broad-Betalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Broad-betalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 More... NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
cholesterol-ester transfer protein deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101978543 cholesteryl ester transfer protein ISO ClinVar Annotator: match by term: CETP DEFICIENCY ClinVar PMID:14559957 PMID:17190939 PMID:20068209 PMID:25741868 PMID:28492532 NCBI chrNW_004936475:9,115,126...9,133,071 JBrowse link
familial GPIHBP1 deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gpihbp1 glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type 1D OMIM
ClinVar
PMID:19304573 PMID:20026666 PMID:20124439 PMID:21816778 PMID:22239554 More... NCBI chrNW_004936470:8,798,095...8,800,176 JBrowse link
Familial Hyperbeta- and Prebetalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Familial hyperbeta- and prebetalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 More... NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
familial hypercholesterolemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:19743957 PMID:20800056 PMID:24497850 PMID:25215231 PMID:25741868 More... NCBI chrNW_004936559:7,177,887...7,312,660 JBrowse link
G Apoa2 apolipoprotein A2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar
PMID:12522687 NCBI chrNW_004936903:520,420...521,726 JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Familial hypercholesterolemia 1 | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia
ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1
ClinVar PMID:221546 PMID:1360085 PMID:1424233 PMID:1454832 PMID:1466657 More... NCBI chrNW_004936493:10,509,118...10,549,144 JBrowse link
G Apoe apolipoprotein E ISO RGD PMID:29166645 RGD:150520219 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Carm1 coactivator associated arginine methyltransferase 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chrNW_004936659:1,071,883...1,120,917 JBrowse link
G CUNH19orf38 chromosome unknown C19orf38 homolog ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chrNW_004936659:1,059,059...1,072,148 JBrowse link
G Dnm2 dynamin 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:28492532 NCBI chrNW_004936659:957,408...1,046,393 JBrowse link
G Dock6 dedicator of cytokinesis 6 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:14756670 PMID:17094996 PMID:19538517 PMID:20045108 PMID:22698793 More... NCBI chrNW_004936659:1,341,144...1,394,484 JBrowse link
G Ephx2 epoxide hydrolase 2 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar
PMID:10862610 PMID:12522687 PMID:14673705 PMID:14732757 PMID:15845398 More... NCBI chrNW_004936675:350,357...392,919 JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar
PMID:7565946 PMID:8504296 PMID:17462934 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936518:235,996...380,225 JBrowse link
G Gk glycerol kinase ISO RGD PMID:10642898 RGD:13702898 NCBI chrNW_004936553:6,707,148...6,787,245 JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 OMIM
ClinVar
PMID:200368 PMID:1057090 PMID:1073562 PMID:1139254 PMID:1301940 More... NCBI chrNW_004936659:1,259,405...1,300,545 JBrowse link
G Ldlrap1 low density lipoprotein receptor adaptor protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:4351242 PMID:11326085 PMID:12016260 PMID:12464675 PMID:12788851 More... NCBI chrNW_004936474:10,196,228...10,219,137 JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Fredrickson type IIa hyperlipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:10357843 PMID:10764678 PMID:11668641 PMID:11941481 PMID:12175777 More... NCBI chrNW_004936522:6,271,339...6,300,202 JBrowse link
G Pon2 paraoxonase 2 ISO DNA:missense mutation:cds:p.S311C (human) RGD PMID:16776623 RGD:1642625 NCBI chrNW_004936585:4,862,378...4,894,061 JBrowse link
G Ppp1r17 protein phosphatase 1 regulatory subunit 17 ISO OMIM NCBI chrNW_004936478:7,839,945...7,858,794 JBrowse link
G Serpine1 serpin family E member 1 ISO protein:increased expression:serum: RGD PMID:19004443 RGD:13207334 NCBI chrNW_004936543:1,032,543...1,040,956 JBrowse link
G Smarca4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia | ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:1998642 PMID:25741868 PMID:28492532 NCBI chrNW_004936659:1,152,846...1,246,718 JBrowse link
G Stap1 signal transducing adaptor family member 1 ISO ClinVar Annotator: match by term: Hypercholesterolemia, familial, 1 ClinVar PMID:26036859 NCBI chrNW_004936582:877,241...908,697 JBrowse link
G Timm29 translocase of inner mitochondrial membrane 29 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chrNW_004936659:1,126,415...1,128,838 JBrowse link
G Tmed1 transmembrane p24 trafficking protein 1 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chrNW_004936659:1,046,144...1,049,628 JBrowse link
G Yipf2 Yip1 domain family member 2 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia ClinVar PMID:28492532 NCBI chrNW_004936659:1,120,365...1,126,418 JBrowse link
Familial Hypercholesterolemia due to Ligand-Defective Apolipoprotein B term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: APOLIPOPROTEIN B-100, FAMILIAL DEFECTIVE | ClinVar Annotator: match by term: HYPERCHOLESTEROLEMIA, FAMILIAL, DUE TO LIGAND-DEFECTIVE APOLIPOPROTEIN B ClinVar PMID:1360085 PMID:1466657 PMID:1493642 PMID:1600334 PMID:1793440 More... NCBI chrNW_004936493:10,509,118...10,549,144 JBrowse link
Familial Hyperchylomicronemia Syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipoproteinemia type 1 ClinVar PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 More... NCBI chrNW_004936555:4,084,099...4,108,219 JBrowse link
familial lipoprotein lipase deficiency term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Hyperlipoproteinemia, type I ClinVar PMID:25741868 NCBI chrNW_004936542:2,069,683...2,071,344 JBrowse link
G Apoc2 apolipoprotein C2 ISO ClinVar Annotator: match by term: C-II ANAPOLIPOPROTEINEMIA ClinVar PMID:213719 PMID:1349286 PMID:1628605 PMID:1782747 PMID:1971748 More... NCBI chrNW_004936706:1,531,219...1,531,921 JBrowse link
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperlipemia essential familial | ClinVar Annotator: match by term: Hyperlipoproteinemia, type I OMIM
ClinVar
PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 More... NCBI chrNW_004936555:4,084,099...4,108,219 JBrowse link
Floating-Betalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Floating-betalipoproteinemia ClinVar PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 More... NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
hyperalphalipoproteinemia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC101978543 cholesteryl ester transfer protein ISO ClinVar Annotator: match by term: High density lipoprotein cholesterol level quantitative trait locus 10 | ClinVar Annotator: match by term: Hyperalphalipoproteinemia 1 OMIM
ClinVar
PMID:2215607 PMID:2390095 PMID:2586614 PMID:6738363 PMID:7605382 More... NCBI chrNW_004936475:9,115,126...9,133,071 JBrowse link
Hyperapobetalipoproteinemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lpl lipoprotein lipase ISO ClinVar Annotator: match by term: Hyperapobetalipoproteinemia ClinVar PMID:1351946 PMID:1371284 PMID:1400331 PMID:1479292 PMID:1505655 More... NCBI chrNW_004936555:4,084,099...4,108,219 JBrowse link
G Ppara peroxisome proliferator activated receptor alpha susceptibility ISO ClinVar Annotator: match by term: Hyperapobetalipoproteinemia, susceptibility to OMIM
ClinVar
PMID:10828087 PMID:12006394 PMID:15309680 NCBI chrNW_004936629:3,672,445...3,725,645 JBrowse link
Hypercholesterolemia, Autosomal Dominant, 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:25741868 NCBI chrNW_004936493:10,509,118...10,549,144 JBrowse link
G Bsnd barttin CLCNK type accessory subunit beta ISO ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 ClinVar PMID:28492532 NCBI chrNW_004936522:6,329,981...6,338,825 JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 ISO ClinVar Annotator: match by term: Familial hypercholesterolemia 3 | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, 3 OMIM
ClinVar
PMID:9536098 PMID:10357843 PMID:10764678 PMID:11668641 PMID:11941481 More... NCBI chrNW_004936522:6,271,339...6,300,202 JBrowse link
Hyperlipemia with Familial Hypercholesterolemic Xanthomatosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: Hyperlipemia with familial hypercholesterolemic xanthomatosis ClinVar PMID:2992507 PMID:3243553 PMID:6300187 PMID:9649566 PMID:16103896 More... NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
Hyperlipoproteinemia Type II term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca1 ATP binding cassette subfamily A member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004936559:7,177,887...7,312,660 JBrowse link
G Adrb2 adrenoceptor beta 2 ISO DNA:polymorphism: :p.Q27E RGD PMID:17020471 RGD:1601121 NCBI chrNW_004936504:5,985,407...5,987,453 JBrowse link
G Apoa1 apolipoprotein A1 ISO DNA:polymorphism:promoter:-75G>A (human) RGD PMID:9699897 RGD:1601186 NCBI chrNW_004936542:2,111,055...2,112,626 JBrowse link
G Apoa2 apolipoprotein A2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12522687 NCBI chrNW_004936903:520,420...521,726 JBrowse link
G Apoa4 apolipoprotein A4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004936542:2,098,683...2,101,127 JBrowse link
G Apob apolipoprotein B ISO ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type IIb OMIM
ClinVar
PMID:221546 PMID:1360085 PMID:1424233 PMID:1431583 PMID:1454832 More... NCBI chrNW_004936493:10,509,118...10,549,144 JBrowse link
G Apoc3 apolipoprotein C3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004936542:2,106,927...2,108,412 JBrowse link
G Apoe apolipoprotein E ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Ghr growth hormone receptor ISO ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia ClinVar PMID:7565946 PMID:8504296 PMID:17462934 PMID:25741868 PMID:26467025 More... NCBI chrNW_004936518:235,996...380,225 JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO CTD Direct Evidence: marker/mechanism CTD PMID:12477733 NCBI chrNW_004936549:1,378,536...1,400,501 JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia | ClinVar Annotator: match by term: Hypercholesterolemia, autosomal dominant, type B | ClinVar Annotator: match by term: Hyperlipoproteinemia Type II ClinVar PMID:1139254 PMID:1301940 PMID:1301956 PMID:1319734 PMID:1352322 More... NCBI chrNW_004936659:1,259,405...1,300,545 JBrowse link
G Lipc lipase C, hepatic type ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004936471:19,604,083...19,733,721 JBrowse link
G LOC101968913 microsomal triglyceride transfer protein ISO RGD PMID:17215532 RGD:1625482 NCBI chrNW_004936520:3,337,726...3,417,818 JBrowse link
G LOC101978543 cholesteryl ester transfer protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004936475:9,115,126...9,133,071 JBrowse link
G Lpl lipoprotein lipase ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004936555:4,084,099...4,108,219 JBrowse link
G Mmp9 matrix metallopeptidase 9 ISO protein:increased expression:serum RGD PMID:16280123 RGD:1642031 NCBI chrNW_004936514:7,038,240...7,045,873 JBrowse link
G Pcsk9 proprotein convertase subtilisin/kexin type 9 severity ISO DNA:missense mutation:cds:p.D374Y (human)
ClinVar Annotator: match by term: Hyper-beta-lipoproteinemia
RGD
ClinVar
PMID:11941481 PMID:15654334 PMID:15772090 PMID:16424354 PMID:16554528 More... RGD:1581001 NCBI chrNW_004936522:6,271,339...6,300,202 JBrowse link
G Pon1 paraoxonase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 PMID:16238680 NCBI chrNW_004936585:4,954,871...4,979,560 JBrowse link
G Pon2 paraoxonase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16030523 NCBI chrNW_004936585:4,862,378...4,894,061 JBrowse link
hyperlipoproteinemia type III term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16143024 NCBI chrNW_004936542:2,069,683...2,071,344 JBrowse link
G Apoc3 apolipoprotein C3 ISO RGD PMID:2879788 RGD:1578447 NCBI chrNW_004936542:2,106,927...2,108,412 JBrowse link
G Apoe apolipoprotein E ISO ClinVar Annotator: match by term: APOE5 VARIANT | ClinVar Annotator: match by term: Coronary artery disease, severe, susceptibility to | ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia | ClinVar Annotator: match by term: Floating-betalipoproteinemia | ClinVar Annotator: match by term: HYPERLIPOPROTEINEMIA, TYPE III, ASSOCIATED WITH APOE3(WASHINGTON) | ClinVar Annotator: match by term: Hyperlipoproteinemia, type III, due to APOE2 OMIM
ClinVar
PMID:1356443 PMID:1360898 PMID:1361196 PMID:1713245 PMID:2101409 More... NCBI chrNW_004936706:1,512,438...1,516,805 JBrowse link
G Ldlr low density lipoprotein receptor ISO ClinVar Annotator: match by term: Familial type 3 hyperlipoproteinemia ClinVar PMID:25741868 NCBI chrNW_004936659:1,259,405...1,300,545 JBrowse link
hyperlipoproteinemia type IV term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 susceptibility ISO CTD Direct Evidence: marker/mechanism OMIM
CTD
NCBI chrNW_004936542:2,069,683...2,071,344 JBrowse link
hyperlipoproteinemia type V term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Apoa5 apolipoprotein A5 ISO ClinVar Annotator: match by term: Familial type 5 hyperlipoproteinemia OMIM
ClinVar
PMID:16200213 PMID:24591733 PMID:25741868 PMID:29954705 PMID:31980526 More... NCBI chrNW_004936542:2,069,683...2,071,344 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 13689
    Nutritional and Metabolic Diseases 5351
      disease of metabolism 5351
        lipid metabolism disorder 899
          familial hyperlipidemia 193
            Hyperlipoproteinemias 62
              Hyperlipoproteinemia Type II + 57
              Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia 0
              cholesterol-ester transfer protein deficiency + 2
              familial GPIHBP1 deficiency 1
              familial chylomicronemia due to inhibition of lipoprotein lipase activity 0
              familial lipoprotein lipase deficiency + 4
              hyperlipoproteinemia type III + 4
              hyperlipoproteinemia type IV 1
              hyperlipoproteinemia type V 1
Path 2
Term Annotations click to browse term
  disease 13689
    Developmental Disease 11156
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 10042
        genetic disease 9646
          inherited metabolic disorder 3719
            lipid metabolism disorder 899
              Dyslipidemias 218
                familial hyperlipidemia 193
                  Hyperlipoproteinemias 62
                    Hyperlipoproteinemia Type II + 57
                    Lipoprotein Types--Lp System Lp(A) Hyperlipoproteinemia 0
                    cholesterol-ester transfer protein deficiency + 2
                    familial GPIHBP1 deficiency 1
                    familial chylomicronemia due to inhibition of lipoprotein lipase activity 0
                    familial lipoprotein lipase deficiency + 4
                    hyperlipoproteinemia type III + 4
                    hyperlipoproteinemia type IV 1
                    hyperlipoproteinemia type V 1
paths to the root